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1.
Hum Reprod ; 39(5): 1131-1140, 2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38511217

RESUMEN

STUDY QUESTION: Do copy-number variations (CNVs) in the azoospermia factor (AZF) regions and monogenic mutations play a major role in the development of isolated (non-syndromic) non-obstructive azoospermia (NOA) in Japanese men with a normal 46, XY karyotype? SUMMARY ANSWER: Deleterious CNVs in the AZF regions and damaging sequence variants in eight genes likely constitute at least 8% and approximately 8% of the genetic causes, respectively, while variants in other genes play only a minor role. WHAT IS KNOWN ALREADY: Sex chromosomal abnormalities, AZF-linked microdeletions, and monogenic mutations have been implicated in isolated NOA. More than 160 genes have been reported as causative/susceptibility/candidate genes for NOA. STUDY DESIGN, SIZE, DURATION: Systematic molecular analyses were conducted for 115 patients with isolated NOA and a normal 46, XY karyotype, who visited our hospital between 2017 and 2021. PARTICIPANTS/MATERIALS, SETTING, METHODS: We studied 115 unrelated Japanese patients. AZF-linked CNVs were examined using sequence-tagged PCR and multiplex ligation-dependent probe amplification, and nucleotide variants were screened using whole exome sequencing (WES). An optimized sequence kernel association test (SKAT-O), a gene-based association study using WES data, was performed to identify novel disease-associated genes in the genome. The results were compared to those of previous studies and our in-house control data. MAIN RESULTS AND THE ROLE OF CHANCE: Thirteen types of AZF-linked CNVs, including the hitherto unreported gr/gr triplication and partial AZFb deletion, were identified in 63 (54.8%) cases. When the gr/gr deletion, a common polymorphism in Japan, was excluded from data analyses, the total frequency of CNVs was 23/75 (30.7%). This frequency is higher than that of the reference data in Japan and China (11.1% and 14.7%, respectively). Known NOA-causative AZF-linked CNVs were found in nine (7.8%) cases. Rare damaging variants in known causative genes (DMRT1, PLK4, SYCP2, TEX11, and USP26) and hemizygous/multiple-heterozygous damaging variants in known spermatogenesis-associated genes (TAF7L, DNAH2, and DNAH17) were identified in nine cases (7.8% in total). Some patients carried rare damaging variants in multiple genes. SKAT-O detected no genes whose rare damaging variants were significantly accumulated in the patient group. LIMITATIONS, REASONS FOR CAUTION: The number of participants was relatively small, and the clinical information of each patient was fragmentary. Moreover, the pathogenicity of identified variants was assessed only by in silico analyses. WIDER IMPLICATIONS OF THE FINDINGS: This study showed that various AZF-linked CNVs are present in more than half of Japanese NOA patients. These results broadened the structural variations of AZF-linked CNVs, which should be considered for the molecular diagnosis of spermatogenic failure. Furthermore, the results of this study highlight the etiological heterogeneity and possible oligogenicity of isolated NOA. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by Grants from the Japan Society for the Promotion of Science (21K19283 and 21H0246), the Japan Agency for Medical Research and Development (22ek0109464h0003), the National Center for Child Health and Development, the Canon Foundation, the Japan Endocrine Society, and the Takeda Science Foundation. The results of this study were based on samples and patient data obtained from the International Center for Reproductive Medicine, Dokkyo Medical University Saitama Medical Center, Koshigaya, Japan. The authors have no conflicts of interest to disclose. TRIAL REGISTRATION NUMBER: N/A.


Asunto(s)
Azoospermia , Proteínas de Ciclo Celular , Variaciones en el Número de Copia de ADN , Humanos , Azoospermia/genética , Masculino , Secuenciación del Exoma , Adulto , Mutación , Japón , Cariotipificación
2.
Emerg Infect Dis ; 29(11): 2210-2217, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37877502

RESUMEN

Neisseria meningitidis causes invasive meningococcal diseases and has also been identified as a causative agent of sexually transmitted infections, including urethritis. Unencapsulated sequence type 11 meningococci containing the gonococcal aniA-norB locus and belonging to the United States N. meningitidis urethritis clade (US_NmUC) are causative agents of urethral infections in the United States, predominantly among men who have sex with men. We identified 2 subtypes of unencapsulated sequence type 11 meningococci in Japan that were phylogenetically close to US_NmUC, designated as the Japan N. meningitidis urethritis clade (J_NmUC). The subtypes were characterized by PCR, serologic testing, and whole-genome sequencing. Our study suggests that an ancestor of US_NmUC and J_NmUS urethritis-associated meningococci is disseminated worldwide. Global monitoring of urethritis-associated N. meningitidis isolates should be performed to further characterize microbiologic and epidemiologic characteristics of urethritis clade meningococci.


