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1.
J Allergy Clin Immunol ; 144(4): 897-905, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31419546

RESUMO

Severe combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy are the only curative treatments available, and the best-known prognostic factors for success are age at diagnosis, age at hematopoietic stem cell transplantation, and the comorbidities that develop in between. There are no evidence-based guidelines for standardized clinical care for patients with SCID during the time between diagnosis and definitive treatment, and we aim to generate a consensus management strategy on the supportive care of patients with SCID. First, we gathered available information about SCID diagnostic and therapeutic guidelines, then we developed a document including diagnostic and therapeutic interventions, and finally we submitted the interventions for expert consensus through a modified Delphi technique. Interventions are grouped in 10 topic domains, including 123 "agreed" and 38 "nonagreed" statements. This document intends to standardize supportive clinical care of patients with SCID from diagnosis to definitive treatment, reduce disease burden, and ultimately improve prognosis, particularly in countries where newborn screening for SCID is not universally available and delayed diagnosis is the rule. Our work intends to provide a tool not only for immunologists but also for primary care physicians and other specialists involved in the care of patients with SCID.

2.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(4): 223-231, abr. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-183172

RESUMO

Objetivo: Valorar el control del cLDL de pacientes con diabetes, medir la influencia en este control de la inercia con los hipolipidemiantes y explorar sus factores predictores. Métodos: Estudio de cohortes históricas de pacientes con diabetes. Se midió el porcentaje que alcanzó un cLDL dentro de objetivo. Se consideró inercia terapéutica cuando no se ajustó la dosis de los hipolipidemiantes, ni se cambió ni añadió ningún nuevo hipolipidemiante en los pacientes con cLDL inicial fuera de objetivo. Se estudiaron el cambio experimentado en el cLDL entre la primera y la última visita y la inercia con los hipolipidemiantes en función de las comorbilidades, factores de riesgo cardiovascular asociados y tratamientos utilizados. Resultados: Se incluyó a 639 pacientes (tiempo medio de seguimiento 11,1±11,2 meses). El 27,5% alcanzó un cLDL dentro de objetivo. Se produjo inercia en el 43,6% de los pacientes con un cLDL inicial fuera de objetivo. Resultaron predictores independientes de la inercia el cLDL inicial (p<0,001), la polineuropatía (p=0,014), el ajuste de los antihipertensivos (p=0,002), la adecuación de los hipolipidemiantes (p<0,001), el uso de ezetimiba (p=0,001) y la adherencia a los hipolipidemiantes (p=0,015). Conclusiones: La inercia en el tratamiento hipolipidemiante de un paciente con diabetes es menos frecuente ante valores iniciales de cLDL más altos, en los casos de polineuropatía, cuando se ajustan o cambian los antihipertensivos y cuando se detecta falta de adherencia. La prescripción inicial adecuada de estatinas y la asociación con ezetimiba disminuyen la probabilidad de caer en la inercia


Objective: To assess the control of cLDL in diabetic patients, to measure the impact on such control of inertia with lipid-lowering agents and to explore factors that allow for predicting this inertia. Methods: Study of historical cohorts of diabetic patients. The proportion of patients who achieved the target cLDL levels was estimated. Therapeutic inertia was considered when the dose of the lipid-lowering agents was not adjusted, or a lipid-lowering agent was not changed or added in patients with initial cLDL outside the target. Change in cLDL from the first to the last visit and inertia with lipid-lowering drugs were analyzed according to comorbidities, cardiovascular risk factors and treatments used. Results: The study simple consisted of 639 patients (mean follow-up time 11.1±11.2 months), of whom 27.5% achieved target cLDL levels. Inertia occurred in 43,6% of patients with initial cLDL outside the target. Independent predictors of inertia were the initial cLDL (P<0.001), polyneuropathy (P=0.014), adjustment of antihypertensive agents (P=0.002), adequacy of lipid-lowering agents (P<0.001), use of ezetimibe (P=0.001) and adherence to lipid-lowering drugs (P=0.015). Conclusions: Inertia with lipid-lowering agents in a diabetic patient is less frequent in the presence of higher cLDL values, in cases of polyneuropathy, when antihypertensive agents are adjusted or changed, and when non-adherence is detected. The adequate initial prescription of statins and the association with ezetimibe decrease the likelihood of committing inertia


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipolipemiantes/uso terapêutico , Diabetes Mellitus Tipo 2/sangue , LDL-Colesterol/sangue , LDL-Colesterol/efeitos dos fármacos , Estudos de Coortes , Seguimentos , Resultado do Tratamento
3.
Endocrinol Diabetes Nutr ; 66(4): 223-231, 2019 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30541682

RESUMO

OBJECTIVE: To assess the control of cLDL in diabetic patients, to measure the impact on such control of inertia with lipid-lowering agents and to explore factors that allow for predicting this inertia. METHODS: Study of historical cohorts of diabetic patients. The proportion of patients who achieved the target cLDL levels was estimated. Therapeutic inertia was considered when the dose of the lipid-lowering agents was not adjusted, or a lipid-lowering agent was not changed or added in patients with initial cLDL outside the target. Change in cLDL from the first to the last visit and inertia with lipid-lowering drugs were analyzed according to comorbidities, cardiovascular risk factors and treatments used. RESULTS: The study simple consisted of 639 patients (mean follow-up time 11.1±11.2 months), of whom 27.5% achieved target cLDL levels. Inertia occurred in 43,6% of patients with initial cLDL outside the target. Independent predictors of inertia were the initial cLDL (P<0.001), polyneuropathy (P=0.014), adjustment of antihypertensive agents (P=0.002), adequacy of lipid-lowering agents (P<0.001), use of ezetimibe (P=0.001) and adherence to lipid-lowering drugs (P=0.015). CONCLUSIONS: Inertia with lipid-lowering agents in a diabetic patient is less frequent in the presence of higher cLDL values, in cases of polyneuropathy, when antihypertensive agents are adjusted or changed, and when non-adherence is detected. The adequate initial prescription of statins and the association with ezetimibe decrease the likelihood of committing inertia.


Assuntos
LDL-Colesterol/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Dislipidemias/tratamento farmacológico , Hipolipemiantes/uso terapêutico , Adolescente , Adulto , Idoso , Anticolesterolemiantes/administração & dosagem , Anticolesterolemiantes/uso terapêutico , Anti-Hipertensivos/uso terapêutico , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/epidemiologia , Tolerância a Medicamentos , Dislipidemias/sangue , Dislipidemias/complicações , Ezetimiba/administração & dosagem , Ezetimiba/uso terapêutico , Feminino , Hemoglobina A Glicada/análise , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hipertensão/complicações , Hipertensão/tratamento farmacológico , Hipolipemiantes/administração & dosagem , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fumar/efeitos adversos , Adulto Jovem
4.
Endocrinol. diabetes nutr. (Ed. impr.) ; 64(10): 531-538, dic. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-171876

RESUMO

Objetivo: Valorar el control glucémico de pacientes diabéticos, medir la influencia en este control de la adherencia a los hipoglucemiantes y a las visitas médicas, y explorar factores que permitan predecir esta adherencia. Métodos: Estudio de cohortes históricas de pacientes diabéticos. Se midió el porcentaje que alcanzó una HbA1c dentro del objetivo. Se valoró la adherencia mediante la pregunta de Haynes-Sacket. Se estudiaron el cambio en la HbA1c entre la primera y la última visita, la adherencia y la asistencia a las consultas en función de las comorbilidades, los factores de riesgo cardiovascular y los tratamientos utilizados. Resultados: Se incluyeron 639 pacientes (tiempo medio de seguimiento 11,1±11,2 meses). El 66,6% alcanzó una HbA1c dentro del objetivo. El cambio en la HbA1c entre la primera y última visita se explicó en un 54,2% por la HbA1c inicial (p<0,001), en un 13% por la adherencia terapéutica (p<0,001) y en un 9,6% por la adherencia a las citas (p<0,001). La no insulinización (p=0,011) y el cese del tabaco (p=0,032) predispusieron a una mayor adherencia. La insulinización (p=0,019) y la falta de educación terapéutica (p=0,033) predispusieron a no acudir a las visitas. Conclusiones: La mejora de la HbA1c está determinada por la HbA1c inicial, la adherencia terapéutica y la asistencia a las citas. Los insulinizados tienen peor adherencia y faltan más a la consulta, los que dejan de fumar se adhieren más a los hipoglucemiantes y los que reciben educación terapéutica acuden más a la consulta (AU)


Aim: To assess glycemic control in diabetic patients, to measure the impact on such control of adherence to hypoglycemic agents and to medical visits, and to explore factors that allow for predicting adherence. Methods: Study of historical cohorts of diabetic patients. The proportion of patients who achieved the target HbA1c levels was estimated. Adherence was assessed using the Haynes-Sackett test. Change in HbA1c from the first to the last visit, adherence, and attendance to visits were analyzed according to comorbidities, cardiovascular risk factors, and treatments used. Results: The study simple consisted of 639 patients (mean follow-up time, 11.1±11.2 months), of whom 66.6% achieved target HbA1c levels. Change in HbA1c from the first to the last visit was explained in 54.2% of patients by baseline HbA1c (P<0.001), in 13% by treatment adherence (P<0.001), and in 9.6% by visit adherence (P<0.001). Non-insulinization (P=0.011) and smoking cessation (P=0.032) predisposed to greater adherence. Insulinization (P=0.019) and lack of diabetes education (P=0.033) predisposed to visit non-compliance. Conclusions: Improvement in HbA1c is determined by baseline HbA1c, treatment adherence, and attendance to visits. Patients on insulin have poorer adherence and are more likely to miss the appointments, those who stop smoking adhere more to hypoglycemic agents, and those given therapeutic education are more likely to keep the appointments (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Adesão à Medicação , Hipoglicemiantes/uso terapêutico , Índice Glicêmico , Fatores de Risco , Visita a Consultório Médico/tendências , Estudos de Coortes , Comorbidade
5.
Endocrinol Diabetes Nutr ; 64(10): 531-538, 2017 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29108925

RESUMO

AIM: To assess glycemic control in diabetic patients, to measure the impact on such control of adherence to hypoglycemic agents and to medical visits, and to explore factors that allow for predicting adherence. METHODS: Study of historical cohorts of diabetic patients. The proportion of patients who achieved the target HbA1c levels was estimated. Adherence was assessed using the Haynes-Sackett test. Change in HbA1c from the first to the last visit, adherence, and attendance to visits were analyzed according to comorbidities, cardiovascular risk factors, and treatments used. RESULTS: The study simple consisted of 639 patients (mean follow-up time, 11.1±11.2 months), of whom 66.6% achieved target HbA1c levels. Change in HbA1c from the first to the last visit was explained in 54.2% of patients by baseline HbA1c (P<0.001), in 13% by treatment adherence (P<0.001), and in 9.6% by visit adherence (P<0.001). Non-insulinization (P=0.011) and smoking cessation (P=0.032) predisposed to greater adherence. Insulinization (P=0.019) and lack of diabetes education (P=0.033) predisposed to visit non-compliance. CONCLUSIONS: Improvement in HbA1c is determined by baseline HbA1c, treatment adherence, and attendance to visits. Patients on insulin have poorer adherence and are more likely to miss the appointments, those who stop smoking adhere more to hypoglycemic agents, and those given therapeutic education are more likely to keep the appointments.


Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Adesão à Medicação , Idoso , Glicemia/análise , Comorbidade , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/psicologia , Feminino , Seguimentos , Hemoglobina A Glicada/análise , Humanos , Insulina/uso terapêutico , Masculino , Adesão à Medicação/psicologia , Pessoa de Meia-Idade , Visita a Consultório Médico/estatística & dados numéricos , Educação de Pacientes como Assunto , Fatores de Risco , Abandono do Hábito de Fumar , Resultado do Tratamento
7.
Acta méd. costarric ; 58(3): 133-136, jul.-sep. 2016. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-791460

RESUMO

Resumen:La polimiositis es una de las miopatías inflamatorias idiopáticas. Tiene una incidencia mundial estimada en 4 casos por cada millón de habitantes al año. Es considerada un diagnóstico de exclusión y se ha establecido una asociación con la infección por micobacterias. Se reporta el caso de un niño de 11 años de edad con polimiositis secundaria a tuberculosis. La polimiositis tuvo una adecuada respuesta a los corticosteroides, pero estos no fueron necesarios después del diagnóstico de una infección pulmonar por Mycobacterium tuberculosis. El tratamiento antifímico, sin la terapia con esteroides, permitió una resolución de ambas patologías y la evolución favorable del paciente.


Abstract:Polymyositis is one of the idiopathic inflammatory myopathies. It has an estimated worldwide incidence of 4 cases per million population per year. It is considered an exclusion diagnosis and a relationship with mycobacterial infection has been established. This article reports the case of an 11-year-old boy with polymyositis secondary to tuberculosis. Polymyositis had an adequate response to corticosteroids, but these were not needed after the diagnosis of a Mycobacterium tuberculosis lung infection. Anti-tuberculosis treatment without steroid therapy, allowed a resolution of both conditions and the favorable outcome of the patient.


Assuntos
Humanos , Doenças Musculares , Polimiosite , Tuberculose
8.
Pediatr Blood Cancer ; 62(12): 2101-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26185101

RESUMO

AIM: We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database. RESULTS: Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was 23.9 months, and the mean age at CGD diagnosis was 52.7 months. Recurrent pneumonia was the most frequent clinical condition (76.8%), followed by lymphadenopathy (59.4%), granulomata (49.3%), skin infections (42%), chronic diarrhea (41.9%), otitis (29%), sepsis (23.2%), abscesses (21.7%), recurrent urinary tract infection (20.3%), and osteomyelitis (15.9%). Adverse reactions to bacillus Calmette-Guérin (BCG) vaccination were identified in 30% of the studied Latin American CGD cases. The genetic diagnoses of the 71 patients revealed 53 patients from 47 families with heterogeneous mutations in the CYBB gene (five novel mutations: p.W361G, p.C282X, p.W483R, p.R226X, and p.Q93X), 16 patients with the common deletion c.75_76 del.GT in exon 2 of NCF1 gene, and two patients with mutations in the CYBA gene. CONCLUSION: The majority of Latin American CGD patients carry a hemizygous mutation in the CYBB gene. They also presented a wide range of clinical manifestations most frequently bacterial and fungal infections of the respiratory tract, skin, and lymph nodes. Thirty percent of the Latin American CGD patients presented adverse reactions to BCG, indicating that this vaccine should be avoided in these patients.


Assuntos
Doença Granulomatosa Crônica , Glicoproteínas de Membrana/genética , Mutação , NADPH Oxidases/genética , Sistema de Registros , Abscesso/epidemiologia , Abscesso/etiologia , Abscesso/genética , Adolescente , Idade de Início , Criança , Pré-Escolar , Diarreia/epidemiologia , Diarreia/etiologia , Diarreia/genética , Feminino , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/epidemiologia , Doença Granulomatosa Crônica/genética , Hispano-Americanos , Humanos , Lactente , Recém-Nascido , Doenças Linfáticas/epidemiologia , Doenças Linfáticas/etiologia , Doenças Linfáticas/genética , Masculino , NADPH Oxidase 2 , Osteomielite/epidemiologia , Osteomielite/etiologia , Osteomielite/genética , Otite/epidemiologia , Otite/etiologia , Otite/genética , Pneumonia/epidemiologia , Pneumonia/etiologia , Pneumonia/genética , Sepse/epidemiologia , Sepse/etiologia , Sepse/genética , Dermatopatias/epidemiologia , Dermatopatias/etiologia , Dermatopatias/genética , Infecções Urinárias/epidemiologia , Infecções Urinárias/etiologia , Infecções Urinárias/genética
9.
J Clin Immunol ; 35(2): 189-98, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25627830

RESUMO

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.3 years (1.3-47.7) spanning 1693 patient years, were enrolled. Eczema, recurrent respiratory tract infections, allergies, abscesses, viral infections and mucocutaneous candidiasis were the most frequent clinical manifestations. Overall survival probability in this cohort [censored for hematopoietic stem cell transplantation (HSCT)] was 87 % at 10, 47 % at 20, and 33 % at 30 years of age, respectively. Event free survival was 44, 18 and 4 % at the same time points if events were defined as death, life-threatening infections, malignancy or cerebral complications such as CNS vasculitis or stroke. Malignancy was diagnosed in 23/136 (17 %) patients (11 hematological and 9 epithelial cancers, 5 other malignancies) at a median age of 12 years. Eight of these patients died from cancer. Severe, life-threatening infections were observed in 79/136 (58 %); severe non-infectious cerebral events occurred in 14/136 (10 %). Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and HSCT. This study provides a comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far and demonstrates the severity of the disease with relatively poor prognosis. Early HSCT should be strongly considered as a potential curative measure.


Assuntos
Estudos de Associação Genética , Fatores de Troca do Nucleotídeo Guanina/deficiência , Fatores de Troca do Nucleotídeo Guanina/genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Imunoglobulina E/sangue , Imunoglobulina E/imunologia , Incidência , Lactente , /epidemiologia , Síndrome de Job/complicações , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Síndrome de Job/imunologia , Síndrome de Job/mortalidade , Síndrome de Job/terapia , Contagem de Linfócitos , Subpopulações de Linfócitos/imunologia , Subpopulações de Linfócitos/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação , Neoplasias/epidemiologia , Neoplasias/etiologia , Fenótipo , Adulto Jovem
10.
J Allergy Clin Immunol ; 133(4): 1134-41, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24679470

