Author’s reply to comment on: is it possible to prevent recurrent vulvovaginitis? The role of Lactobacillus plantarum I1001 (CECT7504)

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Disorders of sex development (DSD): not only babies with ambiguous genitalia. A practical guide for surgeons

Abstract

Introduction and methods

In this review, we describe the common clinical scenarios that may be present to a paediatric surgeon when a patient has a disorder of sex development (DSD). Our aim was to prepare surgeons so that they can respond with correct approaches to diagnose and manage the given situations.

Results

DSD present in three distinct clinical situations: in the neonate with some abnormality of the external genitalia; in the child undergoing surgical treatment for inguinal hernia or during open or laparoscopic orchidopexy or during hypospadias correction; and at or after puberty, which may be precocious or delayed or in an adolescent girl with masculinisation at puberty. We describe the clinical features, likely diagnoses and the recommended management pathway in these scenarios.

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Ultrasound-guided core needle biopsy in the diagnosis of neuroblastic tumors in children: a retrospective study on 83 cases

Abstract

Aim

Ultrasound-guided biopsy technique with the large-core needle has widely been applied in the diagnosis of adult abdominopelvic cavity, thyroid, and neck tumors. There are few reports on ultrasound-guided biopsy using large-core needle in pediatric abdominopelvic cavity tumors. This study was to evaluate the ultrasound features and the diagnostic value of ultrasound-guided core needle biopsy for pediatric neuroblastic tumors.

Methods

The pediatric patients with neuroblastic tumor that underwent ultrasound examination and ultrasound-guided core needle biopsy from January 2009 to November 2015 were reviewed. A minimum of two cores in each case was obtained. The biopsy results were confirmed by subsequent surgical histopathology. The ultrasound features and the diagnostic accuracy of ultrasound-guided core needle biopsy were evaluated.

Results

Eighty-three patients were enrolled into the study. Conventional ultrasound examination showed irregular hypoechoic or mixed echo masses and calcification and liquefied necrosis. The diagnostic accuracy of ultrasound-guided core needle biopsy was 96.4% (80/83). Three cases were misdiagnosed because of inadequate tissue sample. No serious complication, infection, or needle track seeding occurred.

Conclusions

Ultrasound-guided core needle biopsy seems to be an accurate, minimally invasive, and safe diagnostic method of pediatric neuroblastic tumor.

http://ift.tt/2hguaN7

Dopaminergic medication unrelated myoclonus is less related to tremor in idiopathic Parkinson’s disease

Abstract

Myoclonus in Parkinson's disease (PD) may be related or unrelated to dopaminergic medication and may share some features of cortical myoclonus. The aim of this study was to analyze clinical and electrophysiological correlates of the dopaminergic treatment unrelated myoclonus in PD patients. We included 17 PD patients with the end-of-dose myoclonus and 16 PD patients without myoclonus between January 2010 and June 2011. Surface electromyography of upper extremity muscles and long latency reflexes (LLRs) were performed. Positive or negative myoclonus with a duration of 35–100 ms was observed. Rest tremor was less frequent in the group with myoclonus. Only one PD patient with myoclonus had C reflex. Mean LLR amplitude was significantly high in PD with myoclonus compared to the group without myoclonus (p = 0.024). Dopaminergic treatment unrelated myoclonus is less related to rest tremor in PD, may be positive or negative, and exhibits similar features to cortical myoclonus.

http://ift.tt/2hJIjDj

Coordinated shift of olfactory amino acid responses and V2R expression to an amphibian water nose during metamorphosis

Abstract

All olfactory receptors identified in teleost fish are expressed in a single sensory surface, whereas mammalian olfactory receptor gene families segregate into different olfactory organs, chief among them the main olfactory epithelium expressing ORs and TAARs, and the vomeronasal organ expressing V1Rs and V2Rs. A transitional stage is embodied by amphibians, with their vomeronasal organ expressing more 'modern', later diverging V2Rs, whereas more 'ancient', earlier diverging V2Rs are expressed in the main olfactory epithelium. During metamorphosis, the main olfactory epithelium of Xenopus tadpoles transforms into an air-filled cavity (principal cavity, air nose), whereas a newly formed cavity (middle cavity) takes over the function of a water nose. We report here that larval expression of ancient V2Rs is gradually lost from the main olfactory epithelium as it transforms into the air nose. Concomitantly, ancient v2r gene expression begins to appear in the basal layers of the newly forming water nose. We observe the same transition for responses to amino acid odorants, consistent with the hypothesis that amino acid responses may be mediated by V2R receptors.

