RESUMEN
OBJECTIVES: To describe the occurrence of both peripheral and central auditory system dysfunction in sickle cell anaemia (SCA) patients and discuss the different mechanisms hypothesised to be responsible for these alterations. METHODS: An electronic search was conducted using PubMed Central® (MEDLINE), LILACS® and Scopus® databases. This systematic review was performed in accordance with the PRISMA statement. Original observational studies that utilised audiological tests for auditory system evaluations in SCA were included. RESULTS: A total of 183 records were found in the databases searched. Twenty-one of these studies met the inclusion criteria. Pooled prevalence of sensorineural hearing loss (SNHL) was 20.5% (CI: 10.3-33%). Retrocochlear involvement was detected with the auditory brainstem response, which assesses integrity of the cochlea, 8th cranial nerve and brainstem structures. In addition, the increase in otoacoustic emission amplitudes in SCA patients indicates changes in cochlear micromechanics and precedes the expression of a detectable cochlear pathology. CONCLUSION: The prevalence of the SNHL is higher than in the general population. Dysfunction of the auditory system may be present in SCA patients, with the most probable mechanism being the presence of circulatory disturbances resulting from the chronic inflammatory state of the disease.
DYSFONCTIONNEMENT DU SYSTÈME AUDITIF DANS L'ANÉMIE FALCIFORME: REVUE SYSTÉMATIQUE ET MÉTA-ANALYSE: OBJECTIFS: Décrire l'apparition de dysfonctionnements du système auditif périphérique et central chez les patients atteints d'anémie falciforme (AF) et discuter des différents mécanismes supposés responsables de ces altérations. MÉTHODES: Une recherche électronique a été effectuée dans les bases de données PubMed Central® (MEDLINE), LILACS® et Scopus® . Cette revue systématique a été réalisée conformément au PRISMA Statement. Des études observationnelles originales utilisant des tests audiologiques pour évaluer le système auditif dans l'AF ont été incluses. RÉSULTATS: Un total de 183 enregistrements ont été trouvés dans les bases de données consultées. Vingt et une de ces études répondaient aux critères d'inclusion. La prévalence poolée de la perte auditive neurosensorielle (SNHL) était de 20,5% (IC: 10,3% à 33%). L'atteinte rétrocochléaire a été détectée avec la réponse du tronc cérébral auditif, qui évalue l'intégrité de la cochlée, du huitième nerf crânien et de la structure du tronc cérébral. De plus, l'augmentation des amplitudes des émissions otoacoustiques chez les patients atteints de l'AF indique des modifications de la micromécanique cochléaire et précède l'expression d'une pathologie cochléaire détectable. CONCLUSION: La prévalence de la SNHL est plus élevée que dans la population générale. Un dysfonctionnement du système auditif peut être présent chez les patients AF, le mécanisme le plus probable étant la présence de troubles circulatoires résultant de l'état inflammatoire chronique de la maladie.
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Anemia de Células Falciformes/epidemiología , Pérdida Auditiva Sensorineural/epidemiología , Adolescente , Niño , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Femenino , Humanos , Masculino , Emisiones Otoacústicas Espontáneas/fisiología , Enfermedades Retrococleares/epidemiologíaRESUMEN
BACKGROUND: Sickle cell disease (SCD) is the most prevalent monogenic hereditary pathology associated with the presence of hemoglobin SS in the world. It can affect individuals, leading to changes in the face and body, causing a deficiency in dental and bone tissue formation that can ultimately result in a higher level of predisposition to developing dental caries. This study aimed to evaluate the oral condition of children and adolescents with SCD in comparison with the condition of healthy controls. METHODS: This was a cross-sectional study of children and adolescents aged 5 to 18 of both sexes from a hematology center in Bahia, Brazil, and subjects without hemoglobinopathies from a public school of the same state (comparison group). There were 124 individuals, 63 in the comparison group and 61 in the disease group. Interviews, dental and periodontal exams using the DMFT and Periodontal Community Index, respectively, were performed, and the salivary buffer capacity and salivary flow rates of the entire sample population were evaluated. The categorical variables were compared using a chi-square test or Fisher's exact test. For comparison of means, the Student's-t test was used for independent samples that presented symmetrical distribution. RESULTS: The study showed that the DMFT was 2.08 (2.71) for the SCD group and 1.05 (1.67) for the comparison group (p = 0.013). For dmft, the values were 2.3 (2.6) and 0.88 (1.2), respectively, (p = 0.018). Exams of the periodontium showed the presence of gingival bleeding and dental calculus, with no statistical significance between groups (p = 0.984). When evaluating salivary flow and buffer capacity, no significant differences were observed for the flow rates (p = 0.485), but the SCD group presented a lower buffer capacity compared with the comparison group (p = 0.006). Individuals who used hydroxyurea had a dmft (2.50) higher than that of the comparison group (2.00), and salivary flow was lower than the normal rate in 70% of the children who did not use this medication. CONCLUSION: Children and teenagers with SCD had deficient oral health when compared with the comparison group, presenting a higher level of dental caries and lower buffer capacity.
