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1.
Artigo em Inglês | MEDLINE | ID: mdl-38434225

RESUMO

Background: Anaphylaxis is an allergic reaction which occurs with or without the stimulation of the immune system. Hymenoptera stings are common causes of anaphylaxis in the world. Skin tests are the first-line diagnostic measure for Hymenoptera anaphylaxis. The present study aimed to evaluate the safety of a single-step approach in sensitization testing for Hymenoptera venom. Methods: This cross-sectional study was conducted in 2019 in Golestan province the north of Iran. The sample population consisted of 140,000 individuals covered by 84 rural healthcare centers in the vicinity of Gorgan, Iran. Thirty-three patients agreed to receive the diagnostic test. In this research, in contrast to the 2011 ACAAI guideline, the extracts of venom of three types of Hymenoptera were injected intra-dermally without any dilution at the concentration of 1 µg/ml. Results: The results of the skin test in the patients bitten by honey bee, yellow jacket, and paper wasp were negative in 15.2%, 15.2%, and 21.2% of the cases, respectively. After the test, no allergic reaction was observed, with the exception of a minor skin reaction, which improved within a short time. These preventive measures were taken during the test for the following four hours when the patient was present at the test site and up to 48 hours afterward via follow-up from the healthcare center to the home of the patient. Conclusion: The results of our study showed that the non-diluted single injection of the Hymenoptera sting was accompanied by no side effects.

2.
BMC Gastroenterol ; 22(1): 4, 2022 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-34983394

RESUMO

BACKGROUND: Among different common types of cancer, gastric cancer (GC) is a worldwide health priority in both developing and developed countries. The aim of this study was to map the distribution of incident cases of GC in Iran to provide a geographical presentation of the incidence of the disease. METHODS: This study used the Iranian National Cancer Registry (INCR) data from 2004 to 2014. We calculated the crude and age-standardized incidence rates of GC for each province and also defined the frequency distribution of different types and locations of GC by the provinces. RESULTS: According to the results of the present study, the patients were predominantly male 49,907 (70.0%) and the most prevalent type of tumour was A1 (almost 96.4%) and C3| (2.0%). Also, a significant difference was observed between males and females in the distribution of the types of tumour (P < 0.001). In addition, a comparison of the distribution of the types of GC in Iran suggested that a significant difference exists between the provinces (P < 0.001). A significant difference was observed when the distribution of the location of GC tumors was compared between males and females and provinces (P < 0.001). Accordingly, pylori and cardia are the most common location of GC cancer among the study population (28.1% and 31.3% respectively). CONCLUSIONS: The results of the current study suggested a higher rate of GC incidence in Iran when compared to the global figure in both females and males. Our study also revealed significant disparities between provinces with regard to the distribution of types, and location of GC. This may suggest involving different factors in GC in different parts of Iran. Further studies are needed to better understand the epidemiology and etiology of the disease in Iran.


Assuntos
Neoplasias Gástricas , Cárdia , Feminino , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Masculino , Sistema de Registros , Neoplasias Gástricas/epidemiologia
3.
BMC Endocr Disord ; 22(1): 100, 2022 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-35418054

RESUMO

BACKGROUND: Several studies have assessed the relationship between type 2 diabetes (T2D) and tooth loss; however, results have been inconsistent. Therefore, the present systematic review and meta-analysis of observational studies was designed to examine the association between T2D and tooth loss. METHODS: This systematic review and meta-analysis was conducted based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Guideline. We searched all the relevant studies in international databases of Scopus, PubMed, ProQuest, Web of Science, Cochrane Library, and Google scholar search engine until February 2022. The heterogeneity of the studies was calculated using the I2 index. Measure of effect and 95% confidence interval (CI) were extracted from each study. The results of the study were analyzed using the random effects model. RESULTS: In the present study, 22 eligible studies were included. Meta-analysis of unadjusted and adjusted results showed that T2D significantly increased the risk of tooth loss, and Odds Ratio (OR) unadjusted was 1.87 (95% CI: 1.62-2.13, p < 0.001), and OR adjusted was 1.20 (95% CI: 1.10-1.30, p < 0.001), respectively. Subgroup analysis based on study design for adjusted OR indicated that in the cohort study (OR: 1.29, 95% CI: 1.07-1.51), in the cross-sectional study (OR: 1.15, 95% CI: 1.06-1.23), and in the case-control study (OR: 5.10, 95% CI: 1.01-9.18) there was a significant association between T2D and tooth loss. Other subgroups analyses showed consistent results and no publication bias existed. CONCLUSIONS: The findings suggest that T2D is associated with increased risk of tooth loss. This conclusion may provide useful evidence for correlated clinical researches.


