Factors affecting adherence with foot abduction orthosis following Ponseti method

Objective: The Ponseti method is an effective protocol for treatment of congenital idiopathic clubfoot. Foot abduction orthosis (FAO) is sometimes necessary to preserve the correction achieved with the serial casting and tenotomy. Patient and family adherence to brace use is a common problem, as nonadherence is directly related to relapse. The aim of this study was to investigate patient and parent characteristics related to relapse

Tonnis triple pelvic osteotomy for Legg-Calve-Perthes disease

WOS: 000350369800017PubMed: 25417791Purpose The aim of this study is to evaluate the efficacy of Tonnis triple pelvic osteotomy in patients with LCP disease. Methods Between 2007 and 2011, Tonnis triple pelvic osteotomy was performed for 43 patients with LCP, in our institute. During the follow-ups of patients with LCP the indications for the surgery were lateralization of the femoral head, insufficient femoral head coverage and subluxation of the femoral head. The mean age of patients at the time of surgery was 9.4 years. Results Before surgical intervention, according to Waldenstrom classification, three patients were in the necrosis stage (7 %), six patients in the fragmentation stage (13.9 %), 16 patients in the re-ossification stage (37.2 %) and 18 patients in the remodeling stage (41.9 %). According to Herring classification, four patients were in group B (9.3 %), one patient in group B/C (2.3 %) and 38 patients in group C (88.4 %). After the operation, patients were evaluated with Stulberg classification, and good outcome (Stulberg I/II) was achieved in 23 patients (53, 5 %), fair outcome (Stulberg III) in 16 patients (37, 2 %) and poor outcome (Stulberg IV/V) was seen in only four patients (9.3 %). The mean value of CEA was 0.37 degrees pre-operatively and in the last follow-ups the mean value of CEA was 23.7 degrees. Conclusions We recommend triple pelvic osteotomy for patients with LCP when conservative methods are not successful. According to our results we believe that Waldenstrom classification is a better option than Herring classification to determine the prognosis of disease after containment surgery

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat glands, and delayed mental and motor development. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1), a receptor in the neurotrophin signaling pathway phosphorylated in response to nerve growth factor, are associated with this disorder. We identified six families from Northern Central Turkey with HSAN IV. We screened the NTRK1 gene for mutations in these families. Microsatellite and single nucleotide polymorphism (SNP) markers on the Affymetrix 250K chip platform were used to determine the haplotypes for three families harboring the same mutation. Screening for mutations in the NTRK1 gene demonstrated one novel frameshift mutation, two novel nonsense mutations, and three unrelated kindreds with the same splice-site mutation. Genotyping of the three families with the identical splice-site mutation revealed that they share the same haplotype. This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

Abstract Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat glands, and delayed mental and motor development. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1), a receptor in the neurotrophin signaling pathway phosphorylated in response to nerve growth factor, are associated with this disorder. We identified six families from Northern Central Turkey with HSAN IV. We screened the NTRK1 gene for mutations in these families. Microsatellite and single nucleotide polymorphism (SNP) markers on the Affymetrix 250K chip platform were used to determine the haplotypes for three families harboring the same mutation. Screening for mutations in the NTRK1 gene demonstrated one novel frameshift mutation, two novel nonsense mutations, and three unrelated kindreds with the same splice-site mutation. Genotyping of the three families with the identical splicesite mutation revealed that they share the same haplotype

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members