ABSTRACT
PURPOSE: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease characterized by impaired adrenal steroidogenesis and most often caused by CYP21A2 gene mutations. For the first time, we reported complete spectrum and frequency of CYP21A2 gene mutations in 61 unrelated patients with classical and non-classical CAH from Serbia. METHODS: Direct DNA sequencing of whole CYP21A2 gene and polymerase chain reaction with sequence-specific primers for detection of CYP21A1P/CYP21A2 chimeras were combined. RESULTS: We identified 18 different pathogenic alleles-two of them novel. Mutation detection rate was highest in patients with salt-wasting form of CAH (94.7%). The most prevalent mutation was intron 2 splice site mutation, c.290-13A/C>G (18.5%). Other mutation frequencies were: CYP21A1P/CYP21A2 chimeras (13%), p.P30L (13%), p.R356W (11.1%), p.G110fs (7.4%), p.Q318X (4.6%), p.V281L (4.6%), p.I172N (2.8%), p.L307fs (2.8%), p.P453S (1.9%), etc. Mainly, frequencies were similar to those in Slavic populations and bordering countries. However, we found 6.5% of alleles with multiple mutations, frequently including p.P453S. Effects of novel mutations, c.386T>C (p.Leu129Pro) and c.493T>C (p.Ser165Pro), were characterized in silico as deleterious. The effect of well-known mutations on Serbian patients' phenotype was as expected. CONCLUSIONS: The first comprehensive molecular genetic study of Serbian CAH patients revealed two novel CYP21A2 mutations. This study will enable genetic counseling in our population and contribute to better understanding of molecular landscape of CAH in Europe.
Subject(s)
Adrenal Hyperplasia, Congenital/genetics , Mutation/genetics , Steroid 21-Hydroxylase/genetics , Alleles , Genotype , Humans , Mutation Rate , Phenotype , SerbiaABSTRACT
In 41 patients suffering from hypertension blood pressure values obtained in routine examinations in an outpatient clinic were analysed by correlating the highest values of blood pressure measured using the 24-hour monitoring model developed by Holter and those obtained in exertion tests developed by Bruce. The correlation coefficients indicated poor correlation. The results proved the author's hypothesis that it was not possible to predict blood pressure development in 24-hour monitoring based on values of blood pressures obtained in routine outpatient practice only nor could these values be used for the assessment of work performance. It can be concluded that individual functional testing of patients suffering from hypertension is the best method for assessing their work performance.
Subject(s)
Blood Pressure Monitoring, Ambulatory , Hypertension/diagnosis , Work , Female , Humans , Male , Middle AgedSubject(s)
Fracture Fixation, Internal , Talus/injuries , Talus/surgery , Adolescent , Adult , Female , Follow-Up Studies , Fracture Fixation, Internal/methods , Humans , Male , Middle AgedSubject(s)
Femoral Fractures/surgery , Bone Plates , Bone Screws , Fracture Fixation, Internal/methods , HumansABSTRACT
The femoral shaft fracture, although not frequent, is still a severe injury. In this work 367 fractured femoral shafts treated during the last six years are reviewed. Three hundred and forty-seven patients were treated by operation of whom 276 were treated with intramedullary nail and previously boring of the medullar channel, almost all of them by open reduction. In 59 cases compression plate was applied. In the same time 20 femoral shaft fractures were treated conservatively. Amoung other complications infection and pseudoarthrosis should be particulary mentioned which occurred in 5,2% and 3,3% respectively. The comparison between operative and conservative menagement was done by analysis of final results which included duration of the treatment and period necessary for the restitution of the function. On the basis of these results the authors conclude that majority of femoral fractures should be treated by intramedullary nailing.
