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51.
Thalassemia is one of the most common hereditary disorders in the Mediterranean region. We report here the results of a premarital screening carried out in Ad?yaman in the southeastern region of Turkey, a region with a hitherto unknown incidence of β-thalassemia (β-thal). In order to detect β-thal carrier frequency and genotypes of carriers from the city of Ad?yaman, Turkey, both high performance liquid chromatography (HPLC) and the red blood cell counts of 1616 people who applied for premarital tests were analyzed. Blood cell counts were measured by a cell counter and the hemoglobin (Hb) fractionation was carried out by HPLC. The frequency of β-thal carriers in the city of Ad?yaman was 1.91% and the frequency of abnormal Hbs was 0.07%. We report 28 chromosomes of β-thal traits with 10 different mutations, including the first report of codon 17 (AAG>TAG) in Turkey and one individual who was heterozygous for Hb D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA]. This study was the first to be performed on the frequency and molecular pathology of β-thal mutations in Ad?yaman in the southeastern region of Turkey. We report that the prevalence of the thalassemia trait is similar in all regions of our country, but the prevalence of mutation heterogeneity varies from region to region. 相似文献
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Cevik A Kula S Olgunturk R Tunaoglu FS Oguz AD Pektas A Saylan B 《Echocardiography (Mount Kisco, N.Y.)》2012,29(7):840-848
Introduction and Objective: The present study aims to quantitatively evaluate the right ventricle (RV) function by means of transthoracic echocardiography in normal children and childhood congenital heart disease patients with pulmonary hypertension. Patients and Methods: This study was conducted in a cohort including 40 healthy children and 30 pediatric patients with pulmonary hypertension who were diagnosed under close surveillance at the study center between October 2009 and November 2010. Results: Statistically significant differences were found between the patient and control groups for the right ventricle myocardial performance index (RVMPI), the left ventricle myocardial performance index (LVMPI), the tricuspid valve systolic flow velocity (Ts), the ratio of systolic pulmonary artery pressure to the right ventricle outflow tract systolic flow velocity time integral (sPAP/RVOT VTI), and the ratio of systolic pulmonary artery pressure to right ventricle outflow tract systolic flow velocity time integral × heart rate (sPAP/[RVOT VTI×HR]). When the children were divided into three groups based on their pulmonary vascular resistance significant differences emerged that predicted an increasing severity of RV dysfunction. Significant differences were also observed for the RVMPI, the LVMPI, and the Ts as well as for echocardiographic pulmonary flow (Qp) and systemic flow (Qs). Discussion: The present study demonstrates that echocardiographic parameters can be used for the quantitative detection of RV dysfunction in childhood congenital heart disease patients with high pulmonary artery pressure (systolic, diastolic, and mean) or pulmonary vascular resistance. 相似文献
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The aim of the study was to determine the association between birthweight, maternal medical history and acne, hirsutism, and menstrual disorder symptoms in Turkish adolescent population. Self-administered questionnaires were distributed to all volunteer female students at 15 secondary schools. The subjects' body mass index, birthweight, age at menarche, pattern of menstrual cycle, and presence of acne or hirsutism problems were recorded. Maternal obstetric parameters, menstrual cycle, presence of acne or hirsutism at present and at adolescent period were also asked. The impact of birthweight and maternal history on acne, hirsutism, and menstrual disorder symptoms was evaluated. The results of the study showed that after exclusion of subjects born prematurely, total of 1,309 students filled the questionnaires properly and included in the study. Of these students, 174 had low birthweight (LBW) (<2,500?g), 925 had appropriate (2,500-4,000?g), and 210 had high birthweight (>4,000?g). LBW students had higher incidence of menstrual disorder and acne problems (P?=?0.032 and P?=?0.011, respectively). Maternal acne and hirsutism problems were significantly often in LBW group. Multivariate analysis showed that LBW was a predictor of acne, hirsutism, and menstrual disorder at adolescent period (P?=?0.001; P?=?0.01, and 0.02, respectively). In addition, maternal menstrual disorder was also a predictor of menstrual disorder (P?=?0.035). We concluded that LBW is a good predictor of acne, hirsutism, and menstrual disorder problems in Turkish adolescent population. 相似文献
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Salim Satar Deniz Satar Ufuk Ozgu Mete Jeffrey R. Suchard Metin Topal Mehmet Kaya 《Renal failure》2013,35(5):623-627
