Abscesos cerebrales por Dermacoccus nishinomiyaensis como primera manifestación de enfermedad granulomatosa crónica / Dermacoccus nishinomiyaensis brain abscesses as the first manifestation of chronic granulomatous disease

La enfermedad granulomatosa crónica es una inmunodeficiencia primaria poco frecuente, que secaracteriza por defectos en alguna de las subunidades del complejo enzimático nicotinamida adeninadinucleótido fosfato oxidasa, que ocasiona un déficit en la generación de anión superóxido por losfagocitos. Dentro de este grupo, la forma ligada al X es la más frecuente. Se reporta el caso de una paciente de sexo femenino de 2 años con enfermedad granulomatosa crónica autosómica recesiva, con mutación en gen CYBA, quien presentó manifestación inicial de la enfermedad con abscesos cerebrales ocasionados por un germen oportunista (Dermacoccus nishinomiyaensis). Esta infección permitió la sospecha diagnóstica temprana, por lo que recibió el tratamiento y la profilaxis en forma oportuna. Actualmente, se encuentra libre de infecciones, a la espera del trasplante de células progenitoras hematopoyéticas.

Chronic granulomatous disease is a rare primary immunodeficiency characterized by defects in one of the subunits of the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex, which causes a deficiency in the capacity of phagocytes to generate superoxide anion. Within this group, the X-linked form is the most frequent. Here we report the case of a 2-year-old female patient with autosomal recessive chronic granulomatous disease, with a mutation in the CYBA gene, whose initial manifestation was brain abscesses caused by an opportunistic microorganism (Dermacoccus nishinomiyaensis). The infection led to an early diagnostic suspicion, so treatment and prophylaxis were administered in a timely manner. Currently, she is infectionfree, awaiting hematopoietic progenitor cell transplantation.

Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan / Anormalidades citogenéticas em pacientes com neoplasias hematológicas na cidade de Lahore, Paquistão

Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.

As neoplasias hematológicas e de células hematopoiéticas dos genes e as células hematopoiéticas estão associadas à mutação genética, geralmente em nível cromossômico. O estudo citogenético padrão é amplamente aceito como um dos principais determinantes diagnósticos e prognósticos em pacientes. Portanto, o presente estudo descritivo e transversal buscou determinar a análise citogenética de neoplasias hematológicas frequentes no Paquistão. Um total de 202 amostras de medula óssea periférica ou sangue de pacientes com malignidade hematológica benigna e maligna foi coletado usando uma técnica convencional de banda G. Entre os pacientes inscritos, a média de idade foi de 21,5 anos ± 23,4, e a distribuição por gênero mostrou uma marcada predominância da população masculina de 147 (73%) em comparação com a feminina de 55 (27%). Pacientes na faixa etária (2-10 anos) tiveram a maior frequência, 48 (24%), de neoplasias hematológicas, seguida da idade (11-20 anos) com 40 (20%). Cariótipos normais (46, XX / 46, XY) foram encontrados em 51% (n = 103) dos pacientes. Além disso, a frequência de cariótipo complexo foi de 30 (15%), enquanto normal foi observada em 171 (85%) pacientes. Leucemia linfoblástica aguda pré-B (LLA Pré-B) foi a doença maligna mais prevalente de 66 (33%), seguida por leucemia mieloide crônica (LMC) de 41 (20%) e leucemia linfocítica aguda de 29 (14%). A translocação foi o 50 mais prevalente (25%), seguido por hipotriploidia 14 (7%) e monossomia 8 (4%) na análise de aberração cromossômica. Além disso, a translocação t (9:22) encontrada foi de 20 (10%) na LMC, com a maioria na faixa etária (31-40 anos). Este estudo recomenda que o cariótipo deve ser testado com frequência em condições hematológicas porque pode fornecer informações sobre as alterações cromossômicas relativas associadas a doenças malignas específicas.

Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan / Anormalidades citogenéticas em pacientes com neoplasias hematológicas na cidade de Lahore, Paquistão

Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.

Resumo As neoplasias hematológicas e de células hematopoiéticas dos genes e as células hematopoiéticas estão associadas à mutação genética, geralmente em nível cromossômico. O estudo citogenético padrão é amplamente aceito como um dos principais determinantes diagnósticos e prognósticos em pacientes. Portanto, o presente estudo descritivo e transversal buscou determinar a análise citogenética de neoplasias hematológicas frequentes no Paquistão. Um total de 202 amostras de medula óssea periférica ou sangue de pacientes com malignidade hematológica benigna e maligna foi coletado usando uma técnica convencional de banda G. Entre os pacientes inscritos, a média de idade foi de 21,5 anos ± 23,4, e a distribuição por gênero mostrou uma marcada predominância da população masculina de 147 (73%) em comparação com a feminina de 55 (27%). Pacientes na faixa etária (2-10 anos) tiveram a maior frequência, 48 (24%), de neoplasias hematológicas, seguida da idade (11-20 anos) com 40 (20%). Cariótipos normais (46, XX / 46, XY) foram encontrados em 51% (n = 103) dos pacientes. Além disso, a frequência de cariótipo complexo foi de 30 (15%), enquanto normal foi observada em 171 (85%) pacientes. Leucemia linfoblástica aguda pré-B (LLA Pré-B) foi a doença maligna mais prevalente de 66 (33%), seguida por leucemia mieloide crônica (LMC) de 41 (20%) e leucemia linfocítica aguda de 29 (14%). A translocação foi o 50 mais prevalente (25%), seguido por hipotriploidia 14 (7%) e monossomia 8 (4%) na análise de aberração cromossômica. Além disso, a translocação t (9:22) encontrada foi de 20 (10%) na LMC, com a maioria na faixa etária (31-40 anos). Este estudo recomenda que o cariótipo deve ser testado com frequência em condições hematológicas porque pode fornecer informações sobre as alterações cromossômicas relativas associadas a doenças malignas específicas.

