Clinico-Hematological Profile and Management of Children With Non-Transfusion Dependent Thalassemia (NTDT) at a Pediatric Center in Northern India

Objective: To study the clinico-hematological profile, complications, and management of children with non-transfusion dependent thalassemia (NTDT) in northern India. Method: We retrieved and analyzed the data of 69 children with NTDT diagnosed between January, 2006 to December, 2018, aged under 18 years from our unit’s records. Result: The participants mean (SD) age was 4.4 (3.1) years, and they presented with anemia (29%), jaundice (13%), hemolytic facies (13%), splenomegaly (87%), thromboembolism (2.9%) and pathological short stature (28.5%). The most common cause of NTDT was ?-thalassemia (45%), followed by either compound-heterozygous or homozygous for E?-thalassemia mutation. The most frequent single genotype observed was compound heterozygous for IVS1-5 (G>C) and codon 26 (G>A). The mean (SD) follow-up duration was 3.5 (2.4) years. On follow-up, 27 children (%) remained transfusion free, and 30 (%) needed occasional transfusions. 63% of patients initially presenting with pathological short stature showed improvement in growth. Amongst children older than 10 years (n=20), subclinical hypothyroidism was detected in 6 children and impaired glucose tolerance test in 1 child. Conclusion: Eß-thalassemia was the commonest cause of NTDT in this population.

Trasplante cardíaco por hemocromatosis. Caso pediátrico / Cardiac transplantation due to hemochromatosis. A pediatric case report

La hemocromatosis es una enfermedad caracterizada por el excesivo depósito de hierro en múltiples órganos, entre ellos hígado, páncreas, piel y corazón. La infiltración de este último es un importante factor en morbilidad y mortalidad. Presentamos un caso de un paciente pediátrico con insuficiencia cardíaca terminal que ameritó trasplante cardíaco, que resultó sin complicaciones. Posterior a la cirugía, mostró mejoría bioquímica y clínica, lo que influyó positivamente en su calidad de vida y prolongó su supervivencia.

Hemochromatosis is a disease characterized by excess iron stores in multiple organs, including the liver, pancreas, skin, and heart. The infiltration of the heart is an important factor in morbidity and mortality. Here we describe the case of a pediatric patient with end-stage heart failure who required a heart transplantation, with no complications. After the surgery, she showed biochemical and clinical improvement, with a positive impact on her quality of life and a prolonged survival.

Iron profile of pregnant sickle cell anemia patients in Odisha, India

ABSTRACT Introduction: During pregnancy, the iron requirement increases to meet the optimal growth of the fetus and prevent iron deficiency anemia-related complications in the mother. However, in sickle cell disease (SCD) primarily due to repeated blood transfusions and hemolysis-induced recycling of iron, its supplementation during pregnancy remains questionable and may be harmful. Methods: Twenty-five pregnant women with homozygous SCD and 25 pregnant women with normal hemoglobin variants were included as cases and control, respectively. Pregnancy and sickle cell anemia (SCA) were diagnosed using standard protocols. The serum iron, serum ferritin, total iron-binding capacity (TIBC), percentage transferrin saturation and C-reactive protein were estimated, as per the manufacturer's protocol. The complete blood count was performed. The unpaired 't-test' was performed using the SPSS v23.0 and the principal component analysis (PCA) was performed using the online software MetaboAnalyst for statistical analysis. Main Results: The studied cases had significantly lower mean hemoglobin and higher mean corpuscular volume (MCV), compared to controls. The mean serum-iron, serum-ferritin and percentage transferrin-saturation in the cases were significantly higher than that of the controls, while the TIBC was lower in the cases (p < 0.0001). The mean level of serum iron, ferritin, percentage transferrin saturation and TIBC were 309.44 ± 122.40mcg/dl, 860.36 ± 624.64ng/ml, 42.6 ± 17.30% and 241.32 ± 96.30 mcg/dl, respectively, in the cases and 95.36 ± 41.90mcg/dl, 122.28 ± 49.70ng/ml, 15.83 ± 3.10% and 492.6 ± 149.40mcg/dl in the controls, respectively. Higher MCV, mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) with lower hemoglobin (Hb) were noted in the cases. The PCA revealed that the cases were more heterogeneous in terms of the variability of the iron status and hematological indices than the controls. Conclusion: The current study shows iron sufficiency in most cases of pregnancy with SCA and suggests that evaluation of iron status must be made before initiating iron prophylaxis in pregnant women with SCA, especially in regions having a high prevalence of sickle cell hemoglobinopathy.

