Patients with Fabry disease on dialysis in the United States.

BACKGROUND.: Fabry disease results from an X-linked deficiency of lysosomal alpha-galactosidase A and is a rare cause of end-stage renal disease. Little is known about the characteristics of patients with Fabry disease that initiate dialysis in the United States, although data from Europe suggests these individuals have a poor survival. METHODS.: Using the United States Renal Disease System database, we first studied in detail 42 Fabry patients who initiated dialysis between April 1995 (following the introduction of the new detailed HCFA 2728 form) and July 1998. To examine crude survival in a larger cohort, 95 Fabry patients were studied who initiated dialysis between 1985 and 1993, similar to the European Registry. Diabetic and non-diabetic controls matched by age, gender, race, year of dialysis initiation, and initial dialysis modality were examined for comparison. RESULTS.: During the years 1995 to 1998, the mean age of Fabry patients that initiated dialysis was 42 years, 83% were Caucasian, and 10% were African American. Despite the X-linked inheritance of Fabry disease, 12% of Fabry patients on dialysis were female. At initiation of dialysis mean serum albumin and creatinine were significantly higher and mean body mass index was significantly lower among Fabry patients, but mean glomerular filtration rate was similar to controls. Fabry patients tended to have a lower three-year survival compared to non-diabetic controls, but the results were not significantly different. In a larger cohort of Fabry patients who initiated dialysis between 1985 and 1993, the three-year survival of Fabry patients was significantly lower than non-diabetic controls: 63% (95% CI, 50 to 75%) versus 74% (95% CI, 67 to 80%; P=0.03). CONCLUSION.: End-stage renal disease is associated with significant morbidity and mortality among patients with Fabry disease. Recent evidence that progression of Fabry disease may be attenuated by enzyme replacement therapy necessitates increased awareness of Fabry disease and its comorbidities.     

Prof. Ye Chuanhui''s Experience in Treating Nephritic Proteinuria

In the occurrence and development of glomerulonephritis, proteinuria is themain manifestation, which is easily recurrent but not easily got rid of in a short period of time. It may remain even after disappearance of the general symptoms. In some patients, there are no symptoms and signs at all in the initial stage, except proteinuria, the only distinct manifestation. Prof. Ye Chuanhui, from Chengdu University of Traditional Chinese Medicine, has accumulated rich experience for treating this disorder, which is introduced in the following.     

Aetiology and outcome of severe community-acquired pneumonia in children admitted to a paediatric intensive care unit.

OBJECTIVE: To determine the aetiological agents and outcome of severe community-acquired pneumonia (SCAP) in children admitted to the paediatric intensive care unit (PICU) at Kalafong Hospital, Pretoria. PATIENTS AND METHODS: An audit was done after a protocol was implemented to identify the aetiological agents in children with life-threatening SCAP admitted to the PICU from the emergency room. The following investigations were done as per protocol: blood culture, culture of the tracheal aspirate, immunofluorescence and culture of the nasopharyngeal aspirate, microscopy and culture of the gastric juice for Mycobacterium tuberculosis, and determination of HIV status. The following data, documented prospectively, were obtained from patient records: date of admission, age, gender, weight, duration of ventilation, duration of stay in the PICU, survival or death, and severity of illness as determined by means of the score for acute neonatal physiology (SNAP) or paediatric risk of mortality (PRISM) score depending on the child's age. RESULTS: Twenty-three children were admitted over a 1-year period (1 November 1994-30 October 1995). Their median age was 10 weeks (range 2 weeks-5 years) and the sex distribution was equal. Two children were HIV-infected. Twenty children received mechanical ventilation for a median period of 6.5 days (range 2-16 days). Aetiological agents were identified in 15/23 children (65%). Respiratory syncytial virus (RSV) was the most common pathogen, identified in 7/23 children, Klebsiella pneumoniae was the most common bacterial pathogen, identified in 5 children (2 blood cultures and 3 tracheal aspirates). Tuberculosis was not diagnosed. The mean PRISM score was similar in survivors and children who died. The case fatality rate was 30%. The 7 children who died had a median arterial oxygen tension/fraction of inspired oxygen (PaO2/FiO2) ratio of 94 (range 32-111) and the 16 survivors had a median ratio of 146 (range 51-252) (P = 0.01) on admission. Both HIV-infected children died and postmortem examination showed a pneumonia due to Pneumocystis carinii and cytomegalovirus. CONCLUSIONS: SCAP occurs in very young children. One or more pathogens were isolated in 65% of cases. Viral pathogens predominated, with RSV being the most common. The yield of positive blood cultures was low at 17%. Streptococcus pneumoniae and Haemophilus influenzae were not found. The case fatality rate was 30% and death was more likely with a low PaO2/FiO2 ratio on admission.     

