A sex reversal infant with XX karyotype and complete male external genitalia

The unusual case of a Japanese newborn XX male is presented. Examination of chromosomes in amniotic fluid cells had shown a normal female karyotype (46,XX), but ultrasonography revealed a penis and a scrotum. The neonate had normal male external genitalia, and serum levels of luteinizing hormone follicle stimulating hormone, and testosterone were all within the normal range. High resonance chromosome analysis revealed an excess portion on the short arm of one of the X chromosoms. We examined his genomic DNA by polymerase chain reaction (PCR) and detected two Y specific regions in his genomic DNA, the sex-determining region Y (SRY) and pseudoautosomal boundary Y. Nucleotide sequencing of the PCR products of SRY indicated no mutation. These findings suggested that the translocation or insertion of an SRY region on the X chromosome led to the development of testicles and a male phenotype.     

Effects of cytokines on hematopoietic progenitor cells in cord blood,in bone marrow,and in peripheral blood mobilized by chemotherapy and G-CSF

We compared the effects of various combinations of cytokines (stem cell factor [SCF], interleukin [IL] ?3, IL-6, granulocyte-colony stimulating factor [G-CSF], erythropoietin [EPO]) among the growth of human hematopoietic progenitor cells from cord blood (CB), bone marrow (BM), and peripheral blood mononuclear cells (MNC) mobilized by chemotherapy and G-CSF (PB) in a semi-solid medium. Macroscopic colonies, that were visible to the naked eye, were formed from PB-MNC within 1 week even without cytokines. They consisted of blasts containing macrophage-like cells with immature nuclei on Wright stain, and were strongly accelerated by IL-3. Macroscopic colonies were also formed from CB-MNC. However, they appeared after 1–3 weeks and synergistic effects of SCF with other cytokines, especially EPO, were prominent. Macroscopic colonies were not formed from BM-MNC. Granulocyte-colony stimulating factor was effective in increasing colony forming units of granulocyte macrophage from BM-MNC and they appeared between 1 and 2 weeks. These results suggested that the quality of hematopoietic progenitor cells was different among blood sources. This might lead to different bone marrow recovery patterns after transplantation of each blood source. The appropriate cytokines should be added to evaluate their exact potential.     

Termination of Ventricular Tachycardia by an Implantable Atrial Pacemaker and External Pacemaker Activator

An atrial pacemaker was implanted in a patient who had dilated cardiomyopathy, sinus node dysfunction, and drug-resistant ventricular tachycardia (VT). VT episodes were terminated by atrial overdrive pacing using an implanted pacemaker and a newly developed hand-held external programmer/transmitter. Although successful cases of termination of intractable VT by ventricular pacing have recently been reported, the ventricular method might increase the risk of accelerating VT. Atrial overdrive pacing is a safer method since it minimizes the possibility of tachycardia acceleration and, combined with antiarrhythmic drugs, it appeared to be a unique and useful approach for the treatment of drug-resistant VT.     

Recovery of health related quality of life after radical prostatectomy in Japanese men: A longitudinal study

BACKGROUND: We performed a longitudinal survey of health related quality of life (HRQOL) after radical retropubic prostatectomy (RP) in Japanese men with localized prostate cancer. METHODS: The present study started with self-reported HRQOL assessments provided by 72 patients who received only RP. The RAND 36-Item Health Survey and the University of California, Los Angeles Prostate Cancer Index were administered before and 3, 6 and 12 months after RP. RESULTS: Patients who underwent RP showed problems in some domains of general HRQOL, but these problems diminished over time. Urinary function declined substantially at 3 months and continued to recover at 6 and 12 months, but scored lower than the baseline. Urinary bother at 3 months had a significant decrease, but at six months it turned out to be the same as the baseline. The data of sexual function and bother showed a substantially lower score after RP. The sexual bother score of the younger men was significantly worse than that of the older men. Those who underwent nerve sparing procedures experienced significantly better recovery of urinary and sexual functions than the non-nerve sparing group. CONCLUSION: Despite reports of problems with sexuality and urinary continence, general HRQOL was mostly unaffected by RP after 6 months. Although there was a substantial decrease in urinary function, recovery from urinary bother was rapid. Deterioration of the sexual domain was remarkable throughout the postoperative period. Therefore, careful attention should be given to preoperative counseling, especially for younger patients.     

