Twins with moyamoya disease

Moyamoya disease is a progressive disease which involves the internal carotid arteries and its branches bilaterally. The disease is reported both in adults and in children. Moyamoya disease is frequently seen in Japanese patients having certain human leucocyte antigen (HLA) haplotypes including HLA-Aw24, Bw46 and Bw54. Twin cases are rarely reported in the literature. We hereby present the first Turkish monozygotic twins with moyamoya disease whose HLA haplotypes are A2, A9, B21, Bw22, Bw4, Bw6, Cw3, and DR2, DR4, DRw52, DRw53, Dq7. The patients with advanced disease were given nifedipine and intravenous immunoglobulin (400mg/kg/d for 5 days). During the 11 months of follow-up, the patients were attack free.     

Prognostic value of oxygen saturation and heart rate during a six-minute walk test in pediatric pulmonary hypertension

Background/aimTo evaluate the pre and post-treatment heart rate and oxygen (O₂) saturation values measured before, during and after 6MWT in children who received PAH-specific treatment and to determine the effect of these variables on prognosis.Materials and methodsThis retrospective study included 29 patients who were diagnosed as PAH and treated. The transcutaneous O₂ saturationand heart rate levels were recorded before the test: baseline (Sat0, HR0), at the end of the test: exercise (Sat1_, HR1)and 5 min after the test: recovery (Sat2_, HR2). The increase in heart rate was defined as HR1-HR0 and the decrease in saturation as Sat0-Sat1. The results obtained before and after the PAH-specific treatment were analyzed and their effect on survival was assessed. Results Fifteen of 29 patients were female (51.7%). The mean age was 127.2 ± 44.8 months and the median follow-up time was 60 (12–156) months. Only pre-treatment HR1 was found associated with survival. The mean HR1 value of survivors was 122.8 ± 18.4 and that of deceased 94.3 ± 19.1 (p = 0.03). Post-treatment 6MWT was associated with survival. It was 453.3 ± 96.5 m for survivors and 250 ± 135.2 m for deceased (p = 0.02).Conclusion Post-treatment 6MWT, FC and proBNP had prognostic value in pediatric patients with PAH. The decrease in saturation and increase in heart rate were not found to have a prognostic value. Pre-treatment HR1was associated with survival. Identification of these prognostic factors at the beginning and throughout the treatment may be a guide for detecting the severity of the disease and follow-up.     

Enlarged spectrum of seminological diagnoses using the resazurin colour reaction; a spectrophotometric application

Two sets of investigations were carried out in the present study to establish whether, in semen samples processed for the resazurin reaction (RT), the colour change and its intensity were informative for both the quality and quantity of spermatozoa. First, the results of RT were read visually using single semen samples from 42 consecutive men from infertile couples. In the second step, the results were additionally read using a spectrophotometer. Single semen samples obtained from another 87 consecutive men from infertile couples and 12 men from fertile couples were analysed in this step. Visual analysis, which involved grading against an RT colour chart, revealed a significant positive correlation between the RT results and the quantity and quality of spermatozoa. Azoospermia was diagnosed by grade number 1(dark purple colour), while the highest grades 8–11 (colours dark red to pink) represented a homogeneous group of patients with the highest quality of spermatozoa (>60% motility) and quantity (>60 × 10⁶/ml ejaculate). Normal parameters of spermatozoa, according to WHO, appeared with a high predominance (89–100% of cases) in this group and were present in most of the samples. Thus, the grades 8–11 might represent semen samples with optimal fertility potential. Spectrophotometric analysis of RT revealed that visual characteristics corresponded closely to the values for optical density (OD) of the samples. The OD for normozoospermic samples ranged between 1.48 and 1.84; for oligozoospermia between 1.2 and 1.48; for azoospermia between 0.98 and 1.1. The OD for samples with putative optimal fertility potential ranged between 1.6 and 1.84. RT evaluation using a spectrophotometer may therefore provide a tool for obtaining a wider spectrum of seminological diagnoses than classic microscopic examination, especially for distinguishing men with probable optimal fertility potential.     

Acute disseminated encephalomyelitis exacerbated by varicella

The actual incidence of central nervous system complications with varicella ranges from 0.1 to 0.7% in several series and the time interval between the rash and the type of neurological manifestation varies widely. Cerebellar ataxia and hypotonia are the most common neurological abnormalities associated with varicella. We present a report on a 6-year-old girl with an unusual course of disease finally presenting a probable diagnosis of acute disseminated encephalitis.     

Synthesis of Testosterone and 5α-Reduced Androgens during Initiation of Spermatogenesis in the Rat

Numerous investigators demonstrated increased 5 alpha-reductase activity in testes of developing rats. The rapid in vitro metabolism of progesterone to 5 alpha-reduced androgens occurs at certain stages of testicular development. This was considered evidence for the conclusion that testosterone is primarily an intermediate rather than the final product in testes of immature rats. However, a discrepancy is noted when developmental patterns of circulating or intratesticular levels of androgens are compared with the patterns of accumulation of metabolites of progesterone in vitro. In blood and testicular tissue of 17-20 day old rats a testosterone peak has been reported, while in the in vitro studies such peak was not observed. In this study radiolabelled pregnenolone was utilized in vitro as a substrate, and a pattern of androgen formation similar to that observed in the in vivo studies was noted. A peak of androgen formation (testosterone and 5 alpha-androstanediol) was observed used prior to completion of the meiotic prophase. However, when testosterone was utilized as the substrate, no correlation between 5 alpha-reduction and completion of the meiotic prophase was detected. This suggests that the rise in testosterone may be associated with completion of the meiotic prophase. Investigation of the androgen metabolic pathways revealed the following age-related patterns: no change in 17 beta-hydroxysteroid dehydrogenase, activation of 5 alpha-reductase at 12 days of age, and activation of 3 alpha-hydroxysteroid dehydrogenase between 14 and 18 days of age.(ABSTRACT TRUNCATED AT 250 WORDS)     

The Influence of Human Menopausal Gonadotropin,Natrium Fluoride and Cyproterone Acetate on the Spermatogenesis in Immature Rats*

Der Einfluß von HMG, Natriumfluorid und Cyproteronacetat auf die Spermiogenese bei unreifen Ratten HMG, Natriumfluorid und Cyproteronacetat wurden unreifen männlichen Ratten zwischen dem 26. und 33. Lebenstag verabreicht und die Hoden der 33 Tage alten Ratten wurden untersucht. HMG-Zufuhr allein beeinflußte den Spermatidenreifungsprozeß nur wenig, während unter Natriumfluorid deutlich mehr Tubuli seminiferi nachgewiesen wurden, die Spermatiden enthielten. Cyproteronacetat allein schädigte die Spermatidenreifung vor allem in der Kappenphase der Spermiogenese und bewirkte eine Degeneration der Meiose-Spermatozyten sowie eine Herabsetzung des Tubulusdurchmessers. Diese Veränderungen konnten durch Zufuhr von HMG verhindert werden.