Pharmaceutical care for rare ADR in a patient with ALK-positive non-small cell lung cancer induced by alectinib / 中国药房

OBJECTIVE To provide reference for safe drug use in patients with anaplastic lymphoma kinase （ALK）-positive non-small cell lung cancer （NSCLC）. METHODS Clinical pharmacists participated in the diagnosis and treatment of a patient with ALK-positive NSCLC who developed bilateral pleural effusion and hemolytic anemia after taking alectinib； regarding symptoms such as pleural effusion and hemolytic anemia in the patient， clinical pharmacists investigated the patient’s history of medication and disease， as well as potential drug interaction； to consider the correlation between the patient’s use of alectinib and the duration of pleural effusion and hemolytic anemia， clinical pharmacists suggested that clinical doctors discontinued alectinib and used reduced dose treatment after the pleural effusion improved， but the patient suffered from bilateral pleural effusion and hemolytic anemia again； after evaluating the correlation between alectinib and bilateral pleural effusion and hemolytic anemia using the Naranjo’s assessment scale， clinical pharmacists recommend permanent discontinuation of alectinib and jointly recommend replacement with ensartinib with clinical physicians. RESULTS Physicians adopted the suggestions of clinical pharmacists. The pleural effusion subsequently regressed and hemolytic anemia improved after replacing the drug. The correlation between alectinib and bilateral pleural effusion and hemolytic anemia was confirmed. CONCLUSIONS Clinical pharmacists participate in pharmaceutical monitoring of ALK-positive NSCLC patients， assist clinical doctors in developing personalized medication recommendations， and ensure the safety of patient medication.

Bibliometric and visual analysis of Chinese scarlet fever literature / 公共卫生与预防医学

Objective To analyze the research status and trend of scarlet fever literature in China, and to provide reference for subsequent research. Methods Three major Chinese databases, CNKI, Wanfang, and VIP, as well as Web of Science English database, were used to search for literature related to scarlet fever from 2000 to 2023. Citespace6.2.R2 software was used to statistically analyze the number of publications, authors, institutions and journals, co-cited literature, keyword clustering, and other literature characteristics of the literature. Results From 2000 to 2023, a total of 1 011 Chinese literature were included in the three major Chinese databases. Since 2011, the number of publications had gradually increased, but in recent years, the number of publications had decreased. The organization with the most publications was the Shenyang Center for Disease Control and Prevention. The cluster analysis of key words mainly formed 9 cluster tags, and the high-frequency keywords mainly included epidemic characteristics, epidemiology, incidence rate, etc. A total of 84 English literature were included in the WOS database, with an overall upward trend in publication volume. The institution with the most publications was the China Center for Disease Control and Prevention, and the most frequently cited journal was “LANCET INFECT DIS”.《Resurgence of scarlet fever in China: a 13-year population-based surveillance study》 was the most cited journal. After keyword cluster analysis, 9 cluster labels were mainly formed, and the keywords were mainly outbreak，Hong Kong, and Group A streptococcus. Conclusion Compared with the English literature, which mainly focuses on spatiotemporal aggregation, etiology and strain resistance, Chinese literature focuses more on epidemic surveillance, clinical features and quality nursing.

Síndrome hemolítico urémico secundario a Streptococcus pneumoniae. Reporte de un caso clínico

El síndrome hemolítico urémico secundario a Streptococcus pneumoniae (SHU-Sp) es una complicación poco frecuente de las enfermedades invasoras por S. pneumoniae. Presenta una alta morbimortalidad, con requerimiento de transfusiones de glóbulos rojos y plaquetas, terapia de sustitución de la función renal de inicio precoz y más prolongada, así como mayores complicaciones a largo plazo, comparado con las formas secundarias a infección entérica por Escherichia coli productora de toxina Shiga. Presentamos el caso clínico de una preescolar de dos años, previamente sana, vacunada con tres dosis de PCV13, que desarrolló una insuficiencia renal aguda, anemia hemolítica y plaquetopenia, en el contexto de una neumonía con empiema y bacteriemia por S. pneumoniae.

Streptococcus pneumoniae associated hemolytic uremic syndrome (Sp-HUS) is an uncommon complication of invasive pneumococcal infections. Patients with Sp-HUS have a higher mortality and long term morbidity than those due to HUS from Shiga toxin-producing Escherichia coli infections (STEC-HUS). They often require more red blood cells and platelet transfusions, and early initiation of renal substitution therapy, presenting a higher rate of arterial hypertension and chronic renal disease in the long term, compared to STEC-HUS. We report a healthy 2 year-old infant, vaccinated with three doses PCV13, that developed acute renal failure, hemolytic anemia and thrombocytopenia in the course of a complicated pneumococcal pneumonia with empyema and bacteremia.