6815例腰椎间盘突出症的手术治疗

目的：探讨腰椎间盘突出症的手术治疗方法。方法：采用脊神经后支阻滞麻醉屈曲位经椎板间隙侧方入路椎间盘摘除术，双开窗扩大减压治疗中央宽基底型椎间盘突出钙化，小切口开窗潜行减压髓核摘除术等三种方法共治疗腰椎间盘突出症6815例。结果：6815例患者中5324例经过半年至14年（平均6．3年）随访，优4260例（80．02％），良855例（16．06％），进步209例（3．92％），优良率达96．08％。随访中X线检查显示手术后相应椎间隙不同程度的变窄，未见腰椎失稳和腰椎滑脱。结论：采用的三种方法与传统术式比较创伤小，可最大限度地保留腰椎后部结构的完整性，且手术时间短，康复快。     

大肠肿瘤组织中EB病毒的原位杂交检测

目的：探讨EB病毒感染与人大肠癌发生的关系。方法：用原位分子杂交法对130例人大肠癌标本中EB病毒小分子RNA片段进行检测。结果：130例标本中有6例（4.48％）癌组织呈阳性反应，其中4例为男性，4例有明显淋巴细胞浸润。结论：EB病毒感染可能与我国部分大肠腺癌的发生有关，肿瘤细胞间质中大量淋巴细胞浸润可能是EB病毒感染的重要病理学特征。     

选择性环氧化酶—2抑制剂的研究现状及应用评价

选择性环氧化酶（COX）-2抑制剂可有效地治疗炎症，同时避免或减轻由于抑制COX-1而导致的毒副作用。有乐观的临床应用前景，但其不良反应亦不容忽视，寻找临床评价好的选择性COX-2抑制剂是当前非甾体类抗类药物研究的重点。     

PRK术后转化生长因子β1mRNA表达的实验研究

目的：探讨准分子激光角膜切削术（PRK）后转化生长因子β1（TGF－β1）在角膜伤口愈合和解膜雾状混浊发病机制中的作用。方法：将24只新西兰大白兔（24只眼）随机分为正常组（n＝4）和手术组(n=20)。手术组每只左眼行PRK术，术中采用准分子激光器，角膜中央激光去上皮，然后按－10.00D近视进行切削，分别于术后第7d,14d,28d和3月于裂隙灯下观察记录角膜haze的变化并处死动物，将角膜组织制成石蜡切片，应用原位杂交技术检测角膜缲TGF－β1mRNA的表达。结果：①从术后第7d开始，术眼均不同程度地发生了角膜haze，严重者可达3级，haze高峰约在术后第28d。②正常角膜上皮中TGF－β1mRNA有低水平表达，PRK术后第7d,14d和28d，角膜上皮TGF－β1mRNA表达明显增高。术后3月已开始降低；正常组角膜基质中未检测出TGF－β1mRNA，术后第7d,14,和28d，角膜基质中TGF－β1mRNA表达明显增高，术后3月已开始降低。结论：TGF－β1可能参与了PRK术后的伤口愈合，它可能通过促进角膜基质细胞的增殖和细胞外基质的合成而促进角膜haze的发生。     

De-coupling of cognitive performance and cerebral functional response during working memory in schizophrenia.

Working memory dysfunction is considered to be fundamental to the cognitive and clinical features evident in schizophrenia. Functional neuroimaging studies have begun to elucidate the neurobiological basis of such deficits, however, interpretation of these studies may be confounded by performance impairment, when the cognitive load exceeds the limited response capacity of patients with schizophrenia. In this study, patients were pre-selected on the basis of intact performance on a relatively low-load verbal working memory task, in order to mitigate against performance confounds. Subjects included 20 right-handed male subjects with chronic schizophrenia, and 20 right-handed, age-matched, male healthy controls, without personal or familial psychiatric history. All subjects underwent fMRI scanning whilst performing a verbal n-back task. There were no significant between-group differences in target identification; the patient group showed a significantly increased mean response latency. Both groups demonstrated robust fronto-parietal activation. In the control subjects, the power of functional response was positively correlated with reaction time in bilateral posterior parietal cortex, however, this coupling of behavioural performance and cerebral response was not evident in the patients. This deficit, apparent within the performance capacity of the patients, may represent a fundamental abnormality in schizophrenia, and may compromise performance at higher cognitive loads.