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Biomedical subjects

I Sasagawa

Publications and source records attributed to I Sasagawa.

At least 19 recordsLinked to original sources

Absence of microdeletions in the Y chromosome in patients with Prader-Willi syndrome with cryptorchidism.

Unilateral or bilateral cryptorchidism is found in 80-100% of male patients with Prader-Willi syndrome (PWS). Recently, the relationship between Yq deletions and cryptorchidism has been assessed. However, the relationship between Yq deletions and PWS patients with cryptorchidism remains unclear. Polymerase chain reaction (PCR) amplification of 51 DNA loci encompassing all of the regions for azoospermia factor (AZF) of the Y chromosome, including the deleted in azoospermia (DAZ) and ribonucleic acid-binding motif (RBM) genes, were examined for microdeletions in 10 PWS males with cryptorchidism and 20 healthy control male subjects. No microdeletions of 51 loci were found in any of the PWS males. The present study therefore suggests that microdeletions in the AZF regions of the Y chromosome do not relate to the occurrence of cryptorchidism in PWS patients.

Adolescent↗

Glucocorticoid hormone can suppress apoptosis of rat testicular germ cells induced by testicular ischemia.

OBJECTIVE: To evaluate the effect of dexamethasone, a potent synthetic glucocorticoid hormone, on apoptosis of testicular germ cells and vascular neutrophil adhesion after repair of testicular torsion in rats. DESIGN: Controlled laboratory study. SETTING: Department of Urology, Yamagata University School of Medicine, Yamagata, Japan. ANIMAL(S): Fifty-one male Sprague-Dawley rats. INTERVENTION(S): Dexamethasone, 10 mg/kg of body weight. MAIN OUTCOME MEASURE(S): Testicular germ-cell apoptosis (percentages of apoptotic tubules and apoptotic cells) and vascular neutrophil adhesion were assessed by using DNA nick-end labeling and the endothelial-neutrophil adhesion score, respectively. RESULT(S): Intravenous administration of dexamethasone at repair of 90-minute testicular torsion significantly inhibited testicular germ-cell apoptosis and vascular neutrophil adhesion. This inhibition was suppressed by intravenous injection of mifepristone, a glucocorticoid-receptor antagonist. CONCLUSION(S): Glucocorticoids can be administered for torsion in addition to conventional torsion repair.

Animals↗

Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism.

OBJECTIVE: To evaluate the occurrence of mutations of androgen receptor (AR) gene in patients with isolated cryptorchidism. DESIGN: Controlled clinical study. SETTING: Yamagata University Hospital, Yamagata and Tokyo Electric Power Company Hospital, Tokyo, Japan. PATIENT(S): Patients with isolated cryptorchidism (n = 48) and a control group of men with normal phenotype (n = 20). INTERVENTION(S): Blood (lymphocyte DNA). MAIN OUTCOME MEASURE(S): Screening of the AR gene in exons 1-8 using single-strand conformational polymorphism analysis. RESULT(S): No abnormal band patterns were detected in patients with cryptorchidism or in control subjects within the eight exons of the AR gene. CONCLUSION(S): AR gene alterations appear to be an unlikely cause of isolated cryptorchidism.

Adolescent↗

Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene.

We report an 11-year-old boy with undermasculinized genitalia and an abnormally expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had microphallus and scrotal hypospadias with chordee, and underwent urethroplasty at 4 years of age. At 11 years of age, a gonadotropin releasing hormone (GnRH) test yielded a relatively high leutinizing hormone (LH) response (0.7-->20.4 IU/l) and a relatively low follicle-stimulating hormone (FSH) response (1.7-->4.8 IU/l), and an human chorionic gonadotropin (hCG) test showed sufficient responses of testosterone (0.7-->23.0 nmol/l) and dihydrotestosterone (0.38-->2.95 nmol/l). The CAG repeat length was 44 for the boy and ranged from 12 to 32 for 100 control males. The DNA sequences of the AR gene were normal for the exons 1-8 and for the splice donor, splice acceptor and branch sites. The markedly expanded CAG repeat length appears to be relevant to the undermasculinized genitalia of this boy, because such an expandsion, which has previously been reported only in spinal and bulbar muscular atrophy, is known to reduce AR function.

