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1.
Curr Diabetes Rev ; 2024 Jun 20.
Article in English | MEDLINE | ID: mdl-38910479

ABSTRACT

INTRODUCTION: Diabetes Mellitus (DM) is a metabolic disorder characterized by persistent hyperglycemia and/or insulin resistance. If left uncontrolled, it can lead to a combination of cardiac and renal alterations known as cardiorenal syndrome. Additionally, oxidative stress and inflammation contribute to tissue damage, thereby reducing the life expectancy of individuals with diabetes. AIM: The aim of this study was to identify early molecular markers associated with cardiorenal syndrome, oxidative stress, and inflammation, and to investigate their correlation with the duration of exposure to DM. METHODS: An experimental DM model was employed using Wistar rats. The rats were divided into four groups: diabetic rats at 7 days (DM7), diabetic rats at 30 days (DM30), control sham at 7 days (CS7), and control sham at 30 days (CS30). Blood and brain tissue from the brainstem region were collected at 7 and 30 days after confirming DM induction. Gene expression analysis of Bnp, Anp, Cat, Gpx, Sod, Tnf-α, and Il-6 was performed. RESULTS: The analysis revealed lower expression values of Cat in the brainstem tissue of the DM7 group compared to the NDS7 group. Moreover, diabetic animals exhibited statistically lower levels of Tnf-α in their peripheral blood compared to the control animals. CONCLUSION: This study concluded that DM alters the oxidative balance in the brainstem after 7 days of DM induction, resulting in lower Cat expression levels. Although some genes did not show statistical differences after 30 days of DM induction, other genes exhibited no expression values, indicating possible gene silencing. The study identified an imbalance in the studied pathways and concluded that the organism undergoes a compensatory state in response to the initial metabolic alterations caused by DM.

2.
Altern Lab Anim ; 52(3): 142-148, 2024 May.
Article in English | MEDLINE | ID: mdl-38578132

ABSTRACT

The use of the brine shrimp Artemia salina (Leach) in acute toxicity assays has great potential due to its simplicity, low cost and reproducibility. In the current study, some of the variables that can influence the reliability of the assay in terms of test organism survival, were evaluated as part of its implementation in our laboratory. The quality and type of water used, the buffer components and other parameters (salinity, pH and dissolved oxygen level), were all evaluated for optimisation purposes. DMSO (dimethyl sulphoxide) was used as the test substance in the toxicity assay, to evaluate the concentration limits as a solvent in sample preparation. Regarding the buffer salinity, pH and dissolved oxygen level, we found that a 25% to 30% deviation from the standard values did not affect the survival of the nauplii (the first-instar larval stage) under assay conditions. In summary, we corroborate the potential use of this model for the prediction of the toxic potential of substances, to inform future testing strategies.


Subject(s)
Artemia , Toxicity Tests, Acute , Animals , Artemia/drug effects , Toxicity Tests, Acute/methods , Hydrogen-Ion Concentration , Salinity , Dimethyl Sulfoxide/toxicity
3.
Rev Assoc Med Bras (1992) ; 69(12): e20230812, 2023.
Article in English | MEDLINE | ID: mdl-37909533

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the role of irisin in type 2 diabetes mellitus and its association with metabolic alterations and obesity. METHODS: A cross-sectional case-control study was conducted on participants treated at Centro Universitário FMABC between August 2018 and July 2019, by comparing a control group (n=14) with type 2 diabetes mellitus patients (n=16). The control group consisted of participants aged above 21 years with no chronic diseases, diabetes, smoking, or illicit drug use. The type 2 diabetes mellitus group included patients aged above 21 years, who were diagnosed with type 2 diabetes for at least 5 years (glycated hemoglobin>7%). Exclusion criteria were not willing to continue, recent hospitalization, and failure to meet inclusion criteria. Biochemical parameters included blood glucose, glycated hemoglobin, plasma irisin levels, and irisin gene expression in peripheral blood. RESULTS: Type 2 diabetes mellitus patients exhibited significantly higher plasma glucose levels [143 (40) vs. 92 (13) mg/dL, *p<0.05] and glycated hemoglobin levels [7.1% (1.6) vs. 5.6% (0.5), *p<0.05] compared to the control group. Irisin gene expression in type 2 diabetes mellitus patients was lower 0.02288 (0.08050) than the control group 8.506e-006 (1.412e-005) (p=0.06). Correlation analysis revealed a positive association between irisin expression and body mass index in type 2 diabetes mellitus (Rho=0.5221, 95%CI -0.058 to 0.838, p=0.06), while plasma irisin showed a negative correlation with body mass index (Rho=-0.656, 95%CI -0.836 to 0.215, p=0.03). No significant correlations were found between plasma glucose or glycated hemoglobin levels and irisin expression. CONCLUSION: The data suggests that body mass index directly influences plasma irisin levels and the regulation of irisin gene expression, possibly linking irisin to adiposity changes observed in obesity-related type 2 diabetes mellitus.


