Genome-Wide Association of Implantable Cardioverter-Defibrillator Activation With Life-Threatening Arrhythmias

OBJECTIVES: To identify genetic factors that would be predictive of individuals who require an implantable cardioverter-defibrillator (ICD), we conducted a genome-wide association study among individuals with an ICD who experienced a life-threatening arrhythmia (LTA; cases) vs. those who did not over at least a 3-year period (controls). BACKGROUND: Most individuals that receive implantable cardioverter-defibrillators never experience a life-threatening arrhythmia. Genetic factors may help identify who is most at risk. METHODS: Patients with an ICD and extended follow-up were recruited from 34 clinical sites with the goal of oversampling those who had experienced LTA, with a cumulative 607 cases and 297 controls included in the analysis. A total of 1,006 Caucasian patients were enrolled during a time period of 13 months. Arrhythmia status of 904 patients could be confirmed and their genomic data were included in the analysis. In this cohort, there were 704 males, 200 females, and the average age was 73.3 years. We genotyped DNA samples using the Illumina Human660 W Genotyping BeadChip and tested for association between genotype at common variants and the phenotype of having an LTA. RESULTS AND CONCLUSIONS: We did not find any associations reaching genome-wide significance, with the strongest association at chromosome 13, rs11856574 at P = 5×10⁻⁶. Loci previously implicated in phenotypes such as QT interval (measure of the time between the start of the Q wave and the end of the T wave as measured by electrocardiogram) were not found to be significantly associated with having an LTA. Although powered to detect such associations, we did not find common genetic variants of large effect associated with having a LTA in those of European descent. This indicates that common gene variants cannot be used at this time to guide ICD risk-stratification. TRIAL REGISTRATION: ClinicalTrials.gov NCT00664807

Synthesis and swelling behavior analysis of poly(acrylamidoxime-co-2-acrylamido-2-methylpropane sulfonic acid) hydrogels

An investigation of water uptake behavior of a novel poly(acrylonitrile-co-2-acrylamido-2-methylpropane sulfonic acid-co-N,N'-methylenebisacrylamide) hydrogel system was carried out with two major objectives. First, the study was initiated to understand the effect of various synthesis conditions, i.e., reaction temperature, initiator content, crosslinker content and pH,on the water absorbency of resulting hydrogels. The second reason was to evaluate these hydrogels after reaction with hydroxylamine hydrochloride to convert the C Xi N (nitrile) groups to -C=N-OH (amidoxime) groups. The optimum amidoximation conditions was determined. The structure of the hydrogels, before and after amidoximation, was analyzed with FTIR and thermal methods. The optimum synthesis temperature, initiator concentration and crosslinker content were found to be 55 degrees C, 1.5 (wt.%) and 1.5 (wt.%), respectively. The equilibrium water uptake increases with an increase in initiator (K2S2O8) concentration and crosslinker (BAAm) content up to 1.5% and then it begins to decrease with a further increase in K2S2O8 and BAAm content. The gel undergoes a drastic volume change in the pH range 5, thus indicating the dissociation of NH groups of acrylamidoxime. The pH increased at 7, and this pH shift may be attributed not only to the acidic region, but also the basic region. A drastic volume change is also observed at pH:10, which may be due to the dissociation of the AMPS SO3H groups. The swelling ratio of the hydrogel sample in sea water, tap water and distilled water are collected. According to the results, the maximum swelling ratio was observed in the distilled water. Finally, the nitrile groups can be easly converted into amidoxime groups via treatment with a solution of hydroxylamine. The swelling behavior of hydrogels are in good agreement, before and after amidoximation

Genel tıbbi duruma ikincil cinsel kimlik bozukluğu ile başvuran yas olgusu

D.G., 59 yaşında, emekli, evli, 3 çocuk babası erkek hasta. 1996 yılından önce psikopatoloji tarif etmeyen hastada aynı yıl geçirdiği miyokard enfarktüsünden sonra, 1997 yılında geçirdiği bypass cerrahisi sonrası sertleşme (ereksiyon) problemi başlamıştır. Bir süre sonra ise hastada, kullandığı spironolakton ve digoksin'in yan etkisi olarak jinekomasti gelişmiştir. Vücudundaki bu değişikliklere uyum sağlamakta güçlük çeken hasta önceleri uzun bir depresyon dönemi tarif ederken, sonrasında kendisinde değişiklikler fark etmeye, kadın gibi hissetmeye başlamıştır. Kliniğimize başvurduğu son aşamada, kadın olarak hayatına devam etme kararı aldığını söyleyen ve bu konu ile ilgili gerekli operasyonları yaptırarak ?pembe kimlik? almak istediğini belirten hasta tek isteğinin kadınlığı öğrenmek olduğunu belirtmektedir. Tıbbi literatürde genel tıbbi durum sonrası cinsel kimlik bozukluğu olarak nitelenebilecek bir klinik tablo ile karşımıza çıkmış ilk olgudur. Olgu yas kavramı zemininde tartışılmıştır

A Mourning Case That Referred with Sexual Identity Disorder Secondary to a General Medical Condition

