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Τετάρτη 13 Μαρτίου 2019

Environment

The evolution of an aerosol event observed from aircraft in Beijing: An insight into regional pollution transport

Publication date: 1 June 2019

Source: Atmospheric Environment, Volume 206

Author(s): Ping Tian, Dantong Liu, Mengyu Huang, Quan Liu, Delong Zhao, Liang Ran, Zhaoze Deng, Yunfei Wu, Shizuo Fu, Kai Bi, Qian Gao, Hui He, Huiwen Xue, Deping Ding

Abstract

To investigate the transport and formation mechanism of pollution in Beijing, this study explored the vertical profiles of aerosol properties using aircraft measurement during a regional transport (RT) pollution event from 10th to 12th December 2016. The aerosol chemical composition and size distribution were characterized. Different vertical structures exhibited during three periods (defined as before RT, during RT, and after RT) for this pollution event. Before RT, PM2.5 and black carbon (BC) mass loading were at low level in the mixing layer (ML) when the clean northerly air mass dominated. During RT, an elevated aerosol layer, in which BC and PM2.5 mass concentrations were about 1.5 times higher than that at the ground level, was found in the upper ML (at 400–900 m) over Beijing. This elevated aerosol layer was advected by the prevailing southwesterly air mass which transported the pollutants from the intensively polluted southwestern region over Beijing. These aerosols through RT featured with pronounced secondary compositions and large coatings on BC particles. After RT, the pollutants were significantly diluted by the prevailing NW air mass, whereas the aerosol concentration almost maintained in the near surface, leading to notable vertical gradient. The continued surface pollution may result from the low wind speed and secondary aerosol formation in the next day. This study suggests that only the ground observation could not fully explain the pollution event, but the variation of vertical structure of aerosol properties should be considered to elucidate the formation mechanism of pollution over Beijing.

Graphical abstract

Comparison of vertical BC profiles between Beijing and Baoding show that the BC mass concentration of Baoding was 4 times larger than that of Beijing on December 10, and 1.6 times smaller than that of Beijing on December11. It is very interesting to found an enhanced BC layer from 400 to 900 m in upper mixing layer over Beijing on December11. The meteorological analysis indicated that the enhanced layer was caused by the regional transport from the surface area in the southern part of North China Plain. Through vertical mixing in the mixing layer in Beijing, the ground PM2.5 mass concentration was increased quickly. Our results verified that the rapidly increase of pollution in Beijing was caused by southern transport at high altitude.

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Sources and gas-particle partitioning of atmospheric parent, oxygenated, and nitrated polycyclic aromatic hydrocarbons in a humid city in southwest China

Publication date: 1 June 2019

Source: Atmospheric Environment, Volume 206

Author(s): Huilin Hu, Mi Tian, Leiming Zhang, Fumo Yang, Chao Peng, Yang Chen, Guangming Shi, Xiaojiang Yao, Changtan Jiang, Jun Wang

Abstract

Polycyclic aromatic hydrocarbons (PAHs) derivatives, such as oxygenated PAHs (OPAHs) and nitrated PAHs (NPAHs), some of which are more toxic and persistent than parent PAHs, have been ubiquitously detected in the environment. Gaseous and particulate PAHs, OPAHs, and NPAHs in the air were measured in an urban environment of Chongqing in southwest China in 2016. Annual average concentrations were 79.9 ± 40.5 ng/m³, 93.7 ± 75.2 ng/m³ and 1.65 ± 1.43 ng/m³ for ∑29 PAHs, ∑10 OPAHs and ∑27 NPAHs, respectively. PAHs had highest level in winter and lowest level in summer while NPAHs and OPAHs showed relatively higher concentrations in summer than spring and autumn, which may be explained by stronger secondary formation of NPAHs and OPAHs in summer. Source apportionment analysis revealed that biomass burning, coal combustion, and petroleum combustion were the main sources for PAHs, while secondary formation, especially in summer, contributed greatly to OPAHs and NPAHs. Gas/particle partition coefficient (logKP) of PAHs, OPAHs and NPAHs, calculated from our observation data, was found to correlate well with the corresponding subcooled liquid vapor pressures (logPLo). The shallower slope of the linear regression between logKP and logPLo for PAHs (−0.61 to −0.52) than OPAHs or NPAHs (−2.14 to −0.73) indicated stronger absorption into the atmospheric particles for PAHs. Three gas/particle partitioning models were evaluated, including the Junger-Pankow adsorption model, the KOA absorption model, and the Dual octanol-air/soot-air model. Compared to the measured values of particle-bound fractions, model predicted values were in reasonable range for PAHs, but were underestimated for NPAHs and OPAHs, suggesting that other important factors such as the influence of RH should be incorporated in gas/particle partitioning models for less hydrophobic compounds, especially in humid areas.

Graphical abstract

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Gaussian Markov Random Fields versus Linear Mixed Models for satellite-based PM2.5 assessment: Evidence from the Northeastern USA

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): Ron Sarafian, Itai Kloog, Allan C. Just, Johnathan D. Rosenblatt

Abstract

Studying the effects of air-pollution on health is a key area in environmental epidemiology. An accurate estimation of air-pollution effects requires spatio-temporally resolved datasets of air-pollution, especially, Fine Particulate Matter (PM). Satellite-based technology has greatly enhanced the ability to provide PM assessments in locations where direct measurement is impossible.

Indirect PM measurement is a statistical prediction problem. The spatio-temporal statistical literature offer various predictive models: Gaussian Random Fields (GRF) and Linear Mixed Models (LMM), in particular. GRF emphasize the spatio-temporal structure in the data, but are computationally demanding to fit. LMMs are computationally easier to fit, but require some tampering to deal with space and time.

Recent advances in the spatio-temporal statistical literature propose to alleviate the computation burden of GRFs by approximating them with Gaussian Markov Random Fields (GMRFs). Since LMMs and GMRFs are both computationally feasible, the question arises: which is statistically better? We show that despite the great popularity of LMMs in environmental monitoring and pollution assessment, LMMs are statistically inferior to GMRF for measuring PM in the Northeastern USA.



Quantification of manganese species in particulate matter collected in an urban area nearby a manganese alloy plant

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): A. Hernández-Pellón, P. Mazón, I. Fernández-Olmo

Abstract

A sequential extraction test was used to evaluate the manganese (Mn) species in PM10 samples collected in an urban area impacted by a Mn alloy plant, where the annual guideline value for Mn in air according to the World Health Organization (WHO) is frequently exceeded (i.e. > 150 ng m−3). The average Mn level in this campaign was 208.6 ng m−3, reaching maximum daily values up to 1138.9 ng m−3. Manganese species were dominated by water-soluble Mn (49.9%), followed by metallic Mn (Mn0) and Mn2+ (27.1%), insoluble Mn (14.6%), and Mn3+ and Mn4+ (8.8%). This study reveals, on one hand, the higher fraction of water-soluble Mn species present in atmospheric aerosols in comparison with aerosols collected in work environments of the Mn alloy industry, which is attributed to the reaction between emitted Mn oxides and gaseous pollutants (SO2, NO2 and HCl) during transport in the atmosphere. On the other hand, there was a non-negligible fraction of more toxic species (Mn3+ and Mn4+), which are more potent than Mn2+ to induce reactive oxygen species.



Air pollution modeling and exposure assessment during pregnancy in the French Longitudinal Study of Children (ELFE)

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): Emmanuel Riviere, Julien Bernard, Agnès Hulin, Jonathan Virga, Fabrice Dugay, Marie-Aline Charles, Marie Cheminat, Jérôme Cortinovis, François Ducroz, Anne Laborie, Laure Malherbe, Damien Piga, Elsa Real, Pierre-Yves Robic, Cécile Zaros, Emie Seyve, Johanna Lepeule

Abstract

We developed a nation-wide exposure model to NO2, PM10 and PM2.5 at a fine spatial and temporal resolution for France in order to study air pollutants exposure during pregnancy for the French Longitudinal Study of Children (ELFE).

The exposure to air pollutants was estimated daily for years 2010 and 2011 by combining three simulation models at the national and regional scale (CHIMERE) and at the local urban scale (ADMS-Urban or SIRANE). The spatial resolution was 4 km for the national scale model, 3–4 km for regional models and from 10 to 200 m for urban-scale models. We developed a confidence index (from 0 to 10) based on the target plot to identify the best model to estimate exposure for a given address, year and pollutant. Air pollution exposure during pregnancy was then estimated using each modeling scale for the 17,427 women participating in the ELFE cohort. We described the exposure of the women during different time windows of pregnancy using each of the three models and using the most suitable model as estimated by the confidence index.

The exposure estimates obtained from the three models were quite similar and highly correlated (spearman correlation between 0.64 and 0.96), especially for the national and regional models. For NO2 and PM10 predicted by the urban models, the minimum values were lower and the maximum values and the variability were higher, compared to the regional and national models. The averaged confidence indexes were comprised between 5.6 and 8 depending on the pollutant, year and exposure model considered. The best confidence index was observed for urban modeling (10) and the lowest for the regional modeling (0). In average during pregnancy, using the most suitable model, women were exposed to 21 μg/m3 for NO2, 16 μg/m3 for PM2.5 and 24 μg/m3 for PM10.