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Anemia de Células Falciformes/complicaciones , Salud Bucal , Adolescente , Anemia de Células Falciformes/epidemiología , Brasil/epidemiología , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVE: This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently. METHODS: A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed. RESULTS: Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy. CONCLUSION: This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome.
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Cardiomiopatía Hipertrófica , Humanos , Femenino , Masculino , Adulto , Estudios de Seguimiento , Adulto Joven , Persona de Mediana Edad , Cardiomiopatía Hipertrófica/genética , Cardiomiopatía Hipertrófica/complicaciones , Brasil/epidemiología , Adolescente , Mutación , Proteínas Quinasas Activadas por AMP/genética , Fenotipo , Niño , Arritmias Cardíacas/genética , Arritmias Cardíacas/etiología , Síndrome , AncianoRESUMEN
PURPOSE: To investigate the functionalities of the neural pathways through the auditory evoked potentials of the brainstem and the contralateral stapedial acoustic reflexes in normal-hearing individuals with type 1 diabetes mellitus, in order to detect possible alterations in the central auditory pathways. METHODS: This is a cross-sectional study with a comparison group and a convenience sample, consisting of 32 individuals with type 1 diabetes mellitus and 20 controls without the disease. All subjects had hearing thresholds within normal limits and type A tympanometric curves. The acoustic reflex arc and brainstem auditory potentials were investigated. Statistical analyses were performed using the SPSS 17.0. The Chi-square test, Student´s t-test, and Multiple linear regression were used. RESULTS: The auditory thresholds of the acoustic reflex were statistically lower in the group with the disease at frequencies of 0.5 kHz and 1.0 kHz in the left ear (p=0.01 and p=0.01, respectively). The absolute latencies III and V of the auditory potentials of the brainstem in the right ear and V in the left ear were increased in subjects with type 1 diabetes mellitus (p=0.03, p=0.02 and p=0.03, respectively). CONCLUSION: The findings suggest that subjects with type 1 diabetes mellitus are more likely to present alterations in the central auditory pathways, even with auditory thresholds within normal limits.
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Diabetes Mellitus Tipo 1 , Potenciales Evocados Auditivos del Tronco Encefálico , Humanos , Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Reflejo Acústico/fisiología , Vías Auditivas , Estudios Transversales , Potenciales Evocados Auditivos , Pruebas de Impedancia Acústica , Umbral Auditivo/fisiologíaRESUMEN
Ultra-processed food (UPF) consumption impacts nutrient intake and plays an important role in non-communicable diseases (NCD), even among schoolchildren. This cross-sectional study aimed to characterize the food consumption of this population and its relationship with laboratory and anthropometric aspects. A sample of 190 subjects aged 5 to 19 y was randomly selected for dietary, laboratory, and anthropometric assessment. Statistical inference was calculated using Spearman's correlation. Excess weight was observed in 34%, a high Waist-to-Height Ratio in 9%, and hypertriglyceridemia in 17% of the subjects, higher among those from urban schools (45%, p = 0.011; 15%, p = 0.015; 24%, p = 0.026, respectively). UPF consumption represented 21% of caloric intake and showed a positive correlation with trans fatty acids (r = 0.70) and sugar (r = 0.59) intake. Unprocessed food consumption showed a weak, but significant, correlation with Body Mass Index (r = 0.22) and Waist Circumference (r = 0.23), while processed meat showed a negative correlation with serum ferritin (r = -0.16) and vitamins D (r = -0.20) and B12 (r = -0.15). These findings highlight the need for public policies to promote Food and Nutritional Security for schoolchildren to prevent NCD and nutritional deficiencies.
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Enfermedades no Transmisibles , Oligoelementos , Ácidos Grasos trans , Humanos , Niño , Brasil/epidemiología , Ácidos Grasos trans/efectos adversos , Alimentos Procesados , Micronutrientes , Estudios Transversales , Enfermedades no Transmisibles/epidemiología , Comida Rápida/efectos adversos , Ingestión de Energía , Dieta , Azúcares , Manipulación de AlimentosRESUMEN
BACKGROUND: Sickle cell anemia (SCA) is a hereditary disease whose cardiovascular complications are the main cause of death, the same being observed in other hemoglobinopathies. Early identification of these changes can favorably modify the course of the disease. OBJECTIVE: To compare the prevalence of cardiovascular complications between individuals with SCA and individuals with other hemoglobinopathies. METHOD: Following the recommendations of the PRISMA protocol, a systematic literature review was carried out with searches in PubMed/Medline databases, associated with a manual search. Studies that analyzed the prevalence of cardiovascular alterations in hemoglobinopathies (SCA, sickle cell trait, SC hemoglobinopathy, alpha-thalassemia and beta-thalassemia) were included. The methodological quality of the articles was assessed using the Newcastle-Ottawa scale. RESULTS: Four studies were selected for analysis, resulting in a sample size of 582 participants: 289 with SCA, 133 with SC hemoglobinopathy, 40 with beta-thalassemia, 100 healthy individuals and none with alpha-thalassemia or sickle cell trait. Dilatation of the cardiac chambers, left and right ventricular hypertrophy, pulmonary hypertension, diastolic dysfunction, mitral regurgitation and tricuspid regurgitation are more prevalent in SCA than in the other hemoglobinopathies considered. Myocardial iron overload is more frequent in thalassemia major than in sickle cell anemia. Systolic function is similar between different hemoglobinopathies. CONCLUSION: There is greater cardiovascular impairment in individuals with SCA than in those with other hemoglobinopathies, reinforcing the necessity for regular cardiovascular follow-up in sickle cell patients.
