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1.
Infection ; 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38594573

RESUMO

PURPOSE: The prevalence of obesity is an escalating concern in modern populations, predominantly attributed to the widespread adoption of sedentary lifestyles observed globally. Extensive research has established a significant association between obesity and Helicobacter pylori (H. pylori). Nonetheless, a comprehensive assessment of the global prevalence of H. pylori among individuals with obesity remains undetermined. METHODS: A systematic search strategy was applied to PubMed, Scopus, and Web of Science. The resulting records were screened using the Rayyan online tool for the management of systematic reviews. Freeman-Tukey double arcsine transformation was used. Subgroup analyses (continent, regional classifications, developmental status, religion, global hemisphere, income, access to international waters, and H. pylori eradication) and multivariate meta-regression (latitude, longitude, male-to-all ratio, mean age, and body mass index) were done to estimate the effects of the moderators. Risk of bias assessment was done using JBI checklist for prevalence studies. RESULTS: A total of 472,511 individuals with obesity from 208 studies were included. The global estimation of H. pylori prevalence among individuals with obesity was 32.3% (95% CI 26.9%, 38.0%). South America had the highest prevalence. Based on the different classifications of countries, resource-rich, low-/middle-income, developing, and Islamic countries had the highest prevalence. Lower pooled prevalence was observed in the studies with adequate sample sizes (n ≥ 270). CONCLUSION: The findings have the potential to influence future health policies for preventing and treating H. pylori infection. However, there is variability among the included studies, indicating the need for more population-based research.

2.
Health Sci Rep ; 7(2): e1909, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38361808

RESUMO

Background and Aims: Obesity is considered a major growing threat to public health which could negatively affect the quality of life. The current cross-sectional study was conducted to investigate the population-based prevalence of metabolically healthy obesity (MHO) and healthy overweight (MHOW) and associated factors in southern Iran. Methods: Baseline data from the Pars Cohort Study was analyzed. Metabolically healthy participants were identified based on the definition of the American Heart Association for the metabolic syndrome. The prevalence of MHOW and MHO and their 95% confidence intervals were estimated. Poisson regression was applied for the calculation of prevalence ratios (PRs). Results: Gender- and age-standardized prevalences of MHOW and MHO were 6.3% (6.0%-6.6%) and 2.3% (2.1%-2.5%), respectively. The following factors were associated with being MHOW compared with those with normal weight: Being younger, female gender (1.31, 1.20-1.43), higher socioeconomic status, being noncurrent cigarette smoker (1.27, 1.11-1.45), low level of physical activity (1.14, 1.03-1.25), having normal overweight during adolescence, and overweight (1.35, 1.24-1.48) or obesity (1.68, 1.53-1.86) during young adulthood. We also found strong associations between MHO and younger age groups, female gender (2.87, 2.40-3.42), being married (1.57, 1.08-2.27), Fars ethnicity (1.25, 1.10-1.43), higher socioeconomic status, ever use of tobacco (1.14, 1.00-1.30), never use of opium (1.85, 1.19-2.86), lower physical activity (1.45, 1.20-1.72), being normal weight in 15-year body pictogram and being overweight (1.87, 1.59-2.20) or obese (3.20, 2.74-3.72) in 30-year body pictogram when considering those with normal weight or MHO. Conclusion: Potentially modifiable factors including physical activity should be more emphasized. Furthermore, our study issued that it would be more reasonable that the prevention of unhealthy obesity be initiated before the development of MHO, where there are more protective factors and they could be more effective.