RESUMO

BACKGROUND: Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected. OBJECTIVES: We sought to describe the complications and risks associated with BCG vaccination in patients with SCID. METHODS: An extensive standardized questionnaire evaluating complications, therapeutics, and outcomes regarding BCG vaccination in patients given a diagnosis of SCID was widely distributed. Summary statistics and association analysis was performed. RESULTS: Data on 349 BCG-vaccinated patients with SCID from 28 centers in 17 countries were analyzed. Fifty-one percent of the patients had BCG-associated complications, 34% disseminated and 17% localized (a 33,000- and 400-fold increase, respectively, over the general population). Patients receiving early vaccination (≤1 month) showed an increased prevalence of complications (P = .006) and death caused by BCG-associated complications (P < .0001). The odds of experiencing complications among patients with T-cell numbers of 250/µL or less at diagnosis was 2.1 times higher (95% CI, 1.4-3.4 times higher; P = .001) than among those with T-cell numbers of greater than 250/µL. BCG-associated complications were reported in 2 of 78 patients who received antimycobacterial therapy while asymptomatic, and no deaths caused by BCG-associated complications occurred in this group. In contrast, 46 BCG-associated deaths were reported among 160 patients treated with antimycobacterial therapy for a symptomatic BCG infection (P < .0001). CONCLUSIONS: BCG vaccine has a very high rate of complications in patients with SCID, which increase morbidity and mortality rates. Until safer and more efficient antituberculosis vaccines become available, delay in BCG vaccination should be considered to protect highly vulnerable populations from preventable complications.


Assuntos
Vacina BCG/efeitos adversos , Imunodeficiência Combinada Severa/epidemiologia , Vacina BCG/imunologia , Pré-Escolar , Comorbidade , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Prevalência , Estudos Retrospectivos , Risco , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/terapia , Vacinação/efeitos adversos , Vacinação/legislação & jurisprudência
11.
J Clin Immunol ; 34(2): 146-56, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24402618

RESUMO

Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.


Assuntos
Síndrome de Imunodeficiência com Hiper-IgM/epidemiologia , Ligante de CD40/deficiência , Ligante de CD40/genética , Pré-Escolar , Comorbidade , Citidina Desaminase/deficiência , Citidina Desaminase/genética , Feminino , Hispano-Americanos , Humanos , Síndrome de Imunodeficiência com Hiper-IgM/complicações , Síndrome de Imunodeficiência com Hiper-IgM/diagnóstico , Síndrome de Imunodeficiência com Hiper-IgM/terapia , Lactente , Recém-Nascido , /etiologia , Pulmão/patologia , Masculino , Sistema de Registros , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
12.
J Clin Immunol ; 34(1): 10-22, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24241582

RESUMO

PURPOSE: Patients with primary immunodeficiency diseases (PIDD) may present with recurrent infections affecting different organs, organ-specific inflammation/autoimmunity, and also increased cancer risk, particularly hematopoietic malignancies. The diversity of PIDD and the wide age range over which these clinical occurrences become apparent often make the identification of patients difficult for physicians other than immunologists. The aim of this report is to develop a tool for educative programs targeted to specialists and applied by clinical immunologists. METHODS: Considering the data from national surveys and clinical reports of experiences with specific PIDD patients, an evidence-based list of symptoms, signs, and corresponding laboratory tests were elaborated to help physicians other than immunologists look for PIDD. RESULTS: Tables including main clinical manifestations, restricted immunological evaluation, and possible related diagnosis were organized for general practitioners and 5 specialties. Tables include information on specific warning signs of PIDD for pulmonologists, gastroenterologists, dermatologists, hematologists, and infectious disease specialists. CONCLUSIONS: This report provides clinical immunologists with an instrument they can use to introduce specialists in other areas of medicine to the warning signs of PIDD and increase early diagnosis. Educational programs should be developed attending the needs of each specialty.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/imunologia , Testes Diagnósticos de Rotina , Humanos , Síndromes de Imunodeficiência/complicações , /etiologia
13.
Bone ; 57(1): 1-9, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23907031

RESUMO

Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorptive function of IMO osteoclasts by lentiviral mediated gene transfer of the TCIRG1 cDNA. CD34(+) cells from peripheral blood of five IMO patients and from normal cord blood were transduced with lentiviral vectors expressing TCIRG1 and GFP under a SFFV promoter, expanded in culture and differentiated on bone slices to mature osteoclasts. qPCR analysis and western blot revealed increased mRNA and protein levels of TCIRG1, comparable to controls. Vector corrected IMO osteoclasts generated increased release of Ca(2+) and bone degradation product CTX-I into the media as well as increased formation of resorption pits in the bone slices, while non-corrected IMO osteoclasts failed to resorb bone. Resorption was approximately 70-80% of that of osteoclasts generated from cord blood. Furthermore, transduced CD34(+) cells successfully engrafted in NSG-mice. In conclusion we provide the first evidence of lentiviral-mediated correction of a human genetic disease affecting the osteoclastic lineage.