To our knowledge, this is the first study combining three modeling tools available at different scales to estimate NO2, PM10 and PM2.5 concentrations at a fine spatial and temporal resolution over a large geographical area. The confidence index provides guidance in the choice of the exposure model. These exposure estimates will be used to investigate potential effects of air pollutants on the pregnant woman health and on health of the fetus and development of the child.



Bioavailable iron production in airborne mineral dust: Controls by chemical composition and solar flux

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): Eshani Hettiarachchi, Richard L. Reynolds, Harland L. Goldstein, Bruce Moskowitz, Gayan Rubasinghege

Abstract

A large part of oceanic biological production is limited by the scarcity of dissolved iron. Mineral dust aerosol, processed under acidic atmospheric conditions, is the primary natural source of bioavailable iron to oceanic life. However, synergistic and antagonistic effects of non-Fe-containing minerals on atmospheric processing of Fe-containing minerals and Fe solubilization are poorly understood. The current study focuses on mineralogical influences of non-Fe-bearing semiconductor minerals, such as titanium dioxide (TiO2), on the dissolution of iron in selected natural mineral dust aerosols under atmospherically relevant conditions. Further, the role of elevated Ti concentrations in dust is evaluated using magnetite, a proxy for Fe(II) containing minerals, under both dark and light conditions. Our results highlight that relatively higher Ti:Fe ratios, regardless of their total Fe content, enhances the total iron dissolution in mineral dust aerosols as well as in magnetite. Moreover, elevated Ti percentages also yield high Fe(II) fractions in mineral dust systems under dark conditions. Upon irradiation however, dissolved Fe(II) is suppressed by high Ti levels due to the involvement of photochemical redox cycling reactions with hydroxyl radicals (OH). These synergistic and antagonistic effects of Ti are further evaluated by altering the chemical composition of natural dusts with artificially added anatase (TiO2) and synthetic amorphous titania. The current study reveals important mineralogical controls by non-Fe-bearing minerals on dust iron dissolution to better understand global iron mobilization.

Graphical abstract

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Assessing the impact of Chinese FY-3/MERSI AOD data assimilation on air quality forecasts: Sand dust events in northeast China

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): Yansong Bao, Liuhua Zhu, Qin Guan, Yuanhong Guan, Qifeng Lu, George P. Petropoulos, Huizheng Che, Gohar Ali, Yan Dong, Zhaokang Tang, Yingjie Gu, Weiyao Tang, Yue Hou

Abstract

Aerosol optical depth (AOD) is an important parameter characterizing the optical properties of atmospheric aerosols and can be used to indicate aerosol loading and evaluate air quality. In this study, a FY-3/medium-resolution spectral imager (MERSI) AOD data assimilation (DA) system was developed using a three-dimensional variational DA method to assess the impact of Chinese FY-3/MERSI AOD data assimilation on air quality forecasts. Two typical sand-dust weather events occurred during the spring season of years 2010 and 2011 were selected as case study. The DA system and Weather Research and Forecasting model coupled with a chemical model (WRF-Chem) were used to evaluate the impacts of FY-3/MERSI AOD DA on air quality forecasts. This was based on comparisons between modeled AOD data and AOD data acquired by the Aerosol Robotic Network (AERONET) and Moderate Resolution Imaging Spectroradiometer (MODIS) satellites. Results from both case studies revealed that FY-3/MERSI AOD DA apparently improved the air quality forecasts. Key findings of the FY-3/MERSI AOD DA experiments included: (1) FY-3/MERSI AOD DA adjusted the simulated aerosol particle content of the WRF-Chem model and efficiently improved the extinction coefficient fields below 500 hPa. Moreover, AOD DA had the strongest effect on adjusting the extinction coefficients at 750 hPa (approximately 2 km). Compared with the AOD background field, the AOD analysis field was similar to the satellite observation field. (2) Compared with the control experiments without DA, the AOD DA experiment produced more accurate 24-h AOD forecasts, more consistent with the AERONET and satellite observations. (3) Due to the spatial distribution and intensity difference of satellite AOD data, satellite AOD data assimilation has obvious individual characteristics for the improvement of particle concentration prediction. Our study findings suggest that the developed DA system can facilitate the effective use of AOD data acquired by Chinese satellites in air quality forecasting models and can improve dust forecasting results.



Climatological study for understanding the aerosol radiative effects at southwest Atlantic coast of Europe

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): M. Sorribas, E. Andrews, J.A. Ogren, A. del Águila, R. Fraile, P. Sheridan, M. Yela

Abstract

In order to describe the means, variability and trends of the aerosol radiative effects on the southwest Atlantic coast of Europe, 11 years of aerosol light scattering (σsp) and 4 years of aerosol light absorption (σap) are analyzed. A 2006–2016 trend analysis of σsp for D < 10 μm indicates statistically significant trends for March, May–June and September–November, with a decreasing trend ranging from −1.5 to −2.8 Mm−1/year. In the 2009–2016 period, the decreasing trend is only observed for the months of June and September. For scattering Ångström exponent (SAE) there is an increasing trend during June with a rate of 0.059/year and a decreasing trend during October with −0.060/year. The trends observed may be caused by a reduction of Saharan dust aerosol or a drop in particle loading in anthropogenic influenced air masses. The relationship between SAE and absorption Ångström exponent is used to assess the aerosol typing. Based on this typing, the sub-micron particles are dominated by black carbon, mixed black and brown carbon or marine with anthropogenic influences, while the super-micrometer particles are desert dust and sea spray aerosol. The mean and standard deviation of the dry aerosol direct radiative effect at the top of the atmosphere (DRETOA) are −4.7 ± 4.2 W m−2. DRETOAfor marine aerosol shows all observations more negative than −4 W m−2 and for anthropogenic aerosol type, DRETOA ranges from −5.0 to −13.0 W m−2. DRETOA of regional marine aerosol ranges from −3 to −7 W m−2, as it consists of a mixture of sea salt and anthropogenic aerosol. The variability in DRETOA is mainly dependent on AOD, given that variations in backscatter fraction and the single scattering albedo tend to counteract each other in the radiative forcing efficiency equation. The results shown here may help in interpretation of satellite retrieval products and provide context for model evaluation.



Estimate of boundary-layer depth in Nanjing city using aerosol lidar data during 2016–2017 winter

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): Sihui Fan, Zhiqiu Gao, John Kalogiros, Yubin Li, Jian Yin, Xin Li

Abstract

The planetary boundary-layer (PBL) structure was investigated using observations from single aerosol lidar, eddy covariance (EC) system, and automatic meteorological station (AWS) in the north of Nanjing city during an air pollution episode in 2016–2017 winter. Based on seven days' observations under clear to polluted day, we present the temporal variations of the aerosol extinction profiles observed by lidar, and then inter-compare PBL depth retrieved from individual gradient methods. The results show that the gradient method (GM) generated the lowest PBL depth. In contrast to the cubic root gradient method (CRGM), which determined PBL depth ranging from 172 m to 1575 m during the observation period, the logarithm gradient method (LGM) and normalized gradient method (NGM) generated similar results and both tended to overestimate PBL depth on polluted days. The CRGM performed better than LGM and NGM in case of multiple backscatter layers and could detect low level layers, while the GM was biased at low heights probably due to the effect of lidar overlap function. Based on these measurements, the evolution of boundary layer structures and PBL depth over clean days and polluted days were compared. The results show that (1) on clean days, the strong surface turbulence exchange make the PBL depth fully developed and the PBL depth had obvious characteristics of diurnal variation; the maximum depth of PBL was 1560 m for CRGM; and (2) on polluted days, the high pressure system and lower wind was favorable to the accumulation of air pollutants, and thus generating less turbulence by reducing surface radiation. These conditions on polluted days led to smaller PBL depth than those on clean days, and the maximum depth of PBL was 660 m for CRGM. Besides, the diurnal variation of PBL depth on polluted days was weaker than those on clean days.



Modelling aerosol optical properties over urban environment (New Delhi) constrained with balloon observation

Publication date: 15 May 2019

Source: Atmospheric Environment, Volume 205

Author(s): A. Ahlawat, S.K. Mishra, V. Goel, C. Sharma, B.P. Singh, A. Wiedensohler

Abstract

Vertical variation in aerosol optical properties [e.g. Single Scattering Albedo (SSA) and aerosol extinction coefficient] over a polluted environment is extremely important for better understanding of columnar radiative characteristics. The present case study over a typical polluted environment (New Delhi) discusses the vertical profile (ground to 700 m) of modelled optical properties of atmospheric particles at different altitudes. Here, we used the aerosol physico-chemical data generated in the tethered balloon-based observation conducted at CSIR-NPL, New Delhi (28° 38′ 10″ N, 77° 10′ 17″ E) from 21st −27th February 2014. Based on the microscopic observations of individual particles, we developed the aerosol model shapes (coated spheres) for simulating their optical properties. Total three cases were considered for simulating the aerosol optics at varying altitude; Case A: External mixture of coated dust and coated sulfate particles; Case B: External mixture of coated dust, coated sulfate, coated OC (Organic Carbon) and coated EC (Elemental Carbon) (with assumption that 6% EC at ground level); Case C: External mixture of coated dust, coated sulfate, coated OC and coated EC (with assumption that 10% EC at ground level). At 550 nm wavelength, the value of SSA has been found to be highest (i.e. 0.985) at 200 m altitude for Case A while Case B (i.e. 0.9523) and Case C (i.e. 0.9291) show highest values at 500 m altitude. SSA was found to be maximum at 500 m altitude for both Case B and Case C due to the presence of lowest graphitic counts at that particular altitude. Case B and Case C exhibit similar pattern but differ in magnitude, this is due to two EC extremities at ground level i.e. minima (6%) and maxima (10%). The percentage deviation in SSA from ground level to 700 m was found to be highest for Case C (i.e. 5.95%) followed by Case B (i.e. 4.19%) and Case A (i.e. 1.4%). Modelled aerosol optical properties within boundary layer may improve our understanding about the thermodynamics of lower atmosphere.



