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1.
IJMS-Iranian Journal of Medical Sciences. 2014; 39 (1): 29-35
em Inglês | IMEMR | ID: emr-177186

RESUMO

Background: The prevalence of allergic diseases has risen in the last decades. The objective of this study was to determine the common allergens in children via the skin prick test


Methods: This cross-sectional study recruited 313 allergic children [4 months to 18 years old] referred to the Asthma and Allergy Clinic of Children's Medical Center in Tehran. A questionnaire containing demographic data and patient history was completed. The Skin Prick Test [SPT] was selected according to the patients' history of food and/or aeroallergen sensitivity


Results: Patients [62.4% male, 37.6% female] with symptoms of asthma [n=141, 57.1%], allergic rhinitis [n=50, 20.4%], atopic dermatitis [n=29, 11.7%], and urticaria [n=20, 8.1%] were studied. Positive skin prick test to at least one allergen was 58.1%. The most prevalent allergens were tree mix [26%], Alternaria alternata [26%], weed mix [23.6%], Dermatophagoides farinae [22.9%], Dermatophagoides pteronyssinus [22.9%], milk [21.7%], eggs [20%], and wheat flour [18.3%]. Also, common allergens in the patients with different symptoms of allergic disorders were as follows: asthma [tree mix, weed mix, and Dermatophagoides farinae]; allergic rhinitis [Dermatophagoides farinae, tree mix, and Dermatophagoides pteronyssinus]; and atopic dermatitis [Alternaria alternata, Dermatophagoides pteronyssinus, and cockroaches]


Conclusion: Identifying allergens in each area is necessary and has an important role in the diagnosis and management of allergic disorders and possibility of performing immunotherapy. In this study, the most common aeroallergens were tree mix, Alternaria alternata, and weed mix and also the most common food allergens were milk, eggs, and wheat. Considering these data, appropriate preventive strategies can decrease the cost and morbidity of therapeutic actions

2.
Iranian Journal of Public Health. 2013; 42 (4): 397-401
em Inglês | IMEMR | ID: emr-140709

RESUMO

Toluene diisocyanate [TDI] is an imperative chemical substance used in the production of polyurethane foams, elastomers, paints and coatings that cause a variety of health problems in workers who are exposed in work places. This study aimed to determine the asthma symptoms and serum specific IgE levels in TDI exposed workers and comparing the results with healthy control group. All the plants that use TDI in the manufacturing of paint and glue in the west of Tehran Province entered to the study and all the workers [550] completed modified initial questionnaire of the NIOSH, the questions were consisted of asthma symptoms. For each symptomatic exposed worker one healthy, sex and age matched control selected. Total IgE and Specific TDI IgE tests were done for each case and control groups. Among 550 TDI exposed workers, 26[4.7%] had asthma symptoms. Nine [34.6%] of symptomatic workers who were exposed to TDI were active cigarette consumer versus 3[11.5%] unexposed workers, P=0.049[CI= 0.953-17.29] OR=4.059. Nine [34.6%] workers had positive family history of atopy versus 1[3.8%] unexposed workers, P=0.0138 [CI= 1.45-305.41] OR=13.24. TDI specific IgE was found in 2 TDI exposed workers and 1 unexposed worker [P=0.5]. Mean of total IgE was 339.05 in exposed workers [P=0.201]. This study provides clinical and paraclinical data of workers exposed to TDI and points to a relation between atopy and smoking habit with asthma symptoms that offer preventing recommendations for TDI exposed workers and their heath administrators