Soykan, Atilla/0000-0003-3934-1091WOS: 000266736200011PubMed: 19504370D.G. was a 59-year-old male patient who was retired and married, and had 3 children. He reported no psychopathology prior to a myocardial infarction he had in 1996. Following bypass surgery he had erectile dysfunction. Subsequently, gynecomastia developed as a side effect of spironolactone and digoxin treatment. After a long period of depression he claimed was caused by non-adaptation to the changes in his body, he realized differences about himself; he began to feel like a woman. Upon referral to our clinic, he said that he had decided to continue his life as a woman and wished to get pink colored (as opposed to blue for male) identity card issued by the Turkish Government for female Turkish citizens. He reported that his wish was to learn how to become a woman. This is the first case in the medical literature defined as sexual identity disorder secondary to a general medical condition. The case is discussed in terms of pathological grief reaction

Locally applied molgramostim improves wound healing at colonic anastomoses in rats after ligation of the common bile duct

Background: Several systemic factors, including jaundice, long-term corticosteroid therapy, diabetes and malnutrition, increase the risk of anastomotic dehiscence. The local application of molgramostim (recombinant human granulocyte-macrophage colony stimulating factor) has been reported to improve impaired dermal wound healing. Since jaundice, one of the systemic risk factors for anastomotic dehiscence, causes significant impairment of anastomotic healing, we hypothesized that locally injected molgramostim could improve the healing of bowel anastomoses in bile-duct-ligated rats used as an experimental model for jaundice. Methods: Eighty-six Sprague-Dawley rats were randomized into 4 groups of 20-22 animals each as follows: group 1 - colonic anastomosis only; group 2 - laparotomy followed 7 days later by colonic anastomosis; group 3 - common-bile-duct ligation (CBDL) followed 7 days later by colonic anastomosis (control group); group 4 - CBDL followed by colonic anastomosis with locally applied molgramostim. Laparotomy was performed under anesthesia in group 2 rats. In groups 3 and 4, laparotomy was followed by ligation and dissection of the common bile duct. After 7 days, colonic anastomosis was performed; in group 4 rats, molgramostim (50 μg) was injected into the perianastomotic area. On postoperative day 3, rats were killed, and the bursting pressures and hydroxy-proline levels measured. Two rats from each group were selected for histopathological examination. Results: The mean bursting pressure in group 4 was significantly higher than that in group 3 (37.8 v. 30.5 mm Hg [p < 0.01]). The mean hydroxyproline level in group 3 was significantly lower than that of the other groups (2.7 v. 3.1-3.5 mg/g tissue [p < 0.01]). On histopathological examination, specimens from group 4 rats showed an increased mononuclear cell population and a smaller gap on the anastomotic line than, those from group 3. Conclusion: The local injection of molgramostim improves healing of the impaired wound in rats subjected to CBDL. © 2005 CMA Media Inc

Hemodiyaliz hastaları ve eşlerinde cinsel işlev: Türkiye’den prospektif bir çalışmanın sonuçları