Subject(s)
Cardiovascular Diseases , Diabetes Mellitus, Type 2 , Adult , Humans , Blood Glucose/metabolism , Cardiovascular Diseases/complications , Case-Control Studies , Cross-Sectional Studies , Fibronectins , Glycated Hemoglobin , Heart Disease Risk Factors , Obesity/complications , Risk Factors
4.
Sci Rep ; 13(1): 17927, 2023 10 20.
Article in English | MEDLINE | ID: mdl-37863950

ABSTRACT

Hyperglycemia leads to microvascular lesions in various tissues. In diabetic nephropathy-DN, alterations in usual markers reflect an already installed disease. The study of new biomarkers for the early detection of diabetic complications can bring new prevention perspectives. Rats were divided into diabetic adult-DMA-or elderly-DME and control sham adult-CSA-or control sham elderly-CSE. Blood and urine samples were collected for biochemical analysis. Bulbar region, cardiac, hepatic and renal tissues were collected for target gene expression studies. As result, DMA showed decreased TNFR1, MCT1 and CD147 expression in the bulbar region, TNFR1 in the heart, VEGFA and CD147 in the kidney and TNFR1 in blood. Positive correlations were found between TNFR1 and MCT1 in the bulbar region and HbA1c and plasma creatinine, respectively. DME showed positive correlation in the bulbar region between TNFR1 and glycemia, in addition to negative correlations between CD147 in the heart versus glycemia and urea. We concluded that the initial hyperglycemic stimulus already promotes changes in the expression of genes involved in the inflammatory and metabolic pathways, and aging alters this profile. These changes prior to the onset of diseases such as DN, show that they have potential for early biomarkers studies.


Subject(s)
Diabetes Mellitus , Diabetic Nephropathies , Humans , Adult , Rats , Animals , Aged , Receptors, Tumor Necrosis Factor, Type I/genetics , Biomarkers , Kidney/pathology , Diabetic Nephropathies/pathology , Aging , Diabetes Mellitus/pathology , Vascular Endothelial Growth Factor A
5.
Rev Assoc Med Bras (1992) ; 69(9): e20230167, 2023.
Article in English | MEDLINE | ID: mdl-37729357

ABSTRACT

OBJECTIVE: Due to the speed of development observed in breast cancer, several studies aimed at discovering new biomarkers have been carried out in order to arrive at an early diagnosis. As survivin plays a fundamental role in the evasion of apoptosis in tumor cells, the aim of this study was to verify the expression profile of the survivin gene in paraffin-embedded breast tumor samples and associate it with the clinical characteristics of the patients. METHODS: This is a cross-sectional study, for which 100 tumor samples were obtained from cancer patients treated throughout the year 2019 at Instituto de Mama do Cariri (Juazeiro do Norte, in the state of Ceará). This study included women over 30 years old who had confirmed breast cancer through anatomopathological examination but excluded those with non-neoplastic breast comorbidities, other neoplasms, or chronic diseases. Survivin gene expression was assessed by quantitative polymerase chain reaction. RESULTS: The expression of survivin is associated with the lack of expression of estrogen (p=0.027) and progesterone (p>0.0005) receptors. It means that survivin expression is higher in patients in which labeling was absent for estrogen receptor and progesterone receptor. CONCLUSION: Our data reinforce that survivin expression is higher in estrogen receptor-patients, thus representing an additional prognostic tool.


