Prevalence and mutations of ß-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey.

The prevalence of ß-thalassemia (ß-thal) carriers in Turkey varies according to region but in general it is 2.0%. Çanakkale is a city in the Aegean region of Turkey but no study about ß-thal frequency in Çanakkale has been published to date. In this study, we aimed to investigate the frequency of ß-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Çanakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 ß-thal carriers seen at the Medical Genetics Clinic, Çanakkale Onsekiz Mart University, Çanakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for ß-thal carriers in Çanakkale was identified as 1.4% (125/8904). One couple were both ß-thal carriers. ß-Globin gene analysis of 46 carriers found the total frequency of the three most common mutations was 45.6%. These mutations were found to be HBB: c.93-21G>A [IVS-I-110 (G>A)], 26.08% (12/46); HBB: c.17_ 18delCT [codon 5 (‒CT)], 10.85% (5/46); HBB: c.20delA [codon 6 (‒A)] 8.69% (4/46). This is the first report on the frequency and mutation profiles of ß-thal for Çanakkale. The incidence of ß-thal carriers in Çanakkale is below the average for Turkey. The most frequently observed mutation profile and rate of ß-thal in our region is different from the other regions of Turkey.

Are blood pressure values compatible with medication adherence in hypertensive patients?

BACKGROUND AND AIM: In the management of hypertension (HT), maintaining the medication adherence with treatment is as important as starting treatment. Studies have shown that the majority of patients taking medication do not reach their target values. This study aimed to investigate the relationship between the patient medication adherence and blood pressure (BP) values and reflection to general well-being. MATERIAL AND METHODS: The study included 259 primary HT patients. The patients with BP measurements completed the Medication Adherence Self-Efficacy Scale-Short Form 13 and the World Health Organization-5 (WHO-5) well-being index. A Holter device was attached, and 24 h BP monitoring was completed. RESULTS: The mean points for medication adherence scale was 29.2 ± 10.3 (1-40) and mean WHO-5 points was 13.7 ± 4.6 (4-25) for patients. Clinical mean systolic BP was 140.0 ± 12.6 and diastolic 84.8 ± 9.0 mm Hg, while 24 h mean BP was systolic 119.5 ± 10.6 and diastolic 73.3 ± 8.1 mm Hg. While there was negative correlation between medication adherence scale scores and clinical systolic BP (r = -0.171; P = 0.006), there was no correlation with other BP readings. There was no correlation with the WHO-5 score and clinical readings, though there was a positive correlation between ambulatory mean systolic and diastolic BP (r = 0.141; P = 0.023 and r = 0.123; P = 0.049, respectively). There was positive correlation between the patient's medication adherence scores and the WHO-5 scores (r = 0.141; P = 0.023). CONCLUSION: When clinicians assess medication adherence of patients, they should benefit from objective BP measurements and scales. Subjective and objective findings are important while making clinical decision.

Clinical and functional outcomes and treatment options for paediatric elbow dislocations: Experiences of three trauma centres.

Although elbow dislocations are seen rarely in children, their management remains controversial. In this study, over a 7 years period, we evaluated retrospectively the clinical and functional results of paediatric elbow dislocations managed in three different trauma centres. Pure dislocations and dislocations with associated injuries were evaluated separately. In total 56 patients met the inclusion criteria. The number of patients without additional injury was 22 out of which according to the Robert's criteria, 15 children (68%) had an excellent, four (18%) a good, one (5%) a fair, and two (9%) a poor outcome. From the thirty-four patients that had associated injuries, two (6%) had an excellent, 6 (18%) a good, 10 (29%) a fair and 16 (47%) a poor result. Overall, patients with pure dislocation were found to have a better range of motion compared to patients with dislocation and associated injuries. Prolonged follow ups, and effective rehabilitation programs are required in order to expect good outcomes.

Double translocation: an interesting family history.

Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chromosome analysis indicated that the male partner's karyotype was 45,XY, t(3;18)(q11;ptel)t(13;14)(q10;q10). The same double balanced translocation was found in two others family members.

New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels.

A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.