Fluid overload: clinical outcomes in pediatric intensive care unit

Abstract Objective The aim of this study was to analyze the effects of fluid overload related to mechanical ventilation, renal replacement therapy, and evolution to discharge or death in critically ill children. Methods A retrospective study in a Pediatric Intensive Care Unit for two years. Patients who required invasive ventilatory support and vasopressor and/or inotropic medications were considered critically ill. Results 70 patients were included. The mean age was 6.8 ± 6 years. There was a tolerable increase in fluid overload during hospitalization, with a median of 2.45% on the first day, 5.10% on the third day, and 8.39% on the tenth day. The median fluid overload on the third day among those patients in pressure support ventilation mode was 4.80% while the median of those who remained on controlled ventilation was 8.45% (p = 0.039). Statistical significance was observed in the correlations between fluid overload measurements on the first, third, and tenth days of hospitalization and the beginning of renal replacement therapy (p = 0.049) and between renal replacement therapy and death (p = 0.01). The median fluid overload was 7.50% in patients who died versus 4.90% in those who did not die on the third day of hospitalization (p = 0.064). There was no statistically significant association between death and the variables sex or age. Conclusions The fluid overload on the third day of hospitalization proved to be a determinant for the clinical outcomes of weaning from mechanical ventilation, initiation of renal replacement therapy, discharge from the intensive care unit, or death among these children.

Sobrecarga dos cuidadores familiares de adoecidos por câncer em cuidados paliativos* / Burden of family caregivers of cancer patients in palliative care* / Sobrecarga de los cuidadores familiares de pacientes con cáncer en cuidados paliativos*

RESUMO Objetivo: analisar a correlação entre sobrecarga dos cuidadores familiares de adoecidos por câncer em Cuidados Paliativos e as variáveis sexo, idade, problemas de saúde e tempo de cuidado. Método: estudo descritivo correlacional com amostra não probabilística de 147 cuidadores familiares, na Clínica de Cuidados Paliativos Oncológicos, em 2021, na cidade de Belém do Pará - Brasil. Utilizou-se a Escala de Sobrecarga de Zarit para coleta de dados com análise estatística descritiva e inferencial. Resultados: 86 (58,5%) dos cuidadores eram do sexo feminino, 66 (44,9%) cuidadores se sentem "Muito sobrecarregados", 104 (70,7%) apresentaram sobrecarga Moderada a Severa. Não houve consistência para concluir as variáveis sexo, faixa etária, problemas de saúde ou tempo de cuidado uma relação estatisticamente significante (p>0,05). Conclusão: espera-se que os resultados contribuam para aumentar o conhecimento do tema, subsidiando a prática assistencial, e na formulação de políticas públicas para o atendimento das necessidades dos cuidadores de familiares adoecidos por câncer.

ABSTRACT Objective: To analyze the correlation between the burden of family caregivers of cancer patients in Palliative Care and the variables gender, age, health problems, and length of care. Method: Descriptive correlational study with a non-probabilistic sample of 147 family caregivers at the Oncological Palliative Care Clinic in 2021 in Belém do Pará - Brazil. The Zarit Overload Scale was used to collect data, with descriptive and inferential statistical analysis. Results: 86 (58.5%) of the caregivers were female, 66 (44.9%) caregivers felt "Very overloaded", and 104 (70.7%) had Moderate to Severe overload. There was no consistency in concluding that the variables gender, age group, health problems, or length of care had a statistically significant relationship (p>0.05). Conclusion: It is hoped that the results will contribute to increasing knowledge of the subject, supporting care practice, and formulating public policies to meet the needs of caregivers of family members who are ill with cancer.

RESUMEN Objetivo: Analizar la correlación entre la sobrecarga de los cuidadores familiares de pacientes oncológicos en cuidados paliativos y las variables sexo, edad, problemas de salud y tiempo de cuidado. Método: estudio descriptivo correlacional con una muestra no probabilística de 147 cuidadores familiares, en la Clínica de Cuidados Paliativos Oncológicos, en 2021, en la ciudad de Belém do Pará - Brasil. Para recoger los datos se utilizó la Escala de Sobrecarga de Zarit, con análisis estadísticos descriptivos e inferenciales. Resultados: 86 (58,5%) de los cuidadores eran mujeres, 66 (44,9%) cuidadores se sentían "Muy sobrecargados", 104 (70,7%) tenían una sobrecarga de Moderada a Severa. No hubo coherencia a la hora de concluir que las variables sexo, grupo de edad, problemas de salud o tiempo de atención tuvieran una relación estadísticamente significativa (p>0,05). Conclusión: Se espera que los resultados contribuyan a aumentar el conocimiento sobre el tema, apoyar la práctica asistencial y la formulación de políticas públicas para satisfacer las necesidades de los cuidadores de familiares enfermos de cáncer.