3.
Pediatr Blood Cancer ; 71(5): e30916, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38348531

RESUMO

BACKGROUND: Previous studies have documented that electrocardiography (ECG) can reveal a range of abnormalities, offering valuable insights into the cardiac evaluation of patients with sickle cell disease (SCD). The objective of this study is to assess the patterns of ECG abnormalities observed in these patients with SCD, and to determine their prevalence. METHOD: We systematically reviewed the literature using online databases of PubMed, Scopus, Web of Science, Embase, and Google Scholar to identify original studies that reported findings of standard ECG assessments in patients with SCD. Statistical analyses were performed using the random effects model. Additional analyses including sensitivity analysis and subgroup analysis were also conducted. RESULTS: Analysis of data from 59 studies involving 897,920 individuals with SCD revealed that 75% of these patients had abnormal ECG findings (67%-81%), which were predominantly nonspecific ST-T changes, left ventricular hypertrophy, T-wave changes, prolonged corrected QT (QTc) interval, and ischemic changes. Besides, it was shown that these patients had significantly higher odds of having any ECG abnormalities (OR of 17.50, 4.68-65.49), right atrial enlargement (6.09, 1.48-25.09), left ventricular hypertrophy (3.45, 1.73-6.89), right ventricular hypertrophy (7.18, 2.28-22.57), biventricular hypertrophy (10.11, 1.99-51.38), prolonged QTc interval (5.54, 2.44-12.59), ST depression (3.34, 1.87-5.97), and T-wave changes (5.41, 1.43-20.56). Moreover, the mean of QTc interval was significantly higher among those with SCD (23.51 milliseconds, 16.08-30.94). CONCLUSION: Our meta-analysis showed a higher prevalence of abnormal ECG findings among individuals with SCD. A significant proportion of these patients had various ECG abnormalities, suggesting a potential need for regular ECG assessments for patients with SCD.


Assuntos
Anemia Falciforme , Hipertrofia Ventricular Esquerda , Humanos , Hipertrofia Ventricular Esquerda/epidemiologia , Anemia Falciforme/complicações , Eletrocardiografia
4.
Epilepsy Behav ; 151: 109602, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38160579

RESUMO

OBJECTIVE: We investigated the frequency of coexistence of temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) in a retrospective database study. We also explored the underlying pathomechanisms of the coexistence of TLE and IGE based on the available information, using bioinformatics tools. METHODS: The first phase of the investigation was a retrospective study. All patients with an electro-clinical diagnosis of epilepsy were studied at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, Shiraz, Iran, from 2008 until 2023. In the second phase, we searched the following databases for genetic variations (epilepsy-associated genetic polymorphisms) that are associated with TLE or syndromes of IGE: DisGeNET, genome-wide association study (GWAS) Catalog, epilepsy genetic association database (epiGAD), and UniProt. We also did a separate literature search using PubMed. RESULTS: In total, 3760 patients with epilepsy were registered at our clinic; four patients with definitely mixed TLE and IGE were identified; 0.1% of all epilepsies. We could identify that rs1883415 of ALDH5A1, rs137852779 of EFHC1, rs211037 of GABRG2, rs1130183 of KCNJ10, and rs1045642 of ABCB1 genes are shared between TLE and syndromes of IGE. CONCLUSION: While coexistence of TLE and IGE is a rare phenomenon, this could be explained by shared genetic variations.


Assuntos
Epilepsia Generalizada , Epilepsia do Lobo Temporal , Epilepsia , Humanos , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/genética , Epilepsia do Lobo Temporal/diagnóstico , Estudos Retrospectivos , Estudo de Associação Genômica Ampla , Epilepsia Generalizada/complicações , Epilepsia Generalizada/genética , Epilepsia Generalizada/diagnóstico , Epilepsia/complicações , Imunoglobulina E/genética , Eletroencefalografia , Proteínas de Ligação ao Cálcio/genética
5.
Hemoglobin ; 47(6): 215-226, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38102839

RESUMO

Previous studies have shown that patients with sickle cell disease (SCD) are at high risk for obstructive sleep apnea (OSA). In the current study, we aimed to systematically review the literature to address the prevalence of OSA and associated symptoms among patients with SCD. Electronic databases, including Web of Science, Scopus, PubMed, Google Scholar, and Embase were systematically searched to identify the relevant original articles on patients with SCD. Newcastle Ottawa scale was used for quality assessment. Data were pooled by using random effects models. Subgroup analyses were performed by age groups. Thirty-nine studies containing details of 299,358 patients with SCD were included. The pooled results showed that more than half of these patients had OSA with different severities. The prevalence rates of OSA among children with apnea hypopnea index (AHI) cutoffs of above 1, 1.5, and 5 were 51% (95% confidence interval (CI) 36-67%), 29% (95% CI 19-40%), and 18% (95% CI 14-23%), respectively. The prevalence of OSA among adults with AHI cutoff of 5 was 43% (95% CI 21-64%). The pooled rates of snoring, nocturnal enuresis, nocturnal desaturation, and daytime sleepiness were 55% (95% CI 42-69%), 37% (95% CI 33-41%), 49% (95% CI 26-72%), and 21% (95% CI 12-30%), respectively. Given the high prevalence of OSA in patients with SCD, probable greater burden of SCD complications, and irreversible consequences of OSA, screening for OSA symptoms and signs seems useful in these patients. By screening and identifying this heterogeneous disorder earlier, available treatment modalities can be individualized for each patient.


