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El escorbuto es una enfermedad producida por déficit de vitamina C. Aunque es poco frecuente, en los últimos años observamos un incremento de casos en niños con trastornos de la conducta alimentaria. Sus manifestaciones son variadas, ya que esta vitamina actúa como cofactor en numerosos procesos, como la síntesis de colágeno. Las manifestaciones cutáneas características son las petequias, equimosis e hiperqueratosis. El compromiso mucoso se manifiesta como gingivitis con hipertrofia, hemorragias y pérdida de piezas dentarias. El diagnóstico es clínico y puede confirmarse mediante la determinación de la vitamina C plasmática. El objetivo de este trabajo es describir una cohorte de pacientes diagnosticados en los últimos años, manifestaciones clínicas y hallazgos en relación con su conducta alimentaria y trastornos del neurodesarrollo.
Scurvy is a disease caused by vitamin C deficiency. Although rare, in recent years, the number of scurvy cases in children with eating disorders has increased. Its manifestations are varied because vitamin C is a cofactor in numerous processes, such as collagen synthesis. The typical skin manifestations include petechiae, bruising, and hyperkeratosis. Mucosal involvement manifests as gingivitis with hypertrophy, bleeding, and loss of teeth. The diagnosis is based on clinical findings and may be confirmed by measuring plasma vitamin C levels. The objective of this study was to describe a cohort of patients diagnosed with scurvy in recent years, its clinical manifestations, and findings in relation to their eating behavior and neurodevelopmental disorders.
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Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Escorbuto/complicações , Escorbuto/etiologia , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Preferências AlimentaresRESUMO
Objectives: The study aimed to know the clinical, demographic, diagnostic, and treatments characteristics in patients with cardiomyopathies in Mexico. Methods: The Mexican Registry of Cardiomyopathies (REMEMI) is an observational, prospective and national study of patients with cardiomyopathies, which includes: Dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM) and arrhythmogenic cardiomyopathy of the right ventricle (ARVC). Results: A total of 1026 patients from most states of the Mexican Republic (19) were included, with 494 corresponding to DCM, 490 to HCM, 35 to RCM, and seven to ARVC. We found significant differences between the various cardiomyopathy phenotypes (p < 0.05) in the coexistence with diabetes, use of implantable defibrillator, presence of ventricular tachycardia, and NYHA functional class ≥ 1. There were no significant differences in age and predominant gender between each one. When analyzing by phenotype, we found that patients with HCM have limited use of diagnostic methods considered indispensable, such as cardiac magnetic resonance, Holter monitoring, and genetic testing in patients and their relatives. Conclusion: Seeking contemporary information through observational registries in Mexico is a valuable opportunity to understand the characteristics of the methods used in the study and treatment of diseases such as cardiomyopathies by Mexican physicians. It can provide information for the implementation of management guidelines and strategies to disseminate findings to improve healthcare in our country.
Objetivo: Conocer las características clínicas y demográficas, así como las herramientas diagnósticas y tratamientos utilizados en pacientes con miocardiopatías en México. Métodos: El Registro Mexicano de Miocardiopatías (REMEMI) es un estudio observacional, prospectivo y nacional de pacientes con diagnóstico de miocardiopatía, que incluye: miocardiopatía dilatada (MCD), miocardiopatía hipertrófica (MCH), miocardiopatía restrictiva (MCR) y miocardiopatía arritmogénica del ventrículo derecho (MAVD). Resultados: Se incluyó un total de 1026 pacientes provenientes de la mayoría de los estados de la República Mexicana (19), de los cuales 494 corresponden a MCD, 490 a MCH, 35 a MCR y 7 a MAVD. Encontramos diferencias significativas entre los diversos fenotipos de miocardiopatías (p < 0.05) en la coexistencia con diabetes, empleo de desfibrilador implantable, presencia de taquicardia ventricular y la clase funcional de la NYHA ≥ 1. No hubo diferencias significativas en la edad y sexo predominante entre cada uno. Al analizar por fenotipo encontramos que la MCH tienen poco empleo de métodos diagnósticos considerados como indispensables como la resonancia magnética cardiaca, el monitoreo Holter y el estudio genético en los pacientes y sus familiares. Conclusión: La búsqueda de información contemporánea a través de registros observacionales en México es una buena oportunidad para conocer las características de los métodos empleados en el estudio y tratamiento de enfermedades como las miocardiopatías por médicos mexicanos, y puede ofrecernos información para la implementación de guías de manejo y estrategias de difusión de los hallazgos para así mejorar el cuidado de la salud en nuestro país.