Púrpura trombótica trombocitopénica en pediatría. Reporte de un caso / Thrombotic thrombocytopenic purpura in pediatrics. A case report

La púrpura trombótica trombocitopénica es una entidad poco frecuente en pediatría, pero de alta mortalidad sin tratamiento adecuado y oportuno. Se caracteriza por presentar anemia hemolítica microangiopática asociada a signos y síntomas neurológicos, cardíacos, abdominales y menos frecuentemente renales; puede estar acompañada de fiebre. En niños, el diagnóstico se basa en los hallazgos clínicos y de laboratorio. La actividad de ADAMTS13 <10 % apoya, pero no confirma el diagnóstico y, dada la gravedad de la patología, el resultado no debe retrasar el inicio del tratamiento. Se presenta una paciente de 15 años, previamente sana, con signos neurológicos asociados a anemia hemolítica y trombocitopenia. Durante su internación, se arribó al diagnóstico de púrpura trombótica trombocitopénica adquirida.

Thrombotic thrombocytopenic purpura is a rare disease in pediatrics, but it has a high mortality if not managed in an adequate and timely manner. It is characterized by microangiopathic hemolytic anemia associated with neurological, cardiac, abdominal, and less frequently, renal signs and symptoms; it may be accompanied by fever. In children, diagnosis is based on clinical and laboratory findings. ADAMTS13 activity < 10% supports the diagnosis but does not confirm it and, given its severity, the result should not delay treatment initiation. Here we describe the case of a previously healthy 15-year-old female patient with neurological signs associated with hemolytic anemia and thrombocytopenia. During hospitalization, she was diagnosed with acquired thrombotic thrombocytopenic purpura.

Características del síndrome urémico hemolítico en pacientes de un hospital pediátrico de Perú, 2010-2020 / Characteristics of hemolytic uremic syndrome in patients from a pediatric hospital in Peru, 2010-2020

RESUMEN El propósito del presente estudio fue describir las características clínicas, epidemiológicas, laboratoriales, tratamiento y seguimiento de pacientes con síndrome urémico hemolítico (SUH). Se revisaron las historias clínicas de los pacientes con SUH hospitalizados en el Instituto Nacional de Salud del Niño-Breña (INSN-B) de Lima, Perú. Se incluyeron a 83 pacientes. La mediana de edad fue de 22 meses. El 71,1% (n=59) registró uso previo de antibióticos. El 86,8% (n=72) tuvieron oligoanuria y el 74,6% (n=62) diarrea. Cinco cultivos fueron positivos (dos Escherichia coli enterohemorrágica). Cuarenta y nueve (59%) requirieron terapia de reemplazo renal. Ningún paciente falleció durante la hospitalización. Al año del seguimiento, siete pacientes presentaron nefropatía pos-SUH. En conclusión, en el INSN-B, la mediana de edad fue similar que años anteriores y hubo una mayor frecuencia de oligoanuria y terapia de reemplazo renal en comparación con reportes previos.

ABSTRACT This study aimed to describe the clinical-epidemiological, laboratory, treatment, and follow-up characteristics of patients with hemolytic uremic syndrome (HUS). The medical records of patients with HUS hospitalized at the Instituto Nacional de Salud del Niño-Breña (INSN-B) (Lima, Peru) were reviewed. We evaluated 83 patients. The median age was 22 months (interquartile range: 14 to 30 months). Of the sample, 71.1% (59) registered previous use of antibiotics. Seventy-two (86.8%) had oligoanuria and 62 (74.6%) had diarrhea. Five cultures were positive (two enterohaemorrhagic Escherichia coli). Forty-nine (59%) required renal replacement therapy. No patient died during hospitalization. At one year of follow-up, seven patients developed post-HUS nephropathy. In conclusion, in INSN-B, the median age was like previous years and there was a higher frequency of oligoanuria, and renal replacement therapy compared to previous reports.

Frecuencia de hospitalizaciones por síndrome urémico hemolítico en niños de 0 a 14 años en el Perú, periodo 2015 a 2022

Introducción. Existen limitados reportes epidemiológicos del síndrome urémico hemolítico (SUH) en Latinoamérica. Objetivo. Describir la frecuencia y características de las hospitalizaciones por SUH en niños de 0 a 14 años. Métodos. Se realizó un estudio descriptivo de análisis secundario con datos de hospitalizaciones por SUH de instituciones de salud de Perú en el periodo 2015-2022. Resultados. Se registraron 228 hospitalizaciones. El 52,2% fueron varones. El 88,6% fue menor de cinco años y el 11% menor de un año. Los departamentos con más hospitalizaciones fueron Lima y Arequipa con 133 y 46 casos. Las instituciones del Ministerio de Salud (MINSA) y del Seguro Social (EsSalud) reportaron el 42,5% y 27,6% de las hospitalizaciones. Del 2015 al 2022, la incidencia varió de 0,42 a 1,13 casos/100 000 niños menores de cinco años. Conclusiones. Las hospitalizaciones por SUH fueron más frecuentes en menores de cinco años y en las instituciones del MINSA.