Subject(s)
Breast Neoplasms , Humans , Female , Adult , Survivin , Cross-Sectional Studies , Prognosis , Receptors, Estrogen
6.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 69(9): e20230167, set. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1514722

ABSTRACT

SUMMARY OBJECTIVE: Due to the speed of development observed in breast cancer, several studies aimed at discovering new biomarkers have been carried out in order to arrive at an early diagnosis. As survivin plays a fundamental role in the evasion of apoptosis in tumor cells, the aim of this study was to verify the expression profile of the survivin gene in paraffin-embedded breast tumor samples and associate it with the clinical characteristics of the patients. METHODS: This is a cross-sectional study, for which 100 tumor samples were obtained from cancer patients treated throughout the year 2019 at Instituto de Mama do Cariri (Juazeiro do Norte, in the state of Ceará). This study included women over 30 years old who had confirmed breast cancer through anatomopathological examination but excluded those with non-neoplastic breast comorbidities, other neoplasms, or chronic diseases. Survivin gene expression was assessed by quantitative polymerase chain reaction. RESULTS: The expression of survivin is associated with the lack of expression of estrogen (p=0.027) and progesterone (p>0.0005) receptors. It means that survivin expression is higher in patients in which labeling was absent for estrogen receptor and progesterone receptor. CONCLUSION: Our data reinforce that survivin expression is higher in estrogen receptor-patients, thus representing an additional prognostic tool.

7.
Rev Saude Publica ; 57(suppl 1): 11s, 2023.
Article in English | MEDLINE | ID: mdl-37255122

ABSTRACT

OBJECTIVE: To compare the incidence of covid-19 symptoms between informal home-based workers and a control group and to assess the association of these cases with blood elements concentrations and other relevant risk factors for Sars-Cov-2 infection. METHODS: Welders chemically exposed to potentially toxic elements (PTEs) (n = 26) and control participants (n = 25) answered questionnaires on adherence to social distancing and signs and symptoms of the disease for five months during the covid-19 pandemic. After follow-up, covid-19 serology tests were performed on a subsample of 12 chemically exposed workers and 20 control participants. Before the pandemic, PTE concentrations in blood (As, Mn, Ni, Cd, Hg, Sb, Sn, Cu, Zn, and Pb) were measured by ICP-MS. RESULTS: The chemically exposed group had higher lead and cadmium levels in blood (p < 0.01). The control group presented lower adherence to social distancing (p = 0.016). Although not significant, welders had a 74% greater chance of having at least one covid-19 symptom compared with control participants, but their adherence to social distancing decreased this chance by 20%. The use of taxis for transportation was a risk factor significantly associated with covid-19 symptoms. CONCLUSION: The lower adherence to social distancing among the control group greatly influences the development of covid-19. The literature lacks data linking exposure to PTEs and Sars-Cov-2 infection and/or severity. In this study, despite chemical exposure, working from home may have protected welders against covid-19, considering that they maintained greater social distancing than control participants.


Subject(s)
COVID-19 , Humans , COVID-19/epidemiology , SARS-CoV-2 , Pandemics , Brazil , Risk Factors
8.
Int J Gen Med ; 16: 1747-1755, 2023.
Article in English | MEDLINE | ID: mdl-37193252

ABSTRACT

Background and Aim: To identify ocular findings related to SARS-CoV-2 infection in patients after the resolution of COVID-19 using complete ocular examinations and optical coherence tomography (OCT). Methods: In this cross-sectional study, conducted from May 30 to October 30, 2020, patients who recovered from various stages COVID-19 underwent eye examination and multimodal retinal imaging (Retinographies and Spectral-OCT). Results: We included 50 patients, 29 (58%) males, median age of 46.5 [standard deviation 15.8]. Of these, 42% (21) had mild, 18% (9) had severe and 40% (20) had critical disease. The median time interquartile range (IQR) between symptom onset and ocular examination was 55 days [IQR 39-71]. Seven patients (14%) reported ophthalmic symptoms, transitory low visual acuity (6%) and retroocular pain (8%). On OCT, one patient without comorbidities had sectoral retinal pallor suggestive of acute retinal ischaemia and oedema of the retina's inner layers and atrophy. All findings progressively and spontaneously improved months after resolution of COVID-19. Conclusion: Patients with COVID-19 present findings compatible with the general population depending on age and comorbidities; nevertheless, acute retinal findings associated with the disease may be present, such as caused either by the direct effects of retinal SARS-CoV-2 infection, by indirect effects of the cytokine storm or by the pro-thrombotic state associated with COVID-19. Therefore, retinal involvement in patients with COVID-19 remains subject to considerable discussion and study.

