RESUMEN
The incidence rate of prostate cancer in African-American males is two times higher than Caucasian men and ten times higher than Japanese men. The geographical specificity of Y haplogroups implies that males from different ethnic groups undoubtedly have various Y lineages with different Y-chromosomal characteristics that may affect their susceptibility or resistance to such a male-specific cancer. To confirm this hypothesis we studied the Y-chromosomal haplogroups of 92 Japanese prostate cancer patients comparing them with randomly selected 109 unrelated healthy Japanese male controls who were confirmed to be residents of the same geographical area. Males could be classified using three binary Y-chromosome markers (sex-determining region Y (SRY), YAP, 47z) into four haplogroups DE, O2b(*), O2b1, and untagged group. Our results confirmed that prostate cancer incidence varies among males from different Y-chromosome lineages. Males from DE and the untagged haplogroups are at a significantly higher risk to develop prostate cancer than O2b(*) and O2b1 haplogroups (P=0.01), odds ratio 2.17 and 95% confidence interval (1.16-4.07). Males from haplogroup DE are over-represented in the patient group showing a percentage of 41.3%. The underlying possible causes of susceptibility variations of different Y lineages for such a male-specific cancer tumorigenesis are discussed. These findings explain the lower incidence of prostate cancer in Japanese and other South East Asian males than other populations. To our knowledge, this is the first reliable study examining the association between prostate cancer and Y-chromosomal haplogroups, comparing prostate cancer patients with carefully selected matched controls.
Asunto(s)
Carcinoma/epidemiología , Cromosomas Humanos Y/genética , Neoplasias de la Próstata/epidemiología , Carcinoma/clasificación , Carcinoma/genética , Genética de Población/clasificación , Genética de Población/estadística & datos numéricos , Genotipo , Haplotipos , Humanos , Incidencia , Japón/epidemiología , Masculino , Fenotipo , Neoplasias de la Próstata/clasificación , Neoplasias de la Próstata/genéticaRESUMEN
The authors evaluated whether scheduled ovarian stimulation makes it easy to perform ICSI with fresh testicular sperm. Scheduled ovarian hyperstimulation was applied for testicular sperm extraction and ICSI with fresh testicular spermatozoa. Fifteen cycles in 10 couples were included in the present study; all couples were azoospermic, 5 were obstructive, and the remaining 5 were nonobstructive. No cycles were canceled, and all oocyte retrievals were performed on the scheduled day. Testicular sperm were obtained in 14 treatment cycles (93%). The mean numbers of retrieved and injected oocytes were 9.4 and 6.4, respectively. The fertilization and cleavage rates were 47 and 91%, respectively. Embryo transfers were performed in 12 cycles except 2 cycles that had no embryos. The number of transferred embryos was 2.3. Two clinical pregnancies were obtained. This scheduled ovarian hyperstimulation was applicable for ICSI with fresh testicular sperm.
Asunto(s)
Inducción de la Ovulación , Inyecciones de Esperma Intracitoplasmáticas , Adulto , Separación Celular , Transferencia de Embrión , Femenino , Humanos , Masculino , Oligospermia , Embarazo , Espermatozoides , Testículo/citologíaRESUMEN
A novel method for sex identification, using a denaturing high-performance liquid chromatography (DHPLC) system, is described. Among many methods for identifying sex, the most popular and credible system has been the polymerase chain reaction (PCR) method, using nucleotide primer sets of the amelogenin gene, which is shared on both the X and Y chromosomes. With this conventional method, the judgment depends on detection of the size difference between the PCR products derived from the X and Y chromosomes. In this study, we adopted DHPLC to detect the difference by checking heteroduplex formation between the products, which enabled us to shorten the PCR products to 45bp and the separation time to within a period of 8min per sample. This new system may have wide applications in many different fields, such as forensic medicine, prenatal diagnosis, inbreeding of animals, and anthropology.
