The effects of metabolic status on non‐alcoholic fatty liver disease‐related outcomes, beyond the presence of obesity

Alimentary Pharmacology &Therapeutics, EarlyView.


https://ift.tt/2ywlSuT

Reversal of acute liver failure due to Wilson's disease by a regimen of high‐volume plasma exchange and penicillamine

Hepatology, Volume 0, Issue ja, -Not available-.


https://ift.tt/2PQa8Kl

Cancers, Vol. 10, Pages 397: DNA Methylation Predicts the Response of Triple-Negative Breast Cancers to All-Trans Retinoic Acid

Cancers, Vol. 10, Pages 397: DNA Methylation Predicts the Response of Triple-Negative Breast Cancers to All-Trans Retinoic Acid

Cancers doi: 10.3390/cancers10110397

Authors: Krysta Mila Coyle Cheryl A. Dean Margaret Lois Thomas Dejan Vidovic Carman A. Giacomantonio Lucy Helyer Paola Marcato

All-trans retinoic acid (atRA) regulates gene expression and is used to treat acute promyelocytic leukemia. Attempts to use atRA in breast cancer without a stratification strategy have resulted in limited overall effectiveness. To identify biomarkers for the treatment of triple-negative breast cancer (TNBC) with atRA, we characterized the effects of atRA on the tumor growth of 13 TNBC cell lines. This resulted in a range of effects that was not predictable based on previously hypothesized predictors of response, such as the levels of atRA nuclear shuttling proteins fatty acid binding protein 5 (FABP5) and cellular retinoic acid binding protein 2 (CRABP2). Transcriptional profiling revealed that atRA induced distinct gene expression changes in the sensitive versus resistant cell lines that were mostly independent of the presence of retinoic acid response elements (RAREs) or peroxisome proliferator response elements (PPREs). Given the importance of DNA methylation in regulating gene expression, we hypothesized that differential DNA methylation could predict the response of TNBCs to atRA. We identified over 1400 sites that were differentially methylated between atRA resistant and sensitive cell lines. These CpG sites predicted the response of four TNBC patient-derived xenografts to atRA, and we utilized these xenografts to refine the profile and identified that as many as 17% of TNBC patients could benefit from atRA treatment. These data illustrate that differential methylation of specific CpGs may be useful biomarkers for predicting the response of patient tumors to atRA treatment.

https://ift.tt/2JhDZZW

Global DNA methylation reflects spatial heterogeneity and molecular evolution of lung adenocarcinomas

International Journal of Cancer, Volume 0, Issue ja, -Not available-.


https://ift.tt/2AprvfT

Risk factors for preterm delivery among early onset cancer survivors: A Finnish register‐based study

International Journal of Cancer, Volume 0, Issue ja, -Not available-.


https://ift.tt/2CE1vPB

APRT deficiency: the need for early diagnosis

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.

https://ift.tt/2EIgmep

Congenital hypoplasia of depressor anguli oris muscle (CHDAOM): an uncommon cause of asymmetric crying facies in childhood

Description 

A 2-year-old developmentally normal girl presented to us with a history of deviation of angle of mouth to right only during crying, persisting from neonatal period. She was born at term by normal vaginal delivery to a primigravida mother with a birth weight of 2.2 kg and smooth perinatal transition. Parents noticed asymmetry of face from neonatal period visible only during crying, which disappeared when she was consoled, without any drooling, regurgitation of feeds or poor sucking. There is no history suggestive of any other neurological or systemic abnormality in index case or in family.

Local examination revealed thinning of lower lip near left angle of mouth on palpation. There was no facial asymmetry while the child was calm (figure 1A), however, on crying there was deviation of the angle of mouth downwards and towards right side (figure 1B). There was no evidence of hypoplasia...

https://ift.tt/2OMfHgk