9.
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1538310

ABSTRACT

Introduction: the COVID-19 pandemic sparked a serious health crisis in which non-essential medical services were suspended, with the management of serious diseases not related to the pandemic, including glaucoma, becoming secondary in importance. With the flexibilization of social isolation measures, resuming outpatient care was necessary, respecting the health equity provided by the Brazilian Unified Health System.Objective: to describe a risk classification of glaucoma progression based on clinical ophthalmology criteria during the COVID-19 pandemic.Methods: observational study of an administrative nature. A review was carried out of the medical records of patients who had scheduled appointments between March and September of 2020 in the glaucoma sector of the FMABC University Center's Department of Ophthalmology. A total of 489 medical records (881 eyes) were reviewed, and patients were divided into 4 groups according to the risk of glaucoma progression. Eyes were evaluated for visual acuity (VA), optic disc cup, pachymetry, intraocular pressure (IOP), mean number of eyes drop medications used, and global visual field indexes.Results: groups were homogeneous in terms of age (mean 67.04 ± 11.72 years) and sex (55.5% women and 44.5% men). Primary open-angle glaucoma was the most prevalent etiology, present in 45.2% of patients, followed by primary angle-closure glaucoma in 15.7%. The groups were compared with each other, and a statistical difference (p<0.005) was found in 04 of the 08 aspects analyzed: VA, optic disc cup, IOP and mean number of eyes drop medications used.Conclusion: the risk classification for progression proposed in this study was easily applied and aided managers in prioritizing the most serious care during the COVID-19 pandemic

10.
Article in English | MEDLINE | ID: mdl-36825727

ABSTRACT

BACKGROUND: It has already been shown that melatonin is an antitumoral molecule that affects malignant cells via some mechanisms. The benefit played by this hormone on cancer is due to its antioxidant effects. OBJECTIVE: This study aimed to evaluate the preclinical effects of melatonin in mice with the Ehrlich ascites tumor. METHODS: Twenty Balb/ c male mice with Ehrlich tumor were treated with different melatonin doses. Their inflammatory and oxidative stress were accessed by gene expression. Hepatotoxicity and hematological parameters were also evaluated through biochemical analyses. Animal welfare was analysed weekly from the categories guided by the NC3Rs. RESULTS: Gene expression analyses have shown that only Tnfα and Sod1 were expressed in all groups studied. Only the M-3 group showed increased Tnfα expression compared to the control. All groups treated with melatonin showed decreased Sod1 expression compared to the control. No signs of hepatotoxicity were caused by any of the melatonin doses used in the treatment. CONCLUSION: In animals with Ehrlich´s tumor treated with melatonin, a decrease in oxidative stress, an amelioration in welfare and in cognitive tasks could be observed, even if the treatment has not reduced the size of the tumor itself. In parallel with the already patented use of melatonin in the treatment of sleep disorders or chronic kidney disease, our results propose its use to improve the general well-being of breast cancer patients.

