Valvular disease associated with systemic illness

The connective tissue diseases are immune-mediated inflammatory diseases that manifest predominantly with symptoms and signs of musculoskeletal and mucocutaneous inflammation. They frequently affect the heart valves, pericardium, and myocardium. In patients with AKS, the aortic root and conduction system are also frequently involved. Echocardiographic series in these patients have demonstrated that valvular disease is highly prevalent and associated with substantial morbidity and mortality (Table 1). The prevalence rates of clinically detected valvular disease, however, are either unknown or low. This discrepancy is related to lack of awareness, overshadowing of the cardiovascular manifestations by the inflammatory symptoms and signs of the musculoskeletal system, lack of systematic application of the history and cardiovascular physical examination, and high sensitivity of echocardiography for detecting subclinical abnormalities. Several valvular abnormalities have been identified as unique to a specific disease. Libman-Sacks vegetations, valve nodules, and subaortic bump are characteristic of SLE, RA, and AKS (see Table 1). The valvular complications and respective therapy are similar to those of other causes of valvular disease; however, the associated morbidity and mortality of these complications in these patients are high. The worse prognosis of valvular disease in these patients is related to the chronicity and debilitating nature of their illness, their high prevalence of multisystem disease, and immunosuppression. These factors underscore the importance of early recognition, prevention of complications, and proper clinical or echocardiographic follow-up. The distinctive echocardiographic characteristics of the valve abnormalities associated with the connective tissue diseases may allow their differentiation from other common valvulopathies, such as infective endocarditis, rheumatic valvular disease, and degenerative valvular disease (Table 2). Despite the clinical and prognostic implications of valvular disease associated with the connective tissue diseases, incomplete data are available about pathogenesis, relation to clinical features of the primary disease, evolution, and effect of steroid or cytotoxic therapy. Echocardiography, especially TEE, has the potential to redefine the prevalence rates and to characterize better the valve abnormalities associated with these conditions. Finally, future large cross-sectional and longitudinal studies using clinical and echocardiographic data may help to define better the presence, evolution, and therapy of the valvular disease associated with the connective tissue diseases.     

Celiac disease associated with systemic lupus erythematosus

Celiac disease in children has been occasionally reported to be associated with various disorders such as arthritis, cutaneous vasculitis and diabetes mellitus. We report on a 12-year-old girl with celiac disease, diagnosed at 1 year of age, who developed systemic lupus erythematosus. This association has not yet been reported in children.     

Colonic atresia associated with Hirschsprung''s disease: it is not a diagnostic challenge

OBJECTIVES: Osteoporosis is a major cause of morbidity and cost. Patients sustaining one osteoporotic fracture are at increased risk of having another fracture. The objective of this study was to examine the use of "bone drugs" for the prevention of further osteoporotic fractures among patients who have had a "typical" osteoporotic fracture. METHODS: This study took a random sample of 300 women aged 50 and over who had sustained either a vertebral, hip or Colles fracture in 1995 from the General Practice Research Database (GPRD) and compared their use of bone drugs with 300 age and practice matched controls. RESULTS: Compared with age and practice matched control patients only vertebral fracture patients showed a statistically significant increase in the use of bone drugs in the year after fracture (39% and 2% for cases and controls respectively; 95% CI of difference 27% to 47%). Etidronate was the most commonly used compound. CONCLUSION: The majority of patients sustaining an osteoporotic fracture are not prescribed any pharmaceutical agents for the secondary prevention of fracture one year after a primary fracture.     

Squamous cell carcinoma of the skin associated with systemic sclerosis

BACKGROUND: The coexistence of sclerosis and cancer has been recognized with increasing frequency. However, squamous cell carcinoma of the skin associated with systemic sclerosis is relatively rare. OBJECTIVE: The mechanisms of malignancy in systemic sclerosis are discussed. METHODS: An 18-year-old girl with progressive systemic sclerosis is described. RESULTS: The patient had developed squamous cell carcinoma of the skin on the sclerosed skin of her left leg requiring amputation. The tumor recurred on the distal end of the stump. Local radiotherapy was unsuccessful. CONCLUSION: This report suggests that sclerosis of the skin may manifest a greater risk of developing skin cancers unrelated to chronic injury or scarring of the skin.     

