Articular manifestations of adult Still's disease

Adult onset Still's disease is a rare systemic disorder of unknown etiology occuring in young adults. The diagnosis is difficult and based upon Yamaguchi's criteria after exclusion of infectious diseases, hemotologic process or autoimmune diseases. Clinical manifestations are various. Functional prognosis depends essentially on articular involvement. We report a retrospective and multicenter study of 26 cases of adult still's disease collected during 10 years. Arthralgia are constant and arthritis are observed in third of the cases. Radiologic joint alterations are found in five cases. A literature review was done with emphasis on clinical and radiological characteristics of articular manifestations.     

Kennedy disease in a patient with progressive speech disorder

Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.     

Esophago-bronchial fistulas in adult

Esophago-bronchial fistulas in adult are rare and for the most part are due to a malignant tumor. The authors present two cases of benign Esophago-bronchial fistula which were discovered accidentally by esophagography. One case was considered to be congenital. Esophagography is the most useful for diagnosis of this disease.     

Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease

Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. Aims and Methods: Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. Results: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present. Conclusions: Hungarian patients with Pompe's disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients.     

Estimation of the proportion of genetic cases in late-onset diseases: An application to alzheimer's disease

In diseases with a complex etiology including a genetic component, an important issue is to determine the proportion of cases really having inherited the disease. This is not easy in late-onset diseases where censoring might obscure the transmission pattern of the disease and give an apparently non-genetic distribution of the cases. We present a model that allows the estimation of the proportion of genetic cases in late-onset diseases. This model takes censoring into account by explicit modelling of the time dependency of the onset of the disease. The model is illustrated with an example based on an epidemiological survey in Alzheimer's disease and with simulated data.     

Anorexia nervosa and celiac disease: two case reports

OBJECTIVE: Anorexia nervosa (AN) has been reported to be associated with several chronic medical illnesses. In this study, we report two cases of women suffering from AN and celiac disease. The former received the diagnosis of celiac disease before the onset of the eating disorder. For the latter, the diagnosis of celiac disease followed that of AN. Authors discuss the complex relationships between celiac disease and AN. They suggest that in the first case the dietary restriction could act as a trigger for the eating disorder, whereas in the second case, the onset of celiac disease could have exacerbated the clinical symptoms of AN.     

Adult-onset metabolic diseases

Inborn errors of metabolism (IEM) can have their onset in adolescence or in adulthood. Although it is difficult to contribute exact data on prevalence -because there are few studies in this respect, and IEM are regarded as infrequent- their detection is important due to the possibilities for therapy and family genetic counselling. The main symptoms of IEM in the adult are neurological, followed by hepatic. Two basic modes of onset can be established. One is acute, normally taking the form of consciousness alteration, lethargy, coma of unknown etiology in a previously healthy patient (urea cycle deficits, homocysteine remethylation disorders and porphyries are the most frequent causes). The other is an insidious, often progressive, chronic symptomathology that can involve complex clinical features, and more rarely a symptom that is isolated in a persistent way (Wilson's disease, mitochondrial diseases, lysosomal storage disorders, Refsum's disease and glycogenosis are some examples of this group). It is especially important to determine the forms of acute onset as these can present situations of extreme emergency where appropriate conduct can prevent the death of the patient. In this case, simple laboratory examinations, such as determination of ammonia, homocysteine, lactate, acylcarnitines, amino acids, organic and porfirines, can guide the diagnosis and enable the start of intensive treatment. This article provides a practical approach that deals with the general characteristics and the clinical keys for suspecting the most usual IEMs in the adult.     

