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Dynamic mutations in the 5' untranslated region of FMR1 are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in ovarian reserves remains unclear. We evaluated the effect of FMR1 CGG repeat lengths on ovarian reserves and in vitro fertilization (IVF) treatment outcomes in 272 women with alleles within the normal range. FMR1 CGG repeat length was investigated via PCR and capillary electrophoresis. Alleles were classified as low-normal, normal, and high-normal. Serum levels of follicle-stimulating hormone and anti-Mullerian hormone (AMH) in the follicular phase of the menstrual cycle were measured, and antral follicles (AFC) were counted. IVF outcomes were collected from medical records. Regarding FMR1 CGG repeat length alleles, 63.2% of women presented at least one low-normal allele. Those carrying low-normal alleles had significantly lower AMH levels than women carrying normal or high-normal alleles. Low-normal/low-normal genotype was the most frequent, followed by low-normal/normal and normal/normal. A comparison of ovarian reserve markers and reproductive outcomes of the three most frequent genotypes revealed that AFC in the low-normal/normal genotype was significantly lower than the low-normal/low-normal genotype. The low number of FMR1 CGG repeats affected AMH levels and AFC but not IVF outcomes per cycle of treatment.
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Hormona Antimülleriana , Fertilización In Vitro , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Reserva Ovárica , Humanos , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Femenino , Fertilización In Vitro/métodos , Reserva Ovárica/genética , Adulto , Estudios Transversales , Hormona Antimülleriana/genética , Hormona Antimülleriana/sangre , Fertilidad/genética , Infertilidad Femenina/genética , Infertilidad Femenina/terapia , Alelos , Repeticiones de Trinucleótidos/genética , Expansión de Repetición de Trinucleótido/genética , Guanina , EmbarazoRESUMEN
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.
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Introduction: Uncaria tomentosa (Willd. ex Roem. & Schult.) DC. (Rubiaceae) or UT is a medicinal plant with antiviral, antimutagenic, anti-inflammatory and antioxidant properties. Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease caused by mutations in the dystrophin gene; this deficiency leads to sarcolemma instability, inflammation, muscle degeneration and fibrosis. Objective: Considering the importance of inflammation to dystrophy progression and the anti-inflammatory activity of UT, in the present study we evaluated whether oral administration of UT extract would ameliorate dystrophy in the mdx mice, a DMD model. Methods: Eight-week-old male mdx mice were submitted to 200 mg/kg body weight daily UT oral administration for 6 weeks. General histopathology was analysed, and muscle tumor necrosis factor α, transforming growth factor-ß, myostatin and osteopontin transcript levels were assessed. The ability of mice to sustain limb tension to oppose their gravitational force was measured. Data were analysed with the unpaired Student's t-test. Results: Morphologically, both untreated and UT-treated animals exhibited internalised nuclei, increased endomysial connective tissue and variations in muscle fibre diameters. Body weight and muscle strength were significantly reduced in the UT-treated animals. Blood creatine kinase was higher in UT-treated compared to untreated animals. In tibialis anterior, myostatin, transcript was more highly expressed in the UT-treated while in the diaphragm muscle, transforming growth factor-ß transcripts were less expressed in the UT-treated. Conclusion: While previous studies identified anti-inflammatory, antiproliferative and anticarcinogenic UT effects, the extract indicates worsening of dystrophic muscles phenotype after short-term treatment in mdx mice.
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Cancer is a disease caused by uncontrolled cell growth that is responsible for several deaths worldwide. Breast cancer is the most common type of cancer among women and is the leading cause of death. Chemotherapy is the most commonly used treatment for cancer; however, it often causes various side effects in patients. In this study, we evaluate the antineoplastic activity of a parent compound based on a combretastatin A4 analogue. We test the compound at 0.01 mg mL- 1, 0.1 mg mL- 1, 1.0 mg mL- 1, 10.0 mg mL- 1, 100.0 mg mL- 1, and 1,000.0 mg mL- 1. To assess molecular antineoplastic activity, we conduct in vitro tests to determine the viability of Ehrlich cells and the blood mononuclear fraction. We also analyze the cytotoxic behavior of the compound in the blood and blood smear. The results show that the molecule has a promising antineoplastic effect and crucial anticarcinogenic action. The toxicity of blood cells does not show statistically significant changes.
