RETT's syndrome in Korea--report of two cases

Rett's syndrome(RS) is a progressive neurodegenerative disorder characterized by exclusive occurrence in females, autistic behavior, dementia, gait ataxia, loss of purposeful use of the hands with stereotypic hand movement, and seizures. Initially RS was considered to be very rare; however, recent reports suggest that the prevalence is considerably higher and occurrence is world-wide. Because the pathophysiological process remains unknown, the diagnosis of RS is based mainly on its characteristic clinical features and course. We experienced two cases of RS which, to our knowledge, are the first reported in Korea. It is quite possible that many patients with RS not yet being diagnosed in Korea.     

Extramarital sex and HIV risk behavior among US adults: results from the National AIDS Behavioral Survey.

Data from the National AIDS Behavioral Survey were used to examine the social distribution of extramarital sex and risk for human immunodeficiency virus (HIV) infection among married individuals in the United States. Of 1686 married respondents living across the United States, 2.2% reported extramarital sex; of 3827 married respondents living in 23 urban areas with large Hispanic or African-American populations, 2.5% reported having sexual partners outside marriage. The data indicate that the correlates of extramarital sex varied by race/ethnicity. Low levels of condom use were found among people reporting extramarital sex (8% to 19% consistent users).     

HLA-DQA1*0101 haplotypes and disease outcome in early onset pauciarticular juvenile rheumatoid arthritis.

To further investigate a clinical impression that patients with early onset pauciarticular juvenile rheumatoid arthritis (EOPA-JRA) who carry HLA-DQw1 have more severe arthritis, we subtyped HLA-DQw1 in American midwestern patients with EOPA-JRA. The HLA-DQA1*0101 subtype was present in 10 of 19 patients who developed persistent polyarticular erosive disease compared with 18 of 92 healthy controls (chi 2 = 9.13, p = 0.003, RR = 4.6), and occurred more frequently in this polyarticular group than in patients without polyarticular erosive disease (chi 2 = 4.11, p = 0.040, RR = 3.0). The presence of HLA-DQA1*0101 was significantly lower in patients with chronic iridocyclitis than in patients without chronic iridocyclitis (chi 2 = 7.07, p = 0.008, RR = 0.21). In HLA-DQA1*0101 positive patients, DNA sequences of the beta-1 domain of the HLA-DQ alpha and HLA-DQ beta genes (HLA-DQA1*0101, HLA-DQB1*0501 and HLA-DQB1*0503) were identical to those in controls. In this midwestern EOPA-JRA population, HLA-DQA1*0101 or genes in linkage disequilibrium with it, are associated with a cohort of patients with EOPA-JRA with distinct clinical characteristics.     

Distraction vs remodeling surgery for craniosynostosis

Objects We designed several distraction devices and applied these instruments in 14 patients with varying types of craniosynostosis. The aim of this report is to clarify the advantages and disadvantages of these surgical methods and to discuss current concepts for the surgical strategy in the treatment of craniosynostosis. Methods From January 2000 to July 2005, 28 patients with craniosynostosis were retrospectively analyzed. Surgical treatment was performed on 14 patients using the distraction method with internal distraction devices that we designed, in which 5 patients had plagiocephaly, 3 brachycephaly, and 6 scaphocephaly. All patients underwent preoperative and postoperative evaluations, which included the patient’s neurological state, and three-dimensional CT. Results With distraction devices, the time required for the surgery could be shortened almost 3 1/3 h; the bleeding during the surgery was decreased with reduced requirement of more than 200 ml of blood transfusion as compared with remodeling surgery. Postoperatively achieved distraction distances varied from 30.0 to 47.5 mm (mean, 42.99 mm). The average increased volume percent of cranium in distraction surgery group was 20.9% (range, −11.5 to 58.9%) after full distraction. Conclusion With distraction surgery, satisfactory cranial volume expansion and aesthetically pleasing morphological states were achieved in all cases, and the efficacy was statistically significantly high as compared with remodeling method.     

Changes in the molecular structure of mouse fetal astrocyte nucleosomes produced in vitro by methylmercuric chloride

The fluorescent probe N-(3-pyrene)maleimide, which specifically labels the cysteine residues of histone H3 within the nucleosome, was used to monitor changes in the nucleosomal structure of mouse fetal astrocytes exposed to varying concentrations of methylmercuric chloride. Methylmercuric chloride treatment (10 microM) for 6 hr produced a significant decrease in the degree of fluorescence of the probe. The decrease was much smaller following a 4-hr incubation period. These results correlate with recent observations showing that significant changes in the thymidine labeling index occur following 4-6 hr of exposure to methylmercury (MeHg). It is hypothesized that MeHg enters the cells during the growth phase and attaches to the protein moiety of the nucleosome in or near the cysteine groups of histone H3, thus diminishing the binding capacity of the fluorescent probe. Addition of a detergent (sodium dodecyl sulfate) resulted in only a small increase in the degree of fluorescence of the treated nucleosomes as compared to controls, showing that the interaction of MeHg with the nuclear proteins was not dissociated by detergent. In view of the strong interaction between DNA and the histone dimer H3-H4 and the potential importance of the latter in gene regulation, these results suggest an additional means by which MeHg may exert its toxic effects.     