Cardiac iron overload evaluation in thalassaemic patients using T2* magnetic resonance imaging following chelation therapy: a multicentre cross-sectional study

Abstract Introduction Magnetic resonance imaging (MRI) T2* technique is used to assess iron overload in the heart, liver and pancreas of thalassaemic patients. Optimal iron chelation and expected tissue iron response rates remain under investigation. The objective of this study was to analyse serum ferritin and the iron concentration in the heart, liver and pancreas measured by MRI T2*/R2* during regular chelation therapy in a real-world cohort of patients with thalassemia. Methods We evaluated thalassaemic patients ≥ 7 years old undergoing chelation/transfusion therapy by MRI and assessed serum ferritin at baseline and follow-up from 2004-2011. Results We evaluated 136 patients, 92% major thalassaemic, with a median age of 18 years, and median baseline ferritin 2.033ng/ml (range: 59-14,123). Iron overload distribution was: liver (99%), pancreas (74%) and heart (36%). After a median of 1.2 years of follow-up, the iron overload in the myocardium reduced from 2,63 Fe mg/g to 2,05 (p 0.003). The optimal R2* pancreas cut-off was 148 Hertz, achieving 78% sensitivity and 73% specificity. However, when combining the R2* pancreas cut off ≤ 50 Hertz and a ferritin ≤ 1222 ng/ml, we could reach a negative predictive value (NPV) of 98% for cardiac siderosis. Only 28% were undergoing combined chelation at baseline assessment, which increased up to 50% on follow up evaluation. Conclusions Chelation therapy significantly reduced cardiac siderosis in thalassaemic patients. In patients with moderate/severe liver iron concentration undergoing chelation therapy, ferritin levels and myocardium iron improved earlier than the liver siderosis.

Volume assessment and management for pediatric patients with heart failure / 中国小儿急救医学

Fluid overload is frequently found in critically ill patients with pediatric heart failure.Volume management is one of the important therapeutic measures for pediatric patients with heart failure, the aim of which is to achieve the best individual volume homeostasis.Assessment of volume status is the premise and foundation of volume management.The comprehensive evaluation and effective management of volume status leave clinical doctors a great challenge.In order to provide guidance and evidence for clinicians, this review elucidated the methods for assessment and management of volume status for pediatric patients with heart failure.

Translation of the Chinese version of the Modified Atrial Fibrillation Information Overload Scale and the test of its reliability and validity / 中国实用护理杂志

Objective:To translate the English version of the Modified Atrial Fibrillation Information Overload Scale into Chinese,and to preliminarily test its reliability and validity.Methods:According to the Brislin translation model,the English version of the Modified Atrial Fibrillation Information Overload Scale was translated into Chinese, and then was back-translated and modified for cultural adaptation followed by the guidelines. From December 2021 to May 2022,200 patients with atrial fibrillation in the Affiliated Hospital of Qingdao University and Qingdao Municipal Hospital Affiliated to Qingdao University were included by a convenience sampling method for a questionnaire survey, in order to evaluate its reliability and validity.Results:The Chinese version of the Modified Information Atrial Fibrillation Overload Scale contained 8 items. The Cronbach α coefficient of the Chinese version of the Modified Atrial Fibrillation Information Overload Scale was 0.884. The test-retest reliability was 0.653. The split-half reliability was 0.794. The scale-content validity index was 0.98, and the item-content validity index ranged from 0.83 to 1.00. Confirmatory factor analysis showed that the two-factor model fitted well, χ2/ df was 3.958, root mean square error was 0.026, comparative fit index was 0.936, goodness of fit index was 0.918, normal of fit index was 0.917, Tucker-Lewis index was 0.900, root mean square error of approximation was 0.08. Conclusions:The Chinese version of the Modified Atrial Fibrillation Information Overload Scale has good reliability and validity. It provides a reliable research tool for the patients to measure information overload in China, and provides a basis for health education for medical staff.

Dynamic Response and Injury Prediction for Lumbar Vertebrae of Pilots with Spondylolysis under Persistent Overload / 医用生物力学

Objective Based on construction and verification of the lumbar finite element model, the simulation calculation and injury prediction on dynamic response of normal lumbar model and L5 unilateral and bilateral spondylolysis models of the pilot were carried out, so as to explore the influence of persistent flight overload on normal and spondylolysis lumbar vertebrae of the pilot. Methods The precise finite element model of lumbavertebrae was established using reverse engineering software and computer-aided engineering (CAE) technology based on CT images. The validity of the lumbar vertebrae model was verified by static and dynamic in vitro experiments. The biomechanical simulation analysis on normal and spondylolysis lumbar vertebrae of the pilotunder persistent overload was carried out, and the spinal injury was predicted and analyzed by dynamic response index (DRI) injury evaluation and prediction method. Results The maximum isthmus stress of L5 vertebra in unilateral and bilateral spondylolysis models were 105. 29 MPa and 126. 32 MPa, respectively, which were significantly higher than those in normal model. The L4-5 and L5-S1 intervertebral discs of the spondylolysis model were more prone to premature degenerative changes than those of normal model. Combined with DRI spinal injury prediction method, the probability of spinal injury in normal lumbar vertebrae, lumbar vertebrae with L5 unilateral and bilateral spondylolysis were 0. 001 4% , 2. 26% and 3. 21% , respectively, and the probability of spinal injury was significantly increased after the occurrence of spondylolysis. Conclusions The spondylolysis increases the load of lumbar isthmus under flight overload. The results provide more accurate data support for the formulation of training programs and the development of protective devices to ensure flight safety

