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RESUMEN Introducción: lepra (enfermedad de Hansen) es una patología infecciosa desatendida que afecta piel y nervios periféricos, desencadenando neuropatías y complicaciones como deformidades y discapacidades. Objetivos: determinar características epidemiológicas y clínicas de pacientes con lepra en el Centro de Especialidades Dermatológicas del Ministerio de Salud Pública y Bienestar Social de Paraguay, de enero 2021 a diciembre 2022. Metodología: estudio descriptivo, observacional, retrospectivo, de corte transversal. La gestión y análisis de datos se realizó en planilla electrónica (Excel del programa Microsoft Office 365 versión 2405), luego se realizó estadística descriptiva. Resultados: se diagnosticaron 123 casos de lepra, 45 (36,58 %) eran mujeres y 78 (63,42 %) varones; las edades estaban entre 17 y 86 años, el rango más afectado fue de 41 a 50 años. Eran lepra multibacilar 112 casos (91,06%). El signo más frecuente fue la placa infiltrada, presentada en 88 casos (71,54%). 58 pacientes (47,15%) presentaron reacciones lepromatosas, siendo, 31 casos de tipo 1 (53,45 %). 34 casos (27,64%) presentaron discapacidad grado 1 y 10 casos (8,13%) discapacidad grado 2. Conclusión: el perfil del paciente con lepra fue del sexo masculino entre 41 a 50 años, siendo la mayoría casos multibacilares. Es fundamentales el diagnóstico precoz y el tratamiento adecuado para reducir la carga de la enfermedad y las discapacidades.
ABSTRACT Introduction: Leprosy (Hansen's disease) is a neglected infectious disease that affects skin and peripheral nerves, triggering neuropathies and complications such as deformities and disabilities. Objective: determine epidemiological and clinical characteristics of patients with Leprosy in the Dermatological Specialties Center of the Ministry of Public Health and Social Welfare of Paraguay, from January 2021 to December 2022. Methodology: descriptive, observational, retrospective, cross-sectional study. Data management and analysis was carried out in an electronic spreadsheet (Excel from Microsoft Office 365 version 2405), then descriptive statistics were performed. Results: 123 cases of leprosy were diagnosed, 45 (36.58 %) were women and 78 (63.42 %) were men; the ages were between 17 and 86 years, the most affected range was 41 to 50 years. 112 cases (91.06 %) were multibacillary leprosy. The most frequent sign was infiltrated plaque, present in 88 cases (71.54 %). 58 patients (47.15 %) presented lepromatous reactions, 31 cases of type 1 (53.45 %). 34 cases (27.64 %) presented grade 1 disability and 10 cases (8.13 %) grade 2 disability. Conclusion: The profile of the patient with leprosy was male between 41 and 50 years, the majority being multibacillary cases. Early diagnosis and adequate treatment are essential to reduce the burden of the disease and disabilities.
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Humains , Mâle , Femelle , Enfant , Adolescent , Adulte , Adulte d'âge moyen , Sujet âgé , Sujet âgé de 80 ans ou plus , Paraguay/épidémiologie , Lèpre multibacillaire/diagnostic , Lèpre multibacillaire/prévention et contrôle , Lèpre multibacillaire/traitement médicamenteux , Lèpre paucibacillaire/traitement médicamenteux , Lèpre/épidémiologie , Rifampicine/usage thérapeutique , Clofazimine/usage thérapeutique , Dapsone/usage thérapeutique , Lèpre paucibacillaire/diagnostic , Lèpre paucibacillaire/prévention et contrôle , Maladies négligéesRÉSUMÉ
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.
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Attention-deficit hyperactivity disorder (ADHD), which is a disorder affecting children worldwide, has lasting effects on their behavior and cognitive functions. This review will explore the complexities of ADHD in children, including its classification, manifestations and management strategies. We will discuss the subtypes of ADHD and how they present challenges in various aspects of a child's life. From difficulties with attention to hyperactivity and impulsivity these subtypes have profiles that impact academic performance, social interactions and emotional regulation. The symptoms of ADHD intertwine inattentiveness, hyperactivity, impulsivity, emotional instability and academic struggles in patients. These symptoms significantly affect a child's functioning across areas such as schoolwork, social life and emotions. To effectively manage ADHD in children requires an approach that combines medication options with interventions, educational support systems tailored to individual needs and parental support programs that emphasize collaboration between healthcare professionals and families. This comprehensive approach seeks to address the requirements of children dealing with ADHD. Its goal is not to reduce symptoms but to improve their long-term outcomes and overall quality of life. By explaining the nature of ADHD in children, this analysis aims to provide an understanding of the disorder. It highlights the significance of customized interventions, early detection, and continuous support in order to enhance the well-being and developmental path of affected children.
