Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation

X linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease characterized by progressive demyelination of the central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs). It is caused by mutations in ABCD1 gene located at Xq28. More than 1,300 mutations have been identified to date which is unique to each patient. In this study we report the mutational analysis of 2 X-ALD patients (1 male and 1 female) showing variable clinical spectrum. The mutation analysis of the female patient revealed IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state. The male patient was found to be hemizygous for a novel mutation, p. R104P. In conclusion, while defining a novel mutation, the cases presented herein may contribute to the mutation and clinical spectrum of X-ALD.     

The only effects of recombinant follicle-stimulating hormone for ovulation induction in the pre-implantation period of rats

Objective The aim of this study was to evaluate the changes in follicular development, serum hormonal levels, and endometrium in the pre-implantation period of rats by using recombinant FSH (rFSH) without human chorionic gonadotropin (hCG). Methods Thirty female rats were studied in six groups of five specimens. Two groups determined as controls (groups 1 and 2). Two groups received constant doses of rFSH (groups 3 and 4) and other two decreasing doses (groups 5 and 6). One of the paired groups was mated. Uterus, ovaries, and blood samples were taken from non-mated groups (groups 1, 3, and 5) at the proestrus period and from mated groups (groups 2, 4, and 6) in the pre-implantation period. Results In non-mated groups antral follicles and corpus luteum periodicum and in mated groups antral follicles, corpus luteum periodicum, and corpus luteum graviditatis were increased in rFSH groups, especially in decreasing dose groups. Estradiol (E₂) levels were increased and progesterone (P)/E₂ ratio was significantly decreased in decreasing dose groups. Endometrium surface epithelium was columnar, irregular, and folded in rFSH groups. Endometrium glandular epithelium was cuboidal in all groups. In decreasing dose groups endometrial stroma was smooth and fibroblastic. Mitotic indices of endometrium surface, glandular epithelium, and stroma were significantly decreased in rFSH groups. Primary follicles and P levels showed no change. Conclusion It seems likely that decreasing doses of rFSH might be used in order to improve follicular development, although it has negative effects with E2 on endometrium in the pre-implantation period of rats.     

Microsatellite instability is not a common feature in medullary breast cancer

Microsatellite instability (MSI) is a form of genomic instability associated with defective DNA mismatch repair in tumors. MSI is found in 85-90% of hereditary nonpolyposis colorectal cancer cases; however, its occurrence in breast carcinogenesis still remains to be clarified. In addition, data are limited on the incidence of MSI in the medullary subtype. The purpose of this study was to investigate the occurrence of MSI in medullary breast cancer (MBC). The study included a total of 16 patients with MBC, nine with typical and seven with atypical histology. The incidence of MSI in five microsatellite loci (D2S123, D3S1611, D17S807, D17S796 and Xq11-12) was determined by comparing paired normal and tumor tissue DNA after PCR amplification from paraffin-embedded tissues. All 16 tumors showed stability at five loci. Although the number of microsatellite markers and DNA samples may limit the value of our results, we conclude that the MSI phenotype is uncommon in human MBC.     

What Is The Role of Mechanical Bowel Preparation in Patients with Pilonidal Sinus Undergoing Surgery? Prospective, Randomized, Surgeon-blinded Trial

The aim of this study was to determine the effect of a mechanical bowel preparation on postoperative surgical wound infections in patients treated with identical antimicrobial prophylaxis undergoing wide excision and primary closure for chronic pilonidal sinus disease. Patients more than 18 years old were included in the study. All patients had intravenous antimicrobial prophylaxis at the time of anesthesia induction. In a prospective, randomized setting, patients were allocated to either the bowel preparation group or the no-bowel-preparation group. Mechanical bowel preparation was performed using an oral sodium phosphate solution. On the morning of the procedure a rectal enema was performed with the phosphate solution. The primary outcome measure was the rate of wound infection, but all postoperative complications and recurrences were recorded. All patients were actively observed for 1 year after discharge. The overall infection rate for the entire study population was 12.8% (13/101) including 14.3% (7/49) of those who had had the bowel preparation and 11.5% (6/52) of those with no bowel preparation. There was no statistically significant difference between groups (P = 0.680). The mean rate of recurrence for all 101 patients was 4.9% (5/101) at 19.2 months (range 12–32 months) of follow-up. The recurrence rate was 6.1% (3/49) in the bowel preparation group and 3.8% (2/52) in the no-bowel-preparation group (P = 1.000). Although the number of patients is small in this study, our results showed that the mechanical bowel preparation does not cause a decrease in the rate of surgical wound infections after excision and primary closure in patients with chronic pilonidal sinus disease.     