Assuntos
Diabetes Mellitus Tipo 2 , Perda de Dente , Estudos de Casos e Controles , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Humanos , Perda de Dente/epidemiologia , Perda de Dente/etiologia
4.
BMC Nephrol ; 23(1): 24, 2022 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-35012483

RESUMO

BACKGROUND: Chronic kidney disease (CKD) is a non-communicable disease that includes a range of different physiological disorders that are associated with abnormal renal function and progressive decline in glomerular filtration rate (GFR). This study aimed to investigate the associations of several behavioral and health-related factors with CKD in Iranian patients. METHODS: A hospital-based case-control study was conducted on 700 participants (350 cases and 350 controls). Logistic regression was applied to measure the association between the selected factors and CKD. RESULTS: The mean age of cases and controls were 59.6 ± 12.4 and 58.9 ± 12.2 respectively (p = 0.827). The results of multiple logistic regression suggested that many factors including low birth weight (OR yes/no = 4.07, 95%CI: 1.76-9.37, P = 0.001), history of diabetes (OR yes/no = 3.57, 95%CI: 2.36-5.40, P = 0.001), history of kidney diseases (OR yes/no = 3.35, 95%CI: 2.21-5.00, P = 0.001) and history of chemotherapy (OR yes/no = 2.18, 95%CI: 1.12-4.23, P = 0.02) are associated with the risk of CKD. CONCLUSIONS: The present study covered a large number of potential risk/ preventive factors altogether. The results highlighted the importance of collaborative monitoring of kidney function among patients with the above conditions.


Assuntos
Insuficiência Renal Crônica/etiologia , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Adulto Jovem
5.
BMC Public Health ; 22(1): 1549, 2022 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-35971079

RESUMO

BACKGROUND: Given that COVID-19 continues to spread worldwide, attempts to restrain the virus and to prevent the effects that critically ill patients with COVID-19 have on healthcare systems, has become a public health priority. This ecological study aimed to investigate the correlation between the Human Development Index (HDI) and the epidemiological indicators of COVID-19, including the cumulative incidence rate of cases, the cumulative incidence rate of death, performed COVID-19 tests per million, recovery rate, and case fatality rate. METHODS: In this ecological study, a data set was provided, which included the epidemiologic indices of COVID-19, HDI, and its components for each country. Correlation coefficients were used to determine linear correlation. Also, the scatter plots of the HDI for the studied countries based on the epidemiologic indices of COVID-19 were drawn. RESULTS: This study showed that HDI and its components had positive correlation with a cumulative incidence rate of cases, the cumulative incidence rate of death, and performed COVID-19 tests (p < 0.001). HDI and two of its components, including literacy and Gross National Income (GNI) components had negative correlation with case fatality rate (CFR). Also, HDI and two of its components, including literacy and life expectancy components had negative correlation with recovery rate. CONCLUSION: Our study showed that the HDI and its components can affect the epidemiological status of COVID-19. As HDI increased, the cumulative incidence rate of cases, cumulative incidence rate of death, and COVID-19 tests increased as well. As HDI increased, CFR and recovery rate decreased as well. Although the HDI is higher in high-income countries, these countries may have also better reporting and surveillance systems.


Assuntos
COVID-19 , COVID-19/epidemiologia , Saúde Global , Humanos , Incidência , Renda , Expectativa de Vida , Pesquisa
6.
BMC Pediatr ; 22(1): 503, 2022 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-36002803

