Abstract Bladder tumors occur more frequently between the fifth and seventh decades of life - they are rare before 40 years of age. Rhabdomyosarcoma is a rare embryonic tumor originating from skeletal muscle tissue. The tumor can appear anywhere in the body, even where there is no skeletal muscle. When located in the genitourinary tract, it can present with hematuria and anuria. The nevus sebaceous of Jadassohn (NSJ) is a congenital hamartoma of cutaneous structures, with epithelial and adnexal origin, present in approximately 0.3% of newborns, and may contain any component of the skin, including sebaceous and apocrine glands or hair. When associated with syndromic features such as mental retardation, central nervous system abnormalities, cardiovascular defects such as the cardiac arrhythmia reported in this case, ocular or skeletal abnormalities, it is called linear sebaceous nevus syndrome, or Schimmelpenning syndrome.

Resumo Os tumores de bexiga ocorrem com mais frequência entre a quinta e a sétima década de vida, sendo raros antes dos 40 anos de idade. O rabdomiossarcoma é um tumor embrionário raro originado do tecido muscular esquelético que pode aparecer em qualquer parte do corpo, mesmo onde não há músculo esquelético. Quando localizado no trato geniturinário, pode apresentar-se com hematúria e anúria. O nevo sebáceo de Jadassohn (NSJ) é um hamartoma congénito de estruturas cutâneas, de origem epitelial e anexial, presente em aproximadamente 0,3% dos recém-nascidos, podendo conter qualquer componente da pele, incluindo glândulas sebáceas e apócrinas ou cabelos. Quando está associado a características sindrómicas, como atraso mental, anomalias do sistema nervoso central, defeitos cardiovasculares (como a arritmia cardíaca relatada neste caso), anomalias oculares ou esqueléticas, é denominado síndrome do nevo sebáceo linear ou síndrome de Schimmelpenning.

Resumo Fundamento O índice imunoinflamatório sistêmico (IIS), derivado das contagens de neutrófilos, plaquetas e linfócitos, representa o equilíbrio homeostático entre os estados inflamatório, imune e trombótico. O IIS é superior a índices como a relação neutrófilos-linfócitos no prognóstico de várias malignidades, além de ser um melhor preditor de futuros eventos cardíacos que os fatores de risco tradicionais após a intervenção coronariana. Objetivos Este estudo objetivou avaliar a relação do IIS com a carga aterosclerótica e complicações hospitalares em pacientes com síndrome coronariana aguda. Métodos Desfechos clínicos, como extensão do dano miocárdico, carga aterosclerótica, sangramento, insuficiência renal aguda, duração da internação e mortalidade hospitalar, foram avaliados em uma coorte retrospectiva de 309 pacientes consecutivos com síndrome coronariana aguda. O IIS foi calculado como (plaqueta x neutrófilos)/contagem de linfócitos na admissão. A população estudada foi categorizada em tercis de IIS. Valores de p<0,05 foram considerados estatisticamente significativos. Resultados Os maiores valores de IIS foram encontrados em pacientes com infarto do miocárdio com supradesnivelamento do segmento ST (641,4 com angina pectoris instável, 843,0 com infarto do miocárdio sem supradesnivelamento do segmento ST e 996,0 com infarto do miocárdio com supradesnivelamento do segmento ST; p=0,004). Concentração máxima de troponina (0,94 versus 1,26 versus 3; p<0,001), número de vasos doentes (1 versus 2 versus 2; p<0,001), escore SYNTAX ( The SYNergy between percutaneous coronary intervention with TAXus and cardiac surgery — sinergia entre intervenção coronária percutânea com taxus e cirurgia cardíaca) (9 versus 14 versus 17,5; p<0,001) e duração da internação (2 versus 2 versus 3; p<0,001) também aumentaram de acordo com o tercil de IIS (tercil 1 versus tercil 2 versus tercil 3). O IIS foi um preditor independente de escore SYNTAX (ß: 0,232 [0,001 a 0,003]; p<0,001), extensão do dano miocárdico (ß: 0,152 [0 a 0,001]; p=0,005) e duração da internação (ß: 0,168 [0,0 a 0,001]; p=0,003). Conclusões Este estudo demonstrou que o IIS, um índice hematológico simples, é um marcador melhor de carga aterosclerótica e internação mais longa do que fatores de risco bem conhecidos em pacientes com síndrome coronariana aguda de alto risco.

Abstract Background Systemic immune-inflammatory index (SII), which is derived from neutrophil, platelet and lymphocyte counts, represents the homeostatic balance among inflammatory, immune and thrombotic status. The systemic immune-inflammatory index is superior to indices such as neutrophil-lymphocyte ratio in predicting prognosis in various malignancies, while it is shown to predict future cardiac events better than traditional risk factors after coronary intervention. Objectives Herein, we aimed to evaluate the relationship of the systemic immune-inflammatory index with atherosclerotic burden and in-hospital complications in acute coronary syndrome patients. Methods The clinical outcomes, such as extent of myocardial damage, atherosclerotic burden, bleeding, acute kidney injury, duration of hospital stay and in-hospital mortality, were evaluated in a retrospective cohort of 309 consecutive acute coronary syndrome patients. The systemic immune-inflammatory index was calculated as (Platelet X Neutrophil)/Lymphocyte count on admission. Study population was categorized into tertiles with regard to systemic immune-inflammatory index. A p value of <0.05 was considered statistically significant. Results The highest systemic immune-inflammatory index values were within ST elevation myocardial infarction patients (641.4 in unstable angina pectoris, 843.0 in non-ST elevation myocardial infarction patients and 996.0 in ST elevation myocardial infarction patients; p=0.004). Maximal troponin concentration (0.94 vs. 1.26 vs. 3; p<0.001), number of diseased vessels (1 vs. 2 vs. 2; p<0.001), the SYNTAX (synergy between percutaneous coronary intervention with taxus and coronary artery bypass grafting) score (9 vs. 14 vs. 17.5; p<0.001) and duration of hospital stay (2 vs. 2 vs. 3; p<0.001) also increased with increasing SIItertile(tertile1 vs. tertile 2 vs. tertile 3). Systemic immune-inflammatory index was an independent predictor of SYNTAX score (ß: 0.232 [0.001 to 0.003]; p<0.001), extent of myocardial damage (ß: 0.152 [0 to 0.001]; p=0.005) and duration of hospital stay (ß: 0.168 [0.0 to 0.001]; p=0.003). Conclusions This study has demonstrated that the systemic immune-inflammatory index, a simple hematological index, is a marker of atherosclerotic burden and longer hospital stay on well-known risk factors in high risk acute coronary syndrome patients.