Introduction. There are limited epidemiological reports of hemolytic uremic syndrome (HUS) in Latin America. Objective. To describe the frequency and characteristics of hospitalizations due to HUS in children aged 0 to 14 years. Methods. Descriptive study of secondary analysis was performed with data on hospitalizations due to HUS from healthcare institutions from Peru, 2015-2022. Results. Two hundred twenty-eight hospitalizations were registered, 52.2% were male, 88.6% were under five years old, and 11% were under one year old. The departments with more hospitalizations were Lima (133 cases) and Arequipa (46 cases). The institutions of the Ministry of Health (MINSA) and Social Security (EsSalud) reported 42.5% and 27.6% of hospitalizations. From 2015 to 2022, the incidence ranged from 0.42 to 1.13 cases/100,000 children under five years of age. Conclusions. Hospitalizations due to HUS were more frequent in children under five years of age and MINSA institutions.

The challenges of the pandemic and the vaccination against covid-19 in pediatric patients with kidney disease / Os desafios da pandemia e a vacinação covid-19 na população pediátrica com doenças renais

ABSTRACT The covid-19 vaccine confers direct protection and reduces transmission rates of the virus and new variants. Vaccines from Pfizer/BioNTech and CoronaVac have been cleared for children in Brazil. They are safe, effective, and immunogenic. There are no known complications associated with the use of steroids or vaccines in pediatric patients with covid-19 and nephrotic syndrome. With or without immunosuppression, these patients are not at increased risk of severe covid-19, and steroids are safe for them. A milder form of covid-19 occurs in patients with chronic kidney disease without the need for hospitalization. The vaccine response may be reduced and/or the duration of antibodies after vaccination may be shorter than in the general population. However, considering risk of exposure, vaccination against covid-19 is recommended. It is believed that patients with hemolytic-uremic syndrome are at higher risk of severe covid-19. Vaccination is recommended, although specific data on the safety and efficacy of the covid-19 vaccine are limited. There is agreement that the benefits of induced immunity outweigh the risks of immunization. Vaccination against covid-19 is recommended for children and adolescents needing kidney transplantation or who have undergone transplantation. These patients present decreased immune response after vaccination, but immunization is recommended because the benefits outweigh the risks of vaccination. Current recommendations in Brazil stipulate the use of the messenger RNA vaccine. This paper aims to provide pediatric nephrologists with the latest knowledge about vaccination against covid-19 for children with kidney disease.

Resumo A vacina covid-19 confere proteção direta, reduz as taxas de transmissão do vírus e de novas variantes. No Brasil, estão liberadas para a população pediátrica as vacinas Pfizer/BioNTech e a CoronaVac, ambas seguras, eficazes e imunogênicas. Pacientes pediátricos com síndrome nefrótica e covid-19 têm curso clínico regular sem complicações relacionadas ao uso de esteroides ou vacinas. Esses pacientes, com ou sem imunossupressão, não apresentam maior risco de covid-19 grave e o tratamento com esteroides é seguro. Os pacientes com doença renal crônica têm covid-19 mais leve, sem necessidade de hospitalização. A resposta vacinal pode ser reduzida e/ou a duração dos anticorpos pós-vacinação pode ser menor do que na população geral. Entretanto, a vacina covid-19 está recomendada, considerando o risco de exposição. Acredita-se que pacientes com síndrome hemolítico-urêmica teriam maior risco de covid-19 grave. A vacina é recomendada, embora dados específicos sobre segurança e eficácia da vacina covid-19 sejam limitados. Há concordância que os benefícios da imunidade induzida superam quaisquer riscos da imunização. A vacina covid-19 é recomendada para crianças e adolescentes candidatos ao transplante renal ou já transplantados. Esses pacientes têm resposta imunológica reduzida após a vacina, entretanto ela é recomendada porque os benefícios superam qualquer risco dessa vacinação. A recomendação atual no Brasil é a vacina de tecnologia RNA mensageiro. O objetivo deste documento é levar aos nefrologistas pediátricos os conhecimentos mais recentes sobre a vacinação contra contra-19 em crianças com doenças renais.

