Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease

In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females. Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier females (mean age=33.5). The peripheral nerve conduction was more severely affected in males than females. Genomic DNA was isolated from peripheral white blood cells. Using SSCP technique (single strand conformation polymorphism analysis), abnormal patterns of migration were observed in 15 subjects: 6 of them were hemizygote males and 9 were heterozygote carrier females. We identified a mutation of the Cx32 gene, consisting of a guanine to adenine transition at position 271 (271G-A). The results suggested relations between degenerative processes and position of Cx32 mutations.     

Domestic violence: a tragedy behind the doors

OBJECTIVE: To explore the prevalence, type, frequency and causes of domestic marital violence among Turkish women in a socio-economically developed metropolitan setting. METHODS: A cross-sectional study was performed in 2003. All married women, aged 18 years and over, who were visiting any of the 50 primary health care units for different purposes were asked to participate in the study. Of 1427 asked, 1010 gave consent and completed face-to-face interviews. Multiple correspondence analysis, and logistic regression were used for statistical analyses. RESULTS: Domestic violence was statistically significantly associated with educational level. Illiterate women reported marital abuse 2.6 times more than university or more educated women. No statistically significant relationship was observed between domestic marital violence and women's age or occupation, marital duration or family income. The most frequently reported type of violence was physical, followed by psychological. Among women reporting domestic violence, those with the lowest educational level and income were experiencing all types of domestic violence frequently. CONCLUSION: Placing more importance on educating girls could be a key component of preventing domestic violence.     

Effects of exercise on gallbladder volume and motility in obese women

PURPOSE: Comparatively few prospective studies have investigated the relationship between physical activity and gallbladder motility, and the results are controversial. Exercise may affect gallbladder motility via neural or hormonal mechanisms. The purpose of this study was to evaluate the possible effects of aerobic exercise on gallbladder motility in a group of obese women without gallstones. PATIENTS AND METHODS: Twenty-three obese women (age 41.2+/-10.3 years, body mass index 40.7+/-6.7 kg/m(2)) were included in the study. Following an overnight fast, fasting and postprandial (15, 30, 45, 60, 75, 90, 120, and 150 minute) volumes and ejection fractions were evaluated with real-time ultrasonography before exercise. For all subjects, the exercise regimen consisted of daily 45-minute walking sessions at 60-80% of maximum heart rate for 4 weeks except weekends. Gallbladder volume and ejection fraction were again evaluated after exercise. RESULTS: Fasting and postprandial (15, 30, 45, 60, 75, 90, 120, and 150 minute) volumes were 38.6+/- 10.9, 32.8+/- 8.8, 27.6/- 8.1, 22.7+/- 8.5, 21.4+/- 7.2, 20.8+/- 7.0, 22.8+/- 7.3, 29.6 +/- 7.0, and 36.8+/- 6.2 cm(3) before the exercise period, respectively, and 40.8+/- 18.9, 29.9+/-11.2, 25.3+/- 9.2, 22.4+/-8.5, 19.6+/-7.8, 17.7+/- 6.8, 17.8+/- 7.3, 23.1+/-10.8, and 29.0+/-14.4 cm(3) after the exercise period, respectively. Postprandial (15, 30, 45, 60, 75, 90, 120, and 150 minute) ejection fractions were 13.5+/-15.9, 27.4+/-15.4, 39.5+/-20.0, 43.2+/-16.7, 44.3+/-17.3, 37.5 +/- 23.5, 23.5 +/-25.1, and 5.5+/- 21.6% before the exercise period, respectively, and 22.6+/- 20.1, 34.6+/-14.5, 42.0+/-13.6, 49.2+/-12.6, 53.1+/-14.1, 52.6+/-16.1, 43.6+/-17.0, and 29.2+/- 26.5% after exercise, respectively. After the exercise period, the 75, 90, 120, and 150 minute volumes were lower (p< 0.05, p< 0.05, p< 0.05, p< 0.01) and the 90, 120, and 150 minute ejection fractions were higher than before exercise (p< 0.05, p < 0.05, p< 0.01). CONCLUSIONS: Our study showed that exercise decreased late-phase postprandial gallbladder volume and increased late-phase postprandial gallbladder motility in these obese women.     

Microvascular blood flow of the optic nerve head and peripapillary retina in unilateral exfoliation syndrome

PURPOSE: To measure microvascular blood flow in patients with unilateral exfoliation syndrome (XFS) without glaucoma or ocular hypertension and to compare the values in the eyes with clinically detected exfoliation, their nonexfoliative fellow eyes of the same patients and control eyes. METHODS: Twenty-two patients with clinically detected unilateral XFS and 30 age-matched healthy subjects were included in this study. Group 1 consisted of 22 eyes with clinical XFS, and the nonexfoliative fellow eyes of the same patients formed Group 2. The control group (Group 3) comprised te randomly selected eyes of 30 age-matched healthy subjects. Ocular blood flow values (volume, flow and velocity) were recorded from the opti nerve head (ONH) and peripapillary retina (PPR) using the Heidelberg retinal flowmeter (HRF). The difference between the three groups were compared statistically. RESULTS: The mean values of blood flow obtained from the ONH and PPR in eyes with clinically detected exfoliation (Group 1) and their nonexfoliative fellow eyes (Group 2) were both significantly lower than the values for the control eyes (Group 3). The differences in ocular blood flow between the eyes with exfoliation and the nonexfoliative fellow eyes were not statistically significant [one-way analysis of variance (ANOVA), Dunnett's T3 test, p >/= 0.05]. CONCLUSION: These findings suggest that the eyes with clinically detected unilateral XFS were associated with reduced blood flow values in both the ONH and the PPR. The nonexfoliative fellow eyes also have lower blood flow values than the control eyes.     