Associação entre a diversidade genética do hpv 16 e o prognóstico no câncer do colo do útero / Association between the genetic diversity of hpv 16 and the prognosis in cervical cancer

Introdução: O câncer do colo do útero (CCU) acontece em decorrência da infecção crônica e persistente por tipos oncogênicos do papilomavírus humano (HPV) na genitália feminina. Sua incidência ainda é alta em países em desenvolvimento como o Brasil, onde o diagnóstico muitas vezes é realizado em estádios avançados. O HPV 16 é o tipo mundialmente mais comum no CCU. O estudo da associação das diferentes linhagens do HPV 16 à sobrevida global e livre de doença do CCU pode contribuir na compreensão do comportamento das diferentes linhagens do HPV 16 em relação ao prognóstico. Objetivo: Avaliar o prognóstico de mulheres com câncer do colo do útero tratadas em uma Instituição brasileira, em relação às linhagens do HPV16. Métodos: Os dados desta análise são provenientes de uma coorte prospectiva de 334 mulheres com CCU tratadas no INCA (Rio de Janeiro) recrutadas entre julho de 2011 e março de 2014. A identificação das linhagens do HPV 16 foi realizada em amostra do tecido tumoral. A diversidade genética do HPV 16 foi representada por 218 casos da linhagem A, 10 da linhagem B, 10 da linhagem C e 96 da linhagem D. Além das linhagens do HPV 16, a idade, tipo histopatológico, estadiamento e completude de tratamento foram avaliados em relação ao prognóstico do CCU. Resultados: A idade mediana foi de 48 anos. O tipo histopatológico mais frequente foi o carcinoma epidermoide (82,3%), seguido do adenocarcinoma. O estadiamento com doença localmente avançada foi o mais comum nesta amostra, sendo representado por percentuais semelhantes nos estádios II e III (36,2% e 37,7%), seguido do estádio inicial I (19,2%) e pelo estadiamento IV, com doença à distância (6,9%). Apenas 187 mulheres completaram o tratamento. As variáveis idade, tipo histológico, estadiamento e completude de tratamento estiveram associadas com maior risco de morte, o que não ocorreu com a variável linhagem do HPV 16. Em relação à idade, a cada acréscimo de um ano de vida, houve aumento de aproximadamente 1% no risco de morte. Outros tipos histopatológicos (carcinoma pouco diferenciado, adenoescamoso, neuroendócrino e sarcoma) mostraram um maior risco de óbito em relação ao adenocarcinoma. O carcinoma epidermoide também representou maior risco de morte do que no adenocarcinoma, embora sem significância estatística. As mulheres diagnosticadas com estadiamento avançado tiveram maior risco de morte, e as que não completaram o tratamento aumentaram em mais de duas vezes o risco de morrer. Conclusão: Esse estudo não encontrou associação entre as linhagens A, B, C e D do HPV 16 e o prognóstico do CCU.

Introduction: Cervical cancer (CC) occurs as a result of chronic and persistent infection by the oncogenic type of human papillomavirus (HPV) in the female genitalia. Its incidence is still high in developing countries like Brazil, where the diagnosis is often performed in advanced stages. HPV 16 is the most common type in CC worldwide. Studying the association of different HPV 16 lineage with overall and disease-free survival in CC may contribute to understanding the behavior of different HPV 16 lineage in relation to prognosis. Objective: To evaluate the prognosis of women with cervical cancer treated at a Brazilian institution, in relation to HPV16 lineage A, B, C and D. Methods: The data from this analysis are from a prospective cohort of 334 women with CC treated at INCA (Rio de Janeiro) recruited between july 2011 and march 2014. Identification of HPV 16 lineage was performed on a sample of tumor tissue. The genetic diversity of HPV 16 was represented by 218 cases of the A lineage, 10 of the B lineage, 10 of the C lineage and 96 of the D lineage. In addition to the HPV 16 lineages; age, histopathological type, staging and completeness of treatment were evaluated in association with the prognosis of CC. Results: The median age was 48 years. The most frequent histopathological type was squamous cell carcinoma (82.3%), followed by adenocarcinoma. Staging with locally advanced disease was the most common in this sample, being represented by similar percentages in stages II and III (36.2% and 37.7%), followed by initial stage I (19.2%) and by stage IV, with distant disease (6.9%). Only 187 women completed the treatment. The variables age, histological type, staging and completion of treatment were associated with a higher risk of death, which did not occur with the variable HPV 16 lineage. Regarding age, with each increase of one year, there was an increase of approximately 1% in the risk of death. Other histopathological types (poorly differentiated, adenosquamous, neuroendocrine and sarcoma) showed a higher risk of death compared to adenocarcinoma. Squamous cell carcinoma also represented a higher risk of death than adenocarcinoma, although without statistical significance. Women diagnosed with advanced staging had a higher risk of death, and those who did not complete treatment increased their risk of dying by more than twice. Conclusion: This study found no association between HPV 16 lineage A, B, C and D and CC prognosis.

Nefronoptisis: reporte de un caso pediátrico / Nephronophthisis: a pediatric case report

La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.

Umbral del ciclo de amplificación del gen de la toxina B de Clostridioides difficile como predictor de gravedad / Clostridioides difficile toxin B gen amplification cycle threshold as a predictor of severity

INTRODUCCIÓN: La infección por Clostridioides dfficile (ICD) es la principal causa de diarrea nosocomial, generalmente asociada al consumo de antimicrobianos. Esta infección puede causar desde diarrea no complicada hasta colitis pseudomembranosa o megacolon tóxico. Estudios recientes han intentado relacionar el valor el ciclo umbral (Ct) de la RT-PCR con la mortalidad, como un método rápido, sencillo, objetivo y eficaz. OBJETIVO: Evaluar el Ct como predictor de mala evolución en pacientes con y sin criterio clínico de dicha gravedad. PACIENTES Y MÉTODOS: Realizamos un estudio retrospectivo entre enero 2015 y diciembre 2018, incluyendo todos los pacientes del área de referencia del Hospital Universitario de Canarias en Tenerife (396.483 habitantes) en pacientes con criterios clínicos de gravedad (de acuerdo a la Guía para la Práctica Clínica de la enfermedad por C. dfficile de la Sociedad de Epidemiología del Cuidado de la Salud de América (SHEA) y la Sociedad de Enfermedades Infecciosas de Norteamérica (IDSA) y pacientes sin criterios clínicos de gravedad evaluando el Ct como predictor de mala evolución. RESULTADOS: Se diagnosticó un total de 202 episodios de ICD. El 77,7% (n = 157) presentó criterios clínicos de gravedad. La presencia de colitis ulcerosa (p < 0,001), fiebre (p < 0,001), leucocitosis (p < 0,001), neutrofilia (p < 0,001), creatininemia (p = 0,005) se presentaron como factores de riesgo para el desarrollo de ICD grave. El sexo femenino, la institucionalización, el ingreso previo y el exitus se describieron con mayor frecuencia en el grupo con ICD-G, no encontrando diferencias significativas. No encontramos diferencias respecto a los días de estancia previa, o de estancia post-ICD, aunque en este último, la media fue mayor en el caso de los pacientes con ICD-G. No se encontraron diferencias significativas en cuanto al Ct en ambos grupos; siendo sólo un punto menor en pacientes con criterio de gravedad (Ct = 26,1) que sin criterios de gravedad (Ct = 27,4) (p = 0,326).

BACKGROUND: Clostridioides dfficile infection (CDI) is the main cause of nosocomial diarrhea, generally associated with the use of antibiotics. This infection can cause uncomplicated diarrhea to pseudomembranous colitis or toxic megacolon. Recent studies have attempted to relate the threshold cycle (Ct) value of RT-PCR with mortality, as a fast, simple, objective and efficient method. AIM: To evaluate Ct as a predictor of poor outcome in patients with C. dfficile disease with/without clinical signs of severity. METHODS: We carried out a retrospective study between January 2015 and December 2018, including all patients in the reference area of the Hospital Universitario de Canarias in Tenerife (396,483 inhabitants) in patients with clinical criteria of severity and patients without clinical severity criteria (according to the guide for the clinical practice of CDI of the Society of Healthcare Epidemiology of America (SHEA) and the Infectious Diseases Society of North America (IDSA). RESULTS: A total of 202 CDI episodes were diagnosed. 77.7% (n = 157) presented clinical severity criteria. The presence of ulcerative colitis (p < 0.001), fever (p < 0.001), leukocytosis (p < 0.001), neutrophilia (p < 0.001), creatininemia (p = 0.005) were presented as risk factors for the development of severe CDI (S-CDI). Female sex, institutionalization, previous admission and death were described more frequently in the group with S-CDI, not finding significant differences. We found no differences with respect to the days of previous stay, or of post-CDI stay, although in the latter, the mean was higher in the case of S-CDI patients. No significant differences were found in terms of Ct in both groups; being only one point lower in patients with severity criteria (Ct = 26.1) than without severity criteria (Ct = 27.4) (p = 0.326). CONCLUSION: Based on the results of our study, it has not been possible to systematically implement the Ct value as a predictor of severity to the clinical report, and it is not possible to extrapolate this predictive variable from S-CDI and standardize the Ct value as a predictor of severity. Conclusion: Basándonos en los resultados de nuestro estudio, no ha sido posible la implementación sistemática del valor Ct como predictor de gravedad al informe clínico, no siendo posible extrapolar esta variable predictora de enfermedad por C difficile-G y estandarizar el valor Ct como factor predictor de gravedad.

Quality of Life of Elderly People Living in Different Types of Long-term Care Facilities

Abstract Population aging is a worldwide occurrence that has become urgent in developing countries. Quality of life can be measured to identify functional capacity and determine the degree of impact on quality of life exerted on an individual. This study aimed to measure the quality of life of elderly people who have been living in different long-term care facilities for the elderly. Therefore, this research was developed with a qualitative and descriptive approach. Data were obtained from medical records and interviews, and were analyzed in R language interpreter software on the Ubuntu Linux operating system. Seventy-nine elderly people participated in the study. Eleven lived in Home Marista, and 68 lived in Home Jesus Maria José. A socioeconomic questionnaire was used to collect data on the socioeconomic characteristics of the participants. The Mini-Mental State Exam was used to measure degree of cognition. The Short Form-36 Questionnaire was used to measure quality of life. The present study suggests that the results found can clarify the individual vulnerability of the elderly in the age group studied regardless of the type of residence. Despite the discrepancy found regarding the care provided at the long-term care facilities, the scores, obtained with the quality of life assessment, did not show significant differences.

Actn3 gene polymorphism and factors associated with functional performance in elderly women assisted in primary health care / Polimorfismo do gene actn3 e os fatores associados ao desempenho funcional de idosas atendidas na atenção primária em saúde

ABSTRACT Objective: To analyze potential influences of the R/X genetic polymorphism of the ACTN3 gene, as well as of anthropometric and metabolic characteristics on the functional performance of elderly women assisted in primary health care. Method: One hundred and forty-one elderly women were assessed in terms of anthropometric, metabolic and functional aspects, in addition to clinical, cognitive and demographic characteristics. Allele and genotype frequencies of ACTN3 gene polymorphism were determined. Results: 141 elderly women (68.30 ± 6.18 years) were evaluated. No significant differences (p > 0.05) were observed between the RR and RX/XX genotypes in the elderly women's functional performance, anthropometric or metabolic characteristics. The TUG test completion time showed positive correlations with age, body mass index, waist circumference, and fat percentage (s = 0.315; p < 0.001; s = 0.238; p = 0.005; s = 0.174; p = 0.039; s = 0.207; p = 0.014), respectively. Negative correlations were found between the TUG test with absolute handgrip strength (s = - 0.314; p < 0.001) and relative handgrip strength (s = - 0.380; p < 0.001). Conclusion: In our study, there were no influences from ACTN3 gene polymorphisms on the functional performance of the elderly women, which is influenced by other factors.

