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1.
Clin Immunol ; 259: 109896, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38184287

RESUMEN

BACKGROUND: Inborn errors of immunity (IEI) are a diverse range of genetic immune system illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and incomplete penetrance have been reported in IEI patients with similar clinical diagnoses or even the same genetic mutation. METHODS: Among all recorded patients in the national IEI registry, 193 families with multiple cases have been recognized. Clinical, laboratory and genetic variability were compared between 451 patients with different IEI entities. RESULTS: The diagnosis of the first children led to the earlier diagnosis, lower diagnostic delay, timely treatment and improved survival in the second children in the majority of IEI. The highest discordance in familial lymphoproliferation, autoimmunity and malignancy were respectively observed in STK4 deficiency, DNMT3B deficiency and ATM deficiency. Regarding immunological heterogeneity within a unique family with multiple cases of IEI, the highest discordance in CD3+, CD4+, CD19+, IgM and IgA levels was observed in syndromic combined immunodeficiencies (CID), while non-syndromic CID particularly severe combined immunodeficiency (SCID) manifested the highest discordance in IgG levels. Identification of the first ATM-deficient patient can lead to improved care and better survival in the next IEI children from the same family. CONCLUSION: Intrafamilial heterogeneity in immunological and/or clinical features could be observed in families with multiple cases of IEI indicating the indisputable role of appropriate treatment and preventive environmental factors besides specific gene mutations in the variable observed penetrance or expressivity of the disease. This also emphasizes the importance of implementing genetic evaluation in all members of a family with a history of IEI even if there is no suspicion of an underlying IEI as other factors besides the underlying genetic defects might cause a milder phenotype or delay in presentation of clinical features. Thus, affected patients could be timely diagnosed and treated, and their quality of life and survival would improve.


Asunto(s)
Diagnóstico Tardío , Calidad de Vida , Niño , Humanos , Proteínas Adaptadoras Transductoras de Señales , Antígenos CD19 , Autoinmunidad , Proteínas Serina-Treonina Quinasas , Péptidos y Proteínas de Señalización Intracelular
2.
J Allergy Clin Immunol ; 150(5): 1059-1073, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36113674

RESUMEN

BACKGROUND: Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the infection leads to hypoxemic pneumonia, although it is much more rare in children. OBJECTIVE: We evaluated 31 young patients aged 0.5 to 19 years who had preexisting inborn errors of immunity (IEI) but lacked a molecular diagnosis and were later diagnosed with coronavirus disease 2019 (COVID-19) complications. METHODS: Genetic evaluation by whole-exome sequencing was performed in all patients. SARS-CoV-2-specific antibodies, autoantibodies against type I IFN (IFN-I), and inflammatory factors in plasma were measured. We also reviewed COVID-19 disease severity/outcome in reported IEI patients. RESULTS: A potential genetic cause of the IEI was identified in 28 patients (90.3%), including mutations that may affect IFN signaling, T- and B-cell function, the inflammasome, and the complement system. From tested patients 65.5% had detectable virus-specific antibodies, and 6.8% had autoantibodies neutralizing IFN-I. Five patients (16.1%) fulfilled the diagnostic criteria of multisystem inflammatory syndrome in children. Eleven patients (35.4%) died of COVID-19 complications. All together, at least 381 IEI children with COVID-19 have been reported in the literature to date. Although many patients with asymptomatic or mild disease may not have been reported, severe presentation of COVID-19 was observed in 23.6% of the published cases, and the mortality rate was 8.7%. CONCLUSIONS: Young patients with preexisting IEI may have higher mortality than children without IEI when infected with SARS-CoV-2. Elucidating the genetic basis of IEI patients with severe/critical COVID-19 may help to develop better strategies for prevention and treatment of severe COVID-19 disease and complications in pediatric patients.


Asunto(s)
COVID-19 , Humanos , Niño , COVID-19/genética , SARS-CoV-2 , Anticuerpos Antivirales , Autoanticuerpos
3.
Pharmacoepidemiol Drug Saf ; 31(5): 592-603, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35187734

RESUMEN

BACKGROUND: Pharmaceutical medications are considered an important component of healthcare delivery and there is a need for its rational use; although there have been major improvements in the pharmaceutical sector in the recent past, inappropriate medication use is considered a major threat to patients' health. Therefore, the pattern of medication use should be monitored routinely. The aim of this study was to investigate the population-based prevalence of polypharmacy and the patterns of medication use in southwestern Iran. We also investigated correlates between polypharmacy and patterns of medication use. METHODS: Data from the Khuzestan Comprehensive Health Study (KCHS) which consists information of 30 506 with age range to 20 to 65 years were used. Crude and age-standardized prevalence of polypharmacy and their 95% confidence intervals were estimated for different subpopulations. Multivariable Poisson regression modeling was applied, and adjusted prevalence ratios and their 95% confidence intervals were estimated. The Anatomical Therapeutic Chemical classification system (first and second levels) was used for drug classification in different groups based on age, gender, and socioeconomic status. RESULTS: Out of 30 506 adults, 93.3% were not on any medications, and age- and gender-standardized prevalence of polypharmacy was 0.24%. The lowest estimated prevalence was among Arab participants (0.13%). The prevalence of polypharmacy was 1.57% among elderly people, and 4.78% among patients with heart diseases. Socioeconomic status was not associated with polypharmacy (prevalence ratio: 0.95; p = 0.573) but was significantly associated with patterns of medications use for alimentary tract and metabolism and nervous system diseases. The most common drug classes were cardiovascular system (3.93%), alimentary tract and metabolism (2.79%), nervous system (1.01%), systemic hormonal preparations (0.69%), and blood and blood-forming organs (0.38%). CONCLUSIONS: The prevalence of polypharmacy is very low in Khuzestan province, especially in the Arab population. Future research is needed to investigate the causes of medication underuse in this population.


Asunto(s)
Prescripción Inadecuada , Polifarmacia , Adulto , Anciano , Estudios Transversales , Humanos , Irán/epidemiología , Persona de Mediana Edad , Preparaciones Farmacéuticas , Lista de Medicamentos Potencialmente Inapropiados , Prevalencia , Adulto Joven
4.
BMC Public Health ; 22(1): 168, 2022 01 25.
Artículo en Inglés | MEDLINE | ID: mdl-35073904

RESUMEN

BACKGROUND: Despite all recent health-related improvements, anemia remains an extensive global public health issue affecting the lives of about one-fourth of the world population in a geographically heterogeneous pattern. We, therefore, aimed to illustrate the prevalence, severity, most common types, and major determinants of anemia among adults in Khuzestan, Iran, from 2016 to 2019. METHODS: In a large population-based cross-sectional study comprising of a diverse population, each participant underwent a questionnaire-based interview and laboratory testing for hematological analysis. A hemoglobin (HGB) concentration of < 12 g/dL in non-pregnant women and < 13 g/dL in men were defined anemic. The multivariate logistic regression analysis was performed to explore the association between anemia and its potential determinants. RESULTS: Data on 29,550 (96.87%) males and non-pregnant females between 20-65 years of age (mean age: 41.90 ± 11.88 years; female sex: 63.58%; Arab ethnicity: 48.65%), whose HGB level was available, were included in the study. The mean ± SD HGB concentration was 13.75 ± 1.65 g/dL. The age- and sex-standardized prevalence rate of anemia was 10.86% (95% CI: 10.51-11.23%). The most prevalent degree was mild anemia (7.71%, 95% CI: 7.40-8.03%) and only 0.17% were severely anemic. Of those considered anemic, the highest proportion was related to normochromic/microcytic (50.65%), followed by hypochromic/microcytic (30.29%). In the multiple logistic regression, the parameters of female gender (OR: 3.17, 95% CI: 2.68-3.76), age group of 35-49 years (OR: 1.66, 95% CI: 1.52-1.82), being underweight (OR: 1.58, 95% CI: 1.29-1.93), being unemployed or retired (OR: 1.55, 95% CI: 1.33-1.81), and living in urban areas (OR: 1.18, 95% CI: 1.09-1.29) were major determinants of anemia. Additionally, we observed a minor but significant positive association between anemia status and CKD, older ages, increased night sleep duration, being a housewife and married, as well as a negative association between anemia and factors including hookah smoking, presence of metabolic syndrome, and overweight and obesity. CONCLUSIONS: Taken together, the anemia prevalence in this study population was of mild public health significance. The major suspected causes might be iron deficiency and chronic disease anemias. Comparably higher rates of anemia were observed amongst women, individuals aged 35-49 years, underweights, unemployed or retired subjects, and urban residents.


Asunto(s)
Anemia , Adulto , Anciano , Anemia/epidemiología , Anemia/etiología , Estudios Transversales , Femenino , Hemoglobinas/análisis , Humanos , Irán/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Adulto Joven
5.
J Res Med Sci ; 27: 79, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36438076

RESUMEN

Background: The main aim of the present study is to investigate the independent association objectively measured level of physical activity (PA) and serum concentration of liver aminotransferases (alanine aminotransferase [ALT] and aspartate aminotransferase [AST]) among seemingly healthy individuals. Materials and Methods: The current secondary study was conducted in the framework of Khuzestan Comprehensive Health Study, a large population-based multicentric cross-sectional study, conducted between 2016 and 2019 on 18,966 individuals living in Khuzestan province, southwestern Iran. International PA Questionnaire was used for evaluating PA levels, and participants were divided into three groups: low, moderate, and high PA, and ALT and AST were compared between these groups. Results: The mean ± standard deviation age of participants was 38.65 ± 11.40 years. The majority of participants were female (71%). The mean concentration of ALT in total sample was 18.22 ± 13.06 (male: 23.65 ± 16.26 and female: 15.57 ± 10.06), while the mean concentration of ALT in total sample was 19.61 ± 8.40 (male: 22.44 ± 10.03 and female: 18.23 ± 7.08). A statistically significant inverse correlation was found between AST (r = -0.08, P = 0.02) and ALT (r = -0.038, P < 0.001) with total PA score. The mean concentration of ALT was 19.96 ± 13.63 in people with low PA, 17.62 ± 12.31 with moderate PA, and 18.12 ± 13.47 with high PA (P < 0.001). The mean concentration of AST in total sample was 20.37 ± 8.85 in people with low PA, 19.21 ± 8.83 with moderate PA, and 19.75 ± 8.85 with high PA (P < 0.001). The difference between people in different levels of PA in terms of mean concentration of AST was remained significant (P = 0.003); however, the difference for ALT was not remained significant after adjusting potential confounders. Conclusion: The current study based on large sample showed that PA had a statistically negative association with the concentration of liver aminotransferases in the seemingly healthy individuals; however, the observed associations were weak. People in the lowest levels of PA had the highest levels of ALT and AST.

6.
Med J Islam Repub Iran ; 36: 67, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36128320

RESUMEN

Background: Transmission routes of COVID-19 have been well identified and documented. Considering the high prevalence of the Covid-19 and its impacts on the population, this study aimed to assess the status of preventive behaviors against coronavirus infection and estimate the odds of its transmission routes among people. Methods: A comparative study was conducted from March to April 2021. A total of 1256 participants were randomly selected, including 262 COVID-19 patients and 994 healthy people from 10 counties in Khuzestan, southwest Iran. A two-part questionnaire was used for data collection that included items on demographic and adherence to preventive behaviors. Statistical analysis was performed using the statistical software SPSS 18.0.0 applying logistic regression. Results: The mean age of participants was 37.60±11.48 years (female: 36.49±11.15 years; male: 38.86±11.74 years). The results showed that having contact with infected patient at home (OR = 4.90, 95%CI = 3.32-7.25), going to the hospital for not-necessary medical reasons (OR = 4.47, 95%CI = 3.05-6.55), leaving home for essential daily services (OR = 2.49, 95% CI = 1.63-3.81), and going to doctors' office (OR = 1.78, 95% CI = 1.20-2.63) could increase the odds of infection. Conclusion: The findings suggest that different factors are responsible for the increased spread of the Covid-19. Indeed, since the intervention for every single factor will have a small contribution to reducing the prevalence of the disease, it seems essential to design comprehensive interventions while emphasizing isolation and contacts tracing. The study provides evidence for multi-level and multi-faceted policy and interventions for promoting adherence to COVID-19 preventive behaviors.

7.
Med J Islam Repub Iran ; 36: 128, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36620471

RESUMEN

Background: It is well established that upper and lower airways are often clumped together when diagnosing and treating a disease. This study was designed to determine the prevalence of upper and lower airway diseases and to assess the effect of sociodemographic factors on the prevalence and the comorbidity of these disorders. Methods: This cross-sectional population-based study included patients with ages ranging between 15 to 65 years, who were referred to allergy outpatient clinics in various provinces of Iran from April to September 2020. A modified global Allergy and Asthma European Network (GA2LEN) screening questionnaire was filled out by local allergists of the 12 selected provinces in Iran. Information about the patients and sociodemographic factors was also recorded. Statistical analysis was done by univariate statistical analyses and multiple logistic regressions in SPSS software Version 26. Results: Out of 4988 recruited patients, 1078 (21.6%) had the symptoms of allergic rhinitis (AR) and 285 (5.7%) met the criteria of asthma. The prevalence of acute rhinosinusitis (ARS) and chronic rhinosinusitis (CRS) was 21.6 % and 22%, respectively. The highest prevalence of AR and ARS was in Tehran with the arateof of 33.9% each. Asthma was more prevalent in Khuzestan (14.2%) and CRS in Baluchestan (57.5%). Our analysis showed that the patients with asthma were most likely to have other allergic diseases as well-CRS (OR = 4.8; 95% CI, 2.02- 5.82), AR (OR= 2.5, 95% CI, 2.10-3), ARS (OR = 1.8; 95% CI, 2.10-3), followed by eczema (OR = 1.4; 95% CI, 1.13-1.67).We found that those individuals with CRS were most likely to have painkiller hypersensitivity (OR= 2.1; 95% CI, 1.21-3.83). Furthermore, smoking has been found more than 1.5 folds in patients with ARS. After adjusting variables, there was no correlation between education, occupation, and ethnicity with the studied diseases. Conclusion: Rhinosinusitis is a common condition among Iranian patients. This study confirmed that inflammation of the upper and lower airways can occur simultaneously. Gender, education, occupation, and ethnicity were found to be irrelevant in the development of either AR, asthma, ARS, or CRS.

8.
J Clin Immunol ; 41(2): 345-355, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33263173

RESUMEN

Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real impact of this pandemic on pediatric patients with different types of primary immunodeficiency (PID) is not elucidated. The current prospective study on a national registry of PID patients showed that with only 1.23 folds higher incidence of infections, these patients present a 10-folds higher mortality rate compared to population mainly in patients with combined immunodeficiency and immune dysregulation. Therefore, further management modalities against COVID-19 should be considered to improve the survival rate in these two PID entities using hematopoietic stem cell transplantation and immunomodulatory agents.


Asunto(s)
COVID-19/complicaciones , COVID-19/epidemiología , Evaluación del Impacto en la Salud , Enfermedades de Inmunodeficiencia Primaria/complicaciones , Enfermedades de Inmunodeficiencia Primaria/epidemiología , SARS-CoV-2 , COVID-19/diagnóstico , COVID-19/virología , Preescolar , Toma de Decisiones Clínicas , Comorbilidad , Manejo de la Enfermedad , Femenino , Humanos , Lactante , Masculino , Mortalidad , Enfermedades de Inmunodeficiencia Primaria/diagnóstico , Vigilancia en Salud Pública , Índice de Severidad de la Enfermedad
9.
Popul Health Metr ; 19(1): 26, 2021 05 25.
Artículo en Inglés | MEDLINE | ID: mdl-34034752

RESUMEN

BACKGROUND: In 2017, the American College of Cardiology/American Heart Association (ACC/AHA) provided a new guideline for hypertension prevention and management. We aimed to update the prevalence, awareness, control, and determinants of hypertension based on this guideline in Khuzestan province, southwest of Iran, and to estimate the number of people who are eligible for non-pharmacologic and pharmacologic intervention. METHODS: This population-based cross-sectional study was conducted in Khuzestan, a large province in the southwest of Iran. Comprehensive information about the potential relating factors of hypertension was collected, blood pressure was measured, and anthropometric measurements were obtained. Moreover, the dietary pattern was evaluated in 2830 individuals, using a qualitative food frequency questionnaire. RESULTS: Among 30,506 participants, 30,424 individuals aged 20-65 years were eligible for the study. In comparison with the previous guideline released by the Joint National Committee (JNC8), the prevalence of hypertension in Khuzestan dramatically increased from 15.81 to 42.85% after implementation of the ACC/AHA guideline, which was more dominant in the male population and the 45-54 age group. The sex and age adjustment of the hypertension prevalence was estimated to be 39.40%. The percentage of hypertension awareness, treatment, and control were 45.85%, 35.42%, and 59.63%, which dropped to 22.72%, 26.37%, and 28.94% after implementation of new guideline, respectively. CONCLUSIONS: In the ACC/AHA guideline, a higher number of individuals with the pre-hypertension condition were shifted into the hypertension category and the level of awareness, treatment, and control were dramatically decreased, which highlight a great need to expand the public health infrastructure for further managing the substantial increased burden on healthcare system. However, further studies with population over 65 years are required to estimate the eligibility for antihypertensive treatment in this province after implementation of new guideline.


Asunto(s)
Hipertensión , Presión Sanguínea , Estudios Transversales , Humanos , Hipertensión/tratamiento farmacológico , Hipertensión/epidemiología , Irán/epidemiología , Masculino , Prevalencia , Factores de Riesgo , Estados Unidos
10.
BMC Endocr Disord ; 21(1): 135, 2021 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-34187451

RESUMEN

BACKGROUND: The Middle East and North Africa (MENA) is postulated to have the highest increase in the prevalence of diabetes by 2030; however, studies on the epidemiology of diabetes are rather limited across the region, including in Iran. METHODS: This study was conducted between 2016 and 2018 among Iranian adults aged 20 to 65 years residing in Khuzestan province, southwestern Iran. Diabetes was defined as the fasting blood glucose (FBG) level of 126 mg/dl or higher, and/or taking antidiabetic medications, and/or self-declared diabetes. Prediabetes was defined as FBG 100 to 125 mg/dl. Multinomial logistic regression models were used to examine the association of multiple risk factors that attained significance on the outcome. RESULTS: Overall, 30,498 participants were recruited; the mean (±SD) age was 41.6 (±11.9) years. The prevalence of prediabetes and diabetes were 30.8 and 15.3%, respectively. We found a similar prevalence of diabetes in both sexes, although it was higher among illiterates, urban residents, married people, and smokers. Participants aged 50-65 and those with Body Mass Index (BMI) 30 kg/m2 or higher were more likely to be affected by diabetes [RR: 20.5 (18.1,23.3) and 3.2 (3.0,3.6)]. Hypertension [RR: 5.1 (4.7,5.5)], waist circumference (WC) equal or more than 90 cm [RR: 3.6 (3.3,3.9)], and family history [RR: 2.3 (2.2,2.5)] were also significantly associated with diabetes. For prediabetes, the main risk factors were age 50 to 65 years [RR: 2.6 (2.4,2.8)], BMI 30 kg/m2 or higher [RR: 1.9 (1.8,2.0)], hypertension and WC of 90 cm or higher [RR: 1.7 (1.6,1.8)]. The adjusted relative risks for all variables were higher in females than males, with the exception of family history for both conditions and waist circumference for prediabetes. CONCLUSIONS: Prediabetes and diabetes are prevalent in southwestern Iran. The major determinants are older age, obesity, and the presence of hypertension. Further interventions are required to escalate diabetes prevention and diagnosis in high-risk areas across Iran.


Asunto(s)
Índice de Masa Corporal , Diabetes Mellitus Tipo 2/epidemiología , Encuestas Epidemiológicas/métodos , Hipertensión/epidemiología , Obesidad/epidemiología , Estado Prediabético/epidemiología , Adulto , Factores de Edad , Anciano , Estudios Transversales , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/diagnóstico , Femenino , Humanos , Hipertensión/sangre , Hipertensión/diagnóstico , Irán/epidemiología , Masculino , Persona de Mediana Edad , Obesidad/sangre , Obesidad/diagnóstico , Estado Prediabético/sangre , Estado Prediabético/diagnóstico , Prevalencia , Factores de Riesgo , Circunferencia de la Cintura/fisiología , Adulto Joven
11.
BMC Nephrol ; 22(1): 276, 2021 08 10.
Artículo en Inglés | MEDLINE | ID: mdl-34376157

