Results 101 to 110 of about 349,129 (310)

Exploring reference ranges for thyroid-stimulating hormone in neonatal screening tests for preterm infants: a 5-year retrospective study

Frontiers in Pediatrics
PurposeCurrently, the same thyroid-stimulating hormone (TSH) cutoffs are used for term and preterm infants. Our objective was to determine TSH reference ranges and cut-off values for preterm infants born at different gestational ages (GA), birth weight ...
Xing Huang, Xing Huang, Fei Xiong, Fei Xiong, Shulan Zhu, Shulan Zhu, Fan Yang, Fan Yang   +7 more
doaj   +1 more source

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

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, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

stuDy oF accuracy oF commonly useDFetal Parameters For estimation oF gestational age

Journal of Nepal Medical Association, 2006
Estimation of the gestational age by sonographic measurements of fetal parameters is usually done by measuring mean sac diameter (MSD), Crown-rump length (CRL), biparietal diameter (BPD), head circumference (HC), femoral length (FL) and abdominal ...
Dan Bahadur Karki, U K Sharma, R K Rauniyar   +2 more
doaj   +1 more source

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

, 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., Haw, S.J., Nelson Scott M., Pell, J.P., Pell, Jill, Mackay, D.F., Jill P Pell, Nelson, Scott M, Daniel F Mackay, Nelson, S.M., Pell Jill P., Mackay, Daniel F, Sally J Haw, Haw, Sally, Haw Sally J., Scott M Nelson   +15 more
core   +1 more source

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

American 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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

On the use of the outcome variable “small for gestational age” when gestational age is a potential mediator: a maternal asthma perspective

BMC Medical Research Methodology, 2017
Background The variable “small for gestational age,” frequently defined as birth weight below the 10th percentile in a gestational age and sex-normalized population, is nowadays generally perceived as a more adequate measure than birth weight or low ...
Geneviève Lefebvre, Mariia Samoilenko
doaj   +1 more source

Birthweight-for-gestational-age z -scores are associated with early childhood cardiometabolic health in the Peri/Postnatal Epigenetic Twin Study

, 2023
t Birthweight has been consistently related to risk of cardiometabolic disorders in later life. Twins are at higher risk of low birthweight than singletons, so understanding the links between birthweight and cardiometabolic health may be particularly ...
K J Scurrah (13310223), Jeffrey Craig (13065240), Debbie Ashtree (13059327), M J Silva (13393089), C Sun (7673477)   +4 more
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Determinants of Age at Menarche in the Newcastle Thousand Families Study [PDF]

, 2005
Early life determinants of age at menarche were investigated for female participants in the longitudinal Thousand Families Study based in Newcastle upon Tyne.
Blell, Mwenza T.
core