Resumo Fundamento Alguns pacientes com COVID-19 apresentam injúria miocárdica. Objetivo Detectar a injúria miocárdica em pacientes criticamente doentes, e comparar o envolvimento cardíaco entre crianças com síndrome respiratória aguda grave (SARS) e crianças com síndrome inflamatória multissistêmica (MIS-C). Métodos Todas as crianças acometidas da COVID-19 admitidas em uma unidade de terapia intensiva de referência foram cadastradas de forma prospectiva e fizeram uma ecografia transtorácica bidimensional (ETT-2D) e um teste de troponina I cardíaca (cTnI) nas primeiras 72 horas. Para a análise estatística, um p <0,05 bilateral foi considerado significativo. Resultados 33 pacientes foram incluídos, dos quais 51,5% apresentaram cTnI elevada e/ou ETT-2D anormal e 36,4% precisaram de suporte cardiovascular, que foi mais frequente em pacientes com cTnI elevada e anormalidades em ETT-2D do que em pacientes com exames normais (83,3% e 33,3%, respectivamente; p 0,006, 95% IC = 0,15-0,73). Os achados de ETT-2D mais comuns foram efusão pericárdica (15,2%) e regurgitação tricúspide/mitral (15,2%). Sinais de envolvimento cardíaco foram mais comuns na MIS-C que na SARS. Pacientes com MIS-C também apresentaram um índice mais alto de necessidade de suporte cardiovascular (66,7% X 25%, p 0,03, 95% IC = -0,7 a -0,04) e um índice mais frequente de cTnI elevada (77,8% X 20,8%; p 0,002, 95% IC = 0,19 a 0,79). Os valores preditivos negativos de cTnI para detecção de anormalidades de ETT-2D foram 100% para pacientes com MIS-C, e 73,7% para pacientes com SARS. Conclusão Sinais de injúria cardíaca foram comuns, especialmente em pacientes com MIS-C. As anormalidades na ETT-2D foram sutis. A realização de um teste de cTnI na admissão pode ajudar os prestadores de assistência de saúde a discriminar os pacientes com uma necessidade mais urgente de uma ETT-2D.

Abstract Background Some patients with COVID-19 present myocardial injury. Objective To detect myocardial injury in critically ill paediatric patients, and to compare cardiac involvement between children with severe acute respiratory syndrome (SARS) and children with multisystemic inflammatory syndrome (MIS-C). Methods All COVID-19 children admitted to a referral intensive care unit were prospectively enrolled and had a two-dimensional echocardiogram (2D-TTE) and a cardiac troponin I (cTnI) assay within the first 72 hours. For statistical analysis, two-sided p < 0.05 was considered significant. Results Thirty-three patients were included, of which 51.5% presented elevated cTnI and/or abnormal 2D-TTE and 36.4% needed cardiovascular support, which was more frequent in patients with both raised cTnI and 2D-TTE abnormalities than in patients with normal exams (83.3% and 33.3%, respectively; p 0.006, 95% CI = 0.15-0.73). The most common 2D-TTE findings were pericardial effusion (15.2%) and mitral/tricuspid regurgitation (15.2%). Signs of cardiac involvement were more common in MIS-C than in SARS. MIS-C patients also presented a higher rate of the need for cardiovascular support (66.7% vs 25%, p 0.03, 95% CI = -0.7 to -0.04) and a more frequent rate of raised cTnI (77.8% vs 20.8%; p 0.002, 95% CI = 0.19 to 0.79). The negative predictive values of cTnI for the detection of 2D-TTE abnormalities were 100% for MIS-C patients and 73.7% for SARS patients. Conclusion signs of cardiac injury were common, mainly in MIS-C patients. 2D-TTE abnormalities were subtle. To perform a cTnI assay upon admission might help providers to discriminate those patients with a more urgent need for a 2D-TTE.