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Estilbenos , Estilbenos/farmacología , Animales , Supervivencia Celular/efectos de los fármacos , Ratones , Leucocitos Mononucleares/efectos de los fármacos , Antineoplásicos/farmacología , Humanos , Carcinoma de Ehrlich/tratamiento farmacológicoRESUMEN
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.
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Artemia , Pruebas de Toxicidad Aguda , Animales , Artemia/efectos de los fármacos , Pruebas de Toxicidad Aguda/métodos , Concentración de Iones de Hidrógeno , Salinidad , Dimetilsulfóxido/toxicidadRESUMEN
Duchenne muscular dystrophy (DMD) occurs due to genetic mutations that lead to a deficiency in dystrophin production and consequent progressive degeneration of skeletal muscle fibres, through oxidative stress and an exacerbated inflammatory process. The flavonoid trilobatin (TLB) demonstrates antioxidant and anti-inflammatory potential. Its high safety profile and effective action make it a potent therapy for the process of dystrophic muscle myonecrosis. Thus, we sought to investigate the action of TLB on damage in a DMD model, the mdx mouse. Eight-week-old male animals were treated with 160 mg/kg/day of trilobatin for 8 weeks. Control animals were treated with saline. Following treatment, muscle strength, serum creatine kinase (CK) levels, histopathology (necrotic myofibres, regenerated fibres/central nuclei, Feret's diameter and inflammatory area) and the levels of catalase and NF-κB (western blotting) of the quadriceps (QUA), diaphragm (DIA) and tibialis anterior (TA) muscles were measured. TLB was able to significantly increase muscle strength and reduce serum CK levels in dystrophic animals. The QUA of mdx mice showed a reduction in catalase and the number of fibres with a centralized nucleus after treatment with TLB. In the DIA of dystrophic animals, TLB reduced the necrotic myofibres, inflammatory area and NF-κB and increased the number of regenerated fibres and the total fibre diameter. In TA, TLB increased the number of regenerated fibres and reduced catalase levels in these animals. It is concluded that in the mdx experimental model, treatment with TLB was beneficial in the treatment of DMD.
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Flavonoides , Distrofia Muscular de Duchenne , Polifenoles , Ratones , Animales , Masculino , Distrofia Muscular de Duchenne/tratamiento farmacológico , Catalasa , Ratones Endogámicos mdx , FN-kappa B , Músculo Esquelético/patologíaRESUMEN
BACKGROUND: Atopic dermatitis (AD) is a relapsing, chronic cutaneous inflammatory disease with onset, in general, in early childhood. Chronic skin inflammation is associated with overproduction of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. Oxidative stress, an imbalance between the production of free radicals and antioxidant defense, results in tissue inflammation due to the upregulation of genes that encode inflammatory cytokines. This condition plays an important role in the pathogenesis of AD. OBJECTIVE: To compare the antioxidant defense in children and adolescents with AD with that of healthy individuals and to verify the association of antioxidant defense with disease severity and nutritional status. METHODS: Cross-sectional study that evaluated 48 children and adolescents with AD and 25 controls for nutritional assessment (body mass index z score [BMIZ] and height for age z score [HAZ]) and levels of vitamins A, C, E, and D, zinc (Zn), copper (Cu), antioxidant enzymes (superoxide dismutase [SOD], catalase [CAT], glutathione peroxidase [GPx]), high-sensitivity C-reactive protein (CRP) and interleukin 33 (IL-33). RESULTS: There was no significant difference in the comparison between AD and control groups for serum levels of vitamins (A, D, C, and E), copper, and antioxidant enzymes. Serum zinc levels were higher in the AD group (ß = 24.20; 95% CI 13.95-34.91; P < 0.001) even after adjusting the BMIZ, HAZ, gender, IL-33, and CRP. Children and adolescents with moderate or severe AD compared to mild AD (SCORAD - 36.7±17.4 vs 11.8 ± 3.9; P < 0.001) had lower values of the vitamin E/total lipid ratio (3.68 [0.29;12.63] vs 5.92 [3.27;17.37]; P = 0.013). CONCLUSION: Children and adolescents with AD had higher concentrations OF elevated levels of zinc compared to controls, a fact not observed for other biomarkers of antioxidant defense. AD in moderate or severe forms presented lower concentrations of vitamin E, a potent antioxidant fat soluble.
