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1.
Enferm Infecc Microbiol Clin ; 38(9): 438-443, 2020 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33161954

RESUMO

Primary immunodeficiencies (PIDs) are rare, undiagnosed and potentially fatal diseases. Clinical manifestations of PID can be fatal or leave sequelae that worsen the quality of life of patients. Traditionally, the treatment of PIDs has been largely supportive, with the exception of bone marrow transplantation and, more recently, gene therapy. The discovering of new affected pathways, the development of new molecules and biologics, and the increasing understanding of the molecular basis of these disorders have created opportunities in PIDs therapy. This document aims to review current knowledge and to provide recommendations about the diagnosis and clinical management of adults and children with PIDs based on the available scientific evidence taking in to account current practice and future challenges. A systematic review was conducted, and evidence levels based on the available literature are given for each recommendation where available.

2.
J Allergy Clin Immunol Pract ; 8(10): 3342-3347, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33161963

RESUMO

Primary immunodeficiencies (PIDs) are rare, undiagnosed and potentially fatal diseases. Clinical manifestations of PID can be fatal or leave sequelae that worsen the quality of life of patients. Traditionally, the treatment of PIDs has been largely supportive, with the exception of bone marrow transplantation and, more recently, gene therapy. The discovering of new affected pathways, the development of new molecules and biologics, and the increasing understanding of the molecular basis of these disorders have created opportunities in PIDs therapy. This document aims to review current knowledge and to provide recommendations about the diagnosis and clinical management of adults and children with PIDs based on the available scientific evidence taking in to account current practice and future challenges. A systematic review was conducted, and evidence levels based on the available literature are given for each recommendation where available.

3.
Artigo em Inglês | IBECS-Express | IBECS | ID: ibc-ET6-1463

RESUMO

Primary immunodeficiencies (PIDs) are rare, undiagnosed and potentially fatal diseases. Clinical manifestations of PID can be fatal or leave sequelae that worsen the quality of life of patients. Traditionally, the treatment of PIDs has been largely supportive, with the exception of bone marrow transplantation and, more recently, gene therapy. The discovering of new affected pathways, the development of new molecules and biologics, and the increasing understanding of the molecular basis of these disorders have created opportunities in PIDs therapy. This document aims to review current knowledge and to provide recommendations about the diagnosis and clinical management of adults and children with PIDs based on the available scientific evidence taking in to account current practice and future challenges. A systematic review was conducted, and evidence levels based on the available literature are given for each recommendation where available


Las inmunodeficiencias primarias (IDP) son unas enfermedades raras, frecuentemente infradiagnosticadas y potencialmente fatales. Las manifestaciones clínicas de las IDP pueden ser muy graves y ocasionar secuelas que empeoran la calidad de vida de los pacientes. Tradicionalmente, el tratamiento de las IDP ha sido fundamentalmente de soporte, con excepción del trasplante de progenitores hematopoyéticos y, más recientemente, la terapia génica. El descubrimiento de nuevos mecanismos patogénicos, el desarrollo de nuevas moléculas y fármacos biológicos y los avances en el conocimiento de las bases moleculares de estas enfermedades han abierto oportunidades para el tratamiento de esta afección. El objetivo de este documento es revisar el conocimiento actual y aportar recomendaciones para el diagnóstico y el tratamiento clínico de los pacientes adultos y pediátricos con IDP basado en la evidencia científica disponible y teniendo en cuenta la actual práctica y los retos futuros. Se realizó una revisión sistemática, que justifica los niveles de evidencia para cada recomendación

4.
Rev. argent. coloproctología ; 31(2): 63-69, jun. 2020. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1117012

RESUMO

Introducción: La introducción del sistema Da Vinci, ha revolucionado el campo de la cirugía mínima invasiva en el cual el cirujano tiene control de la cámara 3D y los instrumentos son de gran destreza y confort ergonómico, acortando la curva de aprendizaje quirúrgica. Objetivo: Describir nuestra experiencia inicial de cirugía robótica colorectal en un hospital de comunidad cerrada de la Ciudad Autónoma de Buenos Aires. Materiales y Método: Estudio retrospectivo descriptivo sobre una base prospectiva de cirugías colorectales robóticas realizadas por el mismo equipo quirúrgico desde mayo de 2016 a abril de 2019. Resultados: Se operaron 41 pacientes. Trece de ellos fueron colectomías derechas, 17 colectomías izquierdas y 11 cirugías de recto. El tiempo quirúrgico promedio fue de 170 minutos (90-330), la estadía hospitalaria de 4 días (3-30), la tasa de conversión de 7,31% (3/41 pacientes) y la tasa de dehiscencia anastomótica del 9,75% (4/41 pacientes). Morbilidad global del 19.5% (8/41 pacientes). Conclusión: Hemos repasado los resultados iniciales de nuestra experiencia en cirugía robótica colorectal en un número reducido de casos, pero suficiente para evaluar la seguridad y reproducibilidad del método al comienzo de una curva de aprendizaje.