Preclinical anti-apoptotic properties of salidroside for hypoxic-ischemic cerebral damage: a systematic review and meta-analysis / 数字中医药（英文）

@#【Objective】   As the main active ingredient of Tibetan medicine Hongjingtian (Rhodiolae Crenulatae Radix et Rhizoma), salidroside (Sal) has a good anti-apoptotic potential. Currently, there are some conflicting results on the anti-apoptotic mechanisms of Sal. Here we conducted a systematic review and meta-analysis to provide the preclinical evidence of its anti-apoptotic properties in preventing and treating hypoxic-ischemic cerebral damage(HICD). 【Methods】   The literature on the anti-apoptotic potential of Sal in the treatment of HICD from January 1, 1980 to November 9, 2021 was searched online using Chinese databases including Chinese National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database (VIP), and Wanfang Database, and English databases including PubMed and Web of Science. The quality of the included articles was evaluated by the Cochrane Collaboration network bias risk assessment criteria, and meta-analysis was performed using RevMan 5.3 software. 【Results】  A total of 40 articles were finally included. Among the 40 articles, 30 were about in vivo animal experiments and 17 about in vitro cell experiments, and 7 of them included both animal and cell experiments. After analysis, it was found that Sal had significant effects on disease-related indicators of HICD (P < 0.05), such as cerebral infarctsize and brain water content. As to in vivo studies, Sal mainly affects the expressions of apoptotic factors through antiinflammation, anti-oxidation, activation of complement pathway, and regulation of signal transduction and autophagy, thus exerting anti-apoptotic potential in treating HICD. While for in vitro studies, Sal plays the anti-apoptotic role in HICD models mainly through anti-oxidation, anti-inflammation, reduction of Ca2+ overload, regulation of mitochondrial function, signal transduction, and C3 complement. 【Conclusion】  Sal can take anti-apoptotic effects to prevent and treat HICD through mechanisms such as anti-inflammation, anti-oxidation, enhanced autophagy, complement and signal transduction, regulation of mitochondrial membrane potential, and reduction of Ca2 + overload.

Impacto e sobrecarga familiar em cuidadores de crianças e adolescentes com deficiência intelectual / Family mpact and burden on caregivers of children and adolescents with intellectual disabilities

A Deficiência Intelectual (DI) se caracteriza por déficits funcionais, intelectuais, funções adaptativas, ou seja, os padrões de desenvolvimento e socioculturais relacionados à independência pessoal e responsabilidade social não são atingidos adequadamente. Objetivo: Avaliar o impacto familiar e a sobrecarga em cuidadores familiares de crianças e adolescentes com DI. Métodos: Estudo transversal de caráter analítico. Os dados foram coletados na Clínica Intelectual, de um Centro de Reabilitação e Readaptação. Foram aplicadas a Escala de Impacto Familiar, Escala de Burden Interview e dois questionários, um sobre o perfil sociodemográfico de cuidadores familiares e outro de perfil demográfico e clínico de crianças e adolescentes com DI. Resultados: Foram entrevistados 50 participantes, a maioria do gênero feminino, com baixa renda mensal e que dedicam maior parte do tempo aos seus filhos. O estudo evidenciou que o diagnóstico da DI pode gerar impactos moderados e em partes, baixa sobrecarga, na vida destes cuidadores. A baixa escolaridade, baixa renda mensal e as rupturas de papéis ocupacionais influenciaram os resultados encontrados. Conclusões: O acesso aos estudos, mercado de trabalho e suporte financeiro, podem repercutir de forma positiva na vida dos cuidadores familiares, diminuindo o impacto e a sobrecarga que o diagnóstico da DI pode causar

Intellectual Disability (ID) is characterized by functional, intellectual and adaptive function deficits, that is, developmental and socioculturais standards related to personal independence and social responsibility are not adequately achieved. Objective: To assess the family impact and burden on family caregivers of children and adolescents with ID. Methods: Analytical cross-sectional study. Data were collected at Clínica Intelectual, from a Rehabilitation and Readaptation Center. The Family Impact Scale, the Burden Interview Scale and two questionnaires were applied, one on the sociodemographic profile of family caregivers and the other on the demographic and clinical profile of children and adolescents with ID. Results: 50 participants were interviewed, mostly female, with low monthly income and who dedicate most of their time to their children. The study showed that the diagnosis of ID can generate moderate impacts and in parts, low burden, in the lives of these caregivers. Low schooling, low monthly income and ruptures in occupational roles influenced the results found. Conclusions: Access to studies, the job market and financial support can have a positive impact on the lives of family caregivers, reducing the impact and burden that the diagnosis of ID can cause

