Results 21 to 30 of about 44,731 (229)
An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this ...
Su-Jeong Lee +4 more
doaj +1 more source
NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]
, 2019 Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P +6 more
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Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]
, 2019 Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G. +7 more
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A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
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A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. [PDF]
, 2014 Four siblings presented with congenital diarrhea and various endocrinopathies. Exome sequencing and homozygosity mapping identified five regions, comprising 337 protein-coding genes that were shared by three affected siblings. Exome sequencing identified
Abbasi, Montaser +11 more
core +2 more sources
Case Reports in Pediatrics, 2018 Congenital hypothyroidism is a clinical emergency due to its potential risk of mental retardation. Constipation might be present in hypothyroid children. However, Hirschsprung disease is rarely associated with congenital hypothyroidism. Herein, a case of
Soraia Tahan +6 more
doaj +1 more source
Characteristics of thyroid nodules in infant with congenital hypothyroidism [PDF]
Korean Journal of Pediatrics, 2014 PurposeThis study aimed to assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism.MethodsA retrospective study of 660 infants (374 males, 286 females) diagnosed with congenital hypothyroidism was carried out ...
Seo Young Youn +3 more
doaj +1 more source
Data in Brief, 2018 This article contains data on the effective factors on congenital hypothyroidism (CH) that was learned from a case-control study designed in Khuzestan province in Iran. The data set of this article provides information on newborn descriptive features and
Yousef Alimohamadi +2 more
doaj +1 more source
BMC Pediatrics, 2010 Background Thyroid hormone treatment in children with congenital hypothyroidism can prevent intellectual disability. Guidelines recommend that children diagnosed with congenital hypothyroidism through newborn screening remain on treatment to at least 3 ...
Grosse Scott D +2 more
doaj +1 more source
A hidden cause of infertility in hypothyroid patients [PDF]
, 2020 Methylene tetrahydrofolate reductase (MTHFR) gene mutations could be the cause of infertility in hypothyroid patients. Hence, it is worthy to screen for MTHFR gene mutations in infertile hypothyroid females and their partners if infertility persists ...
Ahmed, Soha Magdy +4 more
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