RESUMO Objetivo: analisar as potenciais influências do polimorfismo genético R/X do gene ACTN3 e das características antropométricas e metabólicas no desempenho funcional de mulheres idosas atendidas na atenção primária em saúde. Método: Cento e quarenta e uma idosas foram avaliadas em relação as características antropométricas, metabólicas, funcionais, aspectos clínicos, cognitivos e demográficos. Foram determinadas as frequências de alelos e genótipos do polimorfismo do gene ACTN3. Resultados: 141 idosas (68,30 ± 6,18 anos) foram avaliadas. Não foram observadas diferenças significativas (p > 0,05) entre os genótipos RR e RX/XX no desempenho funcional, características antropométricas ou metabólicas das idosas. O tempo de realização do TUG apresentou correlações positivas com idade, índice de massa corporal, circunferência da cintura e percentual de gordura (s = 0,315; p < 0,001; s = 0,238; p = 0,005; s = 0,174; p = 0,039; s = 0,207; p = 0,014) respectivamente. Correlações negativas foram observadas entre o TUG com força de preensão manual absoluta (s = - 0,314; p < 0,001) e relativa (s = - 0,380; p < 0,001). Conclusão: Em nosso estudo, não foram observadas influências dos polimorfismos do gene ACTN3 no desempenho funcional das idosas, sendo este, influenciado por outros fatores.

Detection of respiratory viruses and expression of inflammatory cytokines in patients with acute exacerbation chronic obstructive pulmonary disease in Mongolia China / Detecção de vírus respiratórios e expressão de citocinas inflamatórias em pacientes com doença pulmonar obstrutiva crônica de exacerbação aguda na Mongólia, China

Chronic obstructive pulmonary disease (COPD) was estimated to be the third cause of global mortality by 2020. Acute exacerbation COPD (AECOPD) is a sudden worsening of COPD symptoms and could be due to virus/bacterial infections and air pollution. Increased expression of inflammatory markers in patients with AECOPD is associated with viral infection. This study aimed to detect different viruses and analyze the expression of various inflammatory markers associated with AECOPD patients. Three hundred and forty-seven patients diagnosed with COPD according to GOLD criteria were included in this study. Swab samples and blood were collected for the detection of viruses by RT-PCR and expression of inflammatory markers, respectively. Of the swab samples, 113 (32.6%) of samples were positive for virus detection. Of these, HRV (39.8%) was the predominant virus detected followed by FluB (27.4%) and FluA (22.1%). The presence of HRV was significantly higher (p=0.044) among the other detected viruses. When compared to healthy controls the expression levels of TNF-α, IL-6 and IL-8 were significantly higher (p<0.05) in virus-positive patients. The IL-6 and IL-8 were the next predominantly expressed in markers among the samples. The higher expression rate of IL-8 was significantly (p<0.05) associated with patients having COPD GOLD III severity level and smoking history. Although HRV was the predominant virus detected the combined prevalence of Influenza A and B surpassing the rate of HRV. The high-level expression of well known inflammatory markers of AECOPD, TNF-α, IL-6 and IL-8 indicates a chronic severe illness. These markers play an important role and could be used as a marker for determining the severity of AECOPD.

Estima-se que a doença pulmonar obstrutiva crônica (DPOC) seja a terceira causa de mortalidade global em 2020. A exacerbação aguda DPOC (AECOPD) é um agravamento súbito dos sintomas da DPOC e pode ser devido a infecções por vírus/bactérias e poluição do ar. O aumento da expressão de marcadores inflamatórios em pacientes com AECOPD está associado à infecção viral. Este estudo teve como objetivo detectar diferentes vírus e analisar a expressão de vários marcadores inflamatórios associados a pacientes com AECOPD. Trezentos e quarenta e sete pacientes com diagnóstico de DPOC de acordo com os critérios GOLD foram incluídos neste estudo. Amostras de swab e sangue foram coletadas para detecção de vírus por RT-PCR e expressão de marcadores inflamatórios, respectivamente. Das amostras de esfregaço, 113 (32,6%) amostras foram positivas para detecção de vírus. Nestas, o HRV (39,8%) foi o vírus predominante detectado, seguido do FluB (27,4%) e do FluA (22,1%). A presença de VFC foi significativamente maior (p = 0,044) entre os demais vírus detectados. Quando comparados a controles saudáveis, os níveis de expressão de TNF-α, IL-6 e IL-8 foram significativamente maiores (p <0,05) em pacientes com vírus positivo. A IL-6 e a IL-8 foram as próximas predominantemente expressas em marcadores entre as amostras. A maior taxa de expressão de IL-8 foi significativamente (p <0,05) associada a pacientes com grau de gravidade GOLD III da DPOC e história de tabagismo. Embora o HRV tenha sido o vírus predominante, a prevalência combinada de Influenza A e B ultrapassou a taxa de HRV. O alto nível de expressão de marcadores inflamatórios bem conhecidos de AECOPD, TNF-α, IL-6 e IL-8 indica uma doença crônica grave. Esses marcadores desempenham um papel importante e podem ser usados como um marcador para determinar a gravidade da AECOPD.