Introduction: The introduction of the Da Vinci System, has revolved the field of invasive minimal surgery in which the surgeon has control of the 3d camera and the instruments are of great strength and ergonomic comfort by cutting the surgical learning curve. Objective: Of this preliminary presentation is to describe our initial experience of colorectal robotic surgery in a closed community hospital of the Autonomous City of Buenos Aires. Materials and Method: Retrospective descriptive study on a prospective basis of robotic colorectal surgeries performed by the same surgical team from May 2016 to April 2019.Results: 41 patients were operated. 13 of them were right colectomies, 17 left colectomies and 11 rectum surgeries. The average surgical time was 170 minutes (90-330), the average hospital stay of 4 days (3-30), the conversion rate of 7.31% (3/41 patients) and the anastomotic dehiscence rate of 9 , 75% (4/41 patients). Overall morbidity of 19.5% (8/41 patients).Conclusion: We have reviewed the initial results of our experience in colorectal robotic surgery in a reduced number of cases but sufficient to evaluate the security and reproducibility of the methodic learning of a learning curve.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Neoplasias Colorretais/cirurgia , Cirurgia Colorretal/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Reto/cirurgia , Estudos Retrospectivos , Colectomia/métodos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Protectomia/métodos , Hospitais Comunitários
5.
Transplant Proc ; 52(5): 1453-1454, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32241636

RESUMO

BACKGROUND: Hepatic epithelioid hemangioendothelioma (HEHE) is a rare neoplasm of vascular origin, with nonspecific presentation and unpredictable clinical course. Several therapeutic options are available according to the literature, including chemotherapy and radiotherapy, liver resection (LR), and liver transplantation (LT). METHODS: We present 2 cases of patients with HEHE treated with liver transplantation in our center, a 30-year-old man and a 42-year-old woman, diagnosed with several lesions involving both liver lobes. RESULTS: Levels of tumor markers (carcinoembryonic antigen [CEA], cancer antigen 19.9 [Ca19.9], and alpha-fetoprotein [AFP]) were negative. Percutaneous biopsy revealed HEHE in both cases. Due to the bilobar location, liver transplantation was performed. Postoperative course was unremarkable, and no significant complications developed. At this time, 10 and 5 years' follow-up has concluded, respectively. Both patients remain alive, asymptomatic, with normal liver function and no sign of recurrence. CONCLUSIONS: HEHE is an uncommon malignant hepatic disease. Most cases present with bilobar involvement, and LT is probably the most useful treatment with favorable outcomes according to the literature and our experience. Further studies are needed to establish the optimal management of this rare entity.


Assuntos
Hemangioendotelioma Epitelioide/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Adulto , Feminino , Humanos , Masculino , Resultado do Tratamento
6.
Rev. argent. coloproctología ; 30(4): 104-113, dic. 2019. ilus, tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1096799

RESUMO

Introducción: Los pacientes que se presentan con cuadros de peritonitis de origen diverticular (estadios Hinchey III o IV) en un contexto de sepsis severa con inestabilidad hemodinámica (shock séptico) la realización de anastomosis primaria presenta una alta tasa de dehiscencia anastomótica y mortalidad operatoria, aconsejándose la realización de una resección y abocamiento a la manera de Hartmann. Sin embargo, la alta tasa de complicaciones relacionadas a la confección del ostoma, la complejidad de la cirugía de restauración del tránsito intestinal, asociado a que entre el 40 % y el 60 % de los Hartmann no se reconstruyen, ha estimulado a que se intenten otras variables de resolución para esta compleja y grave patología. Diversas publicaciones en los últimos años han propuesto la táctica de "cirugía del control del daño" con el objeto de disminuir la morbimortalidad de estos gravísimos cuadros sépticos y a su vez reducir la tasa de ostomías. El objetivo de este trabajo es presentar nuestra experiencia inicial con esta modalidad de manejo de la peritonitis diverticular Hinchey III/IV sepsis severa e inestabilidad hemodinámica (shock séptico) y realizar una revisión bibliográfica del tema. Material y método: Estudio observacional, descriptivo, de series de casos. Entre noviembre de 2015 y diciembre de 2016. Servicio de coloproctología del complejo médico hospitalario Churruca-Visca de la ciudad de Buenos Aires y práctica privada de los autores. Se utilizó la técnica de laparotomía abreviada y cierre temporal del abdomen mediante un sistema de presión negativa. Resultados: En el periodo descripto se operaron 17 pacientes con peritonitis generalizada purulenta o fecal de origen diverticular. Catorce casos fueron Hinchey III (82,36%) y 3 casos Hinchey IV (17,64%). En 3 casos se observó inestabilidad hemodinámica en el preoperatorio o intraoperatorio. Todos ellos correspondientes al estadio IV de Hinchey. Se describen los 3 casos tratados mediante esta táctica quirúrgica. Discusión: La alta tasa de morbimortalidad de este subgrupo de pacientes incentivó a diversos grupos quirúrgicos a implementar la técnica de control del daño, permitiendo de esta manera estabilizar a los pacientes hemodinámicamente y en un segundo tiempo evaluar la reconstrucción del tránsito intestinal. En concordancia con estas publicaciones, dos de nuestros pacientes operados con esta estrategia, pudieron ser anastomosados luego del segundo lavado abdominal. Conclusión: En pacientes con peritonitis diverticular severa asociado a shock séptico el concepto de laparotomía abreviada con control inicial del foco séptico, cierre temporal del abdomen con sistema de presión negativa y posterior evaluación de la reconstrucción del tránsito intestinal, es muy alentador. Permitiendo una disminución de la morbimortalidad como así también del número de ostomías. (AU)