Factors associated with psychotic symptoms in Alzheimer''s disease

BACKGROUND: The incidence of abdominal aortic aneurysm (AAA) has increased steadily during the past 30 years. METHODS: Trends in the incidence and surgical intervention for AAA in Western Australia were reviewed for the interval 1985-1994. A population-based health database was used to link morbidity and mortality records of all patients aged 55 years or more who died from rupture or were admitted and treated surgically for AAA. Three groups were separated for analysis: patients with a ruptured AAA, those admitted for elective repair and those admitted as an emergency with an acute (non-ruptured) aneurysm. RESULTS: There was a decline in the incidence of both emergency and elective procedures for AAA after 1992. While the mortality rate from ruptured AAA has also fallen since 1991, the overall case fatality rate for ruptured AAA has fallen by only 1.3 per cent (from 80.7 to 79.3 per cent). CONCLUSION: The decline in mortality rate and emergency procedures may result from a fall in the incidence of ruptured AAA, due to an increasing rate of elective surgery before 1992. The decline in elective procedures from 1992 may be due to a fall in the prevalence of AAA owing to high rates of elective surgery, or to a fall in the incidence of the disease itself.     

Value of direct and indirect diagnostic methods in systemic mycoses associated with AIDS

One hundred and seventeen patients suffering systemic mycosis and AIDS were studied during 5 years in the Mu?iz Hospital of Buenos Aires City. Seventy four of them presented cryptococcosis, 39 histoplasmosis and 4 both mycoses. The following specimens were studied for the diagnosis: skin and mucous membrane scrapings, bone marrow aspirations, bronchial secretions, biopsies of different organs, cerebral spinal fluid and blood cultures. Sera were also collected for serologic tests. A total of 203 samples from patients with histoplasmosis were studied, 46.3% of them showed H. capsulatum in microscopic examinations or in cultures, skin scraping was the most sensitive diagnostic method (94.7% of positive results), followed by biopsies (80%) and bone marrow cultures (42.1%). Specific antibodies were detected in 45.4% of the patients with histoplasmosis, using 2 different antigens and 3 types of serologic reactions (complement fixation test, immunodiffusion and counterimmunoelectrophoresis). A total of 413 samples from patients with cryptococcosis were examined, 69% of them confirmed the diagnosis. The mycologic study of CSF was the most sensitive method of study, since it registered positive results in 89.5%, followed by blood cultures (61.2%), skin scrapings (42.9%), and urine cultures (41.7%). Polysaccharyde antigens from C. neoformans in organic fluids were detected in almost all the cases. The aim of this study is to compare all the suitable diagnostic methods which can be used in systemic mycosis associated with AIDS in order to find the most rapid way of diagnosis.     

A paraneoplastic mixed bullous skin disease associated with anti-skin antibodies and a B-cell lymphoma

BACKGROUND: The full spectrum of bullous diseases associated with underlying cancers remains to be fully defined. OBSERVATION: We describe a patient with a mixed bullous disease exhibiting combined features of cicatricial pemphigoid and pemphigus and associated with a B-cell lymphoma producing an IgM paraprotein to intercellular antigens in human skin. The patient had the clinical features of cicatricial pemphigoid and the histologic and immunofluorescence abnormalities of both cicatricial pemphigoid and pemphigus. These included oral and cutaneous erosions; ocular scarring; subbasal and acantholytic intraepidermal bullae; and circulating and tissue-fixed basement membrane zone and intercellular antibodies. The antibodies were directed to a 140-kd antigen in dermal extracts of skin split with 1 mol/L of sodium chloride and to antigens with approximate molecular weights of 150, 180, 230, and 285 kd in the dermal extract. In contrast to paraneoplastic pemphigus, the intercellular antibodies did not react to mammalian bladder. The intercellular antibodies were of the IgM class and were associated with the paraprotein produced by the malignant B cells. CONCLUSIONS: We believe that this condition represents a novel bullous disease, which we refer to as paraneoplastic mixed bullous disease. This condition illustrates that distinct bullous diseases are associated with paraneoplastic syndromes and that at least one possible mechanism for such eruptions is the production of anti-skin antibodies by malignant B cells.     

Escherichia coli associated cellulitis in broilers: correlation with systemic infection and microscopic visceral lesions, and evaluation for skin trimming

In Alberta, cellulitis condemnations average 0.5% and are among the highest in Canada. Presently, all cellulitis-affected birds are condemned for fear of systemic infections and public health implications. In a slaughterhouse sample of 102 birds condemned with cellulitis, Escherichia coli was isolated from 83.3% of the lesions. All hearts were cultured and from 11.2% E. coli was recovered. Gross lesions of perihepatitis, infected oviducts, and arthritis were found in 11.2%, 6.7%, and 2.9% of the birds, respectively. Serotyping suggested that visceral infection occurs independent of cellulitis in at least half of the cases. There was no correlation between microscopic visceral lesions and positive bacterial cultures. Two E. coli isolates of serogroup 0157 produced no toxin and neither isolate produced CS31A, F107, or F1845 fimbriae. Cellulitis lesions ranged from 0.55 to 218.9 cm2. All lesions under 16 cm2 and 64% of lesions up to 48 cm2 were considered suitable for trimming.     