FUNDAMENTO: A anemia falciforme (AF) é uma doença hereditária cujas complicações cardiovasculares são a principal causa de morte, o mesmo sendo observado em outras hemoglobinopatias. A identificação precoce dessas alterações pode modificar favoravelmente o curso da doença. OBJETIVO: Comparar a prevalência de complicações cardiovasculares entre indivíduos com AF e indivíduos com outras hemoglobinopatias. MÉTODOS: Seguindo recomendações do protocolo PRISMA, realizou-se revisão sistemática da literatura com buscas nas bases de dados PubMed/Medline, associadas à busca manual. Incluídos estudos que analisaram a prevalência das alterações cardiovasculares nas hemoglobinopatias (AF, traço falciforme, hemoglobinopatia SC, alfatalassemia e betatalassemia). A qualidade metodológica dos artigos foi realizada pela escala de Newcastle-Ottawa. RESULTADOS: Foram selecionados para análise quatro estudos, resultando em um tamanho amostral de 582 participantes: 289 portadores de AF, 133 possuem hemoglobinopatia SC, 40 com betatalassemia, 100 indivíduos saudáveis e nenhum com alfatalassemia ou traço falcêmico. Dilatação das câmaras cardíacas, hipertrofia ventricular esquerda e direita, hipertensão pulmonar, disfunção diastólica, insuficiência mitral e insuficiência tricúspide são mais prevalentes na AF do que nas demais hemoglobinopatias consideradas. A sobrecarga miocárdica de ferro é mais frequente na talassemia maior do que na AF. A função sistólica foi similar entre as hemoglobinopatias. CONCLUSÃO: Verificou-se maior comprometimento cardiovascular nos indivíduos com AF do que naqueles com as demais hemoglobinopatias, reforçando a necessidade de acompanhamento cardiovascular regular e frequente nos pacientes falcêmicos.
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Anemia de Células Falciformes , Hemoglobinopatías , Rasgo Drepanocítico , Talasemia alfa , Talasemia beta , Humanos , Talasemia beta/complicaciones , Talasemia beta/epidemiología , Rasgo Drepanocítico/complicaciones , Talasemia alfa/complicaciones , Prevalencia , Hemoglobinopatías/complicaciones , Hemoglobinopatías/epidemiología , Anemia de Células Falciformes/complicacionesRESUMEN
OBJECTIVE: To describe the effects of combined oral contraceptives (COC) on the renin-angiotensin-aldosterone system (RAAS). DATA SOURCES: This is a systematic review according to the criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), registered in PROSPERO under the ID: CRD42020200019. Searches were performed between August 2020 and December 2021, in the following databases: Medline via Pubmed, Cochrane Central Library, Scientific Electronic Library Online, and Latin American and Caribbean Literature in Health Sciences via Virtual Health Library. The effects of the combined oral contraceptive on plasma renin activity values, plasma renin values, angiotensinogen values- also known as plasma renin substrate- angiotensin, and/or aldosterone values. STUDY SELECTION: A total of 877 studies were selected and, of these, 10 articles met the eligibility criteria and were included in this review. DATA COLLECTION: Data were combined through qualitative synthesis and included in a spreadsheet previously prepared by the authors. DATA SYNTHESIS: The collected samples ranged from 18 to 137 participants, totaling 501 women aged between 18 and 49 years throughout all studies. The studies showed increased activity of plasma renin, plasma renin substrate, angiotensin II, and aldosterone in this population. CONCLUSION: The findings of this study suggest that the COC promotes greater activation of the RAAS. Supporting the idea that its use is related to an increased risk of cardiovascular events, including systemic arterial hypertension.
