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Objective: To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. Case and Methods: A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of hydrocephalus. Ultrasonography of the fetus showed cloverleaf skull with dilated lateral ventricles, exophthalmos, macroglossia, and a single ventricle of the heart in addition to polyhydramnios. MR imaging was performed at 30 weeks of gestation and revealed cloverleaf skull, dilated lateral ventricles, and broad thumb. Fetal karyotyping indicated 46,XY, but DNA sequence analysis showed a single sequence variation (Nt 1198A>G) in the fibroblast growth factor receptor (FGFR) 2 gene (exon 10). On the basis of these findings, the baby was diagnosed in utero with Pfeiffer syndrome type II. Following counseling, the pregnancy was terminated because polyhydramnios made the patient’s symptoms more severe. The patient delivered her baby vaginally at 34 weeks of gestation. The baby’s birth weight was 2,298 g; the baby was declared dead at 25 min after birth. Conclusion: The detailed findings obtained by a combination of ultrasound that included three-dimensional and MR imaging and confirmation sought via molecular testing led to an accurate diagnosis of Pfeiffer syndrome type II in utero. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We report a 36-year-old patient who presented with primary amenorrhea and was found to have a giant abdominal tumor. There was a family history of primary amenorrhea in her two aunts. Physical and hormonal examinations as well as chromosomal analysis led to a diagnosis of testicular feminization. The patient underwent tumorectomy along with pelvic and para-aortic lymphadectomy. The pathological diagnosis was bilateral seminoma of the testis with metastasis to para-aortic lymph nodes. Nowadays, cases of undiagnosed seminoma developing into a huge abdominal mass in patients with testicular feminization are rarely encountered, since surgical castration is generally recommended as early as possible after puberty. In testicular feminization, the risk of malignant transformation of the dysgenetic male gonads increases substantially after puberty. Early and correct diagnosis together with careful follow-up are critically important in managing testicular feminization, a rare congenital disorder. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented on a case study of a 33-year-old male with congenital afibrinogenemia who underwent successful ABO-incompatible kidney transplantation.

Acute uncomplicated cystitis (AUC) is one of the most common bacterial urinary tract infections. AUC frequently occurs in young sexually active, as well as postmenopausal, women. According to the guidelines published by the Infectious Diseases Society of America in 1999, the standard antimicrobial regimen for treatment of AUC is 3 days with trimethoprim–sulfamethoxazole (TMP/SMX); however, today the most popular antibiotics are the fluoroquinolones because of the emergence of uropathogens that are resistant to TMP/SMX. Fluoroquinolone resistance is also increasing worldwide, although the resistance rates have not been as high as those for TMP/SMX. Extended-spectrum β-lactamase (ESBL)-producing strains are another problem because most nosocomial ESBL producers are also resistant to non-β-lactams, such as the fluoroquinolones. Under such circumstances, 3 days of therapy with fluoroquinolones or 7 days with β-lactams is recommended for empirical therapy, although these regimens should be re-evaluated in the next decade. Low-dose fluoroquinolones should no longer be used because of the potential for emergence of resistance. [ABSTRACT FROM AUTHOR]

A 6-year-old boy presented with the chief complaints of miction pain and pollakisuria. He had a past history of acute lymphoblastic leukemia (ALL), which subsided in response to chemotherapy at 3 years of age. Ultrasonography revealed urinary retention associated with bilateral hydronephrosis secondary to the prostate enlargement. Computed tomography and magnetic resonance imaging showed no other abnormal finding. Transrectal needle biopsy showed infiltration of leukemic cells in the prostate. Bone marrow puncture and cerebrospinal fluid aspiration revealed no leukemic cells, resulting in a diagnosis of extramedullary relapse of ALL in the prostate. Although he was successfully treated by chemotherapy, irradiation and his voiding function was improved, ALL relapsed in the left testis 1 year later. In spite of left orchiectomy, irradiation and additional chemotherapy, he died of bone marrow relapse and multiple organ failure. Extramedullary relapse of ALL in the prostate is very rare. To our knowledge, our case is the first well-documented report in the published work. [ABSTRACT FROM AUTHOR]

