نتایج جستجو برای: deficiency syndrome

تعداد نتایج: 738061  

Journal: :Platelets 2007
James G White

Jacobsen syndrome and Paris-Trousseau Syndrome share similar congenital anomalies, thrombocytopenia, giant platelet alpha granules resulting from fusion of smaller organelles, and an 11q terminal deletion at 11q23.3. Similarities in the two cohorts have suggested that the Paris-Trousseau Syndrome is a variant of Jacobsen syndrome, or the same disorder. The present study has pointed out a signif...

Journal: :Journal of clinical microbiology 1988
P J Ruane L J Walker W L George

We report a case of fungemia and disseminated disease caused by a urease-negative strain of Cryptococcus neoformans in a patient with the acquired immune deficiency syndrome. Except for failure to hydrolyze urea, the microbiological characteristics of the isolate were typical of C. neoformans. Laboratory specialists should be aware of the occurrence of atypical strains of C. neoformans, particu...

2012
Roya Alavi-Naini

Please cite this paper as: Alavi-Naini R. Acquired Immune Deficiency Syndrome Status in Islamic Countries. Int J High Risk Behav Addict. 2012; 1(3): 90-1. DOI: 10.5812/ijhrba.7578 Implication for health policy/practice/research/medical education: Acquired Immune Deficiency Syndrome is a social-health problem all over the world, which has a soaring rate of prevalence. This article emphasize on t...

Journal: :MMWR. Morbidity and mortality weekly report 1983

MORBIDITY AND MORTALITY WEEKLY REPORT 697 Immunodeficiency among Female Sexual Partners of Males with Acquired Immune Deficiency Syndrome (AIDS) — New York 698 Formaldehyde Exposures in a Gross Anatomy laboratory — Colorado 700 Acquired Immune Deficiency Syndrome (AIDS) in Prison Inmates—New York. New Jersey 702 Update: Influenza—United States 707 Classification of Measles Cases and Categorizat...

2009
Cristina Maria Mihai Doina Catrinoiu Marius Toringhibel Ramona Mihaela Stoicescu Negreanu-Pirjol Ticuta Hancu Anca

BACKGROUND Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alström syndrome is an extremely rare, autosomal...

Journal: :The Egyptian Journal of Internal Medicine 2023

Abstract There are two forms of hyper-immunoglobulin E syndromes (HIES): a dominant form (AD-HIES) is caused by mutations in signal transducer and activator transcription 3 (STAT3), recessive (AR-HIES) dedicator cytokinesis 8 (DOCK8). DOCK8 autosomal hyper IgE syndrome patients have more symptomatic neurologic disease than those with STAT3 deficiency. Involvement the central nervous system HIES...

2013
S Federici J Frenkel S Ozen A Jordi JI Arostegui F De Benedetti P Dolezalova H Girschick V Hentgen M Hofer H Lachmann I Koné-Paut J Kuemmerle-Deschner B Neven H Ozdogan C Rose A Simon S Stojanov N Toplak I Touitou R Vesely P Woo C Wouters N Ruperto A Martini M Gattorno

Methods A web-based registry collecting baseline and crosssectional clinical information on Autoinflammatory diseases is available in the member area of the PRINTO web-site (www.printo.it). The registry is open to all pediatric and adult Centers with a specific interest in Autoinflammatory diseases. The following monogenic autoinflammatory diseases were considered: Familial Mediterranean Fever ...

2017
Muneeb Ilyas Collin M. Costello Amit Sharma

cSCC: cutaneous squamous cell carcinoma FNKD: functional natural killer cell deficiency HPV: human papillomavirus KIR: killer cell immunoglobulin-like receptor MHC: major histocompatibility complex NK: natural killer INTRODUCTION There are many conditions associated with the formation of numerous cutaneous squamous cell carcinomas (cSCCs), including, among others, xeroderma pigmentosum, epiderm...

Journal: :Medical journal of Zambia 2022

Abstract
 Hunter syndrome is one of the Mucopolysaccharidosis (MPS), type II. It a rare genetic disorder due to deficiency in enzyme Iduronate 2-sulphatase. This leads accumulation glycosaminoglycans (GAGs) dermatan sulphate and heparan sulphate. The GAGs accumulate both intracellularly extracellularly, leading abnormalities different organ systems body. definitive diagnosis requires bioch...

2017
Brian N McCullagh Alejandro P Comellas Zuhair K Ballas John D Newell M Bridget Zimmerman Antoine E Azar

Chronic Obstructive Pulmonary Disease is the third leading cause of death in the US, and is associated with periodic exacerbations, which account for the largest proportion of health care utilization, and lead to significant morbidity, mortality, and worsening lung function. A subset of patients with COPD have frequent exacerbations, occurring 2 or more times per year. Despite many intervention...

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