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.     

Right ventricular free wall perforation during pericardiocentesis,and an inappropriate device selection for percutaneous treatment

Right ventricular (RV) perforation is a rare but life‐threatening complication of pericardiocentesis and is usually treated surgically. We presented a case of RV free wall perforation, which occurred during pericardiocentesis and tried to be closed percutaneously with the Amplatzer vascular plug‐III (AVP‐III) device. The occluder device sealed the perforation, but it was in an insecure position; therefore, the patient underwent surgical repair. As an AVP‐III device, with a middle disk thicker than the RV myocardium, it may cause the RV myocardium to stretch outwards, so it should not be used for the treatment of RV perforation by the transcatheter way.     

Determination of serum bile acids routinely may prevent delay in diagnosis of total parenteral nutrition-induced cholestasis

BACKGROUND/PURPOSE: Early diagnosis of development of cholestasis is a current major problem for patients receiving total parenteral nutrition (TPN). Conventional tests for hepatic function such as serum transaminases and alkaline phosphatase do not often reflect simultaneously histopathologic changes of the liver. The aim of this study is to find out the relationships between conventional hepatic function tests, total serum bile acid concentrations (TSBA), and the histopathologic changes in the liver during TPN administration in rats. METHODS: Forty Albino rats were divided into four experimental groups, each consisting of 10 rats, as follows: control group (C), 0.9% saline for 14 days; T7 group, TPN for 7 days; T14 group, TPN for 14 days; T7O7 group, TPN for 7 days and then 0.9% saline for the next 7 days. All solutions were administered by infusion through intraperitoneal catheter in two equal doses. During the experiment, rats also maintained on rat chow and water ad libitum. Levels of serum glutamic oxaloacetic transaminase, glutamic pyruvic transaminase, alkaline phosphatase, and TSBA were measured. Liver was evaluated histopathologically by light microscope and then Morphological Cholestasis Index (MCI) was calculated. RESULTS: Cholestasis was present in all experimental groups except control. Levels of transaminases and alkaline phosphatase were not correlated with the histopathologic changes (P > .05), but TSBA concentrations were correlated with MCI in all groups (P< .01). TSBA concentrations and MCI in all groups also were correlated with the duration of exposure with TPN (P< .01). CONCLUSIONS: Measurement of TSBA seems to be more sensitive in early diagnosis of TPN-induced cholestasis. Therefore, periodical determination of TSBA during TPN administration can be done routinely.     

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.