Schimke immuno-osseous dysplasia (SIOD) is characterised by autosomal recessive inheritance, spondyloepiphyseal dysplasia causing growth retardation, defective cellular immunity, progressive nephropathy leading to renal failure, hyperpigmented macules, and dysmorphic facial features. Half of SIOD patients also have hypothyroidism, half episodic cerebral ischaemia, and a tenth bone marrow failur...

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is...

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed ...

Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. ...

Researchers have speculated that children and adolescents who experience an incongruity between the cultures of home and school (termed “home–school dissonance” or HSD) perform more poorly in the school setting and evidence poorer adjustment in general. A sample of 476 Māori and 1,024 European New Zealand (ENZ) adolescents, aged 11–16 years at Time 1, completed self-report measures of HSD, fami...

Bárta J., Bártová V. (2008): Patatin, the major protein of potato (Solanum tuberosum L.) tubers, and its occurrence as genotype effect: processing versus table potatoes. Czech J. Food Sci., 26: 347–359. Patatin relative abundance in SDS-extractable protein and patatin content in dry matter were evaluated in tubers of forty processing and table potato cultivars usually cultivated in the Czech Re...