Resumo Fundamento: A síndrome cardiorrenal tipo 1 associa-se a maior mortalidade em pacientes com insuficiência cardíaca (IC). No entanto, há escassez de publicações comparando critérios diagnósticos de lesão renal aguda (LRA). Objetivos: Analisar o perfil clinicofuncional de pacientes com IC e fatores associados a ocorrência de lesão renal aguda (LRA). Métodos: Estudo de coorte retrospectivo, em hospital terciário de região com baixo desenvolvimento econômico que incluiu pacientes com IC descompensada ou infarto agudo do miocárdio (IAM) recente, sendo avaliadas características clínicas, laboratoriais e ecocardiográficas comparativamente em pacientes com e sem LRA classificada pelos critérios Acute Kidney Network (AKIN) e Kidney Disease: Improving Global Outcomes (KDIGO). Nível de significância estatística com valor de p < 0,05. Resultados: Entre 81 pacientes, 61,73% evoluíram com LRA. A média de creatinina foi 1,79±1,0 mg/dL e de ureia 81,5±46,0 mg/dL, sendo maior no grupo com LRA (p < 0,05). Não foi evidenciada relação entre alterações cardíacas e redução da função renal. A doença renal crônica se associou a maior ocorrência de LRA (38% x 3,23% sem LRA, p = 0,001). Não houve diferença do KDIGO com relação ao critério AKIN. Os pacientes que desenvolveram LRA apresentaram maior mortalidade (32% x 9,8% no grupo sem LRA, p = 0,04, com odds ratio (OR) de 8,187 e intervalo de confiança 1,402-17,190, p = 0,020). Conclusão: Nessa casuística de pacientes com IC, a ocorrência de LRA foi elevada e foi fator de risco independente de mortalidade. As alterações cardíacas não se associaram à ocorrência de LRA, e os critérios diagnósticos KDIGO e AKIN apresentaram performance similar.

Abstract Background: Type 1 cardiorenal syndrome is associated with higher mortality in heart failure patients. However, few studies have compared the diagnostic criteria of acute kidney injury (AKI) in this population. Objective: To assess clinical and functional features and factors associated AKI in patients with heart failure. Method: Retrospective, cohort study on patients with decompensated heart failure or recent acute myocardial infarction, conducted in a tertiary hospital in a low-income region of Brazil. Clinical, laboratory and echocardiographic features were compared between patients with and without AKI according to the Acute Kidney Network (AKIN) and Kidney Disease: Improving Global Outcomes (KDIGO) criteria. The level of statistical significance was set at p < 0.05. Results: Of 81 patients, 61.73% had AKI. Mean creatinine and urea levels were 1.79±1.0 mg/dL and 81.5±46.0 mg/dL, respectively, and higher in the group with AKI (p < 0.05). No evidence of a relationship between cardiac changes and reduced renal function. Chronic renal disease was associated with higher prevalence of AKI. Higher mortality was observed in patients with AKI than in patients without AKI (32.0% vs. 9.8%, p = 0.04, OR 8.187 ad 95% confidence interval 1.402-17.190, p = 0.020). Conclusion: In this population of patients with heart failure, AKI was highly prevalent and considered an independent risk factor for mortality. Cardiac changes were not associated with AKI, and the KDIGO and AKIN criteria showed similar performance.

Resumen: el síndrome X frágil es la causa más frecuente de retraso psicomotor vinculado al cromosoma X en niños, con una prevalencia de 1 : 5.000 en hombres y 1 : 4.000 - 8.000 en mujeres. Además, es la causa hereditaria más asociada al síndrome del espectro autista. Esta patología posee como base etiológica la expansión del triplete CGG en el extremo distal del gen FMR1, lo que causa su silenciamiento. Los pacientes afectados con este síndrome suelen padecer de problemas conductuales, neurológicos, cardíacos y ortopédicos. Este síndrome también se relaciona con la insuficiencia ovárica primaria asociada al X frágil, y el síndrome de temblor y ataxia asociado al X frágil que afectan a la madre y al abuelo materno, y que, por su reciente descripción, podrían ser desconocidos por el personal sanitario, lo que retrasa su diagnóstico y tratamiento. El objetivo de este artículo es analizar estas enfermedades, con el fin de describir el conocimiento actual sobre su etiología, las manifestaciones clínicas, el diagnóstico y el tratamiento. Esto se realizó mediante la recopilación de artículos en Pubmed, con algunas contribuciones de las bases de datos Scielo, Redalyc, Europe PMC, Science Direct, Google Académico y Genetics Home Reference. Entre las conclusiones principales se destaca que los fenotipos asociados a la premutación del gen FMR1 contemplan mecanismos fisiopatológicos diferentes al síndrome X frágil, a pesar de estar íntimamente relacionados.

Abstract: fragile X syndrome is the most common cause of X-linked psychomotor retardation in children, with a prevalence of 1 : 5.000 in males and 1 : 4.000 -8.000 in females. It is also the hereditary cause most associated with autism spectrum syndrome. The etiological basis of this pathology is the expansion of the CGG triplet at the distal end of the FMR1 gene, which causes its silencing. Patients affected with this syndrome usually suffer from behavioral, neurological, cardiac and orthopedic problems. This syndrome is also related to Fragile X-associated primary ovarian insufficiency, and Fragile X-associated tremor and ataxia syndrome affecting the mother and maternal grandfather, which, because of their recent description, may be unknown to health care providers, delaying their diagnosis and treatment. The objective of this article is to analyze these diseases, in order to describe the current knowledge about their etiology, clinical manifestations, diagnosis and treatment. This was done by collecting articles in Pubmed, with some contributions from Scielo, Redalyc, Europe PMC, Science Direct, Google Scholar and Genetics Home Reference databases. Among the main conclusions, it is highlighted that the phenotypes associated with FMR1 gene premutation involve different pathophysiological mechanisms to Fragile X syndrome, despite being closely related.