11.
Article in English | MEDLINE | ID: mdl-36627777

ABSTRACT

BACKGROUND: The diagnosis of Type 2 Diabetes Mellitus (T2DM) is made by demonstrating the hypoglycemic condition, which involves the determination of plasma glucose, and the follow-up of hypoglycemic treatment is performed by assessing the glycated hemoglobin (HbA1c) concentration. AIM: The aim of this study was to evaluate the saliva as an alternative sample in assessing the adherence to treatment with oral hypoglycemic agents in patients with Type 2 Diabetes. METHODS: We selected 68 patients with T2DM, who were subjected to venous blood and saliva collection, in addition to answering a standardized questionnaire on adherence to hypoglycemic treatment. Laboratory tests performed on saliva, whole blood, serum or plasma included assessment of glycemia, urea, creatinine, uric acid, total cholesterol, HDL-cholesterol, LDL-cholesterol, VLDL-cholesterol, and glycated hemoglobin. RESULTS: It was concluded that 82% of the patients adhered to hypoglycemic treatment based on glycated hemoglobin concentration (cut-off value of 7.0%). Comparing the groups that adhered to hypoglycemic treatment and those that did not adhere, statistical differences (P<0.05) were observed in the glucose, HDL-cholesterol, triglycerides, and insulin use (insulin therapy) parameters. Plasma glucose and urea serum concentration showed positive correlations when compared to saliva samples. Regarding the questionnaire, it was found that 35% of the patients presented positive screening for belief barriers and 83% positive score for recall barriers, and the positive screening correlated with glycated hemoglobin. CONCLUSION: Data have shown that it is possible to use saliva as an alternative sample to the laboratory assessment of hypoglycemic treatment adherence in T2DM patients.


Subject(s)
Diabetes Mellitus, Type 2 , Humans , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/drug therapy , Glycated Hemoglobin , Blood Glucose , Saliva , Hypoglycemic Agents , Insulin , Cholesterol, LDL , Urea
12.
Curr Drug Metab ; 23(14): 1124-1129, 2023.
Article in English | MEDLINE | ID: mdl-36624645

ABSTRACT

INTRODUCTION AND AIM: Vitamin D is the name given to a group of lipid-soluble steroidal substances of physiological importance in the body, especially in bone metabolism. The active form of vitamin D is believed to have immunomodulatory effects on immune system cells, especially T lymphocytes, as well as on the production and action of several cytokines and on the expression of potent antimicrobial peptides in epithelial cells that line the respiratory tract, playing an important role in protecting the lung from infections. The aim of this study was to assess vitamin D levels in patients with COVID-19 in healthcare service and to verify that these levels are adequate to protect the progression of this infection. METHODS: The aim of this observational study was to evaluate the serum concentration of vitamin D in 300 patients suspected of being infected with COVID-19, treated at Basic Health Units (BHUs) and at the Hospital Complex in the municipality of São Bernardo do Campo. RESULTS: 294 patients were included, 195 (66%) of which tested positive for COVID-19 and 99 (34%) negative for COVID-19. Among the patients in the positive group, 163 patients were in the mild group (84%); 22 patients in the moderate group (11%); 8 patients in the severe group (4%), and 2 patients in the deceased group (1%). CONCLUSION: For the patients in this study, no association was observed for the protective factor of vitamin D against COVID-19 infection, and its role in controlling the clinical staging of the disease was not verified.


Subject(s)
COVID-19 , Vitamin D , Humans , Vitamins , Cytokines , Epithelial Cells
13.
Curr Drug Saf ; 18(4): 511-515, 2023.
Article in English | MEDLINE | ID: mdl-35726430

ABSTRACT

INTRODUCTION: Brazil has been facing the pandemic of COVID-19 since march 2020. More than 540,000 people have died from this disease in the country. Some estimates indicate that the population exposed to SARS-CoV-2 represents 1 to 20%. However, these data are questionable due to the number of asymptomatic and untested individuals. As a result, vaccination for COVID- 19 has become the main means of achieving herd immunity. OBJECTIVES: To demonstrate, through local sampling, that broad and rapid vaccination may decrease the rate of COVID-19 detection in individuals potentially exposed to the SARS-CoV-2 virus. METHODS: A total of 1,128 individuals were studied, including students and health professionals from Centro Universitário FMABC, who received the two doses of the vaccine for COVID-19 (Oxford/Astrazeneca ® and CoronaVac®). RESULTS: In the studied period, there was a 41% reduction in the demand for RT-PCR tests after vaccination. And a 78.3% reduction in positive results after vaccination started. CONCLUSION: The results of this study showed that even vaccinating a population with higher exposure to the risk of contamination significantly reduced test positivity and the demand to perform these tests. This emphasizes that vaccination is the best strategy to achieve herd immunity and reduce the spread of the disease.