Amaç: Bu çalışma hemodiyaliz hastaları ve eşlerinde cinsel işlevi değerlendirmeyi amaçlamaktadır. Yöntemler: Çalışma, Ankara Üniversitesi Tıp Fakültesi Konsültasyon Liyezon Psikiyatrisi Bilim Dalı tarafından Ankara Üniversitesi Tıp Fakültesi Nefroloji Anabilim Dalı Hemodiyaliz Ünitesi ve Ankara’da bulunan 3 özel diyaliz merkezinde gerçekleştirilmiştir. Örneklem 45 hemodiyaliz hastası ve eşlerinden oluşmaktadır. Çalışmaya katılan bütün çiftler sosyo demografik veri formu ve Arizona Cinsel Yaşantılar Ölçeğini (ACYÖ) doldurmuşlardır. Daha sonra çiftler bir psikiyatrist tarafından Hamilton Depresyon Ölçeği (HDÖ), Hamilton Anksiyete Ölçeği (HAÖ) ve Mini Mental Durum Değerlendirme (MMDE) testi uygulanarak değerlendirilmişlerdir. Bulgular: Çalışmaya 45 hemodiyaliz hastası ve eşi katılmıştır. Hastaların ortalama yaşı 47,15 ± 10,25 yıl, eşlerinin ortalama yaşı ise 45,2 ± 10,34 yıldır. DSM Bozuklukları için Yapılandırılmış Klinik Görüşme-Klinik Versiyon ile 45 çiftten 30 hasta ve 13 eş psikiyatrik bir hastalık için tanı kriterlerini karşılamışlardır (P = 0,001), en sık konulan tanı ise depresyondur. ACYÖ maddelerinin karşılaştırılmasında (istek, uyarılma, sertleşme/vajinal kayganlık, orgazm yaşama, memnuniyet) hastalar ve eşler arasında uyarılma, sertleşme/kayganlık, mennuniyet maddelerinde ve toplam ACYÖ puanında hastalar aleyhine fark olduğu görülmüştür (P < 0,05). Sonuç: Cinsel işlev bozuklukları en sık erkek hemodiyaliz hastalarında görülmektedir, eşlerde ise, cinsel işlev bozuklukları daha sık kadınlardadır. Bu konunun gözden kaçmaması için, hemodiyaliz hastaları ve eşlerinin cinsel açıdan değerlendirilmesinin günlük rutin tanı-tedavi pratiğine girmesini ve nefroloji ve psikiyatri tedavi ekiplerinin işbirliği içerisinde çalışmasını önermekteyiz.Aims: This study aimed to evaluate sexual functioning among hemodialysis patients and thei spouses. Materials and Methods: The study was conducted by the Consultation Liaison Psychiatr Division at the Hemodialysis Unit of the Department of Nephrology, Ankara University, Schoo of Medicine as well as 3 private dialysis centers in Ankara. The study group consisted of 4 hemodialysis patients and their spouses. All couples filled out a socio-demographic an occupational data form and a validated Turkish version of the Arizona Sexual Experiences Scale The couples were also evaluated by a psychiatrist using the Hamilton Depression Scale, Hamilto Anxiety Scale, and Mini Mental State Examination. Results: Forty-five patients undergoing hemodialysis treatment and their spouses participated i the study. The mean age of the patients was 47.15 &plusmn; 10.25 years and the mean age of the spouse was 45.20 &plusmn; 10.34 years. The Structured Clinical Interview for DSM Disorders-Clinical Versio revealed that among 45 couples, 30 patients and 13 spouses fulfilled the diagnostic criteria for psychiatric diagnosis (P = 0.001), commonly for depression. Comparisons of the Arizona Sexua Experiences Scale items (drive, arousal, penile erection/vaginal lubrication, ability to reac orgasm, and satisfaction with orgasm) revealed higher scores for arousal, erection/lubrication satisfaction subscales, and the total Arizona Sexual Experiences Scale (P &lt; 0.05) in the patien group than in the spouse group, and sexual problems were significantly more common in femal spouses (P &lt; 0.05). Conclusions: Sexual function disorders were mostly seen in male hemodialysis patients, but in th spouse group, the incidence of sexual disorders was higher in female spouses. We suggest tha sexual assessment of these patients should be integrated into routine examination, an cooperation of nephrology and psychiatric team is essential for the therapy of hemodialysi patients and their spouses

Breast Cancer and Cyclin D1 Gene Polymorphism in Turkish Women

Background: Cyclin D1 protein plays an important part in regulating the progress of the cell during the G, phase of the cell cycle. It has been suggested that G870A polymorphism at the exon4/intron4 splicing region of the CCND1 gene may play a role in tumorigenesis and invasiveness. Patients and Methods: A case-control study was performed to test the association between G870A polymorphisms in the CCND1 gene and breast cancer risk and cancer progression. For this purpose, 38 patients with breast cancer and 64 healthy women controls were included in the study. The CCND1 G870A polymorphisms in our study groups were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using peripheral blood samples. Results: A significant difference was found in the distribution of the GG, AG and AA genotypes between the patient group and the control group (p=0.021). A lower risk (odds ratio 0.435, 95% confidence interval 0.223-0.846) was found to be associated with heterozygote AG individuals when compared with homozygote allele carriers in breast cancer. The cyclin D1 A870G genotype was associated with capsular invasion (p=0.02). Conclusion: The risk of breast cancer development and prognosis may be associated with genetic variation in the CCND1 genotype, which may be used as a biomarker for further studies

Esomeprazole in acute and maintenance treatment of reflux oesophagitis: A multicentre prospective study

Introduction: The aim of this study was to assess the efficacy and safety of esomeprazole 40 mg once daily (q.d.) in healing reflux oesophagitis at 4 and 8 weeks, and the efficacy of esomeprazole 20 mg q.d. for 12 weeks in the maintenance of remission. Methods: A total of 235 patients with endoscopically proven reflux oesophagitis were enrolled in this study, which consisted of two phases (healing and maintenance therapy). Patients who showed complete endoscopic and symptomatic healing at the end of 4 or 8 weeks were switched to maintenance treatment with esomeprazole 20 mg q.d. for 12 weeks. The primary efficacy endpoint was healing of reflux oesophagitis at week 8. Secondary assessments included the proportion of patients with symptomatic relapse in the maintenance phase. Results: At the end of week 8, 88% (95% life-table confidence intervals [CI]: 84%, 92%) of patients were healed endoscopically and 90.6% of the patients were asymptomatic. Patient age, gender and Helicobacter pylori status had no effect on the efficacy of treatment. During the 12-week maintenance treatment phase, symptomatic relapse ratios were 0.5%, 2.2%, and 0%, for the first, second, and third 4-week periods, respectively. The proportions of patients satisfied with treatment were 95% and 99.4% at the end of acute and maintenance treatment, respectively. The most common adverse effects were headache, upper respiratory tract infection and abdominal pain. Conclusions: Esomeprazole is effective in the healing of reflux oesophagitis, the resolution of heartburn, and in maintaining symptomatic remission. The effectiveness of esomeprazole in patients with gastroesophageal reflux disease is not affected by the presence of H. pylori. © Springer Healthcare Communications 2008