Absence of Y-chromosome microdeletions in patients with isolated hypospadias.
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Biomedical subjects
Publications and source records attributed to T Tateno.
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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.
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.
We previously found that the promoter activity of plasminogen (PLG)-related gene B (PRGB) was 5-fold that of PLG. We have since examined the transcript levels of PRGB among various normal human tissues, and compared these findings with those of PLG. Reverse transcription-PCR analysis revealed that the PRGB expression varied widely among different tissues, while PLG was expressed only in the liver and kidney. RNA samples obtained from cultured cell lines also demonstrated differing PRGB expression. Furthermore, increased PRGB expression was observed in several fresh samples of cancer tissue obtained from cancer patients when compared with surrounding normal tissues.
To study the use-dependent modification of activity in neural networks, we investigated the spike timing by simultaneously recording activity at multiple sites in a network of cultured cortical neurons. We used dynamical analysis to study the temporal structure of spike trains and the activity-dependent changes in the reliability and reproducibility of spike patterns evoked by a stimulus. We also used cross-correlation analysis to evaluate the interactions of neuron pairs. Our main conclusions are that even when no obvious change in spike numbers can be seen, use-dependent modification occurs, either enhancing or reducing in the reliability and reproducibility of spike trains evoked by a stimulus, and the fine temporal structure of stimulus-evoked spike trains and interactions between neurons are also modified by tetanic stimulation.
Activity-dependent modification of synaptic efficacy is widely recognized as a cellular basis of learning, memory, and developmental plasticity. Little is known, however, of the consequences of such modification on network activity. Using electrode arrays, we examined how a single, localized tetanic stimulus affects the firing of up to 72 neurons recorded simultaneously in cultured networks of cortical neurons, in response to activation through 64 different test stimulus pathways. The same tetanus produced potentiated transmission in some stimulus pathways and depressed transmission in others. Unexpectedly, responses were homogeneous: for any one stimulus pathway, neuronal responses were either all enhanced or all depressed. Cross-correlation of responses with the responses elicited through the tetanized site revealed that both enhanced and depressed responses followed a common principle: activity that was closely correlated before tetanus with spikes elicited through the tetanized pathway was enhanced, whereas activity outside a 40-ms time window of correlation to tetanic pathway spikes was depressed. Response homogeneity could result from pathway-specific recurrently excitatory circuits, whose gain is increased or decreased by the tetanus, according to its cross-correlation with the tetanized pathway response. The results show how spatial responses following localized tetanic stimuli, although complex, can be accounted for by a simple rule for activity-dependent modification.
OBJECTIVE: To evaluate the occurrence of microdeletions of the Y chromosome involving the DAZ and YRRM genes in patients with Klinefelter's syndrome with and without spermatogenesis. DESIGN: Controlled clinical study. SETTING: Yamagata University Hospital, Yamagata, Japan. PATIENT(S): Patients with Klinefelter's syndrome with spermatogenesis (n = 1) and without spermatogenesis (n = 20) and a control group of men of proven fertility (n = 10). INTERVENTION(S): Blood and semen sampling and testicular biopsy. MAIN OUTCOME MEASURE(S): Semen analysis, polymerase chain reaction amplification of 32 DNA loci on the long arm of the Y chromosome involving the DAZ (deleted in azoospermia) and YRRM (Y chromosome ribonucleic acid recognition motif) genes, and measurement of plasma FSH, LH, and testosterone levels. RESULT(S): No microdeletions of 32 loci were found in any of the patients with Klinefelter's syndrome, either with or without spermatogenesis. Plasma LH and FSH levels were abnormally high and testosterone levels were reduced in all the patients with Klinefelter's syndrome. American Society for Reproductive Medicine.) CONCLUSION(S): Severe impairment of spermatogenesis in patients with Klinefelter's syndrome is not caused by microdeletions of the Y chromosome involving the DAZ and YRRM genes.
We describe an 11-month-old boy with karyotype of 47,XYY who presented with bilateral cryptorchidism, and discuss the hormonal condition of the patient.
We report on a boy with long-arm deletion of chromosome 10 and compare this case to 10 previously reported patients. He had right cryptorchidism and absence of the left testis, but the size of his penis was normal. Cytogenetic analysis of the case showed the deficiency of 10q26.1-26.3 and the presence of 10qter. Four of 10 previously reported patients had an intersex phenotype, and all others had combinations of cryptorchidism, micropenis and hypospadias. These facts indicate that the terminal of chromosome 10q is strongly associated with abnormal male development.
Pulmonary function tests were performed in 12 patients who underwent posterior retroperitoneoscopic surgery, before and on the 3rd and 7th days after operation. Forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), FEV1/FCV, vital capacity (VC), total lung capacity (TLC), residual volume (RV) and functional residual capacity (FRC) were not significantly different between before and after surgery. It is assumed that posterior retroperitoneoscopic surgery could be performed without impairment of pulmonary function after surgery.