Surgery

A study of arterial pH, bicarbonate levels, and base deficit at presentation as markers of predicting morbidity and mortality in acute pancreatitis
Aditya Varshney, Mohammad Aslam, Junaid Alam

Archives of International Surgery 2018 8(1):1-9

Background: The development of metabolic acidosis can occur commonly during critical illness. It is a clinical disturbance characterized by a low arterial pH, a reduced plasma HCO3&#8722; concentration, and compensatory hyperventilation. An extensive search for objective tools that predict severity and outcome at the time of hospital admission remains a major challenge. Patients and Methods: Patients with acute pancreatitis presenting to our unit between January 2012 and November 2013 were prospectively studied. Arterial blood gas (ABG) analysis was done at admission, and development of organ failure, any need for intervention, and mortality were noted. The association between various parameters of ABG analysis and the development of organ failure or local complications, need for interventions (endoscopic/radiological/surgical), and mortality were analyzed. Results: In all, 100 patients (mean age: 36.25 &#177; 12.86 years; 47.0&#37; males and 53.0&#37; females) were studied. The etiology of acute pancreatitis was Gall stone disease in 52 (52.0&#37;), Alcoholism in 35 (35&#37;), and others in 13 patients (13&#37;). Of the 100 patients, acute fluid collections developed in 84 patients (84&#37;). Multiple organ failure developed in 18 patients (18&#37;). Respiratory failure developed in 68 patients (68&#37;) and renal failure developed in 15 patients (15&#37;), whereas 13 patients (13&#37;) developed shock. Seven of the 19 patients (36.84&#37;) with pH &#8804;7.35 died when compared with 1 of 81 patients (1.23&#37;) with pH &#62;7.35 (P &#61; 0.001). Seven of the 58 patients (13.79&#37;) with bicarbonate &#8804;24 mEq/L died when compared with 1 of 42 patients (2.38&#37;) with bicarbonate &#62;24 mEq/L (P &#61; 0.05). Seven of 36 patients (19.4&#37;) with base deficit &#8805;&#8722;4.0 died when compared with 1 of 64 patients (1.56&#37;) with base deficit &#62;4.0 (P &#61; 0.002). Conclusion: Low arterial pH, low bicarbonate levels, and higher base deficit at presentation predict an adverse outcome with more frequency of organ failure, need for intervention, and mortality. 


Outcome of anterior hypospadias repair: A single center experience
S Pramod, Gagan S Prakash

Archives of International Surgery 2018 8(1):10-15

Background: Hypospadias is a common congenital condition affecting the male phallus. It is characterized by abnormal opening of the urethra on the ventral aspect of the penis with ventral curvature of the phallus (chordee). Various surgical techniques have been described in the treatment of hypospadias. Evaluate the surgical outcome of anterior hypospadias repair including different procedures used to repair distal hypospadias. A retrospective observational study conducted by the Department of Pediatric Surgery, Kempegowda institute of medical sciences hospital, Bangalore from January 2014 to January 2018 over a period of 4 years. Patients and Methods: All children with anterior hypospadias were included in the study. Children underwent either meatal advancement and glanuloplasty (MAGPI) or Snodgrass urethroplasty depending on the type of hypospadias. On follow&#8211;up, children were evaluated for complications. Chi square test was used to test for relationships between categorical variables. Results: Fifty children were included in the study. Age ranges of children were between 9 months to 14 years. Coronal hypospadias was the most common variety (32&#37;). Chordee, undescended testis, inguinal hernia, and penile torsion were observed in 44&#37;, 4&#37;, 6&#37;, and 4&#37;, respectively. On preoperative ultrasonography, renal anomalies were observed in 4 (8&#37;) children. Out of 50 children, 25 underwent MAGPI and remaining 25 underwent Snodgrass repair. Postoperative complication was seen in nine children (18&#37;). Most common complication was urethral fistula seen in five (10&#37;) children followed-by meatal stenosis. Of these nine children with complication, only three children required resurgery. Conclusion: Distal hypospadias is uncommonly associated with renal anomaly, which was once again reiterated in our study. Undescended testis and inguinal hernia were the most common associated anomalies with distal hypospadias. MAGPI is choice in case of glanular and coronal hypospadias with minimal chordee. Snodgrass technique is excellent choice in subcoronal and distal penile hypospadias with chordee. 


Oral and maxillofacial soft tissue reconstruction using local flaps in Sokoto, Northwest Nigeria
Abdurrazaq Olanrewaju Taiwo, Ramat Oyebunmi Braimah, Adebayo Aremu Ibikunle, Micah Olalekan Gbotolorun, Mike Adeyemi, Benedict Chukwuma, Siddiq Abubakar

Archives of International Surgery 2018 8(1):16-20

Background: Owing to the aesthetics and functional concern, oral and maxillofacial soft tissue reconstruction requires meticulous planning with team approach. The aim of this paper is to present our experience in the use of local flaps in the reconstruction of oral and maxillofacial defects. This was a retrospective study of maxillofacial and oral soft tissue reconstruction using local flaps. Patients and Methods: The study was carried out in the Department of Dental and Maxillofacial Surgery, Usmanu Danfodiyo University Teaching Hospital in northwest Nigeria over a 4-year period. Data such as age, sex, diagnosis, types of flaps used, complications and prognosis were collected and analysed with the IBM SPSS Statistics for windows Version 20 (Armonk, NY: IBM Corp). Results: Forty-two out of 64 cases of oral and maxillofacial soft tissue reconstruction (65.6&#37;) met the inclusion criteria for local flap utilisation. They consisted of 27 (64.3&#37;) males and 15 (35.7&#37;) females, with a male:female ratio of 1.8:1. Age ranged from 6 to 72 years with mean &#177; SD (24.2 &#177; 17.7). Temporomandibular joint ankylosis (TMJA) release was the main reason for soft tissue flap utilisation as an interpositional material in the maxillofacial region 30 (77.3&#37;). Temporalis myofascial flap 19 (45.2&#37;) was the commonest flap used. Most of our cases had no associated complications 39 (92.9&#37;), only 2 (4.8&#37;) patients had total flap failure. Conclusion: Where free tissue transfer is not feasible, local flaps remain a viable option. Good patient selection is essential to prevent some of the complications associated with their use. 


Experience with the use of local anesthesia in maxillofacial surgery
Kelvin Uchenna Omeje, Otasowie D Osunde, Benjamin Fomete, Roland Agbara, Thomas Owobu, Abdul Rasheed Suleiman

Archives of International Surgery 2018 8(1):21-26

Background: Recent advances in anesthesia and the need to manage patients&#39; perioperative anxiety along with escalating healthcare costs have resulted in an increasing number of surgical procedures being performed under local anesthesia (LA) especially as day-case surgeries worldwide. To report our experience with performing oral and maxillofacial surgeries under LA highlighting the advantages and limitations. Patients and Methods: This study was a retrospective analysis of patients who underwent maxillofacial surgical procedures under LA at Murtala Mohammed Specialist Hospital, Kano, Nigeria, over a 2-year period (January 2014&#8211;December 2015). Information collated included the patients&#39; demographics, clinical features, diagnosis, surgical operations performed, duration of hospitalization, and complications recorded. The data obtained were analyzed using Statistical Package for Social Sciences version 15.0. Results: A total of 92 patients comprising 58 males and 34 females with varying maxillofacial conditions were operated during the period of the study. Their ages ranged from 12 to 60 years with a mean age of 32 &#177; 4.4 years. The complications recorded in the patients included three cases of malocclusion (3.2&#37;), one case of wound dehiscence (1.1&#37;), paraesthesia of the lower lip in one patient (1.1&#37;), and cardiac arrest in one patient (1.1&#37;). Conclusion: Maxillofacial surgery under LA is a cost-effective approach to surgery with good outcomes in this environment. 


