Wilson's disease in children: 37-year experience and revised King's score for liver transplantation.

Wilson's disease (WD) is a rare liver-based disorder of copper metabolism. Prognostic criteria described by our group in 1986 to predict death without transplantation have not been universally validated. The clinical features of 88 children were reviewed, retrospectively in 74 and prospectively in 14. Data from the retrospectively recruited patients that died or survived on long-term chelation were used to evaluate the validity of our old scoring system and to devise a new prognostic index, then assessed in the 14 prospectively recruited patients. Using the old scoring system, 5 children scoring > or = 7, the cutoff value for death without transplantation, survived, whereas 4 scoring < or = 7 died (sensitivity 87% and specificity 90%). A new index based on serum bilirubin, international normalized ratio, aspartate aminotransferase (AST), and white cell count (WCC) at presentation identified a cutoff score of 11 for death and proved to be 93% sensitive and 98% specific, with a positive predictive value of 88%. When the new index was evaluated prospectively in 14 patients, it predicted the need for transplantation in only the 4 who required it, although 1 child with a score of 11 survived on medical treatment. In conclusion, the new Wilson Index is more sensitive and specific in predicting mortality without transplantation than the old scoring system, but needs to be validated in a larger number of patients.     

Carcinoma of the thyroid in black patients.

In the period from January 1, 1976 to December 31, 1988, we reviewed the charts of 33 patients treated for carcinoma of the thyroid at Howard University Hospital. The three non-black patients (two Whites and one Pakistani) were excluded from the study. There were 19 females and 11 males. Of the 30 cases elevated, 10 were papillary, 7 were follicular variant of papillary, 8 were follicular, 3 were undifferentiated (anaplastic), and 2 were medullary. Ten patients had either distant metastasis (Hoffman, South Med J 80:741, 1987) or locally advanced disease in the neck (Woolner et al., Am J Surg 102:354, 1961.) at the time of diagnosis. The treatment of these lesions depended on, among other variables, the cell type, the extent of the lesion, and the personal preference of the attending surgeon. Carcinoma of the thyroid remains an uncommon lesion in Black patients. Because of its rarity, the diagnosis may often be delayed and, as a result, patients may first come to attention with a more advanced stage of this disease. To prevent this occurrence, a high index of suspicion must be maintained for all thyroid nodules, and appropriate diagnostic steps taken. Diagnostic and treatment options are discussed.     

Residents can be trained to detect abdominal aortic aneurysms using personal ultrasound imagers: a pilot study.

Our objective was to test the hypothesis that internal medicine residents can be trained to screen for abdominal aortic aneurysm (AAA) using personal ultrasound imagers. We trained 5 randomly chosen internal medicine residents to image the abdominal aorta for patients with risk factors for AAAs using personal ultrasound imagers. Residents were trained in 3 or 4 one-on-one sessions with an instructor. To be eligible, patients had to be older than 65 years and have hypertension. After training, each of the 5 residents studied 3 patients independently. In 12 of the residents' 15 unsupervised studies, their abdominal aorta measurements were within 5 mm of the instructor's measurements with standard echocardiography (mean difference 3 mm, range 0-6 mm). Residents detected 3 previously unknown AAAs measuring 5.2, 4.2, and 3.9 cm in diameter. We conclude residents can be trained to image the abdominal aorta with personal ultrasound imagers and to identify AAAs in patients at risk.     

Activation of mu- and delta-opioid receptors present on the same nerve terminals depresses transmitter release in the mouse hypogastric ganglion.

1. The inhibitory actions of mu- and delta-opioid receptor agonists on the strong, single fibre synaptic input to neurones contained in the mouse hypogastric ganglion have been examined. 2. The opioid agonists [D-Ala2,NMePhe4,Gly-ol5]enkephalin (DAMGO, 10 nM-10 microM), morphine (10-30 [D-Ser2,Leu5,Thr6]enkephalin (DSLET, 3 nM-1 microM), [D-Pen2,D-Pen5]enkephalin (DPDPE, 10 nM-10 microM), all depressed the single fibre, all-or-nothing, nicotinic, excitatory synaptic potential (e.p.s.p.) recorded in mouse hypogastric ganglion neurones. U50488H (0.3-1 microM) was without effect. 3. The effect of DSLET, but not that of DAMGO, was reversed by the delta-opioid receptor-selective antagonist, ICI 174864 (0.3 microM). Naloxone (0.3 microM) antagonized the effect of both DSLET and DAMGO. 4. The site of action of the mu- and delta-receptor agonists was on the presynaptic terminals, since at the concentrations which depressed the e.p.s.p. these drugs did not affect the resting membrane potential or input resistance of the postganglionic neurone body, nor did they depress the postganglionic, nicotinic response to exogenously applied acetylcholine. 5. Quantal analysis further confirmed the presynaptic site of action; mu- and delta-opioid receptor agonists decreased the mean number of quanta released per stimulus but did not reduce the mean amplitude of the quantal unit. 6. It was concluded that mu- and delta-opioid receptors were located on the same presynaptic nerve terminals since, in the same neurones, mu- and delta-opioid receptor agonists depressed the same single fibre inputs.(ABSTRACT TRUNCATED AT 250 WORDS)     

WONCA Online电子病例介绍——球孢子菌病

·病例简介:患者,男,22岁。因鼻部(见图1)、左侧肩部(见图2)、右侧背部及左侧大腿部皮疹就诊。既往身体健康,近期有到加利福尼亚中央谷旅游史,否认异地长期居住史,近期无服药史。患者无发热,无夜间盗汗,无寒战。既往诊断为耐甲氧西林金黄色葡萄球菌(MRSA)感染,接受甲氧苄氨嘧啶     

Effects of metyrapone on hypothalamic-pituitary-adrenal axis and sleep in women with post-traumatic stress disorder.

BACKGROUND: Metyrapone blocks cortisol synthesis which results in removal of negative feedback, a stimulation of hypothalamic corticotropin releasing factor (CRF) and a reduction in delta sleep. We previously reported a diminished delta sleep and hypothalamic-pituitary-adrenal (HPA) response to metyrapone in men with post-traumatic stress disorder (PTSD). In this study, we aimed to extend these findings to women. METHODS: Three nights of polysomnography were obtained in 17 women with PTSD and 16 controls. On day 3, metyrapone was administered throughout the day up until bedtime. Plasma adrenocorticotropic hormone (ACTH), cortisol, and 11-deoxycortisol were obtained the morning following sleep recordings the day before and after metyrapone administration. RESULTS: There were no significant between-group differences in hormone concentration and delta sleep at baseline. Relative to controls, women with PTSD had decreased ACTH and delta sleep responses to metyrapone. Decline in delta sleep was associated with the magnitude of increase in ACTH across groups. CONCLUSIONS: Similar to our previous findings in men, the ACTH and sleep electroencephalogram response to metyrapone is attenuated in women with PTSD. These results are consistent with a model of downregulation of CRF receptors in an environment of chronically increased CRF activity or with enhanced negative feedback regulation in PTSD.     

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter Is a Variant of the Former

We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 +/- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.