Subject(s)
COVID-19 , Humans , COVID-19/prevention & control , COVID-19 Vaccines , SARS-CoV-2 , Vaccination
14.
J Trace Elem Med Biol ; 76: 127109, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36509021

ABSTRACT

IMPORTANCE: Since the beginning of the COVID-19 pandemic, numerous metabolic alterations have been observed in individuals with this disease. It is known that SARS-CoV-2 can mimic the action of hepcidin, altering intracellular iron metabolism, but gaps remain in the understanding of possible outcomes in other pathways involved in the iron cycle. OBJECTIVE: To profile iron, ferritin and hepcidin levels and transferrin receptor gene expression in patients diagnosed with COVID-19 between June 2020 and September 2020. DESIGN, SETTING AND PARTICIPANTS: Cross-sectional study that evaluated iron metabolism markers in 427 participants, 218 with COVID-19 and 209 without the disease. EXPOSURES: The primary exposure was positive diagnose to COVID-19 in general population of Santo André and São Bernardo cities. The positive and negative diagnose were determinate through RT-qPCR. MAIN OUTCOMES AND MEASURES: Devido a evidências de alterações do ciclo do ferro em pacientes diagnosticados com COVID-19 e devido a corregulação entre hepcidina e receptor de transferrina, uma análise da expressão gênica deste último, poderia trazer insights sobre o estado de ferro celular. A hipótese foi confirmada, mostrando aumento da expressão de receptor de transferrina concomitante com redução do nível de hepcidina circulante. RESULTS: Serum iron presented lower values in individuals diagnosed with COVID-19, whereas serum ferritin presented much higher values in infected patients. Elderly subjects had lower serum iron levels and higher ferritin levels, and men with COVID-19 had higher ferritin values than women. Serum hepcidin was lower in the COVID-19 patient group and transferrin receptor gene expression was higher in the infected patient group compared to controls. CONCLUSIONS AND RELEVANCE: COVID-19 causes changes in several iron cycle pathways, with iron and ferritin levels being markers that reflect the state and evolution of infection, as well as the prognosis of the disease. The increased expression of the transferrin receptor gene suggests increased iron internalization and the mimicry of hepcidin action by SARS-CoV-2, reduces iron export via ferroportin, which would explain the low circulating levels of iron by intracellular trapping.


Subject(s)
COVID-19 , Transferrin , Male , Humans , Female , Aged , Transferrin/analysis , Hepcidins , Cross-Sectional Studies , Pandemics , SARS-CoV-2 , Iron/metabolism , Ferritins , Receptors, Transferrin , Homeostasis
15.
Rev. saúde pública (Online) ; 57(supl.1): 11s, 2023. tab, graf
Article in English | LILACS | ID: biblio-1442143

ABSTRACT

ABSTRACT OBJECTIVE To compare the incidence of covid-19 symptoms between informal home-based workers and a control group and to assess the association of these cases with blood elements concentrations and other relevant risk factors for Sars-Cov-2 infection. METHODS Welders chemically exposed to potentially toxic elements (PTEs) (n = 26) and control participants (n = 25) answered questionnaires on adherence to social distancing and signs and symptoms of the disease for five months during the covid-19 pandemic. After follow-up, covid-19 serology tests were performed on a subsample of 12 chemically exposed workers and 20 control participants. Before the pandemic, PTE concentrations in blood (As, Mn, Ni, Cd, Hg, Sb, Sn, Cu, Zn, and Pb) were measured by ICP-MS. RESULTS The chemically exposed group had higher lead and cadmium levels in blood (p < 0.01). The control group presented lower adherence to social distancing (p = 0.016). Although not significant, welders had a 74% greater chance of having at least one covid-19 symptom compared with control participants, but their adherence to social distancing decreased this chance by 20%. The use of taxis for transportation was a risk factor significantly associated with covid-19 symptoms. CONCLUSION The lower adherence to social distancing among the control group greatly influences the development of covid-19. The literature lacks data linking exposure to PTEs and Sars-Cov-2 infection and/or severity. In this study, despite chemical exposure, working from home may have protected welders against covid-19, considering that they maintained greater social distancing than control participants.


