BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients

To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. © 2000 Cancer Research Campaig

Video endoscopic truncal vagotomies without gastric drainage

The authors report 32 patients with chronic duodenal ulcer treated by bilateral truncal vagotomy (BTV) performed via laparoscopy or thoracoscopy. All cases were resistant to medical treatment and chosen with selective indication regarding endoscopic/radiologic and laboratory examination for absence of pyloric obstruction and presence of hyperacidity. Only one patient had partial pyloric stenosis preoperatively due to chronic duodenal ulcer. No drainage procedure was used after BTV, and an endoscopic pyloric balloon dilatation (PBD) was performed at the same time as vagotomy for 20 cases; 12 patients were followed without dilatation as a prospective trial. Semiliquid diet and promotility medication were started 24 h after surgery. All patients tolerated pure truncal vagotomy without any problem, except for two patients: one in whom open drainage procedure was required end one in whom PBD was performed. Basal acid output and peak acid output were measured the day before and 1 week after the operation. A mean decrease of hyperacidity was found: 70.6% for basal and 79.5% for peak acid output. Four patients suffered from moderate symptoms of diarrhea occurring intermittently and responded to medical treatment or recovered spontaneously. Median hospital stay was 4.8 days (range 3-10 days). Endoscopic control performed for 28 patients 2 and 6 months after the operation showed healing of the ulcer. But the patient who had partial pyloric stenosis and was operated on with BTV and PBD required an open drainage procedure (Jaboulay gastrojejunostomy) in spite of repeated PBD. There was no other gastropyloric outlet obstruction in this preliminary study with mean follow-up of 22 months (range 6-42 months)

Involvement of sympathetic reflex activity in patients with acute and chronic stroke: A comparison with functional motor capacity

Objective: To investigate sympathetic nervous system functions in patients with acute and chronic phase of stroke by measuring sympathetic skin reflex (SSR) and the relationship between sympathetic dysfunction and motor function capacity

Evaluation of autonomic nervous system functions in post-stroke patients

Objective: In this study, we aimed to investigate whether there is a sympathetic and parasympathetic system dysfunction in hemiplegic or hemiparetic patients after a cerebrovascular accident

Motor, sensory and functional recovery in patients with spinal cord lesions

The aim of this study is to evaluate the sensory, motor and functional improvement in patients with a Spinal Cord Lesion (SCL) by recording at admission, discharge and at 12 months after discharge. Fifty-five patients (29 with paraplegia and 26 with tetraplegia) admitted to our departments of Physical Medicine and Rehabilitation between December 1992-1995. Three patients were excluded as they did not give their consent. Each patient was evaluated at admission, before discharge and at 12 months after discharge. Motor status was evaluated by the motor score (MS), sensory status by the light touch score (LTS), and functional status by the Functional Independence Measure (FIM) score. Each patient was asked to complete a patient questionnaire which was developed according to the standards of the American Spinal Injury Association (ASIA) scale. Twelve patients (10 with paraplegia and two with tetraplegia) were evaluated at 12 months after discharge. Paired samples t-test was used for statistical analysis, The mean age of the patients group was 36.42 +/- 17.70 years, the mean duration of inpatient rehabilitation was 93.87 +/- 44.95 days. The SCL was due to trauma in 45 patients, 86.50% of the cases and was complete in nine patients (17.30%) and incomplete in (36.53%) with paraplegia. Six tetraplegic patients (11.53%) had complete and 18 (34.61%) incomplete lesions. The evaluation of MS, LTS and FIM scores at admission and discharge showed significant improvement in the MS and LTS in all of the patients with incomplete lesions (P < 0.001). FIM scores showed significant improvement only in those with complete or incomplete paraplegia (P < 0.05). At 12 months follow-up there was no significant change in the MS and the LTS whereas a significant change was noted in the FIM scores (P < 0.05) in 10 paraplegic patients. In summary, the results of this study indicate that rehabilitation was effective in our SCL series although the significant gain may also be attributed to the fact that 71.1% of the study group had incomplete neurological lesions

Are patients with lichen planus really prone to urolithiasis? Lichen planus and urolithiasis

WOS: 000380066200025PubMed: 27286123Purpose: to investigate whether patients with lichen planus (LP) are really prone to urolithiasis or not. Patients and Methods: We performed a prospective analysis of 40 patients diagnosed with lichen planus (LP) (group I), and 40 volunteers did not have LP before (group II). Participants were all checked for urolithiasis by radiological investigations. Blood samples were analyzed for biochemistry parameters including calcium and uric acid. 24-h urine samples were analyzed to investigate oxalate, citrate calcium, uric acid, magnesium, sodium and creatinine. Results: Men/women ratio and mean age were similar between group I and II (p> 0.05). A presence or history of urolithiasis was detected in 8 (20%) and 2 (% 5) patients in group I and II, respectively (p< 0.05). Hypocitraturia was the most common anomaly with 35% (n: 14) in group I. The rate of hypocitraturia in group II was 12.5% (n: 5) and the difference was statistically significantly different (p= 0.036). In group I, hyperuricosuria and hyperoxaluria followed with rates of 27.5% (n: 11) and 25% (n: 10), respectively. The rate of hyperuricosuria and hyperoxaluria were both 5% (n: 2) in group II and the differences were significant (p< 0.05). Hyperuricemia was another important finding in the patients with LP. It was detected in 13 (32.5%) patients in group I and in 1 (2.5%) participant in group II (p= 0.001). Conclusion: According to our results, metabolic disorders of urolithiasis were highly detected in the patients with LP. However, similar to the etiology of LP, the exact reasons for these metabolic abnormalities in LP remain a mystery