Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis. RESULTS: We employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and Sanger sequencing, along with collecting phenotypic data from the patients for comparison. Among the 45 patients, 29 (64%) exhibited a deletion of 15q11-q13, while the remaining 16 (36%) had uniparental disomy. No statistically significant differences were found in the main signs and symptoms of PWS. However, three clinical features showed significant differences between the groups. Deletion patients had a higher prevalence of myopia than those with uniparental disomy, as well as obstructive sleep apnea and an unusual skill with puzzles. CONCLUSIONS: The diagnostic tests (MS-HRM, MS-MLPA, and Sanger sequencing) yielded positive results, supporting their applicability in PWS diagnosis. The study's findings indicate a general similarity in the genotype-phenotype correlation across genetic subtypes of PWS.

Lupus de inicio tardío en un grupo de pacientes paraguayos

Introducción: Los pacientes con lupus eritematoso sistémico (LES) diagnosticados después de los 50 años presentan una enfermedad menos severa y un curso clínico más leve. El objetivo de este estudio es describir las características clínicas y de laboratorios del LES en pacientes de edad avanzada. Material y Método: Estudio observacional, descriptivo, de corte trasverso, retrospectivo, de pacientes con el diagnóstico de LES, de inicio posterior a los 50 años de edad, que consultaron en el Hospital Nacional, en el periodo comprendido entre diciembre de 2016 y mayo de 2024. Resultados: Se estudiaron 30 pacientes entre 51 y 87 años (edad media: 62,5 años ± 8,5), 16 mujeres (53,3%) y 14 varones 14 (46,6 %). El tiempo de enfermedad previo al diagnóstico fue de 59,4 ± 8.3 (50-80) días. La duración de la enfermedad fue en promedio 5 años ± 5,1 (1-26). Las principales manifestaciones clínicas fueron las artralgias 26 (86,6%), artritis 22 (72,3%), pérdida de peso 10 (33,3%) y fiebre prolongada (30%). Presentaron comorbilidades 19 pacientes (63,3 %), siendo la hipertensión arterial la principal. El anti-DNA fue positivo en 12 pacientes (42,8%), el anti-Ro en 5/25 pacientes (20%), el anti-Sm en 2/26 (7,9%). La eritrosedimentación en la primera hora fue ≥ 20 mm en 17/23 (73,9%). El 100% recibió tratamiento con hidroxicloroquina, mientras que recibieron corticoides 26 (86.6%) pacientes, micofenolato mofetil 7 (24,4%), ciclofosfamida 4 (13,3%). La mortalidad fue del 6,6 %. Conclusión: Los principales hallazgos fueron artralgias y artritis, siendo menos frecuentes los casos graves. La mayoría presentó comorbilidades, siendo la hipertensión arterial la más frecuente. La mortalidad fue del 6,6% de causa cardiovascular.

Introduction: Patients with systemic lupus erythematosus (SLE) diagnosed after the age of 50 have a less severe disease and a milder clinical course. The objective of this study is to describe the clinical and laboratory characteristics of SLE in elderly patients. Material and Method: Observational, descriptive, cross-sectional, retrospective study of patients with the diagnosis of SLE, with onset after 50 years of age, evaluated at the National Hospital, in the period between December 2016 and May of 2024. Results: 30 patients between 51 and 87 years old (mean age: 62.5 years ± 8.5) were studied, 16 women (53.3%) and 14 men (46.6%). The time to diagnosis was 59.4 ± 8.3 (50-80) days. The duration of the disease was on average 5 years ± 5.1 (1-26). The main clinical manifestations were arthralgia in 26 (86.6%), arthritis in 22 (72.3%), weight loss in 10 (33.3%) and prolonged fever (30%). Nineteen patients (63.3%) had comorbidities, the main one being high blood pressure. Anti-dsDNA was positive in 12 patients (42.8%), anti-Ro in 5/25 patients (20%), anti-Sm in 2/26 (7.9%). The erythrocyte sedimentation rate was ≥ 20 mm in 17/23 (73.9%). All patients were treatment with hydroxychloroquine, 26 (86.6%) patients received corticosteroids, 7 (24.4%) mycophenolate mofetil, 4 (13.3%) cyclophosphamide. Mortality was 6.6%. Conclusion: The main findings were arthralgia and arthritis, with severe cases being less frequent. The majority presented comorbidities, with high blood pressure being the most common. Mortality was 6.6% due to cardiovascular causes.

Childhood adverse experiences and clinical manifestations in women with systemic lupus erythematosus.