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Avoidant restrictive food intake disorder (ARFID) is an eating disorder characterized by persistent insufficient nutritional and/or energy intake. ARFID, before referred to as "selective eating disorder", was introduced recently in the DSM-5 as a replacement for and expansion of the previous diagnosis. Individuals with ARFID may limit food variety and intake due to avoidance based on the sensory characteristics of the food or related to any adverse consequences of eating without the intention of losing weight and concerns of body image. The limited understanding of avoidant and restrictive eating poses challenges to effective treatment and management, impacting directly on the growth and development of children and adolescents. The ARFID neurobiological concept has not yet been clearly defined to clinical practice for nutritionists, thereby hindering screening and impeding the development of treatment recommendations. This narrative review provide useful practical information to consult the pathophysiology, the neurobiology, the clinical features, the assessment and the treatment for healthcare professionals seeking to enhance their clinical knowledge and management of this disorder.
Avoidant restrictive food intake disorder (ARFID) is an eating disorder characterized by persistent insufficient nutritional and/or energy intake. Individuals with ARFID exhibit limited food intake and variety, often due to a lack in eating, without the primary goal of weight loss. The limited understanding of avoidant and restrictive eating poses challenges in terms of effective treatment and management, which directly impacts the growth and development of children and adolescents, as well as their nutrition and psychosocial well-being. ARFID is a relatively recent diagnostic classification, representing a burgeoning field of study. The identification of diagnostic criteria and the pursuit of new knowledge in this area have only recently begun. Consequently, assessment tools and treatment strategies are still in the process of development and validation. This narrative review explored the neurobiological perspective of ARFID using the three-dimensional model, examined its etiology and risk factors, evaluated clinical screening and evaluation tools, discussed common clinical complications, and presented different types of nutritional, behavioural, and pharmacological interventions used in ARFID treatment.
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Ventricular septal defect (VSD) is one of the most common congenital defects. It has a wide variety of clinical spectrum of presentation depending on the location and size of the defect. Generally, small restrictive VSDs present spontaneous closure during follow-up. A clinical case is presented with suspected persistent perimembranous VSD, with described intraoperative anatomical findings of aneurysmal cribriform membrane, ruling out VSD.
La comunicación interventricular (CIV) es uno de los defectos congénitos más comunes. Tiene una amplia variedad de espectro clínico de presentación dependiendo de la localización y tamaño del defecto. Por lo general, en los CIV restrictivos pequeños presentan un cierre espontáneo durante el seguimiento. Se presenta un caso clínico con sospecha de CIV perimembranosa persistente, con hallazgos anatómicos intraoperatorios descritos de membrana cribiforme aneurismática descartandose CIV.
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Humanos , Feminino , Pessoa de Meia-Idade , Comunicação Interventricular/cirurgia , Comunicação Interventricular/diagnóstico por imagem , Tórax/diagnóstico por imagem , Ecocardiografia , Cuidados IntraoperatóriosRESUMO
Intensive multidisciplinary intervention is increasingly recognized as the standard of care for children with complex feeding problems. Much, however, remains unknown about this treatment model. This current qualitative, prospective study sought to identify intensive multidisciplinary day hospital programs operating in the US, describe the treatment approach, and summarize current capacity.
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Equipe de Assistência ao Paciente , Humanos , Estados Unidos , Estudos Prospectivos , Lactente , Pré-Escolar , Criança , CrechesRESUMO
Abstract Objectives To provide a narrative review of the main eating disorders (ED), specifically focusing on children and adolescents. This review also aims to help the pediatrician identify, diagnose, and refer children and adolescents affected by this medical condition and inform them about the multidisciplinary treatment applied to these disorders. Data source The research was conducted in the Scientific Electronic Library Online (SciELO), Medical Literature Analysis and Retrieval System Online (Medline) databases via PubMed and Embase. Consolidated Guidelines and Guidebooks in the area were also included in the review to support the discussion of ED treatment in childhood and adolescence. Data synthesis ED are psychiatric condition that usually begins in adolescence or young adulthood but can occur at any time of life, including in childhood, which has been increasingly frequent. Pediatricians are the first professionals to deal with the problem and, therefore, must be well trained in identifying and managing these disorders, which can be severe, and determine physical complications and quality of life of patients and their families. Conclusion ED has shown an increase in prevalence, as well as a reduction in the age of diagnosed patients, requiring adequate detection and referral by pediatricians. The treatment requires a specialized multidisciplinary team and is generally long-lasting for adequate recovery of affected individuals.