Resumo: a síndrome do X frágil é a causa mais comum de retardo psicomotor ligado ao cromossomo X em crianças, com prevalência de 1 : 5.000 em homens e 1 : 4.000 a 8.000 em mulheres. Além disso, é a causa mais hereditária associada à síndrome do espectro do autismo. Essa patologia tem como base etiológica a expansão do trigêmeo CGG na extremidade distal do gene FMR1, o que causa seu silenciamento. Pacientes com essa síndrome geralmente sofrem de problemas comportamentais, neurológicos, cardíacos e ortopédicos. Essa síndrome também está relacionada à insuficiência ovariana primária associada ao X frágil, à síndrome do tremor e à ataxia associada ao X frágil, que acometem a mãe e o avô materno, e que, devido à sua descrição recente, poderiam ser desconhecidas pelos profissionais de saúde, o que atrasa seu diagnóstico e tratamento. O objetivo deste artigo é analisar essas doenças, a fim de descrever o conhecimento atual sobre sua etiologia, manifestações clínicas, diagnóstico e tratamento. Isso foi feito através da recopilação de artigos no Pubmed, com algumas contribuições das bases de dados Scielo, Redalyc, Europe PMC, Science Direct, Google Academic e Genetics Home Reference. Dentre as principais conclusões, destaca-se que os fenotipos associados à premutação do gene FMR1 incluem outros mecanismos fisiopatológicos além da síndrome do X frágil, apesar de eles estarem intimamente relacionados.

Resumo Fundamento O grau de fluxo TIMI e a contagem quadro a quadro TIMI corrigida (CTFC) são métodos amplamente utilizados para avaliar o fluxo sanguíneo coronariano angiográfico. A medição do fluxo sanguíneo coronariano (FSC) na coronariografia (CAG) padrão despertou grande interesse recentemente, tentando combinar o conceito de CTFC com novos métodos para pós-angioplastia e avaliação da síndrome cardíaca X. Além disso, o fluxo coronariano lento é considerado um critério importante para a angina microvascular. Objetivo Explorar uma nova abordagem de medição angiográfica quantitativa do FSC com base na detecção densitométrica de contraste na CAG offline, usando um software acessível para obter uma avaliação mais precisa e confiável do FSC. Métodos Trinta pacientes foram estudados e divididos em 2 grupos: fluxo sanguíneo coronariano normal (FN) e fluxo sanguíneo coronariano lento (FL), de acordo com a definição da CTFC. O MD foi aplicado à amostra do estudo para diferenciar entre FN e FL. A estatística não paramétrica foi usada para avaliar diferenças entre os grupos com p<0,05. Resultados O valor de referência normal do MD obtido para o fluxo sanguíneo coronariano foi de 9 [5–10] quadros. Os grupos FN vs. FL foi comparado e expresso como mediana [intervalo interquartil], para a artéria descendente anterior esquerda: 10 [7–11] vs. 21 [8–33]; p=0,016; artéria circunflexa: 9 [4–13] vs. 14 [11–30]; p=0,012 e artéria coronária direita: 5 [3–11] vs. 13 [8–26]; p=0,009. Conclusão O MD mostrou a viabilidade de medir o fluxo sanguíneo coronariano com precisão, consistência e reprodutibilidade em um angiograma coronariano padrão, mostrando a capacidade adicional de diferenciar FN de FL em pacientes com dor precordial e artérias coronárias normais. (Arq Bras Cardiol. 2020; 115(3):503-512)

Abstract Background TIMI flow grade and corrected TIMI frame count (CTFC) are widely used methods to evaluate angiographic coronary blood flow. Measurement of coronary blood flow (CBF) on standard coronary angiography (CAG) has aroused great interest recently, trying to combine the CTFC concept with new methods for post-angioplasty and for cardiac syndrome X assessment. Additionally, coronary slow flow it is now considered a major criterion for microvascular angina. Objective Explore a new approach of quantitative angiographic measurement of CBF based on densitometric contrast detection in CAG off-line, using an accessible software to obtain a more precise and reliable CBF assessment. Methods Thirty patients were studied and divided in 2 groups, normal coronary blood flow (NF) and slow coronary blood flow (SF), according to CTFC definition. The DM was applied to the study sample to differentiate between NF and SF. Non-parametric statistics was used to assess differences between groups at p<0.05. Results The DM normal reference value obtained for coronary blood flow was 9 [5–10] frames. NF vs SF group were compared and expressed as median [interquartile range], for the left anterior descending: 10 [7-11] vs 21 [8-33];p= 0.016; circumflex: 9 [4-13] vs 14 [11-30]; p= 0.012 and right coronary artery: 5 [3-11] vs 13 [8-26]; p=0.009. Conclusion The DM showed the feasibility of measuring coronary blood flow with precision, consistency and reproducible in a standard coronary angiogram, showing the additional capability to differentiate between NF and SF in chest pain patients with normal coronary arteries. (Arq Bras Cardiol. 2020; 115(3):503-512)

Abstract Background: The Wiskott-Aldrich syndrome is a combined immunodeficiency associated with a syndrome linked to the X chromosome, which is characterized by eczema, recurrent infections, and thrombocytopenia. Other manifestations include autoimmune disorders such as hemolytic anemia or thrombocytopenic purpura mediated by the immune system, increased susceptibility to malignant tumors, including lymphoma or leukemia. Case report: A 7-year-old male patient with a diagnosis of Wiskott-Aldrich syndrome who was treated with intravenous gamma globulin, antimicrobial prophylaxis with trimethoprim/sulfamethoxazole, and fluconazole, as well as with prednisone and cyclosporine due to hemolytic anemia and uveitis. Suddenly, he presented a deviation of the left labial commissure, so he was hospitalized. The studies showed a giant aneurysm of the aorta root, ascending aorta, descending aorta, and right coronary aorta, with insidious cardiac symptoms; therefore, he was referred to the vascular surgery department. Conclusions: Vasculitis in Wiskott-Aldrich syndrome is rare and it is usually asymptomatic in early stages, so an annual cardiovascular evaluation should be performed in order to avoid the complications of an aneurysm, which can be deleterious in this type of immunodeficiency where the possibility of death from bleeding is high.