Asunto(s)
Infecciones Meningocócicas , Neisseria meningitidis , Minorías Sexuales y de Género , Uretritis , Masculino , Humanos , Estados Unidos/epidemiología , Neisseria meningitidis/genética , Uretritis/epidemiología , Uretritis/microbiología , Homosexualidad Masculina , Japón/epidemiología , Infecciones Meningocócicas/epidemiología , Infecciones Meningocócicas/microbiología
3.
J Urol ; 203(1): 83-91, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31430244

RESUMEN

PURPOSE: The PROPHET (Prostate Cancer: Prostate Health Index Trial) is a prospective study to clarify the diagnostic impact of laboratory based and prostate volume adjusted p2PSA ([-2] proenzyme prostate specific antigen) related indexes on prostate cancer and clinically significant prostate cancer with prostate specific antigen less than 10 ng/ml. MATERIALS AND METHODS: Between April 2015 and March 2017, 421 men 50 to 79 years old in the prostate specific antigen range above age specific cutoffs and below 10 ng/ml were registered in the PROPHET. We investigated the diagnostic impacts of various clinical laboratory based free prostate specific antigen related and p2PSA related indexes on any grade and high Gleason grade group prostate cancer. RESULTS: Of the 363 eligible participants 179, 141 and 80 were diagnosed with any grade, and Gleason Grade Group 2-5 and 3-5 prostate cancer, respectively. The AUC-ROCs distinguishing nonprostate cancer vs prostate cancer, nonprostate cancer plus low Gleason Grade Group and low volume vs remaining prostate cancer with a higher Gleason Grade group or a higher volume on the PHI (Prostate Health Index) were significantly superior to the AUC-ROCs of prostate specific antigen and free-to-total prostate specific antigen. At 90% sensitivity in all investigated p2PSA related indexes the false-positive rate was superior to that of prostate specific antigen and free-to-total prostate specific antigen in any group comparison in terms of the Gleason Grade Group and positive biopsy cores. In 35% to 42% of men without prostate cancer and/or those with less aggressive prostate cancer the PHI would avoid unnecessary biopsy. CONCLUSIONS: Laboratory based p2PSA related indexes were significantly superior for detecting clinically significant prostate cancer compared to free-to-total prostate specific antigen. The indexes those would avoid up to 42% of prostate biopsies in men without aggressive cancer while maintaining 90% sensitivity.


Asunto(s)
Biomarcadores de Tumor/sangre , Antígeno Prostático Específico/sangre , Neoplasias de la Próstata/diagnóstico , Anciano , Biopsia , Diagnóstico Diferencial , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Estudios Prospectivos , Neoplasias de la Próstata/sangre , Neoplasias de la Próstata/patología , Precursores de Proteínas
4.
Reprod Med Biol ; 19(2): 178-181, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32273824

RESUMEN

PURPOSE: Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY karyotype in a few young men with spermatogenic failure. The present study aimed to clarify the frequency of cryptic mLOY in reproductive-aged men with spermatogenic failure. METHODS: We studied 198 men at ages 24-55 years who presented with etiology-unknown non-obstructive azoospermia. Prior this study, these patients underwent G-banding analysis for 20 leukocytes and were found to have 46,XY karyotype. We analyzed copy numbers of chromosome Y in blood cells by using semi-quantitative multiplex PCR for AMELY/AMELX, array-based comparative genomic hybridization (CGH) for the AMELY locus, and droplet digital PCR for SRY, USP9Y, and UTY. RESULTS: Multiplex PCR showed borderline low AMELY/AMELX ratios in three patients. However, for the three patients, CGH excluded deletion of the AMELY locus, and droplet digital PCR suggested preserved copy numbers of all tested loci. CONCLUSION: This study highlights the rarity of leukocyte mLOY in reproductive-aged men with spermatogenic failure. In addition, our data imply that standard karyotyping is sufficient to screen early onset mLOY.