A prospective study of morbidity during adhesiolysis
Hanuman Prasad Gupta, Aditya Sharma, Amit Singh, Rekha Porwal

Archives of International Surgery 2018 8(1):27-31

Background: One of the most common causes of morbidity caused during adhesiolysis is inadvertent enterotomy. It is important to have awareness about the adhesiolysis-related morbidity to properly inform the patients of the risks before surgery, for surgeons to take these risks into consideration while making operative decisions, and to get better at the diagnosis of post-operative complications. Patients and Methods: We did a prospective observational study on 55 patients who underwent laparotomy for adhesiolysis at the J.L.N. Medical College, Ajmer. Study period was 24 months, from January 2015 to January 2017, including a follow-up period of 6 months. Our primary aim was to do a detailed assessment and analysis of adhesiolysis and to assess the post-operative complications related to adhesiolysis. Results: The incidence of full thickness bowel defects was 9 (16.36&#37;). Bowel resection and anastomosis were required in five operations (55.56&#37;). The severity of adhesions and adhesiolysis time was more with patients with two or more previous laparotomies, mean 132 &#177; 40.27 min. Re-admission rates were also much higher in patients who had enterotomy. Conclusion: This study has demonstrated the substantial clinical burden of adhesiolysis, particularly when a bowel defect occurs. 


Maxillectomy: Indications and outcome at a tertiary hospital in Nigeria – A review of 113 cases
Timothy O Aladelusi, Segun A Ogunkeyede, Victor I Akinmoladun

Archives of International Surgery 2018 8(1):32-37

Background: Maxillectomy is the surgical procedure often indicated for the management of tumours and some non-neoplastic conditions arising from or involving the maxilla. This procedure is associated with significant functional and aesthetic deficits with concomitant psychological effect. The aim of this study is to evaluate maxillectomies carried out in our facility over a 16-year period. Patients and Methods: This is a retrospective study of cases of maxillectomy carried out in the Departments of Oral and Maxillofacial Surgery and the Ear, Nose and Throat (ENT) of our hospital from 2000&#8211;2016. The clinical data retrieved from the records of patients included age, gender, presentation, site of lesion, surgical intervention and rehabilitation options. Results: A total of 113 maxillectomies were performed in 52 males and 61 females. The age range was 13&#8211;82 years with a mean age of 37.4 &#177; 16.1 years. Majority of participants are of a low-socioeconomic status. The mean duration of symptoms before presentation was 12.4 months. Malignant lesion (59/113) accounted for the majority of cases seen. Total maxillectomy was the most frequent procedure (53.1&#37;). Recurrence was seen in 20.4&#37; of all cases. Major limitations to therapeutic intervention were lack of fund and late presentation. Conclusion: Delay in presentation and lack of fund remains the main challenges in the management of sinonasal tumours. Management of the maxillectomy defect remains largely limited to rehabilitation with an obturator in our environment. 


Endoscopic management of massive stone load in a patient with repaired bladder exstrophy
Varun Vishnu Agarwal, Mukund Gopalkrishna Andankar, Hemant Rangnath Pathak

Archives of International Surgery 2018 8(1):38-40

Bladder exstrophy is a rare congenital malformation of the genitourinary system. Patients with exstrophy of the bladder who have undergone augmentation cystoplasty with Mitrofanoff procedure have a tendency of recurrent calculi formation. A 23-year-old female, with bladder exstrophy, underwent Mitrofanoff procedure and developed recurrent vesical calculi thereafter. She presented to us with a very massive stone load, which was managed successfully by endoscopic technique. She was also taught preventive measures thereafter and advised regular follow-up. The importance of the report is that it highlights urolithiasis as a recurrent complication of primary bladder exstrophy closure, which can be managed effectively and safely by modern endoscopic techniques in a hostile abdomen with reconstructed tract and inaccessible urethra. 


Unusual presentation of patients with prostate cancer in Zaria: A report of four cases
Ahmad Bello, Musliu Adetola Tolani, Muhammed Ahmed, Ahmed Tijjani Lawal, Dauda Eneyamire Suleiman, Balarabe Kabir, Abdullahi Sudi, Babatunde Kolapo Hamza, Oyelowo Nasir, Abdulsalam Ibrahim Khalifa, Hussaini Yusuf Maitama

Archives of International Surgery 2018 8(1):41-46

Advanced prostate cancer usually presents with lower urinary tract symptoms (LUTS) or metastatic bone disease. Detection of an associated jaundice, suprapubic, or flank mass is unusual in advanced disease just as associated visceral or cutaneous metastasis is quite an uncommon presentation in prostate cancer. We report four cases in this series to highlight the unusual presentations of this cancer with a huge suprapubic mass (case 1); jaundice with associated multiple, nodal, and soft tissue metastasis (case 2); associated retroperitoneal mass (case 3); and synchronous primary renal cancer with background HIV infection (case 4). In conclusion, patients with unusual presentation of prostate cancer may constitute diagnostic dilemma, especially in the setting of retroperitoneal or suprapubic mass. Despite the fact that the findings highlighted in this series were unusual, their response to hormonal ablation was good. 



Neurology and Neurosurgery

Neurosurgical contribution within a complex NF1 supraregional service

Publication date: May 2019

Source: Clinical Neurology and Neurosurgery, Volume 180

Author(s): H. Raffalli-Ebezant, K.J. George, E. Burkitt-Wright, F. Roncaroli, G. Evans, C. Soh, J. Ealing, G. Vassallo, J.E. Elloo, K. Karabatsou

Abstract
Objectives

The goal of this study was to review and present neurosurgical related activity within a multidisciplinary nationally commissioned specialty neurofibromatosis type I (NF1) center.

Patients & methods

We reviewed all NF1 Neurosurgical MDTs, NF1 Neurosurgical clinics and all neurosurgical procedures carried out in NF1 patients over an 8-year period.

Results

Since the inception of the service in 2009, 1505 cases were discussed at our NF-1 multidisciplinary meeting, 171 clinic appointments in complex NF1 patients with neurosurgical pathologies and 43(cranial and spinal) operations were performed.

Conclusions

The formation of a supraregional multidisciplinary team allows for a better understanding of the disease, a comprehensive evaluation of neuroimaging findings and a steep learning curve in the management of NF1 surgical conditions.

We provide holistic treatment for these patients via direct care, specialist advice and liaison with local units.



Intensive blood pressure control reduces the risk of progressive hemorrhage in patients with acute hypertensive intracerebral hemorrhage: A retrospective observational study

Publication date: May 2019

Source: Clinical Neurology and Neurosurgery, Volume 180

Author(s): Jian-Lan Zhao, Zhuo-Ying Du, Yi-Rui Sun, Qiang Yuan, Jian Yu, Xing Wu, Zhi-Qi Li, Xue-Hai Wu, Rong Xie, Jin Hu

Abstract
Objective

To investigate the impact of intensive blood pressure control on progressive intracerebral hemorrhage and outcome in patients with high blood pressure and intracerebral hemorrhage.

Patients and methods

A retrospective study was conducted recruiting 659 patients with acute hemorrhagic stroke between Jan. 2012 and May 2018. Patients recruited before May 2015 were treated with a target systolic level of <180 mm Hg, while those recruited after May 2015 received intensive blood pressure control treatment with a target systolic level of <140 mm Hg within 1 h. Uni- and multi-variate analysis were conducted to illustrate the association between intensive blood pressure control and progressive intracerebral hemorrhage. Mortality, rates of operation, length of ICU stay, modified Rankin scores at 90 days, and the rate of serious adverse events were also compared between the two groups.

Results

A total of 351 and 308 patients with acute hypertensive intracerebral hemorrhage were recruited before and after May 2015, respectively. Progressive intracerebral hemorrhage was identified among 111 out of 659 patients. Patients who received intensive blood pressure control showed a statistically lower rate of hematoma enlarging (43 of 308, 13.9% vs. 74 of 351, 21.1%, p = 0.018). The rates of operation and modified Rankin scores at 90 days were statistically lower with intensive blood control, while the mortality, length of ICU stay and rate of serious adverse events were similar between the two groups. Intensive BP control is an independent factor in predicting hematoma growing, with a more favorable discrimination (AUC = 0.889; 95%CI, 0.859–0.917) than other two models (AUC = 0.821; 95%CI, 0.791–0.852; and AUC = 0.635; 95%CI, 0.588–0.682).

Conclusion

Intensive blood pressure control reduce the risk of progressive intracerebral hemorrhage and improved functional outcomes in patients with acute hemorrhagic stroke.



