Laura Marques

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Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers,(More)
There is no absolute method of evaluating healing of a fracture of the tibial shaft. In this study we sought to validate a new clinical method based on the systematic observation of gait, first by assessing the degree of agreement between three independent observers regarding the gait score for a given patient, and secondly by determining how such a score(More)
Visceral leishmaniasis is a severe form of infection caused by a parasite endemic along the Mediterranean coast. Complications such as infection-associated hemophagocytic syndrome can occur despite correct therapy. We report visceral leishmaniasis-associated infection-associated hemophagocytic syndrome in 3 patients with chronic granulomatous disease.
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations,(More)
BK disease is an opportunistic infection in organ transplant recipients and patients with other cellular immunodeficiencies. To the best of our knowledge, we report the second case of BK meningoencephalitis associated with nephropathy in a kidney transplant recipient. A 15-yr-old boy underwent a cadaveric kidney transplant without complications; however, 11(More)
AIMS Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the phagocyte reactive oxygen species (ROS)-producing NOX2 enzyme complex and characterized by recurrent infections associated with hyperinflammatory and autoimmune manifestations. A translational, comparative analysis of CGD patients and the corresponding(More)
C Foster, A Bamford, A Turkova, S Welch and N Klein On behalf of the PENTA Guidelines Writing Group and PENTA steering committee The Family Clinic, Imperial College NHS Trust, London, UK, Paediatric Infectious Diseases, Great Ormond Street Hospital, London, UK, MRC Clinical Trials Unit, London, UK, Paediatrics, Birmingham Heartlands Hospital, Birmingham, UK(More)
Introduction: Gradenigo syndrome (also known as apical petrositis) is a clinical triad of otitis media, trigeminal neuralgia and ipsilateral abducens nerve palsy. In the era of antibiotic therapy, it is an exceptional but potentially life threatening complication of acute otitis media, requiring prompt diagnosis and treatment. Case report: A seven-year-old(More)
BACKGROUND Current national immunisation schedules differ between countries in terms of vaccine formulation, timing of vaccinations and immunisation programme funding and co-ordination. As a result, some HIV infected paediatric population may be left susceptible to vaccine preventable infections. Vaccines used in healthy population should be subjected to(More)
Zidovudine (ZDV) has been associated with risk of haematological toxicity. Safety data from clinical trials is generally limited to 48 weeks. We assessed the short- and mid-term toxicity of ZDV/lamivudine (3TC) fixed-dose combination scored tablets in HIV-infected children followed in the European Pregnancy and Paediatric HIV Cohort Collaboration (EPPICC)(More)