3.
Archives of Iranian Medicine. 2011; 14 (5): 315-320
em Inglês | IMEMR | ID: emr-122664

RESUMO

Worldwide, numerous people of all ages and ethnicities experience asthma. The achievements of current medical regimens for patients frequently depend on three factors: 1] knowledge of patients regarding this disease, 2] patient's attitude about asthma, including willingness to collaborate with the therapeutic group for disease control, and 3] patient's self-efficacy for controlling asthma. Therefore, this study examined the relationship between knowledge, attitudes, and self-efficacy with socio-economic factors in Iranian asthmatic patients during 2006 - 2008. Participants consisted of 120 adults referred to Milad Hospital, Tehran, Iran during 2006 to 2008 whose physicians diagnosed their asthma. Socio-demographic factors such as sex, age, education level, occupation, marital status, family history of asthma, disease costs, and period of sickness were reviewed. Assessments of knowledge, attitudes and self-efficacy were performed by the Persian version of an international standard questionnaire [KASE-AQ]. Data were analyzed by SPSS version 14. Among respondents, only 9 [7.5%] patients had good knowledge about asthma, 108 [90%] patients had a suitable attitude about their asthma and 103 [85.3%] patients had proper self-efficacy. We found a significant association between self-efficacy and attitude in asthmatic patients [P<0.05]. Although specific knowledge about asthma is low, however, favorable attitudes toward asthma create opportunities to intervene and improve asthma management among patients. However, the use of educational tools depends on patients' educational levels. Therefore, we recommend elevating asthma knowledge


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Adulto , Conhecimentos, Atitudes e Prática em Saúde , Autoeficácia , Inquéritos e Questionários , Fatores Socioeconômicos
4.
Iranian Journal of Allergy, Asthma and Immunology. 2011; 10 (2): 129-132
em Inglês | IMEMR | ID: emr-122689

RESUMO

SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results indicated that 13 mutations were found through cases which include 4 mutations in IL7R gene [T661I, I138V, T56A, C57W], 7 mutations in RAG1 [W896X, W204R, M324V, T731I, Ml006V, K820R, and R249H], and 2 mutations in RAG2 gene [R229W, deltaT251]


Assuntos
Humanos , Receptores de Interleucina-7/genética , Proteínas Nucleares/genética , Proteínas de Ligação a DNA/genética , Proteínas de Homeodomínio/genética , Mutação
5.
Iranian Journal of Pediatrics. 2010; 20 (1): 16-34
em Inglês | IMEMR | ID: emr-99066

RESUMO

Pediatric immunology came into sight in the second half of 20[th] century, when pediatricians and basic immunologists began to give attention to diagnosis and treatment of children with primary immunodeficiency diseases [PIDs]. Understanding the genetic and mechanistic basis of PIDs provides unique insight into the functioning of the immune system. By progress in basic and clinical immunology, many infrastructural organizations and academic centers have been established in many countries worldwide to focus on training and research on the immune system and related disorders. Along with progress in basic and clinical immunology in the world, pediatric immunology had a good progress in Iran during the last 33-year period. Now, patients with PIDs can benefit from multidisciplinary comprehensive care, which is provided by clinical immunologists in collaboration with other specialists. Patients with history of recurrent and/or chronic infections suggestive of PIDs are evaluated by standard and research-based testing and receive appropriate treatment. The progress in PIDs can be described in three periods. Development of training program for clinical fellowship in allergy and immunology, multidisciplinary and inter national collaborative projects, primary immunodeficiency diseases textbooks, meetings on immunodeficiency disorders, improvement in diagnosis and treatment, and construction of Iranian primary immunodeficiency association, Students' research group for immunodeficiencies, Iranian primary immunodeficiency registry, and the immunological societies and centers were the main activities on PIDs during these years. In this article, we review the growth of modern pediatric immunology and PIDs status in Iran


Assuntos
Humanos , Síndromes de Imunodeficiência/diagnóstico , Alergia e Imunologia/história , Bolsas de Estudo , Imunoglobulinas Intravenosas , Estudantes de Medicina , Pesquisa
6.
Iranian Journal of Allergy, Asthma and Immunology. 2009; 8 (1): 43-47
em Inglês | IMEMR | ID: emr-101032

RESUMO

X-linked Agammaglobulinemia [XLA] is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number. In order to determine the association of neutropenia among Iranian patients with XLA, hospital records of 30 patients with confirmed XLA in Children Medical Center Hospital, were reviewed. Eight out of 30 XLA patients [26.7%] developed neutropenia during the course of the disease. In two patients, episodes of neutropenia were identified before or at the time of diagnosis of XLA. Other six patients whom were not visited regularly and did not receive periodical immunoglobulin replacement therapy experienced neutropenia after diagnosis of XLA. Neutropenia in XLA is mainly associated with infection and is resolved with intravenous immunoglobulin replacement and antibiotics therapy


Assuntos
Humanos , Agamaglobulinemia , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X , Imunoglobulinas
7.
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (1): 19-24
em Inglês | IMEMR | ID: emr-87279