Introduction: Patients presenting with diverticular peritonitis (Hinchey III or IV stages) in a context of severe sepsis with hemodynamic instability (septic shock), performing primary anastomosis has a high rate of dehiscence anastomotic and operative mortality, advising the realization of a resection and ostoma in the manner of Hartmann. However, the high rate of complications related to performing of ostoma, the complexity of intestinal transit restoration surgery, associated with the 40% to 60% of Hartmann reversal not performed, has encouraged other variables to be attempted resolution for this complex and serious pathology. Several publications in recent years have proposed the tactic of "damage control surgery" in order to reduce the morbidity of these serious septic charts while reducing the rate of ostomies. The objective of this study is to present our initial experience with this modality of management of the diverticular peritonitis Hinchey III/IV severe sepsis and hemodynamic instability (septic shock) and to carry out a bibliographic review of the subject. Material and method: Observational, descriptive study of case series. Between November 2015 and December 2016. Coloproctology service of the Churruca-Visca hospital medical complex in the city of Buenos Aires and private practice of the authors. The technique of abbreviated laparotomy and temporary closure of the abdomen was used by a negative pressure system. Results: In the period described, 17 patients with generalized purulent or fecal peritonitis of diverticular origin were operated. Fourteen cases were Hinchey III (82.36%) and 3 cases Hinchey IV (17.64%).In 3 cases, hemodynamic instability was observed in the preoperative or intraoperative period. all of them corresponding to Hinchey's Stage IV. The 3 cases treated using this surgical tactic are described. Discussion: The high morbidity rate of this subgroup of patients encouraged various surgical groups to implement the damage control technique, thus allowing patients to stabilize hemodynamically and in a second time evaluate reconstruction intestinal transit. In line with these publications, two of our patients operated on with this strategy could be anastomosated after the second abdominal wash. Conclusion: In patients with severe diverticular peritonitis associated with septic shock, the concept of abbreviated laparotomy with initial control of the septic focus, temporary closure of the abdomen with negative pressure system and subsequent evaluation of transit reconstruction intestinal, it's encouraging. Allowing a decrease in morbidity as well as the number of ostomies. (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Peritonite/cirurgia , Choque Séptico , Doença Diverticular do Colo/cirurgia , Tratamento de Ferimentos com Pressão Negativa , Laparotomia/métodos , Peritonite/etiologia , Reoperação , Lavagem Peritoneal , Colostomia/métodos , Colostomia/mortalidade , Doença Aguda , Epidemiologia Descritiva , Sepse , Doença Diverticular do Colo/complicações , Técnicas de Fechamento de Ferimentos Abdominais , Laparotomia/mortalidade
7.
Front Immunol ; 10: 2589, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31781101

RESUMO

Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report describes a child of non-consanguineous parents who presented with chronic digital vasculitis early in life, is of short stature, has facial dysmorphia, immunodeficiency (low serum IgA, high serum IgM), recurrent bacterial infections, lymphoproliferation, absence of detectable serum C1q, and low classical complement pathway activity. We identified a previously reported de novo heterozygous pathogenic splice mutation in PIK3R1 (c.1425 + 1G > A), resulting in the skipping of exon 11 of the p85α subunit of phosphatidylinositol 3-kinase and causing activated PI3Kδ syndrome type II (APDS2). This explained the phenotype, with the exception of digital vasculitis and C1q deficiency, which have never been described in association with APDS2. No mutations were identified in C1QA, B, or C, their promoter regions, or in any other complement component. Functional studies indicated normal monocytic C1q production and release, suggesting that the observed C1q deficiency was caused by peripheral consumption of C1q. Since C1q deficiency has never been associated with APDS2, we assessed C1q levels in two unrelated patients with genetically confirmed APDS2 and confirmed C1q deficiency in those two cases as well. This observation suggests C1q deficiency to be an inherent but previously unrecognized feature of APDS2. We speculate that the consumption of C1q is driven by increased apoptotic bodies derived from immune cellular senescence, combined with elevated IgM production (both inherent features of APDS2). Secondary C1q deficiency in APDS2 may further contribute to immunodeficiency and could also be associated with inflammatory immune dysregulatory phenotypes, such as the digital vasculitis observed in our case.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Complemento C1q/deficiência , Doenças da Imunodeficiência Primária/etiologia , Doenças da Imunodeficiência Primária/metabolismo , Adolescente , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Imunofenotipagem , Fenótipo , Doenças da Imunodeficiência Primária/diagnóstico , Sequenciamento Completo do Genoma
8.
Biomark Med ; 13(12): 995-1004, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31317790

RESUMO

Aim: To determine whether TLR9 polymorphisms are associated with tumor recurrence after liver transplantation for hepatocellular carcinoma (HCC). Patients & methods: All patients who underwent liver transplantation, and had viable HCC in the explanted liver were included. TLR9-1237C/T and -1486C/T polymorphisms were analyzed by real-time PCR and melting curves analysis. Results: 20 of 159 patients (12.6%) developed post-transplant HCC recurrence. Tumors exceeding Milan criteria, moderately-to-poorly differentiated tumors and microvascular invasion on explants, and pretransplant α-fetoprotein level (all p < 0.01) were associated with an increased risk, while TLR9-1486TT genotype was associated with a decreased risk of HCC recurrence (p = 0.03). Conclusion: TLR9-1486C/T might help to preoperatively identify patients at low risk of post-transplant HCC recurrence.