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Antioxidantes , Dermatitis Atópica , Preescolar , Niño , Adolescente , Humanos , Dermatitis Atópica/epidemiología , Interleucina-33 , Cobre , Estudios Transversales , Vitaminas , Vitamina E , Vitamina A , Inflamación , Gravedad del Paciente , Vitamina K , ZincRESUMEN
INTRODUCTION: Zerumbone is a natural compound found in bitter ginger plants (Zingiber zerumbet) that shows antiproliferative, antioxidant, anti-inflammatory, and analgesic properties. We aimed to investigate the role of zerumbone in improving the quality of life and symptom control in cancer patients with no treatment options. METHODS: We conducted a pilot, non-randomized, single-center, open prospective, and systematic study on the use of 400 mg of zerumbone twice a day. RESULTS: The study included 35 patients (mean age, 68 years; 64% men), of which 16 completed the eight-week study. The intention-to-treat population showed no significant changes in weight or sleep quality over the eight-week study. Assessments performed using the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) showed significant improvements in the quality of life in the global (p = 0.072), activity (p = 0.0393), social (p = 0.0001), and emotional (p = 0.0023) dimensions. The Hospital Anxiety and Depression Scale (HADS) questionnaire scores showed significant improvement in anxiety (p = 0.032) and depression (p = 0.021), while the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F) questionnaire scores also indicated a significant improvement (p = 0.001). Bitter ginger showed low toxicity. CONCLUSIONS: Bitter ginger showed promising results in improving the quality of life and reducing symptoms of anxiety and depression in the study population. A randomized placebo-controlled study is necessary to confirm these results. This trial was registered under the number FMABC: CAAE - 93459418.00000082, at ISRCTN (BIOMED CENTRAL) NUMBER 4388 (03/07/23) and at Plataforma Brasil (https://plataformabrasil.saude.gov.br/login.jsf).
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Neoplasias , Sesquiterpenos , Zingiber officinale , Anciano , Femenino , Humanos , Masculino , Neoplasias/tratamiento farmacológico , Neoplasias/psicología , Estudios Prospectivos , Calidad de Vida , Proyectos PilotoRESUMEN
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.
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Enfermedades Cardiovasculares , Diabetes Mellitus Tipo 2 , Adulto , Humanos , Glucemia/metabolismo , Enfermedades Cardiovasculares/complicaciones , Estudios de Casos y Controles , Estudios Transversales , Fibronectinas , Hemoglobina Glucada , Factores de Riesgo de Enfermedad Cardiaca , Obesidad/complicaciones , Factores de RiesgoRESUMEN
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.
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Diabetes Mellitus , Nefropatías Diabéticas , Humanos , Adulto , Ratas , Animales , Anciano , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Biomarcadores , Riñón/patología , Nefropatías Diabéticas/patología , Envejecimiento , Diabetes Mellitus/patología , Factor A de Crecimiento Endotelial VascularRESUMEN
BACKGROUND: The BRCA2 gene is a well-known tumor suppressor gene implicated in breast and ovarian cancers. BRCA1/2 mutations can be sensitive to poly ADP-ribose polymerase (PARP) inhibitors such as olaparib. However, some of these patients develop resistance to this treatment and an essential factor contributing to acquired insensitivity is the occurrence of reversion mutations in the BRCA1/2 genes. CASE PRESENTATION: We report the case of a 65-year-old Brazilian female patient who had previously been diagnosed with metastatic lung carcinoma carrying a BRCA2 mutation that had extended to the central nervous system. Following disease progression, olaparib was administered, resulting in a stabilizing effect on her condition for ~ 30 months. During a routine follow-up, a new triple-negative breast tumor was found. Genetic testing revealed the presence of two distinct BRCA2 gene mutations in the breast tumor. The original mutation (p.Val220Ilefs4) led to a frameshift, culminating in the production of a truncated and non-functional BRCA2 protein; the second mutation, K437fs22, rectified the reading frame of exon 11. Consequently, Rad51 could properly bind to BRCA2-an essential protein crucial for DNA repair. This restoration resulted in a functional BRCA2 protein, effectively elucidating the clinical resistance observed in the new breast tumor in this case. CONCLUSIONS: This case report highlights the clinical significance of comprehensive next-generation sequencing analyses for lung adenocarcinomas, both at diagnosis and upon progression. Such analyses enable informed decisions regarding targeted therapies and facilitate a deeper comprehension of resistance mechanisms.
