Nocardiosis diseminada a punto de partida de infeccion de piel y partes blandas. Serie de casos de un centro de tercer nivel / Disseminated nocardiosis at the starting point of skin and soft parts infection. Series of cases from a third level center

Nocardia es una bacteria grampositiva con amplia distribución en el medio ambiente. Puede producir variadas de infecciones. Si bien, las vías respiratorias son la principal puerta de entrada de Nocardia sp. ­y como consecuencia de lo mismo 50% de los pacientes posee compromiso pulmonar- las infecciones por Nocardia van desde infecciones de piel y partes blandas hasta abscesos cerebrales. La piel puede ser el órgano de afectación primaria y el primer signo clínico de infección o formar parte de una infección diseminada. La nocardiosis diseminada, es una grave enfermedad que involucra a dos sitios no contiguos de infección o el rescate del agente causal en hemocultivos. Afecta a pacientes debilitados con condiciones o con cierto grado de inmunodepresión; particularmente de inmunidad celular; como trasplantados de órganos sólido o hematopoyeticos, uso de corticoides, neoplasias, VIH, alcoholismo ­aunque se describen infecciones en pacientes inmunocompetentes­. El diagnóstico es dificultoso y la sospecha clínica es fundamental para el inicio de la terapéutica. Se describen dos casos de infecciones de piel y partes blandas ocasionadas por Nocardia; de evolución subaguda-cronica;. Una de ellas localizada: micetoma de pie, la segunda, una celulitis abdominal recurrente complicada con compromiso sistémico; en ambas estuvo presente la demora en el diagnóstico.

Nocardia is a gram-positive bacteria with wide distribution in the environment. It can cause a wide range of infections. Although the respiratory tract is the main entry point for Nocardia sp. ­ and as a consequence of the same, 50% of patients have lung involvement ­ nocardia infections range from skin and soft tissue infections to brain abscesses. The skin can be the primary organ of involvement and the first clinical sign of infection or be part of a disseminated infection, secondary to a primary pulmonary form. Disseminated nocardiosis is a serious disease that involves two non-contiguous sites of infection or the recovery of the causative agent in blood cultures. It commonly affects patients with weakened conditions or a certain degree of immunosuppression; particularly cellular immunity, such as solid or hematopoietic organ transplants, use of corticosteroids, neoplasms, HIV, alcoholism - although infections are described in immunocompetent patients. The diagnosis is difficult and clinical suspicion is essential for the initiation of therapy. Two cases of skin and soft tissue infections caused by Nocardia were described of subacute-chronic evolution. One of them localized: mycetoma of the foot, the second, a recurrent abdominal cellulites complicated with systemic involvement; Delay in diagnosis was present in both

Perfil clínico e epidemiológico de gestantes que vivem com HIV na Macrorregião Sul de Saúde de Santa Catarina / Clinical and epidemiological profile of pregnant women living with HIV in the Southern Health Macroregion of Santa Catarina

Objetivo: Nos últimos anos, a epidemia de HIV tem incidido consideravelmente e de forma silenciosa na população de mulheres gestantes, sobretudo devido à subnotificação, ao diagnóstico tardio e à negligência quanto à realização de teste anti-HIV pelas infectadas. Diante disso, este estudo tem por objetivo descrever o perfil clínico e epidemiológico de gestantes que vivem com HIV na Macrorregião Sul de Saúde de Santa Catarina. Métodos: Trata-se de um estudo ecológico, ana- lítico, retrospectivo, com base em dados secundários retirados das plataformas Sistema de Informações de Agravos de Notificação (Sinan) e Sistema de Monitora- mento Clínico das Pessoas Vivendo com HIV/AIDS (SIMC), acerca de gestantes que vivem com HIV na Macrorregião Sul de Saúde de Santa Catarina, no período entre 2019 e 2022. Resultados: A partir dos dados sociodemográficos, obteve-se um perfil epidemiológico prevalente de mulheres com idade entre 30 e 49 anos, brancas, com baixo nível de escolaridade e entre 1 a 13 semanas de gestação no momento da notificação de infecção por HIV. O perfil clínico apontou para a prevalência de mulheres em uso de terapia antirretroviral, com carga viral acima de 1.000 cópias/ mL e contagem de linfócitos T-CD4+ superior a 350 células/mm3. Conclusão: Apesar do baixo nível de escolaridade e da elevada carga viral, o resultado foi positivo para a população selecionada, uma vez que foi demonstrada boa adesão ao tra- tamento e alta contagem de linfócitos, sendo esses bons preditores de evolução clínica para o HIV.