OBJETIVO: Descrever os efeitos do contraceptivo oral combinado (COC) no sistema renina-angiotensina-aldosterona (SRAA). FONTES DOS DADOS: Trata-se de uma revisão sistemática de acordo com os critérios do Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), registrada no PROSPERO sob ID: CRD42020200019. As buscas foram realizadas entre agosto de 2020 e dezembro de 2021 nas bases de dados: Medline via Pubmed, Biblioteca Cochrane Central, Scientific Electronic Library Online, e Literatura Latino-americana e do Caribe em Ciências da Saúde via Biblioteca Virtual em Saúde. Consultado os artigos sobre os efeitos do contraceptivo oral combinado nos valores da atividade da renina plasmática, valores plasmáticos da renina, valores do angiotensinogênio também conhecido como substrato da renina plasmática , valores da angiotensina e/ou aldosterona. SELEçãO DOS ESTUDOS: Foram selecionados 877 estudos e, destes, 10 artigos preencheram os critérios de elegibilidade e foram incluídos nesta revisão. COLETA DE DADOS: Os dados foram combinados por meio de síntese qualitativa e inclusos em uma planilha elaborada previamente pelos autores. SíNTESE DOS DADOS: As amostras coletadas variavam entre 18 e 137 participantes, totalizando 501 mulheres com idade entre 18 e 49 anos em todos os estudos. Os estudos apresentaram aumento da atividade da renina plasmática, do substrato da renina plasmática, da angiotensina II e da aldosterona nessa população. CONCLUSãO: Os achados deste estudo sugerem que o COC promove maior ativação do SRAA. Apoiando a ideia de que o seu uso esteja relacionado ao aumento do risco de eventos cardiovasculares, incluindo a hipertensão arterial sistêmica.
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Sistema Renina-Angiotensina , Renina , Adolescente , Adulto , Aldosterona , Angiotensinógeno , Anticonceptivos Orales Combinados/efectos adversos , Femenino , Humanos , Persona de Mediana Edad , Adulto JovenRESUMEN
BACKGROUND: Chikungunya fever (CHIKF) is a serious public health problem with a high rate of infection and chronic disabling manifestations that has affected more than 2 million people worldwide since 2005. In spite of this, epidemiological data on vulnerable groups such as Indigenous people are scarce, making it difficult to implement public policies in order to prevent this disease and assist these populations. OBJECTIVE: To describe the serological and epidemiological profile of chikungunya virus (CHIKV) in two Indigenous populations in Northeast Brazil, as well as in an urbanized control community, and to explore associations between CHIKV and anthropometric variables in these populations. METHODOLOGY/PRINCIPAL FINDINGS: This is a cross-sectional ancillary study of the Project of Atherosclerosis among Indigenous Populations (PAI) that included people 30 to 70 years old, recruited from two Indigenous tribes (the less urbanized Fulni-ô and the more urbanized Truká people) and an urbanized non-Indigenous control group from the same area. Subjects underwent clinical evaluation and were tested for anti-CHIKV IgG by enzyme-linked immunosorbent assay. Serological profile was described according to ethnicity, sex, and age. The study population included 433 individuals distributed as follows: 109 (25·2%) Truká, 272 (62·8%) Fulni-ô, and 52 (12%) from the non-Indigenous urbanized control group. Overall prevalence of CHIKV IgG in the study sample was 49.9% (216; 95% CI: 45·1-54·7). When the sample was stratified, positive CHIKV IgG was distributed as follows: no individuals in the Truká group, 78·3% (213/272; 95% CI: 72·9-83·1) in the Fulni-ô group, and 5.8% (3/52; 95% CI: 1.21-16) in the control group. CONCLUSIONS/SIGNIFICANCE: Positive tests for CHIKV showed a very high prevalence in a traditional Indigenous population, in contrast to the absence of anti-CHIKV serology in the Truká people, who are more urbanized with respect to physical landscape, socio-cultural, and historical aspects, as well as a low prevalence in the non-Indigenous control group, although all groups are located in the same area.
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Anticuerpos Antivirales/sangre , Fiebre Chikungunya/sangre , Fiebre Chikungunya/etnología , Virus Chikungunya/inmunología , Adulto , Anciano , Brasil/epidemiología , Brasil/etnología , Fiebre Chikungunya/epidemiología , Fiebre Chikungunya/virología , Virus Chikungunya/aislamiento & purificación , Estudios Transversales , Femenino , Humanos , Inmunoglobulina G/sangre , Pueblos Indígenas/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Estudios SeroepidemiológicosRESUMEN
INTRODUCTION AND OBJECTIVE: Sickle cell anemia (SCA) is a genetic condition that alters the conformation of deoxygenated red blood cells, which results in their stiffening and the occurrence of vaso-occlusive crises, endothelium damage, organ dysfunction and systemic complications. Additionally, SCA limits the participation of individuals in physical and social activities. As we consider that physical exercise promotes the recovery of functional capacity and cardiorespiratory conditioning, we aim to verify the patterns of prescription, the effects and safety of exercise for individuals with SCA. METHODOLOGY: We systematically reviewed the published literature focusing on clinical trials that correlated physical exercise with SCA patients and cross-sectional studies that applied the stress test. The data research was based on the PRISMA recommendations and the following databases were used: Medline by PubMed, Cochrane, PEDro, Scielo. RESULTS: Six studies which were based on the evaluation of 212 patients aged between 13 and 40 years, were selected from 122 identified studies. Those studies associated the individual effort tolerance improvement, its inflammatory profile adjustment and the absence of alteration in the autonomic nervous system activity to physical exercise or stress test. CONCLUSION: Low-to-moderate intensity physical exercise increased the SCA individual tolerance without causing vaso-occlusive crises, nor changes in the hemorheological and inflammatory profiles.