Assuntos
Apneia Obstrutiva do Sono , Adulto , Criança , Humanos , Prevalência , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/epidemiologia
7.
Health Sci Rep ; 6(4): e1167, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37064309

RESUMO

Background and Aims: Previous studies have shown that supplementation of some amino acids such as l-arginine or its precursors could exert beneficial effects in patients with sickle cell disease (SCD). The objective of this study is to systematically review the literature to assess the effect of arginine administration on the clinical and paraclinical parameters of patients with SCD. Methods: Four online databases of PubMed, Web of Sciences, Scopus, and Embase were selected for systematic search. Eligible studies were clinical trials that evaluated the effect of arginine usage in patients with SCD. Effects sizes were calculated using weighted mean difference (WMD) and Hedge's g and they were pooled using random-effects modeling with Hartung-Knapp adjustment. Additional analyses were also conducted. Results: Twelve studies containing detail of 399 patients with SCD were found to be eligible. The data synthesis showed that l-arginine significantly increased the level of NO metabolites (Hedge's g: 1.50, 0.48-1.82, I 2: 88%) and hemoglobin F (WMD: 1.69%, 0.86-2.52, I 2: 0%) and significantly decreased systolic blood pressure (WMD: -8.46 mmHg, -15.58 to -1.33, I 2: 53%) and aspartate transaminase (Hedge's g: -0.49, -0.73 to -0.26, I 2: 0%). However, there were no significant effects on hemoglobin, reticulocyte, malondialdehyde and diastolic blood pressure, and alanine transaminase. Conclusion: Our meta-analysis showed that l-arginine use for SCD could be beneficial, increase hemoglobin F and exert blood pressure-lowering and hepatoprotective properties. However, for a firm conclusion and widespread use of  l-arginine for these patients, more studies are needed.

8.
Front Endocrinol (Lausanne) ; 14: 1123999, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36798664

RESUMO

Background: Modern societies face infertility as a global challenge. There are certain environmental conditions and disorders that damage testicular tissue and may cause male infertility. Melatonin, as a potential antioxidant, may protect testicular tissue. Therefore, we conducted this systematic review and meta-analysis to evaluate the effects of melatonin in animal models against physical, heat, and ischemic damage to the testicular tissue. Methods: PubMed, Scopus, and Web of Science were systematically searched to identify animal trials evaluating the protective effect of melatonin therapy on rodent testicular tissue when it is exposed to physical, thermal, ischemic, or hypobaric oxygen stress. Random-effect modeling was used to estimate the standardized mean difference and 95% confidence intervals based on the pooled data. Additionally, the Systematic Review Centre for Laboratory Animal Experimentation (SYRCLE) tool was used to assess the risk of bias. The study protocol was prospectively registered in PROSPERO (CRD42022354599). Results: A total of 41 studies were eligible for review out of 10039 records. Studies employed direct heat, cryptorchidism, varicocele, torsion-detorsion, testicular vascular occlusion, hypobaric hypoxia, ischemia-reperfusion, stress by excessive or restraint activity, spinal cord injury, and trauma to induce stress in the subjects. The histopathological characteristics of testicular tissue were generally improved in rodents by melatonin therapy. Based on the pooled data, sperm count, morphology, forward motility, viability, Johnsen's biopsy score, testicular tissue glutathione peroxidase, and superoxide dismutase levels were higher in the melatonin treatment rodent arms. In contrast, the malondialdehyde level in testicular tissue was lower in the treatment rodent arms. The included studies suffered from a high risk of bias in most of the SYRCLE domains. Conclusion: This study concludes that melatonin therapy was associated with improved testicular histopathological characteristics, reproductive hormonal panel, and tissue markers of oxidative stress in male rodents with physical, ischemic, and thermal testicular injuries. In this regard, melatonin deserves scientific investigations as a potential protective drug against rodent male infertility. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022354599.