Objective: In recent years, the HIV epidemic has significantly and silently affected the population of pregnant women, mainly due to underreporting, late diagnosis, and neglect of HIV testing among infected individuals. In light of this, the aim of this study is to describe the clinical and epidemiological profile of pregnant women living with HIV in the Southern Health Macroregion of Santa Catarina. Methods: This is an ecological, analytical, retrospective study based on secondary data retrieved from the Notifiable Diseases Information System (Sinan) and the Clinical Monitoring System for People Living with HIV/ AIDS (SIMC), regarding pregnant women living with HIV in the Southern Health Macroregion of Santa Catarina from 2019 to 2022. Results: Based on sociodemographic data, a prevalent epidemiological profile was identified, with women aged 30 to 49 years, white, with low educational level, and between 1 to 13 weeks of gestation at the time of HIV infection notifica- tion. The clinical profile revealed a prevalence of women on antiretroviral therapy, with a viral load above 1,000 copies/ mL and a T-CD4+ lymphocyte count above 350 cells/mm3. Conclusion: Despite the low educational level and high viral load, the outcome was positive for the selected population, as good treatment adherence and high lymphocyte count were demonstrated, both of which are good predictors of clinical progression for HIV.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Factores asociados al diagnóstico tardío del Trastorno del Espectro Autista / Factors associated with delayed diagnosis of Autism Spectrum Disorder

El trastorno del espectro autista (TEA) es una condición crónica del neurodesarrollo caracterizada por déficits persistentes en la comunicación e interacción social y un patrón de intereses restringidos y/o comportamientos repetitivos que pueden afectar el funcionamiento del individuo en la vida diaria familiar y comunitaria. El diagnóstico oportuno intenta mejorar la trayectoria, reducir el impacto funcional y disminuir los efectos de condiciones médicas asociadas. El diagnóstico tardío de TEA es considerado como aquel realizado luego de los 6 años de edad, en coincidencia con el fin de la escolaridad inicial. Si bien esta edad puede resultar arbitraria lo que se busca es una generalización de aquellos casos en los que probablemente hubo múltiples pérdidas de oportunidades diagnósticas y terapéuticas. Objetivo: Reflexionar sobre los determinantes del diagnóstico tardío del TEA con el fin de proponer posibles soluciones a esta problemática. Desarrollo: A partir de tres viñetas clínicas de pacientes que recibieron el diagnóstico en nuestro servicio, luego de los 6 años de edad, nos proponemos identificar y analizar aquellos factores (motivos sociodemográficos, problemas organizacionales, en la etapa de evaluación diagnóstica, respecto al género, cuidadores/ familiares y características clínicas) que determinan la demora diagnóstica. Conclusiones: El diagnóstico tardío del TEA es una problemática compleja y multifactorial, que implica desafíos significativos en el desarrollo de los NNyA con esta condición, sus familias y su entorno. Es importante considerar las causas que demoran el diagnóstico, desde el ámbito clínico, familiar y socio-ambiental para poder intervenir oportunamente (AU)

Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition characterized by persistent deficits in communication and social interaction and a pattern of restricted interests and/or repetitive behaviors that can affect the individual's daily functioning both at home and in the community. Early diagnosis is important to improve the developmental trajectory, reduce functional impairment, and decrease the impact of comorbid medical conditions. Delayed diagnosis of ASD is defined as a diagnosis made after the age of 6 years, coinciding with the end of preschool. Although this age may be arbitrary, it serves to encompass cases in which there were probably multiple missed diagnostic and therapeutic opportunities. Objective: To explore the causes of late diagnosis of ASD in order to propose possible solutions to this problem. Development: Based on three clinical vignettes of patients who were diagnosed at our department after 6 years of age, we aimed to identify and analyze factors influencing diagnostic delays. These factors included sociodemographic causes, organizational challenges, issues during the diagnostic workup, considerations related to gender, caregivers/families, and clinical characteristics. Conclusions: Delayed diagnosis of ASD is a complex and multifactorial problem leading to significant challenges in the development of children and adolescents with this condition as well as their families and their environment. Identification of the causes of diagnostic delay is important from the clinical, family and socio-environmental point of view, in order to start timely interventions (AU)

Causa inusual de obstrucción traqueal: linfoma de células B no Hodgkin / Unusual cause of tracheal obstruction: B cell non-Hodgkin lymphoma

Las neoplasias de la tráquea son poco comunes, siendo más infrecuente aún el linfoma de células B no Hodgkin a este nivel. La presentación clínica de esta entidad es muy variable y sus síntomas son muy inespecíficos, simulando varias enfermedades, generando así un diagnóstico tardío. Actualmente se dispone de varias ayudas diagnósticas que permiten descartar otras patologías y confirmar la neoplasia traqueal, además la biopsia es fundamental para llegar al diagnóstico final y así instaurar el manejo en estadios tempranos, para impactar en la morbimortalidad. A continuación presentamos el caso de una paciente con linfoma de células B no Hodgkin como causa de obstrucción traqueal.

Tracheal neoplasms are uncommon, with non-Hodgkin B-cell lymphoma being even rarer at this level. The clinical presentation of this entity is highly variable and its symptoms are very non-specific, simulating several diseases, thus generating a late diagnosis. Currently, there are several diagnostic aids that allow us to rule out other pathologies and confirm tracheal neoplasia, in addition, biopsy is essential to reach the final diagnosis and thus establish management in early stages to impact morbidity and mortality. We present the case of a patient with non-Hodgkin's B-cell lymphoma as a cause of tracheal obstruction.

