Results 181 to 190 of about 759,603 (318)

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

Maternal-neonatal vitamin D gradient at birth in Ilorin, Nigeria: a comparative cross-sectional study. [PDF]

Matern Health Neonatol Perinatol
Ayodeji O, Ayodele O, Omotayo A, Ariyibi S, Sikiru B, Popoola G, Ayobola A, Osonuga A, Adebayo UO, Oso TA, Ayelaagbe OB, Agboola AA, Lucero-Prisno Iii DE.   +12 more
europepmc   +1 more source

ANAESTHESIA AND THE NEONATE

British Journal of Anaesthesia, 1960
openaire   +2 more sources

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

Aligning neonatal sepsis triage diagnostics with WHO target product profiles in low- and middle-income countries. [PDF]

BMJ Glob Health
Gleeson B, Blumel B, Ibarz Pavon AB, Kirby RP, Hansen C, Erkosar B, Spotswood NE, Nisar YB, Palamountain KM.   +8 more
europepmc   +1 more source

Factors Associated with Adverse Neonatal Outcomes in Complete Rupture of the Pregnant Uterus: A Single-Center Cohort Study. [PDF]

J Pers Med
Gil B, Shim S, Jang Y, Shin JS, Lee N, Kim MK, Jung YW, Seong SJ, Kim ML.   +8 more
europepmc   +1 more source

NEONATAL ANAESTHESIA

British Medical Bulletin, 1957
openaire   +3 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Antihypertensive Drugs and Dental Caries Risk: A Drug–Target Mendelian Randomization Analysis

International Journal of Genomics
Wenbin Shi, Shuhua Liu, Xiuxia Wu, Wangsong Cheng, Xiqun Jia, Ziyang Hu   +5 more
doaj   +1 more source