Assuntos
Carcinoma Hepatocelular/genética , Neoplasias Hepáticas/genética , Recidiva Local de Neoplasia/genética , Receptor Toll-Like 9/genética , Adulto , Idoso , Carcinoma Hepatocelular/metabolismo , Carcinoma Hepatocelular/cirurgia , Feminino , Humanos , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/metabolismo , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , alfa-Fetoproteínas/metabolismo
9.
World J Hepatol ; 11(1): 50-64, 2019 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-30705718

RESUMO

Liver transplantation (LT) is the only potentially curative treatment for selected patients with cirrhosis and hepatocellular carcinoma (HCC) who are not candidates for resection. When the Milan criteria are strictly applied, 75% to 85%of 3- to 4-year actuarial survival rates are achieved, but up to 20% of the patients experience HCC recurrence after transplantation. The Milan criteria are based on the preoperative tumor macromorphology, tumor size and number on computed tomography or magnetic resonance imaging that neither correlate well with posttransplant histological study of the liver explant nor accurately predict HCC recurrence after LT, since they do not include objective measures of tumor biology. Preoperative biological markers, including alpha-fetoprotein, des-gamma-carboxiprothrombin or neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio, can predict the risk for HCC recurrence after transplantation. These biomarkers have been proposed as surrogate markers of tumor differentiation and vascular invasion, with varied risk magnitudes depending on the defined cutoffs. Different studies have shown that the combination of one or several biomarkers integrated into prognostic models predict the risk of HCC recurrence after LT more accurately than Milan criteria alone. In this review, we focus on the potential utility of these serum biological markers to improve the performance of Milan criteria to identify patients at high risk of tumoral recurrence after LT.

10.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 37(2): 112-116, feb. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-181151

RESUMO

Introduction: Development of secondary haemophagocytic lymphohistiocytosis (sHLH) in the context of typhoid fever (TF) is a very rare but serious complication. Methods: Description of the first pediatric case of typhoid fever acquired in a non-endemic area complicated by sHLH. A systematic literature review of sHLH in the context of TF was performed with extraction of epidemiological, clinical and laboratory data. Results: The literature search revealed 17 articles (22 patients). Fifteen patients were eligible for data analysis (53.4% children). All patients had fever and pancytopenia. Transaminases and LDH were frequently elevated (46.6%). Salmonella typhi was detected mainly by blood culture (64.3%). All the patients received antibiotics whereas immunomodulation (dexamethasone) was used in two cases. Conclusions: A high suspicion index for this condition is needed even in non-endemic areas. The addition of immunmodulation to standard antimicrobial therapy should be considered in selected cases


Introducción: El síndrome hemofagocítico (HLH) secundario en el contexto de fiebre tifoidea es una complicación rara pero seria. Métodos: Descripción del primer caso pediátrico de fiebre tifoidea adquirida en área no endémica complicada con síndrome hemofagocítico y revisión sistemática de la literatura de casos de HLH secundarios a fiebre tifoidea. Descripción de datos epidemiológicos, clínicos y de laboratorio, diagnóstico y manejo. Resultados: La búsqueda bibliográfica reveló 17 artículos (22 pacientes). Quince pacientes eran elegibles para el análisis (53,4% niños). La fiebre y la pancitopenia estaban siempre presentes, y las transaminasas y la LDH estaban frecuentemente elevados (46,6%). La detección de S. typhi se realizó mediante hemocultivo, principalmente (64,3%). Todos los pacientes reportados recibieron antibióticos; la dexametasona fue usada como tratamiento inmunomodulador en 2 de los casos. Conclusiones: Mantener alto el grado de sospecha de esta condición es necesario, incluso en áreas no endémicas, ya que el uso de tratamiento inmunomodulador junto al tratamiento antimicrobiano puede ser determinante para una evolución clínica favorable


Assuntos
Humanos , Masculino , Criança , Adolescente , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/epidemiologia , Febre Tifoide/complicações , Febre Tifoide/epidemiologia , Dor Abdominal/etiologia , Distribuição por Idade , Ásia/epidemiologia , Ceftriaxona/uso terapêutico , Países Desenvolvidos , Diagnóstico Diferencial , Doenças Endêmicas , Febre/etiologia , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Metilprednisolona/uso terapêutico
11.
Enferm Infecc Microbiol Clin ; 37(2): 112-116, 2019 02.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29887216

RESUMO

INTRODUCTION: Development of secondary haemophagocytic lymphohistiocytosis (sHLH) in the context of typhoid fever (TF) is a very rare but serious complication. METHODS: Description of the first pediatric case of typhoid fever acquired in a non-endemic area complicated by sHLH. A systematic literature review of sHLH in the context of TF was performed with extraction of epidemiological, clinical and laboratory data. RESULTS: The literature search revealed 17 articles (22 patients). Fifteen patients were eligible for data analysis (53.4% children). All patients had fever and pancytopenia. Transaminases and LDH were frequently elevated (46.6%). Salmonella typhi was detected mainly by blood culture (64.3%). All the patients received antibiotics whereas immunomodulation (dexamethasone) was used in two cases. CONCLUSIONS: A high suspicion index for this condition is needed even in non-endemic areas. The addition of immunmodulation to standard antimicrobial therapy should be considered in selected cases.


