Guideline No. 452: Diagnosis and Management of Intrahepatic Cholestasis of Pregnancy.

Objective: To summarize the current evidence and to make recommendations for the diagnosis and management of intrahepatic cholestasis of pregnancy.

Target Population: Pregnant people with intrahepatic cholestasis of pregnancy.

Options: Diagnosing the condition using fasting or non-fasting bile acids, classifying disease severity, determining what treatment to offer, establishing how to monitor for antenatal fetal wellbeing, identifying when to perform elective birth.

[Directive clinique n 441 : Surveillance prénatale du bien-être fœtal].

Objectif: Résumer les données probantes actuelles et formuler des recommandations pour la surveillance prénatale du bien-être fœtal afin de détecter les facteurs de risque périnatal et toute potentielle décompensation fœtale et de permettre une intervention rapide en prévention de la morbidité et la mortalité périnatales.

Population Cible: Personnes enceintes avec ou sans facteurs maternels, fœtaux ou gravidiques associés à des risques périnataux et à la décompensation fœtale.

Options: Utiliser des examens prénataux par technologie de base et/ou avancée en fonction des facteurs de risque de décompensation fœtale.

[Mise à jour technique N° 436 : Classification des césariennes au Canada : Critères de Robson modifiés].

Objectif: Décrire et promouvoir l'utilisation d'un système de classification universel de la césarienne au Canada.

Population Cible: Les femmes enceintes devant subir une césarienne. BéNéFICES, RISQUES ET COûTS: L'utilisation d'un système de classification normalisé de la césarienne permet de comparer les taux de césariennes et tendances aux échelles locale, régionale, nationale et internationale.

Technical Update No. 436: Classification of Cesarean Deliveries in Canada: The Modified Robson Criteria.

Objective: To describe and advocate for the use of a common classification system for cesarean delivery in Canada.

Target Population: Pregnant individuals undergoing cesarean delivery.

Benefits, Harms, Costs: Use of a standardized classification system for cesarean delivery allows for local, regional, national, and international comparison of cesarean delivery rates and trends.

Myasthenia gravis in pregnancy: Systematic review and case series.

Background: Myasthenia gravis is an autoimmune disease which can impact pregnancy.

Methods: Six databases were systematically searched for studies with at least five subjects reporting pregnancy outcomes for women with myasthenia gravis in pregnancy. Assessment of bias was performed for all included studies.

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.

Glutamine synthetase (GS) is the enzyme responsible for the biosynthesis of glutamine, providing the only source of endogenous glutamine necessary for several critical metabolic and developmental pathways. GS deficiency, caused by pathogenic variants in the glutamate-ammonia ligase (GLUL) gene, is a rare autosomal recessive inborn error of metabolism characterized by systemic glutamine deficiency, persistent moderate hyperammonemia, and clinically devastating seizures and multi-organ failure shortly after birth. The four cases reported thus far were caused by homozygous GLUL missense variants.

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

SMARCA4 encodes a central ATPase subunit in the BRG1-/BRM-associated factors (BAF) or polybromo-associated BAF (PBAF) complex in humans, which is responsible in part for chromatin remodeling and transcriptional regulation. Variants in this and other genes encoding BAF/PBAF complexes have been implicated in Coffin-Siris Syndrome, a multiple congenital anomaly syndrome classically characterized by learning and developmental differences, coarse facial features, hypertrichosis, and underdevelopment of the fifth digits/nails of the hands and feet. Individuals with SMARCA4 variants have been previously reported and appear to display a variable phenotype.

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality. Over 320 genes have been implicated showing the genetic heterogeneity of the condition.

Comparison of cesarean versus vaginal delivery of extremely preterm gestations in breech presentation: retrospective cohort study.

As survival increases at earlier gestational ages, the optimal mode of delivery, especially in cases of breech presentation, is of increasing importance. The objective of this study was to compare outcomes of vaginal delivery (VD) and cesarean section (CS) births for infants in breech presentation at borderline viability. A retrospective chart review of live breech births between 23 + 0 and 25 + 6 weeks gestation at a tertiary university center from 2003 to 2013 was conducted.

Surgical Management Algorithm for Caesarean Scar Pregnancy.

Objectives: To report our experience with the management of Caesarean scar pregnancy (CSP) in the first trimester and to develop a unique treatment algorithm allowing physicians to customize their management based on clinical patient characteristics.

Methods: A retrospective review of 12 patients diagnosed with CSP between December 2012 and June 2016 was conducted in a tertiary care hospital in Toronto. All patients were diagnosed with CSP by transvaginal ultrasound using radiologic criteria.

Modulation of imprinted gene expression following superovulation.

Although assisted reproductive technologies increase the risk of low birth weight and genomic imprinting disorders, the precise underlying causes remain unclear. Using a mouse model, we previously showed that superovulation alters the expression of imprinted genes in the placenta at 9.5days (E9.

Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation.

Little is known about the conditions contributing to the stability of DNA methylation patterns in male germ cells. Altered folate pathway enzyme activity and methyl donor supply are two clinically significant factors that can affect the methylation of DNA. 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key folate pathway enzyme involved in providing methyl groups from dietary folate for DNA methylation.

Critical period of nonpromoter DNA methylation acquisition during prenatal male germ cell development.

The prenatal period of germ cell development is a key time of epigenetic programming in the male, a window of development that has been shown to be influenced by maternal factors such as dietary methyl donor supply. DNA methylation occurring outside of promoter regions differs significantly between sperm and somatic tissues and has recently been linked with the regulation of gene expression during development as well as successful germline development. We examined DNA methylation at nonpromoter, intergenic sequences in purified prenatal and postnatal germ cells isolated from wildtype mice and mice deficient in the DNA methyltransferase cofactor DNMT3L.

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Methionine dependence, the inability of cells to grow when the amino acid methionine is replaced in culture medium by its metabolic precursor homocysteine, is characteristic of many cancer cell lines and some tumors in situ. Most cell lines proliferate normally under these conditions. The methionine dependent tumorigenic human melanoma cell line MeWo-LC1 was derived from the methionine independent non-tumorigenic line, MeWo.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Cobalamin nonresponsive methylmalonic acidemia (MMA, mut complementation class) results from mutations in the nuclear gene MUT, which codes for the mitochondrial enzyme methylmalonyl CoA mutase (MCM). To better elucidate the spectrum of mutations that cause MMA, the MUT gene was sequenced in 160 patients with mut MMA. Sequence analysis identified mutations in 96% of disease alleles.