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Dynamic landscape of alternative polyadenylation during retinal development

Abstract

The development of the central nervous system (CNS) is a complex process that must be exquisitely controlled at multiple levels to ensure the production of appropriate types and quantity of neurons. RNA alternative polyadenylation (APA) contributes to transcriptome diversity and gene regulation, and has recently been shown to be widespread in the CNS. However, the previous studies have been primarily focused on the tissue specificity of APA and developmental APA change of whole model organisms; a systematic survey of APA usage is lacking during CNS development. Here, we conducted global analysis of APA during mouse retinal development, and identified stage-specific polyadenylation (pA) sites that are enriched for genes critical for retinal development and visual perception. Moreover, we demonstrated 3′UTR (untranslated region) lengthening and increased usage of intronic pA sites over development that would result in gaining many different RBP (RNA-binding protein) and miRNA target sites. Furthermore, we showed that a considerable number of polyadenylated lncRNAs are co-expressed with protein-coding genes involved in retinal development and functions. Together, our data indicate that APA is highly and dynamically regulated during retinal development and maturation, suggesting that APA may serve as a crucial mechanism of gene regulation underlying the delicate process of CNS development.

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Root-associated bacterial diversities of Oryza rufipogon and Oryza sativa and their influencing environmental factors

Abstract

Oryza rufipogon is the ancestor of human-cultivated Oryza sativa. However, little is known about the difference between the root-associated microorganisms of O. rufipogon and O. sativa. In this study, the root-associated bacteria of O. rufipogon, Leersia hexandra, and O. sativa from different latitudes in China were studied by DGGE analysis. Their bacterial community structures were compared by principal component analysis. The relationship between root-associated bacteria and soil properties was explored by canonical correspondence analysis. The relationships of glomalin-related soil protein (GRSP) content, soluble sugar content, proline content of the plant, and bacterial diversity indices of their root-associated microorganisms were also investigated. We found both broad-spectrum and host-specific bacteria, and the similarity, diversity and abundance indices of O. rufipogon and L. hexandra were higher than O. sativa root-associated bacteria. However, even living in the same habitat, O. rufipogon and L. hexandra selected different root-associated bacteria. Microbial composition was primarily correlated with available N, P, and K and the annual precipitation. We also found a positive correlation between the soluble sugar content of the plant and GRSP content of the root soil. The above results indicated that the community structure of root-associated bacteria differs between wild rice and cultivated rice. Human activity and the natural selection of the host plants shaped the differences, consistent with our hypothesis.

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Approach to Lynch Syndrome for the Gastroenterologist

Abstract

Lynch syndrome is an autosomal-dominant hereditary cancer syndrome. Mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are implicated in the pathogenesis of the syndrome through microsatellite instability (MSI) and a rapid adenoma–carcinoma sequence. The primary methodologies for diagnosis include clinical criteria (Amsterdam I/II, Revised Bethesda Guidelines), computational models, and genetic testing (MSI, immunohistochemistry, germline testing). Universal genetic testing of colorectal cancers has gained popularity as a method to identify high-risk individuals and to offer appropriate cancer surveillance, psychological reassurance, and family planning. Management includes short-interval surveillance with colonoscopy in those without colorectal cancer and colectomy for those with cancer. Long-term chemoprevention with aspirin may improve mortality.

