Results 101 to 110 of about 38,143 (313)

Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations [PDF]

, 2012
Increasingly sophisticated measurement technologies have allowed the fields of metabolomics and genomics to identify, in parallel, risk factors of disease; predict drug metabolism; and study metabolic and genetic diversity in large human populations. Yet
Dumas, ME, Holmes, E, Nicholson, JK, Robinette, SL   +3 more
core   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín   +15 more
doaj   +1 more source

Inborn errors of copper metabolism [PDF]

, 2013
Two copper-transporting ATPases are essential for mammalian copper homeostasis: ATP7A, which mediates copper uptake in the gastrointestinal tract and copper delivery to the brain, and ATP7B, which mediates copper excretion by the liver into bile. Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents ...
openaire   +2 more sources

Machine learning‐based prediction of large‐for‐gestational‐age neonates in diabetic and non‐diabetic pregnancies

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study determines whether a machine‐learning model integrating sonographic biometry with maternal clinical parameters improves prediction of large‐for‐gestational‐age (LGA) compared with Hadlock's EFW formula. Methods We conducted a retrospective cohort study including all singleton live births at ≥32 gestational weeks at a ...
Ohad Houri, Asaf Romano, Asnat Walfisch, Eran Hadar, Yinon Gilboa, Leor Perl, Nadav Loebl, Ron Unger   +7 more
wiley   +1 more source

Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells

Neurobiology of Disease, 2008
Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

Subclinical cardiac alterations and cardiometabolic profile in adolescents with newly diagnosed polycystic ovary syndrome: A cross‐sectional comparative echocardiographic study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective While cardiometabolic comorbidities have been well established in adults with polycystic ovary syndrome (PCOS), it remains unclear whether the early signs of cardiovascular morbidity emerge during adolescence. This study aimed to investigate whether metabolic and cardiovascular alterations begin in adolescents with PCOS.
Demet Aygün Ari, Melis Pehlivantürk Kizilkan, Musa Öztürk, İlker Ertuğrul, Hayrettin Hakan Aykan, Tevfik Karagöz, Nuray Kanbur, Orhan Derman, Sinem Akgül   +8 more
wiley   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

A Framework to Establish Diet and Nutrition Competencies for Oral Health Care Education

Journal of Dental Education, EarlyView.
ABSTRACT Objective: To prevent and manage oral disease, oral health care practitioners (OHCPs) must provide dietary counseling based on nutrition science. OHCPs are often ill‐equipped to provide such counseling due to fragmented and inadequate dietary education, which is typically attributed to limited curricular time or appropriately qualified faculty.
Teresa A. Marshall, Michael Crowe, Riva Touger‐Decker   +2 more
wiley   +1 more source

Hepatocytes in the development of liver support systems [PDF]

, 1993
This thesis focuses on the development of alternative strategies in the treatment of patients with acute fulminant hepatic failure and inborn errors of metabolism, using hepatocytes as the basis of liver support.
Borel Rinkes, I.H.M. (Inne)
core   +1 more source