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1.
Neuromuscul Disord ; 24(2): 134-42, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24300782

ABSTRACT

In preclinical studies growth hormone and its primary mediator IGF-1 have shown potential to increase muscle mass and strength. A single patient with spinal muscular atrophy reported benefit after compassionate use of growth hormone. Therefore we evaluated the efficacy and safety of growth hormone treatment for spinal muscular atrophy in a multicenter, randomised, double-blind, placebo-controlled, crossover pilot trial. Patients (n = 19) with type II/III spinal muscular atrophy were randomised to receive either somatropin (0.03 mg/kg/day) or placebo subcutaneously for 3 months, followed by a 2-month wash-out phase before 3 months of treatment with the contrary remedy. Changes in upper limb muscle strength (megascore for elbow flexion and hand-grip in Newton) were assessed by hand-held myometry as the primary measure of outcome. Secondary outcome measures included lower limb muscle strength, motor function using the Hammersmith Functional Motor Scale and other functional tests for motor function and pulmonary function. Somatropin treatment did not significantly affect upper limb muscle strength (point estimate mean: 0.08 N, 95% confidence interval (CI:-3.79;3.95, p = 0.965), lower limb muscle strength (point estimate mean: 2.23 N, CI:-2.19;6.63, p = 0.302) or muscle and pulmonary function. Side effects occurring during somatropin treatment corresponded with well-known side effects of growth hormone substitution in patients with growth hormone deficiency. In this pilot study, growth hormone treatment did not improve muscle strength or function in patients with spinal muscular atrophy type II/III.


Subject(s)
Hormone Replacement Therapy , Human Growth Hormone/therapeutic use , Spinal Muscular Atrophies of Childhood/drug therapy , Adolescent , Adult , Child , Cross-Over Studies , Disability Evaluation , Double-Blind Method , Female , Hormone Replacement Therapy/adverse effects , Human Growth Hormone/adverse effects , Humans , Lower Extremity/physiopathology , Male , Motor Activity/drug effects , Muscle Strength/drug effects , Pilot Projects , Respiratory Function Tests , Spinal Muscular Atrophies of Childhood/physiopathology , Treatment Outcome , Upper Extremity/physiopathology , Young Adult
2.
Clin Genet ; 83(1): 53-65, 2013 Jan.
Article in English | MEDLINE | ID: mdl-22283495

ABSTRACT

Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic features of patients with clinically significant CNV were compared with those without pathogenic CNVs. Array CGH detected pathogenic CNVs in 13.2% of the patients. Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results. Thus, we assume that in patients with unexplained DD/ID, array CGH will more probably detect a significant CNV if any of these features is part of the patient's phenotype.


Subject(s)
Comparative Genomic Hybridization/methods , DNA Copy Number Variations/genetics , Developmental Disabilities , Intellectual Disability , Adolescent , Child , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Failure to Thrive/genetics , Failure to Thrive/physiopathology , Female , Humans , Infant , Intellectual Disability/genetics , Intellectual Disability/physiopathology , Male , Microcephaly/genetics , Microcephaly/physiopathology , Phenotype , Retrospective Studies
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