A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function

Cardiac structural involvement in mucopolysaccharidoses

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4-22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS

Bucolome and albumin-bilirubin binding capacity in infants

No abstract available

Defective bone mineral density in Marfan syndrome.

A patient with Marfan syndrome and a demonstrated severely reduced bone mineral density is reported

Limp due to renal tubular dysfunction as diagnostic clue for hereditary tyrosinemia type 1.

A child with muscular weakness and limp is reported as an example of how heterogeneous might be the clinical presentation of tyrosinemia type 1

Pediatric use of thoracic high-resolution CT in the diagnosis of idiopathic pulmonary fibrosis. A case report

La descrizione di questo caso sottolinea l'utilit\ue0 della tomografia computerizzata nella gestione della fibrosi polmonare idiopatica, malattia rara e grave se ad esordio in et\ue0 pediatrica

Effect of combined treatment with gonadotropin-releasing-hormone analog and growth-hormone in patients with central precocious puberty who had subnormal growth velocity and impaired height prognosis

Growth hormone-insulin-like growth factor-I status and response to growth hormone therapy (0.6IU/kg/week sc, six times a week for 12 months) were evaluated in 12 girls (chronological age 9.4 +/- 1.6 years) suffering from central precocious puberty with growth velocity less than 4 cm/year and no substantial increase or decrease in predicted adult height during gonadotropin releasing hormone (Gn-RH) analogue treatment(D-Trp(6)-LH-RH, 60 mu g/kg im/28 days). At baseline, large variations were observed in nocturnal growth hormone (GH) means (pathological values (< 3.6 mu g/l) 33.3%), stimulated levodopa GH peaks (pathological values (<10.0 mu g/l) 28.6%) and serum insulin-like growth factor-I (IGF-I) levels. Neither GH nor IGF-I levels were correlated with growth velocity. During recombinant GH therapy, growth velocity increased significantly (baseline 3.0 +/- 0.9 cm/year; 6 months 6.4 +/- 1.9 cm/year, p < 0.001 versus baseline; 12 months 6.0 +/- 1.3 cm/year, p < 0.001 versus baseline). There was a significant increase in height SDS for bone age (baseline -1.6 +/- 0.5 SDS; 12 months -1.04 +/- 0.6 SDS; p < 0.002) and in predicted adult height (baseline 152.0 +/- 3.6 cm; 12 months 155.9 +/- 3.4 cm; p < 0.002). Our results suggest that combined therapy with Gn-RH analogues and recombinant GH can improve growth velocity and predicted adult height in girls with central precocious puberty and impaired height prognosis during Gn-RH analogue treatment

Effect of combined treatment with gonadotropin releasing hormone analogue and growth hormone in patients with central precocius puberty who had subnormal growth velocity and impaired height prognosis

Growth hormone-insulin-like growth factor-I status and response to growth hormone therapy (0.6IU/kg/week sc, six times a week for 12 months) were evaluated in 12 girls (chronological age 9.4 +/- 1.6 years) suffering from central precocious puberty with growth velocity less than 4 cm/year and no substantial increase or decrease in predicted adult height during gonadotropin releasing hormone (Gn-RH) analogue treatment(D-Trp(6)-LH-RH, 60 mu g/kg im/28 days). At baseline, large variations were observed in nocturnal growth hormone (GH) means (pathological values (< 3.6 mu g/l) 33.3%), stimulated levodopa GH peaks (pathological values (<10.0 mu g/l) 28.6%) and serum insulin-like growth factor-I (IGF-I) levels. Neither GH nor IGF-I levels were correlated with growth velocity. During recombinant GH therapy, growth velocity increased significantly (baseline 3.0 +/- 0.9 cm/year; 6 months 6.4 +/- 1.9 cm/year, p < 0.001 versus baseline; 12 months 6.0 +/- 1.3 cm/year, p < 0.001 versus baseline). There was a significant increase in height SDS for bone age (baseline -1.6 +/- 0.5 SDS; 12 months -1.04 +/- 0.6 SDS; p < 0.002) and in predicted adult height (baseline 152.0 +/- 3.6 cm; 12 months 155.9 +/- 3.4 cm; p < 0.002). Our results suggest that combined therapy with Gn-RH analogues and recombinant GH can improve growth velocity and predicted adult height in girls with central precocious puberty and impaired height prognosis during Gn-RH analogue treatment