Evolução da sobrecarga de mães de crianças com síndrome congênita pelo zika vírus / Evolution of overload in mothers of children with congenital zika cirus syndrome / Evolución de la sobrecarga en madres de niños con síndrome congénito por el virus zika

Objetivo: analisar a evolução da sobrecarga física, emocional e social de mães de crianças com Síndrome Congênita pelo Zika Vírus (SCZV). Método: participaram 22 mães e seus respectivos filhos com SCZV, inseridas em um Centro Estadual de Reabilitação. Foram aplicados questionários de avaliação sociodemográfica e clínica, a Escala Gross Motor Function Classification System (GMFCS) e o Questionário Avaliação de Sobrecarga do Cuidador Informal (QASCI). Resultados: houve melhora na sobrecarga do cuidado das mães em relação ao aspecto financeiro (p<0,01) e piora no mecanismo de eficácia e controle (p=0,04) e satisfação com o papel e o familiar (p<0,01). Conclusão: a sobrecarga do cuidado de mães de crianças com SCZV apresentou melhoras e pioras em diferentes aspectos durante o período de acompanhamento. Deve-se fortalecer a rede de apoio familiar e garantir cuidado especializado, por uma equipe multiprofissional.

Objective: to analyze the progress of the physical, emotional and social overload from mothers of children with Congenital Zika Virus Syndrome (CZVS). Method: 22 mothers and their respective sons with CZVS participated. They were inserted in a State Rehabilitation Center. Sociodemographic and clinical evaluations questionnaires were applied, the scale Gross Motor Function Classification System Scale (GMFCS), and Informal Caregiver Burden Assessment Questionnaire (ICBAQ). Results: there was an improvement in the mothers' burden of care in relation to the financial aspect (p<0.01) and a worsening in the mechanism of effectiveness and control (p=0.04) and satisfaction with the role and the family (p<0.01). Conclusion: the overload of caring from mothers of CZVS children presented improvement and worsening on different aspects during the follow-up period. The family support network should be strengthened and specialized care provided by a multidisciplinary team should be guaranteed.

Objetivos:analizar la evolución de la sobrecarga física, emocional y social de las madres de niños con Síndrome Congénito por el Virus Zika (SCZV). Método: participaron 22 madres y sus respectivos hijos com SCZV, insertados em um Centro Estadual de Rehabilitación. Se aplicaron cuestionarios de evaluación demográfica, clínica y de sobrecarga del cuidador. Resultados: El estudio mostró que hubo una mejora en la carga de cuidado de las madres en relación al aspecto financiero y un empeoramiento en el mecanismo de efectividad y control, siendo las más afectadas en el segundo cobro, y la satisfacción con el rol y el miembro de la familia. Conclusión: la sobrecarga mostró mejoras y empeoramientos en diferentes aspectos. Esto se debe a las diferentes perspectivas de estas madres. La pandemia parece haber influido en el empeoramiento de algunos dominios, pues centralizó aún más los cuidados en la madre.

Hiperferritinemia y sospecha de sobrecarga de hierro en pacientes del Hospital Pablo Tobón Uribe, entre los años 2010 a 2020 / Hyperferritinemia and suspected iron overload in patients at the Pablo Tobón Uribe Hospital, between 2010 and 2020

Introducción. El objetivo de esta investigación fue comparar el perfil bioquímico y clínico de los pacientes con hiperferritinemia secundaria a hemocromatosis hereditaria (HH), frente a aquellos con hiperferritinemia por causas sospechosas de sobrecarga de hierro (Fe) diferentes a la HH. Metodología. Se estudiaron 92 pacientes (61 hombres y 31 mujeres), remitidos tras la detección de valores de ferritina >300 µg/L en hombres y >200 µg/L en mujeres. En todos se analizaron datos demográficos generales, comorbilidades, motivo de remisión para estudios de hiperferritinemia, manifestaciones clínicas, antecedente familiar de HH y tratamiento reci-bido. Los resultados de las pruebas de laboratorio, imagenología, hallazgos histopatológicos y estudios genéticos, se describieron según la disponibilidad. Resultados. El 96,74 % de los pacientes fueron evaluados en consulta externa, 86,96 % procedían de Medellín o de otros municipios de Antioquia, Colombia. La edad promedio de los participantes fue de 52 años, la principal razón para ser derivados para estudios fue la elevación de los marcadores de Fe sérico, la causa más frecuente de hiperferritinemia fueron los diagnósticos diferentes a la HH (64,13 %) y entre quienes no tenían HH, la etiología metabólica fue la más común (59,32 %). Los pacientes con HH tuvieron niveles más elevados de ferritina y Fe sérico, mientras que en el grupo sin HH se presentaron mayores elevaciones en la saturación de transferrina, transfe-rrina y transaminasas. En pacientes con sobrecarga de Fe, la mutación más frecuentemente encontrada fue la homocigota H63D (36,67 %). Finalmente, 93,94 % de los pacientes con HH recibieron tratamiento con flebotomías, mientras que los cambios en el estilo de vida fueron indicados en el 55,93 % de los pacientes sin HH. Conclusiones. La hiperferritinemia es una presentación clínica frecuente y es importante hacer un abordaje sistemático para identificar sus causas. Aunque la HH es una causa importante de elevación persistente de ferritina, en el enfoque de los pacientes con esta condición, se deben descartar etiologías más frecuentes como la hiperferritinemia de etiología metabólica.