Asunto(s)
Proteínas del Esmalte Dental/genética , Análisis Heterodúplex , Procesos de Determinación del Sexo , Amelogenina , Cromatografía Líquida de Alta Presión/métodos , Cartilla de ADN , Femenino , Humanos , Masculino , Desnaturalización ProteicaRESUMEN
Four cases of late onset clear cell renal cell carcinoma (RCC), a case of gastric cancer, and a case of exocrine pancreatic cancer were identified in a Japanese family. In order to elucidate the underlying mechanism for tumorigenesis in this family, extensive genetic studies were performed including routine and spectral karyotyping (SKY), fluorescence in situ hybridisation (FISH), comparative genomic hybridisation (CGH), loss of heterozygosity studies (LOH), and VHL mutation analysis. A germline translocation t(1;3)(q32-q41;q13-q21) was identified by karyotyping in five members of the family including all three RCC cases tested. The translocation was refined to t(1;3)(q32;q13.3) by FISH analysis using locus specific genomic clones, and the two breakpoints were mapped to a 5 cM region in 3q13.3 and a 3.6 cM region in 1q32. Both CGH and allelotyping using microsatellite markers showed loss of the derivative chromosome 3 carrying a 1q segment in the three familial RCCs analysed. Additional chromosomal imbalances were identified by CGH, including amplifications of chromosomes 5 and 7 and loss of 8p and 9. No germline VHL mutation was found but two different somatic mutations, a splice (IVS1-2A>C) and a frameshift (726delG), were identified in two RCCs from the same patient confirming their distinct origin. Taken together, these results firmly support a three step model for tumorigenesis in this family. A constitutional translocation t(1q;3q) increased the susceptibility to loss of the derivative chromosome 3 which is then followed by somatic mutations of the RCC related tumour suppressor gene VHL located in the remaining copy of chromosome 3.
Asunto(s)
Carcinoma de Células Renales/genética , Neoplasias Renales/genética , Ligasas , Translocación Genética , Proteínas Supresoras de Tumor , Ubiquitina-Proteína Ligasas , Adenocarcinoma de Células Claras/genética , Adenocarcinoma de Células Claras/patología , Secuencia de Bases , Carcinoma de Células Renales/patología , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 3/genética , ADN/química , ADN/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Neoplasias Renales/patología , Pérdida de Heterocigocidad , Masculino , Mutación , Hibridación de Ácido Nucleico , Linaje , Proteínas/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-LindauRESUMEN
A 71-year-old man who had been treated conservatively for advanced prostate cancer with hormonal therapy presented with complaint of left flank pain. Intravenous urography demonstrated obstruction caused by a left upper ureteral calculus and leakage of contrast medium outside the renal pelvis and calyces. Left percutaneous nephrostomy was performed, and subsequent nephrostography showed extravasation into a parapelvic renal sinus cyst previously recognized on follow-up computed tomography (CT). The left ureteral calculus was treated with extracorporeal shock wave lithotripsy (ESWL), after which obstruction and extravasation disappeared. One month later, abdominal CT demonstrated no left renal nor ureteral calculi, as well as a reduction in the left renal sinus cyst. Urinary extravasation sometimes occurs as a complication of acute urinary obstruction. However, extravasation into a cyst is very rare. We have found only one case reported in the literature, so far.
Asunto(s)
Extravasación de Materiales Terapéuticos y Diagnósticos/etiología , Enfermedades Renales Quísticas/etiología , Cálculos Ureterales/complicaciones , Anciano , Extravasación de Materiales Terapéuticos y Diagnósticos/diagnóstico por imagen , Humanos , Enfermedades Renales Quísticas/diagnóstico por imagen , Litotricia , Masculino , Tomografía Computarizada por Rayos X , Cálculos Ureterales/terapiaRESUMEN
BACKGROUND: Analysis of an androgen receptor gene mutation and a bilateral laparoscopic orchiectomy were performed on a 19-year-old patient diagnosed as a case of complete testicular feminization. METHODS: DNA sequencing of an androgen receptor gene mutation and laparoscopic orchiectomy were performed. RESULTS: A novel point mutation substituting a proline residue (CCG) for a leucine residue (CTG) was observed in codon 892 of exon 8 in the hormone-binding domain of the androgen receptor gene. Bilateral intra-abdominal testes were resected uneventfully by means of laparoscopic orchiectomy. CONCLUSION: We conclude that genetic analysis of androgen receptor gene mutation is essential for diagnosis of teon and laparoscopic orchiectomy is a useful therapeutic alteration as a minimally invasive treatment.