To assess testicular function in experimental varicocele rats, we used 31P magnetic resonance (MR) spectroscopy and compared MR spectroscopic parameters with flow cytometric DNA analysis. In vivo 31P MR spectroscopy and flow cytometric DNA analysis of testes were performed in 10 sham-operated and 9 induced varicocele rats. Although the testicular phosphomonoester (PM)/ATP ratio did not differ between sham-operated and induced varicocele rats, the phosphodiester (PD)/ATP ratio was significantly reduced and the inorganic phosphate (Pi)/ATP ratio was significantly increased in induced varicocele rats. There was no difference between the right and left sides. DNA flow cytometry showed a decrease in the percentage of haploid cells in induced varicocele rats, regardless of the side. This study indicates that in vivo 31P MR spectroscopy provides valuable information for assessment of testicular function.
Fertilization and embryo development following intracytoplasmic injection of round spermatids collected from hybrid sterile mice (BALB/c) were investigated. The rates of oocyte activation, blastocyst formation and development into live offspring were compared with those after intracytoplasmic injection of round spermatids from fertile mice (B6D2F1). The injection of oocytes with round spermatids from hybrid sterile or sterile males resulted in similar rates of normal fertilization and embryo development. The rates of development to term of 2-cell embryos were also similar, regardless of the origin of the round spermatids injected. This finding suggested that round spermatids from hybrid sterile mice have the ability to fertilize normally and to allow normal embryo development.
We performed 15 retroperitoneoscopic partial adrenalectomies using an endoscopic stapling device to divide the normal adrenal tissue and adenoma. The mean operating time and mean blood loss were 162 (129-210) min and 12 (5-67) ml, respectively. In 1 patient (6.7%), a pneumothorax occurred at the end of the procedure due to injury of the medial crus of the diaphragm. However, the procedure was not subsequently converted to open surgery. These facts suggest that posterior retroperitoneoscopic partial adrenalectomy is a valuable addition to adrenal gland surgery.
Testicular function in stepwise-nephrectomized rats, with a different interval between the two operations, was studied suing male Wistar rats. Serum levels of urea nitrogen and creatinine in stepwise-nephrectomized rats were significantly elevated compared to those in sham-operated rats (p < 0.001). With a 1-day interval between the two operations, these concentrations were considerably higher (p < 0.001) than those in 7-day interval rats. While serum LH levels were significantly reduced (p < 0.001) in 1-day interval rats, FSH levels in this group were considerably higher (p < 0.001) than in other groups. Serum concentrations of androstenedione in 1-day interval rats were significantly suppressed compared to other groups (p < 0.01). Serum testosterone levels in stepwise-nephrectomized rats were considerably lower (p < 0.001) than in sham-operated rats. It is assumed that testicular function in stepwise-nephrectomized rats is influenced by the interval between the two operations.
A 76-year-old man with renal artery aneurysm was successfully treated by transcatheter embolization with complete preservation of renal blood flow. Embolization was performed with detachable platinum coils. Two months later, follow-up angiography showed completely packed aneurysm and preserved blood flow of the branch. It may be reasonable to consider that embolization of the aneurysm is the primary treatment modality for some of the patients with renal artery aneurysm.
BACKGROUND: The side effects of steroid are serious problems in renal transplant patients. However, withdrawal of steroid has been controversial. We evaluated the benefits and risk of early steroid withdrawal after renal transplantation. PATIENTS AND METHODS: The outcomes of early steroid withdrawal from triple immunosuppressive drug therapy were analyzed in four living related and one cadaveric renal transplant recipients. The dosage of steroid was gradually reduced and the time of steroid withdrawal after transplantation was 5 to 7.5 months. RESULTS: Four Patients have been able to be free from steroid and maintained stable graft functions and normal urinary findings for 14 to 33 months after withdrawal. The findings of rejection were not observed in the graft specimens obtained by serial biopsies. One patient who received a living related graft developed an increase in serum creatinine level and proteinuria two weeks after discontinuation of steroid. The serum creatinine level returned to that before withdrawal and proteinuria disappeared by steroid readministration. Long term side effects of steroid were not observed in 4 patients with successful steroid withdrawal. CONCLUSION: These results suggest that steroid withdrawal about 6 months after transplantation can be accomplished without jeopardizing graft function in selected renal transplant recipient and the withdrawal in the early stage is preferred for reducing the side effects. Careful and long-term follow up are required to assess the further risk and benefit of steroid withdrawal on immunosuppressive morbidity.
Serum concentration of iopamidol was measured in 29 male patients with outlet obstructive symptoms after retrograde urethrography. Although no patient showed extravasation, serum iopamidol level was detectable in 4 (14%) patients. Since severe adverse effects are considerably reduced with iopamidol, we prefer to use this contrast medium for retrograde urethrography in male patients with outlet obstructive symptoms.
Hormonal and ultrastructural examinations of the testis were performed in a patient with Down's syndrome. Plasma testosterone was abnormally low, and circulating levels of LH and FSH were higher than the normal range. The administration of HCG resulted in a low response of plasma testosterone. Electron microscopy revealed proliferation of smooth endoplasmic reticulum, an increase in paracrystalline inclusions and the absence of Reinke's crystals in Leydig cells.