Assuntos
Linfo-Histiocitose Hemofagocítica/etiologia , Febre Tifoide/complicações , Abscesso Abdominal/diagnóstico , Dor Abdominal/etiologia , Distribuição por Idade , Apendicite/diagnóstico , Ásia/epidemiologia , Ceftriaxona/uso terapêutico , Criança , Países Desenvolvidos , Diagnóstico Diferencial , Doenças Endêmicas , Febre/etiologia , Hepatomegalia/etiologia , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Linfo-Histiocitose Hemofagocítica/epidemiologia , Masculino , Metilprednisolona/uso terapêutico , Oriente Médio/epidemiologia , Distribuição por Sexo , Espanha/epidemiologia , Esplenomegalia/etiologia , Febre Tifoide/diagnóstico , Febre Tifoide/tratamento farmacológico , Febre Tifoide/epidemiologia
12.
J Allergy Clin Immunol ; 142(6): 1932-1946, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29729943

RESUMO

BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers. RESULTS: We identified 133 subjects from 54 unrelated families carrying 45 different heterozygous CTLA4 mutations, including 28 previously undescribed mutations. Ninety mutation carriers were considered affected, suggesting a clinical penetrance of at least 67%; median age of onset was 11 years, and the mortality rate within affected mutation carriers was 16% (n = 15). Main clinical manifestations included hypogammaglobulinemia (84%), lymphoproliferation (73%), autoimmune cytopenia (62%), and respiratory (68%), gastrointestinal (59%), or neurological features (29%). Eight affected mutation carriers had lymphoma, and 3 had gastric cancer. An EBV association was found in 6 patients with malignancies. CTLA4 mutations were associated with lymphopenia and decreased T-, B-, and natural killer (NK) cell counts. Successful targeted therapies included application of CTLA-4 fusion proteins, mechanistic target of rapamycin inhibitors, and hematopoietic stem cell transplantation. EBV reactivation occurred in 2 affected mutation carriers after immunosuppression. CONCLUSIONS: Affected mutation carriers with CTLA-4 insufficiency can present in any medical specialty. Family members should be counseled because disease manifestation can occur as late as 50 years of age. EBV- and cytomegalovirus-associated complications must be closely monitored. Treatment interventions should be coordinated in clinical trials.


Assuntos
Antígeno CTLA-4/genética , Síndromes de Imunodeficiência/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico por imagem , Síndromes de Imunodeficiência/terapia , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Adulto Jovem
13.
Rev. argent. coloproctología ; 28(2): 140-145, Dic. 2017. tab
Artigo em Espanhol | LILACS | ID: biblio-1008569

RESUMO

Introducción: La importancia del tratamiento neoadyuvante con quimio y radioterapia en el manejo de los tumores de recto extraperitoneal localmente avanzado ha quedado claramente demostrada. La droga que ha sido históricamente más utilizada para este fin fue el 5-Fluorouracilo (5-FU). Una nueva molécula de administración por vía oral, la prodroga capecitabine, ha reemplazado al 5-FU en el tratamiento neoadyuvante en los últimos tiempos, con mejores resultados y mayor comodidad. Objetivo: Valorar la eficacia, toxicidad y complicaciones del tratamiento neoadyuvante con capecitabine más radioterapia en el tratamiento del cáncer de recto extraperitoneal localmente avanzado. Diseño: Estudio observacional, descriptivo, retrospectivo. Población y Métodos: Se incluyeron 33 pacientes (66% de sexo masculino) con tumores de recto extraperitoneal localmente avanzado (cT3/cT4 o cN+) con indicación de neoadyuvancia. La dosis de radioterapia fue de 45 Gy más un boost de 5,04 Gy administradas en 25 sesiones durante un período de 5 semanas. La dosis de capecitabine fue de 850 mg/m2, dos veces al día durante los días en que se administraba la radioterapia. Se reevaluó a los pacientes entre la 8º y 10º semana. Aquellos pacientes con respuesta clínica completa (RCC) se les ofreció ingresar al protocolo de Watch & Wait, mientras que aquellos pacientes con respuesta clínica incompleta o nula se les indicó la resección quirúrgica entre las 10-12 semanas posttratamiento neoadyuvante. Resultados: 10 pacientes (30,3%) tuvieron respuesta clínica completa (RCC). De estos, 7 entraron a protocolo Watch & Wait. Se operaron 26 pacientes, luego de un promedio de 11,71 semanas posteriores a la neoadyuvancia, siguiendo en todos los casos la técnica de excisión total del mesorrecto. Se observó un 19,3% de RPC y un downstaging del 57,69%. A dieciséis pacientes (61,53%) se les efectuó una resección anterior ultrabaja con ostomía de protección. Nueve pacientes fueron sometidos a una amputación abdominoperineal (34,61%) y una paciente recibió una operación de Hartmann (3,84%). El principal efecto adverso fue la diarrea grado I en el 36% de los casos, seguida por la dermatitis grado I en el 33%. Tuvimos dos dehiscencias anastomóticas que se resolvieron sin reintervención. Conclusiones: El tratamiento neoadyuvante con capecitabine es una opción segura, con alta tasa de respuesta clínica y patológica completa, con escasa toxicidad y complicaciones, y el beneficio de la comodidad de su administración por vía oral. (AU)