RESUMO

The human leukocyte antigen-B27 is one of the class I molecules of the major histocompatibility complex which is strongly associated with ankylosing spondylitis [AS]. The strength of the disease association with B27 varies markedly among racial and ethnic populations. It is an allele family, which constitutes about 31 subtypes, with a considerable geographic and ethnic difference in distribution. It is important to know whether certain subtypes show any preferential association with AS. Because there is no report regarding HLA-B27 subtypes in Iranian patients with AS, main purpose of the present study was to assess the frequency of subtypes of human leukocyte antigen [HLA]-B27 in patients with ankylosing spondylitis in Iranian population One hundred and nineteen AS patients [82 HLA-B27 positive and 37 HLA-B27 negative] were selected for this study. HLA-B27 positive patients were by polymerase chain reaction amplification with sequence-specific primers [PCR-SSP] for B 27 subtyping. The results of present study revealed that only two subtypes were detected in Iranian patients, including B 2705 [52 patients, 63.4%] and B 2702 [30 patients, 36.6%]. Our results showed a restricted number of HLA-B27 subtypes associated with AS in Iran and an elevated frequency of the B 2705 allele in these patients similar to other Euro-Caucasoid [Aryan] groups in the world


Assuntos
Humanos , Masculino , Feminino , Antígeno HLA-B27/análise , Reação em Cadeia da Polimerase
8.
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (3): 133-141
em Inglês | IMEMR | ID: emr-87296

RESUMO

Garlic is known as a potent spice and a medicinal herb with broad therapeutic properties ranging from antibacterial to anticancer and anticoagulant. Our previous studies have shown some immunoregulatory effects for aged garlic extract, suggesting a key role for 14-kD glycoprotein of garlic in shifting the cytokine pattern to T helper-1. In present study, we investigated the effect of 1, 2, and 3 times intraperitoneal injections of aged garlic extract on an established allergic airway inflammation in murine model [BALB/c mice]. The garlic extract, isolated by biochemical method, includes proteins precipitation by ammonium sulfate. After injection of the aged garlic extract, IFN-gamma, anti allergen specific IgE and IgG1 were measured in lavage and serum by ELISA and histological assessment was performed on the lung tissues. The results indicated that three-time intra peritoneal injections of the aged garlic extract caused a significant decrease in the hallmark criteria of allergic airway inflammation levels which included eosinophil percentage in lavage, peribronchial lung eosinophils, IgG1 level in lavage and serum, mucous producing goblet cells grade and peribronchial and perivascular inflammation. Our findings in the present research suggested that aged garlic extract has the potential of attenuation of inflammatory features of allergic airway inflammation in murine model


Assuntos
Masculino , Animais de Laboratório , Extratos Vegetais , Hipersensibilidade Respiratória , Ensaio de Imunoadsorção Enzimática , Camundongos , Imunoglobulina E/sangue , Imunoglobulina G/sangue , Interferon gama/sangue , Pulmão/química , Lavagem Broncoalveolar
9.
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (3): 157-162
em Inglês | IMEMR | ID: emr-87298

RESUMO

Selective deficiency of immunoglobulin A [IgA] is the most frequent primary hypogammaglobulinemia. As some IgA-deficient patients have IgA antibodies in their plasma which may cause anaphylactic reactions, blood centers usually maintain a list of IgA-deficient blood donors to prepare compatible blood components. In this study we determined the incidence of selective IgA deficiency [SIgAD] in normal adult Iranian population. 13022 normal Iranian blood donors were included in this study. The assay which we used was adapted to the manual pipetting system and ELISA reader was used for screening. Other classes of immunoglobulins [G, M], as well as secretory IgA and IgG subclasses were tested in IgA deficient cases by ELISA. SPSS was used for statistical analysis. Among 13022 studied cases, 11608 blood donors were males [89.14%] and 1414 were females [10.86%]. Their mean [ +/- SD] age and weight were 38.5 +/- 11 years and 82 +/- 12 Kg respectively. Twenty of the screened samples were found by means of ELISA to be IgA-deficient [less than 5mg/dl], [frequency; 1:651]. The data could indicate a compensation for IgA deficiency by serum IgM in one of our IgA deficient cases [Patient 5]. We observed a correlation between IgG3 and serum IgA in deficient cases [r=0.498, P=0.025]. Our results indicate that in present study the prevalence of S IgA D is in agreement with data from other Caucasians populations [from 1:300 to 1:700]. In conclusion, Selective IgA Deficiency could be almost asymptomatic in most cases in general population. Our study suggests that; due to high frequency of IgA deficiency in Iran, it seems necessary to measure IgA levels for every blood donor and blood recipient to find IgA deficient cases