Introduction. The aim of this investigation was to compare the biochemical and clinical profile of patients with secondary hyperferritinemia caused by hereditary hemochromatosis (HH), versus those with hyperferritinemia due to suspected causes of iron (Fe) overload other than HH. Methodology. A total of 92 patients (61 men and 31 women) referred after the detection of ferritin values >300 µg/L in men and >200 µg/L in women were studied. General demographic data, comorbidities, referral reasons for hyperferritinemia studies, clinical manifestations, family history of HH, and treatment received were analyzed in all patients. The results of laboratory tests, medical imaging, histopatho-logical findings, and genetic studies were described based on availability. Results. Of all patients, 96.74% were evaluated as outpatients, 86,96% from the municipality of Medellin in Antioquia, Colombia. The average age of the participants was 52 years, the main reason for being referred for studies was the elevation of serum Fe markers, the most frequent cause of hyperferritinemia in the population studied were conditions other than HH (64.13%), and among those who did not have HH, the metabolic etiology was the most common cause (60%). Patients with HH had higher levels of ferritin and serum Fe, while in the group without HH there were greater elevations of transferrin saturation, transferrin and transaminases. In patients with iron overload, the most frequently found mutation was the homozygous H63D (36.67%). Finally, 93.94% of the patients with HH received phlebotomy treatment, while changes in lifestyle were indicated in 55.93% of patients without HH. Conclusions. Hyperferritinemia is a frequent clinical presentation and it is important to make a systematic approach to identify its causes. Although HH is an important cause of persistent ferritin elevation, in the approach to patients with this condition, more frequent etiologies such as hyperfe-rritinemia of metabolic etiology should be ruled out.

Factores de riesgo asociados a la sobrecarga en cuidadores informales de adultos mayores postrados

Introducción: El envejecimiento de la población es uno de los más importantes fenómenos del siglo XXI. Cada día se hacen más necesarias las investigaciones respecto a este tema. Objetivo: Determinar los factores de riesgo asociados a la sobrecarga en cuidadores informales de adultos mayores postrados del área de salud de Cacocum, Holguín, en el año 2022. Método: Se realizó un estudio observacional descriptivo transversal, en el municipio Cacocum, Holguín, desde el 5 de julio de 2021 hasta el 29 de agosto de 2022. El universo estuvo constituido por 129 cuidadores de adultos mayores postrados (N꓿129) y la muestra por 106 cuidadores informales (n꓿106), obtenida por muestreo no probabilístico intencional. Para determinar la sobrecarga de los cuidadores se utilizó la escala de Zarit. Las variables estudiadas fueron: edad, sexo, nivel educacional, promedio de horas diarias dedicadas al cuidado del enfermo, vínculo del cuidador con el enfermo y presencia de sobrecarga del cuidador. Resultados: Predominó el grupo de edad de 60-69 años y el sexo femenino. Predominaron los cuidadores con el duodécimo grado y los sobrecargados. Existió un predominio de cuidadores con vínculo familiar y una relación significativa con la sobrecarga. Predominaron los cuidadores que dedicaban 18 horas como promedio al día al cuidado del enfermo y existió un predominio de cuidadores que habían dedicado de 3 a 4 años al cuidado del enfermo, se halló una relación significativa con la sobrecarga. Conclusiones: El vínculo del cuidador con el enfermo en cuanto a relación filial y los años dedicados al cuidado del mismo fueron los factores más asociados con el desarrollo de sobrecarga.

Introduction: Population aging is one of the most important phenomenon of the 21st century. Research on this subject is becoming more and more necessary every day. Objective: To determine the risk factors associated with overload in informal caregivers of prostrate older adults in the health area of Cacocum, Holguín, year 2022. Method: A cross-sectional descriptive observational study was carried out in Cacocum, Holguín, from July 5, 2021 to August 29, 2022. A total of 129 caregivers of prostrate older adults (N꓿129) were selected as the study´s universe and the sample consisted of 106 informal caregivers (n꓿106), obtained by nonprobability purposive sampling. The Zarit Scale was used to determine factors associated with overload in caregivers. Variables studied were as follow: age, sex, educational level, daily hours dedicated to caregiving, relationship between the caregiver and the patient, and the manifestation of overload in caregivers. Results: There was predominance in the age group of 60 to 69 years and female sex. Caregivers with twelfth grade of education and manifestation of overloaded were predominant. There was a predominance of caregivers with family ties and a significant relationship with overload. Predominated caregivers who spent an average of 18 hours per day in the care of the patients and the caregivers who had spent 3 to 4 years in caregiving, a significant relationship with overload was found. Conclusions: The relationship established between the caregivers and patients in terms of filial relationship and the years spent in the care provided to the patient were the factors most associated with the development of overload.

