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C Goecke, C Mellado, C García, H García
BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur...
February 2018: Revista Chilena de Pediatría
M B Rocchi, C Perlini, R Ciatti, M Burroni
BACKGROUND: To verify statistically the hypothesis that birthdate represents a risk factor for Congenital Hypothyroidism, as proposed by some European Authors. Moreover, to verify the existence of seasonal cyclic trends in TSH levels. METHODS: For the verification of birthdate as a risk factor, we considered retrospectively a data set of all consecutives newborns of Marche Region (Italy) affected by Congenital Hypothyroidism, in the period 1981-1996 (n = 92). For the evaluation of seasonal cyclic trends in TSH, we considered the level of the hormone in all newborns of Marche Region screened in the period 1989-1996...
December 2001: Minerva Pediatrica
G Nilsson, S Nordlander, K Levin
Subclinical hypothyroidism is an example of the impact of technology on the concept of a disease. It denotes a condition in which laboratory findings, at least including a raised serum thyrotropin (s-TSH), indicate hypothyroidism in the absence of clinical signs or symptoms of this disease. One reason for attention to cases of subclinical hypothyroidism is the publication of reports, from the time before introduction of the s-TSH assay, that hypercholesterolaemia precedes other evidence of thyroid failure with attendant risks of ischaemic heart disease and other atherosclerotic manifestations...
1976: Acta Medica Scandinavica
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