Effects of 10alpha,25-dihydroxyvitamin D3 on doxorubicin-induced chromosomal aberrations in rat bone marrow cells

The present study was carried out to evaluate the effects of 1alpha,25-dihydroxyvitamin D3 (VD) on chromosomal aberrations induced by doxorubicin (DXR). Wistar rats were divided into eight experimental groups of five animals each. Control group animals were treated with i.p. distilled water. The animals in three VD groups were given only VD for 4, 6 or 8 weeks. In the DXR groups the animals were given only DXR. In the combination groups VD doses were given for 4, 6 or 8 weeks for each group and DXR was injected 24 h before sacrificing the rats. DXR (50 mg/100 g b.w.) was injected intraperitoneally and VD by gavage 3 microg/kg/day twice weekly. Animals treated with both VD and DXR showed a low frequency of chromosomal aberrations and abnormal metaphases when compared with animals treated with DXR alone (p < 0.0001). The numbers of both chromosomal aberrations and abnormal metaphases were similar in weeks 6 and 8 (p > 0.05) and lower than those in week 4 for the VD groups (p < 0.0001). Under the present experimental conditions, the efficiency of VD in protecting cells against DXR-induced chromosome damage was found to be dose dependent. The protective effects of VD on chromosome aberrations induced by DXR are discussed in the light of literature data.     

Cardiopulmonary and metabolic responses to maximum exercise and aerobic capacity in hemiplegic patients

This study evaluated cardiopulmonary and metabolic responses to maximum exercise and aerobic capacity in hemiplegic patients and clarified the relationship between the resulting data and motor disability. Twenty patients with stroke and fifteen healthy controls were included in the study. Cardiopulmonary and metabolic responses to maximum exercise were investigated with an electronically braked arm crank ergometer. Vital capacity, forced expiratory volume in 1 second, peak expiratory flow rate, forced vital capacity, maximum voluntary ventilation, peak power output, respiratory exchange ratio, and exercise time were reduced in stroke patients when compared with the controls. No relationship was found between these data and motor disability. The hemiplegic patients showed a significant respiratory dysfunction and reduced exercise tolerance. These findings suggest that a program of ventilatory and aerobic training should be considered early after stroke to avoid cardiorespiratory problems and deconditioning.     

The effect of elbow position on biceps tendon reflex

BACKGROUND: Testing of tendon (T) reflex is the basic method used in the diagnostic procedure of clinical neurology. Measurement of T reflexes precisely can be a valuable adjunct to clinical examination. Quantification of T reflexes may provide more accurate results. AIMS: To analyze the effect of elbow position on biceps T reflex. SETTINGS AND DESIGN: A self-controlled clinical trial of biceps T reflex testing at the Electrophysiology Unit of the Department of Physical Medicine and Rehabilitation. METHODS AND MATERIALS: Biceps T reflex was obtained utilizing a hand-held electronic reflex hammer in 50 extremities of 25 healthy volunteers and the effect of elbow position (at 90 degrees , 120 degrees and 150 degrees ) on reflex response was evaluated. STATISTICAL ANALYSIS: Repeated-measures analysis of variance by the General Linear Model and Pearson correlation test procedures. RESULTS: Onset latency was significantly shorter at 120 degrees of elbow position. The maximum amplitude value of biceps T reflex was obtained at 90 degrees of elbow position. Onset latency of the reflex correlated significantly with the height and arm length but not with age. CONCLUSIONS: The electrophysiological measurement of T reflexes is an easy and useful method in the quantification of reflexes, supplying more objective data. However, when performing T reflex studies, the position of the extremity should be taken into consideration to achieve more reliable results.     

Pituitary duplication associated with oral dermoid and corpus callosum hypogenesis

We report a case of pituitary duplication in a neonate girl whose magnetic resonance (MR) images showed unusual findings of hypogenesis of the corpus callosum and oral dermoid. Pituitary duplication is an extremely rare malformation, with only a few previously reported cases. It occurs most commonly in association with complicated midline and skull base anomalies. We present a case of this malformation with special emphasis on the hypogenesis of splenium of the corpus callosum and oral dermoid.     

Biweekly irinotecan plus bolus 5-fluorouracil and folinic acid in patients with advanced stage colorectal cancer

OBJECTIVE: In this study, we evaluated the efficacy and tolerability of biweekly irinotecan (CPT-11) plus 5-fluorouracil (5-FU) and folinic acid (FA) regimen (IFL) in patients with advanced stage colorectal cancer. METHODS: A total of 28 patients were examined. The median age was 51 years (range, 30-74 years). One treatment cycle consisted of CPT-11 180 mg/m(2) on days 1 and 15; 5-FU 425 mg/m(2) on days 1, 2, 15 and 16; and FA 20 mg/m(2) on days 1, 2, 15 and 16, every 4 weeks. A total of 119 cycles (median, 4.0 cycles) were administered. Of the 28 patients, 18 received the chemotherapy as first line treatment, seven received it as second line and three received it as third line. RESULTS: An overall objective response rate of 21.5% was achieved in the patient group. However, the overall response rate for the 18 patients receiving first line treatment was 27.7%. The median response duration was 10.5 months (range, 3-19 months). An additional 28.6% of the patients had stable disease for a median duration of 6.5 months (range, 3-8 months). Median time to disease progression was 4.5 months (range, 1-22+ months) and median overall survival time was 11+ months (95% confidence interval, 9-15 months). Toxicities were mild and manageable. CONCLUSIONS: We conclude that biweekly IFL is a practical and tolerable treatment option with a disease control rate of 50.1% in patients with advanced stage colorectal cancer.