Diagnóstico tardío de VIH: diferencias entre nativos y migrantes internacionales. Estudio observacional en un hospital de la Ciudad Autónoma de Buenos Aires / Late diagnosis of HIV-infection: differences between natives and international migrants. Observationalstudy in a hospital of Ciudad Autónoma de BuenosAires

ntroducción: El diagnóstico tardío de la infección por VIH y el acceso de los pacientes con enfermedad avanzada al sistema de salud afectan negativamente los beneficios in-dividuales y colectivos del tratamiento antirretroviral. A nivel mundial existe una alta prevalencia de diagnóstico tardío es-pecialmente en poblaciones vulnerables como los migrantes.Objetivos: Medir la prevalencia de diagnóstico tardío de infección por VIH entre migrantes internacionales y com-pararla con la de los argentinos.Material y métodos: Estudio retrospectivo, observacional, de personas mayores de 16 años asistidas en el Hospital General de Agudos Donación Francisco Santojanni que hubieran recibido diagnóstico de infección por VIH entre 01/1/2018 y el 31/12/2021. Se determinó la mediana de recuento de CD4 basal y la prevalencia de diagnóstico tar-dío. Aplicamos la prueba de la suma de rangos de Wilcoxon para la variable contínua y la prueba de Fisher para com-parar proporciones.Resultados: Incluimos 199 personas (52 migrantes, 147 argentinos). Los migrantes presentaron un nivel basal de linfocitos CD4 significativamente menor [Mediana (RIC 25-75) 248 (79-466) vs. 331 (166-532); p=0,044], mayor tasa de presentación tardía [69,2% vs. 54,4%; RR 1,27 (IC95 1,01-1,61); p=0,072] y con sida [44,2% vs. 30,6%; RR 1,44 (IC95 0,98-2,13); p=0,089] y una menor proporción de diagnós-ticos en etapa temprana [13,5% vs. 29,3%; RR 0,46 (IC95 0,22-0,96); p=0,026].Conclusiones: Los migrantes internacionales accedieron al diagnóstico en peor estado clínico que los argentinos. Conocer este dato es imprescindible para elaborar políti-cas tendientes a mejorar el acceso al diagnóstico de esta población vulnerable.

Introduction: The late diagnosis of HIV infection and the access of patients to health system with advanced disease negatively affect the individual and collective benefits of antiretroviral treatment. There is a worldwide high prevalence of late diagnosis, specially in vulnerable populations, such as migrants.Objectives: to measure the prevalence of late diagnosis of HIV infection among international migrants and compare it with the people born in Argentina.Material and methods: retrospective and observational study of people over 16 years old, assisted at the Donación Francisco Santojanni General Hospital, who had received a diagnosis of HIV infection between 01-01-2018 and 12-31-2021. The median baseline CD4 cell count and the prevalence of late diagnosis were determined. We applied the Wilcoxon rank sum test for the continuous variable and the Fisher test to compare proportions.Results: 199 subjects (52 migrants, 147 Argentinians) were included. Migrants presented a significantly lower baseline CD4 cell count [Median (IQR 25-75) 248 (79-466) vs 331 (166-532); p=0.044], a higher rate of late presentation [69.2% vs 54.4%; RR 1.27 (CI95 1.01-1.61); p=0.072], presentation with aids [44.2% vs 30.6%; RR 1.44 (CI95 0.98-2.13); p=0.089]; and a lower proportion of early stage presentation [13.5% vs 29.3%; RR 0.46 (CI95 0.22-0.96); p=0.026].Conclusions: international migrants accessed to the diagnosis in a worse clinical condition than Argentinians. Knowing this information is essential for the development of policies aimed to improve the access to diagnosis of this vulnerable population

Osteomielitis primaria de esternón / Primary sternal osteomyelitis

La osteomielitis primaria de esternón es muy infrecuente en niños, con menos de 100 casos publicados hasta la actualidad. Su presentación clínica es a menudo inespecífica, lo que causa un retraso en el diagnóstico. Se presentan dos nuevos casos de osteomielitis primaria de esternón. Ambos referían un cuadro de fiebre, malestar general, dolor torácico y rechazo del decúbito, con eritema preesternal en uno de los casos. La velocidad de sedimentación globular y la proteína C-reactiva estaban elevadas en ambos casos. El diagnóstico se confirmó mediante estudios de imagen y en un caso se aisló Staphylococcus aureus sensible a meticilina en el hemocultivo. Ambos se recuperaron sin complicaciones con tratamiento antibiótico. Debe tenerse en cuenta la osteomielitis primaria de esternón en el diagnóstico diferencial del dolor torácico, especialmente si se acompaña de fiebre, signos inflamatorios locales, intolerancia al decúbito o elevación de reactantes de fase aguda.

Primary sternal osteomyelitis is very rare in children, with less than 100 cases published to date. Its clinical presentation is often non-specific, which results in a diagnostic delay. Here we describe 2 new cases of primary sternal osteomyelitis. Both referred fever, malaise, chest pain, and refusal to lie down, with pre-sternal erythema in one of the cases. The erythrocyte sedimentation rate and C-reactive protein values were high in both cases. The diagnosis was confirmed by imaging studies; methicillin-sensitive Staphylococcus aureus was isolated in the blood culture of one of them. Both recovered without complications with antibiotic treatment. Primary sternal osteomyelitis should be considered in the differential diagnosis of chest pain, especially if accompanied by fever, local inflammatory signs, intolerance to lying down, or increased acute phase reactants.

