Familial early-onset diabetes is not a typical MODY in several Tunisian patients.

BACKGROUND: MODY (Maturity-onset diabetes of the young), a dominantly inherited form of early-onset diabetes, is clinically and genetically heterogeneous with more than ten genetic subtypes described worldwide. AIM: To evaluate the possible existence of MODY in 12 young diabetic Tunisian patients by searching for mutations in the most prevalent MODY genes. METHODS: Twelve patients with diabetes in 2-to-3 generations, all diagnosed before age 31, were screened for mutations and deletions in HNF1A, HNF4A, INS, IPF1, NEUROD1 and GCK genes by Sanger sequencing and by Multiplex ligation-dependent probe amplification assay. RESULTS: The patients had no evidence of autoimmunity and a mean age at diabetes diagnosis of 25.66 ± 3.96 years with severe overt diabetes (fasting glycaemia: 10.91 ± 3.55 mmol/ l; HbA1c: 10.46 ± 3.31 %). Two subjects were initially treated with insulin. On the ten initially treated with OHA or on diet, eight converted to insulin therapy (within 3 months to 20 years). Molecular analysis showed only one missense HNF4A mutation (I453V) in one family. No mutations in the studied genes were detected in the other patients. CONCLUSION: A molecular defect in known MODY genes has been excluded in 11 patients with early-onset diabetes suggesting that other genetic causes may explain diabetes in these families. In such cases, new generation sequencing approaches may be well appropriate to identify specific molecular etiologies from extended families and to establish a strategy of molecular diagnostic of MODY in Tunisia.

Radial neck fracture in children: anatomic and functional results of Metaizeau technique.

Fractures of the radial neck accounts for 1% of all childhood fractures and 5% to 10% of childhood traumatic lesions involving the elbow. Intramedullary percutaneous nail reduction (Metaizeau technique) is considered the most effective surgical technique. The purpose of this study was to identify the main clinical features of radial neck fracture in children and to evaluate the anatomical and functional results of the Metaizeau technique. In this retrospective study, we evaluated 22 patients under the age of 16 who were treated for radial neck fracture at the orthopedic and trauma surgery department of Sahloul University Hospital in Sousse over a period of 16 years from January 2001 to April 2017. Authors used Metaizeau classification. Functional results were evaluated by Mayo elbow performance score (MEPS) and the radiological evaluation was based on standard images with measurement of the residual rocker. The average age was 8.6 years (5-13 years). Seven fracture were grade III injuries and three grade IV. In the immediate postoperative period, radiological measurements showed a residual rocker less than 20° in 86.3% and more than 20° in 13.7% of cases. At an average follow-up of 13 months and a half, the MEPS score was excellent and good for 17 patients. Four types of complications were found: necrosis of the radial head in 1 case, pseudarthrosis in 1 case, periarticular calcification in 2 cases and stiff-ness of the elbow in 3 cases. Despite the small number of patients in our series, we believe that the elastic stable intramedullary pinning according to the Metaizeau technique is the treatment of choice for displaced radial neck fractures in children.