Results 91 to 100 of about 193,103 (310)

Promotion of faster weight gain in infants born small for gestational age - Is there an adverse effect on later blood pressure?

open access: yes, 2007
Background - Being born small for gestational age is associated with later risk factors for cardiovascular disease, such as high blood pressure. Promotion of postnatal growth has been proposed to ameliorate these effects. There is evidence in animals and
Stephenson, T   +13 more
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Birth weight classification in gestational diabetes: is there an ideal chart?

open access: yesClinical and Biomedical Research, 2017
Introduction: Gestational diabetes mellitus (GDM) is associated to increased rates of large for gestational age newborns and macrosomia. Several charts are used to classify birth weight.
Livia Silveira Mastella   +6 more
doaj   +2 more sources

Etiological Subgroups of Small-for-Gestational-Age: Differential Neurodevelopmental Outcomes.

open access: yes, 2016
It remains unclear why substantial variations in neurodevelopmental outcomes exist within small-for-gestational-age (SGA) children. We prospectively compared 5-y neurodevelopmental outcomes across SGA etiological subgroups.Children born SGA (N = 1050 ...
Xiuhong Li   +11 more
core   +1 more source

Table1_Cord blood fatty acid binding protein 4 and lipids in infants born small- or large-for-gestational-age.pdf

open access: yes, 2023
AimAdverse (poor or excessive) fetal growth “programs” an elevated risk of type 2 diabetes. Fatty acid binding protein 4 (FABP4) has been implicated in regulating insulin sensitivity and lipid metabolism relevant to fetal growth.
Hua He (120374)   +15 more
core   +1 more source

Cost-effectiveness of a gestational age metabolic algorithm for preterm and small-for-gestational-age classification [PDF]

open access: yes, 2020
Translational Obstetrics.Background: Preterm birth complications are the leading cause of death among children under 5 years of age, and this imposes a heavy burden on healthcare and social systems, particularly in low- and middle-income countries ...
Murray, JC   +7 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Impact of Scotland's smoke-free legislation on pregnancy complications: retrospective cohort study [PDF]

open access: yes, 2012
<b>Background:</b> Both active smoking and environmental tobacco smoke exposure are associated with pregnancy complications. In March 2006, Scotland implemented legislation prohibiting smoking in all wholly or partially enclosed public ...
Mackay Daniel F.   +15 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

open access: yesAmerican 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

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy