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.

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

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)

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.

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.

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.

Sarcoma de Kaposi en diagnóstico tardío de VIH/sida / Kaposi sarcoma in late HIV/AIDS diagnosis

Introducción: El sarcoma de Kaposi es una neoplasia maligna multifocal de células endoteliales, que se presenta con lesiones características en la piel, boca y ganglios linfáticos. Objetivo: Describir un caso de sarcoma de Kaposi que, por sus características, entorpeció el diagnóstico de infección por VIH. Presentación del caso: Paciente masculino, de 30 años, diagnosticado recientemente con síndrome de inmunodeficiencia adquirida, sin tratamiento. Fue referido a la consulta de cirugía maxilofacial para biopsia de adenopatía cervical derecha. Durante el examen físico se observó edema generalizado en ambos miembros inferiores, con lesiones hiperpigmentadas de aspecto macular y papular de varias tonalidades. En la mucosa del paladar duro se apreció una lesión pigmentada violácea, que abarcaba la línea media palatina y se extendía hacia la hemiarcada izquierda. Se realizó la exégesis de la adenopatía con fines diagnósticos, con lo cual se confirmó sarcoma de Kaposi. Conclusiones: La falta de familiaridad con las características clínicas, así como la falta de una biopsia de las lesiones cutánea y un examen completo de la cavidad oral, ocasionaron que esta neoplasia pasara desapercibida en los exámenes médicos de rutina en el caso presentado, lo que condujo a un bajo índice de sospecha de la infección por VIH/sida y retrasó el tratamiento oportuno. Cuando la inmunosupresión está avanzada, el sarcoma de Kaposi relacionado al síndrome de inmunodeficiencia adquirida tiende a ser más agresivo(AU)

Introduction: Kaposi sarcoma is a multifocal malignant neoplasm of endothelial cells which presents with characteristic lesions on the skin, mouth and lymph glands. Objective: Describe a case of Kaposi sarcoma with characteristics that hindered HIV infection diagnosis. Case presentation: A case is presented of a male 30-year-old patient recently diagnosed with acquired immunodeficiency syndrome, and not following any treatment. The patient was referred to the maxillofacial surgery service for right cervical adenopathy biopsy. Physical examination revealed generalized edema in both lower limbs, with hyperpigmented lesions of macular and papular appearance and various shades of color. A purplish pigmented lesion was detected in the hard palate mucosa. The lesion covered the palatal midline and extended toward the left hemiarch. Exeresis of the adenopathy was performed for diagnostic purposes, confirming the diagnosis of Kaposi sarcoma. Conclusions: Lack of familiarity with the clinical characteristics of Kaposi sarcoma, and not performing a biopsy of the skin lesions and a complete examination of the oral cavity, made the neoplasm go unnoticed to routine medical tests, leading to low suspicion of HIV/AIDS infection and delaying timely treatment. In advanced immunosuppression, Kaposi sarcoma related to acquired immunodeficiency syndrome tends to be more aggressive(AU)

Overview of lymphoma diagnosis in Brazilian public health system patients: Open data analysis for health care planning

Abstract Introduction Knowing the information regarding the panorama of lymphoma diagnosis in patients treated in the Brazilian Public Unified Health System from the last 10 years is a challenge for Strategic Health Planning. Objective To characterize the Brazilian population with lymphoma treated in the Brazilian Public Unified Health System between 2008 and 2017 regarding staging, sex, residence site and mortality. Material and methods A descriptive, retrospective, and longitudinal trial with secondary data from DataSUS (SIA/SUS and SIM/SUS) obtained from patients with ICD-10 C81-85. Results There were 70,850 lymphoma cases between 2008 and 2017, of which 55% were male, the median age was 51 years, and 27% had Hodgkin Lymphoma. Most patients (56%) were treated outside the residence city. São Paulo State accounted for 25% of patients. Treatment initiation took more than 60 days in 27% of cases. A total of 45,601 deaths were due to lymphoma (12% Hodgkin Lymphoma and 88% Non-Hodgkin Lymphoma), with a median age 63 years, and were mainly males (55%). Staging data were inadequate in 23% of patients, and analysis was performed only on the valid records. Advanced disease was diagnosed in 58% of patients (60% male; 57% female) and was more common in Non-Hodgkin Lymphoma (62%) versus Hodgkin Lymphoma (49%). Discussion Late diagnosis interferes with mortality rates. Health promotion and cancer prevention campaigns, especially targeting the male public, and training for early diagnosis and early treatment are needed. Conclusion Effective measures for early diagnosis and treatment are urgently needed for lymphoma control.

Spanish version of the frontotemporal dementia knowledge scale: adaptation and validation / Versión en español de la escala de conocimiento sobre demencia frontotemporal: adaptación y validación

ABSTRACT Background: Frontotemporal dementia (FTD) is a neurodegenerative disease and is one of the most common causes of dementia in people under 65. There is often a significant diagnostic delay, as FTD can be confused with other psychiatric conditions. A lack of knowledge regarding FTD by health professionals is one possible cause for this diagnostic confusion. Objectives: The aim of this study was to adapt and validate the Frontotemporal Dementia Knowledge Scale (FTDKS) in Spanish. Methods: A translation was done, following cross-cultural adaptation guidelines, which consisted of forward translation, blind back translation, and an analysis by a committee of experts. For the present study, 134 professionals from different health areas responded the Spanish version of the FTDKS. The statistical analysis was performed using R version 4.0.0 "Arbor day" and the Psych, sjPlot packages. Results: The Spanish version of the FTDKS had good reliability and internal consistency (Cronbach alpha 0.74.). The sample's mean score was 19.78 (range = 4-32, SD 6.3) out of a maximum of 36 points. Conclusions: The results obtained show that the Spanish version has good psychometric properties. The FTDKS is applicable in our environment and can be a useful tool to evaluate the knowledge of health professionals regarding frontotemporal dementia.

RESUMEN Antecedentes: La demencia frontotemporal (DFT) es una enfermedad neurodegenerativa y es una de las causas más comunes de demencia en personas menores de 65 años. A menudo existe un retraso significativo en el diagnóstico, ya que la FTD puede confundirse con otras afecciones psiquiátricas. La falta de conocimientos sobre la DFT por parte de los profesionales de salud es una posible causa de esta confusión diagnóstica. Objetivos: El presente estudio describe nuestros esfuerzos para adaptar y validar la Escala de Conocimiento de la Demencia Frontotemporal (FTDKS) en español. Métodos: Se realizó una traducción, siguiendo las pautas de adaptación transcultural, que consistió en una traducción directa, una traducción inversa ciega y un análisis por parte de un comité de expertos. Para el presente estudio, 134 profesionales de diferentes áreas de la salud respondieron la versión en español del FTDKS. El análisis estadístico se realizó utilizando la versión 4.0.0 de R "Arbor day" y los paquetes Psych, sjPlot. Resultados: La versión en español del FTDKS tiene una buena fiabilidad y consistencia interna (alfa de Cronbach 0,74.). La puntuación media de la muestra fue de 19,78 (rango = 4-32, SD 6,3) sobre un máximo de 36 puntos. Conclusiones: Los resultados obtenidos muestran que la versión española tiene buenas propiedades psicométricas. El FTDKS es aplicable en nuestro medio y puede ser una herramienta útil para evaluar los conocimientos de los profesionales sanitarios sobre la demencia frontotemporal.

Gravidez heterotópica espontânea: implicações de um diagnóstico tardio / Spontaneous heterotopic pregnancy: implications of a late diagnosis