Abstract We present a case of low-flow priapism that was successfully treated. A 21-year-old man with a history of schizophrenia was admitted with a painful complete erection. He had taken propericiazine, phenothiazine derivatives, before hospitalization and was treated with a glandular–cavernosal shunt (El-Ghorab's procedure). Currently, he is able to have erections without any changes in his quality of life. [ABSTRACT FROM AUTHOR]

One factor explaining the declining birth rate in Japan is the social advancement of women. Women are delaying marriage and childbirth, with many then facing so-called 'social infertility'. Advanced infertility treatment options, such as in vitro fertilization, are available, but the costs are high. Further, the success rates for 'older' women are only around 10%. We report the preliminary results of an oocyte cryopreservation programme promoted and subsidized by our city government. Citywide seminars were conducted to generate awareness of issues surrounding fertility. Among the total 81 attendees were women considering oocyte retrieval and the current practice of oocyte retrieval and cryopreservation and its associated risks were explained. Fifty-seven attendees, women under 34 years of age, were considered potential candidates for the procedure. These women wished to delay pregnancy for specific reasons, such as occupational demands. Twenty-six of these women expressed a definite desire for oocyte cryopreservation, and 19 have thus far completed the oocyte retrieval and cryopreservation procedure. Frozen MII oocytes have ranged in number from 3 to 22 per patient (mean ± SD, 8.3 ± 5.2). Outcomes thus far indicate that women whose fertility is at risk can be assisted by this fertility preservation method and that it will help address the problem of the declining birth rate in Japan. [ABSTRACT FROM AUTHOR]

Background/Aims: α-Klotho is mainly expressed in the kidneys, and its soluble form can prevent vascular calcifications. Inhibition of the mammalian target of rapamycin (mTOR) upregulates Klotho. We assessed serial changes in the levels of soluble Klotho (sKlotho) in recipients before and after renal transplantation and investigated the effects of an mTOR inhibitor. Methods: Serum sKlotho levels were measured in 36 recipients before and 1 year after transplantation and compared between those taking everolimus and those not taking everolimus. Results: sKlotho levels were higher after transplantation than before transplantation (369.3 vs. 211.8 pg/mL). After transplantation, sKlotho levels were significantly higher in recipients taking everolimus than in those not taking everolimus (536.7 vs. 332.4 pg/mL). Conclusion: Our results suggest that mTOR inhibition may augment the increase in sKlotho levels in transplant recipients. Further studies are needed to examine whether mTOR inhibitors suppress the development of vascular complications via upregulation of Klotho expression in renal transplant recipients. [ABSTRACT FROM AUTHOR]

Purpose We previously attempted to develop quantitative enzyme-linked immunosorbent assay (ELISA) systems for the PDA039/044/071 peptides, potential serum disease biomarkers (DBMs) of pregnancy-induced hypertension (PIH), primarily identified by a peptidomic approach (BLOTCHIP®-mass spectrometry (MS)). However, our methodology did not extend to PDA071 (cysteinyl α2-HS-glycoprotein341-367), due to difficulty to produce a specific antibody against the peptide. The aim of the present study was to establish an alternative PDA071 quantitation system using liquid chromatography-multiple reaction monitoring (LC-MRM)/MS, to explore the potential utility of PDA071 as a DBM for PIH. Methods We tested heat/acid denaturation methods in efforts to purify serum PDA071 and developed an LC-MRM/MS method allowing for specific quantitation thereof. We measured serum PDA071 concentrations, and these results were validated including by three-dimensional (3D) plotting against PDA039 (kininogen-1439-456)/044 (kininogen-1438-456) concentrations, followed by discriminant analysis. Results PDA071 was successfully extracted from serum using a heat denaturation method. Optimum conditions for quantitation via LC-MRM/MS were developed; the assayed serum PDA071 correlated well with the BLOTCHIP® assay values. Although the PDA071 alone did not significantly differ between patients and controls, 3D plotting of PDA039/044/071 peptide concentrations and construction of a Jackknife classification matrix were satisfactory in terms of PIH diagnostic precision. Conclusions Combination analysis using both PDA071 and PDA039/044 concentrations allowed PIH diagnostic accuracy to be attained, and our method will be valuable in future pathophysiological studies of hypertensive disorders of pregnancy. [ABSTRACT FROM AUTHOR]