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Scurvy is a disease caused by vitamin C deficiency. Although rare, in recent years, the number of scurvy cases in children with eating disorders has increased. Its manifestations are varied because vitamin C is a cofactor in numerous processes, such as collagen synthesis. The typical skin manifestations include petechiae, bruising, and hyperkeratosis. Mucosal involvement manifests as gingivitis with hypertrophy, bleeding, and loss of teeth. The diagnosis is based on clinical findings and may be confirmed by measuring plasma vitamin C levels. The objective of this study was to describe a cohort of patients diagnosed with scurvy in recent years, its clinical manifestations, and findings in relation to their eating behavior and neurodevelopmental disorders.
El escorbuto es una enfermedad producida por déficit de vitamina C. Aunque es poco frecuente, en los últimos años observamos un incremento de casos en niños con trastornos de la conducta alimentaria. Sus manifestaciones son variadas, ya que esta vitamina actúa como cofactor en numerosos procesos, como la síntesis de colágeno. Las manifestaciones cutáneas características son las petequias, equimosis e hiperqueratosis. El compromiso mucoso se manifiesta como gingivitis con hipertrofia, hemorragias y pérdida de piezas dentarias. El diagnóstico es clínico y puede confirmarse mediante la determinación de la vitamina C plasmática. El objetivo de este trabajo es describir una cohorte de pacientes diagnosticados en los últimos años, manifestaciones clínicas y hallazgos en relación con su conducta alimentaria y trastornos del neurodesarrollo.
Assuntos
Escorbuto , Humanos , Escorbuto/diagnóstico , Escorbuto/complicações , Masculino , Feminino , Criança , Pré-Escolar , Adolescente , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Preferências Alimentares , LactenteAssuntos
Transtorno do Espectro Autista , Transtorno Alimentar Restritivo Evitativo , Hipersensibilidade Alimentar , Humanos , Transtorno do Espectro Autista/complicações , Hipersensibilidade Alimentar/complicações , Hipersensibilidade Alimentar/diagnóstico , Masculino , Criança , Pré-Escolar , FemininoRESUMO
INTRODUCTION: Shrinking lung syndrome (SLS) is a rare manifestation of systemic lupus erythematosus. Our aim was to describe the clinical, radiological, and functional characteristics of a cohort with SLS and its evolution over time. METHODS: A retrospective study was conducted between 2009 and 2018. Demographic, clinical, functional, radiological, and treatment data were collected. RESULTS: Out of a total of 225 patients, 11 presented with SLS (prevalence of 4.8%). Two patients were excluded. The mean age was 39.33±16 years, and 6 were female. The main symptoms were dyspnea and pleuritic pain. The mean forced vital capacity was 49%, total lung capacity was 60%, carbon monoxide diffusing capacity was 66%, carbon monoxide transference factor was 128%, maximal inspiratory pressure was 66%, and maximal expiratory pressure was 82%. All patients received corticosteroids. After a median follow-up of 19 months, 4 cases showed improvement, and 4 cases remained stable. CONCLUSIONS: SLS should be considered in every lupus patient with unexplained dyspnea. Although it often shows improvement, many cases experience persistent deterioration despite treatment.
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Doenças do Sistema Digestório , Pneumopatias , Lúpus Eritematoso Sistêmico , Doenças Musculares , Humanos , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Masculino , Estudos Retrospectivos , Monóxido de Carbono/uso terapêutico , Síndrome , Pneumopatias/diagnóstico , Lúpus Eritematoso Sistêmico/diagnóstico , Dispneia/etiologia , Pulmão/diagnóstico por imagemRESUMO
Resumo Menina de seis anos com cardiomiopatia restritiva e hipertrabeculação na qual, devido ao início precoce da doença, foi realizado sequenciamento completo do exoma, revelando a presença de uma nova variante heterozigótica missense no gene FLNC. A mesma variante genética também foi identificada em seu pai, que, já adulto, apresentava resultados de imagem normais e não apresentava sintomas. Esta variante não foi relatada em bancos de dados populacionais ou na literatura médica atual e é classificada como provavelmente patogênica.