Wilson's disease in patients presenting with liver disease: a diagnostic challenge

BACKGROUND & AIMS: In patients with Wilson's disease presenting with liver involvement, the correct diagnosis is often missed or delayed. The aim of this study was to find an algorithm for diagnosis of this difficult patient group. METHODS: Clinical and laboratory findings of 55 patients with Wilson's disease were evaluated at diagnosis before treatment. Presenting symptom was chronic liver disease in 17 patients, fulminant hepatic failure in 5 patients, hemolysis in 3 patients, and neurological disease in 20 patients, and 10 patients were detected by family screening (siblings). Evaluation included neurological and ophthalmologic examination, routine laboratory tests, and parameters of copper metabolism including liver copper content in 43 liver biopsy specimens. RESULTS: In the whole group, serum ceruloplasmin level was <20 mg/dL in 73%, urinary copper excretion was increased in 88%, and liver copper content was elevated in 91% at diagnosis. Kayser-Fleischer rings were detected in 55%. In contrast to patients with neurological disease (90% Kayser-Fleischer rings, 85% low ceruloplasmin), only 65% of patients presenting with liver disease were diagnosed by these typical findings. Ceruloplasmin levels were lower in patients with Kayser-Fleischer rings or with neurological disturbances than in patients without these symptoms. CONCLUSIONS: The commonly used clinical and laboratory parameters are not sufficient to exclude the diagnosis of Wilson's disease in patients with liver disease of unknown origin.     

Two cases of systemic lupus erythematosus associated with fatty liver and Basedow's disease

We present two cases of systemic lupus erythematosus (SLE) associated with both Basedow's disease and fatty liver. The first case is a 46-year-old Japanese female who was admitted because of high fever and general fatigue. She had been diagnosed as having Basedow's disease and treated with thiamazole for over 4 years. Since thiamazole-induced lupus was unlikely because of high titer anti-nuclear antibody and anti-DNA antibody and low levels of complements, a diagnosis of SLE was made. The upper abdominal ultrasound study and the specimen obtained by liver biopsy performed before initiating steroid therapy demonstrated marked fatty liver. SLE itself is considered as an etiology of fatty liver in this case. The second case was a 25-year-old Japanese female with SLE. She had been treated with prednisolone for 13 years and was complicated with Basedow's disease 10 years later. Fatty liver was also demonstrated in this patient on ultrasonography, and was thought to be resulted from long-term steroid hormone administration.     

Sneddon''s syndrome: a vascular systemic disease with kidney involvement?

Exercise performance is associated with physical development. For sick children, there is a need for parameters reflecting exercise performance, which should be easy to measure and should take their nutritional state into account. The aim of this study was to investigate the relationship between maximum work-load (Wmax) and body weight (BW) as well as fat-free mass (FFM) in healthy children performing an incremental maximum exercise test on a bicycle ergometer, and to develop reference values for Wmax corrected for nutritional state. A random sample of 158 children (77 boys and 81 girls), aged 12-18 yrs, underwent an incremental maximum exercise test on a bicycle ergometer. BW and FFM were also measured. Correlation analysis showed a significant association (p < 0.001) between BW and Wmax (boys: r = 0.82; girls: r = 0.73), and between FFM and Wmax (boys: r = 0.89; girls: r = 0.79). Two-way analysis of variance showed a significant effect of gender on variance of Wmax/BW ratio as well as Wmax/FFM ratio. The influence of age was significant for Wmax/FFM (p = 0.003), but not for Wmax/BW. The maximum workload/body weight ratio and the maximum workload/fat-free mass ratio are useful parameters of work capacity in bicycle exercise testing in children. The reference values (mean, SD, median, and percentiles) for boys and girls aged 12-18 years can be used to predict workload corrected for body composition in healthy and sick children.     

Selected psychiatric symptoms associated with rate of cognitive decline in patients with Alzheimer''s disease

Endoscopy Sphincterotomy is an important therapeutic procedure in the treatment of some biliary and pancreatic disorders. In this paper, we report our experience over this subject. In our patients the main indication to perform this procedure was common bile duct stones; they were 83% of the total cases. In those cases, 67% were residual stones after cholecystectomy by laparotomy and laparoscopy. We performed sphincterotomy in 33% of patients with gallbladders in situ. In five patients (7.57%), we made the diagnosis of Oddi's sphincter dysfunction taken in account clinical, biochemical an radiological findings. No manometric measurements were done. We found some unusual cases, such as: choledococele and Sump syndrome. In five patients we had complications, 3 of them bled and the other two developed edematous pancreatitis. All these complications were solved with medical treatment.     