Subject(s)
Humans , Male , Female , Occupational Exposure , Chemical Compound Exposure , Informal Sector , Physical Distancing , COVID-19
16.
Curr Genomics ; 24(5): 330-335, 2023 Dec 20.
Article in English | MEDLINE | ID: mdl-38235354

ABSTRACT

Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF). Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy. Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF. Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote. Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects.

17.
Rev. bras. oftalmol ; 82: e0046, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1515079

ABSTRACT

ABSTRACT Objective To evaluate the effects of the Covid-19 pandemic on the profile of emergency eye-related visits and compare the findings with the same period before the pandemic. Methods Cross-sectional study performed during one year at a reference eye hospital. Cases registered at the emergency Municipal Hospital Complex of Santo Andre, Brazil, between March, 2019 and February, 2020 were included in the study as the Pre-pandemic group. Cases registered between March, 2020 and February, 2021 were included as the Pandemic group. Cases were classified according to the International Classification of Diseases ICD-10 and Related Health Problems. Results There was a decrease of 52.1% in the emergency eye care visits during the pandemic period (n=9,198) when compared to the pre-pandemic period (n=19,220), with significant reductions in nonspecific cases (-98.1%), postoperative visits (-67.0%), disorders of the conjunctiva (-54.1%), tear film (-49.4%) and refraction (-85.6%) during the pandemic period. Conditions such as retina disorders (+202.7%), sclera disorders (+76.2%), orbit disorders (+20.2%), glaucoma (+66.6%) and trauma (+19.4%) have shown increased rates, as well as those related to eyelids (+186.9%), cornea (+33.4%), uvea (+40.2%), and herpes (+55.3%). Conclusion A drastic reduction in the number of eye-related emergency visits was observed during the Covid-19 pandemic, outlining a new profile of care, with higher frequency of sight-threatening conditions and lower frequency of contagious and non-specific diagnosis.


RESUMO Objetivo Avaliar os efeitos da pandemia da Covid-19 no perfil dos atendimentos oftalmológicos de emergência e comparar os achados com os do período anterior à pandemia. Métodos Estudo transversal realizado ao longo de 1 ano em um hospital oftalmológico de referência. Casos registrados no Complexo Hospitalar Municipal de Emergências de Santo André (SP, Brasil) entre março de 2019 e fevereiro de 2020 foram incluídos no estudo como Grupo Pré-Pandemia. Os casos registrados entre março de 2020 e fevereiro de 2021 foram incluídos no Grupo Pandemia. Os casos foram classificados de acordo com a Classificação Internacional de Doenças e Problemas Relacionados à Saúde. Resultados Houve redução de 52,1% no número de atendimentos oftalmológicos de emergência durante o período pandêmico (n=9.198) quando comparado ao pré-pandêmico (n=19.220), com reduções significativas em casos inespecíficos (-98,1%), visitas pós-operatórias (-67,0%), distúrbios da conjuntiva (-54,1%), filme lacrimal (-49,4%) e refração (-85,6%) durante o período de pandemia. Condições como distúrbios da retina (+202,7%), distúrbios da esclera (+76,2%), distúrbios da órbita (+20,2%), glaucoma (+66,6%) e trauma (+19,4%) apresentaram taxas aumentadas, bem como aquelas relacionadas a pálpebras (+186,9%), córnea (+33,4%), úvea (+40,2%) e herpes (+55,3%). Conclusão Observou-se drástica redução no número de atendimentos oftalmológicos durante a pandemia da Covid-19, delineando um novo perfil de atendimento, com maior frequência de quadros que levam à baixa de visão e à menor frequência de diagnósticos contagiosos e inespecíficos.