Genotipificación del gen RHD en ADN fetal libre en plasma de embarazadas RhD negativo / Genotyping of the RHD gene in free fetal DNA in plasma of RhD negative pregnant women

Objetivo: Determinar el grupo RhD fetal a través del estudio del gen RHD en ADN fetal que se encuentra libre en plasma de embarazadas RhD negativo. Método: Se analizó la presencia de los genes RHD, SRY y BGLO en ADNfl obtenido de plasma de 51 embarazadas RhD negativo no sensibilizadas, utilizando una qPCR. Los resultados del estudio genético del gen RHD se compararon con el estudio del grupo sanguíneo RhD realizado por método serológico en muestras de sangre de cordón, y los resultados del estudio del gen SRY fueron cotejados con el sexo fetal determinado por ecografía. Se calcularon la sensibilidad, la especificidad, los valores predictivos y la capacidad discriminativa del método estandarizado. Resultados: El gen RHD estaba presente en el 72,5% de las muestras y el gen SRY en el 55,5%, coincidiendo en un 100% con los resultados del grupo RhD detectado en sangre de cordón y con el sexo fetal confirmado por ecografía, respectivamente. Conclusiones: Fue posible deducir el grupo sanguíneo RhD del feto mediante el estudio del ADN fetal que se encuentra libre en el plasma de embarazadas con un método molecular no invasivo desarrollado y validado para este fin. Este test no invasivo puede ser utilizado para tomar la decisión de administrar inmunoglobulina anti-D solo a embarazadas RhD negativo que portan un feto RhD positivo.

Objective: To determine the fetal RhD group through the study of the RHD gene in fetal DNA found free in plasma of RhD negative pregnant women. Method: The presence of the RHD, SRY and BGLO genes in fetal DNA obtained from plasma of 51 non-sensitized RhD negative pregnant women was analyzed using qPCR. The results of the genetic study of the RHD gene were compared with the RhD blood group study performed by serological method in cord blood samples, and the results of the SRY gene study were compared with the fetal sex determined by ultrasound. Sensitivity, specificity, predictive values and discriminative capacity of the standardized method were calculated. Results: The RHD gene was present in 72.5% of the samples and the SRY gene in 55.5%, coinciding 100% with the results of the RhD group detected in cord blood, and with the fetal sex confirmed by ultrasound, respectively. Conclusions: It was possible to deduce the RhD blood group of the fetus through the study of fetal DNA found free in the plasma of pregnant women with a non-invasive molecular method developed and validated for this purpose. This non-invasive test can be used to make the decision to administer anti-D immunoglobulin only to RhD-negative pregnant women carrying an RhD-positive fetus.

Cognitive Function in Children With ?-Thalassemia Major

Objectives: To assess intelligence Quotient (IQ) in transfusion dependent ?-thalassemia major patients using Malin Intelligence Scale for Indian Children (MISIC) and to correlate verbal IQ (VIQ), performance IQ (PIQ) and full scale IQ (FSIQ) with serum ferritin levels and annual blood transfusion requirements. Methods: Cross-sectional study design, enrolling 100 patients of transfusion-dependent ?-thalassemia aged 6 years to 15 years 11 months. IQ was assessed using MISIC. Results: Mean (SD) full scale IQ was 95.96 (7.23). IQ was ‘average’ in most of the patients. There was a significant negative correlation of serum ferritin levels with object assembly (r=-0.215, P=0.034) component of PIQ; annual blood requirement with general comprehension component of VIQ (r=-0.275, P=0.006) and age at diagnosis with PIQ (r=-0.273, P=0.006). There was a significant linear correlation of PIQ (r=0.280, P=0.005) and FSIQ (r=0.274, P=0.006) with pre-transfusion hemoglobin. Conclusion: IQ correlates with age at diagnosis and average annual pre-transfusion hemoglobin. This highlights the importance of early diagnosis and maintenance of satisfactory hemoglobin levels

Hemolytic-uremic syndrome: 24 years' experience of a pediatric nephrology unit / Síndrome hemolítico-urêmica: 24 anos de experiência de uma unidade de nefrologia pediátrica

