GJB2 gene mutations causing familial hereditary deafness in Turkey

Mutations in Connexin 26 (Cx26) play an important role in autosomal non-syndromic hereditary hearing loss. In this study, our objective was to find out the significance of Cx26 mutations in Turkish families who had hereditary deafness. Fourteen families who had at least two prelingually deaf children per family were included in the study. One affected child from each of the 14 families was selected for single-stranded conformational polymorphism SSCP analysis. Three PCR reactions were used for each subject to amplify the entire Cx26 coding region with overlap. PCR products were sequenced on an Applied Biosystems (ABI) model 3700 automated sequencer. Six of the 14 representative family members (42.9%) demonstrated shifts on SSCP and were subsequently sequenced for Exons 1 and 2 of GJB2 and were tested for the 432 kb upstream deletion. No mutations were found in Exon 1 and no 432 kb deletions were noted. Three different GJB2 mutations were found in Exon 2 of the probands, which were 35delG, 299-300delAT, and 487G > A (M163V). GJB2 mutations were detected in 21.4% of the families. Two patients were homozygous for 35delG and 299-300delAT mutations, and were given a diagnosis of DFNB1 deafness (14.3%). Two different polymorphisms, 457G > A (V153I) and 380G > AG (R127H) were also found. In conclusion, although GJB2 mutations were detected in 21.4% of the families tested, only 14.3% of subject representatives were homozygous and therefore deafness caused by Cx26 mutation segregated with DFNB1. Thus, contribution of GJB2 mutations appears less significant in familial deafness. This necessitates further assessment for the other known gene regions as well as a search for new genetic factors in familial type of genetic deafness.     

Histopathological and radiological investigations of the influence of botulinum toxin on the submandibular gland of the rat

The aim of the study was to correlate the sonographic features of Botox A injection in rat submandibular gland with the histopathological changes. Fifteen Wistar albino rats were randomly assigned to 2 groups. Group 1 (control group) consisted of 5 animals not given any substance. Group 2 was divided as “a” and “b” each consisting of 5 animals. A median cervical incision has been performed to the rats in group 2 and 2.5 U Botulinum toxin A reconstituted 0.1 ml physiologic saline was injected into the right gland. Sonograms were obtained before the application, at the first day of the Botox A application, in addition to group 2a on the 14th day, and on 28th day to group 2b. Gland size was lower in group 2a and 2b comparing to control group. The gland size of group 2b was lower than group 2a. There was no change in vascularization. There was no other histopathological change except lymphocytic infiltration in group 2. It was observed that Botox A injection does not have a direct effect on the cells in submandibular gland but it causes a homogenic shrinking in gland size without atrophy.     

Paclitaxel‐induced ST‐Segment Elevations

A 51‐year‐old woman presented with severe chest pain minutes after starting intravenous paclitaxel as a part of the systemic chemotherapy due to ovarian carcinoma. The electrocardiogram (ECG) revealed sinus rhythm with ST‐segment elevations in inferior and anterior leads. The ST‐segment elevations resolved immediately after sublingual nitroglycerine. Cardiac troponin T and CPK MB levels remained in the normal range at repeat measurements. It was presumed that in spite of standard premedication, paclitaxel had induced acute coronary syndrome with ST‐segment elevations in this patient. Copyright © 2009 Wiley Periodicals, Inc.     

Chronic Cigarette Smoking Affects Left and Right Ventricular Long-Axis Function in Healthy Young Subjects: A Doppler Myocardial Imaging Study

Objective: Cigarette smoking is one of the major risk factors for coronary artery disease. However, chronic smoking has additional cardiac adverse effects independent of coronary atherosclerosis. We assessed the possible effects of chronic smoking on left and right ventricular (LV, RV) long-axis function using Doppler myocardial imaging (DMI). Methods: Forty otherwise healthy smokers (mean age = 26 ± 3 years) and 40 age-matched nonsmoking controls enrolled. Standard echocardiography protocol was followed by DMI. Peak systolic (V_S), early (V_E) and late diastolic (V_A) velocities, peak systolic strain (S), and strain rate (SR) were measured from septal, lateral, and RV free walls. Results: The baseline characteristics of two groups were similar. There were significant differences regarding Doppler myocardial velocity, S, and SR indices. Septal V_E (P < 0.04), S (P < 0.0001) and SR (P < 0.02) were significantly reduced in smokers. For both lateral and RV free wall, V_S (P < 0.003, P < 0.002, respectively), V_E (P < 0.0001, P < 0.002, respectively), S (P < 0.0001 for both), and SR (P < 0.0001, P < 0.002, respectively) were significantly reduced in smokers. There were significant correlations between the amount of smoking and septal, lateral, and RV free wall S and SR. Conclusions: Chronic cigarette smoking causes alterations in long-axis systolic and diastolic functions of right and left ventricles in healthy young subjects. These changes can be accurately detected with Doppler myocardial velocity and SR imaging.     