TNF-α levels and presence of SNP-308G/A of TNF-α gene in temporomandibular disorder patients

ABSTRACT Introduction: Temporomandibular disorder (TMD) refers to a group of conditions that compromise the harmonious movement and function of the temporomandibular joint, masticatory muscles, and associated structures. The etiopathogenesis of TMD is multifactorial but not well-understood, with the role of genetic factors still being unclear. Objective: This review aims to summarize the results of studies that evaluated TNF-α levels and the -308G/A TNF-α polymorphism in TMD patients. This study emphasizes the importance of a more selective treatment involving TNF-α inhibitors that can potentially reduce inflammation and pain, and improve quality of life. Methods: The MEDLINE/PubMed database, Cochrane Library, and Web of Science database were searched for case-control studies published until September 2020 that compared levels of TNF-α or presence of its -308G/A polymorphism in TMD patients and healthy individuals. Results: Six case-control studies were identified with a total of 398 TMD patients, aged between 12 and 78 years. The control group consisted of 149 subjects, aged between 18 and 47 years. The occurrence of TMD was predominant in females. Majority of studies found high TNF-α levels in TMD patients, compared to the control group. One of these studies found a positive correlation between the GA genotype and the development of TMD. Conclusion: Majority of the TMD patients showed elevated TNF-α levels, and a possible explanation for this could be the presence of the -308G/A polymorphism.

RESUMO Introdução: A disfunção temporomandibular (DTM) é definida como um grupo de alterações que comprometem a articulação temporomandibular, os músculos mastigatórios e as estruturas associadas. A etiopatogenia da DTM é multifatorial, e o papel dos fatores genéticos permanece obscuro. Objetivo: A presente revisão teve como objetivo descrever as contribuições de estudos que avaliaram os níveis de TNF-α e o polimorfismo -308 G/A em pacientes com DTM. Esse estudo enfatizou a importância de um tratamento mais completo envolvendo os inibidores do TNF-α que podem potencialmente reduzir a inflamação e a dor, contribuindo para melhorar a qualidade de vida do paciente. Métodos: As pesquisas foram realizadas nas bases de dados MEDLINE/PubMed, Cochrane Library e Web of Science, em busca de estudos de caso-controle publicados até setembro de 2020 que avaliassem os níveis de TNF-α e seu polimorfismo -308 G/A nos pacientes com DTM e em controles saudáveis. Resultados: Seis estudos de caso-controle foram identificados, com um total de 398 pacientes com DTM, e a idade variou de 12 a 78 anos. O grupo controle consistiu de 149 indivíduos e sua idade variou, aproximadamente, de 18 a 47 anos. O sexo feminino foi predominante. A maioria das pesquisas encontrou níveis elevados de TNF-α nos pacientes, em comparação com os controles. Um estudo encontrou uma associação positiva entre o genótipo GA e o desenvolvimento de DTM. Conclusão: A maioria dos pacientes com DTM demonstrou predisposição a uma maior produção de TNF-α, e isso poderia ser explicado pela presença do polimorfismo -308 G/A.

Characterization of metal(loid)s and antibiotic resistance in bacteria of human gut microbiota from chronic kidney disease subjects

BACKGROUND: Human Gut Microbiota (HGM) is composed of more than one thousand species, playing an important role in the health status of individuals. Dysbiosis (an HGM imbalance) is augmented as chronic kidney disease (CKD) progresses, as loss of kidney function accelerates. Increased antibiotic use in CKD subjects and consumption of nephrotoxic heavy metals and metalloids such as lead, cadmium, arsenic, and mercury in tap water increases the dysbiosis state. Studies in people with stage 3 CKD are complex to carry out, mainly because patients are self-reliant who rarely consult a specialist. The current work focused on this type of patient. RESULTS: Lead and arsenic-resistant bacteria were obtained from self-reliant (that stands on its own) stage 3 CKD subjects. Pathogen-related Firmicutes and Proteobacteria genus bacteria were observed. Resistance and potentiation of antibiotic effects in the presence of metal(loid)s in vitro were found. Furthermore, the presence of the following genes markers for antibiotic and metal(loid) resistance were identified by qPCR: oxa10, qnrB1, mphB, ermB, mefE1, arr2, sulll, tetA, floR, strB, dhfr1, acrB, cadA2k, cadA3k, arsC, pbrA. We observed a decrease in the number of metal resistance markers. CONCLUSIONS: The presence of cadA and arsC genetic markers of antibiotics and metal(loid)s resistance were detected in samples from stage 3 CKD subjects. Lower gene amplification in advanced stages of CKD were also observed, possibly associated with a decrease in resident HGM during kidney disease progression.

Chronic Lymphocytic Leukemia (CLL): evaluation of AKT protein kinase and microRNA gene expression related to disease pathogenesis

Abstract The present study evaluated 56 patients diagnosed with Chronic Lymphocytic Leukemia (CLL) and a control group of 44 clinically healthy subjects with no previous history of leukemia. Genetic expressions of AKT and microRNAs were evaluated by quantitative PCR (qPCR). A significant increase in AKT gene expression in patients when compared to controls was observed (p = 0.017). When the patients were stratified according to Binet subgroups, a significant difference was observed between the subgroups, with this protein kinase appearing more expressed in the B+C subgroup (p = 0.013). Regarding miRNA expression, miR-let-7b and miR-26a were reduced in CLL patients, when compared to controls. However, no significant differences were observed in these microRNA expressions between the Binet subgroups (A versus B+C). By contrast, miR-21 to miR-27a oncogenes showed no expression difference between CLL patients and controls. AKT protein kinase is involved in the signaling cascade that occurs with BCR receptor activation, leading to increased lymphocyte survival and protection against the induction of cell death in CLL. Thus, increased AKT protein kinase expression and the reduction of miR-let-7b and miR-26a, both tumor suppressors, may explain increased lymphocyte survival in CLL patients and may be promising markers for the prognostic evaluation of this disease.

Hiperqueratosis plantar / Plantar hyperkeratosis

RESUMEN La hiperqueratosis es un trastorno caracterizado por el engrosamiento de la capa externa de la piel, que está compuesta de queratina, una fuerte proteína protectora. Puede ser causada por fricción, conllevando la aparición de callosidades, inflamación crónica, eccema o trastornos genéticos, como la ictiosis ligada al cromosoma X. Se presentó el caso de un paciente de 47 años, que acudió al Servicio de Ortopedia por lesión escamosa a nivel de ambas regiones plantares con dificultad para la marcha. El tratamiento quirúrgico fue el empleado en este paciente para la obtención de la biopsia exerética. La evolución fue favorable en el postoperatorio mediato e inmediato, y el paciente se incorporó de forma rápida a su vida normal. Con este caso se identificaron las características clínicas de la hiperqueratosis plantar, así como el uso de la biopsia exerética como estándar de oro para el diagnóstico positivo en los tumores periféricos. Un diagnóstico adecuado por el médico inicial, la interrelación del Servicio de Ortopedia con la consulta de tumores periféricos, y el tratamiento quirúrgico seleccionado, constituyen factores determinantes en la evolución favorable de los pacientes con este diagnóstico (AU).