Legionnaires' disease outbreak,Fairfield 1992: public health aspects

Abstract: An investigation of an outbreak of Legionnaires' disease in 1992 in Fairfield, a municipality of Sydney, was carried out to determine the source of the outbreak. Cases of Legionnaires' disease with onset of symptoms between 11 and 20 April 1992 were included. Definite cases were individuals with a history consistent with Legionnaires' disease, confirmed by direct fluorescent antibody testing plus serology or culture. There were two control groups: patients admitted to the same hospital as the cases, matched for age and sex, and patients admitted to hospital with a presumptive diagnosis of Legionnaires' disease, in whom the diagnosis was subsequently excluded. There were 26 definite cases with onset of symptoms between 11 and 20 April 1992. Six (23 per cent) died. Twenty-two cases (85 per cent) reported visiting the Fairfield business district during the ten days prior to the onset of symptoms. They were 20 times more likely to have visited Fairfield than were matched controls. Matching of Legionella pneumophila serogroup 1 from environmental and clinical samples was achieved by cytogenetic fingerprinting. Fourteen cases were linked to a single environmental sample. The epidemiological findings were consistent with a point source of Legionella in the Fairfield business district. It is most likely that the exposure occurred on 10 April 1992.     

伴有血小板减少的川崎病临床特点总结

目的:了解伴有血小板减少的川崎病的特点。方法:回顾性分析近5年诊治的4例伴有血小板减少的川崎病患者的临床资料。结果:患儿发病后5～8天出现血小板下降,且下降的数值不固定,平均血小板数值为47.5×109/L,发病后9～12天血小板恢复正常;发生冠状动脉病变的几率为50%,病情多较重,病变累及多个脏器,误诊率及延误诊治的几率高。结论:伴有血小板减少的川崎病发生多系统并发症的几率高,应给予足够的重视;对于病程早期即出现血小板减少、全身多脏器损伤的病例,要考虑重型川崎病的可能,早期给予静脉点滴丙种球蛋白治疗,以减少并发症的发生。     

Tracing colorectal carcinoma in patients with inflammatory bowel disease

In patients with ulcerative colitis the risk of colorectal cancer is increased. Based on a number of studies, British and American guidelines support endoscopic surveillance in these patients. As the cancer risk in ulcerative colitis increases with disease duration, it is recommended that surveillance is started 8-20 years after diagnosis depending on the extent of disease. Although previous studies have shown that the observed cancer risk in colonic Crohn's disease is unrelated to duration of disease, similar surveillance of these patients is suggested. A substantial number of cases of carcinoma in patients with inflammatory bowel disease present before scheduled onset of surveillance. Therefore, the optimal time of onset of surveillance is disputable. However, taking into account the relatively low risk of colorectal cancer in the early stages of inflammatory bowel disease, it will be hard to achieve an acceptable risk-benefit ratio of extending surveillance by starting surveillance colonoscopies at a younger age.     

Surveillance of invasive meningococcal disease in Queensland, 2002.

During 2002, 124 cases of invasive meningococcal disease were notified in Queensland. This was similar to the previous year (n = 128). Four (3.2%) of the cases died. Trends by age and serogroup were generally similar to previous years and were consistent with the overall patterns of this disease in Australia. However, an apparent increase in serogroup C, which infected 41 per cent of cases, needs continued monitoring. This report highlights the need for continued surveillance of morbidity and mortality patterns and management of this disease. Ongoing surveillance will monitor the impact of the National Meningococcal C Vaccination Programme, commenced in early 2003. This report also highlights the need for ongoing community education to ensure people seek medical attention early after onset of the illness. This report shows that when general practitioners considered meningococcal disease as a diagnosis, their patients were admitted to hospital sooner than patients in whom this diagnosis was not initially considered. Acknowledging that early disease may present diagnostic difficulties, further awareness raising amongst general practitioners is required to promote early recognition and referral.     

Adult-onset Still disease. 11 cases

Still's Disease of the adult is a systemic disease that the cause is unknown. If the pediatric forms are frequent, the affection of the adult is rare and its diagnosis is difficult. The purpose of this study is to analyse the features of the clinical evolution of adult Still's disease and to compare our results with the literature. It is a retrospective study about 21 years that permitted to collect 11 cases according the criteria of Yamaguchi. It is a matter of 6 men and 5 women that the mean age is 31 years old (age range: 16 to 48 years old). The fever was constant, the skin rash was noticed in 8 patients (72.7%); a polyarthritis was noticed in all the patients, chronic in 10 cases (90.9%) which 2 erosive forms. Adenopathies were present in 5 patients, a splenomegaly and a hepatomegaly were noticed respectively in 4 and 2 cases. Inflammatory syndrome with hyperleukocytosis was constant, and a hepatic cytolysis was noticed in 80%. The total ferritinemia titrated in 8 patients was constantly high. The hemocultures realized in all the patients were sterile and the complete immunologic examination was negative. The strong dose of corticoid was prescribed with success in all the patients. The immediate evolution was favourable in 10 patients. We deplore one death after a state of deep denutrition. Still's disease of the adult is rare, its diagnosis is difficult, sensitive to corticotherapy and its clinical evolution in our country is comparable to the literature.     