Introdução: O envelhecimento populacional é um dos fenômenos mais importantes do século XXI. A pesquisa sobre esse tema está se tornando cada dia mais necessária. Objetivo: Determinar os fatores de risco associados à sobrecarga em cuidadores informais de idosos acamados na área de saúde de Cacocum, Holguín, no ano de 2022. Método: Estudo observacional descritivo transversal realizado no município de Cacocum, Holguín, de 5 de julho de 2021 a 29 de agosto de 2022. O universo foi constituído por 129 cuidadores de idosos acamados (N꓿129) e a amostra por 106 cuidadores informais (n꓿106), obtida por amostragem intencional não probabilística. Para determinar a sobrecarga dos cuidadores foi utilizada a escala de Zarit. As variáveis estudadas foram: idade, sexo, escolaridade, média de horas diárias dedicadas ao cuidado do paciente, vínculo entre cuidador e paciente e presença de sobrecarga do cuidador. Resultados: Predominou a faixa etária de 60 a 69 anos e o sexo feminino. Houve predominância de cuidadores com ensino médio completo e sobrecarregados. Houve predomínio de cuidadores com vínculo burro familiar e uma relação significativa com sobrecarga. Houve predominância de cuidadores que gastam em média 18 horas por dia cuidando do paciente e predominância de cuidadores que passaram de 3 a 4 anos cuidando do paciente, sendo encontrada relação significativa com a sobrecarga. Conclusões: O vínculo do cuidador com o paciente em termos de relação filial e os anos dedicados ao cuidado do paciente foram os fatores mais associados ao desenvolvimento de sobrecarga.

Recognition of Iron Overload Cardiomyopathy / 罕见病研究

Iron overload cardiomyopathy (IOC) is a type of cardiac dysfunction caused by several factors resulting in iron overload in the myocardium. Two major causes of IOC include hereditary hemochromatosis and transfusion-dependent anemia. IOC significantly reduces long-term survival of patients. Since IOC is a rare disease in Asian populations that also lacks etiology-specific manifestations, early diagnoses in clinical practice are challenging. Two groups of patients with high risk of IOC should be further investigated: those who present heart failure of unknown origin will be screened for iron overload followed by confirmation of IOC; and those who have high risk of iron overload or an established diagnosis will be monitored for the development of IOC. Serum ferritin is recommended as the first-line screening test for iron overload, while cardiac magnetic resonance T2* should be used to confirm iron overload in the myocardium. Phlebotomy and iron chelating agents can effectively remove the extra iron from the body, preventing IOC, as well as reverse the disease at an early stage and slow down its progession. Timely diagnosis and treatment is critical in improving the prognosis of patients with IOC. Therefore, this review aims to help clinicians to understand IOC in multiple dimensions including pathogenesis, clinical manifestations, diagnostic methods and treatment choices.

Risk factors of transfusion-related circulating overload in inpatients and their relationship with clinical outcome / 中国输血杂志

【Objective】 To investigate the risk factors of transfusion-related circulating overload (TACO) in hospitalized patients and to analyze its impact on clinical outcome. 【Methods】 The clinical data of 295 patients with blood transfusion admitted to our hospital from June 2020 to June 2022 were retrospectively analyzed. The patients were divided into TACO group (n=23) and control group (n=272) according to the incidence of TACO. The risk factors of TACO were analyzed by Logistic regression, and the differences of hospital stay and mortality between the TACO group and the control group were compared. 【Results】 TACO occurred in 23 of 295 patients, accounting for 7.80% of all transfusion reactions. The incidence of TACO in different transfusion components was different. Elder age, history of heart failure, history of chronic kidney disease, large mean blood transfusion volume, positive fluid balance [OR(95%CI)): 2.022 (1.212-3.372), 1.917(1.258-2.922), 1.719 (1.155-2.560), 2.252 (1.256- 4.039), 2.221 (1.358-3.633)] were the main risk factors for TACO (P<0.05). 【Conclusion】 Elder age, history of heart failure, history of chronic kidney disease, large blood transfusion volume and positive fluid balance were risk factors for TACO, and TACO was associated with increased length of stay and mortality during hospitalization.