Abstract Introduction: A better understanding of hemolytic-uremic syndrome (HUS) pathophysiology significantly changed its treatment and prognosis. The aim of this study is to characterize the clinical features, severity, management, and outcomes of HUS patients. Materials and Methods: Retrospective study of HUS patients admitted to a Pediatric Nephrology Unit between 1996 and 2020. Demographic and clinical data regarding etiology, severity, treatment strategies, and patient outcome were collected. Results: Twenty-nine patients with HUS were admitted to our unit, but four were excluded. Median age at diagnosis was two years (2 months - 17 years). Clinical manifestations included diarrhea, vomiting, oliguria, hypertension, and fever. During the acute phase, 14 patients (56%) required renal replacement therapy. Infectious etiology was identified in seven patients (five Escherichia coli and two Streptococcus pneumoniae). Since 2015, 2/7 patients were diagnosed with complement pathway dysregulation HUS and there were no cases of infectious etiology detected. Six of these patients received eculizumab. The global median follow-up was 6.5 years [3 months-19.8 years]. One patient died, seven had chronic kidney disease, four of whom underwent kidney transplantation, one relapsed, and seven had no sequelae. Conclusion: These results reflect the lack of infectious outbreaks in Portugal and the improvement on etiological identification since genetic testing was introduced. The majority of patients developed sequels and mortality was similar to that of other countries. HUS patients should be managed in centers with intensive care and pediatric nephrology with capacity for diagnosis, etiological investigation, and adequate treatment. Long-term follow-up is essential.

Resumo Introdução: Um melhor entendimento da fisiopatologia da síndrome hemolítico-urêmica (SHU) mudou significativamente seu tratamento e prognóstico. Este estudo teve como objetivo caracterizar condições clínicas, gravidade, manejo e desfechos de pacientes com SHU. Materiais e Métodos: Estudo retrospectivo de pacientes com SHU admitidos numa Unidade de Nefrologia Pediátrica entre 1996-2020. Foram coletados dados demográficos e clínicos sobre etiologia, gravidade, estratégias de tratamento, desfechos de pacientes. Resultados: 29 pacientes com SHU foram admitidos em nossa unidade, mas quatro foram excluídos. A idade mediana ao diagnóstico foi dois anos (2 meses-17 anos). Manifestações clínicas incluíram diarreia, vômitos, oligúria, hipertensão e febre. Durante a fase aguda, 14 pacientes (56%) necessitaram de terapia renal substitutiva. Identificou-se a etiologia infecciosa em sete pacientes (cinco Escherichia coli; dois Streptococcus pneumoniae). Desde 2015, 2/7 pacientes foram diagnosticados com SHU por desregulação da via do complemento e não foram detectados casos de etiologia infecciosa. Seis desses pacientes receberam eculizumab. A mediana global de acompanhamento foi 6,5 anos [3 meses-19,8 anos]. Um paciente faleceu, sete apresentaram doença renal crônica, sendo quatro submetidos a transplante renal, uma recidiva e sete sem sequelas. Conclusão: Estes resultados refletem a ausência de surtos infecciosos em Portugal e a melhoria na identificação etiológica desde que os testes genéticos foram introduzidos. A maioria dos pacientes desenvolveu sequelas e a mortalidade foi semelhante à de outros países. Pacientes com SHU devem ser manejados em centros com cuidados intensivos e nefrologia pediátrica com capacidade para diagnóstico, investigação etiológica e tratamento adequado. O acompanhamento alongo prazo é essencial.

Cold antibody autoimmune hemolytic anemia following varicella infection

Introduction: Autoimmune hemolytic anemia (AIHA) is a rare complication of chicken pox. In adults, such AIHA is due to warm antibodies. We report a case of cold antibody AIHA following chicken pox in a young female. Case Report: A 24-year-old female presented with clinical and laboratory features consistent with hemolytic anemia 5 days after the onset of chicken pox. Her hemoglobin levels dropped rapidly during the course of admission from 7.9 to 3.8 g/dL with evidence of ongoing haemolysis in the form of rising total and indirect bilirubin. Peripheral smear revealed red cell agglutinates and erythrophagocytosis. Direct Coomb's test (DCT) was positive for C3d suggesting a cold antibody AIHA. Since test for Donath Landsteiner antibody was negative, and all other tests for common causes of hemolytic anemia were noncontributory, it was presumed to be due to chicken pox. The fulminant course necessitated a short course of oral steroids to which she responded with rise in hemoglobin and no further hemolysis. Two weeks later, her peripheral smear was normal and DCT negative. Conclusion: In patients presenting with acute onset anemia following chicken pox, possibility of cold antibody AIHA must be considered and appropriate testing pursued. Despite lack of empiric evidence, short course of steroids may be beneficial if drop in hemoglobin is rapid with evidence of fulminant hemolysis, showing no abatement after first week.