BACKGROUND: Patients with a history of adverse childhood experiences (ACEs) have a higher incidence of developing autoimmune diseases such as systemic lupus erythematosus. OBJECTIVE: The objective is to associate the ACE with the clinical manifestations of SLE in adult women. METHODS: This is a cross-sectional observational analytical study in a sample of women diagnosed with SLE, whose data were collected through interviews and a review of medical records. The ACE were identified using the Childhood Trauma Questionnaire (CTQ) and were associated with sociodemographic and clinical data, as well as the presence of harm. RESULTS: The sample was composed of 97 women. In this study, significant associations were found between physical abuse and oral ulcers (p = .006) and nephritis (p = .032); between sexual abuse and Sjogren's syndrome (p = .024) and oral ulcers (p = .035); between physical neglect and photosensitivity (p = .024) and oral ulcers (p = .039); and between emotional neglect and diabetes mellitus (p = .033). CONCLUSION: Individuals with a positive history of ACE have significant associations with certain clinical manifestations of SLE and subtypes of ACE, underscoring the importance of preventing childhood trauma to improve adult health. Further studies are needed to elucidate the impact of ACE on adult health.

Beyond Borders: Investigating the Mysteries of Cacipacoré, a Lesser-Studied Arbovirus in Brazil.

Cacipacoré virus (CPCV) was discovered in 1977 deep in the Amazon rainforest from the blood of a black-faced ant thrush (Formicarius analis). As a member of the family Flaviviridae and genus orthoflavivirus, CPCV's intricate ecological association with vectors and hosts raises profound questions. CPCV's transmission cycle may involve birds, rodents, equids, bovines, marsupials, non-human primates, and bats as potential vertebrate hosts, whereas Culex and Aedes spp. mosquitoes have been implicated as potential vectors of transmission. The virus' isolation across diverse biomes, including urban settings, suggests its adaptability, as well as presents challenges for its accurate diagnosis, and thus its impact on veterinary and human health. With no specific treatment or vaccine, its prevention hinges on traditional arbovirus control measures. Here, we provide an overview of its ecology, transmission cycles, epidemiology, pathogenesis, and prevention, aiming at improving our ability to better understand this neglected arbovirus.

Aproximación al diagnóstico infarto cerebral isquémico en adultos jóvenes / Approach to the diagnosis of ischemic cerebral infarction in Young adults / Abordagem para o diagnóstico de infarto cerebral isquêmico em adultos jovens

Introducción: El infarto cerebral isquémico (ICI) en adultos jóvenes ha emergido como un relevante problema de salud debido al incremento de su incidencia, alta mortalidad, larga duración del tiempo de la discapacidad y consecuencias sociales. Objetivo: Describir una aproximación al diagnóstico del infarto cerebral isquémico en adultos jóvenes sobre la base de la clasificación etiopatogénica, historia e investigaciones complementarias. Método: Se realizó una extensa revisión bibliográfica con el buscador Google Académico, en las bases de datos bibliográficas PubMed, SciELO y Medline, y con la búsqueda de palabras claves; siendo escogidos 32 artículos cuyo título y resumen se relacionaron con el tema de la presente revisión. Desarrollo: Los subtipos etiopatogénicos del infarto cerebral isquémico en adultos jóvenes difieren al compararlo con adultos mayores, y sus causas etiológicas son más variadas y heterogéneas. Los factores de riesgo, antecedentes patológicos personales y familiares, manifestaciones clínicas no neurológicas y neurológicas, permiten un acercamiento al diagnóstico, mientras que las investigaciones complementarias facilitan la confirmación del diagnóstico, la localización y tamaño del infarto isquémico, el establecimiento de la causa etiológica y el sustento de las decisiones terapéuticas. Consideraciones finales: La historia y manifestaciones clínicas obtenidas mediante el interrogatorio y examen físico, unido a las investigaciones complementarias, posibilita la aproximación al diagnóstico del subtipo etiopatogénico y a la causa del infarto cerebral isquémico en adultos jóvenes, lo que mejora las posibilidades de tratamiento del mismo.(AU)

Introduction: Ischemic stroke in young adults has emerged as a relevant health problem today due to its increased incidence, high mortality, the duration of the disability and social consequences. Objective: To describe an approach in diagnosis of ischemic stroke in young adults based on etiopathogenic classification, history and complementary investigations. Method: A wide-ranging bibliographic review was carried out using Google Scholar, searching in bibliographic databases like PubMed, SciELO and Medline, and searching different keywords; 32 articles were chosen in the process with title and abstract were linked with the subject of this review. Development: The etiopathogenic subtypes of ischemic stroke in young adults differ with regard to older adults, and its etiologic causes are more diverse and heterogeneous. Risk factors, personal and family pathological history, non-neurological and neurological clinical manifestations, allow an approach to diagnosis, while complementary investigations facilitate the confirmation of diagnosis, the location and size of the ischemic infarction, definition of the etiological cause and the support of therapeutic decisions. Final considerations: The history and clinical manifestations obtained through interrogation and physical examination, in association with complementary investigations, made it possible an approach to diagnosis of etiopathogenic subtype and the cause of ischemic brain infarction in young adults improving treatment possibilities.(AU)

