Results 101 to 110 of about 216,322 (317)
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Cross-cultural perspectives on parent-infant interactions
, 2018 Each day more than three-quarters of a million adults around the world experience the joys and heartaches just as they do the rewards and fears of becoming parents to a newborn infant.
Bornstein, Marc H., Esposito, Gianluca
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Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Infant Mortality in the United States: Provisional Data From the 2023 Period Linked Birth/Infant Death File [PDF]
This report presents provisional 2023 data on infant mortality rates using the U.S. linked birth/infant death files. Infant mortality rates are shown by infant age at death, maternal race and Hispanic origin, maternal age, gestational age, sex of the ...
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
INVESTIGATING FACTORS AFFECTING INFANT CRY AND SLEEP ROUTINES FROM BIRTH TO TWELVE MONTHS [PDF]
, 2013 The studies in this thesis explore both the individual differences and developmental trajectories in infant routines and bridge the disciplines of paediatric and developmental psychology.
KALEY, FIONA,MARIA
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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 +9 more
wiley +1 more source
The ‘Got Milk’ project. The timing of lactogenesis phase II: the impact of mother-infant proximity [PDF]
, 2009 This study explores the effects of mother-infant close-contact while on the postnatal ward on the maternal perception of the onset of lactogenesis phase II (LII).The 'Got Milk?' project utilized a sub-sample of 49 mothers of newly delivered infants ...
Robinson, Lyn
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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 +17 more
wiley +1 more source
Parent infant sleep synchrony: A test of two infant sleep locations [PDF]
, 2006 This study contributes to the growing understanding of social sleep environments and their relationship to parent and infant behaviour and physiology by exploring the ways proximity and/or regularity of bed-sharing practice affect the physiology of ...
Leech, Stephen
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