Lateralized cognitive dysfunction in patients with systemic lupus erythematosus

This study was designed to determine whether there is a lateralized pattern of cognitive dysfunction in patients with systemic lupus erythematosus (SLE). Fifty right-handed patients with SLE, but no history of cerebrovascular disease participated in the study. Thirty right-handed healthy subjects matched for age and education served as controls. SLE and healthy control subjects underwent a three-hour neuropsychological evaluation designed to measure attention, memory, visual spatial skills, verbal skills reasoning, psychomotor speed, and motor function. A cognitive disability index was created to identify cognitive impairment. Percentile tables based on the performance of all subjects were constructed for 20 component scores. Any subject with five or more component scores below the 25th percentile was designated impaired. Using this criterion, cognitive impairment was identified in 50% of patients with SLE and 20% of healthy controls. Patients with SLE were impaired on measures of psychomotor speed/fluency, verbal speed/fluency and verbal memory. This pattern of performance on neuropsycholgical testing was consistent with left hemisphere brain dysfunction. The observed deficits were not clearly attributable to vascular lesions and suggest immune-mediated effects on specific brain regions in a subgroup of patients with SLE.     

Neurogenic bladder dysfunction after sacrococcygeal teratoma resection

PURPOSE: SCT treatment in newborns consists of surgery and selective chemotherapy. Few reports document urological sequelae using this approach. This review focuses on the urological and neurourological findings following SCT treatment in the newborn period. MATERIALS AND METHODS: We reviewed the records of all infants with SCT resected in early infancy who underwent urodynamic evaluation for bladder dysfunction between 1986 and 2004. The radiological, neurological and urodynamic findings, and postoperative incontinence management were analyzed. RESULTS: We analyzed UDS of 14 patients who presented with urinary infection or incomplete bladder emptying after SCT resection. At the time of UDS an abnormal neurological examination was noted in 5 patients (36%). Detrusor overactivity was seen in 8 patients, underactivity in 2 and normal activity in 4. Abnormal urethral sphincter EMG potentials were observed in 7 of 13 patients (54%). Five of 13 patients (38%) had sphincter dyssynergia during voiding. Consequently, CIC was needed in 11 of the 14 patients (79%) to empty the bladder, of whom 5 also required anticholinergics to improve detrusor compliance and dryness. Only 3 patients voided spontaneously with normal bladder and sphincter function, of whom 2 were toilet trained. Hydronephrosis was seen in 6 patients and reflux was noted in 7 (including 5 of 6 with hydronephrosis). Antireflux surgery was performed in 6 patients, all of whom had up to grade 4 reflux due to recurrent urinary tract infection. One girl with grade 2 reflux had spontaneous resolution. CONCLUSIONS: SCT and its treatment can produce neurourological dysfunction of the lower urinary tract with high grade reflux, and abnormal bladder and urethral function. Complete assessment, including urodynamic studies, is imperative preoperatively and postoperatively. Constant vigilance is required to maintain as near normal bladder function as possible and to prevent upper urinary tract injury.     

An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma

Oesophageal cancer is one of the ten leading causes of cancer mortality worldwide. Earlier loss of heterozygosity (or allelic imbalance) studies have implicated regions on chromosomes 3p, 5q, 9p, 13q, 17p, 17q, and 18q in the development of sporadic oesophageal cancer and recent data have linked the familial tylosis with oesophageal cancer (TOC) gene-containing region on chromosome 17q25 with this cancer. We have studied allelic imbalance (AI) at microsatellite markers both closely linked to and distant from the TOC gene locus in 60 sporadic squamous cell oesophageal cancers from Iran and have investigated the most likely candidate gene by mutation analysis in these tumours. Forty-four out of these 60 samples (73%) show allelic imbalance at one or more loci within or adjacent to the TOC minimal region, while the highest incidence of AI was observed at the D17S2244 and D17S2246 loci (almost 70% AI in informative cases), correlating with the TOC minimal region. Analysis of the coding regions of a candidate gene in these tumours failed to show an equivalently high incidence of mutation, although two mutations and one polymorphism were observed. These data support and extend previous observations that the TOC region of chromosome 17q25 may be involved in the aetiology of the sporadic form of oesophageal cancer from a number of different geographical populations and suggest that the causative gene may be epigenetically silenced rather than mutated.