Botulismo del lactante: estudio descriptivo en una unidad de cuidados intensivos pediátricos / Infant botulism: a descriptive study in a pediatric intensive care unit

Introducción. El botulismo del lactante (BL) es la forma más frecuente de botulismo humano en Argentina. El objetivo es describir aspectos esenciales del diagnóstico y tratamiento de pacientes con BL internados en el servicio de terapia intensiva pediátrica (STIP). Métodos. Estudio observacional, descriptivo y retrospectivo. Se utilizó la base de datos del STIP con diagnóstico de BL en el período 2005-2020. Se registraron variables demográficas, métodos de diagnóstico, días de asistencia respiratoria mecánica convencional (ARMC), de ventilación no invasiva (VNI), estadía en STIP, mortalidad al alta hospitalaria. Resultados. Se registraron 21 pacientes con BL; 14 pacientes fueron varones, con una mediana de edad de 5 meses (RIC 2-6 m). El diagnóstico se realizó mediante técnica de bioensayo y se detectó la toxina en suero en 12 pacientes. Uno solo no requirió ARMC; 1 paciente fue traqueostomizado; 18 pacientes recibieron antibióticos; 5 recibieron VNI. Ningún paciente recibió antitoxina y no hubo fallecidos. La mediana de estadía hospitalaria fue 66 días (RI: 42-76); de internación en STIP, 48 días (RI: 29-78); y de ARMC, 37 días (RI: 26-64). La demora en la confirmación diagnóstica fue 15,8 ± 4,8 días. Conclusiones. La totalidad de los pacientes fueron diagnosticados con la técnica de bioensayo, que generó un tiempo de demora diagnóstica que excede los lapsos recomendados para la administración del tratamiento específico. Ningún paciente recibió tratamiento específico. El BL presentó baja mortalidad, pero tiempos de ARM e internación prolongados, que se asocian a infecciones sobreagregadas y uso frecuente de antibióticos.

Introduction. Infant botulism (IB) is the most common form of human botulism in Argentina. Our objective was to describe the main aspects of diagnosis and management of patients with IB admitted to the pediatric intensive care unit (PICU). Methods. Observational, descriptive, and retrospective study. The PICU database with IB diagnosis in 2005­2020 period was used. Demographic variables, diagnostic methods, days of conventional mechanical ventilation (CMV), non-invasive ventilation (NIV), length of stay in the PICU and mortality upon hospital discharge were recorded. Results. In total, 21 patients with IB were recorded; 14 were male, their median age was 5 months (IQR: 2­6 m). Diagnosis was made by bioassay, and the toxin was identified in the serum of 12 patients. Only 1 patient did not require CMV; 1 patient had a tracheostomy; 18 patients received antibiotics; 5 received NIV. No patient was administered antitoxin and no patient died. The median length of stay in the hospital was 66 days (IQR: 42­76); in the PICU, 48 days (IQR: 29­78); and the median use of CMV, 37 days (IQR: 26­64). The delay until diagnostic confirmation was 15.8 ± 4.8 days. Conclusions. All patients were diagnosed using the bioassay technique, which resulted in a diagnostic delay that exceeds the recommended period for the administration of a specific treatment. No patient received a specific treatment. IB was related to a low mortality, but also to prolonged use of MV and length of hospital stay, which were associated with cross infections and frequent antibiotic use.

Comparison of the diagnostic accuracy of CT scan with oral and intravenous contrast versus CT scan with intravenous contrast alone in the diagnosis of blunt abdominal trauma / 中华创伤杂志(英文版)

PURPOSE@#Abdominal CT scan using oral and intravenous (IV) contrast is helpful in the diagnosis of intra-abdominal injuries. However, the use of oral and IV contrast delays the process of diagnosis and increases the risk of aspiration. It has also been shown that CT scan with IV contrast alone is as helpful as CT scan with oral and IV contrast and rectal CT scan in detecting abdominal injuries. Therefore, the present study aims to prospectively compare the diagnostic value of CT scan with oral and IV contrast versus CT scan with IV contrast alone in the diagnosis of blunt abdominal trauma (BAT).@*METHODS@#Altogether 123 BAT patients, 60 (48.8%) women and 63 (51.2%) men with the mean age of (40.4 ± 18.7) years who referred to the emergency department of Imam Khomeini Educational and Medical Center in Sari, Iran (a tertiary trauma center in north of Iran) from November 2014 to March 2017 and underwent abdominal CT scans + laparotomy were investigated. Those with penetrating trauma or hemodynamically unstable patients were excluded. The participants were randomly allocated to two groups: abdominal CT scan with oral and IV contrast (n = 63) and CT scan with IV contrast alone (n = 60). No statistically significant difference was found between two groups regarding the hemodynamic parameters, age, gender, injury mechanisms (all p > 0.05). The results of CT scan were compared with that of laparotomy results. The collected data were recorded in SPSS version 22.0 for Windows. Quantitative data were presented as mean and SD.@*RESULTS@#The sensitivity and specificity of CT scan using oral and IV contrast in the diagnosis of BAT were estimated at 96.48 (95% CI: 90.73 - 99.92) and 92.67 (95% CI: 89.65 - 94.88), respectively; while CT scan with IV contrast alone achieved a comparable sensitivity and specificity of 96.6 (95% CI: 87.45 - 99,42 and 92.84 (95% CI: 89.88 - 95.00), respectively.@*CONCLUSION@#CT scan with IV contrast alone can be used to assess visceral injuries in BAT patients with normal hemodynamics to avoid diagnostic delay.

Nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease / 中国当代儿科杂志

OBJECTIVES@#To investigate the nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease (IBD).@*METHODS@#A retrospective analysis was conducted on the clinical data of children who were diagnosed with IBD for the first time in Hunan Children's Hospital from January 2015 to December 2021. Diagnostic delay was defined as the time from the symptom onset to IBD diagnosis being in the upper quartile (P76-P100) of all IBD children in the study. Multivariate logistic regression analysis was used to explore the risk factors for emaciation and growth retardation.@*RESULTS@#A total of 125 children with newly diagnosed IBD were included, with Crohn's disease being the main type (91.2%). The rates of emaciation and growth retardation were 42.4% (53 cases) and 7.2% (9 cases), respectively, and the rate of anemia was 77.6% (97 cases). Diagnostic delay was noted in 31 children (24.8%), with the time from the symptom onset to IBD diagnosis of 366 to 7 211 days. Multivariate logistic regression analysis showed that diagnostic delay was a risk factor for emaciation and growth retardation (OR=2.73 and OR=4.42, respectively; P<0.05) and that age was positively associated with emaciation (OR=1.30, P<0.05).@*CONCLUSIONS@#Children with newly diagnosed IBD have poor nutritional status, and the rates of anemia, emaciation, and growth retardation are high. Diagnostic delay is associated with malnutrition in children with IBD.

Hearing screening through frequency analysis of auditory brainstem response using PhysioNet Data

Objectives@#Responding to the reality of neonate patients with delayed childhood development due to late diagnosis of and intervention on hearing impairment, this study aims to determine the features based on time-frequency domain of auditory brainstem response (ABR) signals and to test the protocol on ABR signals from PhysioNet. @*Methods@#This is done by pre-processing, performing time-frequency analysis, and characterizing hearing impairment using the dominant features of the ABR. In this study, normal (N) and hearing impaired (HI) ABR adult human signals were acquired from Physionet.org, a publicly available database. Considering its high signal-to-noise ratio, numerous filters and transformations were applied to extract the ABR. Consequently, the features acquired — dominant frequency and bigrams, were used as data classifiers. @*Results@#Initial results using only N classifiers, that is features from the Normal dataset, and bandpass Chebyshev filter with a lower cut-off frequency of 60 Hz show that the tests yielded low to middle sensitivity. Further tests were done to improve the sensitivity that incorporated the HI classifiers, used data filtered with a low cut-off frequency of 300 Hz, and data divided per stimulus intensity level. @*Conclusion@#Conclusions made are 1) data with both N and HI classifiers have higher sensitivity than those using only N classifiers, 2) data with a Chebyshev cut-off frequency of 300 Hz have a higher sensitivity than those with 60 Hz, and 3) data divided per intensity level have a higher sensitivity than data analyzed as a whole, and that features with stimulus intensity in middle ranges have a better distinction between HI and N patients.

Resección laparoscópica de dilatación quística congénita del conducto cístico en un paciente pediátrico / Laparoscopic Resection of Congenital Cystic Dilatation of the Cystic Duct in a Pediatric Patient

Introducción: La dilatación quística congénita del conducto cístico o dilatación tipo VI de la clasificación de Todani, es una variante rara de dilatación congénita de la vía biliar. Objetivo: Explicar la metodología diagnóstica y terapéutica empleada en un caso pediátrico con esta entidad, y destacar la ventaja de su tratamiento oportuno por vía mínimamente invasiva. Presentación del caso: Paciente masculino de 6 años con sintomatología sugestiva de enfermedad vesicular, referido desde la atención secundaria por sospecha de quiste de colédoco. En el ultrasonido se detectaba una lesión ecolúcida adyacente a la vesícula biliar, sin dilatación de las vías biliares intrahepáticas. Se realizó colangiografía laparoscópica y se confirmó una dilatación quística aislada del conducto cístico, la cual se resecó por vía laparoscópica, igualmente. Conclusiones: La incidencia de la dilatación quística del conducto cístico es muy baja y se puede presentar en niños con sintomatología variable. El diagnóstico generalmente es tardío, puede sospecharse mediante la ecografía abdominal y confirmarse con la colangiografía laparoscópica, aun en ausencia de otros medios diagnósticos más modernos. Su reconocimiento y correcta clasificación permiten realizar el tratamiento quirúrgico definitivo exitosamente, de preferencia por vía laparoscópica(AU)

Introduction: Congenital cystic duct dilatation, or Todani classification type VI dilatation, is a rare variant of congenital bile duct dilatation. Objective: To explain the diagnostic and therapeutic methodology used in a pediatric case with this entity, and to highlight the advantage of its timely minimally invasive treatment. Case presentation: Six-year-old male patient with symptoms suggestive of gallbladder disease, referred from secondary care for suspicion of a common bile duct cyst. Ultrasound showed an echolucent lesion adjacent to the gallbladder, without dilatation of the intrahepatic bile ducts. Laparoscopic cholangiography was performed and confirmed an isolated cystic dilatation of the cystic duct, which was resected laparoscopically, likewise. Conclusions: The incidence of cystic dilatation of the cystic duct is very low and may present in children with variable symptomatology. Diagnosis is usually late, can be suspected by abdominal ultrasound and confirmed by laparoscopic cholangiography, even in the absence of other more modern diagnostic tools. Its recognition and correct classification permit a successful definitive surgical treatment, preferably laparoscopically(AU)