A gestação heterotópica é uma entidade rara, principalmente se resultante de concepção natural. O diagnóstico é ultrassonográfico, porém a gestação intrauterina concomitante contribui para a dificuldade propedêutica. Neste relato de caso, a detecção foi tardia, a ultrassonografia não identificou a gestação heterotópica e apenas durante a avaliação intraoperatória, por meio de uma cirurgia de emergência devido a choque hemorrágico, houve o reconhecimento. A suspeita de uma gestação heterotópica deve ser sempre aventada quando sinais clínicos típicos (sangramento, dor abdominal) estão presentes, mesmo na ausência de fatores de risco ou imagens anômalas na ecografia. Assim, uma intervenção precoce menos invasiva pode ser realizada, reduzindo a morbimortalidade materna e do feto intrauterino. Este relato de caso destaca uma situação incomum dentro dessa patologia rara: diagnóstico tardio, apenas no segundo trimestre de gestação, sem evidência prévia ultrassonográfica, certificada apenas durante o intraoperatório. O manejo cirúrgico preciso permitiu a manutenção da gravidez intrauterina.(AU)

Heterotopic pregnancy is a rare entity, especially if it is resulted from natural conception. The diagnosis is ultrasonographic, but the concomitant intrauterine pregnancy contributes to the propaedeutic difficulty. In this case report, the detection was late, the ultrasonography did not identify heterotopic pregnancy and, only during intraoperative evaluation through emergency surgery, exploratory laparotomy, there was recognition. The suspicion of a heterotopic pregnancy should always be raised when typical clinical signs (bleeding, abdominal pain) are present, even in absentia of risk factors or anomalous images on ultrasound. Thus, a less invasive early intervention can be performed, reducing maternal and intrauterine fetus morbimortality. This case report highlights an unusual situation within this rare pathology: late diagnosis, only in the second trimester of pregnancy, without previous ultrasound evidence, certified only during the intraoperative period. Precise surgical management allowed the maintenance of intrauterine pregnancy.(AU)

Trombosis arterial de diagnóstico tardío que simula un síndrome de Südeck luego de un reemplazo total de rodilla / Late-diagnosed arterial thrombosis mimicking Complex regional pain syndrome after total knee arthroplasty in a patient with CREST syndrome

La trombosis arterial luego de una artroplastia total de rodilla es una complicación poco frecuente; sin embargo, puede tener consecuencias devastadoras. Describimos un caso de una oclusión arterial después de una artroplastia total de rodilla en una mujer de 85 años. Inicialmente, la presentación clínica nos hizo pensar en una manifestación de la enfermedad de Raynaud (la paciente tenía antecedente de síndrome de CREST). Entre los diagnósticos diferenciales también se planteó un síndrome de dolor regional complejo, que retrasó el diagnóstico durante dos semanas. Finalmente, el diagnóstico y el tratamiento se realizaron mediante angiografía. La recuperación funcional fue completa. La baja frecuencia de esta lesión puede determinar que el diagnóstico sea un desafío para el cirujano. En este caso, la oclusión parcial de las arterias evitó complicaciones más graves. Nivel de Evidencia: IV

Arterial thrombosis after total knee replacement (TKR) is a rare complication; however, it can lead to disastrous consequences. We describe a case of an arterial occlusion after TKR in an 85-year-old female patient. Initially, the clinical presentation made us con-sider Raynaud (she had a history of CREST) and complex regional pain syndrome, which delayed the diagnosis for 2 weeks. Diagnosis and treatment were accomplished with angiography and the patient achieved a full recovery. The low frequency of this injury may make diagnosis a challenge for the surgeon. In this case, partial occlusion of the arteries avoided more serious complications. Level of evidence: IV

Tuberculosis pulmonar y extrapulmonar en niños / Pulmonary and extrapulmonary tuberculosis in children

La Organización Mundial de la Salud (OMS) informa que ocurren 1.1 millones de casos de tuberculosis (TBC) en niños <15 años. En Chile se observa un aumento de casos en el tiempo. La pandemia por SARS-Cov2 ha implicado una disminución de la pesquisa y un retardo de la atención y diagnóstico de TBC. Se presenta dos casos clínicos de tuberculosis en adolescentes. El primero corresponde a un adolescente con una tuberculosis pulmonar de difícil y tardío diagnóstico, habiéndose descartado inicialmente TBC por estudio molecular y PPD no reactivo. El segundo caso corresponde a un adolescente con una tuberculosis pulmonar y extrapulmonar de diagnóstico tardío, de 8 meses de evolución, posterior a un cuadro leve de Covid.

