Disseminated intravascular coagulation in a case of adult onset Still's disease

We report a 82-year-old woman with adult onset Still's disease (AOSD), who presented with high fever, skin rash, swollen axillary lymph nodes, accelerated erythrocyte sedimentation rate, leukocytosis, abnormal liver function tests, hypoalbuminemia, negative antinuclear antibody and rheumatoid factor, and lack of renal involvement. Disseminated intravascular coagulation (DIC) was also diagnosed on admission. An antipyretic relieved high fever and DIC soon improved. Three years later, AOSD relapsed accompanied by hypercoagulation and hyperfibrinolysis. The patient developed subdural hematoma and DIC due to a brain contusion. High titers of serum soluble adhesion molecules and soluble thrombomodulin were noted on the first episode of DIC. These findings indicated that endothelial cells were damaged in AOSD complicated by DIC.     

Acute hepatitis in a patient with adult onset Still disease]

The purpose of the paper is to demonstrate the usefulness of techniques of molecular similarity as an alternative method for estimation of both acute toxicity of chemicals and their partition coefficients. The technique of atom pairs was chosen. A series of aliphatic alcohols was treated. Acute toxicity was determined by the express laboratory method as the EC50 (inhibition of movement of the worms Tubifex tubifex). Partition coefficients were determined between oil and gas. The calculated results were sufficiently close to both experimental results and the estimates calculated by a technique of QSAR analysis.     

Phenotyping of peripheral blood lymphocytes in adult coeliac disease

OBJECTIVE: To evaluate nerve fiber density in vestibular specimens from women operated upon for vulvar vestibulitis. METHODS: Forty-seven women with vulvar vestibulitis syndrome underwent modified posterior vestibulectomies. Vestibular specimens were analyzed after being stained for S-100 neural tissue protein. Women were followed up for 2 years. RESULTS: In specimens from 44 of 47 patients, the densities and numbers of nerve fibers per square unit in the preparations were greater than those in specimens from six control women. In the patients, a statistically significant linear correlation was found between inflammation and nerve bundle density in the preparations (Spearman rank correlation coefficient rs=.41; P=.005). There were no signs of infectious etiology in any preparation. No or slight postoperative dyspareunia was reported by 38 of 42 women after 6 months, 36 of 39 after 12 months, and 26 of 28 after 24 months. CONCLUSION: Vestibular neural hyperplasia may provide a morphologic explanation of the pain in vulvar vestibulitis syndrome.     

Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the presenilin-1 gene

The tetraruthenated porphyrin, mu-[meso-5,10,15,20-tetra(pyridyl)porphyrin]tetrakis[bis-(bipyridine) chloride ruthenium(II)] (TRP) is a supramolecular cationic species. The aim of the present investigation was to evaluate the photodynamic properties of TRP and Zn-TRP to damage DNA with emphasis on the mechanistic aspects. The ability for tetraruthenated porphyrin derivatives to induce photosensitization reactions has been determined using 2'-deoxyguanosine as a DNA model compound. The main photooxidation products of the targeted nucleoside were identified and classified according to their mechanisms of formation, involving either a radical pathway (type I) or a singlet oxygen-mediated mechanism (type II). Quantification of the different oxidation products provides a means to evaluate the relative contribution of type I and type II pathways associated with the oxidative photosensitization of 2'-deoxyguanosine by tetraruthenated porphyrin derivatives. Results indicate that 1O2 plays a major role in the mechanism of photooxidation mediated by these porphyrin derivatives. In addition an increase of the photosensitizing effect in the presence of zinc is observed. For each sensitizer, the ratio between type II and type I photoproducts has been calculated and compared to that of other known dyes such as methylene blue and riboflavin.     

Progressive familial leukodystrophy of late onset

We report a family in which three siblings developed dementia between the ages of 40 and 70 years. Two of the siblings developed symptoms of depression, abnormal behavior, and an inability to function, progressing to severe dementia. The third sibling had a severe dementia, the clinical details of which are not available. In the two deceased siblings neuropathologic examinations demonstrated severe demyelination, axon loss, and gliosis in cerebral white matter. Cerebellar and brainstem white matter were unaffected. Cerebral gray matter was negligibly affected. The disorder, histopathologically classified as a pigmented orthochromatic leukodystrophy, is extremely rare. Its etiology is unknown, but the pathology and familial occurrence imply that it represents a genetic defect in a function localized in the cerebral white matter.     

