Cutaneous manifestations in antiphospholipid syndrome.

Antiphospholipid syndrome (APS) is a hypercoagulable state that leads to thrombosis and recurrent pregnancy loss related to the presence of antiphospholipid antibodies (LAC, anticardiolipin, antiA2-glycoprotein). Among cutaneous manifestations, livedo reticularis is the most frequent form of APS. In the literature, there are rare cases associated with diffuse skin necrosis (widespread skin necrosis) and intravascular thrombosis in the small vessels of the dermis. We describe the case of a 44-year-old man with positive anticardiolipin antibodies and protein S deficiency that developed scattered, bullous skin lesions, haemorrhagic in appearance with signs of necrosis as first clinical manifestation of antiphospholipid syndrome.

An incomplete form of childhood Behçet's disease treated with infliximab.

Behçet's disease (BD) is a multi-systemic vasculitis characterized by the possible presence of cutaneous, ocular, articular and neurological manifestations. In this report, we examine the case of a fifteen-year old boy with an incomplete form of juvenile Behçet's disease which began with joint involvement and developed into a complete form only after several years. The patient showed a rapid response to anti-TNF-alpha (infliximab) with an improvement of mucocutaneous lesions (oral and genital ulcers, pseudofolliculitis) and arthritis.

Regional differences of vitamin D deficiency in rheumatoid arthritis patients in Italy.

Vitamin D deficiency is very common in patients with rheumatoid arthritis (RA). Aim of this study was to evaluate the prevalence of vitamin D deficiency among the different Italian regions and whether these variations are associated with different severity of the disease. The study includes 581 consecutive RA patients (464 women), not taking vitamin D supplements, from 22 Italian rheumatology centres uniformly distributed across Italy. Together with parameters of disease activity (disease activity score 28), functional impairment (activities of daily living and health assessment questionnaire disability index) and mean sun exposure time, all patients had serum 25-hydroxyvitamin D (25OHD) measured in a centralized laboratory. Vitamin D deficiency (25OHD level <20 ng/mL) was very frequent among RA patients; its prevalence was 60%, 52% and 38% in southern, central and northern Italy, respectively. Mean disease activity and disability scores were worse in southern regions of Italy. These scores were inversely related to 25OHD levels and this correlation remained statistically significant after adjusting for both body mass index (BMI) and sun exposure time. However, disease severity remained significantly higher in southern regions versus central-northern Italy after adjustment also for serum 25OHD levels, age and BMI. In RA Italian patients there are significant regional differences in the prevalence of vitamin D deficiency explained by different BMI, and sun exposure time, and inversely associated with disease activity and disability scores.

Sacroiliac joint involvement in primary hyperparathyroidism: pathogenetic considerations.

The present report describes the first case of primary hyperparathyroidism with monolateral sacroiliac ankylosis assessed by coronal CT scans. The coexistence of ankylosis with erosive changes, without features of spondyloarthritis or degenerative changes, could be related to hyperparathyroidism.

Co-occurrence of psoriatic arthritis with collagenous colitis: clinicopathologic findings of a case.

A 58-year-old man developed psoriatic arthritis and, after 6 months, persistent watery diarrhoea. Biopsies from the colorectal mucosa showed thickened subepithelial collagen consistent with collagenous colitis. There also was an inflammatory cell infiltration (mainly lymphocytes and monocytes) in the chorion. These findings and the parallel course of articular and bowel complaints suggest a clinicopathologic correlation between arthritis and colic involvement.

Thyroid carcinoma. Correlation between clinical and pathological findings.

Our survey of 146 cases of thyroid carcinoma showed the following points: (a) in 20% of the cases the gland was diffusely enlarged without nodules; (b) in 35% of 34 cases, thyroid carcinoma was located in areas other than the "cold" zones; (c) multiple foci of carcinoma were found in 67% of cases with total or subtotal thyroidectomy and in 33% of cases with partial thyroidectomy; (d) anaplastic carcinomas (13% of cases) occurred in patients of all ages, 29% of them in patients younger than 30 years.

[Role for familial and genetic features in the therapeutic response of psoriatic arthritis]. / Valutazione della familiarità e dell'assetto genetico per la risposta terapeutica dell'artrite psoriasica.

