No abstract

Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The diVerences between the two groups are not striking, and although similarities are greater between aVected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown. (J Med Genet 1999;36:786-789)

Background and objectives: Our aim was to evaluate the growth-promoting effect of growth hormone (GH) treatment in infants with chronic renal failure (CRF) and persistent growth retardation despite adequate nutritional and metabolic management.Design, setting, participants, & measurements: The study design included randomized, parallel groups in an open, multicenter trial comparing GH (0.33 mg/kg per wk) with nontreatment with GH during 12 months. Sixteen infants who had growth retardation, were aged 12 ؎ 3 months, had CRF (GFR <60 ml/min per 1.73 m 2 ), and had adequate nutritional intake and good metabolic control were recruited from eight pediatric nephrology departments from Spain and Portugal. Main outcome measures were body length, body weight, bone age, biochemical and hormonal analyses, renal function, bone mass, and adverse effects.Results: Length gain in infants who were treated with GH was statistically greater (P < 0.05) than that of nontreated children (14.5 versus 9.5 cm/yr; SD score 1.43 versus ؊0.11). The GH-induced stimulation of growth was associated with no undesirable effects on bone maturation, renal failure progression, or metabolic control. In addition, GH treatment improved forearm bone mass and increased serum concentrations of total and free IGF-I and IGF-binding protein 3 (IGFBP-3), whereas IGF-II, IGFBP-1, IGFBP-2, GH-binding protein, ghrelin, and leptin were not modified.Conclusions: Infants with CRF and growth retardation despite good metabolic and nutritional control benefit from GH treatment without adverse effects during 12 months of therapy.

Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. Two known mutations were found in the Thanatophoric Dysplasia referred cases. No mutations were identified in the LADD syndrome patient. In Achondroplasia and Hypochondroplasia, genetic heterogeneity was present amongst the 70 clinically diagnosed patients with 5 different mutations identified. As in other studies, complex phenotypic heterogeneity amongst patients carrying the same gene defect was observed. In several cases, the new amino acids encoded, as a consequence of mutations, were related to the severity of patients' phenotype. The presence of 10 misdiagnosed cases emphasizes the importance of performing mutation analysis of the hotspot regions responsible for both dysplasias (Ach and Hch). For patients with an unquestionable clinical diagnosis, lacking the most common mutations, a complete screening of FGFR3 is necessary.

Introdução: A qualidade de vida pode estar relacionada com o estado clínico do paciente, com o nível de infecção e com o microorganismo que o infecta. Objetivo: Analisar o perfil bacteriológico do escarro de pacientes com bronquiectasia e avaliar seu efeito no transporte in vitro e na qualidade de vida dos pacientes. Métodos: Pacientes com bronquiectasia foram avaliados por questionários de qualidade de vida, cultura bacteriana e transporte in vitro do escarro. Resultados: Foram incluídos 19 pacientes com bronquiectasia, com média de idade de 38,6 ± 16 anos. O grupo de portadores de bactérias potencialmente patogênicas, com 10 pacientes (grupo I), foi comparado ao grupo de portadores de bactérias não patogênicas, com 9 pacientes (grupo II). O grupo I teve menor velocidade relativa e maior deslocamento por tosse que o grupo II (p < 0,05). Pelo questionário do Hospital Saint George, na doença respiratória, o grupo I apresentou pior qualidade de vida (domínio impacto) (p < 0,05). Pelo World Health Organization Quality of Life-abreviado, o grupo I também apresentou pior qualidade de vida (domínio físico). Em relação à cor do escarro, quanto mais escuro, menor a velocidade relativa de transporte ciliar (r =-0,646; p = 0,007) e maior o deslocamento por tosse (r = 0,756; p = 0,001). Conclusão: Pacientes com bronquiectasia portadores de bactérias potencialmente patogênicas no escarro apresentam pior qualidade de vida e pior transporte ciliar no palato de rã, porém têm melhor deslocamento do escarro na máquina de tosse quando comparados àqueles sem bactérias potencialmente patogênicas.