The World Health Organization (WHO) reports that 1.1 million cases of tuberculosis (TB) occur in children <15 years of age. In Chile, an increase in cases is observed over time. The SARS-Cov2 pandemic has led to a decrease in screening and a delay in care and diagnosis of TB. Two clinical cases of tuberculosis in adolescents are presented. The first corresponds to an adolescent with TB of difficult and late diagnosis, having initially ruled out TB by molecular study and non-reactive PPD. The second case corresponds to an adolescent with pulmonary and extrapulmonary tuberculosis of late diagnosis, of 8 months of evolution, after a mild respiratory infection of Covid.

Prevalence and factors associated with late diagnosis of the HIV infection in a municipality of São Paulo / Prevalencia y factores asociados al diagnóstico tardío de la infección ocasionada por el VIH en un municipio de São Pauloo / Prevalência e fatores associados ao diagnóstico tardio da infecção pelo hiv em um município paulista

ABSTRACT Objective: to identify the prevalence and factors associated with late diagnosis of the infection by the Human Immunodeficiency Virus (HIV), in a municipality of São Paulo. Method: an epidemiological, analytical and retrospective study that analyzed the HIV and AIDS cases notified by the health services in the period from 2015 to 2017 using data from the notifications of the Information System for Notifiable Diseases (SINAN Net) corresponding to the users recently diagnosed with HIV/AIDS infection in the municipality of Ribeirão Preto/SP, Brazil. Data collection was in May 2018. The chi-square test was performed, as well as binary logistic regression, where the dependent variable was the AIDS criterion at the moment of notifying infection by HIV. A p-value<0.05 was considered for the association between the variables studied in relation to late diagnosis. Results: of the 829 (100%) new HIV cases, 290 (35.0%) were diagnosed in the condition of AIDS. Most of the population was male and aged between 15 and 34 years old. Oral candidiasis and weight loss greater than 10% were the main symptoms associated with AIDS. It was observed that people with lower schooling levels and older were more prone to late diagnoses. Conclusion: it is necessary to devise strategies that favor timely diagnosis in the municipality under study, particularly among the individuals aged over 45 years old and with lower schooling levels.

RESUMEN Objetivo: identificar la prevalencia y los factores asociados al diagnóstico tardío de la infección ocasionada por el Virus de Inmunodeficiencia Humana (HIV) en un municipio del interior de Brasil. Método: estudio epidemiológico, analítico y retrospectivo que analizó los casos de VIH y SIDA notificados por los servicios de salud entre 2015 y 2017 por medio de los datos de las notificaciones del Sistema de Información de Problemas de Salud pasibles de Notificación (SINAN Net) referentes a los usuarios recién diagnosticados con la infección ocasionada por el VIH/SIDA en el municipio de Ribeirão Preto/SP, Brasil. La recolección de datos fue en mayo de 2018. Se realizaron tanto una prueba de chi-cuadrado como un análisis de regresión logística binaria, en la cual la variable dependiente fue el criterio de SIDA al momento de notificar la infección ocasionada por el HIV. Se consideró un valor de p<0,05 para la asociación entre las variables estudiadas en relación con el diagnóstico tardío. Resultados: entre los 829 (100%) casos nuevos de HIV, 290 (35,0%) fueron diagnosticados en la condición de SIDA. La mayoría de la población era del sexo masculino y pertenecía al grupo etario de 15 a 34 años. Candidiasis oral y pérdida de peso superior al 10% fueron los principales síntomas asociados al SIDA. Se observó que las personas con niveles de educación más bajos y de mayor edad fueron más propensas a ser diagnosticadas tardíamente. Conclusión: es necesario elaborar estrategias que favorezcan el diagnóstico oportuno en el municipio estudiado, particularmente entre las personas de más de 45 años de edad y con niveles de educación más bajos.