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BACKGROUND: Mitral valve repair in paediatric patients with chronic rheumatic heart disease is superior to valve replacement and has been used with good results. OBJECTIVE: To identify predictors of unfavourable outcomes in children and adolescents submitted to surgical mitral valvuloplasty secondary to rheumatic heart disease. METHODS: Retrospective study of 54 patients under the age of 16 operated at a tertiary paediatric hospital between March 2011 and January 2017. The predictors of risk for unfavourable outcomes were: age, ejection fraction, degree of mitral insufficiency, degree of pulmonary hypertension, presence of tricuspid insufficiency, left chamber dilation, preoperative functional classification, duration of cardiopulmonary bypass, duration of anoxia, presence of atrial fibrillation, and duration of vasoactive drug use. The outcomes evaluated were: death, congestive heart failure, reoperation, residual mitral regurgitation, residual mitral stenosis, stroke, bleeding and valve replacement. For all analyzes a value of p < 0.05 was established as significant. RESULTS: Of the patients evaluated, 29 (53.7%) were female, with an average of 10.5 ± 3.2 years. The functional classification of 13 patients (25%) was 4. There was no death in the sample studied. The average duration of extracorporeal circulation was 62.7±17.8 min, and anoxia 50 ± 15.7 min. The duration of use of vasoactive drug in the immediate postoperative period has an average of 1 day (interquartile interval 1-2 days). The logistic regression model was used to evaluate the predictive variables for each unfavourable outcome. The duration of use of vasoactive drug was the only independent predictor for the outcomes studied (p = 0.007). Residual mitral insufficiency was associated with reoperation (p = 0.044), whereas tricuspid insufficiency (p = 0.012) and pulmonary hypertension (p = 0.012) were associated with the presence of unfavourable outcomes. CONCLUSION: The duration of vasoactive drug use is an independent predictor for unfavourable outcomes in the immediate and late postoperative period, while residual mitral regurgitation was associated with reoperation, and both tricuspid regurgitation and pulmonary hypertension were associated with unfavourable outcomes.
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Anuloplastia de la Válvula Mitral/métodos , Válvula Mitral/cirugía , Cardiopatía Reumática/cirugía , Adolescente , Niño , Enfermedad Crónica , Ecoencefalografía , Femenino , Humanos , Modelos Logísticos , Masculino , Anuloplastia de la Válvula Mitral/efectos adversos , Periodo Posoperatorio , Periodo Preoperatorio , Reproducibilidad de los Resultados , Estudios Retrospectivos , Cardiopatía Reumática/complicaciones , Factores de Riesgo , Estadísticas no Paramétricas , Factores de Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVE: to evaluate the effect of remote nursing monitoring on the improvement of anthropometric measurements of overweight women. METHOD: controlled, randomized clinical trial, carried out in a reference outpatient clinic for treatment of obesity. The baseline sample was composed of 101 women randomly assigned to two groups, 51 in the intervention group (IG) and 50 in the control group (CG). The IG received remote monitoring through telephone calls and conventional monitoring, and the CG received conventional monitoring. Women were assessed at the baseline and after three months of intervention. A paired t-test and analysis of covariance were used to evaluate intragroup differences in anthropometric measurements, and the statistical significance of 5% was adopted. Eighty one women completed the study. RESULTS: in the intergroup comparison after the intervention, a reduction of 1.66 kg in the mean weight (p = 0.017) and of 0.66 kg/m2 in the mean BMI (p = 0.015) was found in the intervention group. There was a borderline statistically significant (p = 0.055) reduction of 2.5 cm in WC with in the intervention group. CONCLUSION: the remote monitoring was beneficial in reducing anthropometric measurements. RBR-3hzdgv.
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Antropometría/métodos , Sobrepeso/enfermería , Consulta Remota/instrumentación , Teleenfermería/métodos , Adolescente , Adulto , Índice de Masa Corporal , Femenino , Estudios de Seguimiento , Educación en Salud , Humanos , Persona de Mediana Edad , Obesidad/enfermería , Adulto JovenRESUMEN
ABSTRACT Objective This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently. Methods A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed. Results Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy. Conclusion This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome.
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ABSTRACT Purpose To investigate the functionalities of the neural pathways through the auditory evoked potentials of the brainstem and the contralateral stapedial acoustic reflexes in normal-hearing individuals with type 1 diabetes mellitus, in order to detect possible alterations in the central auditory pathways. Methods This is a cross-sectional study with a comparison group and a convenience sample, consisting of 32 individuals with type 1 diabetes mellitus and 20 controls without the disease. All subjects had hearing thresholds within normal limits and type A tympanometric curves. The acoustic reflex arc and brainstem auditory potentials were investigated. Statistical analyses were performed using the SPSS 17.0. The Chi-square test, Student´s t-test, and Multiple linear regression were used. Results The auditory thresholds of the acoustic reflex were statistically lower in the group with the disease at frequencies of 0.5 kHz and 1.0 kHz in the left ear (p=0.01 and p=0.01, respectively). The absolute latencies III and V of the auditory potentials of the brainstem in the right ear and V in the left ear were increased in subjects with type 1 diabetes mellitus (p=0.03, p=0.02 and p=0.03, respectively). Conclusion The findings suggest that subjects with type 1 diabetes mellitus are more likely to present alterations in the central auditory pathways, even with auditory thresholds within normal limits.
