Sneddon's syndrome: clinical and laboratory analysis of 10 cases

Sneddon's syndrome is characterized by livedo reticularis and cerebrovascular lesions. We report the cases of women (mean age, 36.2 +/- 8.1 years) diagnosed with Sneddon's syndrome based on the presence of livedo reticularis and characteristic cerebrovascular findings. Seven of these patients had cerebral infarcts on cranial computed tomography scan. Antiphospholipid antibodies were positive in 6 of these cases. Three cases had abnormal levels of antithrombin III. Analyses of chromosome 6 revealed no abnormalities. In 3 of the cases, investigation of the pedigrees revealed autosomal dominant traits. Two cases had epilepsy, and 3 had migraine. One case with migraine also had myasthenia gravis. In addition, we detected inferior altudinal hemianopia in 2 cases, cognitive functional disorder in 3 and depression in 2. Based on these findings, the entire vascular, haematologic, neurologic, and dermatologic systems should be evaluated in patients diagnosed with Sneddon's syndrome.     

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.     

Antioxidant capacity and nitric oxide in patients with hepatic cirrhosis

This study investigated the relationship between the antioxidant capacity of blood and the serum level of nitric oxide (NO) in patients with hepatic cirrhosis. The study included 20 patients with compensated cirrhosis (group I), 30 with decompensated cirrhosis (group II), and 30 healthy controls (group III). The serum levels of NO, albumin, bilirubin, and uric acid, and the erythrocyte activity of superoxide dismutase (SOD) were measured in all groups. The mean erythrocyte SOD activity (5.94 +/- 3.21 U/mg protein) and serum NO level (25.19 +/- 8.15 micromol/L) in group I were similar to those of controls (6.86 +/- 2.47 U/mg protein and 21.67 +/- 6.51 micromol/L, respectively). However, erythrocyte SOD activity in group II was significantly lower than in groups I and III and mean serum NO level was significantly higher in group II than in groups I and III. In regard to non-enzymatic antioxidants, the mean serum albumin level was lower and the mean serum total bilirubin level was higher in group II than in groups I and III. As expected, group I had higher mean serum total bilirubin level than the control group. Correlation analysis showed that erythrocyte SOD activity in cirrhotic patients was negatively correlated with their serum levels of NO. These results suggest that disturbances of antioxidative mechanisms may diminish hepatic resistance to oxidative stress, thereby contributing to the development of fibrogenesis.     

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.     

Ophthalmic findings in GAPO syndrome

BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from Turkey and have been presented by Sayli and Gül. The purpose of our study is to document the cases from Turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. Optic atrophy was present in 1 of our cases and in 5 previous cases. Glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: Optic atrophy is not a constant finding in GAPO syndrome. Glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.