Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population

Maternal folic acid intake in the periconceptional period is strongly related to reduction in recurrence and occurrence of birth defects involving the neural tube. Among the single nucleotide polymorphisms (SNPs) influencing the folate metabolism, the methylenetetrahydrofolate reductase (MTHFR) gene has been the one most exclusively studied. Many studies have reported significant association between MTHFR 677C>T and increased risk of neural tube defects (NTDs). Our previous study did not support this observation. The present study aimed to determine the prevalence of 1298A>C polymorphism in addition to 677C>T in the same Turkish population as a risk factor for NTDs. We genotyped case (95 offspring with NTDs, 80 mothers, 72 fathers) and control (93 healthy children) populations for MTHFR 677C>T and MTHFR 1298 A>C polymorphisms. The comparison demonstrated a significant increase in the 1298AA/677TT genotype frequency among mothers of offspring with NTDs (OR 5.23 [1.06-25.9]; p=0.067). The 677CT genotype was only 1.35 times higher than controls among mothers when 677C>T polymorphism was evaluated alone, while 677CT/1298AC in the current study demonstrated a 3.8 times increase in this risk. These observations led us to conclude that although not statistically significant, MTHFR 1298AC polymorphism might be a risk factor for the occurrence of NTDs in the Turkish population.     

Celiac disease screening in 100 Turkish children with Down syndrome

The aim of this study was to screen a group of children with Down syndrome (DS) for celiac disease, and to define future strategies for screening the patients followed at our center. One hundred children over the age of two years with Down syndrome were serologically screened using antiendomysium antibody (EMA) IgA and serum IgA in order to exclude a concomitant IgA deficiency. Clinical assessment included detailed physical examination, measurement of weight and height plotted on growth charts for DS children followed by an interview of the patients and parents about gastrointestinal symptoms. Only one patient out of 100 (1%) was detected to be EMA IgA-positive. The child's family refused consent for the biopsy procedure. None of the patients had IgA deficiency. Abdominal distention was present in 13 (13%) patients, and anorexia in 9 (9%), vomiting in 7 (7%) and alopecia areata in 2 (2%) patients were also noted. Despite the small number of patients in our group, this result yielding 1% EMA-positivity is the lowest yet determined among DS patients. It has led us to discuss whether or not a change in our screening strategy is necessary.     

Familial aquagenic acrokeratoderma: case reports and review of the literature

In recent years, a number of authors have described the development of palmar or palmoplantar keratoderma after brief exposure to water. Herein, we report a father and son with this condition, which we prefer to call aquagenic acrokeratoderma. These cases are interesting because they mark the first documentation of this entity in males. Also, they provide further evidence of familial occurrence.     

Incidence of nocturnal enuresis and nocturia in children with tuberculosis

Nocturnal enuresis is a common problem and occurs in 15 to 20 percent of 5-year-old children. The etiology of nocturnal enuresis remains unknown and is probably multifactorial. In this study 52 children aged between 6-17 years with tuberculosis were questioned for nocturia and nocturnal enuresis, retrospectively. Nocturnal, enuresis was found in 12 (23%) and nocturia in 22 (42%) of the children, respectively. After specific treatment with antituberculosis drugs nocturnal enuresis and nocturia were improved in 5 and 21 children, respectively. However, it could not be explained why these disorders were much higher in children with tuberculosis than healthy children. The findings suggest that nocturnal enuresis and nocturia may be in a high frequency in children with tuberculosis; however, the authors think that prospective and more extensive studies should be performed to clarify these preliminary findings.     

Xanthogranulomatous pyelonephritis with nephrocutanous fistula and coexisting renal replacement lipomatosis: the report of a rare case

Renal replacement lipomatosis (RRL) is the result of rare, usually unilateral, and severe atrophy and destruction of the renal parenchyma often caused by renal calculi. It may be associated with, sometimes, aging, atrophy, long-standing chronic inflammation and urinary infection, such as renal tuberculosis. We report magnetic resonance (MR) and computed tomography (CT) findings of our case, which has xanthogranulomatous pyelonephritis (XGP) and RRL additionally associated with nephrocutanous fistula.     