Abstract A six-year-old girl with restrictive cardiomyopathy and hypertrabeculation, due to the early onset of her disease, whole exome sequencing was conducted, revealing the presence of a novel heterozygous missense variant in the FLNC gene. The same gene variant was also identified in her father, who, at an adult age, displayed normal imaging results and was symptom-free. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic.
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OBJECTIVES: To provide a narrative review of the main eating disorders (ED), specifically focusing on children and adolescents. This review also aims to help the pediatrician identify, diagnose, and refer children and adolescents affected by this medical condition and inform them about the multidisciplinary treatment applied to these disorders. DATA SOURCE: The research was conducted in the Scientific Electronic Library Online (SciELO), Medical Literature Analysis and Retrieval System Online (Medline) databases via PubMed and Embase. Consolidated Guidelines and Guidebooks in the area were also included in the review to support the discussion of ED treatment in childhood and adolescence. DATA SYNTHESIS: ED are psychiatric condition that usually begins in adolescence or young adulthood but can occur at any time of life, including in childhood, which has been increasingly frequent. Pediatricians are the first professionals to deal with the problem and, therefore, must be well trained in identifying and managing these disorders, which can be severe, and determine physical complications and quality of life of patients and their families. CONCLUSION: ED has shown an increase in prevalence, as well as a reduction in the age of diagnosed patients, requiring adequate detection and referral by pediatricians. The treatment requires a specialized multidisciplinary team and is generally long-lasting for adequate recovery of affected individuals.
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Transtornos da Alimentação e da Ingestão de Alimentos , Qualidade de Vida , Criança , Humanos , Adolescente , Adulto Jovem , Adulto , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/terapiaRESUMO
Abstract Avoidant or Restrictive Food Intake Disorder (ARFID) is an eating disorder (ED) not common in adults. In this article we present a clinical case of ARFID in a 37-year-old male patient treated in an ED center in Medellin, Colombia; displaying anxious symptoms that began a year earlier and concomitant weight loss, following a traumatic event causing an overall impairment with that patient. Several medical evaluations/examinations looking for organic causes, were excluded. Interventions were implemented by a psychiatry, a psychotherapist using cognitive-behavior therapy (CBT), and a nutritionist, all in face-to-face modality, which were carried out weekly for the first three months, then biweekly and subsequently quarterly. each lasting approximately 40-60 minutes. After the set of pharmacological interventions and psychotherapy, a great improvement in the functionality of the patient was observed. Improvement was found with respect to eating in public, food variation and panic attacks. In the absence of guidelines, it is important to use standardized and replicable treatments in this population.
Resumen El trastorno evitativo restrictivo de la ingesta (TERIA) es un trastorno alimentario (TCA) raro en adultos. Se presenta el caso de un hombre de 37 años con TERIA y trastorno de pánico atendido en un centro para TCA en Medellín, Colombia, quien presentó un año de síntomas ansiosos y pérdida de peso después de evento traumático, generando disfuncionalidad. Fue evaluada y excluida organicidad. Se realizaron intervenciones por parte de psiquiatría, psicoterapia con enfoque cognitivo conductual y nutrición, todas en modalidad presencial, las cuales se realizaron semanalmente los primeros tres meses, luego quincenalmente y posteriormente trimestralmente. Cada una con una duración de 40-60 minutos aproximadamente por sesión. Posterior al conjunto de intervenciones farmacológicas y psicoterapia, se observó una gran mejoría la funcionalidad del paciente, se encontró mejoría con respecto a comer en público, variación en los alimentos y ataques de panico. Ante la ausencia de guías de manejo de TERIA en adultos es relevante realizar tratamientos estandarizados que puedan ser replicados.
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Introducción. Los niños con trastorno del espectro autista (TEA) presentan dificultades de adaptación a situaciones estresantes, como la pandemia por COVID-19. Objetivo. Evaluar el impacto del primer año de pandemia en las dificultades alimentarias de niños con TEA. Población y métodos. Se invitó a participar a cuidadores de niños con TEA no sindromático (edad: 2-18 años) de una unidad de neurodesarrollo. Los participantes respondieron en línea un cuestionario y la escala de evaluación de problemas de conducta alimentaria (BPFAS por su sigla en inglés) antes y durante el primer año de pandemia. Se calculó un puntaje de prioridad (producto entre promedio de frecuencia y problema) para cada ítem del BPFAS. Resultados. El 56,6 % (86/152) de los cuidadores contestó la encuesta (madre 74,4 %), mediana de edad 6,3 años (p25-p75: 4,7-8,2); el 80,2 % de los niños eran de sexo masculino; el 58,1 % mantuvo terapia durante la pandemia y el 61,6 % presentaba problemas de comportamiento previo a esta. Durante el primer año de pandemia, los niños presentaron mayor intensidad en dificultades conductuales (34,9 %) y de alimentación (61,6 %); sin embargo, el 31,4 % refirió mejoría en la alimentación. No existieron diferencias significativas entre puntajes BPFAS antes y durante la pandemia. Los ítems con mayor puntaje de prioridad fueron "se levanta de la mesa durante la hora de comer", "no probar alimentos nuevos", "no come verduras", "no come frutas". Conclusiones. Hubo alta frecuencia de dificultades en las conductas alimentarias durante el primer año de pandemia. No se presentaron diferencias en las características de estas conductas antes y durante la pandemia.
