Aicardi–Goutières syndrome with systemic lupus erythematosus and hypothyroidism

We report a case of Aicardi–Goutières syndrome with systemic lupus erythematosus and hypothyroidism. A 3-year-old girl, diagnosed with Aicardi–Goutières syndrome at 9 months, was transferred to our hospital for fever of unknown origin. Severe spasticity with dystonic posturing and flexion contracture of the limbs were noted. Interstitial pneumonia with pleural effusion was evident. Immunological investigations revealed positive antinuclear antibodies and reduced thyroid function. Prompt treatment with steroids, cyclophosphamide, and levothyroxine sodium hydrate elicited a good response. It is necessary to emphasize that its possible relationship between Aicardi–Goutières syndrome and systemic lupus erythematosus and/or hypothyroidism.     

NO EVIDENCE FOR PATIENT‐TO‐PATIENT TRANSMISSION OF HEPATITIS C VIRUS DURING UPPER GASTROINTESTINAL ENDOSCOPY: MOLECULAR STUDIES ON THREE ACUTE HEPATITIS C PATIENTS

Background: The risk of patient‐to‐patient transmission of hepatitis C virus (HCV) during endoscopy remains controversial. Using molecular approaches, we examined the possibility of patient‐to‐patient transmission of HCV in three patients who developed acute hepatitis C 1–6 months after examination by upper gastrointestinal endoscopy (UGIE) in a hospital endoscopy unit in Japan. Methods: For the source of HCV infection, we used frozen sera obtained from potential candidates who underwent UGIE earlier than three index patients on the same days in the same unit. HCV genotype was determined by multiplex polymerase chain reaction (PCR) with genotype‐specific primers. The 1087‐nucleotide (nt) sequence of the NS5B region of the HCV genome was compared between index patients and their HCV‐viremic candidates. Results: The three index patients were exclusively infected with HCV of genotype 1b. Among a total of 60 candidate patients who underwent UGIE earlier than the index patients, 14 were positive for anti‐HCV, of whom 12 had detectable HCV‐RNA (1b, n = 9; 2a, n = 1; 2b, n = 2) on sera collected during each UGIE. Shared identity within the 1087‐nt NS5B sequence was less than 95.0% between index patients and HCV/1b‐infected candidates (n = 3, 1 and 5, respectively). None of the remaining 46 candidates who were negative for anti‐HCV at UGIE examination tested positive for HCV‐RNA, nor seroconverted to anti‐HCV on their sera, which most likely excludes the possibility of HCV viremia despite the anti‐HCV‐negative serology at UGIE examination. Conclusion: The present study suggests that patient‐to‐patient transmission of HCV during UGIE is infrequent.     

Treatment of oligoasthenozoospermia with tranilast,a mast cell blocker,after long-term administration

The authors retrospectively examined whether long-term administration of tranilast improves semen parameters in severe oligoasthenozoospermia. Fifty-two patients presenting with sperm concentration of less than 10 x 10(6) sperm/mL were enrolled. Subjects were partitioned into 3 groups as follows: patients displaying an atrophic testis with elevated (FSH) (group 1), patients exhibiting normal testicular volume with elevated FSH (group 2), and patients with normal testicular volume and normal FSH levels (group 3). Tranilast (300mg/day) was administered until pregnancy was achieved or for a period of up to 12 months. Sperm concentration was significantly increased at 3 months in 16 subjects (44%) in groups 1 and 3. In group 2, sperm concentration was increased at 12 months (5 of 16 subjects; 31%). Total sperm count was obviously elevated at 3 months in groups 1 and 2, and at 6 months in group 3. Six pregnancies were achieved via natural intercourse. Tranilast, a mast cell blocker, demonstrates a certain clinical benefit in terms of improvement of semen parameters involving severe oligoasthenozoospermia, but it does not appear to afford clinical benefit in long-term administration.     

Effective treatment of bladder tumor-bearing mice by direct delivery of bleomycin using electrochemotherapy

We investigated the cytotoxicity on the combination of bleomycin (BLM) with electric pulses against transplanted bladder tumors in nude mice. Loading with high-voltage electric pulse after injection of BLM was associated with a decrease in tumor size; tumor size became smaller and disappeared 8 days after the treatment. Such complete regression was achieved with one treatment using BLM of one-tenth the lethal dose (LD 50 ) combined with electric pulses. On day 20, regrowth was observed at a much slower rate than at lower concentrations of BLM. Pathological examinations of the tumor tissues after treatment revealed disruption of the nucleus in the exposed tissues on day 2. Furthermore, a decrease in number of the stained nuclei and cytoplasmic lysis were observed on day 4. These results showed that electric pulses was an effective tool to deliver drugs into bladder tumor cells and an effective treatment method for bladder tumors.     

Ammonium acid urate urinary stone caused by a low-caloric diet: a case report

A 32-year-old woman complained of right back pain and pyuria. The plain radiograph (KUB) and drip infusion pyelography (DIP) demonstrated a right renal stone and hydronephrosis. The stone was successfully treated using extracorporeal shock wave lithotripsy. Infrared spectrophotometry revealed that the stone was composed of pure ammonium acid urate. The patient had a 3-year history of excessive anorexia. The low-caloric diet was considered to have caused the disease.     

Breast cancer

Adjuvant chemo-endocrine therapy for breast cancer (ACETBC) trial has been the first large scaled clinical trial performed in Japan. Several prospective randomized trials have been performed in Japan since ACETBC-1 trial started in 1985. The effect of oral 5-FU agents had been tested in prospective randomized trials and the statistically marginal effect of oral 5-FU agents in adjuvant settings has been reported. Several trials having CMF as a control arm started in 1996 when CMF combination chemotherapy was approved by the government. The results of these trials have not been published. To perform good clinical trials, it is imperative to construct infrastructures including clinical research coordinator, and abolish governmental regulation of the dose of anticancer agents.