Assuntos
Infertilidade Masculina , Melatonina , Humanos , Animais , Masculino , Melatonina/farmacologia , Melatonina/uso terapêutico , Sêmen , Testículo , Modelos Animais de Doenças , Infertilidade Masculina/patologia
9.
Int J Prev Med ; 13: 130, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36452471

RESUMO

Background: In the name of extensive vaccine uptake, understanding the public's attitude, perception, and intent toward COVID-19 vaccination is a significant challenge for public health officials. Methods: A cross-sectional survey via an online questionnaire rooted in the Health Belief Model and Integrated Behavioral Model was conducted to evaluate COVID-19 vaccination intent and its associated factors. Factor analysis and multivariate logistic regression were operated to be satisfactory. Results: Among the 4,933 respondents, 24.7% were health care workers, and 64.2% intended to accept COVID-19 vaccination. The adjusted odds (aOR) of COVID-19 vaccination intent was higher for individuals with greater exposure to social norms supportive of COVID-19 vaccination (aOR = 3.07, 95% Confidence Interval (CI) = 2.71, 3.47) and higher perceived benefits of COVID-19 vaccination (aOR = 2.9, 95% CI = 2.49, 3.38). The adjusted odds of vaccination intent were lower for individuals with greater COVID-19 vaccine safety concerns (aOR = 0.28, 95%CI = 0.25, 0.31). Lower vaccination intent was also associated with increasing age ((aOR = 0.99, 95% CI = 0.98, 0.999), female sex (aOR = 0.76, 95% CI = 0.65, 0.88), and working in the health care field (aOR = 0.75, 95% CI = 0.63, 0.9). Conclusions: The odds of COVID-19 vaccination intent were higher three or more times among those with a greater belief in vaccine effectiveness, lower concerns about vaccine safety, and greater exposure to cues to vaccinate, including from doctors. This last finding is concerning as vaccine acceptance was surprisingly lower among health care workers compared to others. The remarkable results of factor analysis and reliability of the questionnaire may encourage local health authorities to apply it to their regional population.

10.
Infect Dis (Lond) ; 54(8): 543-557, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35522073

RESUMO

BACKGROUND: Dysfunction of both the innate and the adaptive immune systems is observed in severe coronavirus disease 2019 which, together with administration of immunosuppressive drugs, could lead to cytomegalovirus coinfection or reactivation associated with a poorer outcome. The current study aimed to systematically review the pattern, presentations, clinical course and outcome of patients with severe acute respiratory syndrome coronavirus 2 and cytomegalovirus coinfection. METHODS: Three online databases, PubMed, Scopus and Web of Science, were searched, and after excluding duplicates and irrelevant reports, eligible articles were identified. Information about patients' age and gender, comorbidities, presentations of coronavirus disease 2019 and cytomegalovirus, treatment courses and outcomes were extracted. RESULTS: A total of 34 reports with 59 patients with coinfection were considered to be eligible for data extraction. A majority of patients were middle-aged or elderly (84.5%). More than three-fourths (79.2%) had at least one comorbidity. Cytomegalovirus viremia was documented in 43 patients. The most common end organ involved was the gastrointestinal tract in 13 patients (48.1% of 27 patients with end organ involvement), mostly as cytomegalovirus colitis, followed by the respiratory tract in 12 patients. There was a significant association between intubation and fatal outcome (p = .011). CONCLUSION: We comprehensively reviewed published cases with coronavirus disease 2019 and cytomegalovirus reactivation. The findings may assist in appraising signs and symptoms for early suspicion, detection and treatment in patients with unusual clinical courses or with severe, prolonged or unexplained deterioration of end organ function.


