Results 211 to 220 of about 8,860,936 (359)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Nutrition and Infant Health in Japan [PDF]

The model presented in this paper emphasizes the importance of the mother's nutritional intake as a determinant of infant health. Using cross-sectional market averages for 1980 and 1981 in Japan, we find that the nutrient intake of the mother during ...
Tetsuji Yamada, Tadashi Yamada, Frank Chaloupka   +2 more
core  

Cost-effectiveness of maternal and neonatal health interventions in Ethiopia: a systematic review and meta-analysis. [PDF]

Health Econ Rev
Sima AD, Burayu ET, Zegeye ZB.
europepmc   +1 more source

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

Effects of remote breastfeeding guidance on breastfeeding rates and neonatal health: a systematic review and meta-analysis. [PDF]

Front Public Health
Hu M, Sang S, Pei H, Han X, Wei Q, Wei L, Qi J, Li J.   +7 more
europepmc   +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

The Effect of Maternal Pertussis Vaccination on Neonatal Health Outcomes in the Dutch Pregnancy Drug Register. [PDF]

Birth Defects Res
Woestenberg PJ, Maas VYF, de Feijter M, van Balveren L, Conijn M, Boetzkes S, Passier AJLM, Kant AC.   +7 more
europepmc   +1 more source

Maternal Stressor Agents with Premature Infants in Neonatal Intensive Care Units [PDF]

Introduction: Birth of a premature infant is associated with separation from family and hospitalizationActually, parents would undergo a lot of stress. The present study aimed to determine stressor agents of the mothers with premature infants admitted ...
مهرنوش, نسرین, سیدفاطمی, نعیمه, حقانی, حمید, بریم نژاد, لیلی   +3 more
core  

Gestational Diabetes Mellitus and Adverse Maternal and Neonatal Health Outcomes: an Umbrella review of Meta-Analyses. [PDF]

Obes Rev
Kang J, Kim HJ, Jo Y, Smith KJ, Lark ARS, Mir FA, Park J, Lee H, Kim Y, Rahmati M, Smith L, Rhee SY, Son Y, Yon DK, Nehs CJ.   +14 more
europepmc   +1 more source

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