5.
Reprod Med Biol ; 19(4): 372-377, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33071639

RESUMEN

PURPOSE: Cryptorchidism is one of the most common causes of non-obstructive azoospermia (NOA) in adulthood. Even if early orchidopexy is performed to preserve fertility potential, some patients still suffer from azoospermia. Fertility potential is significantly lower in bilateral than unilateral cryptorchidism. The aims of this study were to identify clinical parameters that predict the likely success of sperm recovery by microscopic testicular sperm extraction (micro-TESE) and also the likely outcome of intracytoplasmic sperm injection using sperm from NOA patients who submitted to bilateral orchidopexy. METHODS: Fifty-two NOA patients with a history of bilateral cryptorchidism underwent micro-TESE. The following clinical parameters were evaluated as predictive factors for successful sperm recovery: age at micro-TESE; age at orchidopexy; period from orchidopexy to micro-TESE; luteinizing hormone (LH); follicle-stimulating hormone (FSH); testosterone; average testicular volume; and body mass index. RESULTS: In the successful sperm retrieval group, average testicular volume was significantly greater, while serum LH and FSH, and body mass index were significantly lower. In a multivariate analysis, average testicular volume was positively correlated with successful sperm recovery. CONCLUSION: Our results indicate that testicular volume in NOA patients with bilateral cryptorchidism is a predictor for successful sperm recovery.

6.
Hum Mutat ; 39(6): 830-833, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29570232

RESUMEN

STX2 encodes a sulfoglycolipid transporter. Although Stx2 nullizygosity is known to cause spermatogenic failure in mice, STX2 mutations have not been identified in humans. Here, we performed STX2 mutation analysis for 131 Japanese men clinically diagnosed with nonobstructive azoospermia. As a result, we identified a homozygous frameshift mutation [c.8_12delACCGG, p.(Asp3Alafs*8)] in one patient. The mutation-positive patient exhibited loss-of-heterozygosity for 58.4 Mb genomic regions involving STX2, suggesting possible parental consanguinity. The patient showed azoospermia, relatively small testes, and a mildly elevated follicle stimulating hormone level, but no additional clinical features. Testicular histology of the patient showed universal maturation arrest and multinucleated spermatocytes, which have also been observed in mice lacking Stx2. PCR-based cDNA screening revealed wildtype STX2 expression in various tissues including the testis. Our results indicate that STX2 nullizygosity results in nonsyndromic maturation arrest with multinucleated spermatocytes, and accounts for a small fraction of cases with nonobstructive azoospermia.


Asunto(s)
Azoospermia/genética , Espermatogénesis/genética , Sintaxina 1/genética , Adulto , Animales , Azoospermia/patología , Humanos , Pérdida de Heterocigocidad/genética , Masculino , Ratones , Mutación , Testículo/crecimiento & desarrollo , Testículo/metabolismo
7.
Hinyokika Kiyo ; 64(11): 451-453, 2018 Nov.
Artículo en Japonés | MEDLINE | ID: mdl-30543745

RESUMEN

We describe the first case of a 25-year-old patient with gender identity disorder (GID) who underwent cryopreservation of sperm prior to male-to-female (MTF) sex reassignment surgery in Japan. The patient wanted to freeze sperm to keep open the option of conceiving a child in the future. The ethics committee of our institution discussed the case and officially approved cryopreservation of sperm before sex reassignment surgery. Compared with foreign countries, sperm cryopreservation of GID is not recognized and guidelines have yet been published in Japan. Here, we report sperm cryopreservation for MTF before sex reassignment surgery.


Asunto(s)
Disforia de Género , Preservación de Semen , Cirugía de Reasignación de Sexo , Transexualidad , Adulto , Criopreservación , Femenino , Identidad de Género , Humanos , Japón , Masculino , Espermatozoides
8.
Int J Clin Oncol ; 21(6): 1167-1171, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27306218