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Creation of a novel risk score for surgical site infection and occurrence after ventral hernia repair

Abstract

Background

Complex ventral hernia repair (VHR) is a common surgical operation but carries a risk of complications from surgical site infections (SSI) and occurrences (SSO). We aimed to create a predictive risk score to identify patients at increased risk for SSO or SSI within 30 days of surgery.

Methods

Data were prospectively collected on all patients undergoing VHR between January 2008 and February 2015 by a single surgeon. Multivariable logistic regression was used to identify independent factors predictive of SSO and SSI. Significant predictors of SSO and SSI were assigned point values based on their odds ratios to create a novel risk score, the Hopkins ventral hernia repair SSO/SSI risk score; predicted and actual rates of outcomes were then compared using weighted regression.

Results

During the study period, 362 patients underwent open VHR. Thirty-day SSO and SSI occurred in 18.5 and 10% of patients, respectively. After risk adjustment, ASA class ≥3 (1 point), operative time ≥4 h (2 points), and the absence of a postoperative wound vacuum dressing (1 point) were predictive of 30-day SSO. Predicted risk of SSO utilizing this scoring system was 9.7, 19.4, 29.1, and 38.8% for 1, 2, 3, and 4 points (AUC = 0.73). For SSI, operative time ≥4 h (1 point) and the lack of a wound vacuum dressing (1 point) were predictive. Predicted risk of SSI based on this scoring system was 12.5% for 1 point and 25% for 2 points (AUC = 0.71). Actual vs. predicted rates of SSO and SSI correlated strongly for risk model with a coefficient of determination (R ²) of 0.92 and 0.91, respectively.

Conclusion

The novel Hopkins ventral hernia repair risk score accurately predicts risk of SSO and SSI after complex VHR. Further studies using a prospective randomized controlled trial will be needed to further validate our findings.

http://ift.tt/2hW9cqC

Cardiovascular risk assessment in patients with rheumatoid arthritis: a correlative study of noninvasive arterial health testing

Abstract

This study aimed to determine the relationship between noninvasive measures of arterial health and both estimated 10-year cardiovascular risk and measures of disease activity over time in established rheumatoid arthritis. Fifty rheumatoid arthritis patients underwent noninvasive arterial health testing (brachial artery reactivity, aortic augmentation index [AIx], pulse wave velocity, carotid artery intima-media thickness, and carotid artery plaque presence) and assessment of clinical disease activity (tender or swollen joint counts, Clinical Disease Activity Index [CDAI], and Health Assessment Questionnaire II [HAQ-II]). Clinical measures during 3 years before the study visit were averaged. Arterial health testing was compared with the American Heart Association/American College of Cardiology (AHA/ACC) Pooled Cohort Equation. Spearman methods identified correlations between disease activity measures, cardiac biomarkers, and arterial health parameters. Among the patients (mean age, 57.5 years), disease activity was moderate (mean [SD] CDAI, 16.9 [15.3]). At the study visit, corrected aortic augmentation index correlated with CDAI (r = 0.37, P = .009) and HAQ-II (r = 0.33, P = .02). AIx correlated with time-averaged tender joint count (r = 0.37, P = .008), CDAI (r = 0.36, P = .01), HAQ-II (r = 0.36, P = .01), swollen joint count (r = 0.36, P = .10), patient global assessment (r = 0.33, P = .02), physician global assessment (r = 0.35, P = .01), and pain score (r = 0.38, P = .007). The AHA/ACC low-risk group (<5% 10-year risk) had highest prevalence of carotid plaques. Arterial health testing may identify increased risk of cardiovascular disease compared with risk obtained through AHA/ACC Pooled Cohort Equation. Measures of arterial stiffness correlate with the burden of disease activity over time.