ABSTRACT Hyperkeratosis is a disorder characterized by thickening of the outer layer of the skin, which is composed of keratin, a strong protective protein. It can be caused by friction, leading to callosities, chronic inflammation, eczema or genetic disorders such as X chromosome-linked ichthyosis. We presented the case of a patient, aged 47 years, who attended the Orthopedic Service for scaly lesion at the level of both plantar regions with difficulties to walk. Surgical treatment was used in this patient to obtain an exeretic biopsy. The evolution was favorable in both the mediate and immediate postoperative period, and the patient quickly returned to his normal life. This case identified the clinical characteristics of plantar hyperkeratosis and the use of exeretic biopsy as a gold standard for positive diagnosis in the peripheral tumors. An adequate diagnosis by the initial physician, the interrelation of the orthopedic service with the consultation of peripheral tumors, and the chosen surgical treatment are determining factors in the favorable evolution of patients with this diagnosis (AU).

Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center / Síndrome hemolítica urêmica atípica genética em crianças: uma experiência de 20 anos a partir de um centro terciário

Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study's aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.

Resumo Introdução: A síndrome hemolítica urêmica atípica (SHUa) é um distúrbio raro caracterizado pela tríade de anemia hemolítica microangiopática, trombocitopenia e lesão renal aguda, afetando principalmente crianças em idade pré-escolar. O objetivo deste estudo foi descrever perfil clínico, manejo e desfecho em longo prazo dos pacientes com SHUa genética admitidos em um centro terciário de nefrologia pediátrica durante 20 anos. Métodos: Realizamos análise retrospectiva dos registros clínicos de todos os pacientes com SHUa menores de 18 anos com mutações genéticas identificadas. Revisaram-se dados sobre características clínicas, estudo genético, intervenções terapêuticas e desfechos em longo prazo. Resultados: Incluíram-se cinco casos de SHUa com uma mutação genética identificada; sendo todos casos inaugurais, o mais jovem tendo 4 meses de idade. A mutação no gene do fator H do complemento foi identificada em quatro pacientes. Plasmaférese terapêutica foi realizada para tratamento agudo em 4 pacientes, um dos quais também necessitou terapia renal substitutiva aguda (diálise peritoneal). Todos os pacientes tiveram remissão completa, 2 mais de uma recidiva, mas apenas 1 evoluiu para doença renal crônica durante acompanhamento (mediana (percentil 25°-75°), 136 (43,5-200,5) meses). Conclusão: Em crianças, o prognóstico da função renal parece ser fortemente dependente do histórico genético, sendo crucial realizar estudo genético em todos os casos de SHUa. Em nossa coorte, 2 pacientes apresentaram mutações genéticas não descritas anteriormente. Inovações recentes no campo genético que levaram à identificação de novas mutações conduziram a um melhor entendimento da patogênese SHUa, mas são necessários mais estudos, focando na correlação genótipo-fenótipo, com períodos de acompanhamento mais longos.

Treinamento com Exercício Físico e Doença de Chagas: Função Potencial dos MicroRNAs / Physical Exercise Training and Chagas Disease: Potential Role of MicroRNAs

Resumo A doença de Chagas (DC) é causada pelo Trypanosoma Cruzi. Esse parasita pode infectar vários órgãos do corpo humano, especialmente o coração, causando inflamação, fibrose, arritmias e remodelação cardíaca, e promovendo a cardiomiopatia chagásica crônica (CCC) no longo prazo. Entretanto, poucas evidências científicas elucidaram os mecanismos moleculares que regulam os processos fisiopatológicos nessa doença. Os microRNAs (miRNAs) são reguladores de expressão gênica pós-transcricional que modulam a sinalização celular, participando de mecanismos fisiopatológicos da DC, mas o entendimento dos miRNAs nessa doença é limitado. Por outro lado, há muitas evidências científicas demonstrando que o treinamento com exercício físico (TEF) modula a expressão de miRNAs, modificando a sinalização celular em indivíduos saudáveis. Alguns estudos também demonstram que o TEF traz benefícios para indivíduos com DC, porém esses não avaliaram as expressões de miRNA. Dessa forma, não há evidências demonstrando o papel do TEF na expressão dos miRNAs na DC. Portanto, essa revisão teve o objetivo de identificar os miRNAs expressos na DC que poderiam ser modificados pelo TEF.

Abstract Chagas disease (CD) is caused by Trypanosoma Cruzi. This parasite can infect several organs of the human body, mainly the heart, causing inflammation, fibrosis, arrhythmias, and cardiac remodeling, promoting long-term Chronic Chagas Cardiomyopathy (CCC). However, little scientific evidence has elucidated the molecular mechanisms that govern the pathophysiological processes in this disease. MicroRNAs (miRNAs) are regulators of post-transcriptional gene expression that modulate signaling pathways, participating in pathophysiological mechanisms in CD, but the understanding of miRNAs in this disease is limited. On the other hand, a wide range of scientific evidence shows that physical exercise training (PET) modulates the expression of miRNAs by modifying different signaling pathways in healthy individuals. Some studies also show that PET is beneficial for individuals with CD; however, these did not evaluate the miRNA expressions. Thus, there is no evidence showing the role of PET in the expression of miRNAs in CD. Therefore, this review aimed to identify miRNAs expressed in CD that could potentially be modified by PET.