RESUMO Objetivo Investigar a funcionalidade das vias neurais por meio dos potenciais evocados auditivos de tronco encefálico e os reflexos acústicos estapedianos contralaterais em sujeitos com diabetes mellitus tipo 1 normo-ouvintes, a fim de detectar possíveis alterações nas vias auditivas centrais. Método Trata-se de um estudo transversal com grupo de comparação, e amostra de conveniência, composta por 32 sujeitos com diabetes mellitus tipo 1 e 20 controles sem a doença. Todos os sujeitos apresentavam limiares auditivos dentro dos padrões de normalidade e curva timpanométrica tipo A. Foram investigados o arco-reflexo acústico e os potenciais auditivos de tronco encefálico. As análises dos resultados foram realizadas no SPSS 17.0. Utilizou-se o Teste Qui Quadrado, Teste T de Studant e Regressão linear múltipla. Resultados Os limiares auditivos do reflexo acústico foram estatisticamente menores no grupo com a doença nas frequências de 0,5 kHz e 1,0 kHz na orelha esquerda (p=0,01 e p=0,01, respectivamente). As latências absolutas III e V dos potenciais auditivos de tronco encefálico da orelha direita e V da orelha esquerda estavam aumentadas em sujeitos com diabetes mellitus tipo 1 (p=0,03, p=0.02 e p=0,03, respectivamente). Conclusão Os achados sugerem que sujeitos com diabetes mellitus tipo 1 estão mais propensos a apresentar alterações nas vias auditivas centrais, mesmo com limiares auditivos dentro dos padrões de normalidade.
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OBJECTIVES: To investigate the prevalence of sensorineural hearing loss (SNHL) in children and adolescents with sickle cell anemia (SCA) and its association with endothelial dysfunction (ED). METHODS: Fifty-two participants with stable SCA and 44 apparently healthy (AA genotype) participants aged 6-18 years were evaluated for pure tone audiometry and endothelial function using ultrasonographic imaging of the brachial artery to assess flow-mediated dilation (FMD). Laboratory analysis of the lipid profile and C-reactive protein levels was performed. RESULTS: In the SCA group, 15 (28.8%) patients presented with SNHL. The FMD values were reduced in the SCA with SNHL group compared with the SCA without SNHL and healthy groups. Logistic regression analysis showed that FMD was associated with SNHL independent of the lipid profile and SCA characteristics (odds ratio [95% confidence interval] = 0.614 [0.440-0.858]; p = 0.004). DISCUSSION: SNHL is a common complication in SCA; furthermore, this study identified a significant association between ED and SNHL. Damage to the vascular endothelium because of inflammation in SCA reduced blood flow in the inner ear. Thus, this circulatory disorder culminates in vaso-occlusive process and induces auditory disorders, such as SNHL.
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Anemia de Células Falciformes , Oído Interno , Endotelio Vascular , Pérdida Auditiva Sensorineural , Adolescente , Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/metabolismo , Anemia de Células Falciformes/patología , Niño , Estudios Transversales , Oído Interno/irrigación sanguínea , Oído Interno/metabolismo , Oído Interno/patología , Endotelio Vascular/metabolismo , Endotelio Vascular/patología , Femenino , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Sensorineural/metabolismo , Pérdida Auditiva Sensorineural/patología , Humanos , Inflamación/metabolismo , Inflamación/patología , MasculinoRESUMEN
BACKGROUND: The use of combined oral contraceptive (COC) has been related to changes in glycemic, lipid metabolism, increased oxidative stress, and systemic blood pressure, which could suggest a higher oxidation of low-density lipoprotein cholesterol (LDL-cholesterol) in women on use of COC. OBJECTIVE: To test the hypothesis that there is a difference in the plasma values of oxidized LDL among women who use and do not use COC, as well as to evaluate the correlation between it and the lipid profile and high-sensitivity C-reactive protein (hs-CRP). METHODS: Forty-two women with ages between 18 and 35 years old, who were eutrophic, irregularly active, with triglycerides < 150 mg/dL, blood glucose < 100 mg/dL, and who used or did not use COC were selected. These women were allocated in the COC group, formed by 21 women on COC use for at least 1 year; and a control group (CG), consisting of 21 women who had not used any type of hormonal contraceptive for at least 1 year. A significance level of 5% was adopted for statistical analyses. RESULTS: It was observed that GCOC showed higher values of oxidized LDL than the CG, respectively 384 mU/mL versus 283 mU/mL (p < 0.01). A positive correlation between oxidized LDL and LDL-cholesterol (r = 0.3, p < 0.05), with total cholesterol (r = 0.47, p < 0.01) and with triglycerides (r = 0.32, p < 0.03) was observed, and there was no correlation with the hs-CRP. In the categorized analysis of oxidized LDL, 71.4% of GCOC women, and 28.6% of the CG remained above the established cutoff point. CONCLUSION: Women who use COC have higher plasma levels of oxidized LDL, and there is a positive correlation between oxidized LDL and other lipid variables.