Progressive osseous heteroplasia. Report of a family

OBJECTIVES: The purposes of this study were to investigate the use of computed tomography (CT) imaging in patients with suspected acute appendicitis and to evaluate the impact of CT on negative appendectomy and perforation rates. In patients clinically diagnosed of acute appendicitis the reported overall negative appendectomy rate is about 15-20%; 10% in men and 25-45% in women of childbearing age. This is associated with a perforation rate of 21-23%. METHODS: This is a retrospective analysis of 146 consecutive patients presenting with clinical symptoms suspicious of appendicitis over a 2-yr period in whom CT examinations were performed before therapy was instituted. The overall negative appendectomy and perforation rates were calculated for the entire group, as well as for the 54 women aged 15-50 yr in the childbearing cohort. RESULTS: The negative appendectomy rate was 4% in 122 patients operated on and the perforation rate was 22%. Among 36 women 15-50 yr of age operated on, the negative appendectomy rate was 8.3% and the perforation rate was 19%. Surgery was avoided in 24 patients, 18 of whom were women of childbearing age. CONCLUSIONS: The judicious use of CT imaging in patients with equivocal clinical presentation suspected of having appendicitis led to a significant improvement in the preoperative diagnosis. It resulted in a substantial decrease in the negative appendectomy rate compared to previously published reports, without incurring an increase in the perforation rate.     

Prevalence and clinical picture of adult gluten-induced enteropathy in a Norwegian population

Peroral jejunal biopsies were performed in 63 adult patients from a population of 40,000. Twenty-two patients had definite pathologic biopsy findings; 20 of these had gluten-induced enteropathy. With the 15 previously known patients in the region, this makes a minimum prevalence of 1 per 1,143. Subtotal villous atrophy was found in 8 patients, whereas partial villous atrophy was found in 12 patients. The clinical picture varied considerably, borborygmia, diarrhoea, abdominal pain, and psychiatric symptoms being the most commonly encountered symptoms. Steatorrhoea was found in only two patients with subtotal villous atrophy. In all the remaining patients, including six with subtotal villous atrophy, the faecal fat excretion was normal. A low whole blood folic acid concentration was the most consistent laboratory finding, although some patients had values slightly above the lower normal limit. Anaemia was not pronounced. Iron deficiency, as measured by the erythrocyte protoporphyrin IX concentration, was not common. A high degree of clinical awareness and broad indications for jejunal biopsy-taking is recommended.     

Fatal infectious complications in 2 patients with adult onset Still disease

Bone mass is the lifelong result of a balance between bone formation and bone resorption as shown in most metabolic bone diseases including involutional osteoporosis. To date, bone turnover has been precisely assessed by bone histomorphometry made by bone biopsy and also calcium kinetics and balance studies. However, bone histomorphometry is an invasive procedure requiring specialized laboratory for processing and evaluation, and calcium kinetics and balance studies require administration of radioisotopes and long periods of observation. Therefore, these procedures are not suitable for clinical tests of evaluation of bone turnover. Recently several biochemical parameters for bone turnover have been developed and also a number of noninvasive procedures such as single and dual photon absorptiometry, dual energy x-ray absorptiometry, computed tomography and ultrasound velocity, have been developed to quantitate bone mass more sensitively. In this symposium "Bone turnover and clinical tests" five symposists talked and discussed about some biochemical parameters for bone turnover and noninvasive procedures for measurement of bone mass.     

An autopsy case of adult onset glycogen storage disease type Ia

A 3-week tour of the Far East was coordinated by Dr. Ronald DeWald, senior travelling fellow appointed by the Scoliosis Research Society. Three junior fellows appointed by the Education Committee of the Scoliosis Research Society accompanied him. The purpose of this fellowship was to develop a comaraderie and exchange ideas, thoughts, and experiences in the field of spinal deformity.     