Síndrome urémico hemolítico del adulto / Adult hemolytic uremic syndrome

El síndrome urémico hemolítico (SUH), descripto en 1955, se caracteriza por la tríada de anemia hemolítica no inmunomediada, trombocitopenia y lesión renal aguda. En su patogenia interviene la toxina Shiga, producida con mayor frecuencia por E. coli O157:H. Puede manifestarse a cualquier edad, aunque es infrecuente en adultos, y se desarrolla en forma esporádica o en brote. Se presenta con un cuadro de dolor abdominal, diarrea, fiebre y vómitos. Puede afectar el sistema nervioso central, pulmones, páncreas y corazón. En adultos, el síndrome evoluciona tras un período de incubación de 1 semana posterior a la diarrea y tiene alta morbimortalidad, a diferencia de los casos pediátricos. Presentamos el caso de una paciente adulta, que cursó internación por síndrome urémico hemolítico. (AU)

Hemolytic uremic syndrome (HUS), described in 1955, is characterized by the triad of non-immune mediated hemolytic anemia, thrombocytopenia, and acute kidney injury. Shiga toxin, produced most frequently by E coli O157:H, is involved in its pathogenesis. Hus can manifest at any age, although it is rare in adults and develops sporadically or in outbreaks. HUS presents with a picture of abdominal pain, diarrhea, fever and vomiting. It can affect the central nervous system, lungs, pancreas, and heart.In adults, the syndrome evolves after an incubation period of 1 week after diarrhea, with high morbidity and mortality, unlike pediatric cases.We present the case of an adult patient who was hospitalized for hemolytic uremic syndrome. (AU)

Use of prophylactic phototherapy for RhD neonatal disease in a referral service

Abstract Objective: This study aimed to describe the effect of prophylactic phototherapy in the treatment of infants with Neonatal Hemolytic Disease. Method: A retrospective cohort study was carried out with 199 RhD-positive infants, born to RhD-negative mothers, alloimmunized for RhD antigen, between January 2009 and December 2018. Results: The incidence of exchange transfusions in the study population was 9.5%, with a mean maximum bilirubin value of 11.3 mg % (± 4.3mg %). Bilirubin's maximum peak was achieved with a mean of 119.2 life hours (± 70.6h). Conclusions: The low incidence of exchange transfusion, the extended maximum bilirubin peak for later ages, and the low mean of the maximum bilirubin values may indicate a positive effect of prophylactic phototherapy in the treatment of this disease. Further studies must be carried out to confirm these findings.

Radiocirugía estereotáxica por gamma knife en un paciente con cavernoma cerebral y síndrome de Evans

El cavernoma cerebral es una malformación vascular de diagnóstico infrecuente. Se define como una malformación a nivel de la vasculatura microcerebral que, dependiendo a la ubicación y si existe la posibilidad de ruptura, conlleva a una emergencia que puede terminar en la muerte del paciente. En esta oportunidad se reporta el caso de un paciente con cavernoma cerebral asociado al síndrome de Evans. Se decide manejo quirúrgico de la lesión por aumento de intensidad de cefalea e intolerancia oral. Dada la coexistencia del Síndrome de Evans y la alta tasa de morbimortalidad es que se decide manejo quirúrgico mediante radiocirugía estereotáxica con gamma knife. El uso de dosis de margen bajo para tratamiento con gamma knife para uso en cavernomas cerebrales produce un manejo controlado para sintomatología de convulsiones y mejor expectativa de calidad de vida.

Cerebral cavernoma is an infrequently diagnosed vascular malformation. It is defined as a malformation at the level of the microcerebral vasculature that, depending on the location and if there is a possibility of rupture, leads to an emergency that can end in the death of the patient. On this occasion, we report a case of a patient with cerebral cavernoma associated with Evans syndrome. Surgical management of the lesion was decided due to increased intensity of headache and oral intolerance. Given the coexistence of Evans Syndrome and the high rate of morbidity and mortality, surgical management was decided by stereotaxic radiosurgery with a gamma knife. The use of low-margin doses for treatment with gamma knife for use in brain cavernomas produces controlled management for seizure symptoms and better quality of life expectancy.

A rare case of complicated malaria presenting as warm autoimmune hemolytic anemia

Autoimmune hemolytic anemia (AIHA) has been rarely reported worldwide or from India as the underlying cause of anemia in malaria. We hereby present a case of complicated Plasmodium falciparum malaria with concomitant warm AIHA in a 31-year-old male. Direct Antiglobulin Test (DAT) was positive and elution studies showed pan-agglutination reaction. Clinico-hematological and serological follow-up of the patient was done post artesunate treatment until day 9. We suggest that it is important to establish the immune basis of anemia in malaria patients for guiding the treatment plan for the clinicians and providing packed red blood cell transfusion if required.

