63 research outputs found

    Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers

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    The aldehyde degrading function of the ALDH2 enzyme is impaired by Glu504Lys polymorphisms (rs671, termed A allele), which causes alcohol flushing in east Asians, and elevates the risk of esophageal cancer among habitual drinkers. Recent studies suggested that the ALDH2 variant may lead to higher levels of DNA damage caused by endogenously generated aldehydes. This can be a threat to genome stability and/or cell viability in a synthetic manner in DNA repair-defective settings such as Fanconi anemia (FA). FA is an inherited bone marrow failure syndrome caused by defects in any one of so far identified 22 FANC genes including hereditary breast and ovarian cancer (HBOC) genes BRCA1 and BRCA2. We have previously reported that the progression of FA phenotypes is accelerated with the ALDH2 rs671 genotype. Individuals with HBOC are heterozygously mutated in either BRCA1 or BRCA2, and the cancer-initiating cells in these patients usually undergo loss of the wild-type BRCA1/2 allele, leading to homologous recombination defects. Therefore, we hypothesized that the ALDH2 genotypes may impact breast cancer development in BRCA1/2 mutant carriers. We genotyped ALDH2 in 103 HBOC patients recruited from multiple cancer centers in Japan. However, we were not able to detect any significant differences in clinical stages, histopathological classification, or age at clinical diagnosis across the ALDH2 genotypes. Unlike the effects in hematopoietic cells of FA, our current data suggest that there is no impact of the loss of ALDH2 function in cancer initiation and development in breast epithelium of HBOC patients

    Follicular development after ovum pick-up and fertilizability of retrieved oocytes in postpartum dairy cattle

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    This study aimed to evaluate gonadotropin secretion and the developmental competence of follicular oocytes in dairy cattle during the early postpartum (PP) period. The number of follicles developed after transvaginal ultrasound-guided ovum pick-up (OPU) and fertilizability of retrieved oocytes were compared between cows in which the first dominant follicle (DF) ovulated (ovulated group, n=4) and did not ovulate (non-ovulated group, n=3), and between early PP (early PP group, n=2) and after the resumption of the estrous cycle (cyclic group, n=2). Follicular ablation was performed 2-4 days after the detection of DF in the second follicular wave PP. OPU was repeated 3-5 times at 3 or 4- day intervals from 3-4 days after the follicular ablation. At OPU, the follicles were enumerated and all those ≧5mm in diameter were aspirated. Recovered oocytes were subjected to in vitro maturation and fertilization. Both criteria were similar between ovulated and non -ovulated groups, and between early PP and cyclic groups. These results suggest that FSH/LH secretions required for follicle recruitment and subsequent follicular growth during the early PP period are similar to those after resumption of the estrous cycle. They also indicate that follicular oocytes during the early PP period have developmental competence

    Acute testicular atrophy in an active Thoroughbred stallion

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    A Thoroughbred stallion was used as an active stallion for ten years, however, the number and motility of sperm dramatically decreased and azoospermia occurred at 16 years of age. Circulating luteinizing hormone (LH) was high at 16 years of age compared to the levels before the occurrence of these symptoms. Testicular endocrine function was examined by human chorionic gonadotropin (hCG) administration. No increase in circulating testosterone was detected at 16 years of age, whereas two peaks of testosterone were observed with hCG treatment at 12 years of age. The number of Leydig cells in the testes increased, but the LH receptor was not detected in Leydig cells. These results demonstrated that acute testicular atrophy occurred within one year

    Omental Infarction due to Omental Torsion

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    Omental torsion is a rare cause of acute abdomen and sometimes requires surgery. Recently, we encountered a case of omental torsion diagnosed as omental infarction preoperatively. An 18-year-old male presented to our emergency room with a chief complaint of lower abdominal pain since previous 2 days. Because of his history of Down syndrome, an abdominal examination was very difficult. Plain abdominal computed tomography (CT) suggested omental hernia adhering to the right paracolic gutters. Two days after hospital admission, symptoms did not improve, and contrast-enhanced abdominal CT suggested omental infarction. We performed an emergency surgery. Upon exploration of the abdominal cavity, the greater omentum was found to be twisted four times and adhered to the right paracolic gutters. We performed a partial omentectomy. He was discharged 9 days after the surgery. There was no cause of omental torsion in the abdominal cavity, and he was diagnosed as having idiopathic omental torsion. In cases wherein the cause of acute abdomen cannot be detected, omental torsion should be considered, and abdominal CT could be helpful for the diagnosis
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