A 70-year-old man presented with 2 years history of a painless hard mass in the left scrotum. Both pelvic computed tomography and magnetic resonance image showed enhancement only in the wall of the tumor, indicating a benign disease, rather than a neoplastic lesion. Physical examination 3 weeks after the first presentation showed the remarkable reduction of the left testicular size. Left inguinal orchiectomy was carried out and pathological diagnosis was seminoma with extensive necrotic areas occupying mostly the tumor. Either shrinkage or enlargement of testicular size with a long history demands full investigation for malignancy. [ABSTRACT FROM AUTHOR]

Introduction Patients with hypospadias are treated surgically during childhood, which has the intention of enabling a satisfactory sexual life in adulthood. However, it is unclear whether patients with corrected hypospadias can lead a satisfactory sexual life and sustain a marital relationship and produce offspring. Aim To evaluate factors associated with achievement of sexual intercourse, marriage, and paternity in patients with hypospadias who have reached adulthood. Methods Self-completion questionnaires were mailed in April 2012 to patients with hypospadias at least 18 years old who had been treated at our institution during childhood from 1973 through 1998 by a single surgeon and the same surgical policy. Assessments included the International Prostate Symptom Score, the International Index for Erectile Function-5, and non-validated questions related to current social and physical status and sexual, marital, and paternity experiences. Candidate factors were extracted from patients’ neonatal data, surgical findings and results, and current physical and social status obtained by the questionnaires. Main Outcome Measures Candidate factors associated with heterosexual intercourse, marriage, and paternity experiences were analyzed using univariate and multivariate proportional hazard models and log-rank test of Kaplan-Meier curves. Results Of the 518 patients contacted, 108 (age = 18–50 years, median = 28 years) met the inclusion criteria. Two- and one-stage repairs were performed as the initial treatment in 79 and 12, respectively, and 17 of the analyzed cases were reoperations for patients initially treated elsewhere. Fifty-seven patients had the milder type (31 glandular, 26 penile), 36 had the proximal type (13 penoscrotal, 23 scrotal-perineal), and 15 had an unknown type. Multivariate analyses by Cox proportional hazard model and log-rank tests confirmed that experience of sexual intercourse was associated with the milder type of hypospadias ( P = .025 and .0076 respectively), marriage was associated with stable employment ( P = .020 and .026, respectively), and paternity was associated with the absence of additional surgery after completion of the initial repair ( P = .013 by multivariate analysis). Conclusion There was scant overlap of factors associated with the three events. The present findings provide reference information for surgeons and parents regarding future sexual and marriage experiences of children treated for hypospadias. [ABSTRACT FROM AUTHOR]

Choline is a new positron emission tomography (PET) tracer useful for detection of prostate cancer and metastatic lesions. We report a 70-year-old man with prostate cancer and multiple abdominal, pelvic, and inguinal node metastases. PET scans demonstrated accumulation of 11C-choline in the primary tumor and lymph node metastases but no accumulation of 18FFDG. Choline PET/computed tomography may be useful for diagnosis of advanced prostate cancer with suspected metastatic lesions and treatment planning. [ABSTRACT FROM AUTHOR]