RESUMEN

BACKGROUND: Combinations of surgery, radiation therapy, and chemotherapy can achieve high remission rates in patients with cancer, but these treatments can have damaging effects on spermatogenesis. In particular, cytotoxic chemotherapy may lead to irreversible spermatogenic dysfunction. Microdissection testicular sperm extraction (micro-TESE) is the only method that can address infertility in cancer survivors with persistent postchemotherapy azoospermia. METHODS: We included 66 Japanese patients with postchemotherapy azoospermia who underwent micro-TESE for sperm retrieval in this analysis. Age, oncology data, hormone profiles, and outcomes of micro-TESE and subsequent intracytoplasmic sperm injections (ICSIs) were reviewed. RESULTS: The common disease in our patients was testicular cancer (21 patients), followed by acute lymphoblastic leukemia and Hodgkin's lymphoma (nine patients). In this cohort of 66 patients, sperm was successfully retrieved in 31 patients (47 %), and clinical pregnancy occurred in 23 cases (35 %). The live birth rate was 27 %. No significant differences in sperm retrieval, clinical pregnancy, and live birth rates were seen between testicular cancer, Hodgkin's lymphoma, non-Hodgkin's lymphoma, acute lymphoblastic leukemia, acute myeloid leukemia, or sarcoma cases. Multiple logistic regression analysis showed that the chance of retrieving sperm during micro-TESE could not be predicted by any variable. CONCLUSIONS: Cryopreservation of sperm should be offered before any gonadotoxic chemotherapy takes place. However, micro-TESE and subsequent ICSI could be effective treatment options for patients with persistent postchemotherapy azoospermia whose sperm were not frozen before therapy. Our results suggest that micro-TESE-ICSI could benefit 27 % of such Japanese patients.


Asunto(s)
Antineoplásicos , Azoospermia , Criopreservación , Infertilidad Masculina , Neoplasias/tratamiento farmacológico , Inyecciones de Esperma Intracitoplasmáticas/métodos , Recuperación de la Esperma , Adulto , Antineoplásicos/efectos adversos , Antineoplásicos/uso terapéutico , Azoospermia/inducido químicamente , Azoospermia/complicaciones , Azoospermia/diagnóstico , Azoospermia/epidemiología , Criopreservación/métodos , Criopreservación/estadística & datos numéricos , Humanos , Infertilidad Masculina/diagnóstico , Infertilidad Masculina/etiología , Infertilidad Masculina/terapia , Japón/epidemiología , Masculino , Microdisección/métodos , Persona de Mediana Edad , Neoplasias/clasificación , Neoplasias/epidemiología , Estudios Retrospectivos , Resultado del Tratamiento
9.
Int J Urol ; 23(12): 1024-1027, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27766729

RESUMEN

OBJECTIVES: To present a single-center experience with testicular sperm extraction and intracytoplasmic sperm injection for fathering biological children in patients with ejaculatory dysfunction as a result of spinal cord injury. METHODS: Testicular sperm extraction was carried out in 52 male patients with ejaculatory dysfunction as a result of spinal cord injury. We investigated sperm retrieval rates and pregnancy rates from medical records. Data on age, testicular volume, hormonal status (luteinizing hormone, follicle stimulating hormone and testosterone), and time since spinal cord injury were obtained and analyzed to detect potential associations with the presence of spermatogenesis. RESULTS: Testicular sperm retrieval was achieved in 42 of 52 patients (80.7%). Intracytoplasmic sperm injection was carried out for 37 patients, and pregnancy was achieved in 32 (86.5%). The take-home baby rate was 70.2%. In the group with successful sperm extraction, testicular volume was significantly greater, time from spinal cord injury to extraction was significantly shorter, and serum luteinizing hormone and follicle-stimulating hormone levels were significantly lower. Serum follicle-stimulating hormone levels had the strongest association with feasibility of sperm retrieval by testicular sperm extraction. Furthermore, the sperm retrieval rates of patients injured within the preceding 12 years were significantly better than those injured longer before treatment (P = 0.045). CONCLUSIONS: Testicular sperm extraction and intracytoplasmic sperm injection seem to provide favorable results for patients with ejaculatory dysfunction as a result of spinal cord injury. However, early testicular sperm extraction is recommended, because sperm retrieval becomes more difficult with time from spinal cord injury.


Asunto(s)
Inyecciones de Esperma Intracitoplasmáticas , Recuperación de la Esperma , Traumatismos de la Médula Espinal , Femenino , Humanos , Masculino , Embarazo , Espermatozoides , Testículo
10.
Clin Calcium ; 26(7): 1009-16, 2016 Jul.
Artículo en Japonés | MEDLINE | ID: mdl-27346312

RESUMEN

Hypogonadism is classified into two major clinical entities, namely early-onset hypogonadism and late-onset hypogonadism. The former is characterized by the malfunction of hypothalamo-pituitary-gonadal(testicular)axis or by the primary hypofunction of testes(e.g. Klinefelter's syndrome). The latter is summarized as LOH syndrome which is attributed to the dropped level of bioavailable testosterone. In these diseases testosterone is the key molecule which may cause various symptoms relating not only to physical health but also to mental or psychologic health. In this review issues concerning bone health in these disease are described.