RESUMO Objetivo: identificar a prevalência e os fatores associados ao diagnóstico tardio da infecção pelo vírus da imunodeficiência humana (HIV), em um município do interior paulista. Método: estudo epidemiológico, analítico e retrospectivo que analisou os casos de HIV e AIDS notificados pelos serviços de saúde no período de 2015 a 2017 por meio dos dados das notificações do Sistema de Informação de Agravos de Notificação (Sinan Net) dos usuários recém-diagnosticados para a infecção pelo HIV/AIDS no município de Ribeirão Preto/SP, Brasil. A coleta de dados ocorreu em maio de 2018. Foi realizado o teste qui-quadrado e regressão logística binária, no qual a variável dependente foi o critério de AIDS no momento da notificação da infecção pelo HIV. Foi considerado o valor de p<0,05 para a associação entre as variáveis estudadas com relação ao diagnóstico tardio. Resultados: dentre os 829 (100%) casos novos de HIV, 290 (35,0%) foram diagnosticados na condição de AIDS. A maioria da população pertencia ao sexo masculino e na faixa etária dos 15 aos 34 anos. A candidose oral e a perda de peso acima de 10% foram os principais sintomas associados à AIDS. Observou-se que pessoas com menor escolaridade e com o aumento da idade eram mais propensas a serem diagnosticadas tardiamente. Conclusão: estratégias que favoreçam o diagnóstico oportuno no município estudado são necessárias, particularmente entre os indivíduos com idade acima de 45 anos e com menor escolaridade.

Diagnóstico tardío de cuerpos extraños en vía aérea en pediatría en el ospital de Especialidades Carlos Andrade Marín / Late diagnosis of foreign bodies in pediatric airway in the Carlos Andrade Marín Specialties Hospital

La aspiración de cuerpos extraños es una de las principales causas de ingreso a urgencias y de morbi-mortalidad en Ecuador en pacientes pediátricos. El diagnóstico suele ser tardío, por falta de interés de los cuidadores, o por errores en la valoración. Es importante detectar el cuadro a tiempo, para evitar complicaciones. OBJETIVO. Demostrar la necesidad de un diagnóstico acertado ante la alta sospecha en un cuadro dudoso de aspiración de cuerpo extraño. SERIE DE CASOS. Evaluación de cuatro pacientes de ambos sexos, de entre 11 meses a 15 años de edad con antecedente de ingesta de cuerpo extraño, atendidos en la Unidad Técnica de Cirugía Pediátrica, del Hospital de Especialidades Carlos Andrade Marín, durante el periodo 2019-2020. Se realizó la extracción exitosa mediante broncoscopia rígida en tres de ellos. DISCUSIÓN. La mayoría de pacientes con aspiración de cuerpo extraño suelen ser menores de 5 años de edad, en contraste con éste estudio, donde sólo un paciente estuvo dentro de este rango, y el resto fueron escolares y adolescentes. El cuerpo extraño más común es de origen orgánico; el 50% de los casos observados fue de origen inorgánico. CONCLUSIÓN. El diagnóstico de aspiración de cuerpo extraño se condiciona a la obtención completa de datos sobre la Historia Clínica; requiere una valoración rápida y manejo adecuado por emergencias.

INTRODUCTION. Foreign body aspiration is one of the main causes of emergency room admissions and morbidity and mortality in pediatric patients in Ecuador. Diagnosis is usually late, due to lack of interest of caregivers, or due to errors in the assessment. It is important to detect the condition in time to avoid complications. OBJECTIVE. To demonstrate the need for an accurate diagnosis in the presence of high suspicion in a doubtful picture of foreign body aspiration. CASE SERIES. Evaluation of four patients of both sexes, between 11 months and 15 years of age with a history of foreign body ingestion, attended at the Pediatric Surgery Technical Unit of the Carlos Andrade Marin Specialties Hospital, during 2019-2020 period. Successful extraction by rigid bronchoscopy was performed in three of them. DISCUSSION. Most patients with foreign body aspiration are usually under 5 years of age, in contrast to this study, where only one patient was within this range, and the rest were schoolchildren and adolescents. The most common foreign body is of organic origin; 50% of the cases observed were of inorganic origin. CONCLUSION. The diagnosis of foreign body aspiration is conditioned to the complete collection of data on the Clinical History; it requires a rapid assessment and appropriate emergency management.