Fenotipos clínicos de la enfermedad pulmonar obstructiva crónica en los pacientes atendidos en el Hospital neumológico de La Habana / Clinical phenotypes of chronic obstructive pulmonary disease in patients treated at the Hospital Neumológico de La Habana

Introducción: La identificación de los fenotipos clínicos son claves en la modulación de la expresión clínica, para un tratamiento integrado de la EPOC. Objetivos: Caracterizar los fenotipos clínicos de la EPOC en los pacientes atendidos en el Hospital Neumológico Benéfico Jurídico. Métodos:Se realizó un estudio observacional descriptivo retrospectivo, en 172 pacientes con diagnóstico de EPOC, en el Hospital Neumológico Benéfico Jurídico durante el año 2017.Resultados: El 38,4 % de los pacientes tenían edad entre 70-79 años. Del total de pacientes, el 54,6 % eran del sexo masculino. El 52,9 % eran fumadores activos y el 41,3 % exfumadores. Aunque las diferencias no fueron significativas, la edad avanzada y el sexo masculino fueron más frecuentes en el fenotipo enfisematoso agudizador y agudizador bronquítico crónico. El tabaquismo activo fue más frecuente en el fenotipo enfisematoso agudizador. Todos los pacientes con el fenotipo agudizador bronquítico crónico tuvieron dos o más exacerbaciones, mientras que el enfisematoso agudizador se relacionó con una severidad grave de la EPOC (46,7 %). Conclusiones: El sexo masculino y la edad avanzada muestran una tendencia a relacionarse con el fenotipo enfisematoso agudizador y agudizador bronquítico crónico, mientras que el tabaquismo activo es más frecuente en el fenotipo enfisematoso agudizador. El fenotipo agudizador bronquítico crónico se relaciona con mayores exacerbaciones y el enfisematoso agudizador con una mayor severidad de la EPOC.

Introduction: The identification of clinical phenotypes are key in the modulation of clinical expression, for an integrated treatment of COPD. Objectives: To characterize the clinical phenotypes of COPD in patients treated at the Hospital Neumológico Benéfico Jurídico. Methods: A retrospective descriptive observational study was carried out in 172 patients with a diagnosis of COPD at the Hospital Neumológico Benéfico Jurídico in 2017. Results: 38.4 % of the patients were between 70-79 years of age. Of the total number of patients, 54.6 % were male. 52.9 % were active smokers and 41.3 % ex-smokers. Although the differences were not significant, advanced age and male sex were more frequent in the exacerbator emphysematous and chronic bronchial exacerbator phenotype. Active smoking was more frequent in the exacerbating emphysematous phenotype. All patients with the chronic bronchial exacerbator phenotype had two or more exacerbations, while exacerbation emphysematous was associated with severe severity of COPD (46.7 %). Conclusions: Male sex and advanced age show a tendency to be related to the exacerbating emphysematous phenotype and chronic bronchitis exacerbator, while active smoking is more frequent in the exacerbating emphysematous phenotype. The chronic bronchitis exacerbator phenotype is related to greater exacerbations and exacerbation emphysematous with a greater severity of COPD

Enfermedad granulomatosa crónica: fisiopatología genética y molecular. Pruebas diagnósticas vigentes / Chronic granulomatous disease: genetic and molecular pathophysiology. Effective diagnostic tests

Introducción: La enfermedad granulomatosa crónica es una inmunodeficiencia primaria congénita del sistema inmune innato, originada por defectos en el complejo enzimático nicotinamida adenina dinucleótido fosfato oxidasa presente en células fagocíticas. Estos defectos funcionales causan incapacidad para producir especies reactivas del oxígeno en los fagocitos, que afectan la eliminación de algunos microorganismos patógenos dentro del fagolisosoma. El diagnóstico de esta enfermedad se realiza actualmente mediante la prueba de 1,2,3-dihidrorodamina asistida por citometría de flujo multiparamétrica, o la tinción de fagocitos con nitroazul de tetrazolio asistida por microscopio óptico. Objetivos: Describir los aspectos fisiopatológicos y moleculares de la enfermedad granulomatosa crónica; y discutir aspectos relacionados con las pruebas de diagnóstico antes mencionadas. Métodos: Se realizó una investigación bibliográfica-documental a partir de artículos científicos publicados desde 1933 hasta 2018, para ello fueron consultadas las bases de datos SciELO, PubMed y Springer. Desarrollo: Se exponen las características fisiopatológicas de la enfermedad granulomatosa crónica, así como la relación entre las mutaciones genéticas más abundantes en la población afectada y la gravedad de las manifestaciones clínicas que presentan los pacientes. Además, se analizan críticamente los beneficios y las deficiencias de dos técnicas que se utilizan actualmente para diagnosticar la enfermedad. Conclusiones: La enfermedad granulomatosa crónica puede generar consecuencias inmunológicas e inflamatorias graves, que se hallan en consonancia con las características genéticas expresadas en el complejo enzimático dañado. El diagnóstico de la enfermedad resulta más confiable, exhaustivo y específico, mediante la citometría de flujo y su prueba de 1,2,3-dihidrorodamina(AU)

Introduction: Chronic granulomatous disease is a congenital primary immunodeficiency of the innate immune system, caused by defects in the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex present in phagocytic cells. These functional defects cause inability to produce reactive oxygen species in phagocytes, affecting the elimination of some pathogenic microorganisms within the phagolysosome. The diagnosis of this disease is currently made by means of the 1,2,3-dihydrorodamine test assisted by multiparametric flow cytometry, or the staining of phagocytes with nitro-blue tetrazolium assisted by light microscopy. Objectives: To characterize molecular and pathophysiologically the chronic granulomatous disease; and to discuss aspects related to the aforementioned diagnostic tests. Methods: In this work, a bibliographic-documentary research was carried out from scientific articles published from 1933 to 2018, for which the SciELO, PubMed and Springer databases were consulted. Development: The pathophysiological characteristics of chronic granulomatous disease are exposed, as well as the relationship between the most abundant genetic mutations in the affected population, and the severity of the clinical manifestations presented by the patients. In addition, the benefits and deficiencies of two techniques currently used to diagnose the disease are critically analyzed. Conclusions: Chronic granulomatous disease can generate severe immunological and inflammatory consequences, which are in line with the genetic characteristics expressed in the damaged enzyme complex. The diagnosis of the disease is more reliable, exhaustive and specific, using flow cytometry and its 1,2,3-dihydrorodamine test(AU)