Early onset type 2 diabetes in Jamaica and in Mexico. Opportunities derived from an interethnic study

Populations with Amerindian or African heritages are the one with the highest prevalence of diabetes worldwide. A large percentage of these individuals survived famine. However, the survival effect has become detrimental to their descendents living in an environment of caloric surplus. In countries, like Mexico and Jamaica, in which diabetes is highly prevalent, the onset of the disease happens at earlier ages. Our objective is to summarize diabetes data from Mexico and Jamaica and to discuss the opportunities that can result from an interethnic study. On one hand, the prevalence of diabetes in Jamaica is 17.9% in the 15+ age group. Jamaican researchers have built a cohort of families with early onset type 2 diabetes. In this population, this form of the disease is unrelated to MODY genes. On the other hand, the prevalence of diabetes in adult Mexicans is 14.4%. The group in which the greater percentual changes have occurred is the adults who are below the age of 40. More than two thirds of the early onset cases studied have a body mass index that is >25 kg/m2 and the clinical characteristics of metabolic syndrome. A minority of them has mutations in the MODY genes. The joint study of Mexican and Jamaican cohorts of early onset type 2 diabetes cases will be useful to identify new genetic and environmental players in the pathogenesis of this entity.     

Central nervous system decompression sickness: latency of 1070 human cases

Many aspects of central nervous system (CNS) decompression sickness (DCS) are poorly understood, including the temporal pattern of its presentation and the pathogenic mechanisms involved in the development of the disease. Using case histories and clinical series published in the literature and retrieved from treatment center records, this study is an attempt to define the interval between surfacing from a hyperbaric exposure and the onset of symptoms of CNS DCS. The results of 1070 cases of human CNS DCS were included in the study. The results show that the disease generally occurs rapidly: over 50% became symptomatic within 10 min of returning to 1 ATA, and in only 15% of cases was the onset of symptoms delayed for more than 1 h. Cerebral DCS had a more rapid onset than spinal cord disease: 50% of cerebral cases became apparent within about 3 min and a similar proportion of spinal cord cases within about 9 min from surfacing. The influence of these results on the diagnosis and treatment of dysbaric illness, on the safety of certain diving practices, and on possible pathogenic mechanisms is discussed.     

2014年淮安市人感染H7N9禽流感病例流行病学调查

摘要:目的　分析淮安市2014年4例人感染H7N9禽流感病例流行病学特征,为合理防治提供流行病学依据。方法　对确诊病例进行流行病学调查,密切接触者开展医学观察,使用RT-PCR法对标本进行检测。结果　4例病例平均年龄56.8岁,无地区或家庭聚集性,均已治愈;主要表现为流感样症状,CT检查有不同程度的肺部感染;发病到使用奥司他韦、发病到确诊、确诊到治愈的平均时间分别为5 d、11 d、15.5 d;3例病例发病前直接或间接接触过活禽,28例密切接触者未出现异常症状;活禽市场环境标本中检出H7N9禽流感病毒。结论　中老年人为人感染H7N9禽流感病例的易感人群,发病与禽类暴露关系密切,及时诊断和使用特效药可有效降低病死率。     