Introduction. Children with autism spectrum disorder (ASD) have difficulties adapting to stressful situations, such as the COVID-19 pandemic. Objective. To assess the impact of the first year of the pandemic on feeding difficulties in children with ASD. Population and methods. The caregivers of children and adolescents with non-syndromic ASD (age: 218 years) from a neurodevelopment unit were invited to participate. Participants completed a questionnaire and the Behavioral Pediatrics Feeding Assessment Scale (BPFAS) online before and during the first year of the pandemic. A priority score (product between the average frequency and the problem) for each BPFAS item was estimated. Results. Among the caregivers, 56.6% (86/152) completed the survey (mother: 74.4%); children's median age was 6.3 years (p25p75: 4.78.2); 80.2% of children were males; 58.1% continued with their therapy during the pandemic; and 61.6% had behavioral problems before the pandemic. During the first year of the pandemic, children had greater behavioral problems (34.9%) and feeding difficulties (61.6%); however, 31.4% of caregivers referred improvements in feeding. There were no significant differences in the BPFAS scores before and during the pandemic. The following items obtained the highest priority scores: gets up from table during meal, does not try new food, does not eat vegetables, does not eat fruits. Conclusions. A high frequency of feeding difficulties was noted during the first year of the pandemic. No differences were observed in feeding characteristics before and during the pandemic.
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Humanos , Pré-Escolar , Criança , Adolescente , Transtorno do Espectro Autista/epidemiologia , COVID-19 , Comportamento Alimentar , Pandemias , MãesRESUMO
Resumen Objetivo: Describir la evolución de las cadenas livianas libres séricas (CLL) en el período comprendido entre el trasplante cardíaco ortotópico (TCO) y el trasplante de células progenitoras hematopoyéticas (TCPH), la respuesta hematológica al año tras el TCPH y el tratamiento quimioterápico e inmunosupresor en pacientes con amiloidosis AL. Método: Serie de casos de pacientes consecutivos con diagnóstico de amiloidosis AL que recibieron TCO seguido de TCPH del Registro Institucional de Amiloidosis del Hospital Italiano de Buenos Aires, entre enero de 2010 y noviembre de 2021. Se reportaron los valores de CLL entre trasplantes y al año del TCPH. Las variables cuantitativas se describieron como mediana e intervalo intercuartil, y las variables categóricas como frecuencias absolutas y relativas. Resultados: De 106 pacientes con amiloidosis AL, seis tuvieron TCO seguido de TCPH. La mediana de edad fue de 55 años. La mayoría eran hombres (n = 5). En el período entre trasplantes, la CLL involucrada disminuyó en dos pacientes y se mantuvo estable en tres. Todos lograron la remisión hematológica completa al año del TCPH. Un solo paciente presentó recaída en el órgano sólido trasplantado. Tacrolimus, micofenolato de mofetilo y corticoides fue el esquema inmunosupresor utilizado después del TCO. Conclusiones: El TCO representa una opción de tratamiento en pacientes con falla cardíaca grave por amiloidosis, permitiendo luego un tratamiento intensivo con quimioterapia de inducción y TCPH. Si bien faltan estudios, la terapia inmunosupresora después del TCO podría tener algún efecto sobre las células plasmáticas clonales.