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Adenocarcinoma del Pulmón , Neoplasias Pulmonares , Neoplasias de la Mama Triple Negativas , Femenino , Humanos , Anciano , Proteína BRCA2/genética , Proteína BRCA1 , Neoplasias de la Mama Triple Negativas/tratamiento farmacológico , Neoplasias de la Mama Triple Negativas/genética , Adenocarcinoma del Pulmón/tratamiento farmacológico , Adenocarcinoma del Pulmón/genética , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Pulmonares/genética , MutaciónRESUMEN
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.
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Neoplasias de la Mama , Humanos , Femenino , Adulto , Survivin , Estudios Transversales , Pronóstico , Receptores de EstrógenosRESUMEN
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.
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OBJECTIVE: To compare serum amyloid A concentrations between overweight and eutrophic children and adolescents and to relate it to lipid profiles, glucose tolerance, and carotid intima-media thickness. METHODS: One hundred children and adolescents (mean age: 10.8±3.16 years) were included and divided into two groups: overweight and non-overweight. The following were evaluated: Z-score body mass index, carotid intima-media thickness, lipid metabolism biomarkers (lipid profile and apolipoproteins A1 and B), inflammatory biomarkers (ultra-sensitive C-reactive protein and serum amyloid A), and glucose homeostasis model assessment of insulin resistance. RESULTS: The groups were homogeneous in age, sex, and pubertal stage. Higher levels of triglycerides, apolipoprotein B, homeostasis model assessment of insulin resistance, ultrasensitive C-reactive protein, serum amyloid A, and carotid intima-media thickness were observed in the overweight group. In the multivariate analysis, age (OR=1.73; 95%CI: 1.16-2.60, p=0.007), Z-score body mass index (OR=3.76; 95%CI: 1.64-8.59, p=0.002), apolipoprotein-B (OR=1.1; 95%CI: 1.01-1.2, p=0.030), and carotid intima-media thickness (OR=5.00; 95%CI: 1.38-18.04, p=0.014) were independently associated with serum amyloid A levels above the fourth quartile of the studied sample (>9.4mg/dL). CONCLUSION: Overweight children and adolescents had higher serum amyloid A concentrations than eutrophic children. There was an independent association between higher concentrations of serum amyloid A and Z-score, body mass index, apolipoprotein B, and carotid intima-media thickness, indicating the importance of this inflammatory biomarker in identifying the early risk of atherosclerosis.
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Grosor Intima-Media Carotídeo , Resistencia a la Insulina , Humanos , Adolescente , Niño , Proteína C-Reactiva , Proteína Amiloide A Sérica , Glucosa , SobrepesoRESUMEN
BACKGROUND: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes in several organs and systems. Advances in clinical protocols have resulted in increased survival of A-T patients, however disease progression is evident, mainly through metabolic and liver changes. OBJECTIVE: To identify the frequency of significant hepatic fibrosis in A-T patients and to verify the association with metabolic alterations and degree of ataxia. METHODS: This is a cross-sectional study that included 25 A-T patients aged 5 to 31 years. Anthropometric data, liver, inflammatory, lipid metabolism and glucose biomarkers (oral glucose tolerance test with insulin curve-OGTT) were collected. The Cooperative Ataxia Rating Scale was applied to assess the degree of ataxia. The following were calculated: Homeostasis Model Assessment-Insulin Resistance, Homeostasis Model Assessment-Adiponectin (HOMA-AD), Matsuda index, aspartate aminotransferase (AST): platelet ratio index, nonalcoholic fatty liver disease fibrosis score and BARD score. Liver ultrasonography and transient liver elastography by FibroScan® were performed. RESULTS: Significant hepatic fibrosis was observed in 5/25 (20%). Patients in the group with significant hepatic fibrosis were older (p < 0.001), had lower platelet count values (p = 0.027), serum albumin (p = 0.019), HDL-c (p = 0.013) and Matsuda index (p = 0.044); and high values of LDL-c (p = 0.049), AST (p = 0.001), alanine aminotransferase (p = 0.002), gamma-glutamyl transferase (p = 0.001), ferritin (p = 0.001), 120-min glycemia by OGTT (p = 0.049), HOMA-AD (p = 0.016) and degree of ataxia (p = 0.009). CONCLUSIONS: A non-invasive diagnosis of significant hepatic fibrosis was observed in 20% of A-T patients associated with changes in liver enzymes, ferritin, increased HOMA-AD, and the severity of ataxia in comparison with patients without hepatic fibrosis.
