Nonsevere hypertensive disorders of pregnancy and oral antihypertensive medications: an argument against use.

Hypertensive disorders of pregnancy, including gestational hypertension and preeclampsia, affect approximately 13% of all pregnancies and are a major cause of maternal and neonatal morbidity and mortality worldwide. Although the treatment of preeclampsia with severe features has been well established on the basis of randomized controlled data, international society guidelines vary on the treatment of gestational hypertension and preeclampsia without severe features. The American College of Obstetricians and Gynecologists recommends against the use of antihypertensive agents for nonsevere hypertension (blood pressure of <160/110 mm Hg) in both gestational hypertension and preeclampsia without severe features given a lack of level 1 evidence in support of treatment and the theoretical risk of masking of disease progression or causing adverse fetal effects, such as growth restriction.

Posttraumatic Stress Symptoms among Obstetricians with Personal Experience of Birth Trauma.

Objective:  Psychological birth trauma (BT), defined as an event that occurs during labor and delivery involving actual or threatened harm or death to the pregnant person and/or their baby, has been reported in up to one-third of births. Obstetrician-Gynecologists (OBGYNs) who personally experience BT are at a unique risk of re-traumatization upon return to work. We aimed to investigate the prevalence of personal BT among obstetricians and their perceptions of how personal BT impacts their experience of caring for obstetric patients.

Navigation of Prenatal Care With Sex Discordance Between Cell-free DNA and Ultrasound Findings.

The utilization of cell-free DNA (cfDNA) screening has expanded rapidly across the age spectrum of pregnant persons. With cfDNA's widespread adoption, genetic fetal sex is now often known before a phenotypic assessment on anatomic survey. CfDNA detects sex discordance in 1/1500 to 2000 pregnancies.

A pilot randomized control trial of topical capsaicin as adjunctive therapy for nausea and vomiting of pregnancy.

Background: Nausea and vomiting is one of the most common complications of pregnancy, affecting 50% to 80% of pregnant persons. Moreover, despite its prevalence, it remains a challenging condition to treat. Treatment often involves oral and intravenous medications with potential side effects, particularly when taken in combination.

Lactation Consultation by an International Board Certified Lactation Consultant Improves Breastfeeding Rates for Mothers With Gestational Diabetes Mellitus.

Background: In patients with gestational diabetes, breastfeeding decreases the lifetime risk of Type 2 diabetes by half. Lactation consultation has been shown to increase breastfeeding rates in the general population but has not been assessed in a gestational diabetes population.

Research Aims: To determine if (1) a postpartum International Board Certified Lactation Consultant (IBCLC) consultation during delivery hospitalization improved inclusive (any) or exclusive breastfeeding rates at hospital discharge and 3 months postpartum in participants with GDM; and if (2) obstetrical providers' acknowledgement of maternal feeding preference affected the rates of IBCLC consultation for patients.

Breastfeeding Success Among Women with Gestational Diabetes Managed by Diet Only Compared with Those Requiring Medications.

Breastfeeding is known to have a positive impact on maternal and neonatal health. Some have suggested that gestational diabetes mellitus (GDM) is associated with lower breastfeeding rates, but it is not known whether rates are further impacted by glucose control in pregnancy. Thus, we examined whether patients with GDM requiring medication (A2 GDM) were more likely to not initiate or discontinue breastfeeding compared with patients with GDM well controlled by diet (A1 GDM).

Effect of Novel Breastfeeding Smartphone Applications on Breastfeeding Rates.

Low-income women are less likely to breastfeed than high-income women. Technology-based interventions demonstrate promise in decreasing health disparities. We assessed whether increased use of breastfeeding smartphone applications (apps) impacts breastfeeding rates for low-income women.

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly inherited diseases - where treatment may require reduction in the expression of a toxic mutant protein resulting from a gain-of-function allele - is unclear. Here we show the efficacy of allele-specific RNAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by dominant mutations in glycyl-tRNA synthetase (GARS).

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven related children homozygous for a novel mutation in tyrosyl-tRNA synthetase (YARS, c.

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in phenotypically diverse dominant and recessive human diseases. The charging of tRNA with phenylalanine is performed by a tetrameric enzyme that contains two alpha (FARSA) and two beta (FARSB) subunits.

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

Histidyl-tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcot-Marie-Tooth disease type 2W (CMT2W); however, the precise molecular mechanism remains undefined. Here, we investigated three HARS missense mutations associated with CMT2W (p.

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for charging tRNA with cognate amino acids-the first step in protein synthesis. ARSs are required for protein translation in the cytoplasm and mitochondria of all cells. Surprisingly, mutations in 28 of the 37 nuclear-encoded human ARS genes have been linked to a variety of recessive and dominant tissue-specific disorders.

A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Mutations in FGD1 cause Aarskog-Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 mutation in a family with atypical features of AAS, specifically bilateral upper and lower limb congenital joint contractures and cardiac abnormalities. The male proband and his affected maternal uncle are hemizygous for the novel FGD1 mutation p.

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.

Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of peripheral neuropathies. Mutations in several aminoacyl-tRNA synthetase (ARS) genes have been implicated in inherited CMT disease. There are 12 reported CMT-causing mutations dispersed throughout the primary sequence of the human glycyl-tRNA synthetase (GARS).

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far. By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with recessive mutations in SLC25A46.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) was identified in a single patient with a late-onset, sensory-predominant peripheral neuropathy; however, the genetic evidence was lacking, making the significance of the finding unclear.

A novel AARS mutation in a family with dominant myeloneuropathy.

Objective: To determine the genetic cause of neurodegeneration in a family with myeloneuropathy.

Methods: We studied 5 siblings in a family with a mild, dominantly inherited neuropathy by clinical examination and electrophysiology. One patient had a sural nerve biopsy.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-heritable disorders that result in white matter abnormalities in the central nervous system. Here we report three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination on MRI. Analysis by whole exome sequencing identified mutations in the nuclear-encoded alanyl-tRNA synthetase (AARS) in these two unrelated families: the two affected siblings are compound heterozygous for p.

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities. Mutations in the glycyl-tRNA synthetase (GARS) gene cause CMT2D. GARS is a member of the ubiquitously expressed aminoacyl-tRNA synthetase (ARS) family and is responsible for charging tRNA with glycine.