Clinical characteristics of 37 antiphospholipid syndrome patients complicated by autoimmune hemolytic anemia / 中华内科杂志

Objective:We sought to investigate the clinical characteristics and risk factors of antiphospholipid syndrome (APS) complicated by autoimmune hemolytic anemia (AIHA).Methods:Retrospective anaysis.Three hundred fifteen consecutive patients with APS were enrolled at the Department of Rheumatology of Peking Union Medical College Hospital between May 2017 to May 2021, and their clinical manifestations[including initial symptoms, time interval between APS onset and diagnosis, systemic lupus erythematosus(SLE), thrombotic events, obstetric morbidity, and extra-criteria manifestations] and laboratory test results[including blood routine, antiphospholipid antibodies(aPLs), blood lipid profile, homocysteine, anti-nuclear antibody profile, immunoglobulin levels, and complement levels] were collected. Then, univariate and multivariate logistic regression analyses were performed. Clinical features and risk factors were analyzed using univariable and multivariable logistic regression analysis.Results:Among 315 APS patients, 37 cases (11.7%) were complicated by AIHA, and AIHA was the first manifestation or co-occurrence. The median time interval between APS onset and diagnosis was 12 months. The proportion of SLE in APS patients combined with AIHA was higher than that in APS patients without AIHA[62.2%(23/37) vs. 19.4%(54/278), P<0.001]. There was no significant difference in the proportions of thrombosis and pregnancy morbidity between the two groups. In terms of extra-criteria manifestations, APS patients with AIHA had a significantly ( P<0.05) greater risk of thrombocytopenia ( OR=6.19, 95% CI 2.81-13.65) and higher proportions of hypocomplementemia, a positive lupus anticoagulant (LA) result, double aPLs positivity[i.e., any two of the following antibodies were positive: LA, anticardilolipin antibody(aCL), and anti-β2 glycoprotein Ⅰ(β2GPⅠ)], and triple aPLs positivity (i.e., LA, aCL, and anti-β2GPⅠ antibodies were all positive). Multivariate logistic regression analysis showed that SLE ( OR=3.46,95% CI 1.60-7.48), thrombocytopenia ( OR=2.56,95% CI 1.15-5.67), and hypocomplementemia ( OR=4.29,95% CI 2.03-9.04) were independent risk factors for the complication of APS. In the primary APS subgroup, multivariate logistic regression analysis showed that livedo reticularis ( OR=10.51,95%CI 1.06-103.78), thrombocytopenia ( OR=3.77, 95% CI 1.23-11.57), and hypocomplementemia ( OR=5.92,95% CI 1.95-17.95) were independent risk factors for the complication of APS. Conclusions:AIHA is not rare in APS patients; moreover, it occurs more frequently in APS secondary to SLE and is more likely to present with a variety of extra-criteria manifestations. Patients with AIHA should be promptly tested for antiphospholipid antibody profiles and alerted to the possibility of thrombotic events.

Clinical analysis of severe hyperbilirubinemia caused by hemolytic disease of the newborn and G6PD deficiency / 中国新生儿科杂志

Objective:To study the clinical characteristics and differences of severe hyperbilirubinemia caused by hemolytic disease of the newborn (HDN) and glucose-6-phosphate dehydrogenase (G6PD) deficiency.Methods:From January 2014 to December 2021, newborns (gestational age ≥ 35 weeks and postnatal age ≤ 28 d) admitted to the Department of Neonatology of Hunan Children's Hospital with severe hyperbilirubinemia caused by HDN or G6PD deficiency were retrospectively analyzed. According to the etiology of hyperbilirubinemia, they were assigned into HDN group and G6PD deficiency group. The general conditions, clinical manifestations, laboratory results, treatment and prognosis of the two groups were compared using SPSS 26.0 software.Results:A total of 532 cases were in the HDN group and 413 cases in the G6PD deficiency group. The HDN group reached peak hyperbilirubinemia earlier than the G6PD deficiency group [3(2,5) d vs. 6(4,8)d, P<0.05]. The HDN group had lower peak value of total serum bilirubin [379.5(345.6,426.7) μmol/L vs. 486.4 (413.5,577.4) μmol/L] and lower incidence of anemia [37.4% (199/532) vs. 55.0% (227/413)]than the G6PD deficiency group.The incidence of anemia with elevated reticulocyte percent(Ret%) in the HDN group was higher than the G6PD deficiency group[66.3%(132/199) vs. 5.7%(13/227), P<0.05]. Compared with the G6PD deficiency group, the incidences of exchange transfusion and repeated (≥2 times) exchange transfusion, acute bilirubin encephalopathy(ABE) and the mortality rate after withdrawal of treatment in the HDN group were significantly lower ( P<0.05). Conclusions:Neonatal severe hyperbilirubinemia caused by HDN has early onset. G6PD deficiency caused hyperbilirubinemia has higher incidences of anemia, more severe jaundice and ABE, without increased Ret%.