The role of navigated transcranial magnetic stimulation for surgery of motor-eloquent brain tumors: a systematic review and meta-analysis

Publication date: May 2019

Source: Clinical Neurology and Neurosurgery, Volume 180

Author(s): Giovanni Raffa, Antonino Scibilia, Alfredo Conti, Giuseppe Ricciardo, Vincenzo Rizzo, Adolfo Morelli, Filippo Flavio Angileri, Salvatore Massimiliano Cardali, Antonino Germanò

Abstract

Navigated transcranial magnetic stimulation (nTMS) is an emerging tool for surgery of motor-eloquent intrinsic brain tumors, but a critical reappraisal of the literature evidence has never been performed, so far. A systematic review and meta-analysis was performed searching on PubMed/MEDLINE, and the Cochrane Central Register of Controlled Trials for studies that analyzed the impact of nTMS-based motor mapping on surgery of patients affected by motor-eloquent intrinsic brain tumors, in comparison with series of patients operated without using nTMS. The impact of nTMS mapping was assessed analyzing the occurrence of postoperative new permanent motor deficits, the gross total resection rate (GTR), the size of craniotomy and the length of surgery. Only eight studies were considered eligible and were included in the quantitative review and meta-analysis. The pooled analysis showed that nTMS motor mapping significantly reduced the risk of postoperative new permanent motor deficits (OR = 0.54, p = 0.001, data available from eight studies) and increased the GTR rate (OR = 2.32, p < 0.001, data from seven studies). Moreover, data from four studies documented the craniotomy size was reduced in the nTMS group (-6.24 cm2, p < 0.001), whereas a trend towards a reduction, even if non significant, was observed for the length of surgery (-10.30 min, p = 0.38) in three studies. Collectively, currently available literature provides data in favor of the use of nTMS motor mapping: its use seems to be associated with a reduced occurrence of postoperative permanent motor deficits, an increased GTR rate, and a tailored surgical approach compared to standard surgery without using preoperative nTMS mapping. Nonetheless, a growing need of high-level evidence about the use of nTMS motor mapping in brain tumor surgery is perceived. Well-designed randomized controlled studies from multiple Institutions are clearly advocated to continue to shed a light on this emerging topic.



Methyl-DOPA causing reversible peripheral facial palsy

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Josef Finsterer



Bias in determining factors associated with early seizures after surgery of unruptured intracranial aneurysms

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Mohammad Hossein Panahi, Razieh Bidhendi Yarandi



A rare cause of axial worsening in Parkinson's disease: A case of myasthenic pseudo-parkinsonism

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Massimo Marano, Jacopo Lanzone, Lazzaro di Biase, Alessio Pepe, Alessandro Di Santo, Vincenzo Di Lazzaro



Retrospective analysis of accuracy and positive predictive value of preoperative lumbar MRI grading after successful outcome following outpatient endoscopic decompression for lumbar foraminal and lateral recess stenosis

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Kai-Uwe Lewandrowski

Abstract
Objectives

The aim of this study was to analyze the accuracy and positive predictive value (PPV) of preoperative lumbar MRI grading for successful outcome after outpatient endoscopic decompression for lumbar foraminal and lateral recess stenosis. Lumbar MRI is commonly employed in preoperative decision making to identify symptomatic pain generators amenable to surgical decompression. However, its accuracy and positive predictive value for successful postoperative pain relief after endoscopic transforaminal decompression for sciatica-type back and leg pain has not been reported.

Patients and methods

A retrospective study of 1839 consecutive patients with a mean follow-up of 33 months that underwent lumbar endoscopic transforaminal decompression at 2076 lumbar levels was conducted. The sensitivity, specificity, accuracy, and positive predictive value of preoperative MRI grading correctly identifying the symptomatic surgical level were calculated based on the recorded intraoperatively visualized pathology and clinical outcomes assessed by both Macnab criteria and VAS score reduction.

Results

Of the 1839 patients evaluated, 1750 had intraoperatively visualized stenosis in the lateral recess at the surgical level whereas 89 patients did not. Analysis of radiologist grading of exiting nerve root compression in the lumbar MRI reports in patients with visualized compressive pathology: true positive (1196), false negative (554); as compared with patients without visualized compressive pathology showed: false positive (30), and true negative (59); and allowed for calculation of sensitivity (68.34%), specificity (68.29%), accuracy (68.24%) and the positive predictive value (97.38%) in relation to successful clinical outcome of the subsequent endoscopic decompression surgery. Sensitivity (87.2%), specificity (73.03%), and accuracy (86.51%) improved when the treating surgeon graded same MRI scan for traversing nerve root compression. Taking different spinal stenosis classification systems by the radiologist and surgeon into consideration, Kappa statistic assessment of agreement between radiology and surgeon reporting of stenosis showed different degrees of concordance for extruded herniated disc (κ = 0.42; 331 patients), contained disc herniation (κ = -0.01; 648 patients), and stenosis (κ = 0.25; 860 patients). Disagreement (κ = 0.216; 440 patients) predominantly existed in grading the relevance of foraminal stenosis in the entry- (κ = 0.18; 278/440 patients), mid- (κ = -0.036; 121/440 patients), and less so in the exit zone (κ = -0.036; 41/440 patients) associated with contained (κ = -0.10; 178/440 patients), extruded disc herniations (κ = 0.4; 62/440 patients), and stenosis (κ = 0.25; 200/440 patients).

Conclusion

The grading of a preoperative MRI scan for lumbar foraminal and lateral recess stenosis may significantly differ between radiologist and surgeon. The endoscopic spine surgeon should read and grade the lumbar MRI scan independently to aid in appropriate patient selection for successful transforaminal endoscopic decompression surgery. More contemporary MRI reporting criteria are needed to describe the surgical anatomy in the neuroforamen and lateral recess relevant during the minimally invasive endoscopic transforaminal decompression.



Long-term outcomes of deep brain stimulation in severe Parkinson's disease utilizing UPDRS III and modified Hoehn and Yahr as a severity scale

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Lora Kahn, Mansour Mathkour, Shu Xian Lee, Edna E. Gouveia, Joshua A. Hanna, Juanita Garces, Tyler Scullen, Erin McCormack, Jonathan Riffle, Ryan Glynn, David Houghton, Georgia Lea, Erin E. Biro, Cuong J. Bui, Olawale A. Sulaiman, Roger D. Smith

Abstract
Objectives

Deep brain stimulation (DBS) is the surgical treatment of choice for moderate to severe Parkinson's Disease (PD). However, few studies have assessed its efficacy in severe PD as defined by the modified Hoehn and Yahr scale (HY). This study evaluates long-term and medication outcomes of DBS in severe PD.

Patients and methods

We retrospectively collected the data of 15 patients from 2008 to 2014 with severe PD treated with DBS. Retrospective assessment with the modified Hoehn and Yahr scale and motor subset of the Unified Parkinson's Disease Rating Scale (UPDRS III) were used to objectively track severity and motor function improvement, respectively. Levodopa equivalence daily doses (LEDD), number of anti-PD medications and number of daily medication doses were used to measure improvements in medication burden. Data was evaluated using univariate analyses, one sample paired t-test, two sample paired t-test, and Wilcoxon signed-rank test.

Results

The mean post-operative follow-up was 44.63 months, average age at diagnosis and the average age at time of DBS was 51.3 years and 61.5 years, respectively, and the time from diagnosis to treatment was 13.2 years. Significant decreases were seen in UPDRS III scores (pre-op = 44.533; post-op = 26.13; p = 0.0094), LEDD (pre-op = 1679.34 mg; post-op = 837.48 mg; p = 0.0049), and number of daily doses (pre-op = 21.266; post-op 12.2; p = 0.0046). No significant decrease was seen in the number of anti-PD medications (pre-op = 3.8; post-op = 3.2; p = 0.16).

Conclusion

Following DBS, severe PD patients demonstrated significant improvements in motor function and medication burden during long-term follow-up. We believe our results prove that DBS is efficacious in the management of severe PD, and that further research should follow to expand DBS criteria to include severe disease.



Disability patterns over the first year after a diagnosis of epilepsy

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Ying Xu, Dennis R. Neuen, Nick Glozier, Armin Nikpour, Ernest Somerville, Andrew Bleasel, Carol Ireland, Craig S. Anderson, Maree L. Hackett

Abstract
Objective

To determine the patterns and predictors of disability over the first 12 months after a diagnosis of epilepsy.

Patients and methods

The Sydney Epilepsy Incidence Study to Measure Illness Consequences (SEISMIC) was a prospective, multicenter, community-based study of people with newly diagnosed epilepsy in Sydney, Australia. Disability was assessed using the World Health Organization's, Disability Assessment Schedule (WHODAS) 2.0 12-item version, at baseline (i.e. within 28 days of diagnosis) and 12 months post-diagnosis. Demographic, socioeconomic, clinical and epilepsy-related data, obtained through structured interviews, were entered into multivariable linear regression and shift analysis to determine predictors of greater disability.

Results

Of 259 adults (≥18 years), 190 (73%) had complete WHODAS at baseline (mean ± SD scores 4 ± 6) and follow-up (4 ± 8). After adjustment for age, sex and co-morbidity, greater overall disability at 12 months was associated with lower education (P = 0.05), economic hardship (P = 0.004), multiple antiepileptic medications (P = 0.02) and greater disability (P < 0.001) at the time of diagnosis; these variables explained 38.3% of the variance. Among the 12 WHODAS items, "being emotionally affected by health problems" was the most frequent disability problem identified at both time points (all P < 0.0001). The proportion of participants without problems in that domain improved over 12 months (from 24% to 50%, P < 0.0001), whereas the other 11 items remained relatively stable. Independent baseline predictors of a worse emotional outcome at 12 months were severe/extreme emotional distress (odds ratio [OR] 4.52, 95% confidence intervals [CI] 1.67–12.24), economic hardship (OR 2.30, 95% CI 1.24–4.25) and perceived stigma (OR 2.02, 95% CI 1.03–3.93).