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Ataxia Telangiectasia , Resistencia a la Insulina , Enfermedad del Hígado Graso no Alcohólico , Humanos , Estudios Transversales , Cirrosis Hepática , HígadoRESUMEN
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.
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COVID-19 , Humanos , COVID-19/epidemiología , SARS-CoV-2 , Pandemias , Brasil , Factores de RiesgoRESUMEN
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.
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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
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OBJECTIVE: The aim of this study was to evaluate serum 25(OH)D concentrations in the homebound elderly people and relate them to level of dementia, nutritional risk, and route of dietary administration. METHODS: This is a cross-sectional study involving 207 bedridden elderly people assisted by the Home Care Service in the city of Santo André - SP, from June to December 2016. The following factors were evaluated: dietary intake of vitamin D, arm circumference, triceps skin fold thickness, calf circumference, nutritional risk by Mini-Nutritional Assessment, level of dementia by the adapted Clinical Dementia Rating questionnaire, and laboratory tests such as serum concentrations of 25(OH)D, ultrasensitive C-reactive protein, alkaline phosphatase, serum calcium, and parathormone. RESULTS: The mean age of the elderly people was 81.6 (9.2) years. Deficiency of 25(OH)D was observed in 76.3% of the elderly people. There was an inverse correlation between serum concentrations of 25(OH)D: parathormone (r=-0.418, p<0.001) and alkaline phosphatase (r=-0.188, p=0.006) and a direct correlation with serum calcium (r=-0.158, p=0.022). Logistic regression showed that vitamin D deficiency was directly and independently associated with oral feeding (odds ratio 7.71; 95%CI 2.91-20.40). CONCLUSION: Bedridden households showed high prevalence of vitamin D deficiency without association with nutritional risk and level of dementia. Oral diet was associated with vitamin D deficiency, possibly due to low consumption of source foods.
Asunto(s)
Demencia , Deficiencia de Vitamina D , Anciano , Anciano de 80 o más Años , Humanos , Fosfatasa Alcalina , Calcio , Estudios Transversales , Demencia/complicaciones , Hormona Paratiroidea , Vitamina D/sangre , Deficiencia de Vitamina D/complicaciones , Personas EncamadasRESUMEN
INTRODUCTION: Bone marrow transplants primarily depend on people who previously registered to be donors. From then on, the search for compatibility between donor and recipient begins. OBJECTIVE: To describe the historical landmarks and the legal apparatus of bone marrow donor banks in Brazil based on an integrative review. METHODS: LILACS database and PubMed and SciELO journals were used. The term bone marrow transplantation was the descriptor. Eligibility criteria were: articles with the theme of Bone Marrow Transplantation (BMT) and studies carried out on the national territory. RESULTS: A total of 88,855 articles were identified, among which 185 met the eligibility criteria. After they were thoroughly read, 14 articles were selected. The studies pointed out fragments that dealt with important historical landmarks for the establishment of bone marrow transplantation as a conventional treatment for oncohematological diseases. CONCLUSION: The use of BMT has a history of more than thirty years in Brazil. However, none of the articles identified specifically addresses the historical content of bone marrow transplantation.