Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo-auriculo-vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.     

Pain during sexual activity and ejaculation following hernia repair: A retrospective comparison of transabdominal preperitoneal versus Lichtenstein repair

Pain during sexual activity and ejaculation are the unspoken long-term complications of groin hernia repair. Laparoscopic surgical techniques are associated with decreased post-operative pain and earlier return to daily activities, but its effect on these complications is unclear. This study aims to investigate the effect of transabdominal preperitoneal repair (TAPP) on de-novo pain during sexual intercourse and ejaculation and to compare with open repair. For this reason, two groups were determined according to the surgical technique: the Lichtenstein repair and the TAPP groups and a questionnaire was sent to the patients a minimum of 6 months following the surgery. A total of 317 patients included, as 115 in TAPP and 202 in Lichtenstein repair group. No significant difference was observed concerning pre-operative pain during sexual activity and ejaculation in both groups (p = .75, p = .56). Following the surgery, the number of patients experiencing painful sexual activity was significantly higher in the Lichtenstein repair group compared to the TAPP group (19.3% vs. 11.3%, respectively, p = .03). The post-operative painful ejaculation rate was also significantly lower for the TAPP group (p = .04). The lower rates of post-operative dysejaculation and pain during sexual activity can be achieved with the advantage of laparoscopic surgery.     

Positron emission tomography in the clinical staging of patients with Stage I and II testicular germ cell tumors

OBJECTIVES: To evaluate the accuracy of fluorodeoxyglucose positron emission tomography (PET) compared with computed tomography (CT) staging in patients with Stage I and II testicular germ cell tumors (GCTs). METHODS: From January 1995 to July 1997, in 37 patients with clinical Stage (CS) I (n = 25) and CS II (n = 12) GCT (24 nonseminomas, 13 seminomas), PET and CT were compared in the initial staging. After PET, the patients with nonseminomatous GCT were staged surgically by retroperitoneal lymph node dissection and the patients with seminomatous GCT were followed up clinically. RESULTS: Correct staging by PET was achieved in 34 of 37 patients compared with correct CT staging in 29 of 37 patients. Of 10 metastatic lesions, 7 and 4 were detected by PET and CT, respectively. PET did not show false-positive signals. PET was unable to detect vital cancer with a maximal diameter less than 0.5 cm or teratoma at any size. CONCLUSIONS: PET was useful for detecting viable tumor in lesions that are visible on CT scan and, thus, it may omit false-positive CS II lesions. However, PET was not able to identify mature teratoma. In this study, PET did not improve the staging in patients with CS I tumor.     

Retinal tears associated with panuveitis and Behçet's disease

To report retinal tears formation in 3 eyes of 2 patients with active panuveitis and Beh?et's disease. We describe 2 patients that were diagnosed and treated for Beh?et's disease with active panuveitis. Retinal tears developed while the inflammation was active. The patients were treated with topical, oral steroids, and cyclosporine therapy for bilateral panuveitis. One patient presented with a retinal tear located at the periphery of the active retinal lesion. The other had multiple tears associated with active retinal lesions in both eyes. Argon laser photocoagulation was performed in both patients as soon as the tears were detected. Ocular inflammation was controlled with this therapy, and only a few mild flare-ups occurred. The patients have been followed up for 8 and 16 months, respectively. During this period no new retinal tears have developed. Although retinal tear formation is rarely associated with Beh?et's panuveitis, the clinician should be aware of this as a possible complication. When structural changes are present in the vitreous, detailed ophthalmoscopy is indicated to assess for retinal tears. If a tear is detected in a patient with panuveitis and Beh?et's disease, laser photocoagulation therapy should be performed immediately to prevent retinal detachment.     

The Efficacy of Fluoxetine in the Treatment of Premature Ejaculation: A Double-Blind Placebo Controlled Study

Purpose

The efficacy of the selective serotonin re-uptake inhibitor fluoxetine in the treatment of premature ejaculation was examined.

Materials and Methods

The study comprised 17 patients with premature ejaculation who presented to the urology clinic of our medical school. In this double-blind study the patients were randomized into treatment groups receiving 20 mg. fluoxetine daily for 1 week and 40 mg. daily afterward (group 1) or 1 capsule placebo daily for 1 week and 2 capsules daily afterward (group 2). The groups were evaluated according to the latent period of intravaginal ejaculation.

Results

The latent period of intravaginal ejaculation in group 1 was significantly longer than that in group 2. Nausea, headache and insomnia were reported side effects.

Conclusions

Fluoxetine may be regarded as a safe and effective alternative in the treatment of premature ejaculation.