Assuntos
COVID-19 , Coinfecção , Infecções por Citomegalovirus , Idoso , COVID-19/complicações , Coinfecção/epidemiologia , Citomegalovirus , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/epidemiologia , Humanos , Pessoa de Meia-Idade , SARS-CoV-2
11.
Respir Med Case Rep ; 37: 101644, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35392550

RESUMO

In this study, we reported a previously immunocompetent patient who developed cytomegalovirus-induced gastric ulcers after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 33-year-old man was referred to our center with complaints of persistent dysphagia and odynophagia, and epigastric pain and discomfort after ingesting solids or liquids, a few days after his hospital discharge following admission to treat coronavirus disease 2019 (Covid-19). Endoscopy revealed inflammation and a whitish exudate in the esophagus, and multiple large active ulcers in the stomach. Histopathological and immunohistochemical findings were strongly suggestive of cytomegalovirus infection.

12.
Iran J Public Health ; 50(2): 232-244, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33747987

RESUMO

BACKGROUND: The necessity of easing pandemic restrictions is explicit. Due to the harsh consequences of lockdowns, governments are willing to find reasonable pathways to reopen their activities. METHODS: To find out the basics of developing a reopening roadmap, on 6th-10th July 2020, we conducted a systematic search on PubMed, Scopus, and Web of Science to review the databases; and Google by manual to review the grey literature. Two independent authors extracted the data, and the senior author solved the discrepancies. RESULTS: Sixteen documents were included. Data categorized into four sections: principals, general recommendations for individuals, health key metrics, and in-phases strategy. The number of phases or stages differed from three to six, with a minimum of two weeks considered for each one. Health key metrics were categorized into four subsets: sufficient preventive capacities, appropriate diagnostic capacity, appropriate epidemiological monitoring, and sufficient health system capacity. These metrics were used as the criteria for progressing or returning over the roadmap, which guarantees a roadmap's dynamicity. Noticeably, few roadmaps did not mention the criteria that may alter the dynamicity of their roadmap. When some areas face new surges, the roadmap's dynamicity is essential, and it is vital to describe the criteria to stop the reopening process and implement the restrictions again. CONCLUSION: Providing evidence for policymaking about lifting the COVID-19 restrictions seems to be missed in the literature should be addressed more, and further studies are recommended.

13.
BMC Public Health ; 21(1): 442, 2021 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-33663464

RESUMO

BACKGROUND: Refugees are highly vulnerable to many health-related risks. Monitoring non-communicable diseases (NCDs) is of overriding importance in these populations. This study aimed to investigate the prevalence of risk factors for NCDs amongst Afghan refugees in a refugee camp located in southern Iran. METHODS: This cross-sectional sturdy was conducted in 2018. Risk factors such as inadequate nutrition, physical inactivity, tobacco smoking, obesity and overweight, hypertension (HTN), elevated fasting plasma glucose (FPG), and dyslipidaemia were assessed. Data were gathered with a modified WHO STEPS procedure. Prevalence and age-standardized prevalence and their 95% confidence intervals (CI) were estimated. RESULTS: The estimated prevalence were 94% for inadequate fruit/vegetable consumption, 18% for physical inactivity, 9% for tobacco smoking, 3% for FPG, 20% for HTN, 51% for central obesity, 24% for overweight, 19% for obesity, and 69% for dyslipidaemia. CONCLUSIONS: Except for inadequate fruit and vegetable intake and dyslipidaemia, the prevalence of other NCD risk factors was low among Afghan refugees in Iran. Raising awareness about healthy diet and its importance and the provision of more affordable fruit and vegetables are two effective measures toward improving the health of refugees in Iran.


Assuntos
Hipertensão , Doenças não Transmissíveis , Refugiados , Estudos Transversais , Humanos , Hipertensão/epidemiologia , Irã (Geográfico)/epidemiologia , Doenças não Transmissíveis/epidemiologia , Prevalência , Fatores de Risco
14.
Hematology ; 26(1): 225-239, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33594951