Asunto(s)
Hipogonadismo , Osteoporosis , Edad de Inicio , Densidad Ósea , Predisposición Genética a la Enfermedad , Humanos , Hipogonadismo/tratamiento farmacológico , Hipogonadismo/metabolismo , Masculino , Osteoporosis/tratamiento farmacológico , Osteoporosis/metabolismo , Osteoporosis/fisiopatología , Testosterona/metabolismo , Testosterona/uso terapéutico
11.
J Hum Genet ; 60(3): 127-31, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25566757

RESUMEN

Although copy-number variations (CNVs) in Y-chromosomal azoospermia factor (AZF) regions have been associated with the risk of spermatogenic failure (SF), the precise frequency, genomic basis and clinical consequences of these CNVs remain unclear. Here we performed multiplex ligation-dependent probe amplification (MLPA) analysis of 56 Japanese SF patients and 65 control individuals. We compared the results of MLPA with those of conventional sequence-tagged site PCR analyses. Eleven simple and complex CNVs, including three hitherto unreported variations, were identified by MLPA. Seven of the 11 CNVs were undetectable by conventional analyses. CNVs were widely distributed in AZF regions and shared by ~60% of the patients and ~40% of the controls. Most breakpoints resided within locus-specific repeats. The majority of CNVs, including the most common gr/gr deletion, were identified in the patient and control groups at similar frequencies, whereas simple duplications were observed exclusively in the patient group. The results imply that AZF-linked CNVs are more frequent and heterogeneous than previously reported. Non-allelic homologous recombination likely underlies these CNVs. Our data confirm the functional neutrality of the gr/gr deletion in the Japanese population. We also found a possible association between AZF-linked simple duplications and SF, which needs to be evaluated in future studies.


Asunto(s)
Azoospermia/genética , Cromosomas Humanos Y/genética , Variaciones en el Número de Copia de ADN , Reacción en Cadena de la Polimerasa Multiplex/métodos , Deleción Cromosómica , Duplicación Cromosómica , Humanos , Masculino , Modelos Genéticos , Oligospermia/genética , Recombinación Genética , Factores de Riesgo , Espermatogénesis/genética
12.
Int J Urol ; 22(4): 385-8, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25631165

RESUMEN

OBJECTIVES: To investigate factors influencing the degree of difficulty in finding and maintaining an appropriate plane on the surgical capsule of the prostate during holmium laser enucleation of the prostate. METHODS: A total of 116 men undergoing holmium laser enucleation of the prostate for benign prostate hyperplasia between January 2010 and September 2013 at our hospital were included in this analysis. The degree of difficulty in finding and maintaining the plane of the surgical capsule of the prostate was retrospectively evaluated and graded by using video-based analysis according to newly defined criteria (grade I, least difficult; grade IV, most difficult). Factors influencing the degree of difficulty were investigated. RESULTS: Video analysis was possible in 99 of 116 patients. Decapsulation difficulty in decapsulation was deemed as being grade I in 32 patients, grade II in 31 patients, grade III in 20 patients and grade IV in 16 patients. Preoperative dutasteride therapy was the only factor associated with an increasing level of difficulty in decapsulation during holmium laser enucleation of the prostate. CONCLUSIONS: Although preoperative dutasteride therapy effectively reduces intraoperative blood loss, surgeons with limited experience should be careful with the use of dutasteride, because its administration might increase surgical difficulty during holmium laser enucleation of the prostate.


Asunto(s)
Inhibidores de 5-alfa-Reductasa/efectos adversos , Dutasterida/efectos adversos , Láseres de Estado Sólido/uso terapéutico , Hiperplasia Prostática/tratamiento farmacológico , Hiperplasia Prostática/cirugía , Anciano , Disección , Humanos , Masculino , Cuidados Preoperatorios , Calidad de Vida , Estudios Retrospectivos , Urodinámica , Grabación en Video
13.
Int J Urol ; 22(4): 394-9, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25754455

RESUMEN

OBJECTIVES: To compare the outcomes of the Politano-Leadbetter and Cohen techniques in laparoscopic pneumovesicum approach for ureteral reimplantation. METHODS: We retrospectively reviewed the medical records of 24 patients who underwent transvesicoscopic ureteral reimplantation during the period from 2007 to 2014. The patients were treated with either the Cohen or Politano-Leadbetter technique. Operative duration, duration of hospital stay, and success and complication rates were compared. RESULTS: Operative duration was 1 h longer for the Politano-Leadbetter technique than for the Cohen technique (P < 0.05). Foley catheters were removed 2-3 days after the procedures. The mean hospital stay was 3.6 days. Reflux completely resolved in 21 patients (35 ureters, 94.6%), but not in two patients (2 ureters). There was no difference in the success rate or durations of catheterization or hospital stay between patients treated with the Politano-Leadbetter technique and those treated with the Cohen technique. CONCLUSIONS: The Politano-Leadbetter and Cohen techniques are both reliable for transvesicoscopic ureteral reimplantation. Despite a longer operative time, because of the higher surgical complexity, the Politano-Leadbetter ureteral reimplantation offers important physiological advantages over other techniques.


