Reye's Syndrome

Reye''s syndrome (encephalopathy with fatty infiltration of the viscera) is an acute illness of childhood that produces hepatic dysfunction and metabolic encephalopathy. The disease is fatal in as many as 40% of cases. The cause is unknown. Several environmental agents, particularly salicylates and aflatoxin, have been implicated as possible toxins in this disorder. Treatment is directed at controlling intracranial pressure, reversing metabolic abnormalities and providing intensive supportive care. Normal neurologic function returns in most survivors.     

Experimental transmission of an autosomal dominant spongiform encephalopathy: does the infectious agent originate in the human genome?

Marmosets inoculated intracerebrally with brain tissue from a woman with Gerstmann-Straussler syndrome (an autosomal dominant dementia associated with spongiform change and amyloid deposition) developed an encephalopathy indistinguishable from that seen in marmosets inoculated with brain tissue from a typical case of Creutzfeldt-Jakob disease. As in Huntington''s disease, in the pedigree of the patient with Gerstmann-Straussler syndrome women who subsequently developed the illness had increased fecundity. The pathogen in human transmissible dementia may arise from a sequence (which itself sometimes confers a selective advantage) located within the human genome.     

引起AECOPD 精神神经异常的原因及治疗对策

目的：探讨引起慢性阻塞性肺疾病合并精神神经异常的原因,以制订有针对性的治疗对策。方法：回顾性分析我院自2010 年1 月到2013 年1 月期间收治的250 例慢性阻塞性肺疾病急性发作期患者的临床资料。结果：32 例患者出现精神神经异常症 状,占12.80%。其中17 例为肺性脑病,占53.13%（17/32）,8 例为低渗性脑病,占25.00%（8/32）,5 例为药物的不良反应,占15.63% （5/32）,2 例为脑梗死,占6.25%（2/32）。所有患者均给予慢性阻塞性肺疾病急性发作的常规治疗方案进行治疗,同时肺性脑病患 者给予积极纠正二氧化碳潴留;低渗性脑病患者给予积极纠正电解质紊乱;脑梗死的患者根据情况给予溶栓、脱水、营养脑神经、 抗凝、抗血小板聚集等治疗;药物不良反应的患者则给予停止应用相应的药物。经过治疗后,29 例症状恢复,占90.63%,3 例最终 死亡,死亡率为9.38%,其中2 例为肺性脑病患者,1 例为低渗性脑病患者。结论：对于慢性阻塞性肺疾病急性发作合并精神神经 异常的治疗,应根据患者的症状、体征以及辅助检查结果,尽早明确诊断,及时干预,尽快控制病情,防止病情恶化。     

Pertussis immunisation and serious acute neurological illness in children.

The first 1000 cases notified to the National Childhood Encephalopathy Study were analysed. The diagnoses included encephalitis/encephalopathy, prolonged convulsions, infantile spasms, and Reye''s syndrome. Eighty-eight of the children had had a recent infectious disease, including 19 with pertussis. Only 35 of the notified children (3.5%) had received pertussis antigen within seven days before becoming ill. Of 1955 control children matched for age, sex, and area of residence, 34 (1.7%) had been immunised with pertussis vaccine within the seven days before the date on which they became of the same age as the corresponding notified child. The relative risk of a notified child having had pertussis immunisation within that time interval was 2.4 (p less than 0.001). Of the 35 notified children, 32 had no previous neurological abnormality. A year later two had died, nine had developmental retardation, and 21 were normal. A significance association was shown between serious neurological illness and pertussis vaccine, though cases were few and most children recovered completely.     

Was Young's syndrome caused by exposure to mercury in childhood?

OBJECTIVE--To determine whether the incidence of chronic sinusitis, bronchitis, or bronchiectasis in men with obstructive azoospermia (Young''s syndrome) has fallen in men born after 1955 when calomel (mercurous chloride) was removed from teething powders and worm medication in the United Kingdom. DESIGN--A prospective study of aetiological factors in subfertile men with epididymal obstruction operated on between 1975 and 1993. SETTING--Central London. SUBJECTS--274 men with obstructive azoospermia undergoing epididymovasostomy; date of birth was recorded and illness in childhood, persistent nasal or respiratory symptoms, and previous urinary or genital infection were asked about. MAIN OUTCOME MEASURE--Site of epididymal block and association with possible aetiological factors, related to date of birth. RESULTS--146 men had hold up in the head of the epididymis (capital blocks): 119 (82%) had Young''s syndrome, and 11 gave a definite history of pink disease (mercury intoxication) in childhood. 128 had obstruction lower down towards the tail of the epididymis (caudal blocks): 64 (50%) had a history of genital or urinary infection, and only three had Young''s syndrome; none had had pink disease. The incidence of Young''s syndrome fell significantly from 114 (50%) of 227 men born up to 1955 to eight (17%) of 47 men born since then. CONCLUSIONS--The decline in incidence of Young''s syndrome in those born after 1955 is similar to that observed with pink disease, suggesting that both conditions may have had a similar aetiology--mercury intoxication.     