Introdução: O acidente vascular cerebral (AVC) isquêmico em adultos jovens emergiu como um problema de saúde relevante devido à sua crescente incidência, elevada mortalidade, longa duração da incapacidade e consequências sociais. Objetivo: Descrever uma abordagem ao diagnóstico do AVC isquêmico em adultos jovens baseada na classificação etiopatogénica, na história e em exames complementares. Método: Foi realizado uma extensa revisão bibliográfica utilizando o motor de busca Google Scholar, as bases de dados bibliográficas PubMed, SciELO e Medline, e uma pesquisa por palavras-chave; foram selecionados 32 artigos cujo título e resumo estavam relacionados com o tema desta revisão. Desenvolvimento: Os subtipos etiopatogênicos do AVC isquêmico em adultos jovens diferem quando comparados aos adultos mais velhos, e suas causas etiológicas são mais variadas e heterogêneas. Os fatores de risco, os antecedentes patológicos pessoais e familiares, as manifestações clínicas não neurológicas e neurológicas permitem uma aproximação ao diagnóstico, enquanto as investigações complementares facilitam a confirmação do diagnóstico, a localização e o tamanho do infarto isquêmico, o estabelecimento da causa etiológica e o apoio às decisões terapêuticas. Considerações finais: A história e as manifestações clínicas obtidas por meio de questionamento e exame físico, juntamente com investigações complementares, permitem abordar o diagnóstico do subtipo etiopatogênico e a causa do AVC isquêmico em adultos jovens, melhorando as possibilidades de seu tratamento.(AU)

Clinical and pathological factors associated with Ehrlichia canis in companion dogs.

INTRODUCTION: Canine monocytic ehrlichiosis (CME) is a disease caused by the Gram-negative bacteria Ehrlichia canis, a bacterium that affects domestic dogs but can also infect humans. The diagnosis implies a challenge due to its diversity in clinical manifestations. METHODOLOGY: The frequency of E. canis infection, risk factors, and clinical-pathological parameters associated with seropositivity were calculated with the PROC FREQ TABLES and PROC LOGISTIC procedures of the SAS statistical software. RESULTS: The study showed a seroprevalence of 26.62% (156/586). Association between seropositivity and risk factors was found. The age and the presence of ticks including clinical signs such as anorexia, seizures, cough, petechiae, epistaxis, and hematochezia, as well as multiple blood and biochemical alterations were analyzed. The logistic regression analysis showed a high predictive power (c = 0.98) for CME for thrombocytopenia, leukopenia, and anemia. CONCLUSIONS: The high prevalence of E. canis in endemic areas makes its diagnosis difficult. Thus, clinical signs must be considered, along with blood and biochemical alterations, as a possible predictor of the disease.

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers. The average assertiveness was 47%, with GSD Ia and Ib being the best-identified types, while no expert correctly identified GSD IXc. Underage investigation for later manifestations, incomplete clinical description, and complementary analysis, the overvaluation of a specific clinical finding ("false positive") or the discarding of the diagnosis in the absence of it ("false negative"), as well as the lack of knowledge of the rarest GSD types, may have impacted the accuracy of the assessment. This study emphasized that characteristics considered as determinants in identifying the specific types or subtypes of GSD are not exclusive, thus becoming factors that may have induced the evaluators to misdiagnose.

Lesión pulmonar aguda producida por transfusión (TRALI): Reporte de caso / Transfusion-induced acute lung injury (TRALI): Case report

Introducción: La lesión pulmonar aguda (TRALI) y la sobrecarga circulatoria (TACO) son las principales causas de morbilidad y mortalidad relacionadas con la transfusión. La TRALI se presenta durante o después de las transfusiones de plasma y sus derivados, o por inmunoglobulinas en alta concentración intravenosa; se asocia a procesos sépticos, cirugías y transfusiones masivas. La TACO es la exacerbación de manifestaciones respiratorias en las primeras 6 horas postransfusión. Reporte caso: Paciente de sexo masculino de 38 días de vida, ingresó al servicio de urgencias con un cuadro clínico de 8 días de evolución, caracterizado por dificultad respiratoria dado por retracciones subcostales y aleteo nasal sin otro síntoma asociado, con antecedentes de importancia de prematuridad y bajo peso al nacer. El reporte de hemograma arrojó cifras compatibles con anemia severa, por lo que requirió transfusión de glóbulos rojos empaquetados desleucocitados. El paciente presentó un cuadro respiratorio alterado en un periodo menor a 6 horas, por lo que se descartaron causas infecciosas y finalmente se consideró cuadro compatible con TRALI. Conclusiones: Se debe considerar una lesión pulmonar aguda relacionada con una transfusión de sangre si se produce una insuficiencia respiratoria aguda durante o inmediatamente después de la infusión de hemoderivados que contienen plasma.

