Results 81 to 90 of about 177,391 (311)

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Massage Stimulation Reduces Tumor Necrotic Factor-alpha and Interleukin-6 in Preterm, Low Birth Weight with Appropriate Gestational Age Newborns [PDF]

, 2013
Preterm newborn is susceptible from various stresses such as infections or non infections. During stress, immune response is activated by synthesizing and releasing of cytokines from activated immune cells into the circulation.
Astawa, N. M. (N), Kusnandi, A. R. (and), Sotjiningsih, S. (S), Windiani, I. G. (I)   +3 more
core  

Training the Fetal Immune System Through Maternal Inflammation-A Layered Hygiene Hypothesis. [PDF]

, 2020
Over the last century, the alarming surge in allergy and autoimmune disease has led to the hypothesis that decreasing exposure to microbes, which has accompanied industrialization and modern life in the Western world, has fundamentally altered the immune
Apostol, April C, Beaudin, Anna E, Jensen, Kirk DC   +2 more
core  

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, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

The Study of Pulmonary Complication of Neonatal Mechanical Ventilation in NICU

پزشکی بالینی ابن سینا, 2016
Introduction & Objective: The main indication of mechanical ventilation is in the treatment of neonates with respiratory failure. With the increased use of mechanical ventilation, its complications have increased too.
Mohammad Kazem Sabzeie, Tahereh Sabouri, Mahdi Sokri, Behnaz Basiri,   +4 more
doaj  

Pregnancy lipidomic profiles and DNA methylation in newborns from the CHAMACOS cohort. [PDF]

, 2019
Lipids play a role in many biological functions and the newly emerging field of lipidomics aims to characterize the varying classes of lipid molecules present in biological specimens.
Bradman, Asa, Eskenazi, Brenda, HOLLAND, Nina, Huen, Karen, Lee, Douglas, Tindula, Gwen   +5 more
core  

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, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Prenatal tobacco smoke exposure increases hospitalizations for bronchiolitis in infants [PDF]

, 2015
BACKGROUND: Tobacco smoke exposure (TSE) is a worldwide health problem and it is considered a risk factor for pregnant women's and children's health, particularly for respiratory morbidity during the first year of life.
Adorni F, Agosti M, Aurilia C, Barberi I, Barboni G, Bertino E, Boldrini A, Bonomi A, Bottau P, Braibanti S, Carlucci A, Corona MF, Corsello G, Corso G, Coscia A, Dall’Agnola A, De Curtis M, De Luca MG, Del Vecchio A, Di Fabio S, Di Santo S, Ellero S, Fabiano A, Fabris C, Faccia P, Fanos V, Gabriele B, Gargano G, Gaudino M, Girardi E, La Forgia N, Ladetto L, Lanari M, Loprieno S, Macagno F, Magaldi R, Memo L, Molinari L, Musicco M, Natale F, Negri C, Ngalikpima CJ, Nicolini G, Nosari N, Orfeo L, Paolillo P, Parmigiani S, Piano F, Prinelli F, Puddu M, Rinaldi M, Romagnoli C, Sarnelli P, Silvestri M, Spinelli M, Umbaldo A, Vandini S, Vuerich M, Zorzi G, ” Faldella G   +59 more
core   +1 more source