Adult Hypophosphatemic Osteomalacia.

BACKGROUND: A 32-year-old lady of Asian descent presented with pain and severe stiffness of the back and hips progressively worsening over several years. She was diabetic but had no past medical history of rickets or renal disease. On examination she was of short stature with marked thoracic kyphosis and flattening of the lumbar spine. Spinal movements were globally restricted and the hips demonstrated a fixed flexion deformity. Her initial diagnosis had been ankylosing spondylitis until she had a MRI scan. Plain radiographs and further MRI of the hips were also performed. Subsequent laboratory tests revealed she was vitamin D deficient, normocalcemic with raised parathyroid hormone (PTH) and alkaline phosphatase.

Familial aggregation of psoriatic arthritis.

OBJECTIVES: The aim of this study was to determine the recurrence risk of psoriatic arthritis (PsA) and uncomplicated psoriasis in first-degree relatives (FDRs) of patients with PsA. METHODS: All available FDRs (full siblings, parents and children) of 100 consecutive consenting patients attending a PsA clinic were evaluated for the presence of psoriasis and PsA using a standard protocol. The protocol included a screening questionnaire, physical examination by a rheumatologist, and radiographic and laboratory assessment. The prevalence of PsA and psoriasis in FDRs of the index cases was determined, and the recurrence risk ratio (lambda) was calculated, assuming a population prevalence of PsA of 0.25%, and a population prevalence of psoriasis of 2%. RESULTS: The 100 probands had 533 relatives. Eighty-four of them were deceased and 53 were unavailable (age <16 years). Of the remaining 396 FDRs, 107 did not participate (living too far away/did not consent). Thus, 289/396 (73%) of the available FDRs participated in the study. There were 130 siblings, 108 parents and 51 children. The prevalence of PsA and psoriasis among FDRs was 7.6% and 15.2%, respectively. The lambda(1 )was 30.4 for PsA and 7.6 for psoriasis. The prevalence of PsA and psoriasis in siblings was 7.7% and 17.7%, respectively. The lambda(S) was 30.8 for PsA and 8.8 for psoriasis. CONCLUSIONS: The recurrence risk ratio for both PsA and psoriasis is high in FDRs and siblings of patients with PsA. These results confirm that both PsA and psoriasis have a strong heritable component.

Dactylitis in psoriatic arthritis: a marker for disease severity?

AIM: To describe dactylitis in a large cohort of patients with psoriatic arthritis followed prospectively in a specialist clinic, and identify whether it is associated with a worse prognosis. METHODS: Between 1979 and 1999, 537 patients were registered in the psoriatic arthritis clinic and entered onto a longitudinal database. Patients were followed prospectively at six to 12 month intervals according to a standard protocol, and all information was entered onto a database. The database was searched for patients with dactylitis. Descriptive statistics were used to describe the population and chi(2) tests to relate dactylitis to radiographic changes. RESULTS: Dactylitis was documented in 260 patients (48%); 69% of the episodes were recorded at presentation to the clinic. Dactylitis affected feet only in 65% of cases, hands only in 24%, and both hands and feet in 12%. Recurrent dactylitis occurred in 44% of the patients. Increased radiological progression was noted in digits showing dactylitis compared with those without dactylitis (50% v 38%, respectively; p<0.0001). CONCLUSIONS: Dactylitis is common among patients with psoriatic arthritis. It most often affects the feet, in an asymmetrical distribution. It is associated with a greater degree of radiological damage than occurs in digits not affected by dactylitis.

Treatment of refractory psoriatic arthritis with infliximab: a 12 month observational study of 16 patients.

OBJECTIVE: To evaluate the effectiveness and toxicity of infliximab in patients with recalcitrant psoriatic arthritis (PsA). METHODS: Patients with treatment resistant PsA and at least six actively inflamed joints, who had failed to respond to at least two disease modifying agents, were included. Infliximab (5 mg/kg) was given at weeks 0, 2, 6, and every 6-8 weeks pending response. Clinical and laboratory measures included actively inflamed joint count (AJC), swollen joint count (SJC), psoriasis severity (PASI), HAQ, and SF-36. Response was defined as at least a 30% reduction in AJC and PASI. Differences from baseline were analysed using the signed rank test. RESULTS: Sixteen patients (12 male, 4 female), mean age 48 and disease duration 14 years, were included. At baseline the mean AJC was 22.5 and mean PASI 4.5. Eleven patients continued receiving methotrexate. The AJC did not show a statistically significant response. SJC improved significantly at week 54 (p = 0.01). The PASI improved significantly at weeks 14 (p = 0.001) and 30 (p = 0.002) and CRP was reduced significantly at week 30 (p = 0.02). The HAQ score improved at week 30 (p = 0.02). Six patients became positive for dsDNA without clinical features of a connective tissue disease. Six patients discontinued treatment owing to lack of efficacy (1) and toxicity (5). Other serious adverse events included: urticaria (3); thrombocytopenia (1); lower gastrointestinal bleeding (2); severe diarrhoea (2); serious infections (6). Raised transaminases, at least 1.5x normal, occurred in four patients. CONCLUSION: In refractory PsA, infliximab led to a marked improvement in psoriasis but modest response in joint disease. Toxicity and rate of treatment termination was high.

Effects of suramin on the concentration--response relationship of alpha, beta-methylene ATP on the mouse vas deferens.

1. The effect of suramin on the concentration-effect curve for the contractile response of the isolated mouse vas deferens to alpha, beta-methylene ATP (alpha, beta-meATP) was investigated. 2. The concentration-response curve to alpha, beta-meATP had a consistent discontinuity at about 3 x 10(-6) M, giving it a biphasic appearance. 3. Suramin in a dose-dependent, reversible manner both shifted the curve to the right and at the same time elevated the maximum response. 4. The P2y inhibitor Reactive Blue 2, on the other hand, both shifted the curve to the left and elevated the maximum response. 5. These results show that alpha, beta-meATP in this preparation is an agonist both at excitatory, presumably P2y receptors and inhibitory P2y receptors, and that suramin antagonizes both effects.