Klinefelter's Syndrome: Hypogonadism,abnormal carbohydrate metabolism. Is it a result of biotin deficiency?

The aetiology of Klinefelter's Syndrome is not known. The causative factor(s) must explain the hypogonadism, low androgen levels, the disordered carbohydrate metabolism and the commonly associated psychiatric conditions. A biotin deficient/dependent state can account for the above. A biotin deficient Klinefelter's Syndrome patients with the above is described. The possible role of biotin in the primary, secondary and tertiary prevention of Klinefelter's Syndrome needs further research.     

Guidance of dopaminergic neuritic growth by immature astrocytes in organotypic cultures of rat fetal ventral mesencephalon.

Astrocytes, with their many functions in producing and controlling the environment in the brain, are of great interest when it comes to studying regeneration after injury and neurodegenerative diseases such as in grafting in Parkinson's disease. This study was performed to investigate astrocytic guidance of growth derived from dopaminergic neurons using organotypic cultures of rat fetal ventral mesencephalon. Primary cultures were studied at different time points starting from 3 days up to 28 days. Cultures were treated with either interleukin-1 beta (IL-1 beta), which has stimulating effects on astrocytic proliferation, or the astrocytic inhibitor cytosine arabinoside (Ara-C). Tyrosine hydroxylase (TH)-immunohistochemistry was used to visualize dopaminergic neurons, and antibodies against glial fibrillary acidic protein (GFAP) and S100 beta were used to label astrocytes. The results revealed that a robust TH-positive nerve fiber production was seen already at 3 days in vitro. These neurites had disappeared by 5 days. This early nerve fiber outgrowth was not guided by direct interactions with glial cells. Later, at 7 days in vitro, a second wave of TH-positive neuritic outgrowth was clearly observed. GFAP-positive astrocytic processes guided these neurites. TH-positive neurites arborized overlying S100 beta-positive astrocytes in an area distal to the GFAP-positive astrocytic processes. Treatment with IL-1 beta resulted in an increased area of TH-positive nerve fiber network. In cultures treated with Ara-C, neither astrocytes nor outgrowth of dopaminergic neurites were observed. In conclusion, this study shows that astrocytes play a major role in long-term dopaminergic outgrowth, both in axonal elongation and branching of neurites. The long-term nerve fiber growth is preceded by an early transient outgrowth of dopamine neurites.     

慢性肝病和肝癌中HCV核心区三种寡肽抗原的抗体检测

检测１４８例慢性肝病和肝癌患者血清中丙型肝炎病毒核心区３种寡肽抗原的抗体，结果显示其阳性率在慢性迁延型肝炎、慢性活动型肝炎、肝炎肝硬化和原发性肝癌患者分别为７．７％，２３．１％，，２３．５％和１６．３％。在抗体阳性者中８０％以上有乙型肝炎病毒感染证据，提示我国ＨＢＶ和ＨＶＣ重叠感染较为常见。     

Lymph node metastases in the neck and parotid gland from an unknown primary melanoma

A lymph node metastasis in the neck or parotid region from an unknown primary melanoma is an uncommon occurrence. Out of a total of 300 patients with head and neck melanoma treated at the Netherlands Cancer Institute between 1976 and 1992, 17 (5.7%) presented in this way. The most common site for metastatic lymph nodes (18 nodes in 17 patients) was level V (n= 7), followed by the parotid region (n= 4), level II (n= 4), level III (n= 2), and level IV (n= 7). Two patients had local excision of the neck node metastasis only, while the remaining 15 patients underwent more extensive surgical treatment. The 5-year disease-specific survival rate in this group was 48%, with a median survival of 36 months, which is more or less similar to the prognosis of stage II melanoma of the head and neck with a known, surgically treated primary tumour. No relation was found between disease-free interval and sex, the number of positive lymph nodes or the duration of symptoms.     

Scintigraphic evaluation of hepatic blood flow after intrahepatic portosystemic shunt (TIPS)

In patients with liver cirrhosis a transjugularly placed intrahepatic portocaval shunt (TIPS) is a non-surgical portosystemic device which aims to reduce portal venons pressure. In comparison with Doppler sonography, we evaluated in 28 patients the diagnostic impact of liver perfusion scintigraphy (with technetium-99m diethylene triamine penta-acetic acid) in the assessment of changes in the hepatic blood flow after TIPS shunting. The arterial and portal contributions to hepatic flow were calculated from the areas under the biphasic timeactivity curve. In the course of TIPS shunting, patency is threatened by reocclusion. Angiography is the gold standard for TIPS shunt reassessment. However, there is a need for a less invasive diagnostic procedure, such as scintigraphy or Doppler sonography, for the early detection of shunt insufficiency. Scintigraphy demonstrated that prior to TIPS shunting the portal venons contribution to hepatic perfusion was reduced to 29.2%, this reduction being due to portal hypertension. After TIPS placement a significant increase in portal venous perfusion was observed (38.2%;P<0.02). TIPS shunt occlusion was identified in patients by a significant reduction in the scintigraphically measured portal venons contribution to hepatic blood flow. Hepatic perfusion scintigraphy appears to be a valuable method to determine the immediate effect of TIPS on hepatic blood flow. Post-TIPS follow-up studies of hepatic haemodynamics by liver perfusion scintigraphy appear able to contribute to the detection of TIPS shunt occlusion before the clinical consequences of this complication have become apparent.     