Introduction: Acute lung injury (TRALI) and circulatory overload (TACO) are the main causes of transfusion-related morbidity and mortality. TRALI occurs during or after transfusions of plasma or its derivatives, or by immunoglobulins in high intravenous concentration; it is associated with septic processes, surgeries, and massive transfusions. TACO is the exacerbation of respiratory manifestations in the first 6 hours post transfusion. Case report: A 38-day-old male was admitted to the emergency department with clinical symptoms experienced over the course of 8 days and characterized by respiratory distress due to subcostal retractions and nasal flaring with no other associated symptoms. Important antecedents included prematurity and low birth weight. The hemogram report showed figures compatible with anemia, which benefited from transfusion of packed red blood cells without leukocytes. In a period of less than 6 hours, the patient presented altered respiratory symptoms, practitioners ruled out infectious causes and finally considered clinical signs compatible with TRALI. Conclusion: Acute lung injury related to blood transfusion should be considered if acute respiratory failure occurs during or immediately after infusion of plasma-containing blood products.

Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.

In Alzheimer's disease (AD), the age of onset (AoO) exhibits considerable variability, spanning from 40 to 90 years. Specifically, individuals diagnosed with AD and exhibiting symptoms prior to the age of 65 are typically classified as early onset (EOAD) cases. Notably, the apolipoprotein E (APOE) ε4 allele represents the most extensively studied genetic risk factor associated with AD. We clinically characterized and genotyped the APOEε4 allele from 101 individuals with a diagnosis of EOAD, and 69 of them were affected carriers of the autosomal dominant fully penetrant PSEN1 variant c.1292C>A (rs63750083, A431E) (PSEN1+ group), while there were 32 patients in which the genetic cause was unknown (PSEN1- group). We found a correlation between the AoO and the APOEε4 allele; patients carrying at least one APOEε4 allele showed delays, in AoO in patients in the PSEN1+ and PSEN1- groups, of 3.9 (p = 0.001) and 8.6 years (p = 0.012), respectively. The PSEN1+ group presented higher frequencies of gait disorders compared to PSEN1- group, and apraxia was more frequent with PSEN1+/APOE4+ than in the rest of the subgroup. This study shows what appears to be an inverse effect of APOEε4 in EOAD patients, as it delays AoO and modifies clinical manifestations.

The Influence of Time on the Epidemiology and Clinical Manifestations of Behçet's Disease in Brazil.

OBJECTIVE: Modifications in the severity and clinical expression of Behçet's disease (BD) have been described in some areas that are considered endemic for the disease. This study aims to evaluate the chronological changes in epidemiology and clinical characteristics of BD patients in a referral center in Brazil, which is considered a non-endemic area for the disease. METHODS: A descriptive and cross-sectional study involving BD patients divided into two groups: group 1 patients were diagnosed and followed between 1988 and 2010, and group 2 were diagnosed and followed between 2011 and 2022. RESULTS: No significant differences were found regarding gender and age at onset of symptoms between groups. We found a significant decrease in the frequency of bilateral ocular involvement, posterior uveitis, and retinal vasculitis. CONCLUSION: The demographic dates of this group of Brazilian BD patients remained similar over the last decade. Our study supports the notion that BD is becoming lighter in some regions. BD is a severe blinding disorder, and we found a lower frequency of ocular involvement over time. These findings may be attributed to a higher level of education of patients and a growing awareness of the disease. Newer immunomodulating and biologic agents may offer an improved prognosis in patients with BD with severe manifestations.

Caracterización clínica del binomio madre-hijo de recién nacidos hijos de madres con VIH en el Hospital Barrio Obrero, años 2016 al 2021

Introducción : El virus de la inmunodeficiencia humana (VIH) es un miembro de la familia Retroviridae, actualmente agrupado dentro del género Lentivirus. Objetivos: Describir las características clínicas de los recién nacidos hijos de madres con diagnóstico de VIH positivos. Materiales y Métodos : Se realizó un estudio descriptivo, transversal, retrospectivo del binomio madre-hijo de recién nacidos hijos de madres con VIH, internados en el Servicio de Neonatología del Hospital General Barrio Obrero en el periodo comprendido de enero de 2016 a diciembre 2021. Se procedió a la recolección de los datos de las fichas del periodo correspondiente al estudio. Resultados : Un total de 31 individuos (binomios madre-hijo) fueron analizados, la mayoría del sexo masculino, un tercio de los niños nació con bajo o muy bajo peso, se registraron 11 madres con controles prenatales insuficientes o nulo, lo que dio lugar a 5 partos vaginales, éstos sin control prenatal. El motivo de internación fue la hiperbilirrubinemia, la profilaxis recibida por los RN fue monoterapia con Zidovudina. Conclusiones : Esta investigación ha demostrado que a pesar del esfuerzo de los programas de control de VIH y maternos, los niños aún nacen con bajo o muy bajo peso, se observan controles prenatales insuficientes y partos vaginales.