Background: The importance of neoadjuvant chemotherapy and radiation therapy in the management of extraperitoneal rectal tumors locally advanced has been clearly demonstrated. The drug has been historically used for this purpose was 5-fluorouracil (5-FU). A new molecule oral administration, the prodrug capecitabine, has replaced the 5-FU in the neoadjuvant treatment in recent times, with better results and greater comfort. Objective: To evaluate the efficacy, toxicity and complications of neoadjuvant capecitabine plus radiation therapy in the treatment of locally advanced rectal cancer extraperitoneal. Design: Observational, descriptive, retrospective study. Population and Methods: 33 patients (66% male) with extraperitoneal rectal tumors locally advanced (cT3 / cT4 or cN +) with indication of neoadjuvant were included. Radiation dose was 45 Gy plus a boost of 5.04 Gy administered in 25 sessions over a period of 5 weeks. Capecitabine dose was 850 mg / m2 twice daily on days that radiotherapy was administered. It was reevaluated patients between the 8th and 10th week. Patients with clinical complete response (CCR) were offered to enter the protocol Watch & Wait, while patients with incomplete or no clinical response were instructed surgical resection neoadjuvant between 10-12 weeks post-treatment. Results: 10 patients (30.3%) had clinical complete response (CCR). Of these, seven entered Watch & Wait protocol. 26 patients were operated after a mean time of 11,71 weeks (range 10-15), in all cases following the total mesorectal excision technique. 19.3% of RPC and downstaging of 57.69% was observed. Sixteen patients (61.53%) were made ultra-low anterior resection with protective stoma. Nine patients underwent an AP amputation (34.61%) and one patient received a Hartmann operation(3.84%). The main side effect was diarrhea grade I in 36% of cases, followed by the degree I dermatitis in 33%. We had two anastomotic dehiscences which resolved without reoperation. Conclusions: Neoadjuvant capecitabine therapy is a safe choice, with high rate of complete clinical and pathological response with low toxicity and complications, and the benefit from the comfort of oral administration. (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Radioterapia/métodos , Neoplasias Retais/tratamento farmacológico , Neoplasias Retais/radioterapia , Capecitabina/administração & dosagem , Capecitabina/uso terapêutico , Neoplasias Retais/cirurgia , Estudos Retrospectivos , Terapia Neoadjuvante , Conduta Expectante
14.
Mol Nutr Food Res ; 61(8)2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28198144

RESUMO

SCOPE: Systemic lupus erythematosus (SLE) is a chronic multiorgan autoimmune disease characterized by immune deregulation, which involves altered T-cell response and imbalance of cytokine production. The phenolic fraction (PE) of extra virgin olive oil (EVOO) possesses anti-inflammatory and immunomodulatory properties and exerts preventive effects in murine models of immune-inflammatory diseases, such as SLE. The present study was designed to determine the in vitro effects of the PE from EVOO on peripheral blood mononuclear cells (PBMC) from inactive patients with SLE and healthy donors. METHODS AND RESULTS: T-cell phenotype was investigated by flow cytometry, cytokine levels were determined by ELISA, and protein expression was detected by Western blot. The PE of EVOO decreased the frequency of CD69+ cells and the secretion of IFN-γ, TNF-α, IL-6, IL-1ß, and IL-10. Moreover, PE increased the expression of I-kappa-B-α and decreased extracellular signal regulated kinase phosphorylation on PBMC from patients with SLE and healthy donors. CONCLUSION: PE modulates cytokine production and attenuates induced T-cell activation, probably through NF-κB signaling pathway, providing the first evidence that PE from EVOO has an anti-inflammatory and immunomodulatory role in SLE patients and it might therefore be considered as a dietary complement in SLE management.


Assuntos
Lúpus Eritematoso Sistêmico/dietoterapia , Azeite de Oliva/química , Fenóis/farmacologia , Linfócitos T/efeitos dos fármacos , Adulto , Apoptose/efeitos dos fármacos , Estudos de Casos e Controles , Citocinas/metabolismo , Humanos , Leucócitos Mononucleares/efeitos dos fármacos , Pessoa de Meia-Idade , NF-kappa B/metabolismo , Fenóis/química , Linfócitos T/fisiologia
15.
Pediatr Allergy Immunol ; 27(6): 640-4, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27116393