AIM OF THE STUDY: To analyze PsA patients with and without a familiar distribution for Ps and PsA, in order to better evaluate the genetic data, to verify the existence of different expression of the disease and finally to define the susceptibility to treatment in these patients. MATERIALS AND METHODS: 230 PsA patients were selected for familiar or sporadic distribution of the disease and were evaluated for the main clinical, demographic, radiological and laboratory features, as well as for the ongoing treatments. In each patient HLA class I (A,B,C) and II (DRB1, DQB1) antigens were typed with PCR-SSP method while MICA-A exon 5 microsatellite typing was performed by heteroduplex analysis in 122 subjects. RESULTS: A familiar distribution for Ps and PsA was found in 68 patients (29.6%) although only two patients had familiarity for PsA. In the familiar PsA group the male prevalence was significantly higher respect to the sporadic one (p<0.001) and the more frequently involved relative was the father (28%). Mean age (p<0.006) and age at onset of Ps (p<0.004) and PsA (p<0.014) were significantly lower in familiar respect to sporadic PsA. Between the two groups no difference was found concerning the articular involvement, the radiological findings, the disease activity (including number of painful/swollen joints), the inflammatory laboratory parameters (including ESR and CRP) and genetic aspects, including the frequencies of MICA-A alleles that were analysed in 30 patients with the familiar form and in 92 with the sporadic one. In the follow-up the therapeutic response to any evaluated treatment adopted for PsA did not show any significant difference in the two groups. All these results were confirmed even when the patients in the two groups were matchable for sex, age and disease duration. CONCLUSION: Our results confirm that familiar PsA is characterized by an early onset of the disease and by a male and fatherly predominance respect to the sporadic form, although the clinical-radiologic findings, the genetic typing and the therapeutic response do not permit us to identify any particular subset.

[Anti-tissue transglutaminase antibodies in inflammatory and degenerative arthropathies]. / Anticorpi anti-transglutaminasi tissutale nelle artropatie a carattere infiammatorio e degenerativo.

Recent studies identified tissue transglutaminase (tTG) as the antigen eliciting antiendomysial antibodies (EMA) in celiac disease (CD). Anti-tTG antibodies have therefore been proposed as a serological test for CD. Nevertheless, IgA anti-tTG but not EMA have also been found in inflammatory bowel disease patients, suggesting that these antibodies are linked to a tissue lesion rather than to an auto-immune component of CD. To confirm this hypothesis, we evaluated the presence of IgA anti-tTG in patients with inflammatory and degenerative diseases, in whom tissue lesions presented far away from the intestinal mucosa. The study was carried out on the serum and synovial fluid (SF) of 68 patients with rheumatoid arthritis (RA=33), psoriatic arthritis (PsA=26) and osteoarthritis (OA=9). In RA, PsA and OA sera, IgA anti-tTG were positive in 33%, 42% and 11% of patients, respectively. Serum anti-tTG levels were significantly higher in RA (p<0.0001), PsA (p<0.0001) and OA (p<0.02) with respect to healthy controls. SF anti-tTG levels were significantly higher in PsA (p<0.018) than in OA. A good correlation between serum and synovial fluid anti-tTG levels was found in all arthropathies This study suggests that tTG is not the only antigen of EMA and, furthermore, that IgA anti-tTG antibodies represent a general lesion-associated event. Moreover, the significant correlation between serum and synovial fluid anti-tTG levels allow us to hypothesise that these antibodies could be synthesized in the site of arthritic lesions.

The incidence of duodenogastric reflux in peptic ulcer disease.

Using 99mTc diethyl HIDA, a gamma camera was used to assess duodenogastric reflux of bile in the supine position in control patients and patients with active duodenal ulceration. Cholecystokinin was injected intravenously during the test to contract the gall bladder. Patients with benign gastric ulcers, and a group of age matched controls, were investigated for duodenogastric bile reflux in the sitting position by a nasogastric aspiration technique after a 10% dextrose meal. Of 60 patients with duodenal ulceration 32 (53%) were reflux positive, and of 13 control patients 6 (46%) were positive. Of 30 patients with gastric ulceration 17 (53%) were reflux positive, and 8 out of 15 (53%) control subjects were positive. The incidence of duodenogastric reflux assessed supine in the fasting state, and seated after a liquid meal, was similar in patients with peptic ulceration and in normal controls.

Bile reflux after duodenal ulcer surgery. A study of 114 asymptomatic and symptomatic patients.

The hypothesis has been examined that the quantity of enteral contents refluxing into the stomach affects the severity of symptoms after peptic ulcer surgery. 99mTc HIDA scintigraphy was used to investigate the incidence and quantity of reflux in 20 normal subjects, in 94 symptomatic or asymptomatic patients after traditional operations for duodenal ulcer, and after revision of surgery for bile reflux gastritis. The percentage of the injected dose of 99mTc HIDA (PID) counted in the stomach area was used as an index of the quantity of refluxed bile. After duodenal ulcer surgery, symptomatic patients had a PID (6.2%) not significantly different (4.5%) from that of asymptomatic patients but higher than (2.1%) that of normals (p less than 0.05). After operations for reflux gastritis, 10 symptom free patients had no reflux, whereas 3 of 8 patients who remained symptomatic and had a short Roux-en-Y gastrojejunostomy, had persistent reflux.

Does duodenogastric reflux affect the rate of gastric emptying?