Resumen Antecedentes: El síndrome de Wiskott-Aldrich es una inmunodeficiencia combinada asociada al síndrome ligado al cromosoma X, que se caracteriza por eccema, infecciones de repetición y trombocitopenia. Otras manifestaciones son los trastornos autoinmunes como anemia hemolítica o púrpura trombocitopénica mediada por el sistema inmunológico y susceptibilidad incrementada a tumores malignos, como linfoma o leucemia. Caso clínico: Niño de siete años, con diagnóstico de síndrome de Wiskott-Aldrich, en quien se estableció tratamiento con gammaglobulina intravenosa, profilaxis antimicrobiana con trimetoprima-sulfametoxazol y fluconazol, así como prednisona y ciclosporina debido a anemia hemolítica y uveítis. De forma súbita presentó desviación de la comisura labial izquierda, por lo que fue hospitalizado. Los estudios indicaron aneurisma gigante de la raíz de la aorta, aorta ascendente, descendente y coronaria derecha, con sintomatología cardiaca insidiosa, por lo que fue referido al servicio de cirugía vascular. Conclusiones: La vasculitis en el síndrome de Wiskott Aldrich es poco común y suele ser asintomática en las fases iniciales, por ello debe realizarse evaluación cardiovascular anual para evitar complicaciones propias de un aneurisma, que pueden ser deletéreas en este tipo de inmunodeficiencia, en las cuales existe mayor riesgo de muerte por sangrado.

RESUMO Paciente do sexo masculino apresentando síndrome gripal aguda com diagnóstico tomográfico e laboratorial de infecção por síndrome respiratória aguda grave. Evoluiu com disfunção cardíaca aguda durante a internação, motivo pelo qual foi submetido à ressonância magnética cardíaca, que confirmou miocardite aguda, indicando acometimento cardíaco por COVID-19. Foram realizadas revisão e discussão sobre o acometimento cardíaco na COVID-19, com ênfase nos aspectos por imagem para o diagnóstico.

ABSTRACT A male patient with flu-like symptoms and tomography and laboratory diagnosis of severe acute respiratory syndrome. He developed acute cardiac dysfunction during admission and was submitted to a cardiac magnetic resonance imaging examination, which confirmed acute myocarditis, indicating cardiac involvement by coronavirus disease 2019. A review and discussion about coronavirus disease 2019-related cardiac manifestations are reported, focusing on the imaging findings to make diagnosis.

ABSTRACT Objective: To evaluate the effects of 16 weeks of periodized aerobic interval training (AIT) on cardiac autonomic modulation and cardiovascular parameters of metabolic syndrome (Mets) individuals. Subjects and methods: The sample was composed of 52 subjects with a diagnosis of Mets, allocated into two groups: AIT (AITG; n = 26) and control (CG; n = 26). The AITG was submitted to a periodized AIT program, over 16 weeks, while CG was not submitted to any training program. To evaluate the autonomic modulation and cardiovascular parameters in both groups, heart rate variability (HRV) indices, blood pressure (BP), and heart rate (HR) were measured at the beginning and end of the training. Results: Statistically significant differences were not observed in HFms2 (high frequency in milisseconds), LFnu (low frequency in normality unit), HFnu (high frequency in normality unit), and LF/HF ratio indices, or in the cardiovascular parameters BP and HR when comparing the AITG with the CG. However, significant increases in rMSSD (root-means square differences of successive R-R intervals), LFms2 (low frequency in milliseconds), and SDNN (standard deviation of normal to normal intervals) were observed in the AITG. Conclusion: Periodized AIT promoted positive effects on autonomic modulation of Mets subjects, characterized by an increase in the parasympathetic, sympathetic, and global modulation of this population. Additionally, cardiovascular parameter alterations were not observed in Mets subjects submitted to periodized AIT.

Abstract: Introduction: Danon syndrome was first described by Danon MJ in 1981. This rare disease is a triad consisting of dilated cardiomyopathy, myopathy and mental retardation. The etiology of the disease is associated with mutations in the LAMP2 gene on chromosome X. To date, only mutations in the LAMP2 gene have been associated with the disease. Case presentation: We present the case of a male patient who was initially suspected of being affected by Pompe disease and polymyositis without response to the treatments. He required implantation of pacemakers, and posteriorly a cardioverter defibrillator and isolation of pulmonary veins. Therefore, due to the lack of clarity in the diagnosis, endomyocardial biopsy and genetic studies were performed in order to establish the diagnosis. We found a novel mutation in the LAMP2 gene which had not been reported previously. Discussion: Danon disease is a dominant hereditary syndrome linked to the X chromosome. Danon, specifically is caused by an accumulation of glycogen in muscle cells without alterations in the enzymes responsible for its metabolism. It compromises cardiovascular, muscular and neurological systems, liver and spleen. Cardiac tissue exhibits severe fibrosis, which favors the development of supraventricular and ventricular arrhythmias. As for the diagnosis, the gold standard test is genetic analysis. The treatment is focused on the management of the manifestations that the patient presents, since there is no specific treatment. Conclusions: Danon disease requires further studies in order to obtain epidemiological data for this condition. To date, only mutations in the LAMP2 gene have been documented as the main etiology of Danon disease. We found a single nucleotide deletion in LAMP2 resulting in a frameshift mutation which is the probable cause of Danon disease in this patient.