RESUMO

OBJECTIVE: As COVID-19 is a new emerging disease, the hematological/immunological changes that develop in the infected patients remain unknown. This study aims to systematically review the hematologic autoimmune complications in these patients. METHOD: Data from three online databases including Medline (via PubMed), Scopus and Web of Science were searched on 19 December 2020, and after excluding duplicate, irrelevant and inappropriate records, eligible documents were identified. Afterwards, information such as patients' history, presentations, paraclinical data, treatment course and outcome were extracted from the records. RESULTS: A total of 58 documents were considered to be eligible for data extraction which described 94 patients with COVID-19 who developed hematologic autoimmune disorder in their course of infection. Of these patients with COVID-19, the most common hematologic autoimmune disorder was immune thrombocytopenic purpura (55 cases) followed by autoimmune hemolytic anemia (22 cases). Other hematologic autoimmune disorders include antiphospholipid syndrome, thrombotic thrombocytopenic purpura, Evans syndrome and autoimmune neutropenia. CONCLUSION: The current study would help us to always consider an autoimmune etiology for cases with abnormal hematologic finding which further lead to an appropriate treatment of the patients, especially when the symptoms present in about 1-2 weeks after the first manifestation of the infection symptoms. Maybe, at least in this pandemic, it should be recommended to evaluate patients with unexpected and unexplained decrease in their hemoglobulin or platelet count for COVID-19. Another challenging issue is the treatment options. Given the multiorgan involvement and multifaceted nature of the infection, an individualized approach should be taken for each patient.


Assuntos
Doenças Autoimunes/etiologia , COVID-19/complicações , Doenças Hematológicas/etiologia , Anemia Hemolítica Autoimune/sangue , Anemia Hemolítica Autoimune/etiologia , Síndrome Antifosfolipídica/sangue , Síndrome Antifosfolipídica/etiologia , Doenças Autoimunes/sangue , COVID-19/sangue , Doenças Hematológicas/sangue , Humanos , Neutropenia/sangue , Neutropenia/etiologia , Púrpura Trombocitopênica Idiopática/sangue , Púrpura Trombocitopênica Idiopática/etiologia , Púrpura Trombocitopênica Trombótica/sangue , Púrpura Trombocitopênica Trombótica/etiologia , SARS-CoV-2/isolamento & purificação , Trombocitopenia/sangue , Trombocitopenia/etiologia
15.
Neurol Res ; 42(11): 905-912, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32698732

RESUMO

OBJECTIVES: This study aims to systematically review the neurological complications in patients with SARS-CoV-2 infection and the methods used to diagnose both neurological complications and coronavirus infection. METHODS: Data from three different online databases (PubMed, Scopus and Web of Science) were searched on 29 April 2020 and after duplicate, irrelevant, and inappropriate records were excluded, data extraction was done. RESULTS: The 22 records included for analysis provided 57 patients with neurological sequelae. The neurological complications reported ranged widely from ischemic cerebrovascular accidents to cerebral hemorrhage and were seen at both peripheral and central nervous system levels. The most frequently reported neurological complication was acute ischemic cerebrovascular accident, followed by Guillain-Barré syndrome. CONCLUSIONS: Considering the possibility of neurological involvement in patients with SARS-CoV-2 infection can result in earlier diagnosis and treatment; otherwise permanent, irreversible sequelae and even death may follow. More comprehensive studies may indicate that until the end of the present pandemic, young adults with unexplained and unexpected stroke as well as patients with newly diagnosed Guillain-Barré syndrome should be tested for SARS-CoV-2 infection.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/complicações , Doenças do Sistema Nervoso/etiologia , Pneumonia Viral/complicações , COVID-19 , Infecções por Coronavirus/virologia , Gerenciamento de Dados , Humanos , Doenças do Sistema Nervoso/virologia , Pandemias , Pneumonia Viral/virologia , SARS-CoV-2 , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/virologia
16.
Intractable Rare Dis Res ; 9(2): 109-112, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32494559

RESUMO

Immunodeficiency 10 is an autosomal recessive disorder presenting with iris hypoplasia, muscular hypotonia and nonprogressive myopathy, recurrent bacterial infections, autoimmune hemolytic anemia, hypohidrosis and nail dysplasia caused by the mutation of stromal interaction molecule 1 gene (STIM1). Herein, we present a new case of STIM1 mediated immunodeficiency, carrying a novel frameshift mutation. Our patient presented with nephrotic syndrome, hypotonia, myopathy, recurrent bacterial infections, thrombocytopenia and autoimmune hemolytic anemia. She is now 23 months old and is on steroid, cyclosporine and monthly IVIG. She has had no recent significant infections and is receiving rehabilitation therapy to improve her motor skills. Rare genetic syndromes should be suspected in patients of consanguineous parents, who present with a set of different manifestations. Gathering all the patient's manifestations together and looking them as one disease should be encouraged.

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