18.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 69(12): e20230812, 2023. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1521504

ABSTRACT

SUMMARY OBJECTIVE: The aim of this study was to investigate the role of irisin in type 2 diabetes mellitus and its association with metabolic alterations and obesity. METHODS: A cross-sectional case-control study was conducted on participants treated at Centro Universitário FMABC between August 2018 and July 2019, by comparing a control group (n=14) with type 2 diabetes mellitus patients (n=16). The control group consisted of participants aged above 21 years with no chronic diseases, diabetes, smoking, or illicit drug use. The type 2 diabetes mellitus group included patients aged above 21 years, who were diagnosed with type 2 diabetes for at least 5 years (glycated hemoglobin>7%). Exclusion criteria were not willing to continue, recent hospitalization, and failure to meet inclusion criteria. Biochemical parameters included blood glucose, glycated hemoglobin, plasma irisin levels, and irisin gene expression in peripheral blood. RESULTS: Type 2 diabetes mellitus patients exhibited significantly higher plasma glucose levels [143 (40) vs. 92 (13) mg/dL, *p<0.05] and glycated hemoglobin levels [7.1% (1.6) vs. 5.6% (0.5), *p<0.05] compared to the control group. Irisin gene expression in type 2 diabetes mellitus patients was lower 0.02288 (0.08050) than the control group 8.506e-006 (1.412e-005) (p=0.06). Correlation analysis revealed a positive association between irisin expression and body mass index in type 2 diabetes mellitus (Rho=0.5221, 95%CI -0.058 to 0.838, p=0.06), while plasma irisin showed a negative correlation with body mass index (Rho=-0.656, 95%CI -0.836 to 0.215, p=0.03). No significant correlations were found between plasma glucose or glycated hemoglobin levels and irisin expression. CONCLUSION: The data suggests that body mass index directly influences plasma irisin levels and the regulation of irisin gene expression, possibly linking irisin to adiposity changes observed in obesity-related type 2 diabetes mellitus.

19.
J Med Food ; 25(11): 1029-1037, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35944260

ABSTRACT

Selenium has an anti-inflammatory, antioxidant, and possibly antitumoral action. Thus, we hypothesized that this element could be an ally in cancer treatment. We evaluated the effect of chelated selenium treatment of BALB/c mice with Erhlich Tumor on tumor size, histology, and biochemical parameters of the liver. A total of 96 male mice were treated for 7, 15, and 30 days with different doses of chelated selenium. During the 7 days of treatment, livers presented mild hydropic degeneration; after 15 days, the livers presented mild hydropic degeneration, inflammatory infiltrate, and steatosis, which was intensified in the animals treated for 30 days. Biochemical analysis showed an increase of the alanine transaminase enzyme in those animals, indicating hepatotoxicity. At the beginning of treatment, selenium was able to inhibit tumor growth. After 30 days of treatment, however, hepatotoxicity could be seen.


Subject(s)
Carcinoma, Ehrlich Tumor , Chemical and Drug Induced Liver Injury , Neoplasms , Selenium , Male , Mice , Animals , Selenium/pharmacology , Mice, Inbred BALB C , Carcinoma, Ehrlich Tumor/drug therapy , Carcinoma, Ehrlich Tumor/pathology , Liver
20.
Acta Biomed ; 93(3)2022 07 01.
Article in English | MEDLINE | ID: mdl-35775781

ABSTRACT

BACKGROUND AND AIM: DNA repair systems are functionally essential for the maintenance of life and among these, we can highlight the MutS system, subdivided into MutSα (hMSH2 and hMSH6) and MutSß (hMSH2 and hMSH3). The objective of this study was to analyze the expression of hMSH2 and hMSH6 repair genes in radiology technicians exposed to low radiation doses. METHODS: Thirty workers occupationally exposed to ionizing radiation and twenty-five non-exposed were included in this study. Gene expression was analyzed by qPCR. Peripheral blood samples were collected from both groups for total RNA isolation. RESULTS: It was observed a five-fold increase (p=0.006) in the hMSH2 repair gene expression in those exposed to radiation and a weak but significant correlation (p=0.041) with the hMSH6 genes when we associated the number of hours of exposure with gene expression. CONCLUSIONS: The longer the exposure time, the greater the activation of this component of the repair system. APPLICATION TO PRACTICE: Blood count parameters could did not alter with radiation exposure. X-rays used by radiology technicians in imaging tests can damage the DNA to the point of activating the MutS repair system and that there is a greater tendency of expression of this system in professionals that had undergone longer exposure.


Subject(s)
DNA Repair , Radiation, Ionizing , DNA Repair/genetics , Humans
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