Results 351 to 360 of about 799,457 (416)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Sex-specific association of immunological markers in CS-delivered newborns with pre-pregnancy body mass index and gestational weight gain of mothers. [PDF]

Sci Rep
Rak K, Godyla-Jabłoński M, Bronkowska M.   +2 more
europepmc   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown, Allison D'Aguilar, Quinn Hurshman, Rebekah NailorZee, Timothy P. York, George Capone, Ananda B. Amstadter, Colleen Jackson‐Cook   +7 more
wiley   +1 more source

Postdischarge health information tools and information needs for mothers of vulnerable newborns in low- and middle-income countries: a scoping review. [PDF]

BMJ Open
Rababeh A, Paton C, Grewal G, Maina JM, English M, Oluoch D, Fuller SS, Papoutsi C.   +7 more
europepmc   +1 more source

An epidemiological investigation of oral and maxillofacial anomalies in newborns and their relation to parental health in the Ha'il Region, Saudi Arabia. [PDF]

Sci Rep
Alshammari AF, Alhomayan NA, Alshmari RB, Alharbi SF, Alhejaili MA, Alenezi YE, Madfa AA, Aledaili EA, Alshammary FL, Alkurdi KA.   +9 more
europepmc   +1 more source

Delivery room dextrose gel for preterm hypoglycaemia (the GEHPPI study): a randomised placebo-controlled trial. [PDF]

Arch Dis Child Fetal Neonatal Ed
King G, Sloan J, Duddy P, O'Sullivan A, Ó Catháin N, Miletin J, Dempsey S, Moore S, Purna JR, McDermott C, Moran M, James J, Letshwiti JB, Tabery K, Kubátová A, Janota J, Kelleher J.   +16 more
europepmc   +1 more source

Book Reviews of Two Reviews of Selective Nontreatment of Handicapped Newborns by Robert F. Weir -- Fundamentals of Ethics by John Finnis -- The Way of the Lord Jesus, Volume One: Christian Moral Principles by Germain Grisez [PDF]

, 1984
Catholic Physicians\u27 Guild
core   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Construction and Application of an Information Closed-Loop Management System for Maternal and Neonatal Access and Exit Rooms: Non Randomized Controlled Trial.

JMIR Med Inform
Jia S, Zhu N, Liu J, Cheng N, Jiang L, Yang J.   +5 more
europepmc   +1 more source

An analysis of real-life data of infants born to mothers with autoimmune thyroiditis: do they need to be followed-up? [PDF]

Ital J Pediatr
Righi B, Melli N, Cassio A, Canovi A, Leo F, Sartori C, Polese A, Colla R, De Fanti A, Gargano G, Street ME.   +10 more
europepmc   +1 more source