Results 361 to 370 of about 2,441,241 (423)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi, Annarita Baldassarri, Roberta Villa, Federico Tanzi, Simona Salera, Vincenza Lombardo, Alessandro Draghi, Nicole Piazza O'Sed, Giovanni Casazza, Maurizio Vecchi, Mirella Fraquelli   +10 more
wiley   +1 more source

Percutaneous device closure of a perimembranous ventricular septal defect in a 2-month-old infant. [PDF]

AsiaIntervention
Munde K, Munde A, Paliwal M, Kolapkar H, Shetru AT.   +4 more
europepmc   +1 more source

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J. Lyon   +5 more
wiley   +1 more source

Court-mandated redistricting and disparities in infant mortality and deaths of despair. [PDF]

BMC Public Health
Schnake-Mahl A, Anfuso G, Bilal U, Goldstein ND, Purtle J, Hernandez SM, Eberth JM.   +6 more
europepmc   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

Effects of Infant Formula Supplemented With Prebiotics on the Gut Microbiome, Gut Environment, Growth Parameters, and Safety and Tolerance: A Systematic Review and Meta-Analysis. [PDF]

Nutr Rev
Kebbe M, Leung K, Perrett B, Reimer RA, Adamo K, Redman LM.   +5 more
europepmc   +1 more source

Nutritional safety and suitability of a specific protein hydrolysate derived from sources of skimmed cow's milk and whey protein concentrates and used in infant and follow-on formula manufactured from hydrolysed protein by Healthcare Reckitt B.V. [PDF]

EFSA J
EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA), Bohn T, Cámara M, Castenmiller J, de Henauw S, Hirsch-Ernst KI, Jos A, Maciuk A, Mangelsdorf I, McNulty B, Naska A, Pentieva K, Siani A, Thies F, Castle L, Fewtrell M, Przyrembel H, Titz A, Turck D.   +19 more
europepmc   +1 more source

Evaluating the reflux suppression properties of Gaviscon Infant powder with different milk formulations using an in vitro model of the infant stomach. [PDF]

Sci Rep
McLaughlin F, Fisher J, Atherton M, Coyle C.   +3 more
europepmc   +1 more source

Dynamics of gut resistome and mobilome in early life: a meta-analysis. [PDF]

EBioMedicine
Bargheet A, Noordzij HT, Ponsero AJ, Jian C, Korpela K, Valles-Colomer M, Debelius J, Kurilshikov A, Pettersen VK.   +8 more
europepmc   +1 more source