Evaluación del estado nutricional en población infantil del municipio de Pasto, Colombia / Evaluation of the nutritional state of children in Pasto municipality, Colombia

Introducción: En el campo de la salud pública la tendencia es priorizar el tema de la vigilancia nutricional en la población, a través del monitoreo del comportamiento del estado nutricional. Objetivo: Evaluar la situación nutricional en menores de 18 años del municipio Pasto en el periodo 2014-2016. Métodos: Estudio observacional-descriptivo de la situación nutricional de la población de estudio, reportada en las bases de datos de la Secretaría de Salud Municipal de Pasto-Colombia. Resultados: Se analizaron 158 614 registros, de los cuales 40,82 por ciento fueron de menores de 5 años y 9,18 por ciento en edades entre 5-18 años. Respecto a la desnutrición global se encontró que 18,9 por ciento de los menores fueron diagnosticados en riesgo: 7,2 por ciento con desnutrición global aguda y 0,7 por ciento con desnutrición global severa. Para la desnutrición aguda 10,4 por ciento tuvo diagnóstico de riesgo, 4,8 por ciento desnutrición aguda y 0,8 por ciento desnutrición aguda severa. En la estimación de desnutrición crónica 30,9 por ciento de los niños presentó riesgo de retardo en el crecimiento y 13,05 por ciento retardo en el crecimiento. El 16,7 por ciento de la población tuvo sobrepeso, 4,2 por ciento obesidad, 10,6 por ciento riesgo de delgadez y 2,7 por ciento delgadez. Conclusiones: De acuerdo con la Encuesta Nacional de la Situación Nutricional en Colombia, la desnutrición disminuyó en el país entre los años 2010 a 2015. Sin embargo, aún existe desnutrición en el municipio de Pasto que, junto al aumento de la tasa de sobrepeso y obesidad en niños y adolescentes, representa una situación de malnutrición, que podría verse reflejada en importantes problemas para la salud por la generación de enfermedades crónicas a la que conlleva(AU)

Introduction: In the field of public health, the tendency is to prioritize the issue of nutritional surveillance in the population, through the monitoring of the nutritional state´s behavior. Objective: Assess the nutritional state of children under 18 years old in Pasto municipality in the period 2014-2016. Methods: Observational-descriptive study of the studied population´s nutritional state reported in the databases of the Municipal Health Secretariat of Pasto-Colombia. Results: 158 614 records were analyzed, of which 40.82 percent were children under 5 years and 9.18 percent in ages between 5 and 18 years. Regarding global malnutrition, 18.9 percent of children were diagnosed at risk: 7.2 percent with acute global malnutrition and 0.7 percent with severe global malnutrition. For acute malnutrition, 10.4 percent had a risk diagnosis, 4.8 percent acute malnutrition and 0.8 percent severe acute malnutrition. In the estimate of chronic malnutrition, 30.9 percent of the children presented risk of growth retardation and 13.05 percent growth retardation. 16.7 percent of the population were overweight, 4.2 percent obese, 10.6 percent risk of thinness and 2.7 percent thinness. Conclusions: According to the National Survey of the Nutritional Situation in Colombia, malnutrition decreased in the country between 2010 and 2015. However, there is still malnutrition in Pasto municipality which, together with the increase in the rate of overweight and obesity in children and adolescents, represents a situation of malnutrition, which could be reflected in major health problems from the generation of chronic diseases to which it leads(AU)

Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task / Triagem de familiares de pacientes com doença renal crônica com mutação na doença de Fabry: uma tarefa muito importante e subestimada

ABSTRACT Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named "Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil". Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

RESUMO Introdução: A doença de Fabry é uma condição hereditária crônica, progressiva e multissistêmica, relacionada a uma mutação Xq22 no cromossomo X, que resulta em deficiência da enzima alfa-galactosidase, diminuindo a capacidade de degradação da globotriaosilceramida. Objetivos: avaliar a prevalência de mutações na doença de Fabry, bem como seus sinais e sintomas, em familiares de pacientes com doença renal crônica (DRC) diagnosticados com DF durante um estudo realizado anteriormente, denominado "Análise clínica e epidemiológica da doença de Fabry em centros de diálise no Brasil". Métodos: foi realizado um estudo transversal e os dados foram coletados através da entrevista com familiares de pacientes inscritos no Projeto Rim Fabry Brasil e exames de sangue para dosagem de Gb3 e testes genéticos. Resultados: Dos 1,214 familiares entrevistados, 115 (9,47%) foram diagnosticados com DF, com predomínio de mulheres (66,10%). As comorbidades mais prevalentes foram condições reumatológicas e hipertensão arterial sistêmica (1,7% cada), seguidas por doenças cardíacas, neurológicas, cerebrovasculares e depressão em 0,9% dos indivíduos. Intolerância ao exercício físico e cansaço foram os sintomas mais observados (1,7%), seguidos de febre periódica, intolerância ao calor ou ao frio, dor difusa, sensação de queimação ou dormência nas mãos e nos pés, sudorese reduzida ou ausente, além de dor abdominal após refeições em 0,9%. Conclusão: Encontramos uma prevalência da doença de Fabry em 9,47% dos familiares de pacientes com DRC com essa condição, notadamente com uma predominância de 66,1% de mulheres, o que contrasta com relatos anteriores. A triagem de familiares de pacientes com DF é importante, pois pode levar ao diagnóstico e tratamento precoces, permitindo melhor qualidade de vida e melhores resultados clínicos para esses indivíduos.