Abstract Objective: To describe the evolution of serum free light chains (FLC) in the period between orthotopic heart transplantation (OHT) and autologous stem cell transplantation (ASCT), the hematological response one year after ASCT and chemotherapy and immunosuppressive treatment in patients with AL amyloidosis. Method: Case series of consecutive patients diagnosed with AL amyloidosis who received OHT followed by ASCT from the Institutional Registry of Amyloidosis of the Italian Hospital of Buenos Aires, between January 2010 and November 2021. FLC values between transplants and at year post ASCT. Quantitative variables were described with their median and interquartile range. Categorical variables as absolute and relative frequencies. Results: Of 106 patients with AL amyloidosis, 6 had an OHT followed by ASCT. The median age was 55 years. Most were men (n = 5). In the period between transplants, the involved CLL decreased in two patients and remained stable in three. All achieved complete hematologic remission 1 year after ASCT. A single patient presented relapse in the transplanted solid organ. Tacrolimus, mycophenolate mofetil, and corticosteroids were the immunosuppressive regimen used after OHT. Conclusions: OHT represents a treatment option in patients with severe heart failure due to amyloidosis, allowing later intensive treatment with induction chemotherapy and ASCT. Although studies are lacking, immunosuppressive therapy after OHT might have some effect on clonal plasma cells.
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OBJECTIVE: To describe the evolution of serum free light chains (FLC) in the period between orthotopic heart transplantation (OHT) and autologous stem cell transplantation (ASCT), the hematological response one year after ASCT and chemotherapy and immunosuppressive treatment in patients with AL amyloidosis. METHOD: Case series of consecutive patients diagnosed with AL amyloidosis who received OHT followed by ASCT from the Institutional Registry of Amyloidosis of the Italian Hospital of Buenos Aires, between January 2010 and November 2021. FLC values between transplants and at year post ASCT. Quantitative variables were described with their median and interquartile range. Categorical variables as absolute and relative frequencies. RESULTS: Of 106 patients with AL amyloidosis, 6 had an OHT followed by ASCT. The median age was 55 years. Most were men (n = 5). In the period between transplants, the involved CLL decreased in two patients and remained stable in three. All achieved complete hematologic remission 1 year after ASCT. A single patient presented relapse in the transplanted solid organ. Tacrolimus, mycophenolate mofetil, and corticosteroids were the immunosuppressive regimen used after OHT. CONCLUSIONS: OHT represents a treatment option in patients with severe heart failure due to amyloidosis, allowing later intensive treatment with induction chemotherapy and ASCT. Although studies are lacking, immunosuppressive therapy after OHT might have some effect on clonal plasma cells.
OBJETIVO: Describir la evolución de las cadenas livianas libres séricas (CLL) en el período comprendido entre el trasplante cardíaco ortotópico (TCO) y el trasplante de células progenitoras hematopoyéticas (TCPH), la respuesta hematológica al año tras el TCPH y el tratamiento quimioterápico e inmunosupresor en pacientes con amiloidosis AL. MÉTODO: Serie de casos de pacientes consecutivos con diagnóstico de amiloidosis AL que recibieron TCO seguido de TCPH del Registro Institucional de Amiloidosis del Hospital Italiano de Buenos Aires, entre enero de 2010 y noviembre de 2021. Se reportaron los valores de CLL entre trasplantes y al año del TCPH. Las variables cuantitativas se describieron como mediana e intervalo intercuartil, y las variables categóricas como frecuencias absolutas y relativas. RESULTADOS: De 106 pacientes con amiloidosis AL, seis tuvieron TCO seguido de TCPH. La mediana de edad fue de 55 años. La mayoría eran hombres (n = 5). En el período entre trasplantes, la CLL involucrada disminuyó en dos pacientes y se mantuvo estable en tres. Todos lograron la remisión hematológica completa al año del TCPH. Un solo paciente presentó recaída en el órgano sólido trasplantado. Tacrolimus, micofenolato de mofetilo y corticoides fue el esquema inmunosupresor utilizado después del TCO. CONCLUSIONES: El TCO representa una opción de tratamiento en pacientes con falla cardíaca grave por amiloidosis, permitiendo luego un tratamiento intensivo con quimioterapia de inducción y TCPH. Si bien faltan estudios, la terapia inmunosupresora después del TCO podría tener algún efecto sobre las células plasmáticas clonales.
