Aysegul Bursali

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.

An effective treatment for hip instabilities: pelvic support osteotomy and femoral lengthening

OBJECTIVE In this study, we evaluated the effectiveness of pelvic support osteotomy treatment in hip instabilities due to various etiologies. METHODS We retrospectively evaluated 21 hips of 20 patients that underwent pelvic support osteotomy between 2005 and 2007. Hip instability was caused by a neglected congenital dislocation of the hip in 12 of the patients (13 hips), by septic arthritis in 7 and by an unsuccessful total hip arthroplasty due to infection in the last patient. The mean age of the patients was 22.6 (range: 12 to 34) years. Osteotomy sites were fixed using monolateral external fixators in 11 patients, Ilizarov circular fixators in 8, and locking plates for both hips of the remaining patient. The mean follow-up period was 33.45 (range: 16 to 45) months. RESULTS The mean Harris score increased from 48.3 preoperatively to 80.1 postoperatively. Preoperative mean limb length discrepancy was 53.3 mm and mean proximal migration was 42.9 mm. Residual limb length discrepancy was reduced to 16 mm after an average lengthening of 63.3. The preoperative Trendelenburg gait disappeared completely in 13 of 21 hips and was improved in 8 hips. Sixteen of the 20 patients (17 hips) expressed satisfaction with the operation. CONCLUSION Pelvic support osteotomy is a good treatment option to overcome hip instability as it improves pain and equalizes limb length.

Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus

In this study, we have evaluated the changes observed in the main arteries of the foot before and after the Ponseti technique. Arterial structures of seven patients were examined using Doppler ultrasound and the parameters studied included the course of the arteries, lumen filling, flow direction, pattern, and velocity. Before the treatment, the side with congenital talipes equinovarus deformity showed decreased blood flow in all arteries, except for the posterior tibial artery. At the second examination, the increase in the flow velocity of both arteries except tibialis anterior arteries was statistically significant. The Ponseti method results in normalization of the arterial structures in extremities with congenital talipes equinovarus.

Temporary hemiepiphysiodesis for spastic hips.

To the Editor: We have read with great interest the article “Guided Growth of the Proximal Femur: A Pilot Study in the Lamb Model” by McCarthy et al published in the October/November 2010 issue of Journal of Pediatric Orthopaedics. The article is potentially important because literature regarding the treatment options for hip problems in pediatric patients with cerebral palsy is very limited. In this study, the authors state that applying a screw hemiepiphysiodesis has the potential of altering the growth of the proximal femur in the lamb model. Thus, they conclude that given its benefit, the technique may be a useful adjunct to the treatment or prevention of proximal hip deformity in children. They also emphasize that it is the first study in the literature assessing the effects, efficacy, or benefits of hemiepiphysiodesis of the longitudinal growth plate in the femoral epiphysis. However, this last information is not confronting with the existing literature about this issue. Portinaro et al introduced the Early Multilevel Minimally Invasive Approach for managing hip problems of patients with cerebral palsy in 2009. According to this report, the Early Multilevel Minimally Invasive Approach 3 protocol, which is the third stage of the approach, is a combination of soft tissue and bone surgery including temporary epiphysiodesis of the medial plate of the femoral head by cannulated screws. The technique was used for 3 patients with spastic hip and the authors have not encountered any hip dislocations or migrations in these patients in the follow-ups. After publication of Portinaro et al report, we have also performed this technique for one of our patients with spastic hip and the patient is still being followed with promising shortterm results. We believe that this technique is a useful treatment option for spastic hips with valgus angulation; however, it is not a new technique unlike the authors mentioned.

İdiopatik Juvenil Osteoporoz: Olgu Sunumu

Idiopatik juvenil osteoporoz cocukluk caginda baslayan progressif osteoporoz nedeniyle ortaya cikan orantisiz boy kisaligi ile karakterize bir hastaliktir Oniki yasindaki bir erkek cocugunda boy kisaligi belirgin kifoskolyoz kemik grafilerinde saptanan yaygin ve agir osteoporoz ile idiopatik juvenil osteoporoz tanisi kondu Nadir gorulen bu hastalik literatur bilgileri isiginda gozden gecirildi Anahtar kelimeler: Idiopatik Juvenil Osteoporoz Kifoskolyoz Boy Kisaligi