RESUMO

BACKGROUND: This study is a systematic review and meta-analysis on published studies about the Global Survival Rate of Graft and Patients in the Kidney Transplantation of children. METHODS: Studies that investigated the survival rate of kidney transplants published until the 30th of December 2020 were selected using a systematic search strategy in the following databases: Medline, Embase, Scopus, ProQuest, ISI Web of Science, and Cochrane. The extracted data were entered into the Excel software and STATA 16.0. The search identified 6007 study references. From the total, we excluded 1348 duplicates, 3688 reference titles and abstracts that were deemed irrelevant, and 846 references that were not original articles (i.e., letter, commentary, review) or did not meet the inclusion criteria. As such, 89 studies involving 12,330 participants were included in this meta-analysis. RESULTS: In this study 1, 3, 5, 7 and 10-year survival rates of graft were estimated to be 92, 83, 74.40, 67.10, and 63.50%, respectively. Also, 1, 3, 5, 7 and 10-year survival rates of patients were estimated to be 99.60, 97.30, 95.20, 74.60, and 97.90%, respectively. CONCLUSIONS: The findings suggest differences in graft and patient survival among children with kidney transplants. Although differences in ethnic origin, incompatibility with deceased donor kidneys, and types of kidney disease are unavoidable, interventions to improve preventive and living-donor transplantation are particularly needed in minority groups. In addition, more research is needed to establish and address the contribution of medical and sociocultural barriers to preferential treatment of these groups.


Assuntos
Nefropatias , Transplante de Rim , Criança , Humanos , Doadores Vivos , Grupos Minoritários , Taxa de Sobrevida
7.
Pediatr Surg Int ; 38(9): 1177-1186, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35870002

RESUMO

Liver transplantation is a life-saving treatment for children who are in liver failure. The survival rate index is used to assess the success rate of liver transplantation. The study aimed to assess the survival rate of liver transplantation in children. We searched 5 international databases in this study, including Medline/PubMed, ProQuest, Scopus, Web of Knowledge, and Google Scholar, for published articles by the end of 2020. Also, meta-regression analysis was performed based on the year of the study, and subgroup analysis was performed according to continents. A total of 425 titles were reviewed. Based on the results, 96 articles were entered in the meta-analysis. Established on the random-effect model, the survival rates of 1, 3, 5, and 10 years of transplantation were 86.62%, 77.74%, 73.95%, and 68.60%, respectively. Also, based on the meta-regression results, there was a relationship between the year of the study and the survival rate, as the study year gets more recent, the survival rate is increased. This study can provide documented and comprehensive evidence which can be the basis of many policies and decisions in various sectors of health development, including evaluating treatment options and health interventions in transplantation.


Assuntos
Falência Hepática , Transplante de Fígado , Criança , Humanos , Transplante de Fígado/métodos , Taxa de Sobrevida
8.
Med J Islam Repub Iran ; 35: 116, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34956962

RESUMO

Background: COVID-19 spread rapidly throughout the world and affected many people. The purpose of this study was to investigate the epidemiological characteristics of patients with COVID-19 in southwest of Iran from February 19 to June 20, 2020. Methods: In this retrospective study, the epidemiological characteristics of 7313 patients with COVID-19 in southwest of Iran were analyzed and reported from February 19, 2020, to the end of Jun,2020. Data were extracted from electronic records in hospitals. Sex ratio and mortality rate of the disease were calculated. A multiple logistic regression analysis was used to evaluate the factors affecting mortality. Results: From all patients studied, 3920 (53.5%) were men and 2066 (28.24%) were in the age 30 to 40 years age group. The case fatality rate of the disease based on the total number of patients (hospitalized and nonhospitalized) was 4.84%. The highest mortality rate was seen in patients with various cancers and in those aged over 80 years. The most common symptoms in patients were fever and cough, diabetes, hypertension, and cardiovascular diseases. Logistic regression results also showed that the chances of death in the 70-60 and 80-70 years age group were 5.94 (OR, 5.94; 95% CI, 2.14-16.43) and 8.63 (OR, 8.63, 95% CI, 3.09-24.14) compared to 10-20 years age group. Conclusion: These results indicate the need to increase primary care, provide the necessary equipment to treat patients, and more importantly, early identification of patients and treatment for them.

9.
Cancer Control ; 27(1): 1073274820964146, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33074714

RESUMO

Colorectal cancer (CRC) is the second most common cause of cancer-related deaths worldwide. Survival rates are among the most important factors in quality control and assessment of treatment protocols. This study was aimed to assess the survival rate of colorectal cancer in Eastern Mediterranean Region Countries. In the present study we comprehensively searched 6 international databases including PubMed/Medline, ProQuest, Scopus, Embase, Web of Knowledge and Google Scholar for published articles until November 2018. The Newcastle-Ottawa Quality Assessment Form for Cohort Studies was applied to evaluate the quality of included studies. The heterogeneity of papers was assessed with the Cochran Test and I-Square statistics. Meta-regression test was performed based on publication year, sample size and Human Development Index (HDI) of each study. Among the total of 1023 titles found in the systematic search, 43 studies were eligible to be included in the present meta-analysis. According to the results, the 1-year, 3-year and 5-year survival rate of patients with Colorectal Cancer was 88.07% (95% CI, 83.22-92.92), 70.67% (95% CI, 66.40-74.93) and, 57.26% (95% CI, 50.43-64.10); respectively. Furthermore, Meta-regressions did not show significant correlations between survival rate and year, sample size or Human Development Index. Survival rates, especially the 5-year survival rate in the EMRO were less than European countries and the USA. Documented and comprehensive evidence-based findings of the present meta-analysis can be used to enhance policies and outcomes of different medical areas including prophylaxis, treatment and health related objectives in colorectal cancer.


Assuntos
Neoplasias Colorretais/mortalidade , Detecção Precoce de Câncer/métodos , Estudos de Coortes , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/patologia , Humanos , Região do Mediterrâneo/epidemiologia , Prognóstico , Taxa de Sobrevida
10.
Sci Rep ; 14(1): 1635, 2024 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-38238365

RESUMO

One of the factors that can affect the quality of life is the psychological status of people. Also, the psychological status of individuals can be affected by other variables. Therefore, this study was aimed to determine the role of diabetes health literacy, psychological status, self-care behaviors, and life satisfaction in predicting the quality of life in Iranian patients with type 2 diabetes. This cross-sectional study was conducted in Iran in 2021 among 300 patients with type 2 diabetes. The method of selecting the participants in this study was the proportional stratified sampling method. Data collection instruments included six questionnaires of demographic questionnaire and diabetes status, DASS-21 questionnaire (depression, anxiety, and stress), diabetes health literacy scale, self-care behavior questionnaire, satisfaction with life scale (SWLS), and quality of life questionnaire. Statistical methods such as independent sample t test, one-way analysis of variance, linear regression test, and Pearson correlation were used to analyze the data. Based on the results of Pearson correlation test, there was a positive and significant correlation between diabetes health literacy (r = 0.438, p < 0.001), depression (r = - 0.380, p < 0.001), anxiety (r = - 0.355, p < 0.001), stress (r = - 0.423, p < 0.001), and SWLS (r = 0.265, p < 0.001) with quality of life. Based on the results of linear regression, variables of diabetes health literacy, life satisfaction, self -care behaviors, depression, stress, anxiety, age of onset of diabetes and diabetes duration were able to predict 31% of the quality of life (p < 0.001). The results of this study indicated that diabetes health literacy, life satisfaction, stress and the duration of diabetes are able to predict the quality of life of patients with diabetes. Therefore, it is necessary to pay more attention to these effective variables training programs, especially health literacy, the effect of which is very obvious in this study.


Assuntos
Diabetes Mellitus Tipo 2 , Letramento em Saúde , Humanos , Diabetes Mellitus Tipo 2/terapia , Diabetes Mellitus Tipo 2/psicologia , Qualidade de Vida , Estudos Transversais , Autocuidado , Irã (Geográfico)/epidemiologia , Satisfação Pessoal
11.
Ann Med Surg (Lond) ; 86(6): 3624-3626, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38846906

RESUMO

Introduction and importance: Alpha-Gal syndrome (AGS), a distinct form of mammalian meat allergy, presents unique characteristics that set it apart from typical IgE-mediated food hypersensitivities. AGS induces an allergic response typically 3-6 h post-ingestion of mammalian meat, such as beef, pork, or lamb. This prolonged reaction time differentiates AGS from other food allergies, which usually provoke a more immediate response. Case presentation: The authors present a case of a 35-year-old male patient who, unbeknownst to him, had been experiencing symptoms consistent with Alpha-Gal allergy for several years. His symptoms only subsided upon the complete elimination of mammalian meat from his diet. It was only then that the possibility of AGS was considered. Complete abstinence from mammalian meat, meat by-products, and other α-Gal containing foods is the most effective preventative strategy for AGS. No definitive cure for AGS has been established as of now. Treatment protocols for hypersensitivity reactions are contingent upon the severity of the reaction, with therapies ranging from antihistamine medications to the administration of epinephrine. Conclusion: There is considerable variability among AGS patients concerning the consumption of dairy products. Some individuals with AGS can safely consume dairy products without any adverse reactions, while others are advised to abstain due to potential allergenic responses. This variability in dairy tolerance among AGS patients warrants further investigation.

12.
Ann Med Surg (Lond) ; 86(2): 1048-1051, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38333279

RESUMO

Introduction and importance: PERCHING syndrome is a condition that affects many parts of the body and is caused by genes passed down from both parents. People with this syndrome have delays in their development, unusual facial features, trouble eating and breathing, slow overall growth, weak muscles, and stiff joints. Case presentation: The child at the age of 6 months suffered from developmental delay, delayed walking, speech delay, and hypotonia and was referred to the Neurologist. Also, he has an abnormal phenotype. Whole-exome sequencing (WES) revealed a missense variant in the KLHL7 gene at a highly conserved genomic Chr7: 23124718T>G; NM_018846:exon3:c.110T>G:p.Val37Gly. Clinical discussion: One way to explain the difference in physical characteristics caused by recessive KLHL7 mutations might be related to the person's genetic makeup. However, the genes someone has do not always accurately determine their physical traits. Conclusion: This report will help us learn more about the different traits and characteristics of Perching syndrome. The authors need to do more research on how proteins work and study more about patients with different characteristics to fully understand this.

13.
Ann Med Surg (Lond) ; 86(6): 3674-3678, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38846884

RESUMO

Introduction and importance: The herpes simplex virus (HSV) is the most common cause of acute sporadic encephalitis, a severe and often fatal disease in humans. It is associated with high mortality and morbidity rates in untreated patients. Case presentation: An 11-month-old child was admitted to the hospital presenting with acute fever and seizures characterized by staring episodes and spastic movements affecting the left side of the body. Diagnostic workup revealed abnormal T2 flair hyperintense foci in bi-temporoparietal lobes and right thalamus, and bilateral otomastoiditis were detected. A positive result for HSV-1 was obtained through HSV type 1/2 polymerase chain reaction (PCR) testing, leading to a diagnosis of herpes encephalitis. Clinical discussion: While acyclovir has proven to be an effective therapeutic option, mortality and neurological sequelae continue to be reported in a notable fraction of patients. HSV encephalitis is mainly caused by two strains of the herpes simplex virus: HSV-1, more frequently observed in children and adults, and HSV-2, commonly seen in neonates and those with compromised immune systems. MRI scans often reveal that the brain lesions are localized to certain areas, although temporal involvement may not always be evident. The symptoms of herpetic encephalitis can greatly vary, making early diagnosis and treatment vital for improving patient outcomes. Conclusion: This case report highlights the clinical presentation, diagnostic challenges, and treatment strategies for HSV-1 encephalitis and underscores the importance of early recognition and prompt initiation of antiviral therapy in suspected cases of HSV-1 encephalitis.

14.
Prim Care Diabetes ; 18(3): 277-283, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38616441

RESUMO

Studies have shown that fasting during Ramadan has different effects on circulating levels of several biochemical markers. This study aims to conduct a comprehensive evaluation of studies related to the effect of fasting in the holy month of Ramadan on lipid profile, uric acid, and HbA1c in CKD patients. Studies were systematically searched and collected from three databases (PubMed, Scopus, and Web of Science). After screening, the quality and risk of bias assessment of the selected articles were evaluated. Study heterogeneity was assessed using the Cochrane test and I² statistic. In case of any heterogeneity random effects model with the inverse-variance method was applied. All analyses were performed using STATA software version 16. Four observational studies were included in this study. The results of this meta-analysis were that cholesterol (Weighted mean differences (WMD):0.21 with 95% CI:-0.09-0.51 (P-value=:0.18)), LDL (WMD:0.06 with 95% CI -0.24-0.36 (P-value:0.69)), triglyceride (WMD:0.05 with 95% CI:-0.25-0.35 (P-value:0.73)) had not-significant increase. Uric acid (WMD: -0.11 with 95% CI: -0.42-0.21 (P-value:0.51)) and HbA1c (WMD: -0.22 with 95% CI: -0.79-0.36 (P-value: 0.46)) show a non-significant decrease. The results of the analyses did not report significant changes in the lipid profile, uric acid, and HbA1c in CKD patients after Ramadan fasting.


