Lesión pulmonar aguda producida por transfusión (TRALI): Reporte de caso

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

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.

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.

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.

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.

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.

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 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.

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 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.

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.

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.

Fibromialgia en la nueva era de la infección por SARS-CoV-2 y el síndrome post-COVID-19: una revisión exploratoria / no

Introducción: La fibromialgia es un síndrome caracterizado por dolor crónico generalizado, rigidez articular, trastornos del sueno, fatiga, ansiedad y episodios depresivos, cuyas manifestaciones clínicas comienzan después de un trauma físico o emocional. Pese a ello, son escasas las publicaciones que describen el impacto clínico de la COVID-19 en los síntomas de fibromialgia. Objetivo: Mapear la evidencia médica disponible sobre el impacto de la COVID-19 y el síndrome post-COVID en pacientes con y sin diagnóstico de fibromialgia previo a la infección. Materiales y métodos: Revisión sistemática exploratoria en PubMed y Scopus, considerando artículos en inglés y en español, con datos sobre la fibromialgia en población sobreviviente a la infección por SARS-CoV-2. Se revisaron los registros de ensayos clínicos de las bases de datos de la Organización Mundial de la Salud. Resultados: Se incluyeron 12 artículos publicados: estudios retrospectivos (n = 4), transversales (n = 2), casos y controles (n = 2), estudios cualitativos (n = 2), cohorte prospectiva (n = 1) y corte longitudinal (n = 1). La población total fue de 3.060 pacientes. Además, se incluyeron registros de un ensayo clínico controlado aleatorizado, un estudio observacional tipo transversal y uno de casos y controles. La suma total de la población estudiada fue de 173 participantes. Conclusión: Los pacientes sobrevivientes a la COVID-19 con o sin diagnóstico previo de fibromialgia pueden presentar un aumento del dolor crónico, insomnio, rigidez articular y deterioro en la calidad de vida. La población con antecedente de fibromialgia puede verse más afectada por estrés psicológico, lesión tisular a estructuras neuromusculares e inflamación por la infección por SARS-CoV-2.

Introduction: Fibromyalgia is a syndrome characterized by chronic generalized pain, joint stiffness, sleep disorders, fatigue, anxiety and depressive episodes, whose clinical manifestations begin after a physical or emotional trauma. However, few publications describe the clinical impact of COVID-19 on fibromyalgia symptoms. Objective: To map the available medical evidence on the impact of COVID-19 and PCS in patients with and without a diagnosis of fibromyalgia prior to infection. Materials and methods: Exploratory systematic review in PubMed and Scopus, considering COVID-19 Fibromyalgia SARS-CoV-2 articles in English and Spanish, with data on fibromyalgia in the population surviving SARS-CoV-2 infection. The clinical trial records of the World Health Organization databases were reviewed. Results: Twelve published articles were included: retrospective studies (n = 4), cross-sectional (n = 2), cases and controls (n = 2), qualitative studies (n = 2), a prospective cohort (n = 1) and a longitudinal section study (n = 1). The total study population of the included publications was 3,060 patients. In addition, one randomized controlled clinical trial and two observational cross-sectional and case-control studies were included. The total sum of the study population was 173 participants. Conclusion: Survivors of COVID-19 with or without a previous diagnosis of fibromyalgia may present an increase in chronic pain, insomnia, joint stiffness, and deterioration in quality of life. The population with a history of fibromyalgia may be more affected by psychological stress, tissue damage to neuromuscular structures, and inflammation due to SARS-CoV-2 infection.

Escorpionismo en pediatría: estudio descriptivo, transversal y retrospectivo de factores predictores de gravedad / Pediatric scorpionism: a descriptive, cross-sectional, and retrospective study of predictors of severity

Introducción. El emponzoñamiento por Tityus carrilloi n. sp. representa una amenaza para la vida. Según las manifestaciones clínicas, se clasifica en leve, moderado y grave. Objetivo. Comparar las características epidemiológicas y bioquímicas en niños con escorpionismo leve, moderado y grave. Población y métodos. Estudio descriptivo, transversal y retrospectivo. Se analizaron las consultas de menores de 15 años picados por Tityus carrilloi n. sp. entre enero de 2017 y diciembre de 2018 en un hospital pediátrico de tercer nivel en Santa Fe (Argentina). Resultados. Se incluyeron 524 niños, el 81 % (421) con dolor local y el 19 % (103) con manifestaciones sistémicas. Los niños con síntomas sistémicos de escorpionismo fueron más pequeños en edad que los que presentaron manifestaciones locales (p <0,001). En el invierno los niños desarrollaron 8 veces más manifestaciones sistémicas de escorpionismo y durante la primavera, 2,4 veces más que durante el verano. De los 103 niños internados, 80 fueron casos moderados y 23, graves. No hubo diferencias entre grupos en edad (p = 0,29) ni en la demora en recibir suero antiescorpiónico (p = 0,81). El tiempo de internación fue mayor en los graves (p <0,001). Los valores de glóbulos blancos o glucemia mayores a 30 000 cel/ml y 300 mg/dl respectivamente estuvieron presentes casi exclusivamente en escorpionismos graves. Conclusión. En niños picados por el escorpión Tityus carrilloi n. sp., el riesgo de desarrollar manifestaciones sistémicas fue mayor cuanto menor fue la edad y durante el invierno y la primavera. Los valores de glóbulos blancos y de glucemia fueron mayores en niños con escorpionismo grave.

Introduction. Scorpion envenomation by Tityus carrilloi n. sp. represents a threat to life. Depending on its clinical manifestations, it is classified as mild, moderate or severe. Objective. To compare the epidemiological and biochemical characteristics among children with mild, moderate, and severe scorpionism. Population and methods. Descriptive, crosssectional, and retrospective study. The consultations at a tertiary care children's hospital in Santa Fe (Argentina) of children under 15 years of age stung by Tityus carrilloi n. sp. between January 2017 and December 2018 were analyzed. Results. In total, 524 children were included, 81% (421) with local pain and 19% (103) with systemic manifestations. Children with systemic symptoms of scorpionism were younger in age than those with local manifestations (p < 0.001). In the winter, children developed 8 times more systemic manifestations of scorpionism; during the spring, 2.4 times more than during the summer. Out of the 103 hospitalized children, 80 were moderate cases and 23 severe cases. There were no differences between age groups (p = 0.29) or in the delay in receiving the anti-scorpion serum (p = 0.81). The length of hospital stay was longer among severe cases (p < 0.001). WBC and blood glucose levels higher than 30 000 cell/mL and 300 mg/dL, respectively, were present almost exclusively in severe scorpionism cases. Conclusion. In children stung by the scorpion Tityus carrilloi n. sp., the younger the age and during winter and spring, the higher the risk for systemic manifestations. WBC and blood glucose levels were higher in children with severe scorpionism.

Características clínico-epidemiológicas de los pacientes con esclerosis sistémica / Clinical-epidemiological characteristics of patients with systemic sclerosis

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 características clínico-epidemiológicas 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, transversal en 73 pacientes. Se evaluaron variables sociodemográficas como la edad, sexo, color de la piel, nivel educacional y ocupación, variables clínicas como forma de presentación y tiempo de diagnóstico de la enfermedad, manifestaciones clínicas, las comorbilidades asociadas y el tratamiento. Resultados: El 57,5 por ciento presentó la forma difusa de la enfermedad y el 48,8 por ciento tenían más de 10 años de diagnóstico. La afectación digestiva en el 94,5 por ciento, la osteomioarticular en el 89,0 por ciento y las cardiovasculares en el 87,7 por ciento fueron las más representadas por órganos y sistemas. Conclusiones: Predominó la forma difusa de la enfermedad, los enfermos con más de 10 años de diagnóstico y la afectación cutánea, digestiva y osteomioarticulares. La HTA seguida de la fibromialgia fueron las comorbilidades más identificadas. Los anti cálcicos, IECA, esteroides y el Metotrexate fueron los fármacos más utilizados en el tratamiento(AU)

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-epidemiological characteristics of the 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, skin color, educational level and occupation, clinical variables such as form of presentation and time of diagnosis of the disease, clinical manifestations, associated comorbidities and treatment were evaluated. Results: 57.5 percent presented the diffuse form of the disease and 48.8 percent had more than 10 years of diagnosis. Digestive involvement in 94.5 percent, osteomyoarticular disease in 89.0 percent, and cardiovascular disease in 87.7 percent were the most represented by organs and systems. Conclusions: The diffuse form of the disease predominated, patients with more than 10 years of diagnosis and skin, digestive and osteomyoarticular involvement. HT followed by fibromyalgia were the most identified comorbidities. Anti-calcium, ACEI, steroids and Methotrexate were the drugs most used in treatment(AU)

Co(rpo)memoração: fixação e regressão a traços de memória deixados no corpo / In-body memory: from fixation and regression to memory traces left in the body / Co(rps)mémoration: de la fixation et de la regresssion aux traces de mémoire laissés laissés sur le corps / C(uerp)onmemoración: fijación y regresión a las huellas de memoria que quedan en el cuerpo

O trauma, como co(rpo)memoração, será abordado, neste trabalho, na perspectiva psicanalítica, com base nos desdobramentos que se manifestam em "atos" no corpo que tomam o lugar da elaboração psíquica. Perspectiva na qual a repetição se apresenta sob a modalidade da fixação a um gozo "além" e da regressão como uma espécie de memória que evita o encontro com o novo e retorna a traços de memória deixados no corpo. Para tanto, será tomado como referência o pesadelo vivido e narrado pela ativista Eve Ensler, no relato de cunho testemunhal, em seu livro No corpo do mundo: um livro de memórias (2014). Ensler fala da relação profundamente íntima e dolorosa que tem com seu corpo e como esta mudou ao longo de sua vida, depois de conviver com mulheres que tinham experimentado a violência e o sofrimento da violação de seus corpos.

