Plasma Metabolomic and Lipidomic Profiling of Metabolic Dysfunction-Associated Fatty Liver Disease in Humans Using an Untargeted Multiplatform Approach.

Metabolic dysfunction-associated fatty liver disease (MAFLD) is a complex disorder that is implicated in dysregulations in multiple biological pathways, orchestrated by interactions between genetic predisposition, metabolic syndromes and environmental factors. The limited knowledge of its pathogenesis is one of the bottlenecks in the development of prognostic and therapeutic options for MAFLD. Moreover, the extent to which metabolic pathways are altered due to ongoing hepatic steatosis, inflammation and fibrosis and subsequent liver damage remains unclear.

Correction to: Ileocolic intussusception due to a cecal endometriosis: Case report and review of literature.

After publication of this work [1], the authors noticed that the first names and last names of all the authors were inverted. In the original manuscript, they appear on PubMed as.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610-kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1.

Should fetal scalp blood sampling be performed in the case of meconium-stained amniotic fluid?

Objective: To investigate the effect of using fetal scalp blood sampling on the risk of neonatal respiratory distress syndrome (NRDS) with meconium-stained amniotic fluid (MSAF).

Methods: Prospective data collection with regard to MSAF during labor for low-risk term cephalic singleton live birth from 2012 to 2014. Maternal, obstetric and neonatal data were compared according to the occurrence of respiratory distress syndrome (RDS group) or not (no RDS group).

Stress Experienced by Obstetrics and Gynecology Residents during Planned Laparoscopy: A Prospective, Multicentric, Observational, Blinded, and Comparative Study.

Aims: To describe heart rate (HR) variations in surgical residents during laparoscopy and to assess their intraoperative stress.

Methods: We performed a prospective, multicentric, observational, blinded, and comparative analysis of the HR in 75 obstetrics and gynecology residents during planned laparoscopy for infertility in five teaching hospitals with assisted reproductive technology centers. The surgical residents had neither heart disease nor were under medical treatment or using tobacco or drugs.

Malignant transformation of abdominal wall endometriosis: case report and literature review.

In recent years we have seen an increase in the frequency of cesarean sections. We present a case report of an endometrioid adenocarcinoma arising from abdominal wall endometriosis in a patient with a history of cesarean sections and describe its diagnostic and therapeutic management.

Surgical management of endometriosis.

Endometriosis is a complex disease of young women in reproductive age. It's responsible for dysmenorrhea, dyspareunia, chronic pelvic pain and infertility. Medical and surgical treatments have different aims.

Hepatic endometrioma: a case report and review of the literature: report of a case.

Hepatic endometriosis has an extremely rare occurrence characterized by the presence of ectopic endometrium in the liver. A diagnosis of hepatic endometriosis is established after surgery. A 51-year-old multiparous female was referred to our unit for investigation of a liver tumor.

Ileocolic intussusception due to a cecal endometriosis: case report and review of literature.

Unlabelled: Cecal endometriosis and ileocolic intussusception due to a cecal endometriosis is extremely rare. We report a case of a woman who presented an ileocecal intussusception due to a cecal endometriosis. The patient gave two months history of chronic periombilical pain requiring regular hospital admission and analgesia.

Safety of transient abdominal ovariopexy in patients with severe endometriosis.

Objective: To evaluate complications of transient ovariopexy performed to reduce adhesions in patients with severe endometriosis.

Methods: A bicentric retrospective study involved 193 consecutive patients who underwent laparoscopic surgery for severe endometriosis at 2 French university hospitals from 1997 to 2009. At the end of surgery, unilateral or bilateral transient ovariopexy was performed on 297 ovaries.

Infertility and chylous ascites? A case report.

Introduction: Chylous ascites is defined by an accumulation of chylous fluid in the peritoneal cavity and it clinically appears as a milky fluid in which laboratory examination reveals triglycerides, cholesterol, and sometimes chylomicrons and lymphocytes.

Presentation Of Case: We report the first case of primary chylous ascites observed during laparoscopy for unexplained secondary infertility.

Discussion: Chylous ascites has never been linked to fertility but bathes all internal reproductive organs surfaces and is considered a communication mean between ovaries.

Carbon-monoxide poisoning in young drug addicts due to indoor use of a gasoline-powered generator.

We report six fatal cases of unintentional carbon-monoxide poisoning which occurred in a house occupied by young people. The source of carbon monoxide was a gasoline-powered generator. For all victims, an external body examination was carried out and blood and urine samples collected.

Laparoscopic resection of low rectal cancer with a mean follow-up of seven years.

The role of laparoscopic surgery in the management of cancer of the rectum remains controversial. The main concern is the risk of port-site metastasis and neoplastic dissemination. The aim of this study was to evaluate prospectively 29 patients who underwent laparoscopic resection with total mesorectum excision for lower rectal carcinoma with a mean follow-up of 7 years.

Prognostic value of epicardial coronary artery constriction to the cold pressor test in type 2 diabetic patients with angiographically normal coronary arteries and no other major coronary risk factors.

Objective: Endothelium-dependent coronary dilation is impaired in diabetic patients and has been found to independently predict cardiovascular events (CVEs) in patients with multiple coronary risk factors. The aim of this study was to evaluate the outcome of type 2 diabetic patients on the basis of epicardial coronary dysfunction.

Research Design And Methods: We examined 56 control subjects (aged 51.

Basic knowledge of Internet in forensic medicine: logging on, fetching files and information.

The Internet stands at the forefront of telecommunications in medicine, including forensic medicine, since information technology (IT) has been able to revolutionize medical and scientific practices. Today, forensic physicians and professionals need to be familiar with the use of computers and the key applications of information technology: multimedia and the Internet. From the office, the forensic physician can communicate with other physicians by means of e-mail, take part in discussion groups, obtain information on meetings and get information from public libraries and various databases by means of file transfer protocol.

Sexual assault under benzodiazepine submission in a Paris suburb.

Sexual assaults under benzodiazepine submission have been described, since use of benzodiazepine enables non consensual sexual activity but rarely fully reported. An accurate evaluation of the phenomenon has seemed interesting. Files of 23 adult males and females examined at the Emergency Forensic Unit of an University Teaching Hospital near Paris were reviewed.