We investigated the ultrastructural effects of the organophosphate compound methamidophos and treatment with atropine and pralidoxime (2-PAM) on rat kidneys. Male Wistar albino rats were assigned to four groups. Group 1 received 30 mg/kg methamidophos, the LD50 for this compound in rats, via oral gavage. Group 2 received only physiologic saline. Group 3 rats received 30 mg/kg methamidophos and were treated with 2-PAM and atropine via intraperitoneal injection when cholinergic symptoms were noted. Group 4 served as a control, and received physiologic saline in equivalent volumes and routes to Group 3. Kidney tissues were prepared for electron microscopic studies. No ultrastructural changes were detected in Group 1 after acute poisoning with methamidophos and in Group 3 treated with antidotes after poisoning. Acute organophosphate poisoning and antidotal treatment in this model are not associated with histopathological changes in the rat kidney but the models with different organophosphate compounds, by administrating the different dosages, may be more illuminative in explaining the effects of these chemicals in kidney. 相似文献
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Fatma Ulger MD Deniz Karakaya MD Alparslan Senel MD Binnur Sarihasan MD 《The journal of spinal cord medicine》2013,36(3):343-348
Background/Objective: Patients with traumatic upper thoracic and cervical spinal cord injuries are at increased risk for the development of autonomic dysfunction, including thermodysregulation. Thermoregulation is identified as an autonomic function, although the exact mechanisms of thermodysregulation have not been completely recognized. Quad fever is a hyperthermic thermoregulatory disorder that occurs in people with acute cervical and upper thoracic spinal cord injuries. First described in 1982, it has not been widely discussed in the literature.Methods: Case reports of 5 patients with cervical spinal cord injury (SCI).Results: Five of 18 patients (28%) with acute cervical SCI who were admitted during a 1-year period had fatal complications caused by persistent hyperthermia of unknown origin.Conclusions: Patients with acute traumatic cervical and upper thoracic SCI are at risk for thermoregulatory dysfunction. Changes in the hypothalamic axis may be implicated, especially in the light of modification in hypothalamic afferent nerves, but this hypothesis has not yet been explored. Thermodysregulation may be an early sign of autonomic dysfunction. A comprehensive guideline is needed for the management of elevated body temperature in critically ill patients with cervical SCI, because this condition may be fatal. 相似文献
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Alexis Donneys Daniela M. Weiss Sagar S. Deshpande Salman Ahsan Catherine N. Tchanque-Fossuo Deniz Sarhaddi Benjamin Levi Steven A. Goldstein Steven R. Buchman 《BONE》2013,52(1):318-325
BackgroundMedically based efforts and alternative treatment strategies to prevent or remediate the corrosive effects of radiotherapy on pathologic fracture healing have failed to produce clear and convincing evidence of success. Establishing an effective pharmacologic option to prevent or treat the development of non-unions in this setting could have immense therapeutic potential. Experimental studies have shown that deferoxamine (DFO), an iron-chelating agent, bolsters vascularity and subsequently enhances normal fracture healing when injected locally into a fracture callus in long bone animal models. Since radiotherapy is known to impede angiogenesis, we hypothesized that the pharmacologic addition of DFO would serve to mitigate the effects of radiotherapy on new vessel formation in vitro and in vivo.Materials and MethodsIn vitro investigation of angiogenesis was conducted utilizing HUVEC cells in Matrigel. Endothelial tubule formation assays were divided into four groups: Control, Radiated, Radiated + Low-Dose DFO and Radiated + High-Dose DFO. Tubule formation was quantified microscopically and video recorded for the four groups simultaneously during the experiment. In vivo, three groups of Sprague–Dawley rats underwent external fixator placement and fracture osteotomy of the left mandible. Two groups received pre-operative fractionated radiotherapy, and one of these groups was treated with DFO after fracture repair. After 40 days, the animals were perfused and imaged with micro-CT to calculate vascular radiomorphometrics.ResultsIn vitro, endothelial tubule formation assays demonstrated that DFO mitigated the deleterious effects of radiation on angiogenesis. Further, high-dose DFO cultures appeared to organize within 2 h of incubation and achieved a robust network that was visibly superior to all other experimental groups in an accelerated fashion. In vivo, animals subjected to a human equivalent dose of radiotherapy (HEDR) and left mandibular fracture demonstrated quantifiably diminished μCT metrics of vascular density, as well as a 75% incidence of associated non-unions. The addition of DFO in this setting markedly improved vascularity as demonstrated with 3D angiographic modeling. In addition, we observed an increased incidence of bony unions in the DFO treated group when compared to radiated fractures without treatment (67% vs. 25% respectively).ConclusionOur data suggest that selectively targeting angiogenesis with localized DFO injections is sufficient to remediate the associated severe vascular diminution resulting from a HEDR. Perhaps the most consequential and clinically relevant finding was the ability to reduce the incidence of non-unions in a model where fracture healing was not routinely observed. 相似文献