Epidemioclinical aspects of dermatomyositis in the region of Tunis

BACKGROUND: Dermatomyositis (DM) is a rare but serious disease. The aim was to evaluate the epidemiology, presenting clinical manifestations, therapeutic features and outcome of patients with DM. METHODS: From January 1986 to December 2003, we collected retrospectively cases of DM identified at the dermatology department of Habib Thameur hospital. We included only patients with definitive diagnosis of DM. RESULTS: We included 13 patients, mean aged 32.85 years: 9 adults and 4 children. We identified 9 cases of adult DM among them 2 cases of wiihich were of paraneoplastic DM and 4 cases of juvenile DM among them 1 case of amyopathic DM and 1 case of DM associated with connective tissue disease. The evolution of DM followed the course of the neoplasm for the 2 patients with paraneoplastic DM. All patients received corticotherapy initially. Patients were followed-up for an average of 3 years (2 months to 10 years). We found no serious repercussions on the growth of children with juvenile DM. CONCLUSION: DM is rare in Tunisia. In our study, its frequency is about 0.72 patients per year. Age of onset of DM is markedly smaller than the one reported in the relevant litterature. Our 2 cases of DM associated with cancer are considered like really paraneoplastic. Juvenile DM seems to have a relatively good prognosis.     

The intradermal test in the diagnosis of bilharziasis

The diagnosis of bilharziasis by detection of schistosome eggs in the urine or faeces of patients is often not possible in the later stages of the disease, when elimination of the eggs is rendered increasingly difficult. To overcome this difficulty, an immunological test has been developed, based on the cutaneous response to an injection of an antigen prepared from the cercariae, adult worms, eggs or miracidia of Schistosoma.In this paper, the author reviews the various procedures for obtaining the basic material for antigen preparation, describes briefly the method of preparation, outlines the nature and properties of the specific antigens, and discusses the skin-testing procedure, with special reference to the criteria for evaluating the results. He points out that the intradermal test may prove useful in epidemiological surveys as well as in the diagnosis of individual cases.     

Early onset of coronary artery disease after prenatal exposure to the Dutch famine

BACKGROUND: Limited evidence suggests that maternal undernutrition at the time of conception is associated with increased cardiovascular disease risk in adult offspring. OBJECTIVE: We investigated whether persons conceived during the Dutch famine of World War II had an early onset of coronary artery disease (CAD). DESIGN: We compared the age at onset and cumulative incidence of CAD between persons born as term singletons who were exposed to the 1944-1945 Dutch famine during late (n = 160), mid- (n = 138), or early (n = 87) gestation and 590 unexposed subjects at age 50 or 58 y. Age at CAD onset was defined as the age at which angina pectoris was identified (according to the Rose questionnaire), Q waves were observed on an electrocardiogram (Minnesota codes 1-1 or 1-2), or coronary revascularization was performed (by angioplasty or bypass surgery). RESULTS: Of the 83 CAD cases identified, persons conceived during the famine were 3 y younger than the unexposed persons at the time of CAD diagnosis (47 y compared with 50 y) and had a higher cumulative incidence of CAD [13%; hazard ratio (HR) adjusted for sex: 1.9; 95% CI: 1.0, 3.8] than did the unexposed persons. The HR changed little after adjustment for smoking (HR: 1.8), social class (HR: 2.0), or size at birth (HR: 2.0). CONCLUSIONS: We found an earlier onset of CAD among persons conceived during the famine, which suggests that maternal nutrition in early gestation may play a role in the onset of CAD. This finding agrees with evidence from animal experiments that identify periconceptional maternal diet as important in the offspring's adult health.     

Summary of the practice guideline 'Rheumatoid arthritis' (first revision) from the Dutch College of General Practitioners

The guideline covers the evaluation of patients with one or more painful joints without previous injury and focuses on the distinction between rheumatoid arthritis and other joint complaints. In the case of rheumatoid arthritis, the arthritis is based on aseptic synovitis and is nearly always associated with tenderness, warmth, swelling, and impaired function. Redness is not present in most cases. The diagnosis is primarily made on the basis of the case history and physical examination. Laboratory tests and X-ray are only of secondary importance. NSAIDs are recommended as the initial treatment for patients with rheumatoid arthritis or serious indications for this. If the arthritis does not settle within a period of 6 to 12 weeks after the onset of the complaints, the patient should be referred to a rheumatologist to start treatment with one or more disease-modifying antirheumatic drugs (DMARDs). DMARDs suppress the activity of the disease and can prevent joint damage. However, which combination of DMARDs gives the best results is still unclear.