Assuntos
Humanos , Masculino , Feminino , Imunoglobulina A , Doadores de Sangue , Deficiência de IgA/epidemiologia , Prevalência , Ensaio de Imunoadsorção Enzimática
10.
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (3): 169-175
em Inglês | IMEMR | ID: emr-87300

RESUMO

Common Variable Immunodeficiency [CVID] is a heterogeneous group of disorders characterized by hypogammaglobulinemia and an increased susceptibility to recurrent infections as well as autoimmunity and malignancies. Idiopathic Thrombocytopenic Purpura [ITP] and Autoimmune Hemolytic Anemia [AIHA] are two autoimmune disorders which may be seen in association with CVID. Among 85 CVID patients, seven cases had ITP and/or AIHA [8%]. Four of these patients had one or more episodes of ITP, one patient had AIHA, and two patients had both ITP and AIHA [Evans syndrome]. Almost, all patients experienced chronic and recurrent infections mostly in respiratory and gastrointestinal systems during the course of the disease. Among the seven patients, five presented their underlying disease with recurrent respiratory and/or gastrointestinal tract infections, while in two remaining patients, CVID was presented with ITP. Three patients died until now; two because of hepatic failure and one due to pulmonary hemorrhage. As CVID is prone to autoimmune disorders, it should be considered as a differential diagnosis of adult-onset ITP and possibly in children. Chronic and recurrent ITP, especially in the presence of propensity to respiratory and gastrointestinal infections mandate the evaluation for an underlying immune dysregulation such as CVID


Assuntos
Humanos , Masculino , Feminino , Anemia Hemolítica Autoimune , Púrpura Trombocitopênica Idiopática , Diagnóstico Diferencial , Inquéritos e Questionários
11.
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (4): 209-214
em Inglês | IMEMR | ID: emr-143482

RESUMO

Selective IgA deficiency [IgAD] [serum IgA concentration of <0.07 g/l] is the most common primary immunodeficiency in Caucasians, with an estimated prevalence of 1/600. There are strong indications for involvement of genetic factors in development of the disease and the frequency of several extended major histocompatibility complex haplotypes [including HLA-A1, B8, DR3, DQ2] have previously been shown to be increased among Caucasian patients with IgAD. PCR was used to type HLA B, DR, and DQ alleles in 29 Iranian individuals with IgAD and 299 Swedish individuals with IgAD. The results indicate a strong association with the HLA B14, DR1 alleles in Iranian subjects and HLA B8, B12, B13, B14, B40, DR1, DR3, DR7, DQ2 and DQ5 alleles in Swedish subjects. Differences in HLA association of IgAD in Iran and Sweden confirm the notion of a genetic background of the disease and that multiple, potentially different genes within the MHC region might be involved in the pathogenesis of IgAD in different ethnic groups


Assuntos
Humanos , Antígenos HLA , Reação em Cadeia da Polimerase
12.
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (4): 215-220
em Inglês | IMEMR | ID: emr-143483