Background: We previously reported peptide candidates of disease biomarkers for pregnancy-induced hypertension syndrome using a novel peptidomic analytical method, BLOTCHIP®-MS. The aim of this study was to establish a sandwich enzyme-linked immunosorbent assay system for quantitation of such peptides and to validate their usefulness as disease biomarkers of pregnancy-induced hypertension syndrome including gestational hypertension/pre-eclampsia.Methods: We focused on three peptide fragments, kininogen-1439-456 (PDA039), kininogen-1438-456 (PDA044) and cysteinyl α2-HS-glycoprotein341-367 (PDA071). Using polyclonal antibodies specific for each peptide, suitable conditions for the sandwich enzyme-linked immunosorbent assay system were investigated. The quantitative enzyme-linked immunosorbent assay values were confirmed by quantitative matrix assisted laser desorption/ionization time-of-flight MS analyses. Using the established enzyme-linked immunosorbent assay systems, serum samples from gestational hypertension/pre-eclampsia patients and paired serum samples from healthy pregnant females were analysed.Results: The optimum sandwich enzyme-linked immunosorbent assay conditions for PDA039/044 quantitation were developed. Quantitation of PDA071 by enzyme-linked immunosorbent assay failed, presumably due to issues with polyclonal antibody specificity for the native peptide. Bland-Altman plots showed a satisfactory correlation between the serum PDA039/044 concentration by enzyme-linked immunosorbent assay and that by quantitative MS analysis. Although the PDA044 concentration showed no significant change during pregnancy, including gestational hypertension/pre-eclampsia patients, the serum PDA039 concentration was significantly increased (P < 0.0001) in the patients.Conclusions: The simple quantitation technology for PDA039 by enzyme-linked immunosorbent assay was established for the first time. PDA039 confirmed its clinical utility as a disease biomarker for gestational hypertension/pre-eclampsia by the enzyme-linked immunosorbent assay system using clinical samples. The information provided from the present study would be a new valuable addition in the field of gestational hypertension/pre-eclampsia research. [ABSTRACT FROM AUTHOR]

Background: Cotyledonoid dissecting leiomyoma (Sternberg tumor) is a rare variant of the uterine smooth muscle tumor. Although this tumor is a benign tumor clinically and pathologically, the appearance and growth pattern is unusual, so it may be misdiagnosed as malignancy. Case reports: We report two cases of cotyledonoid dissecting leiomyoma of the uterus that occurred in two 44- and 31-year-old women, respectively. Total hysterectomy and bilateral salpingo-oophorectomy were performed in one of the patients, and myomectomy was done in the other one. Macroscopically, both tumors were grape-like exophytic masses resembling placental tissue. The patients were well after surgery, and one patient gave birth. To our knowledge, this is the first case report of a successful delivery after myomectomy of this tumor. Conclusion: To prevent aggressive surgery it is important to recognize that this tumor is a benign and unusual appearing variant of leiomyoma. A fertility-sparing surgical procedure should be considered if the patient wishes to preserve her fertility. [ABSTRACT FROM AUTHOR]

To date, numerous studies have searched for candidate molecules or clinical examination methods as potential biomarkers for monitoring intractable diseases, such as carcinomas. Evidence accumulated over the past decade shows that many proteolytic peptides appear in human humoral fluids, including peripheral blood, in association with an individual's health condition. Although an analysis of the whole peptide (the 'peptidome') using mass spectrometry is thought to be one of the most powerful and promising experimental approaches, it has failed to identify biomarkers in the clinical blood samples, presumably due to the methodological limitations. In general, commonly used techniques for proteomic analysis of blood require the removal of large amounts of serum/plasma proteins prior to mass spectrometry analysis, and this step seems to have resulted in the overlooking of important biomarkers during the analytical process. Here, we provide a brief overview of a new quantitative peptidomic analysis by a one-step direct transfer technology without depletion of major blood proteins. Using this technology, we herein report experimental data on serum peptidomic analysis for patients with pregnancy-induced hypertension as a clinical model. In addition, we refer to the potential utility of this approach for the monitoring of pathophysiological status in female reproductive system disorders in general. [ABSTRACT FROM AUTHOR]

TEX101, a member of the Ly-6/urokinase-type plasminogen activator receptor (LU)-family we previously identified, is a germ cell-marker glycoprotein. To date, it is reported that some members of the protein-family are overexpressed in a variety of cancer tissues. We previously reported Ly6k, a member of the LU-family, as an association molecule with TEX101 in murine male germ cells. LY6K (a human homologue of Ly6k) is overexpressed in head and neck squamous cell carcinomas (HNSCC). These facts led us to speculate that TEX101 may also exist in HNSCC, like LY6K. Using an anti-human TEX101 polyclonal antibody (pAb) established, we examined the expression of TEX101 protein in cancer tissues by immunohistochemical analysis. TEX101 was detected in the cancer cells of some tissue specimens from patients with HNSCC, whereas the normal squamous epithelium was immunonegative. The TEX101 protein was detected in cancer cells from 54 out of 64 (80.6%) patients with HNSCC. The rate of lymph nodes metastasis tends to be low in TEX101-positive patients, compared to patients with weakly positive and negative expression of TEX101. The present results imply that TEX101 is a novel cancer-related protein and may be useful as a marker for prognosis/diagnosis of HNSCC. [ABSTRACT FROM AUTHOR]

