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.

Analysis of clinical and pathological characteristics of drug-induced live injury based on hepatotoxicity injury patterns / 临床与实验病理学杂志

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.

Curative Effect Observation of Burosumab for Children and Adults with X-Linked Hypophosphatemicrickets / 罕见病研究

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.

Research progress of dysthyroid optic neuropathy / 国际眼科杂志(Guoji Yanke Zazhi)

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.

Curative Effect Observation of Burosumab for Children and Adults with X-Linked Hypophosphatemicrickets / 罕见病研究

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.

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)

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.

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 vision-related quality of life in pediatric uveitis

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

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.

Clinical analysis of chronic mild occupational carbon disulfide poisoning / 中国职业医学

Objective: To analyze clinical features and electroneuromyography (ENMG) results of chronic mild occupational carbon disulfide poisoning cases. Methods: A total of 344 patients diagnosed with chronic mild occupational carbon disulfide poisoning based on GBZ 4-2002 Diagnostic Criteria of Occupational Chronic Carbon Disulfide Poisoning were selected as study subjects from 2006 to 2019 using the retrospective study method. Their clinical data was collected and analyzed. Results: The main symptoms of the study subjects were dizziness, headache, insomnia, dreaming, memory impairment, numbness and weakness in the distal extremities. Positive signs mainly included symmetrical glove and stocking distribution like sensory disorders in the distal extremities, and the weakening or absent Achilles tendon reflex and knee reflex. The incidence of symptoms and signs increased with the length of service (all P<0.01). The incidence of fundus and venous changes in patients was 41.3%, which increased with the length of service (P<0.01). ENMG examination showed varying degrees of abnormalities in the peripheral motor and/or sensory nerves in all patients, with a higher incidence of motor nerve abnormalities than sensory nerve abnormalities (21.1% vs 3.7%, P<0.01). The incidence of motor nerve abnormality was higher on the right side than the left side (23.7% vs 18.5%, P<0.01). The incidences of motor nerve abnormalities from high to low in the order were median nerve, common peroneal nerve, ulnar nerve and posterior tibial nerve (34.9% vs 27.9% vs 16.6% vs 5.1%, P<0.01). The incidences of sensory nerve abnormalities from high to low in the order were median nerve, ulnar nerve and sural nerve (5.2% vs 5.1% vs 0.7%, P<0.01). The incidences of left ulnar nerve, right ulnar nerve and right median nerve were higher in male patients than in female patients (15.2% vs 5.3%, 24.0% vs 11.7%, 44.8% vs 28.7%, all P<0.05), while the incidences of the left and right common peroneal nerve in lower extremity motor nerve were lower in male patients than in female patients (18.4% vs 52.1%, 21.2% vs 46.8%, all P<0.01). Conclusion: Chronic mild occupational carbon disulfide poisoning was mainly manifested as multiple peripheral nerve injury. ENMG results showed that the distal motor nerve conduction abnormalities were more sensitive than the sensory nerve conduction abnormalities, with a higher degree of impairment in the upper limb than the lower limb, and more impairment in the right side than the left side.

Epidemiological and clinical characteristics of 49 children with severe hemorrhagic fever with renal syndrome / 中国小儿急救医学

Objective:To understand the epidemiological and clinical characteristics of children with severe and critical hemorrhagic fever with renal syndrome(HFRS), and to accumulate experience in the diagnosis and treatment of severe and critical HFRS in children.Methods:A retrospective analysis method was used to collect the clinical data of 49 children diagnosed with HFRS, who were admitted to the Department of Infectious Diseases, Children′s Hospital Affiliated to Xi′an Jiaotong University from January 2019 to December 2021 and classified as severe or critical group.The epidemiological data, characteristics, clinical manifestations, laboratory examinations, diagnosis and treatment outcomes of the children were analyzed.Results:Among the 49 children with severe HFRS, the ratio of male∶female was 3.45∶1(38∶11), the median age was 10 years and 8 months old, and the highest proportion was 6-12 years old.The peak incidence was in November and December(75.51%).Most of them lived in rural areas, with a total of 39 cases(79.59%).All patients had fever onset, gastrointestinal symptoms(vomiting, abdominal pain, diarrhea, 81.63%)and hyperemia of skin and mucous membranes(77.55%)were common, but typical headache, backache pain and orbital pain(three pains)only accounted for 15 cases(30.6%).Laboratory test results: the white blood cells in routine blood increased in 42 cases(85.71%), while the platelets decreased in 47 cases(95.91%).The procalcitonin was increased in 48 cases(97.95%).The alanine aminotransferase was elevated in 49 cases(100%), while the albumin of 38 cases(77.55%)were lower than 30 g/L.The urea nitrogen increased in 34 cases(69.38%), and the creatinine increased in 47 cases(95.91%).The creatine kinase isozyme was elevated in 41 cases(83.67%).Forty-nine children had different degrees of electrolyte imbalance, among which low sodium(91.83%)and low calcium(85.71%)were the most common.The urine protein was positive in 47 cases(95.91%), and the urine red blood cell was positive in 38 cases(77.55%).Ultrasonography of the urinary system revealed abnormalities in the kidneys and surrounding kidneys in 43 cases(91.48%).Twenty-eight(58.33%)patients had abnormal electrocardiogram.All the 49 patients were clinically cured.Conclusion:Severe HFRS is mainly in rural male children aged 6-12 years, mainly with fever and gastrointestinal symptoms, lack of typical three pain symptoms.When white blood cell count and procalcitonin significantly increased, platelet count significantly decreased, liver and kidney function impaired and electrolyte imbalance, severe cases should be highly suspected.Early identification of critically ill children and active treatment are critical to their prognosis.