Infección osteoarticular multifocal en un recién nacido / Multifocal osteoarticular infection in a neonate / Infecção osteoarticular multi-focal num recém-nascido

Tanto la osteomielitis como la osteoartritis séptica en el período neonatal son patologías infrecuentes. La afectación ósea de la columna cervical es aún más rara, siendo excepcional en neonatos. Son patologías graves, con elevada morbimortalidad, donde el diagnóstico y tratamiento precoz agresivo son de suma importancia para el pronóstico vital y funcional. Presentamos el caso de un neonato que presentó una sepsis a S. Aureus multirresistente, asociada a una osteomielitis de la primera vértebra cervical y a una osteoartritis séptica de la cadera izquierda. Fue tratado precozmente de forma quirúrgica y con antibioticoterapia, presentando una buena evolución.

Both osteomyelitis and septic osteoarthritis in the neonatal period are infrequent pathologies. Bone involvement of the cervical spine is even rarer, being exceptional in neonates. These are serious pathologies, with high morbimortality, where early diagnosis and aggressive treatment are of utmost importance for the vital and functional prognosis. We present the case of a neonate who presented with sepsis due to multidrug-resistant S. Aureus, associated with osteomyelitis of the first cervical vertebra and septic osteoarthritis of the left hip. He was treated early surgically and with antibiotic therapy, presenting a good evolution

Tanto a osteomielite como a osteoartrose séptica no período neonatal são patologias raras. O envolvimento ósseo da coluna cervical é ainda mais raro, sendo excepcional nos recém-nascidos. Estas são patologias graves, com elevada morbimortalidade, onde o diagnóstico precoce e o tratamento agressivo são da maior importância para o prognóstico vital e funcional. Apresentamos o caso de um recém-nascido que apresentou sepse devido a S. Aureus multirresistente, associado a osteomielite da primeira vértebra cervical e osteoartrose séptica da anca esquerda. Foi tratado precocemente cirurgicamente e com terapia antibiótica, com uma boa evolução.

Monitoramento clínico de casos recém diagnosticados de HIV/Aids assistidos em um hospital do interior paulista / Clinical monitoring of newly diagnosed HIV/AIDS cases assisted in an interior hospital in São Paulo

Introdução: O diagnóstico oportuno da infecção pelo HIV deve ser uma das prioridades para o controle da aids. Globalmente, as pessoas que vivem com o HIV têm acesso ao diagnóstico tardiamente e com doenças associadas, trazendo implicações para o tratamento e desfecho clínico desfavorável. Apesar dos esforços para o diagnóstico oportuno, os hospitais ainda recebem pacientes com a aids. Objetivo: Monitorar clinicamente pacientes recém diagnosticados com HIV/aids quanto ao diagnóstico oportuno e desfecho após um ano. Método: Estudo retrospectivo, com dados secundários de uma unidade especializada localizada em um hospital terciário no interior paulista. A coleta de dados incluiu dados sociodemográficos, comportamentais, clínicos e laboratoriais de recém diagnosticados com HIV coletados em prontuário eletrônico que chegaram para primeiro atendimento hospitalar entre 2015-2019. A análise dos dados utilizou os softwares estatísticos SPSS e STATA e abordou estatística descritiva e inferencial, a saber: teste do Qui-Quadrado, Exato de Fisher, T pareado, regressão logística multivariada e multinominal, com significância estatística de 5% (α ≤ 0,05). O estudo atendeu aos preceitos éticos da Resolução nº 466/2012. Resultados: 314 pessoas foram recém diagnosticadas com HIV/aids. 70,3% (208) tiveram diagnóstico tardio e 57,1% (169) muito tardio. Houve associação do diagnóstico muito tardio com as variáveis sexo e escolaridade e com: origem, entrada, ocorrência de doenças oportunistas, uso de TARV e óbito, essas com diagnóstico tardio e muito tardio, respectivamente. O seguimento clínico do dia zero e doze meses após apresentou melhora na contagem de CD4, carga viral e indivíduos indetectáveis. A regressão multinominal mostrou uma chance de ocorrência de óbito - 6,17 vezes maior em 2017 quanto em 2015 e chance de ocorrência de perda de seguimento 4,31 vezes maior no mesmo período. Quanto a chance de ocorrência de transferência para serviços secundários, em 2018 foi 7,13 vezes maior do que em 2015 e decréscimo em 2019. A modalidade de entrada pelo primeiro atendimento teve uma chance menor de ocorrência de óbito do que os pacientes originários de enfermaria (87,73%). Os pacientes cuja entrada se deu pelo ambulatório apresentaram uma chance menor de ocorrência de óbito (76,11%) e de transferência para serviço secundário (94,59%) em relação aos originários de enfermaria. Discussão: As evidências identificadas foram compatíveis com achados previamente descritos na literatura como a importância da educação no enfretamento a epidemia de HIV, alta eficiência da TARV e dificuldades das políticas públicas voltadas para o HIV (sejam essas para a prevenção e diagnóstico precoce ou tratamento) em alcançar as pessoas em situação de vulnerabilidade social, especialmente, homens. Conclusão: Evidenciou-se alta prevalência de diagnóstico tardio e muito tardio em pacientes recém diagnosticados para o HIV, que apresentam em grande proporção doenças oportunistas, principalmente, quando necessitam de internação hospitalar. Recomenda-se planos de ação voltados para o diagnóstico oportuno do HIV e ações para efetivação da política nacional de saúde do homem. Além de outras pesquisas a fim de preencher lacunas como referente ao impacto da pandemia de COVID -19 no diagnóstico e tratamento desses indivíduos