Clinical characteristics, treatment, and outcome of adult onset Still's disease in southern Chinese

OBJECTIVE: To study the clinical characteristics, treatment outcome, and complications of patients with adult onset Still's disease (AOSD) in our local Chinese population. METHODS: Patients with AOSD were identified among others who attended our rheumatology clinics from 1967 to 1997 and were followed. Their clinical and laboratory features at presentation, treatment, and outcome were recorded and compared with other reported series. RESULTS: Sixteen patients with AOSD were identified. Eleven (69%) were female. Nine (56%) had onset of the disease between 16 and 35 years of age. The commonest presenting features were fever (100%), arthritis (94%), rash (85%), weight loss (69%), and sore throat (63%). Fifteen patients presented with pyrexia of unknown origin and the median duration of fever before the establishment of the diagnosis was 6 weeks (range 4-75). The acute phase response was marked in all patients with gross elevation of erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and complement levels. Hyperferritinemia (> 5 times normal) was present in 90% of cases. Most patients (81%) required corticosteroid therapy and 85% of those steroid treated patients received additional disease modifying agents. The mean duration of followup of our patients was 93.3 months (range 8-362). Five (33%) had monocyclic systemic disease, 6 (40%) had polycyclic systemic disease, and 4 (27%) had frequent relapses that progressed to a chronic arthropathy. CONCLUSION: AOSD in southern Chinese tends to run a benign course, with few patients evolving into chronic inflammatory arthropathy. A significantly lower incidence of serositis, lung involvement, and enlargement of the reticuloendothelial organs was observed at presentation compared with patients of different ethnic origins.     

Phytosterolaemia in a Norwegian family: diagnosis and characterization of the first Scandinavian case

Phytosterolaemia (sitosterolaemia) is a very rare inherited sterol storage disease characterized by tendon and tuberous xanthomas and by a predisposition to atherosclerosis. We here describe the first Scandinavian case. The 14-year-old female patient was found to have markedly elevated circulating levels of plant sterols (sitosterol, sitostanol, campesterol, stigmasterol), and the levels of these sterols were 20-50 times higher than in her healthy sister and heterozygous parents. In addition to the usual serum plant sterols we found a new major sterol in the patient tentatively identified as episterol or fecosterol (24-methyliden-cholest-7 (or 8)-en-3 beta-ol). A newly developed method based on the use of deuterium labelled cholesterol and plant sterols was used to measure sterol absorption in the patient and her relatives. Absorption of sitosterol averaged 20% in the patient and ranged from 4 to 8% in the relatives. Absorption of campesterol averaged 31% in the patient and ranged from 15 to 18% in her relatives. Absorption of cholesterol averaged 63% in the patient and ranged from 35 to 45% in the relatives. Cholesterol synthesis appeared to be reduced in the patient and was 46-52% of that of her relatives.     

Progressive asymmetrical peripheral neuropathy of both legs in a 64-year-old man

Between August 1983 and April 1996, 53 testicular germ cell tumors in 52 patients were treated at Toranomon Hospital. The average age of the patients was 36.1 years (range 21-89). The affected side was the right side in 24, left in 27 and bilateral in 1 case. Of the 53 tumors 34 (64.2%) were seminoma and 19 (35.8%) were non-seminomatous germ cell tumor (NSGCT). High ligation orchiectomy was performed in all cases. Of 29 stage I seminomas, post-operative adjuvant radiotherapy was performed in 6 cases prior to 1991. None of these tumors recurred. Two cases of relapses (8.7%) were found among the 23 stage I seminomas followed by surveillance. Of 8 stage I NSGCTs followed by surveillance, 4 (50.0%) tumors which contained embryonal carcinoma element and vascular invasion relapsed within 12 months after orchiectomy. A case of stage IIA seminoma was treated successfully by irradiation. Seven cases of stage II (3 seminomas and 4 NSGCTs) and 8 cases of stage III (1 seminoma and 7 NSGCTs) as well as cases of 6 stage I patients who developed relapse during surveillance were treated by VAB-6 chemotherapy. Of these 21 cases, 11 (52.4%) achieved complete response (CR) and 10 (47.6%) partial response (PR). Salvage surgery and/or additional chemotherapy was successful to bring the 10 PR cases into CR condition. One NSGCT patient, however, died of electrolyte imbalance during the maintenance chemotherapy for disease progression after achieving CR. All 34 patients with seminomas and 18 of the 19 with NSGCTs were alive without evidence of disease after a mean follow up period of 61.1 months (range 4-150 months).     