Clinical characteristics and prognosis of anti-factor H antibody associated-atypical hemolytic uremic syndrome in children / 中华实用儿科临床杂志

Objective:To summarize the clinical data of anti-factor H antibody-associated atypical hemolytic uremic syndrome (aHUS) in children, and analyze the risk factors for disease recurrence and poor prognosis.Methods:A prospective cohort study was conducted on 52 children with anti-factor H antibody-associated aHUS in Beijing Children′s Hospital, Capital Medical University from November 2011 to November 2021.Patient information about the genetic background, clinical and renal pathological characteristics, treatment, and prognosis were collected.Then, the disease recurrence and prognosis were analyzed using the survival curve and Cox regression model. Results:In 52 children, there were 33 males and 19 females.The average age of onset for aHUS was 2.4-12.8 years, and 92.3%(48/52) of the children developed symptoms at the age of 4-12 years.The copy numbers of complement factor-H-related 1 (CFHR1) and complement factor-H-related 3 (CFHR3) genes were calculated in 42 children.Among the 42 cases, 18 cases (42.9%) had CFHR1 homozygous deletion, and 83.3% (15/18) of them also had CFHR3 homozygous deletion.All the patients were given plasma therapy.Besides, 76.9% (40/52) of the children were treated with immunosuppressive therapy (steroid and/or immunosuppressant) at the first onset of the disease.About 86.5%(45/52 cases) of the patients received immunosuppressive therapy in the course of disease, and the immunosuppressive treatment lasted for 6-20 months in total.The median follow-up time was 58 (28, 91) months.Among 52 patients, only 12 patients (23.1%) suffered disease recurrence.The relapse-free survival rate in children with CFHR1 homozygous deletion was significantly lower than that in children with non-homozygous deletion ( χ2=4.700, P=0.030). The relapse-free survival rate in children with CFHR1 and CFHR3 homozygous deletions was also significantly lower than that in other children ( χ2=4.181, P=0.041). At the end of the follow-up, 73.1%(38/52) of the children had normal renal function and no persistent proteinuria or hypertension.23.1%(12/52 cases) of the children had persistent proteinuria and/or hypertension.One child had Stage 3-4 chronic kidney disease, and 1 child was dialysis dependent. Conclusions:Anti-factor H antibody-associated aHUS is prone to occur in children aged between 4-12 years old, who respond well to plasma therapy and immunosuppressive therapy.Children with anti-factor H antibody-associated aHUS and CFHR1 and CFHR3 homozygous deletions have a high recurrence rate.Treatment with immunosuppressive therapy and assessment of the copy number of CFHR1 and CFHR3 genes in the early stage of the disease are important for preventing disease recurrence and improving prognosis.

Research progress on anti-factor H antibody associated atypical hemolytic uremic syndrome / 中华实用儿科临床杂志

Atypical hemolytic uremic syndrome (aHUS) is a rare acute and critical disease in childhood, which is easy to lead to acute kidney injury, and has a high mortality rate and chronic kidney disease incidence if not diagnosed and treated in time.According to the etiology, aHUS can be classified into hereditary and acquired.Anti-factor H antibody associated aHUS is acquired and mainly occurs in children aged 5 to 15 years.Anti-factor H antibody associated aHUS is strongly associated with homozygous deletion of the complement H related protein 1/3 (CFRH1/3) gene.In recent years, there have been significant advances in the etiology, genetics, and immunology of aHUS, especially the treatment of Eculizumab, which has greatly improved the prognosis of the disease.However, at present, there are still problems that need to be solved in the pathogenesis, diagnosis, treatment and prognosis of antibody-related aHUS, and this article will discuss the above content and put forward corresponding prospects to provide reference for clinical and scientific research.

The advances of streptococcus pneumoniae-associated hemolytic uremic syndrome / 国际儿科学杂志

Streptococcus pneumoniae-associated hemolytic uremic syndrome(SP-HUS) is a thrombotic microvascular disease caused by streptococcus pneumoniae infection, which is one of the causes renal failure in children.Clinical manifestations include thrombocytopenia, hemolytic anemia and acute renal failure.The neuraminidase and surface protein C substance of Streptococcus pneumoniae, immune factors and complement play important roles in the pathogenesis of SP-HUS.The complement inhibitors provides a new solution for the treatment of SP-HUS.However, few SP-HUS cases have been reported in China.This paper reviews the pathogenesis, clinical manifestations and treatment of SP-HUS to help clinicians better understand the disease, early recognition and intervention treatment.