228 research outputs found

    Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

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    Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes. Autosomal recessive mutations in a number of genes have also been described, including the BMP1 gene that encodes the mammalian Tolloid (mTLD) and its shorter isoform bone morphogenic protein-1 (BMP1). To date, less than 20 individuals with OI have been identified with BMP1 mutations, with skeletal phenotypes ranging from mild to severe and progressively deforming. In the majority of patients, bone fragility was associated with increased bone mineral density (BMD); however, the full range of phenotypes associated with BMP1 remains unclear. Here, we describe three children with mutations in BMP1 associated with a highly variable phenotype: a sibship homozygous for the c.2188delC mutation that affects only the shorter BMP1 isoform and a further patient who is compound heterozygous for a c.1293C>G nonsense mutation and a c.1148G>A missense mutation in the CUB1 domain. These individuals had recurrent fractures from early childhood, are hypermobile and have no evidence of dentinogenesis imperfecta. The homozygous siblings with OI had normal areal BMD by dual energy X-ray absorptiometry whereas the third patient presented with a high bone mass phenotype. Intravenous bisphosphonate therapy was started in all patients, but discontinued in two patients and reduced in another due to concerns about increasing bone stiffness leading to chalk-stick fractures. Given the association of BMP1-related OI with very high bone material density, concerns remain whether anti-resorptive therapy is indicated in this ultra-rare form of OI.© 2016 Wiley Periodicals, Inc

    Synthesis of mixed schiff base complexes of Cu(II) and Ni(II) and their spectral, magnetic and antifungal studies

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    719-721Mixed ligand schiff base complexes of Cu(II) and Ni(II) derived from 7-formyl-8-hydroxyquinoline and 2-hydroxy-4-metho benzophenone, 2-hydroxy-4-methoxyacetophenone, 2-hydroxy-1-acetophenone or l-hydroxy-2-acetophenone and ethylenediamine have been synthesised an their spectral, magnetic and anti-fungal studies carried out

    Pseudohypoparathyroidism: phenotypic spectrum in kindred

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    Recurrent ovarian torsion in a premenarchal girl

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    A 10-year-old girl presented with a recurrence of left ovarian torsion where she presented with intermittent left sided abdominal pain for 2 days. She had a similar presentation occuring 1 month ago. The patient underwent successful ovarian salvage with laparoscopic left ovary detorsion and bilateral oophoropexy 5 hours after presentation. Tumour markers were not raised. Intraoperative incisional ovarian biopsy showed no evidence of malignancy. Ovarian torsion is a rare gynaecological emergency in children with nonspecific symptoms. Early recognition and surgery are important to prevent ovarian necrosis. The presentation of acute onset unilateral abdominal pain on the background of a similar previous presentation should alert the clinician of this diagnosis. Although ovarian torsions occur more commonly in the presence of adnexal masses more than 5cm in size, it can also occur in normal ovaries especially in the premenarchal age group. Laparoscopic detorsion is the treatment of choice with oophoropexy a feasible option for prevention of a recurrence. Close follow up with ovarian surveillance is required to ensure resolution of ovarian enlargement
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