Assuntos
Biomarcadores , Jejum , Hemoglobinas Glicadas , Islamismo , Lipídeos , Insuficiência Renal Crônica , Ácido Úrico , Humanos , Ácido Úrico/sangue , Jejum/sangue , Hemoglobinas Glicadas/metabolismo , Biomarcadores/sangue , Insuficiência Renal Crônica/sangue , Insuficiência Renal Crônica/terapia , Insuficiência Renal Crônica/diagnóstico , Lipídeos/sangue , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Fatores de Tempo , Religião e Medicina , Glicemia/metabolismo , Dislipidemias/sangue , Dislipidemias/diagnóstico
15.
Ann Med Surg (Lond) ; 86(3): 1622-1630, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38463059

RESUMO

Objective: This study aims to investigate the factors affecting the severity of trauma caused by traffic accidents based on martrix Haddon; a systematic review and meta-analysis. Methods: In this study searched five international databases in this study, including Medline/PubMed, ProQuest, Scopus, Web of Knowledge, and Google Scholar, for published articles by the end of 2022. Data were entered into the statistical program and analyses were performed using STATA 17.0 software. Odds ratio (OR) values were computed for severity accidents. Results: Results of study showed that among the risk factors related to the host, not using helmet increased the risk of injury severity by 3.44 times compared to people who have used helmets (OR Not using helmet/Using helmet = 3.44, 95% CI: 2.27-5.00, P=0.001, I2=0.00%). Also, crossing over a centre divider has a protective role for the risk of injury severity compared to undertaking (OR crossing over a centre divider/undertaking=0.39, 95% CI: 0.20-0.75, P=0.01, I2=25.79%). in terms of the type of accident, accident of car-car reduces the risk of injury severity by 23% compared to accident of car-pedestrian (OR accident of car-car/accident of car-pedestrian=0.77, 95% CI: 0.61-0.96, P=0.02, I2=0.00%). Conclusions: It is necessary to pay attention to the intersection of human, vehicle and environmental risks and their contribution and how they interact. Based on the Haddon matrix approach, special strategies can be designed to prevent road damage. Safety standards for vehicles should also be addressed through stricter legal requirements and inspections.

16.
Ann Med Surg (Lond) ; 85(5): 2177-2179, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37228935

RESUMO

Hypomyelinating leukodystrophies are a heterogeneous group of inherited white matter disorders characterized by a predominant absence of myelin deposits in the central nervous system. Case presentation: The patient was a one-year-old girl child. She at the age of 6 months was hospitalized due to loose, muscle weakness, and an upward gaze for 7-8 min with complaints of fever and convulsions. Clinical discussion: Using the test of whole exome sequencing, a nonsense homozygous mutation was found in the PYCR2 gene, which a mutation in the PYCR2 gene causes hypomyelinating leukodystrophy type 10 disease. Conclusion: Advances in the field of genetics, increased awareness, and the increasing availability of genetic testing in small cities in developing countries are helping to better assess complex neurological disorders and establish a complete diagnosis.

17.
Ann Med Surg (Lond) ; 85(5): 2049-2051, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37229023

RESUMO

Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 (FLAD1) deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction. Case presentation: At the age of 3, the patient was found to have movement problems, such as difficulty rising from a chair (Gower's sign) and climbing stairs, which led to hospital admission and diagnosis. At the age of 4, carrier detection for spinal muscular atrophy was normal; however, at the age of 5, whole-exome sequencing revealed a pathogenic variant of Chr1: 154960762: A>T c.A554T:p.D185V in exon-2 of FLAD1 gene was identified as homozygous. Clinical discussion: In general, it is expected that the treatment of type 2 FLAD1 gene mutation with riboflavin has a better prognosis, but these interventions may not be sufficient for the survival of the patient. Treatment with riboflavin has increased various functions, including skeletal-muscular, and cardiovascular function. As a result, like the patient in our study, the mutation in exon-2 is more severe and less responsive to riboflavin treatment. Conclusion: Checking the FLAD1 gene is recommended in all people with multiple acyl-CoA dehydrogenase deficiency.