Dementia: Its Diagnosis and Medical Management

“Dementia” refers to a broad neurological syndrome marked by multifaceted intellectual loss. Primary and secondary forms exist. Alzheimer's disease, a primary dementia, is the most important cause of the syndrome. It has a well-defined pathology and a characteristic clinical presentation, but its etiology, or etiologies, remains unknown. No currently available medical therapy can reverse or arrest Alzheimer's disease. However, treatment of associated symptoms and attention to the needs of patients and their families can blunt some of the effects of this devastating illness.     

神经酸及其在预防和治疗脑病中的应用研究进展

神经酸是大脑神经细胞和组织中的一种核心天然成分,具有特殊的生物学功能, 对人体健康尤其是脑健康起到至关重要的作用。综述神经酸的生物功能和作用机制、神经酸的制备（包括从元宝枫油中提取分离、化学合成及转基因生物合成）以及神经酸在预防和治疗脑病（包括多发性硬化症、肾上腺脑白质营养不良、Zellweger 综合征、阿尔茨海默病等）中的应用研究进展。     

Mixed cryoglobulinemia

Primary biliary cirrhosis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. Affected individuals are usually in their fifth to seventh decades of life at time of diagnosis, and 90% are women. Annual incidence is estimated between 0.7 and 49 cases per million-population and prevalence between 6.7 and 940 cases per million-population (depending on age and sex). The majority of patients are asymptomatic at diagnosis, however, some patients present with symptoms of fatigue and/or pruritus. Patients may even present with ascites, hepatic encephalopathy and/or esophageal variceal hemorrhage. PBC is associated with other autoimmune diseases such as Sjogren's syndrome, scleroderma, Raynaud's phenomenon and CREST syndrome and is regarded as an organ specific autoimmune disease. Genetic susceptibility as a predisposing factor for PBC has been suggested. Environmental factors may have potential causative role (infection, chemicals, smoking). Diagnosis is based on a combination of clinical features, abnormal liver biochemical pattern in a cholestatic picture persisting for more than six months and presence of detectable antimitochondrial antibodies (AMA) in serum. All AMA negative patients with cholestatic liver disease should be carefully evaluated with cholangiography and liver biopsy. Ursodeoxycholic acid (UDCA) is the only currently known medication that can slow the disease progression. Patients, particularly those who start UDCA treatment at early-stage disease and who respond in terms of improvement of the liver biochemistry, have a good prognosis. Liver transplantation is usually an option for patients with liver failure and the outcome is 70% survival at 7 years. Recently, animal models have been discovered that may provide a new insight into the pathogenesis of this disease and facilitate appreciation for novel treatment in PBC.     

引起AECOPD精神神经异常的原因及治疗对策

目的：探讨引起慢性阻塞性肺疾病合并精神神经异常的原因,以制订有针对性的治疗对策。方法：回顾性分析我院自2010年1月到2013年1月期间收治的250例慢性阻塞性肺疾病急性发作期患者的临床资料。结果：32例患者出现精神神经异常症状,占12.80%。其中17例为肺性脑病,占53.13%（17/32）,8例为低渗性脑病,占25.00%（8/32）,5例为药物的不良反应,占15.63%（5/32）,2例为脑梗死,占6.25%（2/32）。所有患者均给予慢性阻塞性肺疾病急性发作的常规治疗方案进行治疗,同时肺性脑病患者给予积极纠正二氧化碳潴留;低渗性脑病患者给予积极纠正电解质紊乱;脑梗死的患者根据情况给予溶栓、脱水、营养脑神经、抗凝、抗血小板聚集等治疗;药物不良反应的患者则给予停止应用相应的药物。经过治疗后,29例症状恢复,占90.63%,3例最终死亡,死亡率为9.38%,其中2例为肺性脑病患者,1例为低渗性脑病患者。结论：对于慢性阻塞性肺疾病急性发作合并精神神经异常的治疗,应根据患者的症状、体征以及辅助检查结果,尽早明确诊断,及时干预,尽快控制病情,防止病情恶化。     

Triphasic AVP secretion in encephalopathy

A patient with encephalopathy developed triphasic changes in the clinical course, starting with diabetes insipidus (DI), then the syndrome of inappropriate ADH secretion (SIADH), and followed by the final phase of DI. The clinical course of encephalopathy was very rapid. The patient lost consciousness completely within only one day after the onset. During the early phase, he lapsed into a condition of "brain death". We could not identify the etiology of the encephalopathy. The triphasic change referred to above is similar to previous reports of cats model after stereotactic destruction of the supraopticohypophyseal tract. We speculate that our case may have been associated with neurohypophyseal dysfunction caused by supraopticohypophyseal tract damage.     

Hashimoto encephalopathy: a case study

The impact of thyroid hormones upon the proper function of central nervous system has been known for many years. The neurological symptoms and psychiatric disturbances may occur both in case of hypo- as well as hyperthyreosis. The encephalopathy Hashimoto (EH) described in this paper is a rare illness which occurs in case of patients suffering from the autoimmunological thyroid disease and increased level of antibodies in serum without any connections to the thyroid function. It is characterised by a variety of neurological symptoms and psychotic disturbances, acute state, high re-occurrence and good reaction to glicocorticosteroid treatment. Although we face encephalopathy Hashimoto extremely rarely in the clinical practice one should remember about it during the diagnostic process because when it is a long lasting untreated illness it may lead to the irreversible changes in the central nervous system.     

Korsakoff's Syndrome Associated with Adrenal Virilism

Korsakoff''s syndrome of obscure etiology was observed in a 34-year-old single woman with an 11-year history of hirsutism and mood swings, and previous hospitalizations for mania three years ago and depression 11 years ago.Recently the virilism had intensified with increased muscularity and coarsening of facial features. The 24-hour urinary 17-ketosteroids ranged between 14.4 mg. and 21.5 mg. and were suppressed by dexamethasone. The 17-hydroxycorticosteroid excretion was normal. These and other findings suggested a diagnosis of adrenal virilism due to adrenocortical hyperplasia. In the absence of other discernible causes it appeared that the adrenal pathology was responsible for the Korsakoff''s syndrome. Both conditions responded well to glucocorticoid therapy although low doses were necessary to avoid mania.It is speculated that the encephalopathy was due to an associated adrenal insufficiency. Although hypoadrenalism is accepted as a complication of only the infant form of adrenal virilism, it is noteworthy that this patient had pathological pigmentation of her skin.     

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson’s disease

Parkinson’s disease is the second most common neurodegenerative disease after Alzheimer’s disease and is manifested as a movement disorder. A positive family history is the second most important risk factor for developing the illness, after age. Both autosomal dominant and recessive forms of the illness have been described. Recently deletions in a novel gene, parkin, have been associated with the autosomal recessive form of the illness in Japanese families. In this study, we demonstrate that deletions of exons 5, 6 and 7 of the parkin gene are present in two affected individuals of a Greek pedigree with early onset Parkinson’s disease. However, no deletions were identified in a different branch of the same pedigree with three affected individuals. These results suggest that deletions in the parkin gene will be found in other families besides those of Japanese origin and that there must be at least one additional locus responsible for early onset autosomal recessive Parkinson’s disease. Received: 9 June 1998 / Accepted: 10 August 1998     

Culture and Disability Behavior

A substantial amount of literature suggests that illness behavior in the United States is a product of a patient''s core culture; equally credible findings do not support this contention. Most students and graduates in the health care professions believe that illness and disability behavior are affected by a patient''s culture, but they are hard put to find convincing examples of that relationship. In experience with medical students studying the social and cultural bases of illness behavior, with patients who are disabled and with persons who claim disability in the absence of physical disease or disabling psychopathology, I observed no deviant disability behavior that was typical for the members of any cultural group, and no behavior was displayed by the members of one cultural group that was not seen in members of other cultural groups. No cultural stereotypes were upheld. I did find evidence that disability behavior is influenced by personality factors, social situations and the gains derived from the disability status. Evolving concepts of “entitlement,” which are closely related to socioeconomic status, also have a significant influence. The impact of feedback from others in a person''s many social and medical subcultures is a more crucial determinant of illness and disability behavior, except in those for whom illness and disability behavior is determined by the limitations imposed by the disease or by a personality structure resistant to cultural expectations and social feedback.     

Is a compromised interferon response an etiologic factor in Reye's syndrome?

Young mice injected with sublethal doses of Toximul MP8, a typical commercial polyoxyethylene ether-based emulsifier, died more frequently when infected with encephalomyocarditis virus than did control mice. Lymphocytes taken from emulsifier-injected mice responded poorly to interferon induction, unlike lymphocytes from control animals. Interferon protected control mice against viral encephalomyocarditis, but such protection was not equally demonstrable in emulsifier-injected mice. These data suggest that the enhanced lethality of encephalomyocarditis virus in emulsifier-injected mice is associated with and perhaps caused by a compromised interferon response in these animals. Since these emulsifiers are commonly found in the environment in areas where forests are sprayed with pesticides, a group of children suffering from Reye''s syndrome who lived in such areas was investigated. Blood samples were obtained from five children with influenza B-associated Reye''s syndrome during their acute illness and during convalescence. Lymphocytes obtained from these samples and from peripheral blood samples from healthy children (controls) were induced to synthesize interferon by exposure to Newcastle disease virus. The lymphocytes from the convalescent patients and from the controls responded well to induction. However, the lymphocytes obtained from patients and from the controls responded well to induction. However, the lymphocytes obtained from patients during the acute phase of Reye''s syndrome responded very poorly and produced significantly less interferon.     

Wernicke's encephalopathy after vertical banded gastroplasty for morbid obesity.

Thiamine deficiency is known to lead to certain neurological sequelae including Wernicke- Korsakoff encephalopathy. Signs attributable to this condition include ataxia, ophthalmoplegia, nystagmus, and mental confusion. Recognised predisposing conditions include alcoholism gastric carcinoma, pyloric obstruction, hyperemesis gravidarum, and prolonged intravenous feeding. We have recently encountered two cases of Wernicke''s encephalopathy after vertical banded gastroplasty for morbid obesity . Other neurological sequelae are recognised after vertical banded gastroplasty, including Guillain-Barre syndrome, psychosis, and pseudoathetosis, but the causes are multifactorial.     

Neurologic effects of alcoholism.

Alcoholism, a worldwide disorder, is the cause of a variety of neurologic disorders. In this article we discuss the cellular pathophysiology of ethanol addition and abuse as well as evidence supporting and refuting the role of inheritance in alcoholism. A genetic marker for alcoholism has not been identified, but neurophysiologic studies may be promising. Some neurologic disorders related to longterm alcoholism are due predominantly to inadequate nutrition (the thiamine deficiency that causes Wernicke''s encephalopathy), but others appear to involve the neurotoxicity of ethanol on brain (alcohol withdrawal syndrome and dementia) and peripheral nerves (alcoholic neuropathy and myopathy).     

Caring for the Alzheimer's Patient

Alzheimer's Disease is a devastating, age-related, irreversible clinical syndrome characterized by a wide spectrum of progressive impairments in cognitive, behavioral and functional abilities. Since no effective therapy exists to cure or arrest the disease progression, treatment efforts are directed at providing relief of the physical, emotional and psychosocial discomforts associated with the advancing illness. Treatment goals focus on promoting quality of life for both patient and family with particular emphasis on role adjustments, comfort and safety. The complexity of changing illness manifestations necessitates professional multidisciplinary collaboration throughout the course of the illness. Continuity of care in the transition from home to institution is of great benefit to the patient, the family and the professional staff. The philosophy of caring and examples of intervention strategies to deal with the distressing symptoms in both the patient and the family are discussed.     

The cell biology of Chikungunya virus infection

Chikungunya virus (CHIKV) infection causes a disease which appears to affect multiple cell types and tissues. The acute phase is manifested by a non-fatal febrile illness, polyarthralgia and maculopapular rashes in adults, but with recurrent arthralgia that may linger for months during convalescence. The issue of cellular and tissue tropism of CHIKV has elicited interest primarily because of this lingering incapacitating chronic joint pain, as well as clear encephalopathy in severe cases among neonates during the re-emergence of the virus in recent epidemics. The principle cell types productively infected by CHIKV are skin fibroblasts, epithelial cells and lymphoid tissues. There is controversy as to whether CHIKV productively infects haematopoietic cells and neurones/glia. CHIKV infection triggers rapid and robust innate immune responses which quickly clears the acute phase infection. However, significant acute as well as chronic infection of less obvious cell types, such as monocytes, neurones/glia or even CNS neural progenitors may conceivably occur. There is therefore a need to ascertain the full range potential of CHIKV tropism, fully understand the cellular responses triggered during the acute the convalescent phases, and explore possible cell types that might be the source of chronic problems associated with CHIKV infection.     

Sj?rgren's syndrome treated with bromhexine: a randomised clinical study.

Existing treatment for Sjögren''s syndrome is unsatisfactory, and uncontrolled observations have suggested that bromhexine may be effective. Twenty-nine patients with Sjögren''s syndrome were therefore assigned to two randomised double-blind crossover trials with bromhexine and placebo, each comprising two two-week periods. In the first trial bromhexine 24 mg/day was given by mouth; in the second the dose was increased to 48 mg/day. After each treatment period the Schirmer test response, break-up time, Bijsterveld score, and the time taken for the patient to eat a dry biscuit were recorded, as well as the patient''s estimate of moistness in the eyes and mouth. In the second (higher-dose) trial values on the Schirmer test were significantly higher after bromhexine than after placebo and the break-up time was also increased after bromhexine, which suggested that the drug has a dose-dependent effect on lacrimal gland secretion in Sjögren''s syndrome. It had no effect on salivary gland function. Bromhexine is therefore valuable in the treatment of Sjögren''s syndrome.