Cytopathic effect of rotavirus NSP4 86-175 protein on rat cardiomyocytes and the possible mechanism / 中华微生物学和免疫学杂志

Objective:To investigate the cytopathic effect of amino acids 86-175 of rotavirus non-structural protein 4 (NSP4 86-175) on rat cardiomyocytes and the possible mechanism. Methods:Rat H9C2 cardiomyocytes were treated with NSP4 86-175 protein. Changes in the growth and morphology of the cells were observed. The activity of LDH in the cell culture medium was detected. Fluo-3AM was used to label intracellular free calcium ions and the concentrations of calcium ions in rat cardiomyocytes with and without NSP4 86-175 treatment were detected by confocal laser microscopy. The expression of Bax, Bcl-2, caspase-3, 78 kDa glucose-regulated protein (GRP78), C/EBP homologous protein (CHOP) and caspase-12 at mRNA level was detected by real-time PCR. The expression of caspase-3, caspase-8, caspase-9, GRP78, CHOP and caspase-12 at protein level was detected by Western blot. Results:Normal cardiomyocytes showed a typical myoblast-like morphology, presenting as spindle-shaped cells with clear boundaries. Obvious cytopathic effect, vacuolar degeneration, shriveled and rounded cells, and cell fragmentation were observed after the treatment with purified NSP4 86-175 protein. The activity of LDH in cell culture medium was enhanced by NSP4 86-175 protein. NSP4 86-175 protein also enhanced the fluorescence of the calcium ions in rat cardiomyocytes, promoted cell apoptosis, up-regulated the expression of apoptotic factors including caspase-3, caspase-8, caspase-9 and Bax-2, and increased the expression of classical markers of endoplasmic reticulum stress such as GRP78, CHOP and caspase-12. Conclusions:NSP4 86-175 had a cytopathic effect on rat cardiomyocytes, which might be related to the induced intracellular calcium overload, endoplasmic reticulum stress, apoptosis and necrosis. These results might be used as theoretical reference for further study on rotavirus infection and myocardial injury.

Research progress on the role and mechanism of ferroptosis in renal fibrosis / 中华肾脏病杂志

Ferroptosis is a recently identified type of non-apoptotic cell death, mainly caused by disruption of cellular metabolic pathways such as iron metabolism and reactive oxygen species metabolism, characterized by intracellular iron overload and reactive oxygen species accumulation leading to lipid peroxidation. Ferroptosis is closely related to renal diseases. The role of ferroptosis in diseases such as acute kidney injury and renal cell carcinoma has been extensively studied, and new discoveries and advances have been made in its relationship with renal fibrosis. The paper systematically reviews the relationship between ferroptosis and renal fibrosis in terms of the latest regulatory mechanisms of ferroptosis and its role in renal fibrosis, and explores the potential clinical application of targeted inhibition of ferroptosis to prevent renal fibrosis.

Application of abdominal venous Doppler flow pattern in volume management / 中华危重病急救医学

Accurate assessment of hemodynamic status is crucial for volume management. Venous congestion caused by volume overload can cause organ damage and poor prognosis. Traditional critical ultrasound, including inferior vena cava ultrasound, echocardiography, and lung ultrasound, is widely used in volume management. However, it is unable to evaluate the organ blood flow. The blood flow pattern of abdominal vein changes dynamically with venous congestion, which is an index for evaluating the blood flow of hepatic vein, portal vein and internal renal vein by Doppler ultrasound. This article reviews the acquisition and grading standards of abdominal venous blood flow patterns, their application and limitations in volume management, with a view to providing help for early clinical identification of terminal organ congestion, implementation of fluid negative balance intervention and individualized volume management.

Correlation of Transient Elastography With MRI T2* and Serum Ferritin Levels in Children With Transfusion-Dependent Thalassemia

Objectives: We investigated the correlation of transient elastography (TE) with MRI R2* values and serum ferritin in patients with transfusion-dependent thalassemia (TDT) Methods: We reviewed hospital records of 59 patients with TDT aged ?8 years without any evidence of chronic liver disease and who had fibroscan within 3 months of MRI T2*, who seen at our center between January, 2014 and December, 2019. Spearman correlation and linear regression analysis were used to evaluate the correlation between TE liver stiffness measurements and R2* MRI values and with serum ferritin. Results: Mean (SD) age of the subjects was 13.0 (3.1) years and body mass index was 16.6 (2.3) kg/m2. Mean liver stiffness measurement, MRI T2*(3T), corresponding MRI R2*(3T), and ferritin values were 6.55 (3.10) kPa, 3.4 (4.6) milliseconds, 616.20 (383.9) Hz, and 2874.69 (1570.7) ng/ mL, respectively. TE measurements correlated with MRI R2* values (r=0.61; P=0.001) and with serum ferritin level (r=0.59, P=0.001). Conclusion: TE is a reliable tool to estimate hepatic iron overload in patients with TDT.