The gastric emptying of a liquid meal (10% dextrose solution) and a semi-solid meal (minced meat, peas, potatoes and milk) was measured in the sitting position; both meals were 400 ml. Duodenogastric reflux was assessed supine after intravenous injection of 75 MBq of 99 mTc HIDA and cholecystokinin. Patients were ajudged reflux positive (R+), or reflux negative (R-) by looking at gamma camera pictures. Thirty-two duodenal ulcer patients (DU), 22 patients after truncal vagotomy and pyloroplasty (TV+P) and 21 after proximal gastric vagotomy (PGV) were studied. In DU sufferers the mean volume of early liquid emptying in R+ patients (74 ml) was similar to R- patients (78 ml). After TV+P early liquid emptying was greatly increased (mean 176 ml) but no difference was found between R+ and R- patients. After PGV excessive early emptying was less common but emptying was significantly greater in R+ patients (R+ mean = 132 ml, SD = 48 n = 8; R- mean = 63 ml, SD = 21, N = 13: t = 4.2 p less than 0.001). There was no difference in solid meal emptying between R+ and R- patients in any group.

Sensitivity and reproducibility of a bile reflux test using 99mTc HIDA.

We have studied the sensitivity and reproducibility of entero-gastric bile reflux measurements using a gamma camera. Aspiration of the stomach at the end of the study in a group of 14 patients showed that less than 1% of the administered HIDA was present in 7 patients who were judged reflux negative. In all 7 patients considered reflux positive, there was more than 1% of the dose in the stomach (median 8.2%, p less than 0.01 Mann-Whitney). The second group of 20 patients was studied twice in the same week with a 48 h interval between the tests. The results were reproduced in 15 patients (75%). Finally, the gamma camera technique was compared with nasogastric aspiration on a separate occasion. There was agreement in 16 patients out of 19(84%). These results suggest that the test is sensitive, and the lack of reproducibility is compatible with day to day variation in entero-gastric reflux.

Does gastric entubation cause entero-gastric reflux?

Using 99mTc diethyl HIDA, we have examined patients with duodenal and gastric ulceration for the effect of naso-gastric intubation on bile reflux. Fourteen patients with duodenal ulceration were studied supine under a gamma camera. Activity from the stomach area showed no significant change before and after naso-gastric intubation (Mann-Whitney U = 0.18). Nineteen patients with gastric ulceration were investigated for bile reflux using two techniques. One method used the gamma camera but without naso-gastric intubation. The other method involved passing a naso-gastric tube and aspirating aliquots of a liquid meal which were analysed for 99mTc HIDA content. The incidence of bile reflux in patients with gastric ulceration was the same when the results of the two methods were compared. We conclude that investigation of groups of patients for duodeno-gastric reflux by naso-gastric aspiration of gastric contents is a valid technique.

Gastric histology and its relationship to entero-gastric reflux after duodenal ulcer surgery.

Thirty-six volunteers, asymptomatic 7 to 22 years after various operations for duodenal ulcer, were screened for enterogastric reflux by external scanning following injection of 99mTc HIDA; they also had endoscopy for measurement of the fasting juice pH, and multiple biopsies. In patients with a pH above 4 there was an association between a positive bile reflux test and the presence of pre-malignant changes in the gastric mucosa. Carcinoembryonic antigen in the gastric mucosa was found in all patients and was not, therefore, a useful screening test for stump cancer. Blind examination of two sets of endoscopic biopsies obtained 6 weeks apart in symptomatic patients with post-operative reflux gastritis showed that histological assessment remained reproducible. Gastric biopsies obtained from 16 patients before, and a year after, Roux-en-Y gastro-jejunostomy demonstrated that foveolar hyperplasia tended to regress after bile diversion.

The pharmacokinetics of 99mTc HIDA in man and its relationship to intra-gastric bile acids.

We have examined the pharmacokinetics of 99mTc diethyl HIDA in five patients with a T-tube inserted into their common bile duct after choledocotomy. Blood clearance was rapid with 27.5% of the injected dose in the circulation at 2.5 min and 5% at 30 min. The peak bile excretion of 15.4% occurred between 45 and 60 min after injection of the HIDA. By 2 h 69% of the dose was excreted in the bile and 14% in the urine. In a second group of 33 patients a naso-gastric tube was passed after injection of HIDA. The patients drank 400 ml of 10% dextrose and aliquots of the stomach contents were aspirated every 10 min for an hour. In specimens with a pH greater than 4, the amount of HIDA correlated well (p less than 0.01) with the amount of bile acid determined by an enzymatic method.

Quantitation and the elimination of errors in bile reflux tests using a gamma camera.

Entero-gastric reflux may be assessed quantitatively using 99mTc HIDA and a gamma camera. We have devised a computer program which applies corrections for several sources of error. The technique was validated using naso-gastric aspiration and phantom experiments. In 23 patient studies, 13 patients considered not to show reflux by visual assessment had a mean percentage injected dose (PID) in the stomach of 1.9% before correction and less than 1% after correction. The 10 patients with reflux showed a fall of PID from 5.8% to 1.7% as a result of the correction. In 14 patients the mean PID in the stomach after computer correction (3%) was not significantly different from that (3.5%) measured by aspiration. Computer correction of bile reflux data is essential when attempting to quantify the amount of entero-gastric reflux using a gamma camera.