Asunto(s)
Laparoscopía/métodos , Reimplantación/métodos , Uréter/cirugía , Reflujo Vesicoureteral/cirugía , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Laparoscopía/efectos adversos , Tiempo de Internación , Tempo Operativo , Reimplantación/efectos adversos , Estudios Retrospectivos , Resultado del Tratamiento , Vejiga Urinaria , Cateterismo Urinario , Adulto Joven
14.
Arch Ital Urol Androl ; 87(3): 190-3, 2015 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-26428638

RESUMEN

We evaluated the effectiveness of antioxidant co-supplementation therapy using Larginine and Pycnogenol(®) in Japanese men with oligoasthenozoospermia and mild erectile dysfunction (ED). A total of forty-seven adult males with oligoasthenoteratozoospermia syndrome (OAT) were eligible for enrollment. The effectiveness of supplementation with a combination of L-arginine 690 mg and French maritime pine bark extract (Pycnogenol(®)) 60mg for OAT and ED was investigated. The sperm concentration was enhanced significantly after treatment 2 and 4 months (11.79 ± 9.86 to 21.22 ± 28.17 and 20.15 ± 23.99 × 106/ml). Significant improvements in the International Index of Erectile Function (IIEF) were observed in the total score of IIEF (57.69 ± 11.04 to 59.43 ± 12.57) and domain of Orgasmic Function (9.01 ± 1.92 to 9.34 ± 1.66) after 4 months of treatment. L-arginine acts to increase the production of nitric oxide and Pycnogenol(®) activates the endothelial nitric oxide synthase and it is a potent antioxidant and inhibitor of inducible nitric oxide synthase. This study suggests that the combination of Pycnogenol(®) and L-arginine (Edicare(®)) is helpful for infertile men to ameliorate simultaneously quality of sperms as well as erectile functions.


Asunto(s)
Antioxidantes/uso terapéutico , Arginina/uso terapéutico , Astenozoospermia/tratamiento farmacológico , Disfunción Eréctil/tratamiento farmacológico , Flavonoides/uso terapéutico , Espermatozoides/efectos de los fármacos , Adulto , Combinación de Medicamentos , Humanos , Masculino , Persona de Mediana Edad , Extractos Vegetales/uso terapéutico , Resultado del Tratamiento
15.
Nihon Hinyokika Gakkai Zasshi ; 106(2): 132-6, 2015 Apr.
Artículo en Japonés | MEDLINE | ID: mdl-26415366

RESUMEN

A 71-year-old man was referred to our department due to inflammation in the right scrotum. A tumor in the right spermatic cord was suspected on palpation, and abdominal computed tomography revealed a 4-cm mass in the tail of the pancreas and a low-density lesion in the liver segment 6. In addition, the patient's serum level of CA19-9 was high, at 135.7 U/mi. We referred the patient to our institution's Department of Gastroenterology, where he was diagnosed as having a liver metastasis from pancreatic cancer. Despite three courses of gemcitabine and erlotinib combination therapy for pancreatic cancer, his serum level of CA19-9 increased to 744.0 U/m, indicating no response to chemotherapy. Because uncontrollable pain developed in the right scrotum and right inguinal area during the course of treatment, inguinal orchiectomy was performed for pain management and pathological diagnosis. Careful examination revealed a hard, whitish tumor occupying the right spermatic cord and extending from the epididymis to the internal inguinal ring. Because a palpable mass in the peritoneum near the internal inguinal ring was detected, part of the peritoneum was resected concurrently. Pathological findings were remarkable with spermatic cord metastasis and peritoneal dissemination from pancreatic cancer. Pain subsided postoperatively and no analgesics were needed. Pancreatic cancer accompanied by spermatic cord metastasis and peritoneal dissemination is extremely rare. Surgical resection in the present case provided effective treatment of the intractable pain due to spermatic cord metastasis. To the best of our knowledge, this is only the 14th case reported in Japan of spermatic cord metastasis from pancreatic cancer as a primary cancer.