Age of Onset↗

Possible involvement of the membrane-bound form of peroxiredoxin 4 in acrosome formation during spermiogenesis of rats.

Peroxiredoxins are novel peroxidases that exhibit divergent biological functions. The fourth member, Prx4, is synthesized with a signal sequence and, after processing, secreted as a 27-kDa form in most tissues. A 31-kDa Prx4 which corresponds to the unprocessed, membrane-bound form is found only in testis. This study was undertaken in order to investigate the role of the membrane-bound Prx4 during spermiogenesis in rats. The Prx4 transcript was observed in testes at 14 days of age, the age before puberty, and its level increased only slightly during aging. Only the secretable form of Prx4 was present before 30 days of age, but the membrane-bound Prx4 became detectable in adult testes, although sum of the two forms appeared to be the same after 21 days old. While weak immunoreactivity to the Prx4 antibody was detected in spermatogenic cells for all ages, a strong immunoreactivity was observed in the elongating spermatid and residual body of adult testis. Prx4 was present in the lumen of the endoplasmic reticulum, Golgi bodies, and the perinuclear space in young rat testes. However, the localization of Prx4 was restricted to membranes of the acrosomal vesicle of the elongated spermatid and was not detected in spermatozoon. Once spermiogenesis is accomplished, vesicles containing the membrane-bound Prx4 were released into the residual body, along with residual membranous components. Thus the conversion of the soluble form to the membrane-bound form may have a role in the acrosome formation during vesicular reorganization during spermiogenesis.

Acrosome Reaction↗

Changes in cellular immunity during chemotherapy for testicular cancer.

BACKGROUND: The changes in vivo in immunocyte functions during chemotherapy that is administered in combination with granulocyte colony-stimulating factor (G-CSF) in humans have not been fully investigated. This study was designed to examine neutrophil functions and the activities of natural killer (NK) cells, during the administration of chemotherapy and G-CSF for the treatment of testicular cancer. METHODS: Seven patients with germ cell tumors at stage IIA, IIB or IIIB, who were treated with bleomycin, etoposide and cisplatin (BEP), were enrolled in the study. Numbers and activities of neutrophils and NK cells were measured at various times during and after the first course of chemotherapy. Neutrophil phagocytosis was quantitated by flow cytometry with fluorescent latex beads. Bactericidal activity was measured in terms of colony-forming units. The activity of NK cells was measured by monitoring the release of 51Cr. RESULTS: After BEP chemotherapy, CD16+ and CD56+ cell counts, and neutrophil granulocyte counts decreased while there were no significant changes in the number of lymphocytes. Phagocytosis by neutrophils was enhanced after administration of G-CSF. The activity of NK cells was severely impaired after chemotherapy and did not change after administration of G-CSF. CONCLUSIONS: After BEP chemotherapy for testicular cancer with G-CSF, neutrophil function was not at all inferior to those before treatment. Natural killer cell activity was suppressed by the BEP chemotherapy and did not change after administration of G-CSF.

Adult↗

Tumour angiogenesis and Ki-67 expression in phaeochromocytoma.

OBJECTIVE: To determine the expression of CD34 (to evaluate vascularity) and Ki-67 (as a proliferative index) in a variety of phaeochromocytomas and thus assess the utility of these markers as possible predictors of malignancy. PATIENTS AND METHODS: Deparaffinized tissue sections from 21 patients with benign and four with malignant phaeochromocytoma were assessed immunohistochemically to evaluate microvascular counts (using CD34 antigen) and the proliferative index (Ki-67 antigen, monoclonal antibody MIB-1). RESULTS: There was no statistical association between high microvascular counts and malignancy, but there was between the MIB-1 score and malignancy (P < 0.001). CONCLUSIONS: A high MIB-1 score in phaeochromocytoma suggests malignant behaviour in the component cells. The MIB-1 score may be a useful indicator for diagnosing malignant phaeochromocytoma.

Adrenal Gland Neoplasms↗

Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis.