Resumen: Introducción: El síndrome de Danon fue descrito por primera vez por MJ Danon en 1981. Esta rara enfermedad es una tríada que consiste en miocardiopatía dilatada, miopatía y retraso mental. La etiología de la enfermedad está asociada con mutaciones en el gen LAMP2 en el cromosoma X. Hasta la fecha, sólo las mutaciones en el gen LAMP2 se han asociado con la enfermedad. Presentación del caso: Presentamos el caso de un paciente masculino que inicialmente se sospechó que estaba afectado por la enfermedad de Pompe y polimiositis sin respuesta a los tratamientos. Requirió la implantación de marcapasos y, posteriormente, un desfibrilador cardioversor y el aislamiento de las venas pulmonares. Entonces, debido a la falta de claridad en el diagnóstico, se realizaron biopsias endomiocardíacas y estudios genéticos para establecer el diagnóstico. Encontramos una nueva mutación en el gen LAMP2 que no se había informado anteriormente. Discusión: La enfermedad de Danon es un síndrome hereditario dominante relacionado con el cromosoma X. Danon, específicamente es causado por una acumulación de glucógeno en las células musculares sin alteraciones en las enzimas responsables de su metabolismo. Compromete los sistemas cardiovascular, muscular y neurológico, el hígado y el bazo. El tejido cardiaco exhibe fibrosis severa, que favorece el desarrollo de arritmias supraventriculares y ventriculares. En cuanto al diagnóstico, la prueba estándar de oro es el análisis genético. El tratamiento se centra en el manejo de las manifestaciones que presenta el paciente, ya que no existe un tratamiento específico. Conclusiones: La enfermedad de Danon requiere más estudios para obtener datos epidemiológicos de esta condición. Hasta la fecha, sólo las mutaciones en el gen LAMP2 se han documentado como la principal etiología de la enfermedad de Danon. Encontramos la eliminación de un solo nucleótido en LAMP2 que resulta en una mutación de cambio de estructura que es la causa probable de la enfermedad de Danon en este paciente.

Resumo Fundamentos: Embora uma proporção de pacientes com SCX tenha dilatação mediada por fluxo da artéria braquial (DMF) prejudicada em resposta à hiperemia, sugerindo que a disfunção endotelial nestes pacientes pode ser sistémica e não limitar-se à circulação coronariana, os mecanismos subjacentes que desencadeiam a disfunção endotelial nestes pacientes ainda não são completamente compreendidos. Objetivos: Avaliar a associação do índice de resistência microcirculatória (IMR) com a disfunção endotelial e a inflamação em pacientes com SCX. Métodos: Estudaram-se 20 pacientes com SCX e 20 sujeitos de controle emparelhados em idade e género. A reserva de fluxo coronariano derivada da termodiluição (RFC) e a IMR forma medidas usando um fio guia com ponta de sensor de temperatura e pressão. A DMF da artéria braquial foi medida utilizando imagens ultrassónicas bidimensionais de alta resolução obtidas com um aparelho de ultrassom Doppler (HDI-ATL 5000, EE.UU.) com transdutor linear de 5 MHz a 12 MHz. Resultados: Em comparação com os sujeitos de controle, a RFC foi significativamente menor (2,42 ± 0,78 vs 3,59 ± 0,79, p < 0,001); o IMR foi maior (32,2 ± 8,0 frente a 19,5 ± 5,5, p < 0,001); a concentração de PCR-as e DMF foi maior (4,75 ± 1,62 frente a 2,75 ± 1,50, 5,24 ± 2,41 diante de 8,57 ± 2,46, p < 0,001) em pacientes com SCX. A escore de Duke (ED) se correlacionou positivamente com RFC e DMF (0,489 e 0,661, p < 0,001), foi negativa para IMR e PCR-as (-0,761 e -0,087, p < 0,001) em pacientes com SCX. Conclusões: O principal achado neste estudo é que o ED medido em pacientes com SCX esteve associado a PCR-as e DMF. Por outra parte, os efeitos independentes da tolerância ao exercício podem piorar significativamente a DMF e a PCR-as em pacientes com SCX especialmente, é particularmente importante que a DMF se associou negativamente com a RIM.

Abstract Background: Although a proportion of CSX patients have impaired brachial artery flow-mediated dilatation (FMD) in response to hyperemia, suggesting that endothelial dysfunction in these patients may be systemic and not just confined to the coronary circulation; the underlying mechanisms triggering endothelial dysfunction in these patients are still incompletely understood. Objectives: To assess the association of the index of Microcirculatory Resistance (IMR) with endothelial dysfunction and inflammation in patients with CSX. Methods: We studied 20 CSX patients and 20 age and gender-matched control subjects. Thermodilution-derived coronary flow reserve (CFR) and IMR were measured using a pressure-temperature sensor-tipped guidewire. Brachial artery FMD was measured using high-resolution, two-dimensional ultrasound images obtained with a Doppler ultrasound device (HDI-ATL 5000, USA) with a 5 MHz to 12 MHz linear-array transducer. Results: Compared with in control subjects, CFR was significantly lower (2.42 ± 0.78 vs. 3.59 ± 0.79, p < 0.001); IMR was higher (32.2 ± 8.0 vs. 19.5 ± 5.5, p < 0.001); the concentration of hs-CRP and FMD was higher (4.75 ± 1.62 vs. 2.75 ± 1.50; 5.24 ± 2.41 vs. 8.57 ± 2.46, p < 0.001) in CSX patients. The Duke treadmill score (DTS) was correlated positively to CFR and FMD (0.489 and 0.661, p < 0.001), it was negative to IMR and hsCRP (-0.761 and -0.087, p < 0.001) in CSX patients. Conclusions: The main finding in this study is that the DTS measured in patients with CSX was associated to hsCRP and FMD. Moreover, the independent effects of exercise tolerance can significantly impair FMD and hsCRP in CSX patients; especially it is particularly important to whom where FMD was associated negatively with IMR.