Urolithiasis associated with Crohn's disease: a case report

We report a case of urolithiasis caused by surgical treatment for Crohn's disease. A 28-year-old woman was referred to our department for further examination of renal stones from the medical department in September, 1995. She suffered from Crohn's disease and had a history of jejuno-ileal resection because of perforation of the ileum in 1988. Radiographs revealed multiple bilateral renal stones, and the urine oxalate concentration was elevated. She was treated with extracorporeal shock wave lithotripsy and the administration of sodium bicarbonate and citrate, but these treatments did not prevent recurrence and enlargement of stones. Renal function was gradually worsened and we performed transurethral lithotomy and percutaneous nephrolithotripsy. The stones were mainly composed of oxalate calcium monohydrate. A renal biopsy was performed at the operation, showing deposition of crystals in almost all renal tubules. Diet therapy (low oxalate and low fat) and the administration of sodium bicarbonate and citrate were performed strictly and recurrence was not recognized 10 months after complete removal of the stones.     

Valve strands are strongly associated with systemic embolization: a transesophageal echocardiographic study

OBJECTIVES: We attempted to determine the prevalence of strands on native and prosthetic valves, as detected by transesophageal echocardiography, and to assess the relative risk for systemic emboli associated with these strands. BACKGROUND: Fine threadlike strands, seen on native and prosthetic valves by transesophageal echocardiography, have been implicated in systemic embolization. METHODS: During a 2-year period, 1,559 patients underwent transesophageal echocardiography at our center. Of these, 41 patients had strands and no other identifiable source of systemic emboli. They were matched for age, gender, history of hypertension and history of smoking with a control group of 41 patients without strands who also had no identifiable source of emboli. The risk of embolization in the two groups was compared. RESULTS: Of 1,559 patients studied by transesophageal echocardiography, 86 (5.5%) had strands. Strands were far more common on mitral valves than on aortic valves. Of the patients with strands, 38% had had an event consistent with a systemic embolus, whereas 62% had not. Of 597 patients with an embolic event, 63 (10.6%) had strands, whereas only 23 (2.3%) of 962 patients without emboli had strands. In the case-control study, 33 (83%) of the 41 patients with strands without another source of embolism had emboli compared with only 12 (29%) of the 41 control patients without another source (odds ratio 10.0, 95% confidence interval 3.6 to 27.8, p = 0.00001). CONCLUSIONS: Valvular strands visualized by transesophageal echocardiography are associated with systemic embolization.     

Brief, prolonged and repeated stimuli applied to hyperalgesic skin areas: a psychophysical study

In this experimental study brief/prolonged and single/repeated, nociceptive stimuli (laser, thermode and electrical) were used to investigate sensory changes in capsaicin-induced primary and secondary hyperalgesia. The pain threshold to prolonged thermode stimulation was reduced in the primary area and remained constant in the secondary area. The pain thresholds to brief laser and electrical stimuli remained constant in the primary but reduced in the secondary area. The summation pain threshold to repeated (five stimuli delivered at 0.5, 1, 2 and 3 Hz) laser and electrical stimuli was reduced in the secondary area. The stimulus response functions to single laser and electrical stimuli were increased in the secondary area.     

Giant mitochondria in hepatocytes: a diagnostic hint for alcoholic liver disease

One hundred and sixty-five coded liver biopsy specimens were studied by light microscopy to evaluate the occurrence and diagnostic significance of giant mitochondria, which have been identified as periodic acid-Schiff-negative globular hyaline cytoplasmic inclusions of regular outline, clearly distinguishable from Mallory bodies. In 4 cases, electron microscopy confirmed that these globules were in fact enlarged mitochondria. The incidence of giant mitochondria was significantly higher in patients with high alcohol consumption (72%) than in those with low or no alcohol intake (10%). Their presence was related to the amount of daily ethanol consumption and to the shortness of abstinence before the biopsy. It was independent of other changes in the liver, and was detected with similar frequency in biopsies showing different alcoholic liver diseases. Our study emphasizes that giant mitochondria may be detected by light microscopy in a high proportion of alcoholics, and rarely in nonalcoholic liver diseases. Although less specific, they are much more frequent than Mallory bodies. Consequently they should be considered as a diagnostic hint of recent and heavy alcoholsm.     

Rhabdomyolysis and hypoxia associated with prolonged propofol infusion in children

Propofol, a new anesthetic, is now used more commonly to sedate patients in the intensive care unit. Propofol's rapid elimination has popularized its use to induce and maintain hypnosis in patients with refractory status epilepticus. It is also associated with occasional severe metabolic acidosis and hypoxia of indeterminate cause in children. We report a child and an adolescent who developed severe metabolic acidosis, progressive hypoxia, and rhabdomyolysis during maintenance infusion of propofol for the treatment of refractory status epilepticus. We suggest that propofol should not be used for prolonged sedation in children until its safety can be ensured.