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Cardiovascular diseases continue to be a contributor to mortality highlighting the significance of intervention. Nurses are often the first healthcare professionals to assess patients and their ability to identify symptoms and deviations in signs is essential for early detection of cardiac distress. Many individuals encounter symptoms such as discomfort in the chest, trouble with breathing, irregularities, heartbeat and increased fatigue. These symptoms can be signs of events. Nurses’ attentiveness in monitoring these symptoms and vital signs enables response and lifesaving interventions. Furthermore, advancements in healthcare technology like automated monitoring systems and telehealth platforms enhance nurse’s ability to detect events by allowing real time data collection and remote monitoring. This review explores the role that nurses play in detecting events early on with a specific focus, on monitoring vital signs like blood pressure and heart rate. The comprehensive management of events encompasses accurate diagnosis, evidence-based treatment, patient education and modification of risk factors. The expertise and constant vigilance of nurses significantly contribute to improving care and enhancing patient outcomes. As healthcare technology continues to advance nurses role in detecting events becomes even more crucial solidifying their indispensable position, in promoting heart health.
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Sepsis is a condition that occurs when the body's response to infection becomes unbalanced and potentially life-threatening. In this study, there is a focus on understanding and addressing sepsis. This detailed review explores how sepsis is defined in its prevalence in populations and how it is present clinically. The development of sepsis involves a series of events triggered by infections resulting in inflammation and dysfunction in organs. The symptoms of sepsis can range from signs like fever and changes in state to more severe complications such as septic shock. Early recognition of these symptoms using criteria like Systemic inflammatory response syndrome (SIRS) is crucial for intervention, which can greatly impact patient outcomes. Various diagnostic markers, imaging techniques and a deeper understanding of the pathophysiology behind sepsis have contributed to identification and targeted treatment approaches. Managing sepsis involves a combination of therapy, support for blood circulation, respiratory interventions and careful use of agents that modulate the system. It's important to emphasize the efforts among healthcare professionals from disciplines when it comes to managing sepsis effectively. Providing follow up care is essential for survivors as they may experience long term consequences such as sepsis syndrome. Due to its impact on health ongoing research is necessary to explore therapeutic options and refine existing strategies for managing sepsis effectively. The field continues to evolve with advancements, in precision medicine host directed therapies and interdisciplinary collaboration playing roles. This review seeks to grasp the concept of sepsis, providing insights into its various aspects, including the difficulties, in diagnosis and the ever-evolving treatment strategies.
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Purpose To explore the clinical and pathologi-cal features and the relationships between pathological features and drugs of patients with drug-induced liver injury(DILI)based on the hepatotoxicity injury patterns.Methods The clin-ical data,laboratory indicators,drugs,and liver biopsy of 50 cases of DILI were collected,the expression of CK19 was detec-ted by immunohistochemistry EnVision two-step method,and the reticular scaffold of liver tissue was displayed by Reticular fiber staining.Results Among the 50 patients with DILI,there were 29 cases of hepatocellular DILI,11 cases of cholestatic DILI,and 10 cases of mixed DILI,respectively,with the hepatocellu-lar DILI accounting for the highest proportion(58%).7 catego-ries of drugs induced DILI,with herbal ranking first(52%).Different types of drugs could cause different types of DILI,with herbal induced 17 cases hepatocellular DILI(58.62%)and an-ti-infectious and anticancer drugs induced all 3 cases cholestatic DILI(27.27%).Different types of DILI displayed various pathological characteristics.Hepatocellular congestion,feathery degeneration,and small bile duct thrombosis primarily occur in cholestasis and mixed DILI,while bridging necrosis,sub-large and large necrosis were mainly seen in hepatocellular DILI.Conclusion Based on hepatotoxicity injury patterns,DILI ex-hibits a variety of clinical and pathological characteristics,and there is some relationship between pathological characteristics and drugs.Liver puncture pathological biopsy plays an important role in improving the diagnosis and treatment of DILI.
