Results 101 to 110 of about 500,299 (305)
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
Salud Pública de México, 2002 Objetivo. Determinar el riesgo de mortalidad neonatal por edad gestacional y el peso al nacer. Material y métodos. Se estudió una cohorte de 19 668 neonatos que egresaron entre el 1 de enero de 1995 y el 31 de octubre de 1999 del Centro Médico Nacional ...
Lorenzo Osorno-Covarrubias +2 more
doaj
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
core
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
Avances en Enfermería, 2008 El presente artículo es resultado del trabajo de grado para optar al título como Enfermera Especialista en Enfermería Materno Perinatal, el cual tuvo como propósito realizar una propuesta de cuidado de enfermería al recién nacido desde lo cultural, con ...
NORMA YANETH NOGUERA ORTIZ +1 more
doaj
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
core
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
core
Maintaining the heat on neonatal hypothermia in developing countries
, 2014 Our world is shrinking due to computerized linkages and the mobility of society. Information is shared rapidly around the world. Issues surrounding newborn and infant nursing are global.
Psaila, Kim (S29734) +2 more
core +1 more source
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 +11 more
wiley +1 more source