Abstract: Myxoid/round cell liposarcomas are rare mesenchymal neoplasms. They preferentially occur in the lower extremity, and most of them have type 1 or type 2 DDIT3-FUS fusion gene. We report here a very rare case of myxoid/round cell liposarcoma of the paratesticular region with type 3 DDIT3-FUS fusion gene. A 46-year-old Japanese man noticed a gradually enlarged intrascrotal mass without pain. Surgical resection of 3.4cm×2.1cm oval mass was carried out, and it was located in the right paratesticular region apart from the spermatic cord and epididymis. Histological examination of the tumor revealed ovoid cell proliferation with anastomosing vascular network and scattered lipoblasts. Genetic analysis elucidated that the tumor had a chromosomal translocation, type 3 DDIT3-FUS chimeric gene. The tumor was definitely diagnosed as myxoid/round cell liposarcoma of the paratesticular region. [Copyright &y& Elsevier]

The effects of sodium butyrate (SB), a histone deacetylase inhibitor, in combination with cisplatin (CDDP), for inhibition of cell growth and induction of apoptosis were investigated in bladder cancer cell lines in vitro. Bladder cancer cell lines T24, 253J, and UMUC3 were treated with different concentrations of CDDP or SB. Cell proliferation was studied by XTT assay. Cell-cycle analysis and induction of apoptosis were analyzed by laser scanning cytometry (LSC). Western blot analysis was used to determine expression of p21, p27, TRADD, FADD, caspase-2, and caspase-7. We observed that SB in combination with CDDP induced significant inhibition of cell growth in a dose-dependent manner through G arrest and apoptosis, as determined by LSC. When bladder cancer cell lines were treated with SB plus CDDP, Western blotting showed increased expression of p21 but not p27 in T24 cells, whereas both p21 and p27 increased in 253J and UMUC3 cells. All cell lines exhibited a moderate increase in TRADD and decrease in procaspase-2 but no significant change in FADD and procaspase-7. The results showed the synergistic anticancer effect of SB in combination with CDDP, their potential for treatment of bladder cancer, and their mechanism of action in terms of cell signal transduction and induction of apoptosis. [ABSTRACT FROM AUTHOR]

Abstract: Primary carcinoid tumor of the urinary bladder is a very rare neoplasm. We report here a case of primary carcinoid tumor of the urinary bladder with an unusual cytological feature in a 72-year-old Japanese man. A bladder polypoid mass was incidentally found by ultrasonography during the follow-up of a benign prostate hyperplasia. Histological examination of the transurethrally resected tissue revealed that the upper part of the mass was a tumor showing tubuloglandular anastomosing structures. Most of the tumor cells had peculiar subnuclear eosinophilic granules. The features of the granules were reminiscent of those observed in neuroendocrine cells of the intestine. The tumor cells were immunohistochemically positive for chromogranin A and synaptophysin. The tumor was diagnosed as carcinoid tumor of pure form of the urinary bladder. The lower part of the mass showed the findings of glandular cystitis, as its coexistence with carcinoid tumors of the bladder has often been described in previous reports. [Copyright &y& Elsevier]

