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.     

BAG1 over-expression in brain protects against stroke

The co-chaperone BAG1 binds and regulates 70 kDa heat shock proteins (Hsp70/Hsc70) and exhibits cytoprotective activity in cell culture models. Recently, we observed that BAG1 expression is induced during neuronal differentiation in the developing brain. However, the in vivo effects of BAG1 during development and after maturation of the central nervous system have never been examined. We generated transgenic mice over-expressing BAG1 in neurons. While brain development was essentially normal, cultured cortical neurons from transgenic animals exhibited resistance to glutamate-induced, apoptotic neuronal death. Moreover, in an in vivo stroke model involving transient middle cerebral artery occlusion, BAG1 transgenic mice demonstrated decreased mortality and substantially reduced infarct volumes compared to wild-type littermates. Interestingly, brain tissue from BAG1 transgenic mice contained higher levels of neuroprotective Hsp70/Hsc70 protein but not mRNA, suggesting a potential mechanism whereby BAG1 exerts its anti-apoptotic effects. In summary, BAG1 displays potent neuroprotective activity in vivo against stroke, and therefore represents an interesting target for developing new therapeutic strategies including gene therapy and small-molecule drugs for reducing brain injury during cerebral ischemia and neurodegenerative diseases.     

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.     

Assessment of changes in penile sensation by electrophysiological study after radical prostatectomy: A pilot study

Background:To evaluate the changes in penile sensation by electrophysiological tests in patients who underwent radical prostatectomy (RP) and to demonstrate the role of dorsal penile nerve injury in postoperative erectile dysfunction.Materials and methods:Twenty-six volunteer patients who were eligible for RP were included in the study. Preoperative penile sensory electromyography and the International Index of Erectile Function-5 (IIEF-5) questionnaire were done for each patient. Erectile function assessment and electrophysiological evaluation of penile sensation were repeated at postoperative 3rd and 6th months.Results:Postoperative IIEF-5 scores and electromyography values were significantly lower than preoperative findings (p < 0.05). The IIEF-5 scores in the nerve sparing-RP (NS-RP) group were significantly higher than the non-nerve sparing-RP (NNS-RP) group in the postoperative period. Nerve conduction velocity values in the NS-RP group were also higher than the NNS-RP group at the postoperative 3rd and 6th months. However, these changes were not statistically significant (p > 0.05).Conclusions:Patients who underwent RP have decreased penile sensation due to cavernous nerve damage and a possible dorsal penile nerve injury. The decrease of penile sensation may be associated with postoperative erectile dysfunction.     

Ossifying fibroma of the lateral orbital wall in an adult

Orbital ossifying fibroma is an extremely rare condition, especially in adults. This rare tumor mostly develops at the medial wall of the orbit. We report a histopathologically confirmed ossifying fibroma involving the lateral orbital wall in an adult. This case suggests that orbital ossifying fibroma should be considered in the differential diagnosis of orbital bony lesions in adults and that unusual presentations may occur.     

Comparison of remifentanil versus regional anaesthesia in children anaesthetised with isoflurane/nitrous oxide. International Remifentanil Paediatric Anaesthesia Study group

We compared the efficacy and safety of a remifentanil (0.25 microg x kg(-1) x min(-1)-based balanced anaesthetic technique with a bupivacaine-based regional anaesthetic technique in an open label, multicentre study in 271 ASA physical status 1 or 2 children aged 1-12 years. Subjects requiring major intra-abdominal, urological or orthopaedic surgery were randomly allocated to receive either intravenous remifentanil (group R; n = 185) or epidural bupivacaine (group B; n = 86) with isoflurane/nitrous oxide for their anaesthesia. The majority of children in both groups (85% in group R, 78% in group B) showed no defined response to skin incision, and although the mean increase in systolic blood pressure (+11 mm Hg) was significantly greater in group R than in group B, this change did not represent a serious haemodynamic disturbance. More children in group R (31%) required interventions to treat hypotension and/or bradycardia than those in group B (12%), but these were easily managed by administration of fluids or anticholinergic drugs. Adverse events, mainly nausea and/or vomiting, occurred in 45% of group R and 42% of group B (NS). The adverse event profile of remifentanil in this study was typical of a potent mu-opioid receptor agonist. Remifentanil was as effective as epidural or caudal block in providing analgesia and suppressing physiological responses to surgical stimuli in children aged between 1 and 12 years undergoing major abdominal, urological, or orthopaedic surgery under isoflurane/nitrous oxide anaesthesia.     

A foreign body (gossypiboma) in pregnancy: first report of a case

The technical name for a surgical sponge left in the body of a patient is inadvertent “gossypiboma.” The word is derived from the Latin word Gossypium for cotton and from the Kiswahili word boma for “place of concealment.” These retained sponges were first seen as “textilomas,” but were renamed “gossypiboma” in 1978. The first case was reported by Wilson in 1884. These are rarely are retrieved in the literature, because of legal complications. A higher incidence of retained laparotomy sponges has been reported in association with gynecological procedures. We report a case of gossypiboma in the 38th week of pregnancy that imitated an ovary neoplasm.