Introduction: Timely diagnosis of HIV infection should be a priority for AIDS control. Globally, people living with HIV have late access to diagnosis and associated illnesses, resulting in implications for treatment and unfavorable clinical outcomes. Despite efforts towards timely diagnosis, hospitals still receive patients with AIDS. Objective: To clinically monitor newly diagnosed HIV/AIDS patients for timely diagnosis and outcomes after one year. Method: Retrospective study with secondary data from a specialized unit located in a tertiary hospital in the interior of São Paulo. Data collection included sociodemographic, behavioral, clinical, and laboratory data from newly diagnosed HIV patients collected from electronic medical records who arrived for initial hospital care between 2015-2019. Data analysis used statistical software SPSS and STATA and included descriptive and inferential statistics, namely: Chi-Square test, Fisher's Exact test, paired t-test, multivariate and multinomial logistic regression, with statistical significance set at 5% (α ≤ 0.05). The study met the ethical precepts of Resolution no. 466/2012. Results: 314 people were newly diagnosed with HIV/AIDS. 70.3% (208) had late diagnosis and 57.1% (169) had very late diagnosis. Very late diagnosis was associated with sex and education variables, as well as origin, entry, occurrence of opportunistic diseases, use of ART, and death, all with late and very late diagnosis, respectively. Clinical follow-up at zero and twelve months showed improvement in CD4 count, viral load, and undetectable individuals. Multinomial regression showed a 6.17-fold higher chance of death in 2017 than in 2015 and a 4.31-fold higher chance of loss to follow-up in the same period. The chance of transfer to secondary services was 7.13 times higher in 2018 than in 2015, with a decrease in 2019. The entry modality for initial care had a lower chance of death than patients originating from the ward (87.73%). Patients whose entry was through the outpatient clinic had a lower chance of death (76.11%) and transfer to secondary service (94.59%) than those originating from the ward. Discussion: The evidence identified was consistent with previously described findings in the literature, such as the importance of education in dealing with the HIV epidemic, the high efficiency of ART, and the difficulties of public policies focused on HIV (whether for prevention and early diagnosis or treatment) in reaching people in situations of social vulnerability, especially men. Conclusion: A high prevalence of late and very late diagnosis was found in newly diagnosed HIV patients, who presented a high proportion of opportunistic diseases, especially when hospitalized. Action plans aimed at timely HIV diagnosis and actions to implement the national health policy for men are recommended. Further research is needed to fill gaps regarding the impact of the COVID-19 pandemic on the diagnosis and treatment of these individuals

Human Visceral Leishmaniasis: lethality and time from suspicion to treatment in an endemic area in Brazil / Leishmaniose visceral humana: letalidade e tempo da suspeição ao tratamento em área endêmica no Brasil / Leishmaniasis visceral humana: letalidad y tiempo desde la sospecha hasta el tratamiento en un área endémica de Brasil

Background and objectives: human visceral leishmaniasis (HVL) are a persistent public health problem, configuring a challenge to reduce its lethality. In order to evaluate the factors associated with lethality, this study emphasizes the time elapsed from suspicion to treatment of HVL, in the years 2015 to 2019, in the municipality of Araguaína-TO, an area of intense transmission. Methods: an epidemiological study of case series with longitudinal follow-up with information extracted from HVL notification and investigation forms. The relative risk (RR) was used as a measure of the strength of association for death, being calculated with confidence intervals (95% CI) estimated by the Wald test. Time intervals were represented in days by box plot as medians (Md). Results: of the 191 cases of HVL, 179 (93.72%) were cured and 12 (6.28%) had a fatal outcome. There was no association of risk of death by sex, education, race, being significant only by age in the age groups of young (RR= 16.09) and older adults (RR=7.08). The time from suspicion to treatment in children was shorter (0-35 days, Md=12) than that of older patients (4-44 days, Md=18) and in those who died (7-65 days, Md=20) highlighting greater inopportunity of healing in these last two groups. Conclusion: late diagnosis was a determining indicator for worse outcomes, five days made the difference between the group with an outcome for cure with the group of those who died, highlighting the need to shorten the wait for treatment.(AU)