Satoyoshi's syndrome in an adult: a review of the literature of adult onset cases

Satoyoshi syndrome consists of painful intermittent muscle spasms, alopecia and diarrhea. The age of onset is commonly less than 20 years of age. Adult onset of this syndrome is rare. We report a 65-year-old Japanese woman with Satoyoshi's syndrome of adult onset. Satoyoshi's syndrome of adult onset shows no skeletal abnormalities, in comparison with the classical pediatric cases. The clinical features in our patient revealed the benign and long-term course of muscle spasm and alopecia. This progression differed markedly from the other patients of adult onset. Thus, the severity of Satoyoshi's syndrome is variable in adult onset cases, and this diagnosis should be considered in adults with various and unexplained muscle spasms.     

Inappropriate secretion of antidiuretic hormone (SIADH) in a patient with pleurisy related to adult onset Still''s disease

OBJECTIVE: To assess the prevalence of self-treatment in men with new episode non gonococcal urethritis (NGU). METHOD: Three hundred consecutive men with new episode NGU attending an open access genitourinary medicine clinic were interviewed using a semi-structured questionnaire. Details of treatment used before attending the clinic were obtained. RESULTS: Thirty (10%) men had used treatment, for an average of 7 days, prior to the clinic attendance. Agents used included antibiotics (11), savion or iodine (4), vitamin tablets (4), cisapride (2), local anaesthetic gel (2), antiseptic cream (2), cod liver oil (1), ferrous sulphate (1), naproxen (1), clotrimazole cream (1) and a poultice (1). Over 70% of the men reporting antibiotic use had self-medicated and in one case a fixed drug eruption had ensued. CONCLUSION: A significant number of men with NGU self-treat. In addition to the adverse effects of such treatment and the potential effect on culture tests, clinic attendance may be postponed, the use of appropriate therapy delayed, and sexual contacts will remain at risk. Early attendance for treatment and contact tracing is essential and should be actively promoted.     

Influence of the type of family predisposition on the age of ulcer disease onset

Anthrax toxin consists of three separate proteins, protective antigen (PA), lethal factor (LF), and edema factor (EF). PA binds to the receptor on mammalian cells and facilitates translocation of EF or LF into the cytosol. PA is the primary component of several anthrax vaccines. In this study we expressed and purified PA from Escherichia coli. The purification of PA from E. coli was possible after transporting the protein into the periplasmic space using the outer membrane protein A signal sequence. The purification involved sequential chromatography through hydroxyapatite, DEAE Sepharose CL-4B, followed by Sephadex G-100. The typical yield of purified PA from this procedure was 500 microg/liter. PA expressed and purified from E. coli was similar to the PA purified from Bacillus anthracis in its ability to lyse a macrophage cell line (J774A.1). The present results suggest that a signal sequence is required for the efficient translocation of PA into E. coli periplasmic space.     

Nitric oxide as a peripheral and central mediator in temperature regulation

In animals including humans nitric oxide (NO) serves as a biological messenger both peripherally at neuroeffector junctions and in the central nervous system where it modulates neuronal activity. Evidence for the involvement of NO in homeostatic control is accumulating also for temperature regulation in homeotherms. In the periphery an auxiliary role in the vasomotor control of convective heat transfer to heat dissipating surfaces and modulation of thermoregulatory heat generation, especially in brown adipose tissue as the site of nonshivering thermogenesis, are discussed as NO actions. At the central level a thermolytic role of NO in thermoregulation as well as in fever is assumed, however, experimental data opposing this view suggest that topical specificity may be important. At the level of single neurons, the observed interrelationships between thermosensitivity and responsiveness to NO are still not consistent enough to reconcile these data with the effects of NO-donors and inhibitors of NO-synthase on temperature regulation.