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Anticonceptivos Orales Combinados/sangre , Lipoproteínas LDL/sangre , Adulto , Proteína C-Reactiva/análisis , LDL-Colesterol/sangre , Anticonceptivos Orales Combinados/farmacología , Estudios Transversales , Femenino , Humanos , Lipoproteínas LDL/efectos de los fármacos , Estrés Oxidativo , Factores de Riesgo , Triglicéridos/sangre , Adulto JovenRESUMEN
BACKGROUND: The cardiovascular risk burden among diverse indigenous populations is not totally known and may be influenced by lifestyle changes related to the urbanization process. OBJECTIVES: To investigate the cardiovascular (CV) mortality profile of indigenous populations during a rapid urbanization process largely influenced by governmental infrastructure interventions in Northeast Brazil. METHODS: We assessed the mortality of indigenous populations (≥ 30 y/o) from 2007 to 2011 in Northeast Brazil (Bahia and Pernambuco states). Cardiovascular mortality was considered if the cause of death was in the ICD-10 CV disease group or if registered as sudden death. The indigenous populations were then divided into two groups according to the degree of urbanization based on anthropological criteria:9,10 Group 1 - less urbanized tribes (Funi-ô, Pankararu, Kiriri, and Pankararé); and Group 2 - more urbanized tribes (Tuxá, Truká, and Tumbalalá). Mortality rates of highly urbanized cities (Petrolina and Juazeiro) in the proximity of indigenous areas were also evaluated. The analysis explored trends in the percentage of CV mortality for each studied population. Statistical significance was established for p value < 0.05. RESULTS: There were 1,333 indigenous deaths in tribes of Bahia and Pernambuco (2007-2011): 281 in Group 1 (1.8% of the 2012 group population) and 73 in Group 2 (3.7% of the 2012 group population), CV mortality of 24% and 37%, respectively (p = 0.02). In 2007-2009, there were 133 deaths in Group 1 and 44 in Group 2, CV mortality of 23% and 34%, respectively. In 2009-2010, there were 148 deaths in Group 1 and 29 in Group 2, CV mortality of 25% and 41%, respectively. CONCLUSIONS: Urbanization appears to influence increases in CV mortality of indigenous peoples living in traditional tribes. Lifestyle and environmental changes due to urbanization added to suboptimal health care may increase CV risk in this population.
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Enfermedades Cardiovasculares/etnología , Enfermedades Cardiovasculares/mortalidad , Indígenas Sudamericanos/estadística & datos numéricos , Urbanización/tendencias , Adulto , Distribución por Edad , Anciano , Brasil/etnología , Causas de Muerte , Femenino , Humanos , Estilo de Vida , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores de Tiempo , Población Urbana/estadística & datos numéricos , Población Urbana/tendenciasRESUMEN
OBJECTIVE: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. SUBJECTS AND METHODS: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. RESULTS: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). CONCLUSIONS: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.
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Proteína Homeótica Nkx-2.5/genética , Mutación/genética , Factor de Transcripción PAX8/genética , Receptores de Tirotropina/genética , Disgenesias Tiroideas/genética , Brasil , Preescolar , Estudios de Cohortes , Hipotiroidismo Congénito/diagnóstico por imagen , Hipotiroidismo Congénito/etiología , Hipotiroidismo Congénito/genética , Análisis Mutacional de ADN , Femenino , Pruebas Genéticas , Humanos , Lactante , Recién Nacido , Masculino , Tamizaje Neonatal , Disgenesias Tiroideas/complicaciones , Disgenesias Tiroideas/diagnóstico por imagen , Tirotropina/sangre , Tiroxina/sangre , Factor de Transcripción HES-1/genética , UltrasonografíaRESUMEN
Abstract Introduction Sickle cell anemia (SCA) is a genetic disease associated with frequent episodes of acute illness. Changes in the lipid profile and a chronic inflammatory process make up the molecular aspects observed in this disease. Associations between these mechanisms and clinical manifestations could thus define severity profiles and therapeutic strategies. Objectives To verify whether there is an association between lipid profile and clinical manifestations in patients with SCA and if there is a correlation between lipid profile and laboratory markers in this disease. Methodology According to the PRISMA guidelines, a systematic review of the literature was conducted by searching the MEDLINE/PubMed, LILACS, SciELO, Scopus, and Cochrane databases. Articles were screened by reading the titles and abstracts, reaching those selected for full-text reading. The included studies were published between 2010 and 2020, were fully available in the databases, and addressed the proposed theme. The risk of individual bias was assessed by using the Joanna Briggs Institute checklist and the Newcastle-Ottawa scale. Results Out of the 144 identified articles, 15 were selected for analysis, resulting in a sample size of 2,230 individuals. HDL-C, LDL-C, total cholesterol , and triglycerides were the main variables analyzed in the lipid profiles. A correlation was observed between these variables and some of the most relevant clinical events in the disease, including vaso-occlusive seizures and acute thoracic syndrome. Conclusion Lipid metabolism disorders, especially hypocholesterolemia and hypertriglyceridemia, are linked to clinical events observed in SCA, suggesting they play a relevant role in the multifactorial pathogenesis of this disease.