RESUMO

BACKGROUND: Autosomal dominant gain-of-function mutations in PIK3R1 encoding for the regulatory subunit (p85α, p55α, and p50α) of Class IA phosphoinositide 3-kinase (PI3K) result in the activated PI3Kδ syndrome (APDS) type 2 characterized by childhood-onset combined immunodeficiency, lymphoproliferation, and immune dysregulation. To improve clinical awareness and understanding of these rare diseases, we reviewed all hitherto published cases with APDS type 1 and type 2 for their clinical and immunologic symptoms and added novel clinical, immunologic, and genetic findings of two patients with APDS type 2. METHODS: Clinical, immunologic, and genetic evaluation of two new patients with APDS2 was performed followed by the systematic collection of all available previously published data of patients with APDS1 and APDS2. RESULTS: Patients with APDS type 1 (n = 49) and type 2 (n = 15) showed an indistinguishable immunologic phenotype. Overlapping clinical features shared by APDS type 1 and type 2 were observed, but our review also revealed previously unnoticed clinical differences such as remarkably high incidence of microcephaly, poor growth/short stature in patients with APDS2. Clinical management and outcome were variable and included prophylactic antibiotics, immunosuppression, immunoglobulin substitution, and hematopoietic stem cell transplantation. CONCLUSIONS: A disease-specific registry collecting prospective and long-term follow-up data of patients with APDS, as currently set up by the European Society for Immunodeficiencies, are needed to better understand the natural history and to optimize treatment concepts and thereby improving the outcome of this heterogenous patient group.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/genética , Microcefalia , Mutação/genética , Antibioticoprofilaxia , Pré-Escolar , Feminino , Genótipo , Crescimento e Desenvolvimento , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressão , Masculino , Linhagem , Fenótipo , Doenças da Imunodeficiência Primária , Análise de Sequência de DNA
16.
Rev. bras. cir. plást ; 30(3): 439-445, 2015. ilus
Artigo em Inglês, Português | LILACS | ID: biblio-1153

RESUMO

INTRODUÇÃO: Orelha proeminente, popularmente conhecida como orelha em abano, é uma afecção muito frequente em nosso meio. Constitui a deformidade mais comum da cabeça e pescoço, prevalecendo em aproximadamente 5% da população em geral. O trabalho tem como objetivo demonstrar que, com a junção de técnicas cirúrgicas simples, é possível corrigir as deformidades e obter um ótimo índice de satisfação dos pacientes. MÉTODO: Um total de 60 pacientes de ambos os sexos, entre 11 e 40 anos foram submetidos à otoplastia bilateral entre fevereiro de 2009 e dezembro de 2010. RESULTADOS: Em todos os casos se realizou otoplastia bilateral. Não houve casos de hematomas, infecção de sítio cirúrgico ou cicatriz hipertrófica. Cicatrizes visíveis ou granulomas de corpo estranho na face posterior da orelha foram constatados em 5 casos (8,3%). Houve 1 caso de condrite. O índice de deformidade residual com 1 ano de pós-operatório ocorreu em 3 casos, sendo todos bilaterais. Recidiva total foi presenciada em 1 caso (1,7%). Após um ano da cirurgia, 56 pacientes (93,3%) consideraram o resultado como bom e estavam satisfeitos, 3 pacientes sofreram reintervenção por deformidade residual e em 1 caso ocorreu a recidiva total, em que o mesmo não desejou correção. CONCLUSÃO: O presente estudo vem demonstrar que a associação das técnicas de Mustardè com a de Furnas traz alto grau de satisfação, baixo índice de complicações, podendo ser realizada com tranquilidade em nível ambulatorial e com baixo custo.


INTRODUCTION: Prominent ears, popularly known as bat ears, are the most common deformity of the head and neck, occurring in approximately 5% of the general population. This study aims to demonstrate that, with the use of simple surgical techniques, it is possible to correct the deformity and achieve optimal patient satisfaction. METHOD: A total of 60 patients of both sexes, aged between 11 and 40 years, underwent bilateral otoplasty between February 2009 and December 2010. RESULTS: In all cases, bilateral otoplasty was performed. There were no cases of hematomas, surgical site infection, or hypertrophic scars. In 5 cases (8.3%) visible scars or foreign body granulomas were found in the posterior surface of the ear. Chondritis occurred in one patient. Bilateral residual deformity occurred in 3 cases at 1 year post-surgery. Total recurrence was observed in 1 case (1.7%). After one year of surgery, 56 patients (93.3%) considered the result as good and were satisfied, 3 patients underwent reintervention for residual deformity, and total recurrence occurred in 1 case, which the patient did not wish to correct. CONCLUSION: The present study demonstrates that concurrent use of the Mustardé and Furnas otoplasty techniques results in a high degree of satisfaction and a low rate of complications. The procedure can easily be performed at the outpatient level and at a low cost.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , História do Século XXI , Recidiva , Procedimentos Cirúrgicos Otológicos , Estudo Comparativo , Estudo de Avaliação , Orelha , Deformidades Adquiridas da Orelha , Procedimentos Cirúrgicos Otológicos/métodos , Orelha/cirurgia , Deformidades Adquiridas da Orelha/cirurgia
17.
Rio de Janeiro; s.n; 2012. 82 p. tab, graf.
Tese em Português | LILACS | ID: lil-655635