Research progress of the re-emerging monkeypox epidemic / 中华临床感染病杂志

The first global outbreak of monkeypox in non-epidemic regions occurred in May 2022, and the World Health Organization defined it as a public health emergency of international concern in July 2022. Compared with previous outbreaks of monkeypox in Africa, the current one is different in etiology, epidemiology and clinical characteristics. This article reviews the features of the latest outbreak of monkeypox, and the currently available antiviral treatment and vaccines, so as to provide reference for the prevention and treatment of monkeypox.

Iso-Kikuchi syndrome: report of two cases / 中华皮肤科杂志

To report 2 cases of Iso-Kikuchi syndrome, both of which were congenital. Case 1, a 7-month-old female infant, visited the hospital due to abnormalities in the nail plate of the left index finger for 7 months; case 2, a 3-year-old male child, also visited the hospital due to abnormalities in the nail plate of the left index finger for 3 years. The 2 patients both presented with 2 tiny, independent nail plates on both sides of the nail bed of the left index finger, instead of normal nail plates. Based on their clinical features, the 2 patients were diagnosed with Iso-Kikuchi syndrome (congenital onychodysplasia of the index finger). The mother of case 1 had a history of progesterone use to prevent miscarriage during pregnancy, the mothers of the two patients both suffered from hypothyroidism and continued to receive thyroid hormone replacement therapy during pregnancy, and the mother of case 2 had a history of gestational diabetes. It is still unclear whether these comorbidities and drugs are directly related to the occurrence of Iso-Kikuchi syndrome.

Clinical characteristics and prognosis of posterior reversible encephalopathy syndrome with spinal cord involvement / 中华神经科杂志

Objective:To investigate the clinical manifestations, imaging features and prognosis of posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI).Methods:The clinical data of 1 patient with PRES-SCI admitted to the Department of Neurology of the First Affiliated Hospital of Zhengzhou University in November 2021 were analyzed, and the data of 38 patients with PRES-SCI reported in domestic and foreign databases and this patient were collected for pooled analysis.Results:The main clinical manifestations of 39 PRES-SCI patients (including this patient) included headache (79.5%, 31/39), visual disturbance (79.5%, 31/39), vomiting (46.2%, 18/39), disturbance of consciousness (38.5%, 15/39), limb weakness (28.2%, 11/39) and seizure (23.1%, 9/39). There were up to 97.4% (38/39) of patients who had significantly elevated blood pressure. The imaging feature was long-segment spinal cord lesion involving central gray matter. Approximately 89.7% (35/39) of the spinal cord lesions originated from the junction of the medulla oblongata and the cervical spinal cord. The median number of abnormal spinal cord segments corresponding to the vertebral body was 9 (the shortest was 4 and the longest was the entire spinal cord). Thirty-eight patients had brain lesions, and the most frequently involved sites were medulla oblongata (82.1%, 32/39), occipital lobe (46.2%, 18/39), pons (43.6%, 17/39), parietal lobe (41.0%, 16/39), and cerebellum (38.5%, 15/39). Among 38 patients completing the follow-up, 31 patients (81.6%) were clinically recovered.Conclusions:Posterior reversible encephalopathy syndrome could involve the spinal cord. For patients with long-segment spinal cord lesions and significantly increased blood pressure or other risk factors, PRES-SCI should be considered. Timely identification and treatment could make most patients recovery.

Research progress of hydroxychloroquine retinopathy / 中华眼底病杂志

Hydroxychloroquine is widely used in a variety of autoimmune diseases. However, long-term use of hydroxychloroquine can cause severe retinopathy, which has a complex pathogenic mechanism and diverse clinical manifestations, mainly manifested as photoreceptor and retinal pigment epithelial damage and irreversible vision loss. Identifying damage before retinitis pigment epithelium lesions preserve central vision, so early detection is crucial to slow disease progression and reduce vision loss. The development of multimodal imaging technology and the issuance of the latest treatment guidelines provide a powerful tool for the early screening and treatment of hydroxychloroquine retinopathy. Proficient in the latest guidelines for the treatment of hydroxychloroquine can better guide clinicians to do a good job in disease screening and management, recommend risks, safe dosages and appropriate screening procedures to patients and strengthen the prevention of hydroxychloroquine retinopathy, which will help save the vision of more patients and reduce the waste of medical resources.

Clinical manifestations and genetic mutation analysis of 20 patients with congenital Fibrinogen disorders / 中国输血杂志

【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.

Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity / 罕见病研究

  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.

Clinical analysis of six cases of papular acantholytic dyskeratosis of the anogenital area / 中华皮肤科杂志

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.