Asunto(s)
Neoplasias de los Genitales Masculinos/cirugía , Dolor/etiología , Neoplasias Pancreáticas/patología , Cordón Espermático/patología , Anciano , Neoplasias de los Genitales Masculinos/secundario , Humanos , Imagen por Resonancia Magnética , Masculino , Imagen Multimodal , Orquiectomía , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
16.
Cytogenet Genome Res ; 144(4): 285-9, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25765000

RESUMEN

Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. In this study, we identified a hitherto unreported microduplication in the AZFa region in a Japanese male individual. The 629,812-bp duplication contained 22 of 46 exons of USP9Y, encoding the putative fine tuner of spermatogenesis, together with all exons of 3 other genes/pseudogenes. The breakpoints of the duplication resided in the DNA/TcMar-Tigger repeat and nonrepeat sequences, respectively, and were associated with a 2-bp microhomology, but not with short nucleotide stretches. The breakpoint-flanking regions were not enriched with GC content, palindromes, or noncanonical DNA structures. Semen analysis of the individual revealed a normal sperm concentration and mildly reduced sperm motility. The paternal DNA sample of the individual was not available for genetic analysis. The results indicate that CNVs in AZF regions can be generated by microhomology-mediated break-induced replication in the absence of known rearrangement-inducing DNA features. AZFa-linked microduplications likely permit production of a normal amount of sperm, although the precise clinical consequences of these CNVs await further investigation.


Asunto(s)
Astenozoospermia/genética , Cromosomas Humanos Y/genética , Ubiquitina Tiolesterasa/genética , Adulto , Astenozoospermia/patología , Puntos de Rotura del Cromosoma , Variaciones en el Número de Copia de ADN , Duplicación de Gen , Humanos , Masculino , Antígenos de Histocompatibilidad Menor , Seudogenes
17.
BMC Infect Dis ; 14: 43, 2014 Jan 27.
Artículo en Inglés | MEDLINE | ID: mdl-24468054

RESUMEN

BACKGROUND: Oropharyngeal squamous cell carcinoma (OSCC) has shown a gradual increase in male predominance due to the increasing incidence of human papillomavirus (HPV)-associated OSCC. However, the mode of HPV transmission to the oral cavity is poorly understood, and little is known about the epidemiology of oral HPV infection in men. The prevalence rates of HPV, Neisseria gonorrhoeae, Chlamydia trachomatis, Mycoplasma spp., and Ureaplasma spp. were compared in the oropharynx (oral cavity) and urine of male Japanese patients attending a sexually transmitted disease clinic. METHODS: The study population consisted of 213 men aged 16 - 70 years old (mean: 34.4 years old). Oropharyngeal gargles and urine were collected, and sedimented cells were preserved in liquid-based cytology solution. After DNA extraction, ß-globin and infectious organisms were analyzed by a PCR-based method. The HPV genotype was determined by HPV GenoArray test. RESULTS: ß-Globin was positive in 100% and 97.7% of oral and urine samples, respectively. HPV detection rates were 18.8% and 22.1% in oral and urine samples, respectively, suggesting that the prevalence of HPV infection in the oral cavity was similar to that in the urinary tract. N. gonorrhoeae was more prevalent in oral (15.6%) than urine samples (9.1%), whereas C. trachomatis was detected more frequently in urine (15.9%) than oral samples (4.2%). The detection rates of M. genitalium, M. hominis, and Ureaplasma spp. were 5.2%, 10.3%, and 16.0% in oral samples, and 7.7%, 6.3%, and 19.2% in urine, respectively. There were no significant differences in the detection rates of Mycoplasma spp. and Ureaplasma spp. between anatomical locations. The distribution of HPV types were similar in oral and urine samples, and HPV16 was the most common type. The majority of men with HPV infection in both the oral cavity and urine had concordant oral and urinary HPV infection. The presence of urinary HPV infection was an independent risk factor of oral HPV infection, with an odds ratio of 3.39 (95% CI: 1.49 - 7.71), whereas oral gonococcal infection was inversely correlated with oral HPV infection (odds ratio: 0.096; 95% CI: 0.01 - 0.77). CONCLUSIONS: Oral HPV infection commonly occurs in sexually active men, and is significantly correlated with urinary HPV infection.


