Results 201 to 210 of about 506,036 (266)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Exploring Emotional Well-Being and Support of Midwives Who Provide Termination of Pregnancy Care: An International Survey. [PDF]

J Adv Nurs
Armour S, Keedle H, Gilkison A, Dahlen HG.   +3 more
europepmc   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

It takes a village: A pilot cross-randomized trial to enhance pregnancy care and support in northern Ghana. [PDF]

J Glob Health
Jakubowski A, Aborigo RA, Kuwolamo I, Meredith JD, Abuosi AA.   +4 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

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, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

PREgnancy Care Integrating translational Science, Everywhere (PRECISE): a prospective cohort study of African pregnant and non-pregnant women to investigate placental disorders - cohort profile. [PDF]

BMJ Open
Craik R, Akuze J, Volvert ML, Blencowe H, Mukhanya M, Makanga PT, Tchavana C, Moore SE, Vala A, Koech A, Tribe RM, Noble A, Bah B, D'Alessandro U, Vidler M, Tu D, Maculuve S, Wanje O, Idris Y, Mwashigadi G, Ochieng M, Filippi V, Roca A, Magee LA, Poston L, Mistry HD, Bah Y, Li J, Temmerman M, Sevene E, Jah H, Mwadime E, Barratt B, Papageorghiou AT, Makacha L, Quimice L, Touray F, Salisbury T, Kongira F, von Dadelszen P, PRECISE Network.   +40 more
europepmc   +1 more source

Pregnancy Care for the 1980s [PDF]

, 1984
openaire   +1 more source

A Spanish-Language Patient-Reported Outcome Measure for Trust in Pregnancy Care Clinician.

JAMA Netw Open
Molina RL, Bazan M, Hacker MR, Kaimal AJ, Alegría M, Fernández L, Guise JM, Edelen MO.   +7 more
europepmc   +1 more source

'I am a father but not pregnant': a qualitative analysis of the perspectives of pregnant couples on male partner role during pregnancy care in Bamenda, Cameroon. [PDF]

Reprod Health
Foglabenchi LH, Stöckl H, Marchant T.
europepmc   +1 more source