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Resumo Fundamento A anemia falciforme (AF) é uma doença hereditária cujas complicações cardiovasculares são a principal causa de morte, o mesmo sendo observado em outras hemoglobinopatias. A identificação precoce dessas alterações pode modificar favoravelmente o curso da doença. Objetivo Comparar a prevalência de complicações cardiovasculares entre indivíduos com AF e indivíduos com outras hemoglobinopatias. Métodos Seguindo recomendações do protocolo PRISMA, realizou-se revisão sistemática da literatura com buscas nas bases de dados PubMed/Medline, associadas à busca manual. Incluídos estudos que analisaram a prevalência das alterações cardiovasculares nas hemoglobinopatias (AF, traço falciforme, hemoglobinopatia SC, alfatalassemia e betatalassemia). A qualidade metodológica dos artigos foi realizada pela escala de Newcastle-Ottawa. Resultados Foram selecionados para análise quatro estudos, resultando em um tamanho amostral de 582 participantes: 289 portadores de AF, 133 possuem hemoglobinopatia SC, 40 com betatalassemia, 100 indivíduos saudáveis e nenhum com alfatalassemia ou traço falcêmico. Dilatação das câmaras cardíacas, hipertrofia ventricular esquerda e direita, hipertensão pulmonar, disfunção diastólica, insuficiência mitral e insuficiência tricúspide são mais prevalentes na AF do que nas demais hemoglobinopatias consideradas. A sobrecarga miocárdica de ferro é mais frequente na talassemia maior do que na AF. A função sistólica foi similar entre as hemoglobinopatias. Conclusão Verificou-se maior comprometimento cardiovascular nos indivíduos com AF do que naqueles com as demais hemoglobinopatias, reforçando a necessidade de acompanhamento cardiovascular regular e frequente nos pacientes falcêmicos.
Abstract Background Sickle cell anemia (SCA) is a hereditary disease whose cardiovascular complications are the main cause of death, the same being observed in other hemoglobinopathies. Early identification of these changes can favorably modify the course of the disease. Objective To compare the prevalence of cardiovascular complications between individuals with SCA and individuals with other hemoglobinopathies. Method Following the recommendations of the PRISMA protocol, a systematic literature review was carried out with searches in PubMed/Medline databases, associated with a manual search. Studies that analyzed the prevalence of cardiovascular alterations in hemoglobinopathies (SCA, sickle cell trait, SC hemoglobinopathy, alpha-thalassemia and beta-thalassemia) were included. The methodological quality of the articles was assessed using the Newcastle-Ottawa scale. Results Four studies were selected for analysis, resulting in a sample size of 582 participants: 289 with SCA, 133 with SC hemoglobinopathy, 40 with beta-thalassemia, 100 healthy individuals and none with alpha-thalassemia or sickle cell trait. Dilatation of the cardiac chambers, left and right ventricular hypertrophy, pulmonary hypertension, diastolic dysfunction, mitral regurgitation and tricuspid regurgitation are more prevalent in SCA than in the other hemoglobinopathies considered. Myocardial iron overload is more frequent in thalassemia major than in sickle cell anemia. Systolic function is similar between different hemoglobinopathies. Conclusion There is greater cardiovascular impairment in individuals with SCA than in those with other hemoglobinopathies, reinforcing the necessity for regular cardiovascular follow-up in sickle cell patients.
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HAM/TSP (HTLV-1-associated myelopathy/tropical spastic paraparesis) is a slowly progressive disease, characterized by a chronic spastic paraparesis. It is not known if the disease carries an independent risk for cardiovascular disease. The objective of this study was to evaluate the cardiovascular risk profile related to HAM/TSP and compare it with the general population. METHODS: This was a cross-sectional study, with a control group. HAM/TSP patients were evaluated using cardiovascular risk scores (ASCVD RISK, SCORE and Framingham) and inflammatory markers (ultrasensitive CRP and IL-6), and compared with a control group of healthy individuals. We also evaluated the correlation between cardiovascular risk and the functional status of patients with HAM/TSP evaluated by the FIM scale. RESULTS: Eighty percent of patients in this study were females, mean age of 51 years (11.3). The control group showed an increased cardiovascular event risk in 10 years when ASCVD was analyzed (cardiovascular risk ≥7.5% in 10 years seen in 43% of patients in the control group vs. 23% of patients with HAM/TSP; p=0.037). There was no difference in ultrasensitive CRP or IL-6 values between the groups, even when groups were stratified into low and high risk. There was no correlation between the functional status of HAM/TSP patients and the cardiovascular risk. CONCLUSIONS: In this study, the cardiovascular risk profile of patients with HAM/TSP was better than the risk of the control group.