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We studied the patients diagnosed with X-linked hypophosphatemicrickets(XLH) and treated with burosumab in Peking Union Medical College Hospital from January 2021 to December 2022. In addition, we described the clinical characteristics of the patients, the changes of clinical indexes before and after burosumab treatment, and the adverse drug reactions during treatment. We also evaluated the efficacy and safety of burosumab for XLH. The results showed that three children XLH patients and one adult XLH patients received burosumab treatment. After treatment, the serum phosphorus level of all patients increased; the serum phosphorus of 3 children patients increased above the lower limit of the reference value range; the serum alkaline phosphatase(ALP) of all patients was lower than that of before treatment; the serum ALP of one adult patient was close to the normal range after 2.5 years of treatment. One child patient showed small crystals in kidney through ultrasound 48 weeks after treatment; one child and one adult showed increased serum parathyroid hormone(PTH)level before treatment and serum PTH continued increasing after treatment. Finally, it may be concluded that burosumab increased serum phosphorus levels in XLH patients, kept the level relatively stable, and reduced serum ALP levels. No serious adverse reactions occurred during treatment, in order to provide reference for the use of burosumab in patients with XLH.
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We studied the patients diagnosed with X-linked hypophosphatemicrickets(XLH) and treated with burosumab in Peking Union Medical College Hospital from January 2021 to December 2022. In addition, we described the clinical characteristics of the patients, the changes of clinical indexes before and after burosumab treatment, and the adverse drug reactions during treatment. We also evaluated the efficacy and safety of burosumab for XLH. The results showed that three children XLH patients and one adult XLH patients received burosumab treatment. After treatment, the serum phosphorus level of all patients increased; the serum phosphorus of 3 children patients increased above the lower limit of the reference value range; the serum alkaline phosphatase(ALP) of all patients was lower than that of before treatment; the serum ALP of one adult patient was close to the normal range after 2.5 years of treatment. One child patient showed small crystals in kidney through ultrasound 48 weeks after treatment; one child and one adult showed increased serum parathyroid hormone(PTH)level before treatment and serum PTH continued increasing after treatment. Finally, it may be concluded that burosumab increased serum phosphorus levels in XLH patients, kept the level relatively stable, and reduced serum ALP levels. No serious adverse reactions occurred during treatment, in order to provide reference for the use of burosumab in patients with XLH.
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Dysthyroid optic neuropathy is an important secondary pathological condition of thyroid-associated ophthalmopathy, characterized clinically by several clinical manifestations, including reduced visual acuity, impairment of color vision, relative afferent pupillary defect, and optic disk edema or atrophy. Ophthalmological auxiliary examination shows abnormal vision field and visual evoked potential, etc., and imagining examination shows orbital apex crowding, which can assist diagnosis. The pathogenesis of this disease is still unclear. With previous studies proposing that it was related to optic nerve compression, stretch, and ischemia. Treatment methods include high-dose intravenous glucocorticoid, orbital decompression, orbital radiation therapy, and biological agent. This article systematically reviews the research progress on the epidemiological characteristics, pathogenesis, diagnosis, and treatment of this disease, with a view to providing useful reference for future in-depth clinical practice and scientific research.
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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)
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Humains , Mâle , Femelle , Adulte , Infarctus cérébral/classification , Infarctus cérébral/diagnostic , Infarctus cérébral/étiologie , Facteurs de risque , Jeune adulteRÉSUMÉ
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.
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Humains , Mâle , Nourrisson , Prématuré , Réaction transfusionnelle , Oedème pulmonaire lésionnel aigu post-transfusionnel , Syndrome de détresse respiratoire du nouveau-né , Signes et symptômes , AnémieRÉSUMÉ
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.