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Amiloidose , Transplante de Células-Tronco Hematopoéticas , Amiloidose de Cadeia Leve de Imunoglobulina , Masculino , Humanos , Pessoa de Meia-Idade , Feminino , Amiloidose de Cadeia Leve de Imunoglobulina/terapia , Transplante Autólogo , Recidiva Local de Neoplasia , Amiloidose/terapia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVES: To investigate the changes in the coagulation function and hemodynamic parameters in patients with Hemorrhagic Traumatic Shock (HTS) after restrictive fluid resuscitation. METHODS: A total of 139 patients with HTS admitted to our hospital were enrolled, among which 69 HTS patients were divided into the control group and the remaining 70 HTS patients as the observation group. Patients in the control group underwent regular fluid resuscitation, while those in the observation group underwent restrictive fluid resuscitation. RESULTS: During treatment, 70 patients in the observation group had a lower bleeding amount, infusion amount, and blood transfusion volume than those in the control group (p < 0.05). After treatment, patients in the observation group had better hemodynamic parameters and blood coagulation than those in the control group (p < 0.05), and the incidence rate in the observation group was only 12.9%, which was significantly lower than 60.87% in the control group, while the cure rate in the observation group was 100%, which was significantly higher than that in the control group (p < 0.05). CONCLUSIONS: Restrictive fluid resuscitation could remarkably increase the cure rate and reduce the bleeding amount during HTS treatment, thereby benefiting the recovery of the patient's blood coagulation.
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Choque Hemorrágico , Choque Traumático , Humanos , Choque Traumático/terapia , Choque Hemorrágico/tratamento farmacológico , Hemodinâmica , Hidratação , Coagulação Sanguínea , RessuscitaçãoRESUMO
BACKGROUND: Endomyocardial fibrosis is a grim disease. It is the most common restrictive cardiomyopathy worldwide, but the exact etiology and pathogenesis both remain unknown. Endomyocardial fibrosis is recurrently associated with chronic eosinophilia and probable dietary, environmental, and infectious factors, which contribute not only to the onset of the disease (an inflammatory process) but also to its progression and maintenance (endomyocardial damage and scar formation). The trademark of the disease is the fibrotic obliteration of the affected ventricle. The combination of such processes produces focal or diffuse endocardial thickening and fibrosis, which leads to restrictive physiology. Endomyocardial fibrosis affects the apices of the right and the left ventricle in around 50% of cases and most often extends to the posterior leaflet of the mitral valve. Sometimes it involves the papillary muscle and chordae tendineae, causing atrioventricular valve dysfunction. The fibrosis does not affect extracardiac organs. This cardiomyopathy is most recurrent in tropical areas of the world. CASE PRESENTATION: A 67-year-old Black male with past medical history of schistosomiasis infection in childhood presented with progressive dyspnea, lower extremity edema, and weakness for 2 years. He was diagnosed with endomyocardial fibrosis. The echocardiogram showed an increased thickness in the septum (17 mm) and free left ventricular wall (15 mm), obliteration of the left ventricular apex and inflow tract, and mitral valve regurgitation. Cardiac magnetic resonance imaging revealed apical left ventricle wall thickening with left ventricular apical obliteration associated with enlargement of the respective atrium. Delayed enhancement imaging showed endomyocardium enhancement involving left ventricular apex, mitral valve regurgitation due to annulus dilation, and a thrombus at left ventricular apex. He underwent open heart surgery with mitral valve replacement, endocardial decortication,â¯endomyocardiectomy, and two-vessel coronary artery bypass grafting as preoperative coronary angiogram showed mild right coronary artery and proximal left anterior descending artery severe lesions. Postoperative course was uncomplicated, and he was discharged successfully from the hospital. Six months after surgery, he was New York Heart Association functional class I. CONCLUSION: The purpose of this case report is to illustrate the aspects of endomyocardial fibrosis by reporting a case of this entity. In conclusion, progress in imaging techniques and treatment in a reference institution for cardiac diseases contribute to earlier diagnosis and survival in patients with endomyocardial fibrosis.