Transbronchial needle aspiration in the diagnosis of bronchogenic carcinoma

Transbronchial needle aspiration (TBNA) was performed as a diagnostic procedure in 91 consecutive patients ultimately proven to have bronchogenic carcinoma. Results of TBNA were compared, in the same patients, to the diagnostic yield of cytologic examination of sputum, endobronchial brushings and washings, and endobronchial/transbronchial biopsy. The diagnostic yield for sputum was 13 percent (10 of 75); brushings, 40 percent (34 of 84); washings, 29 percent (26 of 89); biopsy, 56 percent (42 of 75); and TBNA, 45 percent (41 of 91). Aspirates were positive in 35 percent of patients with adenocarcinoma, 41 percent with squamous cell carcinoma, 52 percent with large cell undifferentiated carcinoma, and 55 percent of patients with small cell carcinoma. Carinal aspirates were positive in 54 percent (6 of 11); paratracheal aspirates, 57 percent (13 of 23); parabronchial aspirates, 39 percent (11 of 28); endobronchial, 78 percent (7 of 9), and peripheral mass or solitary pulmonary nodule, 40 percent (17 of 42). The overall diagnostic yield for brushings, washings, and biopsy was 64 percent. The addition of TBNA increased the yield to 71 percent. Bronchogenic carcinoma was diagnosed solely by TBNA in six patients, all with extrabronchial or extratracheal lesions. We conclude that TBNA increases the diagnostic yield of bronchoscopy, particularly in patients with extratracheal and extrabronchial lesions. An equally important observation is that TBNA fails to contribute significantly to the diagnosis of cancer in patients with lesions readily accessible by conventional bronchoscopic techniques. Exceptions to this observation include occasional patients with necrotic endobronchial tumors, submucosal lesions, and rarely patients with peripheral lung nodules or masses.     

Treatment of persistent and recurrent nasopharyngeal carcinoma by brachytherapy

The early results of brachytherapy for persistent and recurrent nasopharyngeal carcinoma in 30 patients is presented. Fifteen patients were treated by intracavitary caesium, 12 patients were treated by interstitial gold grain implant using the split-palate approach and three patients were treated by both intracavitary caesium and interstitial gold grain implant for the first and second relapse in the nasopharynx, respectively. The overall tumour control rate for intracavitary caesium was 5/18 (28%) with median follow-up of 25.2 months, and for interstitial gold grain implant it was 9/14 (64%) with median follow-up of 16.5 months. Interstitial gold grain implantation appears to be effective in the treatment of persistent and recurrent nasopharyngeal carcinoma.     

In vivo insulin resistance induced by amylin primarily through inhibition of insulin-stimulated glycogen synthesis in skeletal muscle

We examined the in vivo mechanisms of amylin-induced resistance in concious rats (n = 18). During 180-min euglycemic insulin-clamp (21.5 pmol.kg-1.min-1) studies, amylin (50, 200, or 500 pmol.kg-1.min-1; plasma concentration from 3 x 10(-10) to 9 x 10(-9) M) infusion determined a 19-27% reduction in glucose uptake (117.8 +/- 7.0 vs. 145.8 +/- 11.0, 107.1 +/- 9.2 vs. 145.1 +/- 6.7, and 105.0 +/- 7.2 vs. 144.4 +/- 7.0 mumol.kg-1.min-1 at 50, 200, or 500 pmol.kg-1.min-1, respectively, P less than 0.01) versus insulin alone, whereas 10-pmol.kg-1.min-1 amylin infusion (plasma concn 5 x 10(-11) M) failed to affect insulin-mediated glucose disposal. After amylin infusion, the contribution of whole-body glycolysis to overall glucose disposal increased from 43-48 to 62-79%, whereas muscle glycogen synthesis decreased significantly at all peptide concentrations greater than 3 x 10(-10) M, completely accounting for the decrease in glucose uptake. Skeletal muscle glucose-6-phosphate concentration rose from 0.219 +/- 0.038 mumol/g (insulin alone) to 0.350 +/- 0.018, 0.440 +/- 0.020, and 0.505 +/- 0.035 mumol/g (insulin plus amylin at 50, 200, or 500 pmol.kg-1.min-1, P less than 0.01). Suppression of hepatic glucose production by insulin was unaffected by a 50-pmol.kg-1.min-1 amylin infusion (18.5 +/- 4.3 vs. 21.7 +/- 2.9 mumol.kg-1.min-1), whereas it was slightly but significantly impaired by amylin infusion at 200 pmol.kg-1.min-1 (17.8 +/- 3.9 vs. 24.7 +/- 4.5 mumol.kg-1.min-1, P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)