Asunto(s)
Síndrome de Resistencia Androgénica/genética , Síndrome de Resistencia Androgénica/cirugía , Orquiectomía , Receptores Androgénicos/genética , Adulto , Sustitución de Aminoácidos , Análisis Mutacional de ADN , Femenino , Humanos , Cariotipificación , Laparoscopía , Masculino , Mutación PuntualRESUMEN
BACKGROUND: Pharmaco-dynamic infusion cavernosometry and cavernosography (pharmaco-DICC) is essential for diagnosis of venogenic impotence, however it is so invasive. On the other hand, color Doppler ultrasonography is non-invasive and has become one of the useful diagnostic methods for arteriogenic impotence. And there are some reports evaluating whether venogenic impotence can be diagnosed using color Doppler ultrasonography. In this study, we investigated whether the resistance index (RI) could be useful for screening for venogenic impotence. METHODS: We performed color Doppler ultrasonography in 49 patients who had shown negative responses to an intracavernous injection of 20 mcg of prostaglandin E1 (PGE1). They previously underwent pharmaco-DICC and were diagnosed venogenic impotent when the maintenance flow rate was equal to or more than 20 ml/min. In 49 patients, 17 patients had DICC normality, while 32 patients had corporal leakages. After an intracavernous injection of 20 mcg of PGE1, we performed color Doppler ultrasonography, and measured peak systolic velocity (PSV) and end diastolic velocity (EDV) in the cavernous artery. RI was calculated as follows. RI = (PSV-EDV)/PSV We adopted the RI value near to 1 as the case's RI from two RI values of bilateral cavernous arteries, and compared RI values with the results of pharmaco-DICC. RESULTS: RI range in patients with normal DICC results was 0.895 +/- 0.092 (0.70-1.00), while RI range in patients with corporal leakages was 0.742 +/- 0.095 (0.55-0.97). RI values in patients with corporal leakages were significantly lower than those in patients with normal DICC results although there was some overlap in each group. From receiver-operating-characteristic curve (ROC curve) of the correlation between sensitivity and specificity at various RI values compared with DICC results, the RI cut off values were set up at 0.75 and 0.90, and classified the patients into 3 group according to their RI cut off values. In 10 patients with 0.9 < RI, 9 patients (90%) had DICC normality. In 17 patients with 0.75 < RI < or = 0.9, 7 patients had DICC normality while 10 patients had corporal leakages. In 22 patients with RI < or = 0.75, 21 patients (95.5%) had corporal leakages. CONCLUSION: We consider without carrying out pharmaco-DICC that patients with 0.9 < RI were not venogenic impotent, while patients with RI < or = 0.75 had corporal leakages. Pharmaco-DICC will remain essential only in patients with 0.75 < RI < or = 0.9.
Asunto(s)
Impotencia Vasculogénica/diagnóstico por imagen , Pene/irrigación sanguínea , Ultrasonografía Doppler en Color , Resistencia Vascular , Adulto , Anciano , Humanos , Impotencia Vasculogénica/fisiopatología , Masculino , Persona de Mediana Edad , Pene/diagnóstico por imagenRESUMEN
BACKGROUND: Records of nocturnal penile tumescence are still important test and necessary to distinguish organic impotence from psycogenic impotence. METHODS: We developed the nocturnal penile tumescence recorder with a disposab indiumgallium straingauge, and we examined its clinical usefulness for volunteers with normal erectile function. RESULTS: The results were that the indium-gallium straingauge had almost the same resistance change with extension, and that it showed almost the same resistance value at respective circumferences with consecutively ten times measurements. Only two of thirty-nine volunteers experienced the snapping of the indium-gallium strain-gauge. None of the volunteers complained of discomfort during measurements. The nocturnal penile tumescence of five volunteers were recorded with a conventional mercuric straingauge and a newly developed indium-gallium straingauge simultaneously, and there were no significant differences between the results of the two materials. This recorder is very simple to manage, and the softwares for preservation of data and making graph are also simple. This new straingauge is clean and dose not require maintenance because of the disposable use. CONCLUSION: We concluded that this recorder system was clinically useful for t examination of nocturnal penile tumescence.
