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463 results
  • Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration. [Journal Article]
    Neuropediatrics 2019Hornemann F, Le Duc D, … Merkenschlager A
  • CONCLUSIONS: Autophagy-related X-linked BPAN disease might still be underdiagnosed in female cases of infantile spasms.Skewed X-inactivation will have mainly influenced the uncommon, very early childhood neurodegenerative symptomatology in the present BPAN case. Oral levodopa substitution led to improvement in sleep disorder, hypersalivation, and swallowing.Reduced white matter and hypointense signals in SN and GP on susceptibility sequences in magnetic resonance imaging are characteristic radiological findings of advanced disease in NBIA. No BPAN-typical halo sign in T1-weighted scan at midbrain level was seen at the age of 11 years. NBIA panel is recommended for early diagnosis.
  • Androgens in Congenital Adrenal Hyperplasia. [Journal Article]
    Front Horm Res 2019; 53:65-76Pignatelli D, Pereira SS, Pasquali R
  • Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles of the CYP21A2 gene. Since the identification of mild, non-classic forms of this disease, CAH has been recognized to …
  • Clinical, biochemical and gender characteristics of 97 prepubertal children with premature adrenarche. [Journal Article]
    J Pediatr Endocrinol Metab 2019Santos-Silva R, Costa C, … Fontoura M
  • Background Premature adrenarche (PA) is defined as the appearance of clinical signs of androgen action associated with levels of dehydroepiandrosterone sulfate (DHEAS) ≥40 μg/dL, before age 8 years in girls and 9 years in boys, without breast or testicular enlargement. The aim of this study was to characterize a population of prepubertal Caucasian children with PA and to compare them with regard …
  • StatPearls: Precocious Puberty [BOOK]
    StatPearls Publishing: Treasure Island (FL) Kota Archana S. AS Nassau University Medical Center Ejaz Sehar S Nassau University Medical Center BOOK
  • Puberty is a complex transitional phase in children generally comprising of growth acceleration and development of secondary sexual characteristics. It is a period of physical and psychosocial development. Several genetic, environmental and nutritional factors play an important role in the onset and progression of puberty.[1] Physiology of puberty Puberty results from the activation and maturatio…
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