RESUMEN

BACKGROUND: Chronic kidney disease (CKD) is a growing global health problem with faster progression in developing countries such as Iran. Here we aimed to evaluate the prevalence and determinants of CKD stage III+. METHODS: This research is part of the Khuzestan Comprehensive Health Study (KCHS), a large observational population-based cross-sectional study in which 30,041 participants aged 20 to 65 were enrolled. CKD was determined with estimated glomerular filtration rate (eGFR) less than 60 ml/min/1.73m2, based on two equations of Modification of Diet in Renal Disease (MDRD) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI). The multivariate logistic regression was used to evaluate the CKD stage III+ determinants. RESULTS: Prevalence of CKD stage III+ is estimated to be 7.1, 5.5, and 5.4% based on MDRD, CKD-EPI, and combination of both equations, respectively. More than 89% of CKD subjects aged higher than 40 years. In regression analysis, age more than 40 years had the strongest association with CKD stage III+ probability (OR: 8.23, 95% CI: 6.91-9.18). Higher wealth score, hypertension, High-Density Lipoprotein levels less than 40 mg/dl, and higher waist to hip ratio were all associated with CKD stage III+ while Arab ethnicity showed a protective effect (OR: 0.69, 95% CI: 0.57-0.78). CONCLUSION: Our findings provide detailed information on the CKD stage III+ and its determinants in the southwest region of Iran. Due to strong association between age and CKD stage III+, within a few decades we might expect a huge rise in the CKD prevalence.


Asunto(s)
Progresión de la Enfermedad , Pruebas de Función Renal , Gravedad del Paciente , Insuficiencia Renal Crónica , Factores de Edad , Estudios Transversales , Femenino , Tasa de Filtración Glomerular , Humanos , Irán/epidemiología , Pruebas de Función Renal/métodos , Pruebas de Función Renal/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Prevalencia , Pronóstico , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/fisiopatología , Factores de Riesgo , Índice de Severidad de la Enfermedad
12.
J Clin Lab Anal ; 35(2): e23637, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33098164

RESUMEN

BACKGROUND: X-linked chronic granulomatous disease (X-CGD) is an immunodeficiency disorder caused by defects in the gp91phox subunit that leads to life-threatening infections. We aimed to identify CYBB gene mutations and study clinical phenotypes in Iranian patients with probable X-CGD. METHODS: We studied four unrelated Iranian patients with probable X-CGD and their families recruited in several years. We isolated genomic DNA from whole blood and performed Sanger sequencing in the CYBB gene's coding and flanking regions. We also performed pathogenicity predictions using in silico tools. RESULTS: We detected four different mutations, including a novel insertion mutation in exon 5 (p.Ile117AsnfsX6), in the patient. Bioinformatics analysis confirmed the pathogenic effect of this mutation. We predicted protein modeling and demonstrated lost functional domains. The patient with the insertion mutation presented pneumonia and acute sinusitis during his life. We also detected three other known nonsense mutations (p.Arg157Ter, p.Arg226Ter, and p.Trp424Ter) in the CYBB gene. The patient with p.Arg157Ter developed lymphadenitis and pneumonia. Moreover, the patient with inflammatory bowel disease showed p.Arg226Ter and the patient with tuberculosis presented p.Trp424Ter. We detected different clinical features in the patients compared to other Iranian patients with the same mutations. CONCLUSION: Our results expand the genetic database of patients with X-CGD from Iran and make it much easier and faster to identify patients with X-CGD. Our results also help to detect carriers and enable prenatal diagnosis in high-risk families as a cost-effective strategy.


Asunto(s)
Enfermedad Granulomatosa Crónica/etiología , Mutación , NADPH Oxidasa 2/genética , Preescolar , Exones , Femenino , Enfermedad Granulomatosa Crónica/genética , Humanos , Enfermedades Inflamatorias del Intestino/etiología , Enfermedades Inflamatorias del Intestino/genética , Irán , Masculino , Linaje , Neumonía/etiología , Neumonía/genética
13.
Respir Res ; 20(1): 39, 2019 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-30795753

RESUMEN

BACKGROUND: Asthma is a heterogeneous disease which is usually associated with chronic airway inflammation. Saffron has anti-inflammatory effects and may has beneficial effects on asthma. HYPOTHESIS: The present study was intended to survey the effects of saffron supplementation on blood pressure, lipid profiles, basophils, eosinophils and clinical symptoms in patients with allergic asthma. STUDY DESIGN: Our study was a clinical trial. METHODS: Subjects (N = 80, 32 women and 48 men, 41.25 ± 9.87 years old) with mild and moderate allergic asthma were randomized into two groups: the intervention group who received two capsules of saffron (100 mg/d), and the control group who received two capsules of placebo for 8 weeks. SPSS software (version 16.0) was used for the data analysis. RESULTS: Saffron improved the frequency of clinical symptoms of the patients (i.e., frequency of the shortness of breath during the day and night time, use of salbutamol spray, waking up due to asthma symptoms and activity limitation) in comparison to the placebo (p < 0.001). Besides, asthma severity decreased almost significantly in the saffron group (p = 0.07). It was also found that saffron, in comparison with the placebo, significantly reduced the systolic and diastolic blood pressure, triglycerides and low density lipoprotein cholesterol. Moreover, eosinophils and basophils concentration reduced in the saffron group (p = 0.06 and 0.05 respectively). CONCLUSION: Saffron seems to be an effective and safe option (in 8 weeks supplementation) to improve clinical symptoms of patients with allergic asthma but the toxicity and/or long-term effects of saffron intake are not known. Registration ID in IRCT (IRCT2017012132081N2).