BACKGROUND: Mutations of the androgen receptor (AR) gene give rise to a wide array of phenotypic abnormalities. A systematic analysis of the AR gene in patients with 47,XXY has not previously been performed. METHODS: Mutations of the AR gene and expansion of the CAG repeats in exon 1 of the AR gene were studied in 13 patients with Klinefelter's syndrome either with (n = 1) or without (n = 12) spermatogenesis. RESULTS: No abnormalities in the AR gene were detected by single strand conformational polymorphism analysis. The CAG lengths ranged from 17 to 27 (mean +/- SD 22.8 +/- 3.3, median 23) for Klinefelter patients or from 17 to 28 (mean +/- SD 23.2 +/- 2.6, median 23) for control subjects. X-inactivation analysis for the methylation status of the AR gene was performed in seven patients who were heterozygous for CAG repeats of different length, showing that the longer CAG repeat alleles underwent random but more frequent inactivation in five patients and skewed inactivation in two. CONCLUSIONS: An AR gene abnormality does not constitute an important factor for impaired spermatogenesis in patients with Klinefelter's syndrome.

Adult↗

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.

We report on mutation screening and CAG repeat length analysis of the androgen receptor (AR) gene in 21 patients with hypospadias. The urethral meatus was located at the glandular region in six patients (glandular type), at the penile shaft in seven patients (penile type), and at the scrotal/perineal region in eight patients (scrotal/perineal type). Mutation screening was performed for exons 1-8 and their flanking introns (except for the CAG and GGC repeat regions at exon 1) by the heteroduplex detection method and showed no abnormal chromatograms. The CAG repeat length analysis was carried out using 50 normal boys and 50 fertile males as controls, and demonstrated no statistically significant difference in the median of CAG repeat lengths or in the frequency of long CAG repeats (> or = 26 or > or = 28) between the controls and the patients with the three different types of hypospadias. The results suggest that AR gene abnormalities do not constitute a major factor in the development of hypospadias.

Adolescent↗

Morphometric analysis of symptomatic benign prostatic hyperplasia with and without bladder outlet obstruction.

To investigate the histological features of benign prostatic hyperplasia (BPH) with and without bladder outlet obstruction (BOO), 32 patients with symptomatic BPH, 22 with BOO and ten without BOO, were studied. The area density of smooth muscle, fibrous tissue, glandular epithelium, and glandular lumen in BPH adenoma resected by transurethral surgery was estimated using morphometric analysis. No differences were found in the area density of stromal and glandular components between the two groups. In the glandular component, neither the epithelium nor lumen differed between the two groups. However, the area density of smooth muscle in the obstructed group showed a decrease compared to that in the unobstructed group (P < 0.01). We conclude that a decreased proportion of smooth muscle in BPH adenoma may play an important role in BOO.

Aged↗

Relatively poor oocyte quality is an indication for intracytoplasmic sperm injection.

OBJECTIVE: To determine the relation between the insemination method used and the quality of oocytes and embryos. DESIGN: Prospective study. SETTING: Assisted reproductive centers at Yamagata University Hospital and Kuramoto Women's Clinic in Yamagata, Japan. PATIENT(S): Forty patients undergoing IVF and 40 patients undergoing intracytoplasmic sperm injection (ICSI). INTERVENTION(S): To estimate oocyte quality, the granulosa cells surrounding the oocyte were fixed and stained with a commercial dye in both groups of patients. One thousand granulosa cells were examined under a fluorescence microscope. MAIN OUTCOME MEASURE(S): The incidence of apoptotic granulosa cells surrounding each oocyte. RESULT(S): The incidence of apoptosis in the granulosa cells enclosing the oocytes that were fertilized by IVF was significantly lower than that in the oocytes that were fertilized by ICSI. Moreover, the incidence of apoptosis in the granulosa cells enclosing the oocytes that grew into good-quality or fair-quality embryos was significantly lower after conventional IVF than after ICSI. With ICSI, the incidence of apoptosis was not significantly different among the granulosa cells surrounding the oocytes that were inseminated, were fertilized, or developed into good-quality or fair-quality embryos. With IVF, the incidence of apoptosis was highest in the granulosa cells surrounding the oocytes that were inseminated and lowest in the granulosa cells surrounding the oocytes that developed into good-quality and fair-quality embryos. CONCLUSION(S): A good-quality oocyte is necessary for the development of a good-quality embryo with IVF but not with ICSI. Thus, relatively poor oocyte quality is a good indication for the use of ICSI.

