The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950). We recently described an autosomal recessive form of multicentric osteolysis with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneous nodules and distinctive facies in a number of consanguineous Saudi Arabian families. We localized the disease gene to 16q12-21 by using members of these families for a genome-wide search for homozygous-by-descent microsatellite markers. Haplotype analysis narrowed the critical region to a 1.2-cM region that spans the gene encoding MMP-2 (gelatinase A, collagenase type IV; (ref. 3). We detected no MMP2 enzymatic activity in the serum or fibroblasts of affected family members. We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X. The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion.

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Purpose: To undertake an audit of the antimicrobial (AM) sensitivity pattern of bacterial isolates in the intensive care units (ICU) of a tertiary hospital of %). Lower respiratory tract infection (LRTI) was the most common infection. Imipenem, meropenem and levofloxacin were the most effective antimicrobials for Gramnegative isolates (GNIs) while vancomycin ciprofloxacin, and gentamicin were the most efficacious antimicrobials for Gram-positive isolates (GPIs). Widespread resistance to third generation cephalosporins and cloxacillin was noted for GNIs and GPIs, respectively. Meropenem (100 %) > levofloxacin (100 %) > sparfloxacin (94.4 %) > gentamicin (83.3 %)

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Ninety-three patients with PTE (that is, hematocrit 51% or greater) were identified among 431 renal transplant recipients, an incidence of 21.6%. Thirty-eight patients underwent blood volume measurements, and 22 of these had high red cell volume and therefore were considered to have true PTE. To analyze factors predictive of erythrocytosis, a control group with normal hematocrit was randomly selected from our renal transplant population and compared with the 93 patients with PTE, and with the 22 who had true PTE. Using step-wise logistic regression analysis, we identified three variables that were consistent predictors of PTE. In order of significance, the serum creatinine value at the onset of PTE appears to most strongly predict the occurrence of PTE (P less than 0.0001). As creatinine value increases, the probability of PTE decreases. Next was immunosuppression, where double immunosuppressive therapy was associated with a greater probability of PTE than triple therapy (P less than 0.0001). The overall incidence of PTE in patients on double therapy was 34%, while that for those on triple therapy 10.4%. Last was duration of dialysis for which increasing values correspond to increasing probability of PTE (P = 0.004). Comparison of the serum erythropoietin (EPO) levels for patients and controls yielded a nonsignificant result (P = 0.2507 and P = 0.383 for all patients with PTE and true PTE, respectively), and therefore EPO levels were inappropriately elevated for the level of hematocrit in the PTE group. Only the number of rejections and duration of follow-up (r = -0.3507) were significantly correlated with EPO (P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

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