single dose of antimicrobial prophylaxis (AMP) was administered parenterally for the prevention of perioperative infection in a total of 788 patients undergoing urological surgery, including 380 endoscopic-instrumental, 328 clean, and 80 clean-contaminated operations performed at our institute between January 2007 and December 2009. Surgical site infections (SSIs), urinary tract infections (UTIs), and remote infections (RIs) were prospectively surveyed. The definition for a single dose of AMP allowed for the administration of an additional dose of an antimicrobial during surgery if the procedure was longer than 3 h, but not for the parenteral or oral administration at the end of the procedure in the recovery room, or at a later time over a period of more than 24 h. UTI was observed in 12 (3.2%) patients after endoscopic-instrumental operation, 1 (0.3%) after clean operation, and 1 (0.9%) after clean-contaminated operation. SSI was observed in 2 (0.6%) patients after clean operation but in none after clean-contaminated operations. RI was observed in 1 (0.3%) patient after endoscopic-instrumental operation, 3 (0.9%) after clean operation, and none after clean-contaminated operations. A single-dose regimen of AMP was effective and feasible for the prevention of perioperative infections, including SSIs, UTIs, and RIs, in endoscopic-instrumental, clean, and clean-contaminated urological surgical procedures. [ABSTRACT FROM AUTHOR]

We report our initial experience with salvage therapy for low responders to PDE-5 inhibitors by adding vitamin E. Of 89 patients with ED who visited our clinic between January 2004 to August 2006, 9 were unable to obtain a full response to a PDE-5 inhibitor and included in the present study. After providing informed consent, each was given 300 mg per day of α-tocophenol at least 1 month and completed IIEF-5 questionnaires to assess its efficacy while also taking a PDE-5 inhibitor. With α-tocophenol administration, the average IIEF-5 score increased from 13.8±3.2 to 17.1±3.6. Four of seven patients who completed the questionnaire each time showed improved IIEF-5 scores, with a maximum elevation of 9 points. Further, eight of the nine patients experienced favourable subjective changes, the majority being increased penile rigidity. The present clinical trial results are, to our knowledge, the first known to show the effects of vitamin E for enhancing the efficacy of a PDE-5 inhibitor. [ABSTRACT FROM AUTHOR]

Many studies have suggested that human papillomavirus (HPV) infection plays an important role in the carcinogenesis of the cervical adenocarcinoma. However, the prevalence of HPV infection in cervical adenocarcinoma and adenosquamous carcinoma varies among the studies. Cervical adenocarcinoma (24 cases) and adenosquamous carcinoma (16 cases), including the underlying non-neoplastic epithelium were examined for HPV-DNA using in situ polymerase chain reaction (PCR), which enabled visualization of the localization on a glass slide. In adenocarcinoma, HPV-DNA was found in 13 cases (54%) and in eight cases in underlying non-neoplastic epithelium, resulting in a total of 21 positive cases (88%). In adenosquamous carcinoma, HPV-DNA was detected in 12 cases (75%) and and the HPV-DNA localization of each component was pure adenocarcinoma, 28.6%; mixed, 54.5%; and pure squamous cell carcinoma, 83.3%. In the underlying non-neoplastic epithelium, HPV-DNA was found more frequently in the squamous epithelium (73.3%) than the cervical glands (6.3%). In conclusion, HPV-DNA was detected in 54% of adenocarcinoma, and the rate was elevated by HPV localization in the underlying non-neoplastic epithelium. HPV infection in the underlying squamous epithelium might be related to the carcinogenesis, even in cervical adenocarcinoma. HPV-DNA localization was different in each component of adenosquamous carcinoma. [ABSTRACT FROM AUTHOR]

To investigate the prevalence of human papillomavirus (HPV) infection in patients attending a gynecologic outpatient department, and to correlate the infection status with the presence or absence of uterine cervical lesions and the grades assessed by cytological or histological examinations. Five hundred and seventy-two subjects were studied. In all subjects, HPV detection by the hybrid capture method and a cervical cytological examination were performed The HPV-positive rate in subjects with normal cytology was 12.3%. The detection rate was high (21.7%) in subjects aged in the twenties and low in the forties, and HPV was not detected in subjects aged in the sixties and seventies. When HPV-positive rates were examined according to cytological or histological grades, the rates were higher in subjects with abnormal cytology ( P < 0.01) or cervical intraepithelial neoplasia (CIN) or squamous cell carcinoma compared with those with normal cytology. Diagnosis of HPV infection is also important for the prediction of progression to CIN and cervical cancer. [ABSTRACT FROM AUTHOR]