Introduction: The human immunodeficiency virus (HIV) is a member of the Retroviridae family, currently grouped within the Lentivirus genus. Objectives: To describe the clinical characteristics of newborns born to mothers diagnosed with HIV. Materials and Methods: This was a descriptive, cross-sectional and retrospective study of the mother-child pairing of newborns born to mothers with HIV, admitted to the Neonatology Service of the Barrio Obrero General Hospital from January 2016 to December 2021. We proceeded to collect the data from the records of the period corresponding to the study. Results: A total of 31 individuals (mother-child pairs) were analyzed, most of the infants were male, one third of the children were born with low or very low weight, 11 mothers had insufficient or no prenatal care, which resulted in 5 vaginal deliveries in those without prenatal care. The most frequent reason for infant hospitalization was hyperbilirubinemia, the prophylaxis received by the newborns was Zidovudine monotherapy. Conclusions: This research has shown that despite the efforts of the HIV and maternal control programs, children are still born with low or very low weight, we found insufficient prenatal care and vaginal deliveries.

Clinical manifestations and immune response to tuberculosis.

Tuberculosis is a far-reaching, high-impact disease. It is among the top ten causes of death worldwide caused by a single infectious agent; 1.6 million tuberculosis-related deaths were reported in 2021 and it has been estimated that a third of the world's population are carriers of the tuberculosis bacillus but do not develop active disease. Several authors have attributed this to hosts' differential immune response in which cellular and humoral components are involved, along with cytokines and chemokines. Ascertaining the relationship between TB development's clinical manifestations and an immune response should increase understanding of tuberculosis pathophysiological and immunological mechanisms and correlating such material with protection against Mycobacterium tuberculosis. Tuberculosis continues to be a major public health problem globally. Mortality rates have not decreased significantly; rather, they are increasing. This review has thus been aimed at deepening knowledge regarding tuberculosis by examining published material related to an immune response against Mycobacterium tuberculosis, mycobacterial evasion mechanisms regarding such response and the relationship between pulmonary and extrapulmonary clinical manifestations induced by this bacterium which are related to inflammation associated with tuberculosis dissemination through different routes.

Mpox: epidemiology, clinical manifestations and recent developments in treatment and prevention.

INTRODUCTION: The 2022 Mpox outbreak is the largest viral outbreak recorded outside of Africa. The recent rise in human outbreaks has led to the perception that Mpox, an emerging zoonotic disease, has potential for epidemic spread. Healthcare practitioners are familiarizing themselves with the varied clinical manifestations and therapeutic approaches for this virus while public health organizations seek to limit the outbreak and treat those affected. In light of the worldwide upsurge, we have assembled a review on Mpox to streamline information access for healthcare professionals. AREAS COVERED: Within this article, you will find an overview outlining the virology, epidemiology, symptoms, diagnosis, and management of Mpox. Furthermore, we provide an analysis of Mpox infective mechanisms and management strategies for children and adolescents in the current literature. EXPERT OPINION: The spread of Mpox to non-endemic regions has elicited public alarm due to the lack of easily available information regarding the virus. While we continue to understand Mpox and its possible evolution increased education and knowledge among the public and healthcare providers is crucial. Through the creation of reviews that compile crucial information into a centralized location, we can assist in lessening the harmful effects of the virus through caution and education.

Neuroinflammation in Parkinson's Disease: From Gene to Clinic: A Systematic Review.

Parkinson's disease is a neurodegenerative disease whose progression and clinical characteristics have a close bidirectional and multilevel relationship with the process of neuroinflammation. In this context, it is necessary to understand the mechanisms involved in this neuroinflammation-PD link. This systematic search was, hereby, conducted with a focus on the four levels where alterations associated with neuroinflammation in PD have been described (genetic, cellular, histopathological and clinical-behavioral) by consulting the PubMed, Google Scholar, Scielo and Redalyc search engines, including clinical studies, review articles, book chapters and case studies. Initially, 585,772 articles were included, and, after applying the inclusion and exclusion criteria, 84 articles were obtained that contained information about the multilevel association of neuroinflammation with alterations in gene, molecular, cellular, tissue and neuroanatomical expression as well as clinical-behavioral manifestations in PD.

Manifestaciones clínicas de una serie de pacientes con esclerosis sistémica

Introducción: La esclerosis sistémica es una enfermedad rara de la cual existe información limitada en el Centro de Referencia de Enfermedades Reumáticas de la Habana. Objetivo: Describir las manifestaciones clínicas de los pacientes atendidos con este diagnóstico en el período comprendido entre noviembre del año 2017 a marzo del año 2019. Métodos: Se realizó un estudio observacional descriptivo de corte transversal en 73 pacientes. Se evaluaron variables sociodemográficas como la edad, sexo y color de la piel y variables clínicas como forma de presentación, tiempo de diagnóstico de la enfermedad y manifestaciones clínicas por órganos y sistemas. Resultados: El 57.5 % presentó la forma difusa de la enfermedad y el 48.8 % tenían más de 10 años de diagnóstico. La afectación cutánea fue la más frecuente son un 98.6 %; predominó el engrosamiento y endurecimiento de la piel. La afección digestiva la siguió en orden de frecuencia, con un 94.5 % con predominio de la ulcera péptica. La osteomioarticular fue la tercera más frecuente con el 89.0 %, donde las artralgias y artritis tuvieron más representación. Las manifestaciones cardíacas y las vasculares afectaron al 87.7 % de todos los pacientes; dentro de las primeras las alteraciones del ritmo estuvieron presentes en el 73.9 % y en las segundas el fenómeno de Raynaud se observó en el 80.8 %. Conclusiones: Predominó la forma difusa de la enfermedad, los enfermos con más de 10 años de diagnóstico y la afectación cutánea, la digestiva, la osteomioarticular y las cardíacas y vasculares.