Asunto(s)
Asma/diagnóstico , Asma/tratamiento farmacológico , Crocus , Suplementos Dietéticos , Extractos Vegetales/administración & dosificación , Índice de Severidad de la Enfermedad , Administración Oral , Adolescente , Adulto , Anciano , Asma/sangre , Cápsulas , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Extractos Vegetales/aislamiento & purificación , Adulto Joven
14.
J Clin Immunol ; 38(7): 816-832, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30302726

RESUMEN

BACKGROUND: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders. METHOD: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing. RESULTS: Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort. CONCLUSIONS: During a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.


Asunto(s)
Síndromes de Inmunodeficiencia/epidemiología , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Susceptibilidad a Enfermedades , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Geografía Médica , Humanos , Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/etiología , Lactante , Recién Nacido , Irán/epidemiología , Masculino , Persona de Mediana Edad , Técnicas de Diagnóstico Molecular , Vigilancia de la Población , Prevalencia , Sistema de Registros , Adulto Joven
17.
Sci Rep ; 14(1): 842, 2024 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-38191604

RESUMEN

Allergic diseases are prevalent chronic conditions among children and can lead to significant health and economic issues. It is hypothesized that healthy and high quality diet during pregnancy can prevent the onset of allergic diseases in offspring. This study aimed to investigate the potential relationship between major dietary patterns during pregnancy and allergies in children under one year of age. This case-control study was conducted involving 244 participants (122 mothers of allergic children and 122 healthy controls) who visited pediatricians and allergy outpatient clinics in Khuzestan Province, Iran, between June 2022 and March 2023. Demographic information was recorded using a socio-demographic questionnaire. A food frequency questionnaire was used to identify the foods consumed during pregnancy. Major dietary patterns were extracted using principal component analysis, and the potential relationship between these patterns and childhood allergies was investigated using multivariable logistic regression models. The crude odds ratio (OR) analysis showed that the fourth quartile of "Nut, vegetables, fruits, and protein" dietary pattern was associated with lower occurrence of childhood allergies (OR: 0.214, 95% CI = 0.068-0.679; P trend = 0.211). After adjusting for cofactors in Model 3, this association was still observed in the fourth quartile (OR = 0.108, 95% CI = 0.019-0.613; P trend, 0.001). However, no significant association was observed between "Carbohydrate and cereals" and "Salty" dietary patterns and childhood allergies. The study findings suggest that a maternal dietary pattern rich in nuts, vegetables, and fruits during pregnancy may reduce the risk of allergic diseases in offspring.


Asunto(s)
Frutas , Hipersensibilidad , Niño , Femenino , Embarazo , Humanos , Nueces , Verduras , Patrones Dietéticos , Estudios de Casos y Controles , Dieta , Hipersensibilidad/epidemiología , Hipersensibilidad/etiología , Madres
18.
Iran J Allergy Asthma Immunol ; 23(1): 115-121, 2024 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-38485906

RESUMEN

Sanjad Sakati Syndrome (SSS) is categorized as a neuroendocrine-related disease due to disorders of the nervous and hormonal systems. Since hormonal changes in these patients may affect the nature and function of the immune system. Thus, in this study, cell count and phagocytotic function of neutrophils were evaluated which may be influenced by changes in the hormonal rate and growth factors. In this study, the neutrophil count value and the oxidative burst were evaluated in six patients diagnosed with SSS and six healthy individuals. There was a significant reduction in the neutrophil count observed in SSS patients compared to healthy controls (37.41±7.93 percent vs. 66.5±6.8 percent). However, there was no significant difference in neutrophil oxidative index between patients with SSS and control subjects (172.33±55.08 vs. 217.00±77.38). We concluded that in patients with SSS, the phagocytic activity of neutrophils was not affected by hormonal changes, while the number of neutrophils and neutrophil-to-lymphocyte ratio (NLR) index were decreased.