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Purpose: To analyze clinical manifestations, visual ability, and quality of life in pediatric uveitis and to explore factors affecting visual ability and quality of life. Methods: This cross?sectional study included 40 patients with pediatric uveitis in the database of Ophthalmology of Peking University First Hospital. All patients completed the Cardiff visual ability questionnaire for children (CVAQC) and pediatric quality of life inventory measurement models (PedsQL4.0). Results: A total of 40 cases (68 eyes) with pediatric uveitis were included in this study. Better visual acuity in the better eye was predictive of lower CVAQC, education, and distance vision scores. Better visual acuity in the worse eye was predictive of a lower CVAQC score and distance vision. Better CVAQC scores were predictive of lower PedsQL4.0, physical health, psychosocial health, and school functioning scores. Conclusion: Patients with pediatric uveitis tend to be seriously affected by ocular complications. The visual ability of patients with pediatric uveitis decreases significantly. Better visual acuity in the better eye is associated with better total visual ability, education, and distance vision. Better visual acuity in the worse eye is associated with better total visual ability and distance vision. Health?related quality of life is related to vision ability in pediatric uveitis
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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.
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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.
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【Objective】 To retrospectively analyze the clinical manifestations, related laboratory examinations and gene mutation of 20 patients with congenital Fibrinogen disorders (CFD) admitted to our hospital from February 2017 to December 2021, so as to improve the understanding of CFD diagnosis. 【Methods】 Clinical characteristics and laboratory examination of 20 CFD patients were collected, and common secondary hypoFibrinemia factors were excluded. Gene sequencing was performed on all exons and flanks of FGA, FGB and FGG genes of 20 patients to find gene mutation sites. The peripheral blood genomic DNA was collected from the family members of two CFD patients, and the genes of the corresponding mutation sites of the proband were detected. 【Results】 The 20 CFD patients had no history of bleeding; 11 female patients had no history of spontaneous abortion; all 20 patients had reduced Fib and prolonged thrombin time (TT). There were 13 gene mutations of different types in 20 patients, among which 90% (18/20) were missense mutations, 5% (1/20) was deletion mutation, and 5% (1/20) was frameshift mutation. Seven patients (35%) had Arg35His mutation at site 104 of the FGA chain, among which 3 new gene mutations have not been reported in China. 【Conclusion】 Most CFD patients with mild or asymptomatic symptoms can be diagnosed by genetic testing and screening. FGA chain Arg35His is a mutation hotspot in this region, and all of them are Uyghur. Whether the mutation of this site is related to ethnicity needs to be confirmed by further studies.
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Objective To summarize the clinical manifestations, pathological features and gene mutation diversity of Blau syndrome/early-onset sarcoidosis. Methods We collected general data, clinical manifestations, and auxiliary examination results from 8 patients who were diagnosed of Blau syndrome/early-onset sarcoidosis and treated in our hospital from January 2011 to December 2022, and then summarized and analyzed their characteristics and diversity. Results Among the 8 patients, 4 were males and 4 were females. The onset age was 3 to 8 months old. Rash was the first symptom in 7 patients(87.5%). 6 patients(75.0%) had papules and erythema.3 cases(37.5%) had arthritis. 2 cases(25.0%) had uveitis and other eye inflammation. 4 cases (50.0%) also showed intermittent fever. 3 cases (37.5%) showed symptoms in nerve and respiratory system, and hypertension respectively. The skin histopathology of 8 patients showed non-caseous granuloma formation. In laboratory detection, CRP and TNF-α were significantly increased before treatment, while IL-6, IL-8, TNF-α and IL-2 receptor(IL-2R) were significantly decreased in 5 patients after glucocorticoid therapy. The results of genetic testing showed that 4 of the 7 patients had p.R334W(c.1000C > T) mutation, 1 had p.H313R(c.938A > G) and p.R471C(c.1411C > T)double mutation, and 1 had p.476_477del (c.1427_1429delcct). Conclusions Blau syndrome/early-onset sarcoidosis has significant features in clinical manifestations, histopathology and gene mutation, but it also has diversity.
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Objective:To analyze clinical and pathological features of 6 cases of papular acantholytic dyskeratosis of the anogenital area.Methods:Clinical and histopathological data were collected from 6 patients with papular acantholytic dyskeratosis of the anogenital area in the Department of Dermatology, Peking University Third Hospital from January 2013 to December 2022, and retrospectively analyzed.Results:Among the 6 patients, 3 were males and 3 were females. Their ages at onset ranged from 22 to 58 years. The time from the onset to diagnosis ranged from 1 to 18 months. All patients had no family history of similar skin lesions. The 6 patients all clinically presented with multiple clustered millet-sized flesh-colored or gray-whitish papules in the perianal and genital areas, with erosions and crusts on the surface of some lesions, sometimes accompanied by pruritus. Histopathological findings of skin lesions were similar, including hyperkeratosis with focal parakeratosis, as well as acantholytic and dyskeratotic cells scattered in the epidermis. The 6 patients were treated with topical glucocorticoids or tacrolimus ointment, etc., which exhibited varying efficacy, and some skin lesions persisted with repeated attacks.Conclusions:Papular acantholytic dyskeratosis was a rare skin disease, and mostly occurred in the anogenital area. Its diagnosis should rely on both clinical manifestations and histopathological findings.
