ABO and Rh Blood Groups Distribution in Yozgat City, Turkey

Objective: In this retrospective study, we included 5257 healthy participants who admitted to Yozgat Government Hospital Blood Bank and Bozok University Blood Bank for several reasons to determine A, B, 0, AB blood groups and Rhesus (Rh) positivity ratios between January 2007 and April 2013. Methods: We recorded their blood group types, age and gender from the hospital data. 2430 females, 2827 males totally 5257 participants were included to our study. Results: 2330 (44.3%) persons were A blood group, 837 (15.9%) were B group, 1665 (31.7%) were 0 and 425 (%8.1) were AB group. Rh positivity ratio of our study group was 88%. Blood group frequency of Yozgat city is similar to other cities and the general population of our country, Turkey. Conclusion: Knowing the blood group is important for the blood recruitment in our region. J Clin Exp Invest 2014; 5 (2): 169-17

A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschutter- Tönz syndrome

Kohlschutter-Tonz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNA was extracted from the peripheral blood of our patient and her parents. To investigate the molecular diagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysis was performed for all of the family members for the validation and segregation of this mutation. Pub Med/Medline, Web of Science, and Google Scholar were also searched to find all of the published data on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of our patient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutation was also found to be heterozygous in her mother and father. The mutation caused alternative splicing of the ROGDI translation and resulted in a disruption of the ROGDI protein

Evaluation of the Knowledge of Family Physicians Regarding Crimean-Congo Haemorrhagic Fever in Kastamonu

Introduction: Crimean-Congo hemorrhagic fever (CCHF) is seen as a major public health problem in our country every year since 2002. Healthcare workers are among the groups at risk for the disease. In this study, we aimed to detect the general knowledge of family physicians in Kastamonu about CCHF. Materials and Methods: Family physicians working in the province of Kastamonu were contacted by email regarding completing a questionnaire about CCHF. Results: Family physicians attended this research in Kastamonu (n= 101). Their mean age was 33.9 ± 5.2 years. Seventy-two (71.3%) were male and 29 (28.7%) were female. The duration of working years of the physicians was 9.7 ± 5.3 (1-22). Seventy-four of the family physicians reported having CCHF-diagnosed patients. When the questionnaires were evaluated, it was seen that family physicians have sufficient knowledge about the transmission routes, risk groups and clinical findings of CCHF. However, their knowledge regarding the laboratory findings of CCHF was inadequate. Seventy of the family physicians stated that the risk of their jobs increases when they follow CCHF patients and that, given a choice, they would prefer not to examine patients with CCHF. Conclusion: In regions endemic for CCHF, patients first present to their family physicians. Thus, it is important that the family physicians have adequate knowledge about the diagnosis and follow-up of the disease. It is concluded that the knowledge of the family physicians in Kastamonu about the laboratory findings of CCHF should be improved

A Rare Cause of Gastrointestinal Bleeding: Crimean-Congo Haemorrhagic Fever Disease

Crimean-Congo Haemorrhagic Fever (CCHF) disease is a viral haemorrhagic fever syndrome present in Turkey since 2002 [1]. CCHF is transmitted by ticks and can be fatal. Thrombocytopenia and coagulopathy can develop and, because of severe bleeding in the gastrointestinal tract, the prognosis is poor. After 3-7 days of incubation, fever, headache, fatigue, generalised muscle pain, nausea, vomiting, and skin and mucosal haemorrhages can occur [2]. J Microbiol Infect Dis 2016;6(1): 38-3

Combination of the serological tests for the diagnosis of brucellosis in endemic areas

AMAÇ: Bu çalı?mada RBPT ve/veya STAT testleri negatif olan kli- nik ve epidemiyolojik olarak bruselloz ile uyumlu hastalarda RBPT, STAT ve ELISA kombinasyonunun tanıdaki etkinliğinin değerlendirilmesi amaçlandı. YÖNTEM: Klinik ve epidemiyolojik olarak brusellozla uyumlu 66 olgunun serum örneği RBPT, STAT ve ELISA ile test edildi. RBT pozitif ve negatif ki?ilerde STAT ve/veya ELISA test sonuçları seropozitiflik yö- nünden kar?ıla?tırıldı. Veriler SPSS 16.0 bilgisayar programına girildi. Sonuçların istatistiksel analizi için Fischer Exact testi yapıldı. p<0,05 anlamlılık düzeyi olarak kabul edildi. BULGULAR: Brusella antikorları yönünden RBPT ile test edilen serumların %45,5’i seropozitif, %54,5’ü seronegatif olarak bulundu. İki farklı testin (STAT ve/veya ELISA) pozitifliği birlikte değerlendirildiğinde seropozitiflik oranı RBPT pozitif grupta %73 iken RBPT negatif grupta ise %25 olarak saptandı. Testlerin kombinasyonu her iki grupta da seropozitiflik oranını anlamlı olarak artırdı (p<0,05). SONUÇ: RBPT, STAT ve ELISA kombinasyonunun özellikle bruselloz ön tanısı ve RBPT ve/veya STAT için negatif testleri olan hastalarda daha fazla test pozitifliğini sağlıyor gibi gözükmektedir.AIM: The aim of the study is to analyze the efficiency of combination of RBPT, STAT and ELISA tests on patients with brucellosis where the diagnosis is dependent on the compatible clinical and epidemiological findings with negative RBPT and/or STAT test results. METHODS: The serum samples of 66 patients having clinical and epidemiological findings compatible with brucellosis were analyzed using the combination of RBPT, STAT and ELISA tests. Both positive and negative samples were re-analyzed for seropositivity by using the STAT or ELISA tests together. The results were sta- tistically analyzed with the SPSS 16.0 computer program using the Fisher Exact test. The significance level was defined as p&lt; 0.05. RESULTS: Serum samples tested for brucellosis using the RBPT were found to be seropositive in 45.5% and seronegative in 54.5%. The seropositive group had a 73% seropositivity with the combination of STAT and ELISA tests. The seronegative group also had a 25% seropositivity with the combination of STAT and ELISA tests. Both groups’ seropositivity rate significantly increased after the combination of the tests (p&lt;0.05). CONCLUSION: It seems that the combination of RBPT, STAT and ELISA tests increases the rate of seropositivity in patients with negative RBPT and /or STAT tests, particularly with a pre–diagnosis of brucellosis