Introduction: Systemic sclerosis is a rare disease for which there is limited information in the Reference Center for Rheumatic Diseases of Havana. Objective: To describe the clinical manifestations of patients treated with this diagnosis in the period from November 2017 to March 2019. Methods: A descriptive, cross-sectional observational study was carried out in 73 patients. Sociodemographic variables such as age, sex and skin color and clinical variables such as form of presentation, time of diagnosis of the disease and clinical manifestations by organs and systems were evaluated. Results: 57.5 % presented the diffuse form of the disease and 48.8 % had more than 10 years of diagnosis. Skin involvement was the most frequent with 98.6 %; thickening and hardening of the skin predominated. The digestive affection followed it in order of frequency, with 94.5 % with a predominance of peptic ulcer. Osteomyoarticular was the third most frequent with 89.0 %, where arthralgia and arthritis had more representation. Cardiac and vascular manifestations affected 87.7 % of all patients; within the first, rhythm disturbances were present in 73.9 % and in the second, Raynaud's phenomenon was observed in 80.8 %. Conclusions: The diffuse form of the disease predominated, patients with more than 10 years of diagnosis and cutaneous, digestive, osteomyoarticular and cardiac and vascular involvement.

Hamartoma adquirido de músculo liso: reporte de caso / Acquired smooth muscle hamartoma: case report / Hamartoma adquirido de músculo liso: reporte de caso

RESUMEN El hamartoma de músculo liso es una malformación cutánea poco común y benigna, congénita o adquirida. En la bibliografía se describen otras enfermedades superpuestas, como la melanosis de Becker, especialmente en el caso de lesiones con hipertricosis e hiperpigmentación. Describimos a un paciente masculino de 21 años con hamartoma de músculo liso adquirido, que es una manifestación rara y con pocos reportes descritos. Destacamos la necesidad de valorar una posible asociación con la melanosis de Becker, enfatizando que los aspectos clínicos, aun con la histopatología, no siempre permiten la individualización.

ABSTRACT Smooth muscle hamartoma is a rare and benign cutaneous malformation, congenital or acquired. Overlapping other diseases is described in the literature, such as Becker's Melanosis, especially in the case of lesions with hypertrichosis and hyperpigmentation. We describe here a 21-year-old male patient with acquired smooth muscle hamartoma, which is a rare manifestation and with few reports described. We emphasize the need to assess a possible association with Becker's melanosis, emphasizing that clinical aspects, even when reconciled with histopathology, do not always allow for individualization.

RESUMO O hamartoma de músculo liso é uma malformação cutânea benigna e rara, de natureza congênita ou adquirida. A sobreposição à outras doenças é descrita na literatura, como a melanose de Becker, especialmente em caso de lesões com hipertricose e hiperpigmentação. Descrevemos aqui, quadro de paciente masculino de 21 anos, com hamartoma de músculo liso adquirido, que é uma manifestação rara e com poucos relatos descritos. Ressaltamos a necessidade de avaliar possível associação com a melanose de Becker, enfatizando que nem sempre os aspectos clínicos, mesmo quando conciliados com a histopatologia, permitem a individualização.

Comparison of clinical features, disease activity, treatment and outcomes between late-onset and early-onset patients with systemic lupus erythematosus. A sex- and year at diagnosis-matched controlled study