Conclusion

Most people report problems with emotional health after a diagnosis of epilepsy but many recover over the next 12 months. Services addressing the social and psychological impact of diagnosis may be needed to improve outcome.



Predictors of reoperation and noninfectious complications following craniotomy for cerebral abscess

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Michael Longo, Chaim Feigen, Rafael De la Garza Ramos, Yaroslav Gelfand, Murray Echt, Vijay Agarwal

Abstract
Objectives

There is a paucity of literature that examines predictors of reoperation and noninfectious complications following treatment of cerebral abscess with craniotomy. The goal of the present study is to identify predictors for each of these outcomes.

Patients and methods

The American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database 2012–2016 file was the data source. Patients were identified using a combination of CPT and ICD-9/10 codes. Exclusions included missing age/gender, secondary surgery, and absent length of stay information. Univariate followed by multivariable analysis using logistic regression was used to identify significant predictors of reoperation and noninfectious postoperative complications (p < 0.05).

Results

166 patients met the above criteria. Median age was 56 (IQR 44–65) and 68.1% of patients were men. The 30-day reoperation rate was 18.1% and increasing white blood cell count (WBC) was identified as a significant risk factor for reoperation (odds ratio [OR] 1.10, 95% CI 1.02–1.19, p = 0.013). Noninfectious complications occurred at a rate of 20.5% at 30 days. Significant predictors were ASA classification ≥4 (OR 4.13, 95% CI 1.74–9.81, p = 0.001), smoking (OR 3.04, 95% CI 1.18–7.78, p = 0.020), and increasing WBC count (OR 1.11, 95% CI 1.03–1.20, p = 0.007). Emergency case status, abscess location (supratentorial versus infratentorial), nor chronic steroid use demonstrated a significant relationship with the studied outcomes.

Conclusion

Increasing preoperative WBC count predicts both reoperation and noninfectious complications following craniotomy for cerebral abscess. Less modifiable predictors for noninfectious complications which may help anticipate operative risk are smoking and high ASA classification.



Medical Genetics

Updates about ethical, legal and psychological implications of genetic testing in newborns, children and adolescents
Manal M Thomas

Middle East Journal of Medical Genetics 2018 7(2):51-61

Genetic diseases affect physical and psychological health status and social well-being of patients and their families. For that reason, many organizations in the genetic field have published new guidelines on ethical and legal issues regarding genetic testing in children and adolescents. This review article aims to highlight the guidelines regarding quality standards of genetic testing in children and adolescents stressing on the ethical, legal and psychological implications of genetic testing. Specific guidelines on genetic testing and laws must be designed in Egypt to regulate genetic testing and enhance patients&#39; rights putting specific legislations that comply with our traditions and beliefs. More knowledge and educational programs are recommended for health professionals and the public about measures to prevent diseases and promote health behaviors. 


Genetic syndromes with immunological disturbances
Iman Aly Helwa

Middle East Journal of Medical Genetics 2018 7(2):62-77

Generally speaking, immunodeficiency conditions express a genetic component. In some of these cases, patients may request medical advice due to immune disturbance rather than due to genetic abnormality. Sometimes, the immune defect is not encountered in all cases. Yet, in certain cases, it is realized after diagnosis, while in others the immune defect is not the main clinical problem at all. However, immune defects maybe fatal in some syndromes and require urgent intervention. This review presents a brief overview on the immune response and then delineate the genetic syndromes manifesting immunological abnormalities. 


Genome-editing technologies: Advancement, clinical applications, and ethical concerns
Wessam E Sharaf-Eldin, Heba A Hassan, Nagham M El-Bagoury, Mona L Essawi

Middle East Journal of Medical Genetics 2018 7(2):78-87

Genome editing is a powerful technology capable of precisely manipulating somatic and germline genomic sequences. The field is progressing at a rapid pace with unprecedented applications in biology and medicine. This systematic review represents a guide to different mechanisms, tools, and delivery systems used in genome editing. In addition, related ethical concerns are highlighted. So far, the most recent developed tool, clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeats-associated enzyme, represents the most widely used approach owing to its simple application and enhanced efficiency. Hence, the major part of the review focuses on the clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeats-associated enzyme technology and its diverse applicability. 


Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies
Mahmoud Y Issa, Samira Ismail, Nivine Helmy, Alaa K Kamel, Sherine K Amin, Olweya M Abdel Baky, Maha S Zaki

Middle East Journal of Medical Genetics 2018 7(2):88-95

Introduction Corpus callosum (CC) connects the left and right cerebral hemispheres. It is the largest white matter structure in the brain connecting mainly homotopic, as well as heterotopic, brain areas of both hemispheres. It has a major role in everyday behavior. Agenesis of CC can occur as isolated finding on MRI, or more commonly, it is associated with large number of brain anomalies. Patients and methods Neuropsychological and genetic assessment was done for 64 cases with corpus callosum abnormalities, whose age ranged from 6 months to 11 years and 9 months, with a mean age of 3 years and 6 months. This study was done from January 2012 till December 2014. Results Overall, 12.5&#37; of the cases had chromosomal aberrations, 14&#37; of the cases had identified genetic syndrome, and 73&#37; of the cases were nonsyndromic/unclassified. Variable degrees of mental subnormality were encountered among 58 (92.2&#37;) of 64 studied patients. Conclusion Abnormalities of the CC are often associated with cognitive deficits, autism, and epilepsy. 


Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder
Mona L Essawi, Nagham M Elbagoury, Ola M Sayed, Mona S Aglan, Mona M Ibrahim, Hala N Soliman, Ekram M Fateen

Middle East Journal of Medical Genetics 2018 7(2):96-103

Background Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (OMIM: # 253200), is an autosomal recessive lysosomal storage disorder. It is caused by deficiency of the enzyme arylsulfatase B (ARSB), also known as N-acetylgalactosamine-4-sulfatase. ARSB is responsible for the degradation of the glycosaminoglycans dermatan sulfate and chondroitin 4-sulfate. Deficiency of the ARSB enzyme leads to accumulation of partially degraded dermatan sulfate in the lysosomes especially in connective tissues leading to clinical complications. Aim This study aimed at identifying the molecular basis of MPS VI (Mucopolysaccharidosis VI) among 15 Egyptian patients. Method Patients were from 15 families, age ranged from 1year and 5 months to 11 years and 9 months(5.19&#177;0.8) with parental consanguinity in 11 families out of 15 (73.3&#37;). All patients were subjected to all necessary clinical, radiological and biochemical assessments. Molecular assessment was carried out by sequencing the 8 coding exons of the ARSB gene for the fifteen studied patients. Results The disease causing mutations were revealed in 13 patients. Four novel mutations; c.257delA, c.189insA, p.Ser94Leu and p.Leu51Pro were identified as well as four previously reported mutations; p.Leu82Arg, p.Ser96Arg, p.Arg160X and p.Arg160Gln. Conclusion The study highlights the heterogeneity of the mutational pattern which was obvious in finding novel mutations in homozygous forms in approximately 40&#37; of the studied patients. Exons 1 and 2 seem to carry most of the mutations in the Egyptian MPS VI patients. Arginine at position 160 seems to be the most abundant mutational hot spot in the Egyptian MPS VI patients. 


Assessment of serum level of vitamin D in infants and children with Down syndrome
Manal M El-Hawary, Shahira M El-Shafie, Heba El-Awady, Tamer Ragab, Raooth Nabile

Middle East Journal of Medical Genetics 2018 7(2):104-111

Background Vitamin D has multiple extraskeletal functions. Patients with Down syndrome (DS) are at more risk of vitamin D deficiency owing to multiple environmental and hormonal factors, so vitamin D supplementation plays a vital role in their lifestyle. Objective The aim of the study is to assess serum vitamin D level and to study the several factors that may affect its level in infants and children with DS. Patients and methods The study enrolled 50 children, where 30 of them were diagnosed as having DS (group I) and the other 20 were defined as a control group (group II). Detailed systemic examination was performed for all participants. Anthropometric measurements including weight, height, and head circumference were assessed. Blood samples were collected and evaluated for 25-hydroxy vitamin D level. Results The mean serum vitamin D level was 30.65 &#177; 20.64 in group I compared with 55.80 &#177; 22.79 in group II, with significant P value of less than 0.0001. In patients with DS, 6.7&#37; were severely deficient (&#60;10 ng/ml), 53.3&#37; had insufficient serum vitamin D level (10&#8211;32 ng/ml), and 40&#37; had adequate serum vitamin D level (&#62;32 ng/ml). In group II, only 20&#37; had insufficient serum vitamin D level and 80&#37; had adequate level. Conclusion Vitamin D deficiency and insufficiency were more prevalent in patients with DS. Vitamin D insufficiency was also reported in the control group, which indicates that it is a common health problem even among healthy participants. Diet rich in vitamin D, adequate sun exposure, and vitamin D supplements prevent vitamin D deficiency. 


Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders
Hala T El-Bassyouni, Sahar M Abdel Raouf, Mona K Farag, Wasela M Nawito, Tarek M Salman, Khaled R Gaber

Middle East Journal of Medical Genetics 2018 7(2):112-117

Background Approximately 7&#37; of all pregnancies are complicated by gestational diabetes mellitus (GDM). Maternal complications pertaining to GDM are associated with a variety of complications in pregnancy, most notably preeclampsia (PE), which is characterized by an exaggerated systemic inflammatory response. The study aimed to examine the clinical significance of detection of the cytokine tumor necrosis factor alpha (TNF-&#945;) and interleukin-6 (IL-6) in pregnant women with GDM and PE. Patients and methods A total of 60 pregnant women, comprising 25 diagnosed with GDM, 15 with PE, and 20 controls normoglycemic and normotensive, were examined. TNF-&#945; and IL-6 were estimated. Results IL-6 concentration was significantly higher in the pregnant females who developed GDM and PE later during pregnancy compared with the control group (P &#60; 0.0001 and 0.003, respectively). TNF-&#945; concentration showed only significant difference in the women who developed GDM later during pregnancy when compared with the control group (P &#60; 0.0001). Conclusion TNF-&#945; and IL-6 have been proposed to play an important role in the prediction of the pathogenesis of GDM and PE. 


Genetic study of the association of specific language impairment to markers near FOXP2 gene
Mohammed M Sayed-Ahmed, Samira Ismail, Alia M El-Shoubary, Mona L Essawi, Moushira E Zaki, Ahmed N Khattab

Middle East Journal of Medical Genetics 2018 7(2):118-123

Background One important language gene is FOXP2, a mutation of which affects language and speech in relatively rare and severe forms. However, certain genetic markers adjacent to FOXP2 gene are highly suspected to be involved in common forms of specific language impairment (SLI). Identification of these genetic loci related to SLI may yield new insights into its causes, along with improved diagnosis, and treatment. Aim of the work To study the association of SLI to two genetic markers residing near FOXP2 gene, namely, the repeat unit GATA of D7S3052 marker and GATT tetranucleotide repeats in intron 6 of CFTR gene. Patients and methods The current study included 50 children with SLI and 50 normal controls, aged 3&#8211;8 years. All participants were subjected to genetic molecular association study as well as detailed protocol of assessment including full history and examination, and evaluation of language skills and mental ability (intelligence quotient). Results There was no difference between the SLI and normal groups regarding molecular results of GATT repeats of CFTR gene, and there was a nonsignificant difference regarding results of GATA repeats of D7S3052 marker (P &#62; 0.05). Conclusion The association of SLI with D7S3052 marker near FOXP2 gene in current study is statistically nonsignificant. However, a statistical significance of this association could be expected with a larger number of cases, more diversity of SLI types and degrees, and more comprehensive procedures. 


MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155
Nnaemeka D Ndodo, Barnabas Danborno, Samuel S Adebisi

Middle East Journal of Medical Genetics 2018 7(2):124-131

Background MicroRNAs (miRNAs) are conserved short 22-nucleotide RNAs with important roles in regulating gene expression. Misregulation of genes that control cell-cycle and cell-fate determination often contributes to cancer. The aims of this work were to evaluate the expressions of two oncogenic miRNA (oncomiRs), miR-21 and miR-155, in lung cancer, and to see whether reintroduction or inhibition of these would affect progression or aid sensitivities of the lung cancer cells to major chemotherapeutics. Methods This work involved cell culture of lung adenocarcinoma cells H358 and A549 and normal lung cells. It compared the miRNA expression profiles of two miRNAs (miR-21 and miR-155) in cancer and normal lung cell lines using real-time PCR and then treated with three known chemotherapeutics, namely cisplatin, etoposide and paclitaxel, and concluded by inhibiting overexpressed miRNA by transfecting the cancer cells with miRNA inhibitors, and proliferation was measured with sulforhodamine-B assay. Results showed that miR-21 was overexpressed in the entire cell lines used, which is consistent with the role of miR-21 as an oncomir, whereas miR-155 was downregulated, suggesting that miR-155 could be acting as a tumor suppressor. Furthermore, inhibition of miR-21 function in H358 lines using 50 nM Ambion anti-miR led to a decreased proliferation of H358 cells compared with the 50 nM anti-miR-155-treated group. Downregulation of miR-21 seems to sensitize lung cancer cells to chemotherapeutics (etoposide). Conclusion This work demonstrated that miR-21 at 50 nM might sensitize lung cancer cells to chemotherapeutics (etoposide) and that miR-155, a known oncogenic miRNA, seems to be acting as a tumor suppressor in lung cancer, which promises to be of immense therapeutic importance. 


Fragile X syndrome: diagnosis by molecular characterization of FMR1 gene and clinical correlation
Hoda M Abd El-Ghany, Eman A Ehssan, Menatalla K El-Deen, Rasha A Al-Gamal, Rania M Samy, Amany S El-Deen

Middle East Journal of Medical Genetics 2018 7(2):132-138

Background One of the most common forms of inherited intellectual disability (ID) is fragile X syndrome (FXS), which is caused by expansion of cytosine&#8211;guanine&#8211;guanine trinucleotide repeat at the 5&#8242; untranslated region of the fragile X mental retardation gene (FMR1) at Xq27. The cytosine&#8211;guanine&#8211;guanine repeat expansion leads to hypermethylation and inactive transcription of the gene. The present study aimed to detect expected FMR1 gene alleles by methylation-sensitive PCR and its clinical correlation for rapid screening of FXS among male patients with ID. Patients and methods The study included 50 male patients with ID and clinical features suggestive of FXS, who were compared with 50 healthy age-matched volunteers. All patients were subjected to full history taking, thorough clinical examination using a 15-item checklist [physical (big ears, joint hyperextensibility, Simian crease, wide forehead, macroorchidism, and elongated face) and neurological features (mental retardation, family history of mental retardation, poor eye contact, hand biting, hyperactivity, perservative speech, tactile defensiveness, hand flapping, and short attention span)], and karyotyping using GTG banding. Methylation-sensitive PCR technique after bisulfite treatment of DNA was applied for the detection of expanded alleles of the FMR1 gene. Results Clinical score in patients with abnormal alleles was significantly higher compared with patients with normal alleles. GTG-banding technique showed normal 46XY male karyotype for studied patients. Frequency of normal FMR1 gene alleles was detected in the control group (100&#37;) and 44 (88&#37;) patients. Abnormal alleles were detected in six (12&#37;) patients: three (6&#37;) patients with full mutation (FM) and three (6&#37;) patients with premutation carrier. Conclusion Our study revealed that PCR-positive results of fragile X correlate with the checklist clinical score rather than a single clinical entity. 



Microscopy and Ultrastructure

Potential toxic effect of bisphenol A on the cardiac muscle of adult rat and the possible protective effect of Omega-3: A histological and immunohistochemical study
Noha Gamal Bahey, Hekmat Osman Abd Elaziz, Kamal Kamal Elsayed Gadalla

Journal of Microscopy and Ultrastructure 2019 7(1):1-8

Bisphenol A (BPA) is intensely used in the production of polycarbonate plastics and epoxy resins. Recently, BPA has been receiving increased attention due to its link to various health problems that develop after direct or indirect human exposure. Previous studies have shown the harmful effect of high doses of BPA; however, the effect of small doses of BPA on disease development is controversial. The aim of this study was to investigate the effect of a low dose of BPA on the rat myocardium and to explore the outcome of coadministration of Omega-3 fatty acid (FA). Thirty adult male rats were divided equally into control group, BPA-treated group (1.2 mg/kg/day, intraperitoneally for 3 weeks), and BPA and Omega-3-treated group (received BPA as before plus Omega-3 at a daily dose of 300 mg/kg/day orally) for 3 weeks. Exposure to BPA resulted in structural anomalies in the rat myocardium in the form of disarrangement of myofibers, hypertrophy of myocytes, myocardial fibrosis, and dilatation of intramyocardial arterioles. On the other hand, mast cell density and media-to-lumen area ratio were not significantly altered. Interestingly, concomitant administration of Omega-3 FAs with BPA significantly reduced BPA-induced changes and provided a protective effect to the myocardium. In conclusion, exposure to a low dose of BPA could potentially lead to pathological alterations in the myocardium, which could be prevented by administration of Omega-3 FA. 


Light and scanning electron microscopic examination of the chicken oviduct during the embryonic and posthatching stages
Mohamed A.M. Alsafy, Samir A.A. El-Gendy, Ashraf A Karkoura, Doha Naguib

Journal of Microscopy and Ultrastructure 2019 7(1):9-13

The present study aimed to study the sequence of developing the oviduct of the Alexandria chicken during the embryonic and posthatching period by using the light and scanning electron microscopic (SEM) examination. The Mullerian duct began to appear as left and right urogenital ridges composed of stratified cuboidal epithelium at the ventrolateral aspect of the mesonephros at the 5-day-old embryo. At the 6-day-old embryo, the left urogenital ridge canalized and the tubal wall surrounded a circular lumen composed of three cellular components; inner simple columnar epithelium, multilayers of mesenchymal cells, and outer stratified cuboidal epithelium. At the 8-day-old embryo, the inner tubal layer became composed of simple-to-pseudostratified ciliated columnar epithelium, the density of the mesenchymal cells increased, and the outer layer became simple squamous epithelium at the medial aspect of the duct and stratified epithelium at the lateral aspect of the duct. The left oviduct of the 1-day-old chick resembled the oviduct of 8-day-old embryo except the SEM observations of the tunica mucosa of the 1-day-old chick which showed extensive mucosal folds with many straight cilia. At the 1-week-old chick, the left oviduct showed a folded lumen surrounded by simple columnar ciliated epithelial layer followed by a layer of mesenchymal cells, many layers of smooth muscles surrounded the mesenchymal cells layer and outer simple squamous epithelium layer. At the 1-month-old chick, the left oviduct wall was composed of five layers surrounded by a star-shaped lumen. 


