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Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.
Rheumatol Int
January 2018
Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities.
View Article and Find Full Text PDFAllergic diseases in subjects under 18 years living with HIV.
Allergy Asthma Clin Immunol
July 2014
Postgraduate Program in Health Sciences, University of Southern Santa Catarina, Avenida José Acácio Moreira, nº 787, Bairro Dehon, Tubarão, Santa Catarina Postal code: 88704-900, Brazil.
Background: In recent decades there has been an increase in the prevalence of allergic disease. Manifestations of these diseases have allegedly been observed in people living with Human Immunodeficiency Virus (HIV), however, few studies have been directed at patients under 18 years old. In this context, the aim of this study is to estimate the prevalence of allergic disease in patients under 18 years old, living with HIV, and to investigate the relationship between clinico-immunological characteristics of the HIV infection and atopy.
View Article and Find Full Text PDFN-methyl-D-aspartate receptor antibody-associated movement disorder without encephalopathy.
Dev Med Child Neurol
February 2014
Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.
N-methyl-D-aspartate receptor (NMDAR) antibody encephalitis is a well-recognized clinico-immunological syndrome that presents with a movement disorder, cognitive decline, psychiatric symptoms, and epileptic seizures. A pure monosymptomatic presentation is rare; however, some patients present predominantly with a movement disorder in the absence of encephalopathy. Here, we describe three paediatric patients with an NMDAR antibody-mediated movement disorder: a 5-year-old female with acute onset hemichorea, a 10-year-old female with generalized chorea, and a 12-year-old male with abdominal myoclonus.
View Article and Find Full Text PDFClinico-immunological profile and outcome of antiretroviral therapy in HIV-positive children.
Public Health Nutr
August 2012
Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
Objectives: To study the clinico-immunological, nutritional and growth characteristics of HIV-infected children and the impact of antiretroviral therapy (ART) on these parameters.
Design: Retrospective study.
Setting: Out-patient department of a paediatric ART centre, Delhi, India.
Myasthenia gravis and acetylcholine receptor antibodies: a clinico immunological correlative study on South Indian patients.
Ann Indian Acad Neurol
October 2008
Department of Neuromicrobiology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Unlabelled: Acquired myasthenia Gravis (MG), a disorder of impaired neuromuscular transmission is recognized as an autoimmune disorder, with a majority of the patients having antibodies against acetylcholine receptor (AChR antibodies) in the serum.
Aim And Objectives: To correlate the AChR antibody status with the clinical characteristics of patients with myasthenia gravis.
Study Design: Retrospective and prospective study.
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