RESUMO

Asthma is a complex and multifactorial disorder. Several studies have reported association between different HLA- DQB1 and HLA- DRB1 alleles and allergic asthma. The aim of the present study was to investigate the association of HLA-class II alleles and haplotypes, with total serum IgE and the results of the skin prick test in Iranian children with allergic asthma. A total of 112 patients with allergic asthma symptoms [75 males and 37 females] were selected randomly from the pediatric hospital. In some patients total serum IgE and prick test were determined. Data of this study shows that HLA-DRB1*12 significantly increased in asthmatic patients [4.5% vs. 0%, P-value=0.04]. HLA-DQB1*0603 and 0604 alleles were significantly higher in asthmatics than those in normal controls [10% vs. 0%, P-value= 0.0001; and 9.3% vs. 3.7%, P-value= 0.04, respectively]. The statistical significance was relinquished after p value correction for all alleles except for HLA-DQB1*0602 [Pc=0.03] and HLA-DQB1*0603 [Pc=0.0015]. Conversely, HLA-DQB1*0501 and 0602 were decreased in asthmatics compared to normal controls [7.5% vs. 13.5%, P-value= 0.05; and 4% vs. 12.5%, P-value= 0.002, respectively]. The mean of total IgE in patients was 483 IU, and it was significantly high about 1140 IU in asthmatic patients with positive skin prick test to house dust. The most frequent alleles in asthmatic patients with the total IgE>200 IU/mL were HLA-DRB1*11and 1401, HLA-DQA1*0505, HLA-DQB1*0301 and in patients with total IgE<200 IU/mL were HLA-DRB1*0301, 07 and 1301, HLADQA1*0201 and 0301, HLA-DQB1*0201. These data suggests that HLA-DRB1, DQA1 and DQB1 alleles and haplotypes might be implicated in susceptibility to allergy and asthma and serum IgE production. As asthma and atopy are multifactorial disorders, probably HLA genes are involved in the regulation of immune specific responses to common allergen


Assuntos
Humanos , Masculino , Feminino , Antígenos de Histocompatibilidade Classe II , Imunoglobulina E/sangue , Testes Cutâneos , Antígenos HLA , Criança
13.
Iranian Journal of Allergy, Asthma and Immunology. 2007; 6 (1): 37-40
em Inglês | IMEMR | ID: emr-94109

RESUMO

Hyper-IgM syndromes are characterized by profound reduction of serum IgG, IgA, and IgE levels with normal or increased concentrations of serum IgM. CD40 ligand deficiency is X-linked form of the disease, which results in a lack of immunoglobulin class switching from IgM to IgG in B cells. In addition to the recurrent infections, a number of patients suffer from neutropenia. There are some evidences indicating the effect of G-CSF in combination with intravenous immunoglobulin [IVIG] in improvement of neutrophil counts, which has become the most common procedure to control neutropenia. In this report we present a 6 year-old patient of CD40 ligand deficiency, who suffered from chronic, severe neutropenia. Administration of IVIG was started for him when the diagnosis was made at the age of 1.5 years and he was on the regular IVIG therapy after that time untill now for a period of 4.5 years. IVIG and prophylactic antibiotic therapy, despite cessation of granulocyte colony-stimulating factor, injection after one month, corrected the severe neutropenic state of this patient. It seems that regular administration of sufficient doses of IVIG can be useful in the management of neutropenia in CD40 ligand deficiency, which results in better quality of life with decreasing occurrence of infection


Assuntos
Humanos , Masculino , Neutropenia/tratamento farmacológico , Imunoglobulinas , Imunoglobulina M , Gerenciamento Clínico
14.
Iranian Journal of Allergy, Asthma and Immunology. 2007; 6 (3): 123-127
em Inglês | IMEMR | ID: emr-163958

RESUMO

During past few years, the Cupressus arizonica has been abundantly planted in Tehran, causing a significant increase of allergic diseases from the middle of winter to the beginning of spring. The aim of this study was the comparison of pollen protein content in two major varieties of C. arizonica planted in Tehran, including C. arizonica var. arizonica and C. arizonica var. glabra, in order to determine pollen's specificity of each variety and also to find out whether environmental conditions can influence pollen protein contents and its allergenic components. Pollen grains were directly collected from mature male cones of trees planted in different areas of the city. Pollen's proteins were extracted, and were analyzed by SDS PAGE. Total protein content of pollen extracts was measured by Bradford assay. Our investigations revealed noticeable differences in protein content of each variety. Bradford protein assay showed a higher total protein content in C. arizonica var. arizonica pollen extracts. A new major protein, with an approximate molecular weight of about 35 kDa was detected in both varieties. Immunoblotting using the serum of a cypress allergic subject showed that the protein with 35 kDa was also the major allergen of both varieties in pollen extracts. These results showed that there are some intraspecie specificities in Arizona cypress pollens. The major allergen of Cupresuss arizonica pollen, Cup a 1 [45 kDa], has been reported as the most representative protein in pollen extracts of Mediterranean countries, but in our autochthon extracts of both varieties, a protein band at 35 kDa was more representative. These observations seem to indicate that C. arizonica pollen protein content may be influenced by environmental conditions. Moreover, Immunoblot results provided a reliable indication on the allergenic activity of this new major protein band at 35kDa. The confirmation of these aspects would facilitate the preparation of an effective extract, improving the diagnosis of the allergy to the Cupressus arizonica pollen