Asunto(s)
Orofaringe/virología , Papillomaviridae/aislamiento & purificación , Infecciones por Papillomavirus/epidemiología , Infecciones del Sistema Respiratorio/epidemiología , Enfermedades Virales de Transmisión Sexual/epidemiología , Adolescente , Adulto , Anciano , Infecciones por Chlamydia/epidemiología , Chlamydia trachomatis/aislamiento & purificación , Enfermedades Transmisibles , Gonorrea/epidemiología , Papillomavirus Humano 16/aislamiento & purificación , Humanos , Japón/epidemiología , Masculino , Persona de Mediana Edad , Mycoplasma/aislamiento & purificación , Infecciones por Mycoplasma/epidemiología , Neisseria gonorrhoeae/aislamiento & purificación , Papillomaviridae/genética , Infecciones por Papillomavirus/orina , Prevalencia , Infecciones del Sistema Respiratorio/orina , Infecciones del Sistema Respiratorio/virología , Enfermedades Virales de Transmisión Sexual/orina , Enfermedades Virales de Transmisión Sexual/virología , Ureaplasma/aislamiento & purificación , Infecciones por Ureaplasma/epidemiología , Adulto Joven
19.
Int J Urol ; 21(7): 724-7, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24661193

RESUMEN

Dynamic motion of the pelvic floor muscles during voiding was analyzed using real-time magnetic resonance imaging. To evaluate the contraction of the pelvic floor muscles, striated urethral sphincter distance, levator ani muscle thickness and anterior fibromuscular stroma distance were measured. The percent contraction of the striated urethral sphincter from before voiding to just before initiation of voiding was 14% in the normal group and 5% in the voiding dysfunction group. The percent contraction of the anterior fibromuscular stroma from before voiding to just before initiation of voiding was 11% in the normal group and 1% in the voiding dysfunction group; the percent contraction of the muscles was significantly greater in the normal group (P < 0.05). Striated urethral sphincter and anterior fibromuscular stroma contraction at initiation of voiding open the bladder neck and urethra. This plays an important role in the smooth initiation of voiding.


Asunto(s)
Antagonistas de Receptores Adrenérgicos alfa 1/uso terapéutico , Contracción Muscular/fisiología , Músculo Esquelético/fisiología , Diafragma Pélvico/fisiología , Uretra/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Contracción Muscular/efectos de los fármacos , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/patología , Próstata/fisiología , Uretra/efectos de los fármacos , Uretra/patología , Micción/efectos de los fármacos , Micción/fisiología
20.
Arch Ital Urol Androl ; 86(1): 1-4, 2014 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-24704922

RESUMEN

OBJECTIVE: Overproduction of reactive oxygen species results in oxidative stress, a deleterious process that damages cell structure as well as lipids, proteins, and DNA. Oxidative stress plays a major role in various human diseases, such as oligoasthenozoospermia syndrome. MATERIALS AND METHODS: We evaluated the effectiveness of antioxidant co-supplementation therapy using vitamin C, vitamin E, and coenzyme Q10 in men with oligoasthenozoospermia. Overall, 169 infertile men with oligoasthenozoospermia received antioxidant therapy with 80 mg/day vitamin C, 40 mg/day vitamin E, and 120 mg/day coenzyme Q10. We evaluated spermiogram parameters at baseline and at 3 and 6 months of follow-up. RESULTS: Significant improvements were evident in sperm concentration and motility following coenzyme Q10 therapy. Treatment resulted in 48 (28.4%) partner pregnancies, of which 16 (9.5%) were spontaneous. Significant improvements in sperm cell concentration and sperm motility were observed after 3 and 6 months of treatment. CONCLUSIONS: Vitamin C, vitamin E, and coenzyme Q10 supplementation resulted in a significant improvement in certain semen parameters. However, further studies are needed to empirically determine the effect of supplementation on pregnancy rate.


Asunto(s)
Antioxidantes/uso terapéutico , Ácido Ascórbico/uso terapéutico , Astenozoospermia/tratamiento farmacológico , Oligospermia/tratamiento farmacológico , Recuento de Espermatozoides , Ubiquinona/análogos & derivados , Vitamina E/uso terapéutico , Adulto , Antioxidantes/administración & dosificación , Ácido Ascórbico/administración & dosificación , Astenozoospermia/diagnóstico , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Oligospermia/diagnóstico , Estrés Oxidativo/efectos de los fármacos , Motilidad Espermática/efectos de los fármacos , Espermatozoides/efectos de los fármacos , Resultado del Tratamiento , Ubiquinona/administración & dosificación , Ubiquinona/uso terapéutico , Vitamina E/administración & dosificación
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