Results 111 to 120 of about 130,508 (306)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Women's Health ReportsBackground: Although the postpartum period is an opportunity to promote long-term well-being and health systems usage, system complexities limit patients’ abilities to optimize their longitudinal health.
Hannah M. Green +12 more
doaj +1 more source
Exploring the experience of care for postpartum depression: a socioecological, qualitative analysis
, 2017 The birth of a child is considered by many to be among the happiest times in a woman’s life. For many women, however, this experience may be marked by feelings of helplessness, irritability, and being overwhelmed.
Mahalik, Anne F
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Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
, 2009 Includes bibliographical references (leaves 64-68).In South Africa obstetric haemorrhage is the third most common cause of maternal deaths. In addition to maternal mortality audits, quality of care audits using criterion based audit methodology provides ...
Adams, Tracey
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Optimizing Postpartum Care in Arizona
, 2023 The US is currently undergoing a maternal morbidity and mortality crisis. Women die from pregnancy-related causes, and many experience severe maternal morbidities (SMM).
Okechukwu, Abidemi Olubukunmi
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Effect of a patient‐centered planning intervention on postpartum visit attendance
PregnancyIntroduction Pregnant individuals with cardiometabolic conditions—including diabetes, hypertensive disorders, and obesity—are at elevated risk for postpartum complications.
Sheree L. Boulet +12 more
doaj +1 more source