Alveolar epithelial permeability in patients with primary spontaneous pneumothorax as determined by Tc-99m DTPA aerosol scintigraphy

PURPOSE: Primary spontaneous pneumothorax (PSP) occurs subsequent to a disruption in the continuity of visceral pleura and escape of air into the pleural space. The cause of PSP is most often the rupture of subpleural blebs or bullae. It is usually difficult to detect evidence of pulmonary pathology. The purposes of the present study were (1) to investigate the changes of pulmonary alveolar epithelial permeability in patients with PSP as determined by Tc-99m DTPA aerosol lung scintigraphy, (2) to assess whether or not some differences exist between apical and basal parts of the lungs, and (3) to determine the relationship between the clearance rate of Tc-99m DTPA and the PFT results, the recurrence rate of PSP, and the percentage of pneumothorax in affected lung. MATERIAL AND METHODS: Thirteen PSP patients (two females, 11 males; mean age 32.5 +/- 11.8 years) with normal chest X-ray were studied. Thirteen healthy non-smoking volunteers (1 female, 12 males; mean age, 35.8 +/- 10 years) were selected as a control group. Tc-99m DTPA aerosol lung scintigraphy and PFT were performed in all patients and controls. Clearance rates (%/min) of Tc-99m DTPA aerosol in right and left lung field, and apical and basal parts of each lung were calculated from dynamic images for 15 min. RESULTS: There was no significant difference (p > 0.05) between patients and controls, or between apical and basal parts of each lung. No correlation was found between the clearance rate of Tc-99m DTPA and PFT results, the recurrence rate of PSP, or the percentage of pneumothorax. CONCLUSION: This study demonstrates that pulmonary epithelial permeability is not altered in PSP patients; the clearance rate of Tc-99m DTPA shows no difference between apical and basal parts of each lung.     

Comparison of changes in tissue oxidative-stress markers in experimental model of open, laparoscopic, and retroperitoneoscopic donor nephrectomy

PURPOSE: We evaluated the oxidative stress in renal tissue during three types of surgery: open donor nephrectomy (ODN), laparoscopic donor nephrectomy (LDN), and retroperitoneoscopic donor nephrectomy (RDN). The aim was to find out which is the appropriate procedure for harvesting a donor kidney. MATERIALS AND METHODS: Twenty-four New Zealand White rabbits were randomized to four groups, each consisting of six rabbits. Group I (control) was subjected to 180 minutes of anesthesia, and transperitoneal nephrectomy was performed without creation of warm ischemia. In group II (ODN), after 180 minutes of anesthesia, warm ischemia was created for 5 minutes, and nephrectomy was performed. Group III (LDN) was subjected to 5 minutes of warm ischemia after 180 minutes of pneumoperitoneum at 12 mm Hg, and the kidney was removed. In group IV (RDN), after pneumoretroperitoneum at 12 mm Hg for 180 minutes, warm ischemia was created for 5 minutes, and nephrectomy was performed. Renal tissues were analyzed to determine malondialdehyde (MDA) and reduced glutathione (GSH) as oxidative-stress markers. RESULTS: Renal tissue GSH levels were decreased, whereas MDA levels were increased in groups II through IV compared with the control group (p<0.05). There was no statistically significant difference between the ODN, LDN, and RDN groups in the renal oxidative-stress markers. CONCLUSION: No differences were detected in oxidative-stress markers in renal tissue samples between ODN, LDN, and RDN. Therefore, we believe LDN and RDN can be used for live donor kidney harvesting as effectively as ODN without creating greater oxidative stress, which can have deleterious effects on a donor kidney.     