Introducción: El síndrome de Turner es una disgenesia gonadal. Frecuencia: 1/2500 nacidas vivas. El patrón genético es, 45,XO (mayoría). El diagnóstico es tardío por la variedad del fenotipo. Objetivo: Conocer las manifestaciones clínicas y de laboratorio, en niñas con diagnostico de síndrome de Turner, en la consulta de Endocrinología Infantil del Hospital Universitario Dr. Ángel Larralde, 2009- 2014. Métodos: Estudio descriptivo, no experimental, de corte transversal. Resultados: De 6 niñas con diagnostico de Síndrome de Turner, 3 fueron escolares, 2 adolescentes y 1 preescolar. Entre los cariotipos involucrados: 45,XO (33%), isocromas X (33%), 45,X/46,XX (17%) y 45,X/46,XY (17%). Único motivo de consulta fue talla baja. Todas presentaron cuello corto, micrognatia y tronco ancho. Frecuencia de malformaciones: 4 niñas presentaron cardiopatías congénitas y 2 malformaciones renales. Un caso de gonadoblastoma asociado a 45,X/46,XY. Conclusión: El retardo en el diagnóstico es un factor que eleva la morbi-mortalidad. El tratamiento debe ser multidisciplinario.

Introduction: Turner syndrome is a gonadal dysgenesis. Frequency: 1/2500 live female births. The genetic pattern is 45,XO. Late diagnosis is probably due to the variety of the phenotype. Objective: To describe the clinical presentation and laboratory findings in girls referred to the endocrinology outpatient clinic of the Hospital Dr. Ángel Larralde, 2009-2014. Methods: Descriptive, non experimental and cross-section study. Results: 6 girls had the cytogenetic diagnosis. 3 were school children, 2 teens and 1 preschool. The karyotypes were: 45,XO (33%), isocromes (33%) 45,X/46,XX (17%) and 45,X/46,XY (17%). Short stature was the reason for consultation in all cases. Clinical findings: short neck, micrognathia and wide trunk (100%); malformations: cardiac (67%), renal (34%). One of the girls presented a gonadoblastoma with karyoype 45,X/46,XY Conclusion: Delay in diagnosis is a factor that raises morbi-mortality. Treatment should be multi-disciplinary.

El síndrome X frágil es una forma hereditaria de retraso mental con una afectación de tejido conectivo que produce prolapso de la válvula mitral. Las manifestaciones más frecuentes del síndrome X frágil son la dificultad en el aprendizaje, alteraciones morfológicas orofaciales y macroorquidismo. La utilidad de la monitorización hemodinámica avanzada para terapia dirigida por objetivos es cada vez mayor durante los procedimientos neuroquirúrgicos. La monitorización no invasiva de gasto cardiaco puede considerarse una nueva alternativa en los procedimientos neuroquirúrgicos emergentes. Nuestro objetivo fue detectar los cambios hemodinámicos en un paciente sindrómico X frágil que suelen presentar patología cardiovascular, como prolapso mitral y dilatación de la raíz aórtica, intentando obtener los mejores resultados neurológicos intraoperatorios y posoperatorios sin deteriorar la función cardiovascular individualizada por una terapia guiada por objetivos. Este tipo de monitorización no invasiva permite desarrollar la intervención quirúrgica sin demora, aportando gran información del estado hemodinámico. Este síndrome es relevante debido a sus implicaciones anestésicas y los pocos casos publicados hasta la fecha.

Fragile X syndrome is an inherited form of mental retardation with a connective tissue component involving mitral valve prolapse. The most frequent manifestations of fragile X syndrome are learning disability, orofacial morphological alterations and macroorchidism. The usefulness of advanced haemodynamic monitoring for goal-directed therapy is increasingly high during neurosurgical procedures. Non-invasive cardiac output monitoring may be considered as a new alternative for emergency neurosurgical procedures. Our aim was to detect haemodynamic changes in a syndromic fragile X patient, given the usual concomitant presentation of cardiovascular disease, such as mitral valve prolapse and dilated aortic root, in an attempt at obtaining the best intraoperative and postoperative neurological outcomes without worsening cardiovascular function, by means of individualized intra-operative goal directed therapy. This type of non-invasive monitoring allows surgery to proceed without delay and provides excellent information of the haemodynamic status. This syndrome is relevant due to its anaesthetic implications and the paucity of cases published to date.