15.
Iranian Journal of Allergy, Asthma and Immunology. 2007; 6 (3): 129-135
em Inglês | IMEMR | ID: emr-163959

RESUMO

Common variable immunodeficiency [CVID] is the most common symptomatic primary antibody deficiency, characterized by reduced serum immunoglobulins levels and increased susceptibility to recurrent pyogenic infections. In this study, we evaluated CD40 ligand expression on stimulated versus unstimulated T-helper lymphocytes of nine Common variable immunodeficient patients in comparison with fifteen normal controls. Phorbol myristate acetate [PMA] and Ionomycin were used to stimulate cells in vitro. After six hours stimulation, the cells were subjected to surface staining with three-color staining procedure. Events were analyzed by flow cytometer, using FloMax software. Results were reported as the percentage of lymphocytes expressing CD markers. We did not find any significant statistical difference in CD40 ligand expression between patients and controls [p>0.05], despite having stimulation documented by CD69 expression as activation marker in each run. The results of this study are in agreement with some other studies, indicating that CD40 ligand expression on stimulated T-helper lymphocytes of Common variable immunodeficiency patients is similar to normal controls

16.
Iranian Journal of Allergy, Asthma and Immunology. 2006; 5 (2): 79-83
em Inglês | IMEMR | ID: emr-128060

RESUMO

Interest in the impact of illness on day to day function is leading investigators to include both disease specific and generic health related quality of life [HR QOL] questionnaires in a broad range of clinical studies and to gain a full picture of the impact of asthma on the lives of children with this condition, it is necessary to make direct measurement of health related quality of life. In response to this need, we used the Juniper's pediatric asthma quality of life questionnaire [PAQLQ] and Juniper's Pediatric Asthma Caregiver's Quality of Life Questionnaire [PACQLQ] that has been developed based on guidelines for construction of over a dozen validated disease specific quality of life instruments. The PAQLQ consists of 23 items that in children with asthma have been identified as troublesome in their daily lives and PACQLQ that contains 13 items in two domains of emotional and activities disturbances. The study design consisted of an 18 month single cohort study. Patients participating in the study were 113 children, 7-17 years of age, with a wide range of asthma severity and their caregivers. For each patient a PAQLQ and for each caregiver a PACQLQ was completed. One week before visit patients recorded morning peak flow rates, medication use and symptoms in a diary. After complete physical examination, for determining of asthma severity, spirometry was performed. The questionnaires after statically analysis showed good levels of both longitudinal and cross sectional correlations with the conventional asthma indices and with general quality of life. We found that consistently QOL in boys were more disturbed than females, a good relevancy between severity of asthma and QOL scores and more disturbances of QOL in caregivers of male asthmatic patients than caregivers of female asthmatic patients. We could not find any significant relevancy between FEV1 percentage of predicted and overall scores of QOL. Smaller airways, and higher airway resistance and more activity of males than females may explain why boys have more disturbed life style than females

17.
Iranian Journal of Allergy, Asthma and Immunology. 2006; 5 (3): 121-126
em Inglês | IMEMR | ID: emr-137877

RESUMO

Primary immunodeficiency diseases [PIDs] are rare but include severe conditions found predominantly in children, Most PIDs have cutaneous manifestations that may be important as early diagnostic features. The purpose of this study was to determine the frequency and nature of cutaneous alterations associated with PIDs. This article is a cross-sectional study at the department of allergy and clinical immunology of children's medical center conducted between December 5, 2001 and April 20, 2002. The subjects included pediatric patients with a diagnosis of PID and dermatological diagnoses were made by a dermatologist. Two hundred and ten patients were studied They consisted of 68 cases of humoral deficiency, 22 cases of cellular and combined deficiencies, 57 cases of phagocytic defects and 63 cases of other PIDs. In 67 cases [31.8%] the cutaneous alterations preceded and were the basis for clinical immunological diagnosis. Overall cutaneous alterations were infections in 99 cases and eczematous dermatitis in 27 cases. Our findings support the results of other studies that most PIDs have cutaneous features which being their typical aspects are highly suggestive for the diagnosis of PIDs