Asunto(s)
Anomalías Múltiples , Acrocefalosindactilia , Trastornos del Crecimiento , Hipoparatiroidismo , Discapacidad Intelectual , Neutrófilos , Osteocondrodisplasias , Convulsiones , Humanos , Neutrófilos/fisiología , Estallido Respiratorio , Discapacidad Intelectual/diagnóstico , Recuento de Leucocitos , Recuento de Linfocitos
19.
J Interferon Cytokine Res ; 44(7): 316-324, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38738802

RESUMEN

As an antibody-based therapy, plasma therapy has been used as an emergency therapeutic strategy against severe acute respiratory syndrome coronavirus type 2 infection. Due to the critical role of macrophages in coronavirus disease-19 (COVID-19)-associated hyperinflammation, the main objective of this study was to assess the effect of plasma transfusion on the expression levels of the inflammatory biomarkers involved in activation and pulmonary infiltration of macrophages. The target population included 50 severe hospitalized COVID-19 patients who were randomly assigned into 2 groups, including intervention and control. Serum levels of chemokine (C-C motif) ligand (CCL)-2, CCL-3, tumor necrosis factor (TNF)-α, and interleukin (IL)-6 were measured by enzyme-linked immunosorbent assay. Moreover, quantitative real-time polymerase chain reaction (PCR) was carried out to assess the relative expression of nuclear factor (NF)-κB1, NF-κB2, nuclear factor erythroid 2 p45-related factor 2 (NRF-2), and thioredoxin-interacting protein genes. Sampling was done at baseline and 72 h after receiving plasma. The intervention group demonstrated significantly lower serum levels of IL-6, TNF-α, and CCL-3. In addition, real-time PCR data analyses showed that the relative expression of NF-κB2 was significantly declined in the patients who received plasma. The use of convalescent plasma probably has a significant inhibitory effect on the cytokines, chemokines, and inflammatory genes related to macrophage activation, which are closely associated with the worsening of clinical outcomes in severe COVID-19.


Asunto(s)
Biomarcadores , Sueroterapia para COVID-19 , COVID-19 , Inmunización Pasiva , Macrófagos , SARS-CoV-2 , Humanos , COVID-19/terapia , COVID-19/sangre , COVID-19/inmunología , Masculino , Persona de Mediana Edad , Femenino , Biomarcadores/sangre , Macrófagos/inmunología , Macrófagos/metabolismo , SARS-CoV-2/inmunología , Adulto , Inflamación/sangre , Inflamación/terapia , Inflamación/inmunología , Anciano , Citocinas/sangre , Índice de Severidad de la Enfermedad
20.
Heliyon ; 10(7): e28528, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38590857

RESUMEN

Background: Severe acute respiratory syndrome coronavirus 2 was first reported in December 2019 and it has spread globally ever since. The HLA system is crucial in directing anti-viral immunity and recent studies are investigating the possible involvement of the HLA genes on the severity of immune inflammation in different phases of COVID-19. Methods: In this cross-sectional study, peripheral blood-extracted genomic DNAs of 109 COVID-19 patients and 70 healthy controls were genotyped for different alleles of HLA-A, HLA-B, and HLA-DRB1 loci using sequence-specific primer PCR method. Results: The results indicated that frequencies of HLA-DRB1*11:01 and HLA-DRB1*04:03 were significantly higher in severe patients rather than moderates (p: <0.001 and 0.004, respectively). Also, it was observed that HLA-DRB1*04:01 was more frequent in moderate patients and healthy controls (p:0.002). In addition, HLA-B*07:35, and HLA-DRB1*07:01 showed higher frequencies in patients compared with controls (p: 0.031 and 0.003 respectively). Inversely, due to the higher frequencies of HLA-B*51:01 (p:0.027), HLA-DRB1*11:05 (p:0.003), HLA-DRB1*13:05 (p:0.022), and HLA-DRB1*14:01 (p:0.006) in healthy individuals rather than patients, they may be associated with COVID-19 resistance. Conclusion: The results show that, based on the population differences, the type of alleles related to the severity of COVID-19 is different, which should be clarified by designing large-scale studies in order to develop HLA-based treatments and vaccines.

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