Partial androgen insensitivity syndrome with thermolability in the androgen receptor

We report case of partial androgen insensitivity syndrome in a 12-year-old boy referred to our clinic complaining of bilateral gynecomastia and left undescended testicle. Laparoscopy for undescended testicle and bilateral mastectomy were performed, and the left testicle was absent. When skin fibroblasts of the scrotum obtained during surgery were cultured to analyse the androgen receptors, a slight thermolability was observed. Genomic examination of the androgen receptor gene could not detect any mutations.     

Relationship between nocturnal urinary frequency and sleep disturbances in aged men

Abstract The relationship between nocturnal urinary frequency and sleep disturbances is investigated in aged men in 12 rural towns in Kyoto and Shiga Prefectures. The subjects were 178 men who did not have diseases or symptoms that were likely to affect urinary condition or sleep. There were no significant differences in sleep disturbances, except sleep maintenance, between the normal group (nocturnal urinary frequency below twice per night) and the abnormal group (nocturnal urinary frequency twice or more per night). In healthy aged men, nocturnal urinary frequency only caused disturbance in sleep maintenance, but did not cause any other sleep disturbance.     

Low prevalence of hepatitis C virus infection in patients with auto-immune hepatitis type 1

Hepatitis C virus (HCV) antibodies were measured in 28 patients with auto-immune hepatitis type 1 using six different assay kits, three for C100–3 antibody and three for second generation HCV antibody, and two confirmatory tests to determine the prevalence of HCV infection in auto-immune hepatitis. These patients were confirmed to have human leucocyte antigen DR 4 or 2 which is susceptible to auto-immune hepatitis in Japanese. Of the 28 patients, four (14.3%) were positive for HCV antibody in all assays and reacted positively in at least one of the two confirmatory tests, indicating a true positive finding. Eight were positive for HCV antibody only by the Ortho ELISA kit and were negative in both confirmatory tests. The cut-off level for these results was low and became negative soon after the patients received corticosteroid treatment. Thus, these eight patients are presumed to be false-positive reactors. Hepatitis C virus RNA was detected in the serum of two of the four patients with HCV antibody and in none of 24 patients without HCV antibody. No significant difference was observed between the patients with and without HCV antibody in terms of clinical background, liver function tests and auto-antibodies. Our results showed that the prevalence of a past or present HCV infection in patients with auto-immune hepatitis in Japan is low; thus, auto-immune hepatitis is thought to be distinct from hepatitis type C. However, it is also suggested that HCV infection can potentially trigger auto-immune hepatitis.     

Infectious mononucleosis as a disease of early childhood in Japan caused by primary Epstein-Barr virus infection

The present study investigated 54 pediatric patients with acute Epstein-Barr virus (EBV)-induced infectious mononucleosis (IM) in Japan. Most of the acute cases clustered within the first 5 years of life, and the peak incidence was observed at around 4 years of age. These patients were arbitrarily separated into three age groups (less than 3 years, 3–5 years, and 6–14 years). Fever, pharyngitis, lymphadenopathy and hepatomegaly were detected in more than 80% of all cases. Tonsillitis and splenomegaly were present in about 60% of cases. Skin manifestations and eyelids edema were less often detected in the older age group than in the younger age groups. In addition to an increase of total white blood cell and lymphocyte counts in the peripheral blood, a significant increase in the percentage of CD3⁺ CD8⁺ HLA-DR⁺ T cells was always observed. Epstein-Barr virus seropositivity increased soon after birth and reached approximately 70% around 3 years of age. Close to 100% of the adult controls were EBV seropositive. The results suggest that EBV-induced acute IM is a disease of early childhood in Japan.