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Anti-IL12p40 autoantibodies in a teenage girl with multiple recurrent abscesses.
Clin Immunol
September 2024
Immune deficiencies Lab, National Institute of Pediatrics, Mexico City, Mexico. Electronic address:
More frequent among adults, phenocopies may be caused by somatic mutations or anti-cytokine autoantibodies, mimicking the phenotypes of primary immunodeficiencies. A fourteen-year-old girl was referred for a two-year history of weight loss and multiple recurrent abscesses, complicated recurrent pneumonia, pyelonephritis, osteomyelitis, and septic shock, without fever. She had started with nausea, hyporexia, and weight loss, then with abscesses in her hands, knee, ankle, and spleen.
View Article and Find Full Text PDFComputed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.
Pediatr Radiol
February 2024
Department of Radiology, Children's Hospital Colorado, Aurora, CO, USA.
Background: Mutations in the T-Box 4 (TBX4) gene are a lesser-known cause of heritable pulmonary arterial hypertension (PAH). Patients with heritable PAH typically have worse outcomes when compared with patients with idiopathic PAH, yet little is known about the phenotypical presentation of this mutation.
Objective: This article reviews the pattern of chest CT findings in pediatric patients with PAH and TBX4 mutations and compares their radiographic presentation with those of age-matched patients with PAH but without TBX4 mutations.
Feasibility of home initiation of an airway clearance device (SIMEOX) by telecare in people with non-cystic fibrosis bronchiectasis: a pilot study.
BMJ Open Respir Res
July 2023
R&D, ICADOM-AGIR à dom, Meylan, France
Background: Mucociliary clearance is a cornerstone of the management of people with non-cystic fibrosis bronchiectasis (NCFB). SIMEOX, an innovative device, could facilitate autonomous airway clearance, but its use requires specific training. We hypothesised that telecare would be an effective means to train people with NCFB in the handling of device and to monitor and promote device adherence.
View Article and Find Full Text PDFBronchiectasis in Europe: data on disease characteristics from the European Bronchiectasis registry (EMBARC).
Lancet Respir Med
July 2023
IRCCS Humanitas Research Hospital, Milan, Italy; Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Background: Bronchiectasis is a heterogeneous, neglected disease with few multicentre studies exploring the causes, severity, microbiology, and treatment of the disease across Europe. This aim of this study was to describe the clinical characteristics of bronchiectasis and compare between different European countries.
Methods: EMBARC is an international clinical research network for bronchiectasis.
Novel Corona Virus 2019 Disease: Assessment on High-Resolution Computed Tomography Thorax.
Cureus
February 2023
Radiodiagnosis, Sri Devraj Urs Medical College, Kolar, IND.
Objectives This particular study was undertaken to assess the role of high-resolution computed tomography (HRCT) thorax in diagnosing patients with novel Corona virus-2019 disease and screening suspected COVID-19 cases. It also involves an assessment of the severity of bilateral lung involvement in proven and suspected cases of COVID-19 infection. Materials and methods Two hundred and fourteen symptomatic cases referred to the department of radio-diagnosis were evaluated in this study.
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