RESUMO

Processo de transição epidemiológica e nutricional, com importantes modificações nos padrões de morbi-mortalidade. Estas transformações são verificadas também entre os povos indígenas brasileiros. A OMS aponta a inatividade física como um dos principais fatores de risco responsáveis por tais modificações no perfil de saúde da população mundial. Estudar o padrão de atividade física e seus fatores de risco é de fundamental importância para compreendermos estas transformações na saúde dos indígenas brasileiros. O objetivo deste estudo é caracterizar os padrões de atividade física e sua associação com variáveis sociodemográficas, nutricionais e tabagismo em indivíduos maiores de 18 anos de ambos os sexos em duas aldeias indígenas Xavante do Brasil Central. Trata-se de um estudo de corte transversal, sendo realizadas duas coletas em momentos diferentes. O questionário IPAQ foi o instrumento utilizado para coleta de dados referentes ao padrão de atividade física. Além disso, foram coletados dados referentes ao estado nutricional por meio do IMC e porcentagem de gordura corporal por meio de bioimpedância, sexo, idade, aldeia, renda domiciliar, escolaridade e tabagismo. Primeiramente, foi realizado o teste de confiabilidade do IPAQ, por meio do teste Kappa. A coleta referente ao mês de fevereiro de 2011 foi escolhida para dar continuidade às análises. Na primeira etapa foram descritas as prevalências de inatividade física segundo o sexo do participante. Para avaliar se as diferenças observadas nas prevalências foram estatisticamente significativas foi aplicado o teste Qui-Quadrado (x2) de Pearson considerando o nível de significância de 5,0 por cento. Além disso, foram calculadas as razões de prevalência brutas, com seus respectivos intervalos com 95,0 por cento de confiança para cada uma das características estudadas por meio da regressão de Poisson com variância robusta. O resultado do teste Kappa demonstrou uma confiabilidade razoável para o IPAQ. A intensidade de atividade física que mais contribui para o perfil físico das mulheres foi a moderada. Já para os homens, foram as atividades vigorosas. A prevalência de inatividade física foi de 18,7 por cento, sendo maiorentre os homens (23,1 por cento) em comparação às mulheres (14,2 por cento). Embora as análises bivariadas não tenham apresentado associações estatisticamente significantes entre inatividade física e as demais variáveis, foram encontrados padrões interessantes, como no caso da idade, em que foi verificada maior prevalência de inatividade nos grupos etários mais velhos. De uma maneira geral, a prevalência de inatividade física foi similar ao encontrado em outras populações mundiais, inclusive entre o povo indígena Terena, que apresentou prevalência de 15,1 por cento. Com relação ao padrão de atividade física segundo sexo, os Xavante apresentaram comportamento diferente ao encontrado em outros estudos em populações indígenas ao redor do mundo, com as mulheres mais inativas fisicamente em comparação aos homens. A presente pesquisa fornece importantes resultados para o entendimento do perfil de saúde desse povo, ajudando a compreender processo de transição nutricional / mudanças socioculturais, econômicas e ambientais e assim, contribuir para a construção e planejamento de políticas de saúde públicas mais adequadas à realidade deste povo.


Assuntos
Humanos , Exercício Físico , Índios Sul-Americanos , Estado Nutricional , Tabagismo/epidemiologia , Brasil , Grupos Populacionais , Atividade Motora
20.
Rev. nutr ; 24(3): 395-405, maio-jun. 2011. graf, tab
Artigo em Português | LILACS | ID: lil-601088

RESUMO

OBJETIVO: Este trabalho tem como objetivo analisar o consumo alimentar de crianças em Gameleira, na Zona da Mata Meridional de Pernambuco, e em São João do Tigre, no Semi-Árido da Paraíba, municípios do Nordeste do Brasil. MÉTODOS: Trata-se de estudo transversal envolvendo crianças menores de dois anos, das quais 238 em Gameleira, e 207 em São João do Tigre. O consumo alimentar foi registrado utilizando o método recordatório de 24 horas. Os nutrientes foram analisados utilizando as Dietary Referency Intakes. RESULTADOS: O consumo médio de energia e da maioria dos nutrientes esteve acima das ingestões de referência, em todas as faixas etárias e em ambos os municípios. A maioria dos valores de prevalência de risco de inadequação dos nutrientes foram elevados, principalmente de ferro e zinco, nas crianças entre 7 e 11 meses. O município de São João do Tigre apresentou prevalência de risco, com inadequação em todas as faixas etárias e nutrientes analisados, com exceção da proteína e do ferro na faixa etária entre 12 e 23 meses, embora sem diferença estatisticamente significante. CONCLUSÃO: A situação nutricional da população estudada ainda preocupa devido às acentuadas prevalências de risco de inadequação dos nutrientes. Portanto, é necessária a elaboração de estratégias que reforcem e promovam a segurança alimentar e nutricional para essas populações, a fim de evitar o risco de instalação de distúrbios nutricionais.


OBJECTIVE: This study analyzes the food consumption of children from Gameleira, located in the Southern Forest Area of Pernambuco, and from São João do Tigre, located in the semiarid region of Paraíba, in the Brazilian Northeast. METHODS: This cross-sectional study included 238 children from Gameleira and 207 from São João do Tigre aged <2 years. Food consumption was investigated using a 24-hour dietary recall. Nutrient intake adequacy was classified according to the Dietary Reference Intakes. RESULTS: Mean intakes of energy and most nutrients were above the reference values for all ages in both cities. The prevalences of risk of inadequate nutrient intake were high for most nutrients, especially iron and zinc, in children aged 7 to 11 months. São João do Tigre presented higher said prevalences for most studied age groups and nutrients, except for protein and iron in children aged 12 to 23 months, although the difference was not statistically significant. CONCLUSION: The nutrition situation of this population is still of concern because of the high prevalence of risk of inadequate nutrient intake. Therefore, strategies that promote and ensure food and nutrition security are needed for these populations to prevent risk of nutrition disorders.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Deficiências Nutricionais/prevenção & controle , Educação Alimentar e Nutricional , Consumo de Alimentos , Nutrição do Lactente
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