Primary Aldosteronism

ABSTRACT A follow-up examination was performed one month to 20 years after adrenalectomy in 28 cases with surgically treated primary aldosteronism due to adrenal adenoma. The mean age at diagnosis was 45, and the mean duration of hypertension seven years. Severe hypertension with a diastolic blood pressure of 130 mmHg or more was observed in 35%. Postoperatively cerebrovascular catastrophe developed in two cases, both of which belonged to the group of patients with severe hypertension. Normalization of blood pressure was observed in 70% and in the remaining subjects the blood pressure was lower than at diagnosis. The blood pressure response to adrenalectomy appeared unpredictable in view of such parameters as the initial blood pressure, age at diagnosis, and duration of the hypertensive state. Toxicosis during pregnancy and metrorrhagia was observed with unexpectedly high frequency in this study population. Low ambulatory plasma renin activity was recorded at the follow-up in 15 out of 18 subjects studied in the absence of evidence of hyperaldosteronism.     

Sarcoidosis and primary biliary cirrhosis

Summary An unusual case of a woman with primary biliary cirrhosis and cutaneous sarcoidosis is described. The factors that allow a specific diagnosis of each condition are presented and the literature pertaining to such complex and unusual cases is presented.This work was supported in part by a grant from the Gastroenterology Medical Research Foundation of Southwestern Pennsylvania.     

十二指肠乳头括约肌切开胆总管取石术前静注咪唑安定对麻醉及手术效果的影响

目的　探讨在十二指肠乳头括约肌切开 (EST)胆总管取石术前静注咪唑安定的可行性及价值。方法　将 71例拟行 EST胆总管取石患者随机分为咪唑安定组 (试验组 ) 5 1例和对照组 (2 0例 ) ,两组术前均给予 6 5 4 -2 (10 mg)静脉注射 ,试验组同时静脉注射咪唑安定 (3～ 5 mg)。观察两组患者的进镜时间、麻醉程度 ,患者的反应与配合程度、自身感受程度 ,同时监测患者的血压、心率、血氧饱和度。结果　试验组进镜时间缩短、镇静程度适中、患者自身感受好 ,与对照组比较 ,差异有显著性 (P<0 .0 1) ;患者心血管及呼吸参数无明显变化。结论　EST胆总管取石术前静脉注射咪唑安定可提高麻醉效果 ,有利于提高患者配合的依从性 ,对血压、心率、血氧饱和度无明显影响     

Multiple primary malignancies in Japanese patients with renal cell carcinoma

AIM: To evaluate the incidence, nature and prognosis of multiple primary malignancies involving renal cell carcinoma (RCC) in Japan. METHODS: Between 1975 and 1998, 319 patients underwent an operation for RCC at Hokkaido University, Sapporo, Japan. The incidence of other primary malignancies was determined and classified as antecedent, synchronous or subsequent. Follow-up was obtained by thorough chart review or telephone interview, and ranged from 0 to 276 months (median 49.0 months). To analyze the influence of other primary malignancies on prognosis, overall and cause-specific survival rates of the patients with an antecedent or synchronous malignancy were compared to the remaining patients. RESULTS: Of the 319 patients there was at least one other malignancy in 38 patients (12%). Four patients had two other malignancies. The other malignancies were antecedent in 13, synchronous in 19 and subsequent in 10 patients. Twenty-two patients had gastrointestinal cancer. In cases of antecedent or synchronous diagnosis of other primary malignancies, RCC was commonly incidental, small or low-stage. Multivariate analysis using Cox's proportional hazards model showed that, for overall survival, the presence of other antecedent or synchronous malignancies was the second most significant prognostic factor, following the pathological stage of RCC. CONCLUSIONS: In Japanese patients with RCC, the incidence of other primary malignancies was not uncommon and these malignancies contributed to the prognosis of these patients. Therefore, the malignant potential of individual tumors should be paid careful attention in the management of these patients.     

慢性乙肝患者血清细胞因子、乙肝病毒与肝纤维化的关系

目的：探讨慢性乙肝患血清细胞因子（TGF－β，TNF-α，IL-6，IL-8），乙肝病毒（HBV）对肝纤维化（HA，PCⅢ，C-Ⅳ，LN）的影响作用。方法：采用ELISA和RIA方法检测171例慢性乙肝患血清TGF－β，TNF-α，IL-6，IL-8，HLA，PCǚ，C-Ⅳ，LN的水平，HBV－DNA定量检测采用PCR方法。结果：慢性乙肝患血清TGF－β，TNF-α，IL-6，IL-8，HA，PCⅢ，C-Ⅳ，LN的含量均不同程度高于对照组，且随肝损害程度的加重而升高，与肝损害程度呈正相关关系（P＜0．05或P＜0．01）；须血清TGF－β1水平与血清HA，PCⅢ，C-Ⅳ，LN水平具有直线相关关系。HBV－DNA阳性组（Ⅱ组）均高于HBV－DNA阴性组（I组），且在慢性中，重度肝炎间差异显（P＜0．05）。结论：血清TGF－β，TNF-α，IL-6，IL-8参与慢性乙肝的发病机制及肝纤维化的形成，且与病毒复制的活跃程度相关。