Assuntos
Fibrose Endomiocárdica , Insuficiência da Valva Mitral , Humanos , Masculino , Idoso , Fibrose Endomiocárdica/complicações , Fibrose Endomiocárdica/diagnóstico por imagem , Ventrículos do Coração/patologia , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Mitral/cirurgia , Miocárdio/patologia , FibroseRESUMO
Introduction. Children with autism spectrum disorder (ASD) have difficulties adapting to stressful situations, such as the COVID-19 pandemic. Objective. To assess the impact of the first year of the pandemic on feeding difficulties in children with ASD. Population and methods. The caregivers of children and adolescents with non-syndromic ASD (age: 2-18 years) from a neurodevelopment unit were invited to participate. Participants completed a questionnaire and the Behavioral Pediatrics Feeding Assessment Scale (BPFAS) online before and during the first year of the pandemic. A priority score (product between the average frequency and the problem) for each BPFAS item was estimated. Results. Among the caregivers, 56.6% (86/152) completed the survey (mother: 74.4%); children's median age was 6.3 years (p25-p75: 4.7-8.2); 80.2% of children were males; 58.1% continued with their therapy during the pandemic; and 61.6% had behavioral problems before the pandemic. During the first year of the pandemic, children had greater behavioral problems (34.9%) and feeding difficulties (61.6%); however, 31.4% of caregivers referred improvements in feeding. There were no significant differences in the BPFAS scores before and during the pandemic. The following items obtained the highest priority scores: gets up from table during meal, does not try new food, does not eat vegetables, does not eat fruits. Conclusions. A high frequency of feeding difficulties was noted during the first year of the pandemic. No differences were observed in feeding characteristics before and during the pandemic.
Introducción. Los niños con trastorno del espectro autista (TEA) presentan dificultades de adaptación a situaciones estresantes, como la pandemia por COVID-19. Objetivo. Evaluar el impacto del primer año de pandemia en las dificultades alimentarias de niños con TEA. Población y métodos. Se invitó a participar a cuidadores de niños con TEA no sindromático (edad: 2-18 años) de una unidad de neurodesarrollo. Los participantes respondieron en línea un cuestionario y la escala de evaluación de problemas de conducta alimentaria (BPFAS por su sigla en inglés) antes y durante el primer año de pandemia. Se calculó un puntaje de prioridad (producto entre promedio de frecuencia y problema) para cada ítem del BPFAS. Resultados. El 56,6 % (86/152) de los cuidadores contestó la encuesta (madre 74,4 %), mediana de edad 6,3 años (p25-p75: 4,7-8,2); el 80,2 % de los niños eran de sexo masculino; el 58,1 % mantuvo terapia durante la pandemia y el 61,6 % presentaba problemas de comportamiento previo a esta. Durante el primer año de pandemia, los niños presentaron mayor intensidad en dificultades conductuales (34,9 %) y de alimentación (61,6 %); sin embargo, el 31,4 % refirió mejoría en la alimentación. No existieron diferencias significativas entre puntajes BPFAS antes y durante la pandemia. Los ítems con mayor puntaje de prioridad fueron "se levanta de la mesa durante la hora de comer", "no probar alimentos nuevos", "no come verduras", "no come frutas". Conclusiones. Hubo alta frecuencia de dificultades en las conductas alimentarias durante el primer año de pandemia. No se presentaron diferencias en las características de estas conductas antes y durante la pandemia.
Assuntos
Transtorno do Espectro Autista , COVID-19 , Masculino , Feminino , Criança , Humanos , Adolescente , Pré-Escolar , Transtorno do Espectro Autista/epidemiologia , Pandemias , Comportamento Alimentar , MãesRESUMO
Objective: To explore whether maternal feeding styles at 12 months predict child Body Mass Index (BMI) z-scores at 72 months and evaluate whether BMI z-scores at 18 months mediates the association. Methods: Data from 239 mother-child pairs participating in a parenting intervention were analyzed. Feeding information was ascertained at 12 months by questionnaire with feeding styles identified using factor analysis. Children's weight and length/height were measured at 18 and 72 months and BMI z-scores computed. Maternal sociodemographic data, depressive symptoms and language skills were obtained by questionnaire. Multilevel linear regression analysis was used to examine whether feeding styles predicted 72 month BMI z-scores. Complete case analysis was conducted and multiple imputation used to treat missing values of explanatory and outcome variables at 18 and 72 months. Mediational analysis was performed to assess the indirect effects of feeding styles on 72 month BMI z-scores via 18 month BMI z-scores. Results: Restrictive feeding at age 12 months predicted higher 72 month BMI z-scores in both complete case analysis [ß (95%CI): 0.19 (0.02, 0.37)] and multiple imputation [ß (95%CI): 0.20 (0.02, 0.39)]. Uninvolved, forceful, indulgent and responsive feeding styles were not significant predictors of 72 month BMI z-scores. A significant indirect effect was observed between restrictive feeding and child BMI z-scores at 72 months via 18 month BMI z-scores [ß (95% CI) 0.12 (0.03, 0.22)]. Conclusion: Restrictive feeding at 12 months was associated with higher BMI z-scores at 72 months and appeared to be mediated by BMI z-scores at 18 months.