Abstract Background Several studies have compared the clinical features and outcomes of late- and early-onset systemic lupus erythematosus (SLE) patients. However, these previous studies were uncontrolled. The current study aimed to compare late- and early-onset SLE patients while controlling for sex and year at diagnosis (± 1 year). Methods The medical records of SLE patients in a lupus cohort from January 1994 to June 2020 were reviewed. Late-onset patients were identified as those with an age at diagnosis ≥ 50 years. The early-onset patients (age at diagnosis < 50 years) were matched by sex and year at diagnosis with the late-onset patients at a ratio of 2:1. Clinical manifestations, disease activity (mSLEDAI-2K), organ damage scores, treatment, and mortality were compared between the two groups. Results The study comprised 62 and 124 late- and early-onset patients, respectively, with a mean follow-up duration of 5 years. At disease onset, when comparing the early-onset patients with the late-onset patients, the latter group had a higher prevalence rate of serositis (37.0% vs. 14.5%, p < 0.001) and hemolytic anemia (50.0% vs. 33.9%, p = 0.034) but lower prevalence rate of malar rash (14.5% vs. 37.1%, p = 0.001), arthritis (41.9% vs. 62.1%, p = 0.009), leukopenia (32.3% vs. 50.0%, p = 0.022) and lymphopenia (50.0% vs. 66.1%, p = 0.034). The groups had similar SLE disease activity (7.41 vs. 7.50), but the late-onset group had higher organ damage scores (0.37 vs. 0.02, p < 0.001). The rates of treatment with corticosteroids, antimalarial drugs, or immunosuppressive drugs were not different. At their last visit, the late-onset patients still had the same pattern of clinically significant differences except for arthritis; additionally, the late-onset group had a lower rate of nephritis (53.2% vs. 74.2%, p = 0.008). They also had a lower level of disease activity (0.41 vs. 0.57, p = 0.006) and received fewer antimalarials (67.7% vs. 85.5%, p = 0.023) and immunosuppressive drugs (61.3% vs. 78.2%, p = 0.044), but they had higher organ damage scores (1.37 vs. 0.47, p < 0.001) and higher mortality rates/100-person year (3.2 vs. 1.1, p = 0.015). After adjusting for disease duration and baseline clinical variables, the late-onset patients only had lower rate of nephritis (p = 0.002), but still received fewer immunosuppressive drugs (p = 0.005) and had a higher mortality rate (p = 0.037). Conclusions In this sex- and year at diagnosis-matched controlled study, after adjusting for disease duration and baseline clinical variables, the late-onset SLE patients had less renal involvement and received less aggressive treatment, but had a higher mortality rate than the early-onset patients.

Manifestaciones clínicas "no criterio" del Síndrome Antifosfolipídico. Presentación de una cohorte nacional

Introducción: El síndrome antifosfolipídico (SAF) es una afección de origen autoinmune caracterizada por trombosis, pérdidas fetales recurrentes y anticuerpos antifosfolipídicos (aFL). Existen manifestaciones clínicas no contempladas en los criterios clasificatorios, que se denominan manifestaciones no criterio. Objetivo: Analizar las manifestaciones clínicas del SAF, enfatizando las manifestaciones no criterio y su relación con el perfil de autoanticuerpos en un hospital general de Montevideo, Uruguay. Métodos: Se realizó un estudio retrospectivo de las historias clínicas de pacientes con diagnóstico definitivo o sospecha de SAF en un servicio de medicina ambulatoria de enfermedades autoinmunes, en el Hospital Maciel, asistidos entre el 2010 y 2019. Resultados: Se incluyeron 78 pacientes, con edad media de 50,3 ± 14,5 años, 69 (88,5%) correspondió a sexo femenino. Cuarenta y seis (59,0%) pacientes presentaron SAF secundario, de los cuales 28 (35,9%) asociaron LES. La trombosis venosa de miembros inferiores fue la manifestación más frecuente (51,3%). Dieciocho (24,0%) pacientes presentaron trombosis arteriales en forma de accidente cerebrovascular. Cincuenta y nueve (75.6%) casos presentaron, además de las manifestaciones clasificatorias, alguna de las manifestaciones "no criterio" y éstas se manifestaron de forma aislada en 10 (12.8%) pacientes. Las manifestaciones no clasificatorias más frecuentes fueron artralgias, livedo reticularis, migraña y trombocitopenia. Se observó una asociación significativa entre la presencia de anti-ß2GPI con manifestaciones cutáneas y de trombocitopenia con al menos una manifestación trombótica. Conclusiones: Las manifestaciones "no criterio" del SAF se presentaron en casi 3 de cada 4 casos, frecuencia similar a la observada en otras series. La presencia aislada de manifestaciones "no criterio" podrían hacer sospechar un SAF y en algunos casos, conducir a la solicitud de anticuerpos.

Introduction: Antiphospholipid syndrome (APS) is an autoimmune condition characterized by thrombosis, recurrent fetal loss, and antiphospholipid antibodies. There are clinical manifestations not contemplated in the classification criteria, which are called non-criterion manifestations. Objective: To analyze the clinical manifestations of APS, emphasizing the non-criterion manifestations and their relationship with the autoantibody profile in a general hospital in Montevideo, Uruguay. Methods: A retrospective analysis of the medical records of patients with a definitive or suspected diagnosis of APS in an outpatient medicine service for autoimmune diseases, at the Maciel Hospital, assisted between 2010 and 2019, was carried out. Results: 78 patients were included, with a mean age of 50.3 +/- 14.5 years, 69 (88.5%) were female. Forty-six (59.0%) patients presented secondary APS, of which 28 (35.9%) associated SLE. Venous thrombosis of the lower limbs was the most frequent manifestation (51.3%). Eighteen (24.0%) patients presented arterial thrombosis in the form of cerebrovascular accident. Fifty-nine (75.6%) cases presented, in addition to the classification manifestations, some of the "non-criterion" manifestations and these manifested in an isolated way in 10 (12.8%) patients. The most frequent non-classifying manifestations were arthralgia, livedo reticularis, migraine and thrombocytopenia. A significant association was observed between the presence of anti-ß2GPI with cutaneous manifestations and thrombocytopenia with at least one thrombotic manifestation. Conclusions: Non-criterion manifestations of APS occurred in almost 3 out of 4 cases, a frequency similar to that observed in other series. The isolated presence of "non-criterion" manifestations could lead to suspicion of APS and, in some cases, lead to the request for antibodies.

Introdução: A síndrome antifosfolipídica (SAF) é uma doença de origem auto-imune caracterizada por trombose, perdas fetais recorrentes e anticorpos antifosfolípidos (aFL). Existem manifestações clínicas não abrangidas pelos critérios de classificação, que são designadas por manifestações não-critério. Objetivo: Analisar as manifestações clínicas da SAF, enfatizando as manifestações não-critério e sua relação com o perfil de auto-anticorpos em um hospital geral de Montevidéu, Uruguai. Métodos: Foi realizado um estudo retrospectivo dos prontuários de pacientes com diagnóstico definitivo ou suspeita de SAF em um serviço ambulatorial de doenças autoimunes do Hospital Maciel, atendidos entre 2010 e 2019. Resultados: Foram incluídos 78 pacientes, com idade média de 50,3 +/- 14,5 anos, sendo 69 (88,5%) do sexo feminino. Quarenta e seis (59,0%) pacientes apresentavam PFS secundária, dos quais 28 (35,9%) tinham LES associado. A trombose venosa dos membros inferiores foi a manifestação mais frequente (51,3%). Dezoito (24,0%) doentes apresentaram trombose arterial sob a forma de acidente vascular cerebral. Cinquenta e nove (75,6%) casos apresentaram, para além das manifestações classificatórias, algumas das manifestações "não-critério" e estas manifestações foram isoladas em 10 (12,8%) doentes. As manifestações não classificatórias mais frequentes foram artralgias, livedo reticularis, enxaqueca e trombocitopenia. Foi observada uma associação significativa entre a presença de anti-ß2GPI com manifestações cutâneas e trombocitopenia com pelo menos uma manifestação trombótica. Conclusões: As manifestações "não-critério" de SAF ocorreram em quase 3 de cada 4 casos, frequência semelhante à observada noutras séries. A presença isolada de manifestações "não-critério" pode levantar a suspeita de SAF e, nalguns casos, levar à pesquisa de anticorpos.

On the noxious black amazonian scorpion, Tityus obscurus (Scorpiones, Buthidae): taxonomic notes, biology, medical importance and envenoming treatment

Tityus obscurus has caused mild, moderate and severe accidents of medical relevance in the eastern Brazilian Amazon and French Guiana. Tityus obscurus has sexual dimorphism although males and females have uniform black coloration. In the Amazon, one of the habitats of this scorpion is seasonally flooded forests (igapós and várzeas). However, most stings occur in terra firme forest areas (non-flooded region), where most rural communities are located. Adults and children stung by T. obscurus may experience an “electric shock” sensation for more than 30 h after the sting. Our data shows that people inhabiting remote forest areas, including rubber tappers, fishermen and indigenous people, with no access to anti-scorpion serum, use parts of native plants, such as seeds and leaves, against pain and vomiting caused by scorpion stings. Although there is a technical effort to produce and distribute antivenoms in the Amazon, many cases of scorpion stings are geographically unpredictable in this region, due to the lack of detailed knowledge of the natural distribution of these animals. In this manuscript, we compile information on the natural history of T. obscurus and the impact of its envenoming on human health. We identify the natural sites that host this scorpion in the Amazon, in order to warn about the risk of human envenoming. The use of specific antivenom serum is the recommended treatment for accidents involving venomous animals. However, atypical symptoms not neutralized by the available commercial antivenom are reported in the Amazon region. Facing this scenario, we present some challenges to the study of venomous animals in the Amazon rainforest and possible experimental bottlenecks and perspectives for establishing a method aimed at producing an efficient antivenom.

Neuroblastoma with superficial soft tissue mass as the first symptom: case reports with atypical ultrasonic image and literature review

Neuroblastoma is one of the most common tumors in children. Cases where an isolated soft-tissue metastasis mass is the initial symptom are rare, with only four such cases reported to date. We describe the imaging findings of ten cases of neuroblastoma patients in our hospital with superficial soft tissue mass (SSTM) as the primary symptom. The main ultrasound finding of SSTM was hypoechoic masses or scattered speck-like hyperechoic masses. However, when this type of SSTM is caused by soft tissue metastasis, the location is often atypical, and ultrasound findings are difficult to distinguish from other benign diseases. Therefore, this research should remind clinicians to recognize atypical presentations of this common childhood malignant tumor. Radiologists should also consider the possibility of neuroblastoma when finding this type of SSTM with atypical ultrasound features.