Short-term effect of latanoprost on ocular circulation in ocular hypertension

PURPOSE: To determine the short-term effects of latanoprost on retrobulbar circulation in ocular hypertension. METHODS: Forty-six eyes of 23 consecutive bilateral ocular hypertensive patients with an intraocular pressure (IOP) of greater than 22 mmHg were evaluated in a prospective controlled study. All subjects received a single drop of latanoprost 0.005% in one eye and placebo in the fellow control eye. Systemic circulatory parameters, intraocular pressure, blood flow velocities, and resistance indices of the ophthalmic, short posterior ciliary and central retinal arteries were measured using colour Doppler imaging at baseline and 2 h and 8 h after dosing. RESULTS: Latanoprost lowered IOP significantly after 2 h and 8 h (P < 0.01). The mean IOP reduction was 6.7 mmHg 8 h after dosing. At baseline, there were no statistically significant differences in any retrobulbar vessels of eyes that received a single drop of latanoprost when compared with the eyes that received placebo (P > 0.05). Comparisons with baseline and latanoprost conditions revealed that latanoprost did not alter the blood flow velocities and resistance indices in the ophthalmic (P > 0.05), posterior ciliary (P > 0.05) and central retinal (P > 0.05) arteries 2 h and 8 h after dosing. The systolic and diastolic blood pressures (p = 0.74, p = 0.29, respectively) and pulse rate (p = 0.68) remained unchanged over the 8-h period. CONCLUSIONS: This study found that a single drop of latanoprost significantly reduces intraocular pressure 8 h after dosing. However, it does not have any short-term effects on the retrobulbar haemodynamics in ocular hypertensive eyes.     

Melatonin reverses urinary system and aorta damage in the rat due to chronic nicotine administration

We have evaluated the changes in contractile activity and oxidant damage of corpus cavernosum, urinary bladder, kidney and aorta after chronic nicotine administration in rats. The effects of melatonin on these parameters were investigated also. Male Wistar albino rats were injected intraperitoneally with nicotine hydrogen bitartrate (0.6 mg kg(-1) daily for 21 days) or saline. Melatonin (10 mg kg(-1), i.p.) was administered either alone or with nicotine injections. Corpus cavernosum, bladder and aorta were used for contractility studies, or stored with kidneys for the measurement of malondialdehyde and glutathione levels. Corpus cavernosum, bladder, and aorta samples were examined histologically and the extent of microscopic tissue damage was scored. In the nicotine-treated group, the contraction of corpus cavernosum, bladder and aorta samples and the relaxation of corporeal and aorta tissues decreased significantly compared with controls. However, melatonin treatment restored these responses. In the nicotine-treated group, there was a significant increase in the malondialdehyde levels of the corporeal tissue, bladder, kidney and aorta, with marked reductions in glutathione levels compared with controls. Melatonin treatment reversed these effects also. Melatonin administration to nicotine-treated animals caused a marked reduction in the microscopic damage of the tissues compared with those of the untreated group. In this study, nicotine-induced dysfunction of the corpus cavernosum, bladder and aorta of rats was reversed by melatonin treatment. Moreover, melatonin, as an antioxidant, abolished elevation in lipid peroxidation products, and reduction in the endogenous antioxidant glutathione, and protected the tissues from severe damage due to nicotine exposure.     

The role of psychological factors in alopecia areata and the impact of the disease on the quality of life

BACKGROUND: The role of psychological factors in the pathogenesis of alopecia areata (AA) has long been the subject of debate. Numerous studies have provided controversial results. AIM: This case-control study was undertaken to determine the significance of stressful life events and other psychological factors in the etiopathogenesis of AA. The impact of the disease on the quality of life was also assessed. METHODS: Fifty-two adult patients (18 females and 34 males) diagnosed with AA and 52 age- and sex-matched individuals selected from hospital staff without any hair loss (control group) were evaluated using the major life events scale, Beck depression and Beck anxiety inventories, and the Short Form-36 health survey (SF-36). In addition, comparison was performed between two patient groups created according to whether or not they linked emotional trauma with their AA attack. RESULTS: There was no statistically significant difference between the patient and control groups with regard to the total scores of stressful major life events, depression, and anxiety. Of the eight subscales on SF-36, vitality and mental health scores were higher in the control group, whereas social functioning scores were higher in the patients. The total number of stressful life events was higher in patients who attributed their disease to a stressful life event than in those who did not. CONCLUSIONS: It appears unlikely that anxiety and depression play a major role in the etiopathogenesis of AA, but stressful life events may act as a trigger in the onset and/or exacerbation of the disease. Furthermore, AA seems to have a partly negative impact on the health-related quality of life.