Familial Juvenile Nephronophthisis in Two Siblings — Histological Findings at an Early Stage —

We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN.     

Fulminant childhood hemophagocytic syndrome mimicking histiocytic medullary reticulosis. An atypical form of Epstein-Barr virus infection.

Ten cases of pediatric fulminant hemophagocytic syndrome, encountered between 1986 and 1989, are described. They occurred in the summer, and the patients presented with fever, jaundice, hepatosplenomegaly, pancytopenia, coagulopathy, and abnormal liver function. Bone marrow studies revealed infiltration by atypical T-lymphoid cells, rare B immunoblasts, and mature histiocytes with hemophagocytosis. Initially, histiocytic medullary reticulosis was suspected in six cases. The clinical course was characterized by rapid deterioration, with a mean period of 16 days from onset of fever to death. The main causes of death were coagulopathy with multiple organ failure and opportunistic infection. In seven of eight cases studied by serologic assay and Southern blot hybridization, acute or active Epstein-Barr virus (EBV) infection was documented. It is suggested that an atypical or fulminant form of primary EBV infection distinct from classic infectious mononucleosis was prevalent in previously healthy children in Taiwan. Younger age involvement and seasonal clustering were characteristic of the disorder described.     

Single- and multiple-dose pharmacokinetics of ceftazidime in infected patients with varying degrees of renal function

To determine the single- and multiple-dose ceftazidime kinetics, we administered ceftazidime, 2 gm intravenous bolus every 12 hours, to 14 infected Chinese patients with various degrees of renal function. Blood samples were drawn in serial after the first and 7th dose and serum ceftazidime concentrations were measured by high pressure liquid chromatography. Ceftazidime concentration-time data were fitted to a two-compartment model with a nonlinear regression program. Ceftazidime kinetics was unaltered by repeated dosing. Both total body clearance and elimination rate constant of ceftazidime decrease significantly in proportion to the creatinine clearance estimated by Bjornsson's method. Renal insufficiency did not modify the steady-state volume of distribution (Vdss) of ceftazidime which, however, appeared to be larger than those reported previously. This larger Vdss may be explained by acute infection process, confinement to bed, and increased extracellular fluid volume as a result of hypoalbuminemia. Our study indicates the estimated creatinine clearance as a useful guide to ceftazidime dosage adjustment and also emphasizes the clinical relevance of conducting kinetic studies of antibiotics in infected patients.     

Relative and absolute bioavailability of cibenzoline capsules and tablets in healthy subjects

Eighteen healthy adult volunteers completed an open-label, four-way crossover study designed to determine the bioequivalency of 160-mg cibenzoline [2-(2,2-diphenylcyclopropyl)-4,5-dihydro-1H-imidazole] capsules and tablets, their relative bioavailability compared with an oral solution of the drug, as well as the absolute bioavailability of these dosage forms compared with an intravenous infusion of the drug. Blood samples obtained at specified times after drug administration were assayed for cibenzoline by HPLC, and pharmacokinetic parameters were estimated from the resulting plasma concentration-time profiles. Comparisons were made between the tablet and capsule to assess bioequivalency, between the solid dosage forms and a solution to assess relative bioavailability, and between the oral forms and an intravenous infusion to assess absolute bioavailability. The pharmacokinetic parameters for each oral dosage form were similar and ratios of mean parameters indicated that the solid dosage forms were bioequivalent and completely bioavailable relative to an oral solution. The ratios of the area under the plasma concentration-time profiles (AUC) for the capsule, tablet, and oral solution to that of the intravenous infusion were 0.85, 0.83, and 0.86, respectively, indicating that orally administered cibenzoline has an absolute bioavailability of approximately 85%.     

Metastatic septic endophthalmitis in pyogenic liver abscess

In a consecutive series of 180 patients with pyogenic liver abscess, three patients (two men and one woman, between 46 and 75 years of age) had metastatic Klebsiella endophthalmitis. The incidence of metastatic endophthalmitis was 1.7% in patients with pyogenic liver abscess, 5.2% in patients with Klebsiella liver abscess, and 7.8% in patients with Klebsiella liver abscess having Klebsiella bacteremia. Despite aggressive therapeutic measures, the men permanently lost their vision and the woman eventually required an evisceration of her right eye. Delayed recognition and/or treatment as well as the nature of bacteria probably contributed to the tragic outcome. The findings suggest that a high index of suspicion is critical and a combined effort of the internist and ophthalmologist is mandatory.     

Validation of the Taiwan Birth Registry using obstetric records.