Apoptosis↗

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

BACKGROUND: Although the frequent association between distal 10q monosomy and urogenital anomalies suggests the presence of a gene(s) for urogenital development on distal 10q, molecular deletion mapping has not been performed for the putative gene(s). In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy. METHODS: This study consisted of six karyotypic males (cases 1 through 6) and four karyotypic females (cases 7 through 10) with 10q26 monosomy. Cases 3 through 5 and 7 through 10 had urinary anomalies such as vesicoureteral reflux and hypoplastic kidney, and cases 1 through 6, 8, and 9 exhibited genital anomalies such as micropenis, hypospadias, cryptorchidism, and hypoplastic labia majora. Fluorescence in situ hybridization (FISH) for 10q telomere, whole chromosome 10 painting, and microsatellite analysis for 35 loci on distal 10q were performed in cases 1 through 8. RESULTS: FISH and whole chromosome painting confirmed distal 10q monosomy in cases 1 through 8. Microsatellite analysis revealed that hemizygosity for the region distal to D10S186 was shared by cases with urinary anomalies and that for the region distal to D10S1248 was common to cases with genital anomalies. Furthermore, it was indicated that PAX2, GFRA1, and EMX2 on distal 10q, in which the deletions could affect urinary and/or genital development, were present in two copies in cases 1 through 8. CONCLUSIONS: The results suggest that a novel gene(s) for urinary development and that for genital development reside in the approximately 20 cM region distal to D10S186 and in the approximately 10 cM region distal to D10S1248, respectively, although it remains to be determined whether the two types of genes are identical or different.

Adolescent↗

Indication of cystoscopy in patients with asymptomatic microscopic haematuria.

To establish the appropriate indication of cystoscopy in patients with asymptomatic microscopic haematuria, we reviewed 263 cases with positive reaction for urinary dipstick test on annual health screening examination. On initial examination, 18 highly significant lesions, 52 moderately significant lesions and 38 insignificant lesions were detected. No underlying lesion could be found in 96 patients and no microscopic haematuria in 59 patients. However, bladder cancers were detected in only 8 (3.0%) cases. All patients with bladder cancer were older than 40 years. These facts suggest that cystoscopy is not necessary for patients with a single microscopic haematuria and those younger than 40 years.

Adolescent↗

Posterior retroperitoneoscopic partial adrenalectomy using ultrasonic scalpel for aldosterone-producing adenoma.

BACKGROUND: Posterior retroperitoneoscopic adrenalectomy has become a standard procedure, but removal of the entire gland is not necessary in all cases. PATIENTS AND METHODS: We performed 10 posterior retroperitoneoscopic partial adrenalectomies for aldosterone-producing adenoma (APA) using an ultrasonic scalpel to divide the normal adrenal gland and the adenoma. RESULTS: The mean operation time and blood loss were 154 (110-231) minutes and 11 (5-32) mL, respectively. The mean weight of removed tissue was 5.7 g (2.3-10.2 g). Subcutaneous emphysema occurred in three patients, but there were no serious operative complications. CONCLUSION: Posterior retroperitoneoscopic partial adrenalectomy using the ultrasonic scalpel may be a valuable treatment for typical solitary APA.

Adenoma↗

Apoptosis of testicular germ cells induced by exogenous glucocorticoid in rats.

The influence of exogenous glucocorticoid, dexamethasone (Dex), on testicular germ cell apoptosis was investigated in rats. The percentages of apoptotic tubules and apoptotic germ cells in the Dex-treated group of rats were about seven-fold and 10-fold higher respectively than in either the control group, or in rats treated with glucocorticoid receptor agonist (GR-A), or in rats treated with both Dex and GR-A. These results suggest that, in rats, apoptosis of testicular germ cells is mediated by glucocorticoid receptors.

Animals↗

CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism.

We have analysed the CAG repeat length in exon 1 of the androgen receptor gene in 48 Japanese males with cryptorchidism and 100 fertile Japanese males. The CAG repeat length was 23.4 +/- 0.48 (mean +/- SE) (range 16-32, median 23) in cryptorchid patients and 23.5 +/- 0.29 (range 15-32, median 23) in normal males. There was no significant difference between the two groups. The expansion of the CAG repeats in exon 1 of the androgen receptor gene is unlikely to constitute a major cause of cryptorchidism.

Adolescent↗