ABSTRACT
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. The enzyme is at least composed of membrane-bound subunits gp91-phox and p22-phox (also named cytochrome b558 ), and cytosolic ones p40-phox, p47-phox and p67-phox. A defect in the enzyme activity leads to impaired intracellular killing of phagocytic cells. The CYBA gene encoding p22-phox is located on chromosome 16q24. In this study, new genetic changes of CYBA gene in 22 Iranian patients with autosomal recessive-CGD (AR-CGD) were identified. Twenty-two patients with CGD were referred to Immunology, Asthma and Allergy Research Institute (IAARI) and enrolled in this study based on defect in NADPH oxidase activity, demographic data and clinical histories. All patients had p22-phox deficiency based on Western blotting. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMCs), and PCR followed by direct sequencing was performed to find p22-phox mutations. Mutation analysis of CYBA revealed 12 different mutations, including three novel mutations: one was deletion of exon 1, and two were point mutations in exon 3 (c.136G>A (p.Gly46Ser)), and exon 6 (c.388C>T (p.Gln130X)). Three new mutations of CYBA gene in four of 22 Iranian patients with AR-CGD were found. These three novel mutations can partly complete the database of Human Gene Mutation Database (HGMD) and other related ones. It can also be helpful for further prenatal diagnosis in the affected families. Given that currently bone marrow transplantation is considered to be the curative treatment for patients with CGD, finding mutations will also be useful for timely decision-making in bone marrow transplantation.
Subject(s)
Granulomatous Disease, Chronic/genetics , Mutation/genetics , NADPH Oxidases/genetics , Adolescent , Base Sequence , Blotting, Western , Child , Child, Preschool , DNA/genetics , Demography , Exons/genetics , Female , Humans , Infant , Iran , MaleABSTRACT
To evaluate the beliefs and practices of patients diagnosed with asthma about various aspects of their condition we interviewed 123 patients attending 2 outpatient departments of hospitals in Tehran. Most of the participants did not recall their past medical history of asthma. Many patients with a history of using oral inhalers did not use these regularly (41.9%); the major reason reported was feeling no need to use medication during symptom-free intervals. Only 32 (30.5%) patients demonstrated the correct technique for using their oral inhaler. Patients with asthma need more education about prevention and control of symptoms. Neglect by physicians of the Global Initiative for Asthma management guidelines was another major concern.
Subject(s)
Asthma , Health Knowledge, Attitudes, Practice , Medication Adherence , Outpatients , Patient Education as Topic , Self Care , Administration, Inhalation , Adolescent , Adult , Aged , Aged, 80 and over , Anti-Asthmatic Agents/therapeutic use , Asthma/prevention & control , Asthma/psychology , Female , Health Services Needs and Demand , Hospitals, Urban , Humans , Iran , Male , Medication Adherence/psychology , Medication Adherence/statistics & numerical data , Middle Aged , Nebulizers and Vaporizers , Outpatients/education , Outpatients/psychology , Self Care/methods , Self Care/psychology , Self Care/statistics & numerical data , Surveys and QuestionnairesABSTRACT
To evaluate the beliefs and practices of patients diagnosed with asthma about various aspects of their condition we interviewed 123 patients attending 2 outpatient departments of hospitals in Tehran. Most of the participants did not recall their past medical history of asthma. Many patients with a history of using oral inhalers did not use these regularly [41.9%]; the major reason reported was feeling no need to use medication during symptom-free intervals. Only 32 [30.5%] patients demonstrated the correct technique for using their oral inhaler. Patients with asthma need more education about prevention and control of symptoms. Neglect by physicians of the Global Initiative for Asthma management guidelines was another major concern