Justificativa e objetivos: a leishmaniose visceral humana (LVH) constitui-se em persistente problema de saúde pública, configurando-se um desafio à redução de sua letalidade. Para avaliação dos fatores associados à letalidade, este estudo tem ênfase no tempo decorrido da suspeição ao tratamento de LVH, nos anos de 2015 a 2019, no município de Araguaína-TO, área de transmissão intensa. Métodos: estudo epidemiológico de série de casos com acompanhamento longitudinal, com informações extraídas das fichas de notificação e investigação de LVH. Utilizou-se o risco relativo (RR) como medida de força de associação para o óbito, sendo calculado com intervalos de confiança (IC 95%) estimados pelo Teste de Wald. Os intervalos de tempo foram representados em dias por box plot em medianas (Md). Resultados: dos 191 casos de LVH, 179 (93,72%) obtiveram cura e 12 (6,28%) apresentaram desfecho fatal. Não houve associação de risco de morte por sexo, escolaridade, raça ou cor, sendo significativa apenas por idade nas faixas etárias de adultos jovens (RR= 16,09) e idosos (RR=7,08). O tempo da suspeição ao tratamento em crianças foi mais curto (0-35 dias, Md= 12) que o de pacientes mais velhos (4-44 dias, Md=18) e naqueles que evoluíram ao óbito (7-65 dias, Md=20), realçando maior inoportunidade de cura nesses dois últimos grupos. Conclusão: o diagnóstico tardio foi um indicador determinante para piores desfechos, e cinco dias fizeram a diferença entre o grupo com desfecho para cura e o grupo dos que vieram a óbito, destacando a necessidade de encurtamento da espera para tratamento.(AU)

Justificación y objetivos: la leishmaniasis visceral humana (HVI) constituye un problema persistente de salud pública, configurando un desafío para reducir su letalidad. Con el objetivo de evaluar los factores asociados a la letalidad, este estudio enfatiza el tiempo transcurrido desde la sospecha hasta el tratamiento de la VLH, en los años 2015 a 2019, en el municipio de Araguaína-TO, zona de transmisión intensa. Métodos: estudio epidemiológico de serie de casos con seguimiento longitudinal con información extraída de los formularios de notificación e investigación LVH. Se utilizó el riesgo relativo (RR) como medida de la fuerza de asociación para muerte, siendo calculado con intervalos de confianza (IC 95%) estimados por la prueba de Wald. Los intervalos de tiempo se representaron en días mediante diagrama de caja como medianas (Md). Resultados: los 191 casos de LVH, 179 (93,72%) se curaron y 12 (6,28%) tuvieron un desenlace fatal. No hubo asociación de riesgo de muerte por sexo, educación, raza o color, siendo significativo solo por edad en los grupos de edad de adultos jóvenes (RR= 16,09) y ancianos (RR=7,08). El tiempo desde la sospecha hasta el tratamiento en los niños fue menor (0-35 días, Md=12) que en los pacientes mayores (4-44 días, Md=18) y en los que fallecieron (7-65 días, Md=20) destacando mayor inoportunidad de curación en estos dos últimos grupos. Conclusión: el diagnóstico tardío fue un indicador determinante de peor desenlace, los cinco días marcaron la diferencia entre el grupo con resultado de curación con el grupo de los que fallecieron, destacando la necesidad de reducir la espera para el tratamiento.(AU)

Diagnóstico tardío de atrofia muscular espinal en paciente con síndrome de Down / Late diagnosis of spinal muscular atrophy in a patient with Down syndrome

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.

A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.

Estudio clínico, radiológico y derivación en tumores musculoesqueléticos / Diagnosis and referral of musculoskeletal tumors

Musculoskeletal tumors are uncommon. However, the true burden of all bone and soft tissue tumors of extremities is underestimated. Usually, the diagnosis of sarcomas is missed or delayed. Therefore, an adequate clinical and radiological assessment, along with the awareness and application of simple guidelines for referral to a specialized center, are of utmost importance. These are critical steps for an appropriate diagnosis and treatment of sarcomas, improving their prognosis.

Síndrome de Boerhaave: manejo diagnóstico y terapéutico en el Hospital Regional de Talca / Boerhaave Syndrome: diagnostic and therapeutic management at the Hospital Regional de Talca

Introduction: Boerhaave syndrome is a spontaneous rupture of the esophageal wall caused by a sudden increase in intraesophageal pressure. It represents an incidence of approximately 15% of all esophageal perforations, which do not exceed 3.1 per 1 million inhabitants per year. Objectives: To communicate the clinical presentation and management of patients with this syndrome, as well as to reveal the different options available in our service for its treatment. Methods: Search in the statistical data of the regional Hospital of Talca for patients with a diagnosis of Boerhaave syndrome. Five patients were found. Information was obtained from their clinical records and is presented as a clinical case report with a descriptive analysis of their management. Results: Of the 5 clinical cases presented, a classic clinical presentation can be observed, most of the patients presented with vomiting that later evolved with thoracic and/or epigastric pain, associated with imaging studies suggesting esophageal perforation. Management was surgical in 100% of the cases, applying different techniques described in the literature. Discussion and Conclusion: Boerhaave syndrome is a medical-surgical emergency that requires timely management. In spite of the variety of management and the consequences of each one of them, all the patients had an evolution that allowed them to preserve their lives until nowadays. Keeping a high index of suspicion and choosing the best management will have an impact on morbidity and mortality.