The expression of MMP-2, MMP-7, MMP-9, and TIMP-1 in chronic rhinosinusitis and nasal polyposis

OBJECTIVES: To investigate the expression and clinical significance of MMP-2, MMP-7, MMP-9, and TIMP-1 in patients with nasal polyposis (NP) and chronic rhinosinusitis (CRS). STUDY DESIGN: Prospective study. SUBJECTS AND METHODS: This study involved 54 patients. There were three groups: nasal polyposis group, chronic rhinosinusitis group, and control group. Specimens were collected during endoscopic sinus surgery. Each sample was immunohistochemically examined. RESULTS: Expression of MMP-2 was found significantly increased in NP, whereas MMP-7 expression was found significantly increased in CRS (P < 0.001). TIMP-1 was significantly high in control group compared to CRS and NP (P < 0.001 and P = 0.002, respectively). CONCLUSIONS: Different regulation type of activation of MMPs has been found in these two diseases. If MMP-2 expression is intense in the mucosa, then this ends with polyp formation; if MMP-7 expression is intense, it ends with CRS or stays as CRS.     

Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease

Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before.     

Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report

Alkaptonuria is a hereditary disorder of phenylalanine and tyrosine, with an incidence of approximately 1/200,000 to 1/1,000,000. Ochronosis is the accumulation of homogentisic acid and its metabolites in connective tissues such as the tendons, cartilage, and skin. In the present case study, a 50-year-old male presented with a nontraumatic calcaneal avulsion without a previous diagnosis of ochronosis. To the best of our knowledge, little information has been reported of this pathology in the Achilles tendon and the surgical management.     

Incidence of congenital hemolytic anemias in young cholelithiasis patients

AIM: To clarify the incidence of congenital hemolytic anemias (CHA) in young cholelithiasis patients and to determine a possible screening test based on the results. METHODS: Young cholelithiasis patients (< 35 years) were invited to our outpatient clinic. Participants were asked for comorbidities and family history. The number of gallstones were recorded. Blood samples were obtained to perform a complete blood count, standard Wright-Giemsa staining, reticulocyte count, hemoglobin (Hb) electrophoresis, serum lactate dehydrogenase and bilirubin levels, and lipid profile. RESULTS: Of 3226 cholecystectomy patients, 199 were under 35 years, and 190 with no diagnosis of CHA were invited to take part in the study. Fifty three patients consented to the study. The median age was 29 years (range, 17-35 years), 5 were male and 48 were female. Twelve patients (22.6%) were diagnosed as thalassemia trait and/or ?ron-deficiency anemia. Hblevels were significantly lower (P = 0.046), and mean corpuscular volume (MCV) and hematocrit levels were slightly lower (P = 0.072 and 0.082, respectively) than normal. There was also a significantly lower number of gallstones with the diagnosis (P = 0.007). CONCLUSION: In endemic regions, for young cholelithiasis patients (age under 35) with 2-5 gallstones, the clinician/surgeon should pay attention to MCV and Hb levels as indicative of CHA.     

Assessment of the relationship between asymmetric dimethylarginine and severity of erectile dysfunction and coronary artery disease

The plasma concentration of asymmetrical dimethylarginine (ADMA), an inhibitor of nitric oxide synthase, has been linked to endothelial dysfunction. We investigated the relation between plasma ADMA concentration and severity of erectile dysfunction (ED) and coronary artery disease (CAD). We measured plasma levels of ADMA in 92 male patients. Patients were divided into three groups: group 1 (n = 41), patients with ED and without CAD; group 2 (n = 29), patients with stable CAD; group 3 (n = 22), control group (patients without CAD or ED). Erectile function was evaluated by the erectile function domain of the international index of erectile function (IIEF-EFD) a validated 15-item self-administered questionnaire. Erectile function is specifically addressed by six questions that form the so-called erectile function domain of the questionnaire. Each question is scored 0–5. ED is defined as any value <26. Patients with CAD who have stable angina pectoris were selected after coronary angiography. ADMA was analyzed by ELISA method. Group 1 had significantly higher concentrations of plasma ADMA than groups 2 and 3 (respectively, 0.75 ± 0.40 vs. 0.50 ± 0.30, P = 0.013; 0.75 ± 0.40 vs. 0.50 ± 0.25, P = 0.021). There was negative correlation between ADMA and IIEF-EFD score in all groups (n = 92) (r = −0.322, P = 0.002). In a multiple logistic regression analysis adjusting for age, hyperlipidemia, ADMA remained independent predictor for severe ED. Odds ratio for plasma ADMA was 14.151 (1.101–181.940; P = 0.042). First of all, this study provides that ADMA concentrations are significantly higher in patients who have ED when compared to patients with CAD and controls. Second, there was a negative correlation between ADMA and severity of ED. Elevating levels of circulating ADMA is an independent risk factor for severe of ED, and ADMA may be a link between CAD and ED.