Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary

BACKGROUND: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in Hungary the national screening program was launched in 1976 with two screening centers. The aim of this study was the molecular characterization of the genotypes and analysis of genotype-phenotype correlation among patients with classic or variant galactosemia. PATIENTS AND METHODS: DNA samples from 40 patients were analyzed by polymerase chain reaction followed by direct sequencing. RESULTS: 16 different sequence variations were identified, including two novel missense mutations (p.S297P, p.E146D). The two most common mutations were p. Q188R and p.K285N with allele frequencies of 45% and 31.2%, respectively. Clinical data were evaluated with respect to the genotypes found. CONCLUSIONS: The most serious clinical phenotypes in our population were associated with mutations p. Q188R, p.K285N, p.X380R, p.S297P, p.M142K, p.R.204X, p.Q169K and p.R407P, but manifestations depend on other genetic and environmental factors

Osteoblastoma of the elbow: analysis of 13 patients and literature review

Purpose To analyze the clinical and radiographic characteristics, treatment, and outcome of patients with elbow osteoblastoma. Patients and methods We present 13 patients (7 males and 6 females; mean age, 28 years) diagnosed and treated for an elbow osteoblastoma from 1975 to 2012. Mean follow-up was 29 months (range 12–60 months). Clinical presentation, imaging, surgical treatment, complications, range of elbow motion, and functional outcome were evaluated. The MSTS, DASH, and OXFORD scores were used. Results Main symptom was pain (all patients) accompanied by stiffness (8 patients) and swelling or tumefaction (7 patients), with a median duration of symptoms of 32 months (range 6–96 months). Distal humerus was affected in 10 patients, proximal ulna in 2 patients, and proximal radius in one patient. All patients underwent surgical therapy that consisted of curettage of the lesion (7 patients), curettage and bone allografting (3 patients), wide resection (2 patients; total distal humerus and resection of the radial head), and radiofrequency thermal ablation (1 patient). One patient experienced a recurrence after surgical treatment. The mean MSTS score after treatment was 87% (range 50–100%), which corresponds to excellent results Conclusions Intralesional surgery is successful in tumor control in most patients with osteoblastoma of the elbow. Thermal ablation may be successful for smaller lesions. Most of the patients had a good-to-excellent functional outcome even if they had tumor-related elbow stiffness at diagnosis