BACKGROUND AND PURPOSE: Birth certificates are a major source of population-based data often used in maternal and child health research, but their value depends upon the level of accuracy of the data. The purpose of this study was to assess the validity of the birth registry data in Taiwan. METHODS: Obstetric records of a total of 2779 infants born at a municipal hospital in Taipei between 1995 and 1997 were abstracted and linked to the Taiwan Birth Registry (TBR). Concordance was presented by agreement percentages for various birth characteristics including gender, birth order, birth weight, and gestational age. Concordance was further assessed using Cohen's k and sensitivity/specificity for both birth weight and gestational age, with both variables categorized according to their customary definitions. RESULTS: Missing data for specific items in the TBR ranged from 0% (gender) to 1.6% (birth order). The birth registry accurately reported all 4 selected items, with the highest and lowest concordance percentage noted for gender (99.0%) and gestational age (88.3%), respectively. The level of agreement indicated by the Cohen's k statistic ranged from 0.92 to 0.96 for birth weight and gestational age when both variables were treated as categorical variables. CONCLUSIONS: The TBR showed a low rate of missing information and high levels of validity for the elements frequently used in maternal and child health research in Taiwan.     

异氟醚控制性降压对颅内动脉瘤夹闭术血中S100B含量的影响

目的　测定颅内动脉瘤夹闭前后血中S1 0 0B蛋白含量 ,研究异氟醚控制性降压对脑功能的影响。方法　择期颅内动脉瘤夹闭术病人 30例 ,ASAⅠ～Ⅱ级 ,随机分为两组 :异氟醚降压组 (n=1 5 )和异氟醚非降压组 (n =1 5 )。非降压组术中吸入 1MAC异氟醚维持麻醉。降压组行异氟醚控制性降压 ,平均动脉压下降幅度 30 %～ 4 0 % ,夹闭动脉瘤后降低异氟醚吸入浓度 ,终止降压。分别于切皮前、动脉瘤夹闭后即刻、2、4h、术后第 1、2天取血测定S1 0 0B蛋白含量 ,并于术后 1周随访病人 ,记录有无术后神经系统并发症。结果　 (1 )异氟醚降压后 30min平均动脉压由诱导前的 (95 2± 1 2 3)mmHg降至 (5 8 8± 5 4 )mmHg ,停止降压后 30min血压回升至 (75 1± 8 3)mmHg。降压后外周血管阻力及心肌收缩加速度下降 ,但心率及心输出量均无显著性变化 ;(2 )异氟醚降压组与非降压组间同一时间点血中S1 0 0B蛋白浓度无明显差异。降压组术后第 1天及第 2天血中S1 0 0B蛋白浓度均显著升高 (F =2 94 4 ,P =0 0 1 8)。结论　在颅内动脉瘤夹闭术中应用异氟醚控制性降压可能加重了术后脑损伤 ,不利于病人围麻醉期脑功能的保护     

Correction of keratoconus with rigid gas-permeable contact lenses

This study analyzed the feasibility of fitting keratoconus-affected corneas with nonkeratoconus rigid gas-permeable (RGP) contact lenses. We retrospectively studied patients with a diagnosis of keratoconus in the past 10 years who were fitted successfully with nonkeratoconus RGP lenses by the same physician. Results confirmed nonkeratoconus RGP lenses as the first-line correction tool. Additionally, we found a simple equation to speed the choice of the base curves of the lenses. The authors have stated that they do not have a significant financial interest or other relationship with any product manufacturer or provider of services discussed in this article.     

中国男性原发不育的遗传高风险因子:Y染色体DAZ基因拷贝缺失

目的 探讨Y染色体无精症因子C区(azoospermia factor C，AZFe)无精症缺失基因(deleted-in-azoospermia，DAZ)家族基因拷贝缺失与中国男性原发不育之间的关系。方法 运用多重PCR与PCR-RFLP检测技术，对210例已生育男性、216例原发无精症与189例严重少精症患者Y染色体AzFc区域DAZ基因家族的基因拷贝数进行分析。结果 在所有已生育男性中未检出DAZ基因拷贝的完全或部分缺失，而在原发无精症与严重少精症患者中DAZ基因拷贝完全缺失率分别为8．8％和12．2％，DAZ1／DAZ2共缺失率分别为8．3％和5．3％。结论 在中国男性原发无精症与严重少精症患者中存在较高频率的DAZ基因拷贝缺失现象，提示Y染色体AZFc区域DAZ基因家族基因拷贝的完全与部分缺失是中国男性原发不育的遗传高风险因子。