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Objective:To analyze clinical and histopathological features of malignant transformation of congenital melanocytic nevi (CMN) .Methods:From January 2010 to September 2020, 98 patients with clinically and pathologically confirmed malignant transformation of CMN were enrolled from Xijing Hospital, Air Force Medical University, and their clinical and histopathological features as well as immunohistochemical staining and genetic testing results were retrospectively analyzed.Results:Among the 98 patients with malignant transformation of CMN, 45 (45.9%) were males and 53 (54.1%) were females. Their ages ranged from 4 months to 86 years, with a median age of 47 years. The lesions were located on the trunk (34 cases, 34.7%), limbs (25 cases, 25.5%), acra (24 cases, 24.5%), head, face and neck (13 cases, 13.3%), and mucosa (2 cases, 2.0%). Among the 98 patients, 95 (96.9%) had a history of obvious changes in lesions (sudden enlargement, newly developed papules, ulceration, itching, or pain), and the interval time from obvious changes in lesions to diagnosis varied from 2 weeks to 5 years; among the 95 cases, the average age at the onset of obvious changes in lesions was 46 years, and the changes of lesions occurred before the age of 18 years in 4 cases (4.1%), occurred between the age of 18 and 40 years in 35 (35.7%), and occurred after the age of 40 years in 56 (57.1%). In addition, 55 (57.9%) patients experienced a sudden enlargement of primary lesions, 52 (54.7%) developed ulcers in the primary lesions, 21 (22.1%) developed red or black papules or nodules on the surface of primary lesions, 4 (4.2%) developed subcutaneous masses, 2 (2.1%) had itching, and 1 (1.1%) only had pain. The remaining 3 (3.1%) patients experienced slow enlargement of primary lesions. Among the 98 cases of melanoma originating from CMN, 85 (86.7%) arose from small CMN, 11 (11.2%) from medium CMN, and 2 (2.0%) from large CMN. Histopathological examination showed no residual nevus cells in 86 (87.8%) cases, which only had characteristics of typical melanoma; residual nevus cells were only seen in 12 (12.2%) cases, and melanoma cells in the 12 cases all expressed HMB45, while residual nevus cells did not express HMB45 in 11 of 12 cases. Immunohistochemical staining for 5-hydroxymethylcytosine (5hmC) was conducted in 7 cases, and 6 showed negative staining in tumor cells and positive staining in residual nevus cells. BRAF gene detection was conducted in lesional tissue specimens from 22 patients, and it was negative in 1 case of melanoma originating from large CMN and 10 (47.6%) cases of melanoma from small CMN, and positive in 11 (52.4%) cases of melanoma from small CMN.Conclusion:The malignant transformation of CMN mostly occurred on the trunk, and was commonly observed in patients aged over 40 years; most patients had a history of obvious changes (sudden enlargement, newly developed papules, ulceration, etc.) in lesions before diagnosis, and a few patients only felt itching or pain in lesions; immunohistochemical staining of HMB45 and 5hmC could help to distinguish melanoma cells from dermal nevus cells; confirmation of the diagnosis of malignant transformation in CMN should be closely combined with clinical and histopathological results.
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The global pandemic of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has had a catastrophic impact on human life and economic life. Due to the combination of multiple underlying diseases and low vaccination rates, dialysis patients are susceptible to SARS-CoV-2 infection and are likely to have more severe illness and even death. Moreover, dialysis patients with SARS-CoV-2 infection may initially present as asymptomatic or with mild symptoms, which makes it very difficult to identify severe patients at an early stage. Here, the epidemiology, clinical characteristics, risk factors for prognosis, vaccination and therapeutic strategies of dialysis patients with SARS-CoV-2 infection were summarized and analyzed, and it is hoped to provide a reference for the diagnosis and treatment of SARS-CoV-2 infection in this special group of patients.