Ultrastructural studies of acrosomal formation in the testis of male greater cane rat (Thryonomys swinderianus)
AO Adebayo, AK Akinloye, AO Ihunwo, VO Taiwo, BO Oke

Journal of Microscopy and Ultrastructure 2019 7(1):14-18

Purpose: In furthering the understanding of the process of spermatogenesis in the greater cane rat, this study describes the ultrastructural spermiogenic transformation and acrosomal formation in the testes of this hystricomorphic rodent that is currently undergoing domestication in parts of West Africa. Materials and Methods: Testicular samples were obtained from ten sexually mature cane rats that were perfused-fixed using Karnovsky&#39;s fixative (phosphate buffered 2&#37; paraformaldehyde &#8211; 2.5&#37; glutaraldehyde fixative at pH 7.4). The samples were processed for ultrastructural analysis and examined under the transmission electron microscope. Results: The testes of the cane rat showed uniqueness in its cellular associations and the ultrastructure of the spermatogenic cells especially in the formation of the acrosome. The spermatid differentiation and acrosomal formation occurred in 12 steps with the first three steps being the Golgi phase and the next three steps making up the cap phase. While the three steps that follow constitute the acrosomal phase, the last 3 steps make up the maturation phase. At the cap and acrosomal phases, the entire acrosomal system comprising the vesicle and granule covers the head of the spermatids with no clear indentation of the nuclear surface by the formed acrosome. Furthermore, elongated spermatids at the maturation phase contained abundance of nuclear vacuoles. Conclusion: This work has not only provided information that will further the understanding of spermatogenesis but also aid the understanding of acrosomal reaction in the reproduction of the greater cane rat. 


Immunohistochemical expression of E- and N-Cadherin in nodular prostatic hyperplasia and prostatic carcinoma
Rania Abdallah Abdallah, Asmaa Gaber Abdou, Moshira Abdelwahed, Hend Ali

Journal of Microscopy and Ultrastructure 2019 7(1):19-27

Background: Different theories have been postulated to explain the development of nodular prostatic hyperplasia (NPH). Epithelial to mesenchymal transition (EMT) is a physiologic process in which the epithelial cells lose their polarity and cell-cell adhesion and acquire a mesenchymal phenotype. Aim: The aim of the present study is to investigate the potential role of E- and N-cadherin in the induction of EMT in NPH and prostatic carcinoma. Methods: This study was carried out on 55 cases of NPH and 20 cases prostatic carcinoma for evaluation of immunohistochemical expression of E and N cadherins. Results: Most NPH (54/55 cases, 98.2&#37;) and all cases of prostatic carcinoma showed positive N-cadherin expression in prostatic glands and stroma. High percentage of N-cadherin expression by stromal cells was significantly in favor of prostatic carcinoma compared to NPH. High percentage of N-cadherin expression by epithelial cells of carcinoma group was significantly associated with young age while its high expression by stromal cells was significantly associated with multicentricity. About 96.4&#37; of NPH and 75&#37; of prostatic carcinoma showed positive E-cadherin expression with a significant difference. No significant association between E-cadherin and N-cadherins in both NPH and prostatic carcinoma was identified. Conclusions: The prominent expression of N-cadherin in large numbers of NPH and prostate carcinoma cases in the epithelial and stromal components could point to the occurrence of EMT in those diseases. It also opens a new gate for treatment of those patients by targeting N-cadherin molecule. The absence of inverse association between E-cadherin and N-cadherins in NPH and prostatic carcinoma may indicate that cadherin switch is not an essential step for the development of EMT. 


Cytotoxic effects of extract of Acmella oleracea in the ovaries and midgut of Rhipicephalus sanguineus Latreille, 1806 (Acari: Ixodidae) female ticks
Patrícia Rosa de Oliveira, Luis Adriano Anholeto, Rodney Alexandre Ferreira Rodrigues, Andr&#233; Arnosti, Gerv&#225;sio Henrique Bechara, Karina Neoob de Carvalho Castro, Maria Izabel Camargo-Mathias

Journal of Microscopy and Ultrastructure 2019 7(1):28-43

The present study investigated the effects of different concentrations of Acmella oleracea extract on the germinative cells and digestive processes of semi-engorged Rhipicephalus sanguineus females. For this experiment, 150 ticks were divided into five groups (30 individuals each). The animals were immersed for 5 min in different concentrations of the extract, distilled water, or ethanol 50&#37;/DMSO 1&#37;, dried, and kept in biological oxygen demand incubator for 7 days. The alterations were associated with the size of germinative cells and yolk granules; presence, size, and location of vacuoles in the cytoplasm of germinative cells; nuclear modifications in the germinative cells; damages to the nucleus and cytoplasm of the midgut generative cells; size of digestive cells; number of captured blood elements; accumulated digestive residues and digestive vacuoles in the digestive cells cytoplasm; and the number and distribution of proteins and polysaccharides in all the cells of both organs. The concentrations used in this study prevented an efficient and complete blood digestion by the midgut epithelial cells of the treated animals, resulting in the absence of the necessary nutrients to maintain the physiological events in the ectoparasites. In advanced stages, This can lead the ectoparasite to death. The germinative cells were highly impaired and probably not able to advance developmental stages (I&#8211;V) or complete vitellogenesis to be released during ovulation, which would prevent the females from originating a new individual. Thus, it can be concluded that the effects of A. oleracea are similar to those caused by chemical products widely recognized as effective to control ticks. 


Renal oxidative stress and inflammatory response in perinatal Cyclosporine-A exposed rat progeny and its relation to gender
Hany M El-Bassossy, Mohammed A Hassanien, Abdulhadi Bima, Fatma M Ghoneim, Ayman Zaky Elsamanoudy

Journal of Microscopy and Ultrastructure 2019 7(1):44-49

Background and Aim of the Work: The current study postulated that cyclosporine A (CSA) could induce gender-specific renal damage. Hence, the current study aims to investigate the nephrotoxic effect of perinatal exposure of male and female rat progeny to CSA. Moreover, it aims to evaluate the oxidative stress and inflammation as a possible pathophysiologic mechanism. Materials and Methods: Female rats were randomly allocated to two groups of four and assigned to undergo either CSA (15 mg/kg/day; the 6th day after conception and continuing until the progeny were weaned) or vehicle treatment as control groups. At the age of 6 weeks, the progeny were divided into the following four groups: male progeny of control-group mothers (M-vehicle, 7); male progeny of CSA-treated mothers (M-CSA, 9); female progeny of control-group mothers (F-vehicle, 7); and female progeny of CSA-treated mothers (F-CSA, 6). Serum adiponectin, tumor necrosis factor-&#945; (TNF-&#945;) and creatinine, creatinine clearance, and urinary 8-isoprostane were measured. Histopathological examination by hematoxylin and eosin stain of Kidney was carried out. Results: Proteinuria and decreased creatinine clearance are significant in M-CSA than M-vehicle and F-CSA. 8-isoprostane is lower in F-CSA than F-vehicle. Increased TNF-&#945; and decreased adiponectin levels in M-CSA than M-vehicle were observed. No significant differences were found in female rat groups. Conclusion: From the current study, it could be concluded that CSA could induce renal inflammation as well as oxidative stress that may explain the impaired renal function. The sex difference was a prominent finding in their vulnerability to CSA effects. 


Orbital Rosai–Dorfman disease: A case report and literature review
Basim Al-Maghrabi, Tarek Elnaggar, Osama Alamri, Jaudah Al-Maghrabi

Journal of Microscopy and Ultrastructure 2019 7(1):50-52

A 53-year-old male presented with dropping of the right eyelid associated with decreased visual acuity for 4 months. He also complained of vertical diplopia especially when looking down. Ophthalmological examination revealed right blepharospasm associated with right hypertropia. There was palpable mass at the inferomedial aspect of the right eye. Magnetic resonance imaging revealed abnormal signal intensity in the right orbit inferior aspect occupying the orbital floor and measured 2.7 cm &#215; 2.5 cm &#215; 1.2 cm and showed enhancement on the postcontrast study. The patient underwent complete excision of the tumor. Histological examination of the mass revealed histiocytic proliferation with emperipolesis, with positive S100, positive CD68, and negative CD1a staining. These histological and immunohistochemical features are consistent with extranodal Rosai&#8211;Dorfman disease. There was no complication or recurrence after the complete excision.