Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Perinatal Care Provider Perspectives on Integrating Clinical Research Into the Clinical Infrastructure.

Introduction: This study explored perinatal health care providers' perspectives on the recruitment of pregnant participants and integrating clinical research into their practice, with a particular emphasis on the complexities introduced by the COVID-19 pandemic.

Methods: From May to September 2021, semistructured interviews were conducted with 10 perinatal health care providers from an urban US health center. The interview transcripts were analyzed using Braun and Clarke's thematic analysis framework, a rigorous method for analyzing qualitative data by identifying, coding, and reporting themes.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

Midwives' and Obstetric Physicians' Practices Related to Pregnancy Nutrition Counseling: A Scoping Review.

Introduction: Dietary intake during pregnancy impacts short- and long-term maternal and fetal health outcomes. Dietary habits are highly individualized and influenced by contextual factors and social determinants of health within each person's lived environment. Midwives and other health care providers are well positioned to facilitate nutrition conversations and interventions with patients related to recommendations and modifications before and during pregnancy.

Expanded-access use of elamipretide in a patient with membrane protein-associated neurodegeneration.

This case report presents a progressively declining 17-year-old patient with membrane protein-associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective improvements in her 6-minute walk test and 5 times sit-to-stand test during elamipretide treatment.

Food Choice and Dietary Perspectives of Young, Urban, Black Pregnant Women: A Focus Group Study.

Black pregnant women in Chicago are disproportionately affected by maternal morbidity and mortality and are more likely to reside in neighborhoods that experience greater economic hardships and food apartheid than any other race/ethnicity. Addressing social determinants of health such as structural inequities, economic environment, and food apartheid issues may provide insights into eliminating Black maternal morbidity and mortality disparities. This study explores food choice determinants and dietary perspectives of young, urban, Black pregnant women.

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.

Objective: This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of age.

Methods: A phase IIb multicenter randomized double-blind placebo-controlled trial was conducted of vigabatrin at first epileptiform electroencephalogram (EEG) versus vigabatrin at seizure onset in infants with TSC. Primary outcome was Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) cognitive assessment score at 24 months.

Mediterranean Diet Adherence and Depressive Symptoms among a Nationally Representative Sample of Pregnant Women in the United States.

Background: Prenatal depression affects ∼12% of pregnant women in the United States and is associated with an increased risk of adverse birth outcomes and maternal mortality. Adherence to a healthy dietary pattern may reduce and/or protect against depressive symptoms.

Objectives: To investigate the relationship between adherence to a Mediterranean diet and depressive symptoms among pregnant women in the United States.

Correction: OjiNjideka Hemphill et al. Feasibility Study of Probiotic Supplementation in an Urban Academic Facility among Diverse Pregnant Individuals. 2023, , 875.

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Structural Violence and Stress Experiences of Young Pregnant Black People.

Introduction: Approximately 10-20% of individuals suffer from mental health concerns during the prenatal period due to their vulnerability and emotional responses to stressful events. Mental health disorders are more likely to be disabling and persistent for people of color, and they are less likely to seek treatment due to stigma. Young pregnant Black people report experiencing stress due to isolation, feelings of conflict, lack of material and emotional resources, and support from significant others.

Establishing a pediatric acute stroke protocol: experience of a new pediatric stroke program and predictors of acute stroke.

Introduction: Pediatric stroke is among the top 10 causes of death in pediatrics. Rapid recognition and treatment can improve outcomes in select patients, as evidenced by recent retrospective studies in pediatric thrombectomy. We established a collaborative protocol involving the vascular neurology and pediatric neurology division in our institution to rapidly diagnose and treat pediatric suspected stroke.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

Background And Objectives: Primary mitochondrial myopathies (PMMs) encompass a group of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely affecting physical function, exercise capacity, and quality of life (QoL). Current PMM standards of care address symptoms, with limited clinical impact, constituting a significant therapeutic unmet need. We present data from MMPOWER-3, a pivotal, phase-3, randomized, double-blind, placebo-controlled clinical trial that evaluated the efficacy and safety of elamipretide in participants with genetically confirmed PMM.

Associations between plant-based diets, plant foods and botanical supplements with gestational diabetes mellitus: a systematic review protocol.

Introduction: Gestational diabetes mellitus (GDM) is one of the most common health complications during pregnancy. Medical nutrition therapy is the mainstay of treatment for GDM, however, there is no current consensus on optimal dietary approaches to prevent or control hyperglycaemia in pregnancy. The aim of this systematic review is to assess the relationships between plant-based dietary patterns, plant foods and botanical dietary supplements with GDM and maternal glycaemic biomarkers.

Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890].

[This corrects the article DOI: 10.1016/j.ymgmr.

Feasibility Study of Probiotic Supplementation in an Urban Academic Facility among Diverse Pregnant Individuals.

(1) Background: Despite iron intake recommendations, over a quarter of pregnant individuals have iron deficiency. (®) enhances iron absorption in non-pregnant populations and may have positive effects in pregnancy among those with sufficient iron stores; however, no studies have evaluated the effect of ® on maternal and neonatal iron status among individuals at risk for iron deficiency anemia in pregnancy. Thus, this study aims to assess the feasibility and preliminary efficacy of daily oral ® maternal supplementation among diverse pregnant individuals.

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.

Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA-approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting in improved membrane stability, cellular respiration, and ATP production. In clinical trials, elamipretide produced clinical and functional improvements in adults and adolescents with mitochondrial disorders, such as primary mitochondrial myopathy and Barth syndrome; however, experience in younger patients is limited and to our knowledge, these are the first case reports on the safety and efficacy of elamipretide treatment in children under 12 years of age.

Obstetric experiences of young black mothers: An intersectional perspective.

Background: In Chicago, maternal morbidity and mortality is six times more likely among Black birthing people than white, despite policy initiatives to promote maternal health equity. Disparities in maternal morbidity and mortality reflect experiences of structural inequities - including limited quality obstetric care, implicit bias, and racism resulting patient mistrust in the health care system, inadequate social support, and financial insecurity. Although there is published literature on Black women's experiences with obstetric care, including experiences with individual and structural racism, little is known about the intersection of age and race and experiences with health care.

Efficacy of behavioral interventions to improve maternal mental health and breastfeeding outcomes: a systematic review.

Background: Despite extensive benefits and high intentions, few mothers breastfeed exclusively for the recommended duration. Maternal mental health is an important underlying factor associated with barriers and reduced rates of breastfeeding intent, initiation, and continuation. Given evidence of a bidirectional association between maternal mental health and breastfeeding, it is important to consider both factors when examining the efficacy of interventions to improve these outcomes.

Recruitment and Retention of Urban Pregnant Women to a Clinical Study Administering an Oral Isotope Dietary Tracer.

Introduction: Pregnant women are a vulnerable population that are difficult to engage in clinical research. We report successful recruitment and retention strategies used in a longitudinal pilot study of urban racially/ethnically diverse pregnant women that involved administration of an orally ingested isotope tracer, multiple venipunctures, biopsy of placenta after delivery, and cord or placental blood collection.

Materials And Methods: We used direct strategies to recruit English-speaking obese and nonobese pregnant women aged 17-45 years, who were in the third trimester of pregnancy.

A new pathogenic POLG variant.

gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene.