Myocardial disease in inherited disease

To detect cardiac Fabry's disease, plasma alpha-galactosidase activity was measured in 230 male patients with left ventricular hypertrophy (LVH). Seven patients were diagnosed as having cardiac Fabry's disease. They did not have typical clinical manifestations of Fabry's disease. All seven had symmetric LVH. Endomyocardial biopsies revealed marked sarcoplasmic vacuolization in all five patients examined. Typical lysosomal inclusions with a concentric lamellar configuration were observed. Two novel mutations, A20P in exon 1 and M296I in exon 6, were detected in two patients, respectively. The remaining five had no mutations in the coding region for the alpha-galactosidase gene, and had marked decreases in the amount of alpha-galactosidase mRNA. Cardiac Fabry's disease should be considered as one of the cause of LVH.     

Celiac disease and autoimmune thyroid disease

Celiac disease (CD) or gluten sensitive enteropathy is relatively common in western populations with prevalence around 1%. With the recent availability of sensitive and specific serological testing, many patients who are either asymptomatic or have subtle symptoms can be shown to have CD. Patients with CD have modest increases in risks of malignancy and mortality compared to controls. The mortality among CD patients who comply poorly with a gluten-free diet is greater than in compliant patients. The pattern of presentation of CD has altered over the past three decades. Many cases are now detected in adulthood during investigation of problems as diverse as anemia, osteoporosis, autoimmune disorders, unexplained neurological syndromes, infertility and chronic hypertransaminasemia of uncertain cause. Among autoimmune disorders, increased prevalence of CD has been found in patients with autoimmune thyroid disease, type 1 diabetes mellitus, autoimmune liver diseases and inflammatory bowel disease. Prevalence of CD was noted to be 1% to 19% in patients with type 1 diabetes mellitus, 2% to 5% in autoimmune thyroid disorders and 3% to 7% in primary biliary cirrhosis in prospective studies. Conversely, there is also an increased prevalence of immune based disorders among patients with CD. The pathogenesis of co-existent autoimmune thyroid disease and CD is not known, but these conditions share similar HLA haplotypes and are associated with the gene encoding cytotoxic T-lymphocyte-associated antigen-4. Screening high risk patients for CD, such as those with autoimmune diseases, is a reasonable strategy given the increased prevalence. Treatment of CD with a gluten-free diet should reduce the recognized complications of this disease and provide benefits in both general health and perhaps life expectancy. It also improves glycemic control in patients with type 1 diabetes mellitus and enhances the absorption of medications for associated hypothyroidism and osteoporosis. It probably does not change the natural history of associated autoimmune disorders.     

Measuring disease activity in Crohn’s disease

In the last few years the management of Crohn??s disease (CD) has changed due to the introduction of new therapeutic agents that provide more alternative options in patients with severe diseases, introducing new concepts regarding treatment timing. At the moment, the absence of good predictors of disease outcome and a subclinical marker available to predict relapse during clinical remission are major problems in the management of CD. In recent decades, the evaluation of several variables has been proposed to address this issue, including disease behavior, clinical?Cendoscopic activity and intestinal damage. In particular, definition of mucosal restitution or healing after therapy has been proposed as a surrogate of efficacy and new goal of the therapy. Regarding this concept, several criticisms have been raised, such as the need to better define the role of mucosal healing in a transmural disease. In order to address this issue, new alternative techniques providing both extraluminal and luminal intestinal damage have been proposed, including ultrasonography, computed tomography and magnetic resonance imaging.     

Chronic obstructive lung disease and coronary heart disease

It has been established that coronary heart disease, as well as arterial hypertension, is one of the most frequent illnesses that accompany chronic obstructive lung diseases (COLD). Certain data suggest that COLD increase the risk of the development of cardiovascular pathology 2 to 3 times. The purpose of the study was to establish coronary heart disease (CHD) rate among patients with COLD, and to determine the peculiarities of CHD in this category of patients. The subjects were 116 patients with COLD (mean age 53.5 +/- 1.13 years). The authors also analyzed lethality in the Pulmonary division of the clinic, where 41 patients had died in 1998-2003. CHD was diagnosed in 31 (26.7%) patients. The results show that CHD rate in COLD patients older than 60 is 1.5 times higher than that in those younger than 60, and 2.3 times higher than that in those younger than 50. The patients with and without CHD demonstrate significant difference in the severity of COLD and obstructive syndrome. The leading cause of death in COLD patients was respiratory and circulatory failure; also noticed was high myocardial infarction rate among those patients. Autopsies revealed signs of coronary artery atherosclerosis in 7 out of 9 patients. The obtained data suggest that CHD development is a regular phenomenon in COLD patients, especially in those exposed to other CHD risk factors. The risk group consists of patients with severe COLD; their examination requires special attention paid to possible CHD symptoms and painless myocardial ischemia, for early diagnostics and beginning of antianginal therapy.     

运动神经元病及运动神经元病综合征

目的探讨运动神经元病综合征(MNDS)的病因、发病机制、诊断。方法回顾性分析90例运动神经元病(MND)及MNDS的临床特点和诊疗过程。结果MND38例(42.4%),对症及支持治疗,总有效率21.4%;MNDS52例(57.8%),病因为主治疗,总有效率61.5%。两者疗效差异显著(P<0.01)。结论明确MNDS的病因,对治疗及预后极为重要。     

Cat-scratch disease

Cat-scratch disease is a relatively common disorder that is the result of infection with a recently identified gram-negative bacillus. Although it is overwhelmingly a benign, self-limited illness requiring only supportive care, serious complications can occur and the disease may be life-threatening on occasion. Although randomized clinical trials of antibiotic therapy for CSD do not exist, CSD has demonstrated in vitro susceptibility to several antibiotics, and gentamicin has been reported beneficial in a few patients with systemic manifestations of the illness. Therefore, pending clinical trials, gentamicin may be worthy of consideration in CSD patients with serious manifestations of this illness. CSD is one of the most common causes of adenopathy and should be considered in all patients who present with unilateral or regional lymphadenopathy.     

Postresuscitation disease

The postresuscitation disease is a specific pathophysiologic state of vital organ systems early after ischemic anoxia. This report summarizes reviews of past research and makes suggestions for future research concerning revival of the cerebral cortex after clinical death, CNS stimulation vs. sedation, postischemic coma and pain, near-death experiences, and extracerebral derangements. The stages of resuscitation when the CNS should be stimulated and those when it is preferable to depress the activity of not fully recovered higher centers remain to be clarified. Future research in reanimatology should include the chemical nature of endotoxins in terminal states. Adult respiratory distress syndrome (ARDS, shock lung), a component of the postresuscitation disease, occurs frequently after cardiac arrest or in sepsis and cannot be fully prevented by artificial ventilation. Prevention of ARDS should also be studied.     

Huntington's disease

Huntington's disease is characterized by striatal degeneration, leading to progressive choreoathetoid movements, dementia and behavioral changes. It is inherited as an autosomal dominant illness with complete penetrance. New technology has localized the aberrant gene, and presymptomatic and even prenatal testing may eventually be available. Although no definitive treatment currently exists, judicious use of neuroleptics, appropriate referrals and a strong therapeutic alliance with the family may be helpful.     

Prostate disease

This article discusses prostate disease and outlines the role of the nurse in the assessment and treatment of patients with prostate symptoms.     

Castleman's disease

AIM: To describe original experience in management of Castleman's disease (CD) and review literature data. MATERIAL AND METHODS: Twelve cases of HIV-free CD in patients aged 18-51 years (mean age 36 years) are reported. RESULTS: CD was plasmocell, mixed and hyalinovascular in 6, 2 and 4 patients, respectively. Histological and immunophenotypical characteristics of CD are detailed. Three patients with plasmocell CD died of severe autoimmune anemia. All the patients with hyalinovascular KD variant were treated surgically (enlarged lymph nodes were removed) and achieved remission. CONCLUSION: The diagnosis of plasmocell CD is made after exclusion of infections, collagenoses, autoimmune diseases and lymphomas. Therapy of plasmocell variant of CD has not been developed yet.