http://ift.tt/2hxaozJ

CD28, CTLA-4 and CCL5 gene polymorphisms in patients with rheumatoid arthritis

Abstract

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by joint destruction caused by infiltrating leukocytes including T cells. An important role in T cell co-stimulation is played by the CD28, as a stimulatory signal transducer and the inhibitory CTLA-4. CCL5 is produced by circulating T cells and plays an active role in the chemotactic activity of T cells in RA. The aim of this study was to examine the associations between polymorphisms within CD28, CTLA-4, and CCL5 genes and RA. We examined 422 patients (340 female, 82 male, mean age 57.5 ± 12.5 years) with rheumatoid arthritis and 338 healthy subjects (261 female, 77 male). Disease activity was determined on the basis of DAS28 score. The patients with DAS28 of ≤2.5 were classified as subjects in remission of disease symptoms; the patients who had DAS28 of >2.5 were classified as subjects with active form of RA. There were no statistically significant differences in the distribution of studied genotypes and alleles between RA patients and the control group. A statistically significant difference was observed in the distribution of CTLA4 exon 1 +49A>G rs231775 genotypes between patients with DAS28 ≤ 2.5 and DAS28 > 2.5 where the increased frequency of AA genotype among patients with DAS28 > 2.5 was revealed (OR 1.55; 95% CI 1.01–2.38). The results of our study suggest no significant association between CD28 rs1980422, CCL5 rs2107538, CTLA-4 exon 1 +49A>G rs231775 and rs3087243 gene polymorphisms and RA in the Polish population. Our results indicate a possible association between CTLA-4 exon 1 +49A>G rs231775 gene polymorphism and RA activity.

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A Case of Renal Tubular Acidosis with Sjogren’s Syndrome Showing Paradoxical Block of PTH Due to Severe Hypomagnesemia

Abstract

Distal renal tubular acidosis (RTA) manifests either as Complete/Classical form or Incomplete/Latent Form. Distal RTA causes normal anion gap metabolic acidosis and hypokalemia. Interstitial Nephritis is the most frequent renal manifestation of Sjogren's, which presents as Distal RTA in 25–40% of patients with Sjogren's syndrome. Magnesium deficiency is frequently associated with hypokalemia. Although serum calcium is the main physiological control for the secretion of parathyroid hormone (PTH) by the parathyroid, serum magnesium can also exert similar effects. While low levels of magnesium stimulate the secretion of PTH, very low serum concentrations tend to induce a paradoxical block of PTH release by activation of the alpha-subunits of heterotrimeric G-proteins. This mimicks the activation of calcium sensing receptor leading to inhibition of PTH secretion. Here we describe the case history of a 35-year-old lady who presented to our hospital with severe hypokalemia due to distal RTA and perhaps had a paradoxical block of PTH secretion in the setting of severe hypomagnesemia.

http://ift.tt/2hIyms6

Atherogenic Dyslipidemia Remission 1 Year After Bariatric Surgery

Abstract

Purpose

Given the lack of evidence of the effect of bariatric surgery (BS) on atherogenic dyslipidemia (AD), which is a characteristic of obese subjects, this study aimed to describe the remission rate of AD 1 year after BS in severely obese patients.

Materials and Methods

A non-randomised, prospective cohort study was conducted in patients undergoing laparoscopic Roux-en-Y gastric bypass or laparoscopic sleeve gastrectomy with a 1-year follow-up. AD was defined as triglycerides ≥1.71 mmol/l or treatment with fibrates and low high-density lipoprotein (HDL) cholesterol (<1.03 mmol/l in men or <1.3 mmol/l in women).

Results

AD was present in 81 (22.8%) of the 356 patients; these were more frequently men and presented higher total cholesterol and non-HDL cholesterol concentrations. AD remission rate was 74.1% at 3 months, 90.1% at 6 months and 96.3% at 12 months, respectively, after BS. In this group of patients, HDL cholesterol levels rose progressively (1.0 ± 0.2 to 1.5 ± 0.3 mmol/l, p < 0.001) and triglycerides decreased (2.5 ± 0.9 to 1.2 ± 0.5 mmol/l, p < 0.001) during follow-up. Regarding previous lipid-lowering therapy, fibrates and ezetimibe were withdrawn in all patients and statins in 69.4% 1 year after surgery.

Conclusion

BS has beneficial effects on lipid profile, achieving complete remission of AD at 1 year of follow-up in almost all patients.

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