18.
Genetics in the 3rd Millennium. 2006; 4 (4): 959-959
em Persa | IMEMR | ID: emr-164657

RESUMO

Ataxia-telangiectasia is an autosomal recessive disorder affecting 1/40000 to 1/100000 of reported populations. There is 25% possibility for having an affected child when parents are carriers for ATM gene mutation. There is no cure available for this disease and prenatal testing is strongly recommended to prevent this disease. Although preferred method is the direct mutation analysis of ATM gene, but large size of the ATM gene with 63 exons and the large number of possible mutations in patients considerably limit efficiency of mutation analysis as a choice in diagnosis. Indirect method is a better tool when parents are not carriers of founder mutation and pass different mutations to their children. Indirect molecular diagnosis using ATM related molecular markers facilitates prenatal diagnosis of AT children. In this study, four molecular markers: D11S2179, D11S1787, D11S535, D11S1343 are genotypes in 12 unrelated families [19 patients] from different regions of Iran. Those markers are amplified using extracted sequence primers from Gene Bank with their described PCR conditions. The amplified products were separated using denaturing PAGE gels, and the data were analyzed to detect their pattern of inheritance in each family. In all families, segregation of alleles were according to mandelian inheritance and affected chromosomes were distinguishable from unaffected ones. All carriers and affected patients were diagnosed accurately. Thus, this method is effectively usable in prenatal diagnosis of ataxia telangiectasia

19.
IJB-Iranian Journal of Biotechnology. 2006; 4 (1): 64-68
em Inglês | IMEMR | ID: emr-169721

RESUMO

Ataxia-Telangiectasia [AT] is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA [mtDNA] has the only non-coding regions at the displacement loop [D-loop] region that contains two hypervariable segments [HVS-I and HVS-II] with high polymorphism. We investigated mt-DNA deletions and haplogroups in AT patients. In this study, 24 Iranian patients suffering from AT and 100 normal controls were examined. mt-DNA was extracted from whole blood and examined by 6 primers for existence of mitochondrial deletions. We also amplified and sequenced the mtDNA HVS-I by standard sequencing techniques. mtDNA deletions were observed in 54.1% [13/24] of patients [8.9 kb deletion in all samples, 5.0 kb in one and 7.5 kb in two patients], representing mtDNA damage which may be due to oxidative stress in mitochondria. Our results showed that there is no association between mtDNA haplogroups and AT. This data may indicate involvement of mitochondrial damage in the pathogenesis of AT

20.
Iranian Journal of Allergy, Asthma and Immunology. 2006; 5 (4): 183-186
em Inglês | IMEMR | ID: emr-167354

RESUMO

Magnesium [Mg] is the second most abundant intracellular cation and is involved in numerous physiological functions, including protein folding, intracellular signaling and enzyme catalysis. It has been shown that magnesium deficiency exacerbates pulmonary airways hyperreactivity. Several studies suggest that magnesium level has no effect on asthma but others had shown a contributory effect. Because of its intracellular abundance, the aim of this study was to determine if there was any difference in plasma and intracellular Mg concentrations of children with acute asthma compared to non asthmatic children. Twenty nine patients with acute asthma aged 2 to 11 years admitted to the emergency department of hospital and 37 non asthmatic children with the same age were included in our study. O.5 mL of heparinized whole blood samples of patients who were meeting inclusion criteria at the onset of admission with bronchoconstriction and before using any medication was drawn and it was immediately sent to the laboratory. Plasma and erthrocytes were separated and stored at -20C and later their Mg levels were quantified with atomic absorption spectrophotometry method. The average plasma and intracellular magnesium levels in patients were [0.79 +/- 0.098 mmol/L] and [1.17 +/- 0.27 mmol/ L] respectively. Results of 37 non asthmatic persons [plasma [0.85 +/- 0.1 mmol/L] and erythrocytes [1.33 +/- 0.21 mmol/ L]] showed that there was no significant difference between plasma Mg levels in two groups [p 0.06] but intracellular magnesium level was significantly lower [p 0.03] in patients group. These results indicate that intracellular Mg level may be a more accurate method to assess Mg level in patients with asthma. Hence, determination of Mg concentration in erythrocytes may be used in evaluation of asthma pathophysiology. There are recommendations for using intravenous Mg sulfate in acute asthma, and this study supports the rational for using it in emergency departments for acute severe asthma

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