Resumos This paper discusses trauma as an in-body memory based on ramifications that are manifested as "acts" in the body, and which replace psychic elaborations. In thispsychoanalytic perspective, repetition is manifested as fixation to a joissance "beyond" and as regression as a kind of memory that avoids the new and looks to traces of past memory left in the body. To this end, the nightmare lived and narrated by activist Eve Ensler in her book In the body of the world: A memoir (2014), will be used as reference. Ensler speaks of the deeply intimate and painful relationship she has with her body and how it changed throughout her life, after spending time with women victims of sexual violence.

Cet article traite du traumatisme, comme co(rps)mmémoration basée sur des déroulements qui se manifestent comme des "actes" dans le corps, et qui remplacent les élaborations psychiques. Dans cette perspective psychanalytique, la répétition se manifeste comme une fixation à une jouissance "au-delà" et comme une régression en tant que type de mémoire qui évite la rencontre avec le nouveau et renvoie à des traces de mémoire laissées sur le corps. À cette fin, le cauchemar vécu et raconté par l'activiste Eve Ensler dans son livre Dans le corps du monde: une mémoire (2014), sera utilisé comme référence. Ensler y parle du rapport profondément intime et douloureux qu'elle entretient avec son corps et de la façon dont elle a évolué au cours de sa vie, après avoir vécu avec des femmes victimes des violences sexuelles.

El trauma, como forma de c(uerp)onmemoración, será abordado, en este trabajo, desde la perspectiva psicoanalítica, a partir de los desdoblamientos que se manifiestan en "actos" en el cuerpo que ocupan el lugar de la elaboración psíquica. Una perspectiva en la que la repetición se presenta bajo la modalidad de fijación a un goce "más allá" y de regresión como una especie de memoria que evita el encuentro con lo nuevo y vuelve a las huellas de la memoria dejados en el cuerpo. Para ello, se tomará como referencia la pesadilla vivida y narrada por la activista Eve Ensler, en el relato testimonial de su libro De Pronto, Mi Cuerpo: Una Memoria (2015). Ensler habla de la relación profundamente íntima y dolorosa que mantiene con su cuerpo y de cómo ésta ha cambiado a lo largo de su vida, tras convivir con mujeres que habían experimentado la violencia y el sufrimiento de la violación de sus cuerpos.

Manifestaciones clínicas, diagnóstico y tratamiento del golpe de calor / Clinical Manifestations, Diagnosis and Management of Heat Stroke

Introducción: El golpe de calor es una enfermedad que fue descrita hace más de 2000 años, sin embargo, los cambios climáticos que se han presentado en las últimas décadas han permitido que su prevalencia esté en aumento. Se considera una entidad compleja en la cual existe un compromiso importante de la termorregulación corporal y, en consecuencia, del resto de sistemas. Objetivos: Orientar al abordaje adecuado y óptimo de conceptos clínicos, epidemiológicos, factores el riesgo, presentación clínica y repercusión sobre los diferentes sistemas. Métodos: Se realizó una revisión de la literatura científica de personas con golpe de calor, en quienes se evaluaron sus factores asociados, métodos diagnósticos y manejos terapéuticos. Se realizó una búsqueda de la literatura en las siguientes bases de datos: Pubmed/Medline, Science Direct, Scopus, DOAJ, Embase, Cochrane, Direme, Redalyc y SciELO. Conclusiones: El golpe de calor es una urgencia médica que implica un manejo rápido y óptimo dado su morbilidad y mortalidad, lo cual puede minimizarse si se cumplen los objetivos de tratamiento. El enfriamiento por inmersión en agua helada, por convección o evaporación son las medias más usadas. Evitar la falla multiorgánica es el segundo objetivo terapéutico(AU)

Introduction: Heat stroke is a disease described more than 2000 years ago; however, the climatic changes that have occurred in recent decades have allowed an increase in its prevalence. It is considered a complex entity in which there is an important compromise of body thermoregulation and, consequently, of the rest of the systems. Objectives: To define important concepts concerning heat stroke, risk factors, clinical presentation and repercussions on the different systems, as well as to guide an appropriate and optimal management. Methods: A review of the scientific literature about people with heat stroke was carried out to assess its associated factors, diagnostic methods and therapeutic management. A literature search was performed in the following databases: Pubmed/Medline, Science Direct, Scopus, DOAJ, Embase, Cochrane, Bireme, Redalyc, and SciELO. Conclusions: Heat stroke is a medical emergency that requires rapid and optimal management given its morbidity and mortality, which can be minimized if management goals are met. Cooling by immersion into ice water, convection or evaporation are the most commonly used measures. Avoidance of multiorgan failure is the second therapeutic objective(AU)