Expression of Bcl-2, Bax and p53 proteins in pituitary adenomas: an immunohistochemical study

AIMS AND BACKGROUND: Although pituitary adenomas are usually benign lesions, their growth rate is highly variable and unpredictable. Apoptosis appears to be an important process in neoplastic lesions. The purpose of this study was to investigate the expression of apoptosis-related proteins including Bcl-2, bax and p53 in pituitary adenomas and its correlation with hormone function, tumor size, local control, and proliferative activity. STUDY DESIGN: The expression of Bcl-2, Bax and p53 proteins and hormonal function were determined in formalin-fixed, paraffin-embedded tissue from 41 untreated pituitary adenomas using immunohistochemistry. The patients were followed for a median of 60 months (range, 12 to 95). Patient charts were reviewed to record tumor recurrence and size. Tumor proliferative activity was assessed by immunohistochemistry using Ki-67 antibody. RESULTS: Of 41 pituitary adenomas, 26 (63%) were hormone-secreting and 15 (37%) non-functioning, 34 (83%) were macroadenoma and 7 (17%) microadenoma, and 15 (37%) showed local relapse. Six (14%) adenomas were of low proliferative activity, whereas the others (86%) were non-proliferative. Immunohistochemically, 31 adenomas (75%) showed bcl-2 positivity, 37 (90%) bax positivity, and 7 (17%) p53 positivity. Statistical analysis revealed that Bcl-2 protein expression significantly diminished in prolactin-secreting and non-functioning adenomas (P = 0.005 and P = 0.006, respectively), and increased in growth hormone-secreting adenomas (P = 0.003). In addition, expression of bax protein significantly decreased in recurrent tumors, in contrast to p53 protein, which showed a significant increase (P = 0.03 and P = 0.002, respectively). CONCLUSIONS: We think that apoptosis-related proteins such as Bcl-2, Bax and p53 may be significantly related to hormone function and local control in pituitary adenomas.     

Ondansetron versus diclofenac sodium in the treatment of acute ureteral colic: A double blind controlled trial

The aim of this study is to compare the effectiveness of the 5-HT₃ antagonist, ondansetron and a non-steroidal anti-inflammatory agent, diclofenac sodium, as a pain reliever in the treatment of acute ureteral colic. Sixty four patients with severe or moderate pain who were clinically diagnosed as having ureteral colic associated with microscopic or gross hematuria were included in the study. Thirty three patients were administered ondansetron and 31 patients were administered diclofenac sodium. Exclusion critera were known kidney or liver disease causing dysfunction, known hypersensitivity to ondansetron or diclofenac sodium, pregnancy, lactation, duodenal ulcer or bleeding. After pain assessment with a verbal scale and a visual analog scale (VAS), we randomized patients and administered 8 mg ondansetron intravenously to 33 patients and 75 mg diclofenac sodium intramuscularly to 31 patients and pain scores were recorded every 15 minutes. If significant pain relief was not achieved within 60 minutes, IV meperidine was given as rescue pain medication. Ondansetron was effective as a primary pain reliever in 14 (42.4%) patients, whereas 19 patients required additional medication. Diclofenac sodium was effective as a primary pain reliever in 24 (77.4%) patients, whereas 7 patients required additional medication. Ondansetron was not superior to diclofenac sodium in relieving pain in patients with acute ureteral colic.