18.
J Diabetes Metab Disord ; : 1-9, 2023 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-37363200

RESUMO

Objective: This study aimed at examining the psychometric properties of Persian version of Multidimensional Health Locus of Control scale, form C (MHLC-C) among Iranian type 2 diabetes. Method: This cross sectional study was conducted on 557 type 2 diabetes in eastern city of Iran in 2022. Participants were selected by proportional stratified sampling. The validity of MHLC-C was tested by face validity, content validity, exploratory factor analysis (EFA), and confirmatory factor analysis (CFA).Reliability of MHLC-C was assessed by McDonald omega coefficient, Cronbach's alpha coefficient, and Intraclass Correlation Coefficient. Results: Based on the results of EFA, 4 factors with eigenvalues greater than 1 were extracted, which explained 61.66% of the variance. In EFA, a question was removed. In CFA, the factor loading of all questions was more than 0.4 and the indexes of the goodness-of-fit were acceptable (for example: X2/df = 4.457, RMSEA: 0.079, CFI = 0.904, and PGFI = 0.663). McDonald omega coefficient and Cronbach's alpha coefficient of MHLC-C were 0.869 and 0.866. The Intraclass Correlation Coefficient of MHLC-C was 0.817. Finally, the MHLC-C with 17 questions and 4 factors of chance (6 items), internal (5 items), other powerful people (3 items), and doctors (3 items) was approved. Conclusions: The Persian version of the MHLC-C questionnaire, with 17 questions and four factors, is a valid and reliable scale for Iranian type 2 diabetes to assess their health locus of control status.

19.
Sci Rep ; 13(1): 6146, 2023 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-37061544

RESUMO

This study aimed to evaluate the effect of short-term exposure to heavy metals (HM) extracted from PM10 on CB in workers' population in an outdoor space located in southern Iran during a dust storm. At first, 44 healthy and non-smoking workers were selected. Then PM10 and Blood samples were collected before and after the dust storm. Finally, HMs associated with PM10 measured by ICP-MS and its effect on the CB, including fibrinogen, CRP, TNF-α, and BP were estimated by ANOVA, Pearson correlation, and Odd Ratio (OR) in SPSS23. Based on the results, the concentration of PM10 and extracted HM such as Cr, As, and Cd was higher than the WHO/EPA standards in dust storms they increased the CB and BP remarkably. Moreover, the level of fibrinogen, blood pressure (BP) and TNF-α in dust storms were higher than in normal conditions (p < 0.05, OR > 3). In addition, As and Cd decreased fibrinogen concentration and systolic BP, respectively. Whereas, TNF-α was associated with concentration of Pb (R = - 0.85) on normal days. Consequently, the HM on PM10 such as As, interferes with the level of investigated CB. These results considered a potential risk for the residents in the southern regions of Iran.


Assuntos
Poluentes Atmosféricos , Sistema Cardiovascular , Metais Pesados , Humanos , Poeira/análise , Poluentes Atmosféricos/efeitos adversos , Poluentes Atmosféricos/análise , Cádmio/toxicidade , Fator de Necrose Tumoral alfa , Monitoramento Ambiental , Metais Pesados/toxicidade , Metais Pesados/análise , Biomarcadores , Medição de Risco , Cidades
20.
Ann Med Surg (Lond) ; 85(8): 4087-4091, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37554904

RESUMO

Vanishing white matter (VWM) is a neurological disorder that has an autosomal recessive mode of inheritance. VWM is caused due to a mutation in in any of the five genes of eukaryotic translation initiation factor 2B (eIF2B). The etiology is unknown. Case presentation: The authors report two cases of VWM disease. In the first case, an 8-month-old female child, brought to the pediatric clinic with seizure and loss of consciousness. The second case was a 24-month-old girl, presented with weakness, a disability to walk and swallow, and poor feeding. Her brain MRI demonstrated cystic changes (white matter rarefaction) in supratentorial peri-ventricular white matter and genetic testing result showed an EIF2B3 gene mutation. Clinical discussion: Leukoencephalopathy with VWM, also known as Cree encephalopathy is caused by mutations in the EIF2B gene. The disease is inherited in an autosomal recessive fashion. There are various agents leading to symptoms and signs of VWM disease. Physical stress like head trauma even in a mild degree, infections, and febrile diseases can be mentioned as causes of VWM. The eIF2B complex, plays a role as an important factor in the regulation of protein synthesis in cells under different conditions. Conclusion: As a conclusion, genetic counseling could be recommended to all individuals with VWM disease and their family members for next pregnancies and possible precautions for consanguineous marriages.

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