Asunto(s)
Disfunción Eréctil/diagnóstico , Monitoreo Fisiológico/instrumentación , Erección Peniana/fisiología , Ritmo Circadiano , Electrodiagnóstico/instrumentación , Disfunción Eréctil/psicología , Galio , Humanos , Indio , MasculinoRESUMEN
Penile Doppler ultrasonography is widely accepted as an essential examination in the diagnosis of impotence. However, measurement blood flow velocity using Doppler ultrasonography may be subject to some errors. We performed color Doppler ultrasonography in 63 patients with normal penile vascular function as diagnosed using positive responses to intracavernous pharmacological stimulation. We compared the Doppler measurement results of the 126 cavernous arteries and the ultrasonic beam angles. We used a Hitachi EUB 515, a sonographic probe of 7.5 MHz, a sampling width of 0.8 mm, a sampling depth of 1 mm, and a wall motion filter was not used. Ultrasonic beam angles were 5 to 77 degrees. The mean peak systolic velocity and end diastolic velocity values were 40. 0 cm/s and 3.9 cm/sec, respectively. The peak systolic velocity and end diastolic velocity values remained stable regardless of the ultrasonic beam angles (Kruskal-Wallis test, p = 0.56, p = 0.70). However, the variance of values became greater when the ultrasonic beam angles was larger than 55 degrees in the case of peak systolic velocity (F test, p < 0.05) and 50 degrees in the case of end diastolic velocity (F test, p < 0.05), indicating a reduction in reliability. Resistance index variance was significantly higher when ultrasonic beam angle exceeds 50 degrees (F test, p < 0.05). We believe that we should accept only those cavernous artery peak systolic velocity measurements as reliable when the ultrasound beam angle is less than 55 degrees.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Pene/irrigación sanguínea , Pene/diagnóstico por imagen , Ultrasonografía Doppler en Color , Ultrasonografía Intervencional , Adulto , Anciano , Velocidad del Flujo Sanguíneo , Disfunción Eréctil/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Erección Peniana , Flujo Sanguíneo RegionalRESUMEN
In a 35 year old arteriogenic impotent patient without a history of hypertension, arteriosclerotic disease, or diabetes mellitus, the corpus cavernosum of the penis was revascularized using Hauri's method. Before surgery, erection after the intra-cavernous injection of 20 micrograms of prostaglandin E1 was very weak. In a color ultrasonography the peak systolic velocity of the cavernous arteries was recorded as being only 18 cm/sec. Furthermore, no artery except the right dorsal artery was evident even with a digital subtraction angiography. Accordingly he was diagnosed as having arteriogenic impotence, and we carried out the corpus cavernosum revascularization using Hauri's method under microscopic magnification. The dorsal artery and the deep dorsal vein were anastomosed side-to-side, and the hypogastric artery and dorsal artery were anastomosed end-to-side. After the revascularization surgery, the peak systolic velocity of cavernous arteries returned to normal (53 cm/sec), and the penis showed complete erection after an intracavernous injection of 20 micrograms of prostaglandin E1. Before surgery this patient had no experienced sexual intercourse, but he could achieve full sexual intercourse 2 weeks after the surgery. His erectile ability has been maintained for 4 months since the surgery. This is the 1st case of arteriogenic impotence treated using Hauri's method in Japan.
Asunto(s)
Arteriopatías Oclusivas/cirugía , Disfunción Eréctil/cirugía , Pene/irrigación sanguínea , Procedimientos Quirúrgicos Vasculares , Adulto , Humanos , Masculino , Pene/cirugía , Procedimientos Quirúrgicos Vasculares/métodosRESUMEN
Non-adrenergic non-cholinergic nerves (NANC) are thought to be important in the relaxation of corpus cavernosum for erectile function. On the other hand, it has been shown that nitric oxide (NO) is synthesized from L-arginine and released by the endothelium of blood vessels and accounts for the activity of endothelium-derived relaxing factor (EDRF). We studied whether electrical field stimulation (EFS) of isolated strips of human corpus cavernosum released NO and whether it could act as a NANC neurotransmitter. Human penile tissue specimens were mounted in an organ bath and the isometric tension recorded. EFS was applied to precontracted strips between two parallel platinum electrodes. Relaxation induced by EFS was not influenced by guanethidine or atropine, but was markedly inhibited by NG-nitro-L-arginine which is an analog of L-arginine that inhibits the conversion of L-arginine to NO, and hemoglobin which is an agent that inhibits the biological actions of NO. Methylene blue which is an inhibitor of cytosolic guanylate cyclase also reduced the relaxation of EFS, but not completely. The inhibitory effect of NG-nitro-L-arginine was reversed by addition of excess L-arginine. Exogenous NO relaxed human corpus cavernosum. The relaxation was only a transient response and concentration-dependent. The profile of responses is similar to that evoked by EFS. Our data clearly demonstrate the release of NO during EFS and the function of NO as a NANC neurotransmitter. Human penile erection may be mediated by NO generated in response to NANC neurotransmission.