Antecedentes: las tasas de morbilidad y mortalidad entre pacientes VIH+ han disminuido notablemente con la terapia antirretroviral, paradójicamente los problemas nutricionales que enfrentan las personas VIH+ se han multiplicado. Objetivo: determinar conocimientos, actitudes y prácticas sobre la alimentación y su relación con la presencia de síndrome metabólico en pacientes VIH/ SIDA bajo tratamiento antirretroviral. Materiales y métodos: estudio transversal. Se entrevistaron, previo consentimiento informado, 102 pacientes VIH/SIDA mayores de 18 años de una clínica especializada en VIH/SIDA en Cali-Colombia. Se utilizó un cuestionario estructurado para características socio-demográficas y clínicas relacionadas con VIH/SIDA, así como para evaluación conocimientos, actitudes y prácticas de nutrición y medición de marcadores de síndrome metabólico. Se llevó a cabo análisis descriptivo y multivariado. Resultados: adecuado nivel de conocimientos relacionados con nutrición 3,9%; prácticas saludables adecuadas frente a nutrición 2,0% y actitud favorable hacia la alimentación saludable 46,1%. El 36% presentó síndrome metabólico (principalmente colesterol HDL bajo 67,6% y triglicéridos alterados 59,8%). Tener síndrome metabólico se relacionó con algunas características de conocimientos (p<0,021) y actitudes (p=0,006), así como con un IMC≥25 (p=0,001) y contener más de tres años de tratamiento antirretroviral (p=0,003). Conclusiones: es necesario fortalecer estrategias amigables que mejoren conocimientos y comportamientos hacia la nutrición en esta población, sin afectar el control del VIH/SIDA.

Background: Morbidity and mortality among HIV+ patients have decreased significantly with antiretroviral therapy; paradoxically, nutritional problems in HIV+ people have multiplied. Aim: To determine knowledge, attitudes and practices towards nutrition, and its relation with the prevalence of metabolic syndrome among HIV+ patients receiving antiretroviral treatment. Methods: cross-sectional study, 102 HIV+ patients were interviewed, prior informed consent. Participants were over 18 year's old, and receiving comprehensive care in an HIV outpatient clinic in Cali-Colombia. A structured questionnaire was administered, which included questions about socio-demographic and clinical characteristics related to HIV/AIDS, and knowledge, attitudes and practices related to nutrition, physical activity and cardiac health. The levels of markers of metabolic syndrome were evaluated. Descriptive and multivariate analysis was performed. Results: Inadequate level of knowledge (in 3,9%) and healthy practices towards nutrition (in 2,0%) were identified, although most of the participants reported favorable attitudes regarding healthy eating habits (46,1%). 35,9% were diagnosed with metabolic syndrome (mainly related to low HDL cholesterol in 67,6% or triglycerides altered in 59,8%). The knowledge (p<0,021), attitudes (p=0,006), as well as aBMI≥25 (p=0,001) and Antiretroviral therapy for more than 3 years (p=0,003), yielded significant associations with metabolic syndrome. Conclusions: Friendly Strategies need to be strengthened to improve knowledge and behaviors toward nutrition in this population, without affecting the control of HIV/AIDS.

ABSTRACT Background: The aim of this study is to evaluate the correlation of the left ventricular diastolic function and the left ventricular geometry in patients with obstructive sleep apnoea syndrome (OSAS) by echocardiography. Methods: The 181 patients diagnosed with OSAS were divided into the normal geometry group (NG), the concentric remodelling group (CR), the eccentric hypertrophy group (EH) and the concentric hypertrophy group (CH). Pearson correlation analysis and multiple linear regression analysis were performed toward the correlation of the left ventricular diastolic function and the left ventricular geometry. Results: The E peak in the EH and CH group was significantly reduced, with significant difference; the E/A, Em, Am and Em/Am was reduced in the order of the CR, EH and CH groups, while E/Em was increased, and the difference was significant. Pearson correlation analysis revealed that the Em/Am showed significant negative correlations with the left ventricular mass index (LVMI) [r = -0.419] and relative wall thickness (RWT) [r = -0.289], while the E/Em was significantly positively correlated with the LVMI (r = 0.638) and RWT [r = 0.328] (p < 0.001). Multiple linear regression analysis revealed that LVMI and RWT had influence on the Em/Am and E/Em (r2 = 0.402, r2 = 0.107, p < 0.001). The left ventricular diastolic dysfunction was the worst in the CH group. Conclusions: There was correlation between the left ventricular diastolic dysfunction and the changes in cardiac geometry.

RESUMEN: Antecedentes: El objetivo de este estudio fue evaluar la correlación de la función diastólica ventricular izquierda y de la geometría ventricular izquierda en pacientes con síndrome de apnea obstructiva del sueño (SAOS) mediante ecocardiografía. Métodos: Los 181 pacientes diagnosticados con SAOS fueron divididos en los grupos siguientes: grupo de geometría normal (GN), grupo de remodelación concéntrica (RC), grupo de hipertrofia excéntrica (HE), y grupo de hipertrofia concéntrica (HC). Se realizaron análisis de correlación de Pearson y análisis de regresión lineal múltiple con respecto a la correlación de la función diastólica ventricular izquierda y de la geometría ventricular izquierda. Resultados: El pico E en el grupo HE y HC se redujo significativamente, con diferencias significativas; el E/A, Em, Am y Em/Am se redujo en el orden de los grupos RC, HE y HC, mientras que E/Em fue aumentado, y la diferencia fue significativa. EL análisis de correlación de Pearson reveló que el Em/Am mostró correlaciones negativas significativas con el índice de masa ventricular izquierda (IMVI) [r = -0.419] y el grosor relativo de la pared (GRP) [r = -0.289], mientras que el E/Em se correlacionó significativamente de forma positiva con el IMVI (r = 0.638) y el GRP [r = 0.328] (p < 0.001). El análisis de regresión lineal múltiple reveló que IMVI y GRP tenían influencia sobre Em/Am y E/Em (r2 = 0.402, r2 = 0.107, p < 0.001). La disfunción diastólica ventricular izquierda en el grupo HC fue la peor. Conclusiones: Hubo una correlación entre la disfunción diastólica ventricular izquierda y los cambios en la geometría cardíaca.