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Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome [PDF]
We described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal ...
Valeria Calcaterra +9 more
doaj +2 more sources
AbstractIn childhood, the risk for seizures is greatest in the neonatal period. Currently used therapies have limited efficacy. Although the treatment of neonatal seizures has not significantly changed in the past several decades, there has been substantial progress in understanding developmental mechanisms that influence seizure generation and ...
Silverstein, Faye Sarah +1 more
openaire +3 more sources
Ischemic stroke as a rare cause of seizures in a newborn – case report
Background: Identifying etiology of seizures is the primary clinical objective in the management of neonatal seizures (NS). About 85 % of NS cases occurr as a consequence of a specific, identifiable etiology.
Karolina Widłak +8 more
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Background Vitamin B12 (cobalamin, cbl) deficiency in children is rare and may occurs in exclusively breast fed infants of mothers on vegetarian or vegan diet with lack of appropriate supplementation.
Cezary Dubaj +2 more
doaj +1 more source
Neonatal stroke in premature neonates
There are many neuro-imaging studies on the presence of brain lesions in the preterm infant, using cranial ultrasound (cUS) and/or term equivalent age MRI (TEA-MRI). These studies however tend to focus on germinal matrix-intraventricular hemorrhage (GMH-IVH) and white matter injury.
Steggerda, S.J., Vries, L.S. de
openaire +4 more sources
Introduction To verify the effectiveness of intervention in early pregnancy for women with early-onset gestational diabetes mellitus (GDM).Research design and methods This study included women with a singleton pregnancy who were diagnosed with early ...
Etsuko Miyagi +8 more
doaj +1 more source
Degenerated leiomyomas can rupture during pregnancy, and leakage of the fluid causes peritonitis in rare cases. If peritonitis associated with a degenerated leiomyoma is observed, the occurrence of rupture of the leiomyoma should be considered.
Mizuha Odagami +3 more
doaj +1 more source
Introduction According to the current state of knowledge, breastfeeding is the best method of feeding newborns, infants and young children. World organizations and associations and authorities of the medical world recommend breast milk as the most ...
Paula Jankowska +4 more
doaj +3 more sources
Mediante la técnica de Udenfriend y Cooper, se midieron los niveles de tirosina en la sangre del cordón de 26 prematuros y 31 niños de término, con el fin de comparar las concentraciones según la edad gestacional y detectar la presencia de la tirosinemia neonatal. Se encontró un caso de esta entidad en un niño de 31 semanas de edad gestacional, lo cual
Burgos Herrera, Luis Carlos +1 more
openaire +3 more sources
Objective: To investigate the association between neurodevelopmental complications and biparietal diameter (BPD) growth rate. Materials and Methods: The patients were pregnant women with severe fetal growth restriction (< 5th percentile) before 30 weeks ...
Yoshimi Hasegawa +4 more
doaj +1 more source