Assuntos
Antígenos CD34/metabolismo , Lentivirus/genética , Osteopetrose/genética , Osteopetrose/terapia , ATPases Vacuolares Próton-Translocadoras/genética , ATPases Vacuolares Próton-Translocadoras/metabolismo , Animais , Células Cultivadas , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Immunoblotting , Lactente , Recém-Nascido , Masculino , Camundongos , Camundongos SCID , Osteoclastos/citologia , Osteoclastos/metabolismo , Reação em Cadeia da Polimerase
14.
Acta méd. costarric ; 55(2): 96-102, abr.-jun. 2013. tab
Artigo em Espanhol | LILACS | ID: lil-700702

RESUMO

Se conoce que la transmisión perinatal del VIH es prevenible con la toma de algunas medidas generales y otras específicas. La acción fundamental para lograr esta prevención es identificar temprano durante el embarazo, cuáles mujeres embarazadas están infectadas por VIH. Para conseguir este objetivo es necesario realizar la prueba del ELISA para VIH, a toda embarazada, en su primera consulta prenatal. Las guías para la prevención de la transmisión perinatal de VIH se desarrollaron con el fin de facilitar la aplicación de todas las acciones necesarias para prevenir la transmisión perinatal de VIH en Costa Rica, brindando una óptima atención médica a la madre y al recién nacido. Los elementos fundamentales de estas guías incluyen: tratamiento con 3 antirretrovirales a las mujeres embarazadas VIH+, a apartir de la 12ava semana de gestación, uso intravenoso de Zidovudina en labor, vía de parto por cesárea, suspensión de la lactancia materna, profilaxis con Zidovudina al recién nacido a partir de las 8 horas de edad. Las guías proveen también recomendaciones para proceder en situaciones especiales relacionadas con la embarazada VIH+ y su hijo...


Assuntos
Humanos , Feminino , Gravidez , Transmissão de Doença Infecciosa , Relações Mãe-Filho , Gravidez , Síndrome de Imunodeficiência Adquirida/prevenção & controle , Síndrome de Imunodeficiência Adquirida/tratamento farmacológico , Zidovudina
15.
Ann Rheum Dis ; 72(9): 1503-9, 2013 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-23100607

RESUMO

OBJECTIVES: To evaluate therapeutic approaches and response to therapy in juvenile systemic lupus erythematosus (SLE) with renal involvement in a large prospective international cohort from four geographic areas. METHODS: New onset and flared patients with active renal disease (proteinuria ≥0.5 g/24 h) were enrolled in 2001-2004. Therapeutic approaches and disease activity parameters were analysed at baseline, 6, 12 and 24 months. Response was assessed by the PRINTO/ACR criteria. RESULTS: 218/557 (79.8% female subjects, 117 new onset and 101 flared) patients with active renal disease were identified; 66 patients were lost to follow-up and 11 died. Mean age at disease onset for new onset group was higher than for flared group (13.1 vs 10.2 years, p<0.0001). At baseline, both groups had similar renal activity with similar median doses of corticosteroids (1.0-0.76 mg/kg/day). Cyclophosphamide (43.1%) and azathioprine (22%) were the most common immunosuppressive drugs. At baseline, South American patients received higher doses of corticosteroids than in other areas in new onset (median 1.16 vs 0.8-1 mg/kg/day) while cyclophosphamide use was similar in all four regions in the new onset group. There were no differences regarding the use of azathioprine or mycophenolate mofetil worldwide. PRINTO 70 response was reached in a greater percentage of new onset versus flared patients (74.8% vs 53.3%; p=0.005) at 6 months while at 24 months ACR 90 was reached by 69.9% and 56.1%, respectively. CONCLUSIONS: New onset and flared juvenile SLE improved similarly over 24 months with minimal differences in therapeutic approaches worldwide.


Assuntos
Azatioprina/uso terapêutico , Ciclofosfamida/uso terapêutico , Glucocorticoides/uso terapêutico , Imunossupressores/uso terapêutico , Nefrite Lúpica/tratamento farmacológico , Adolescente , Idade de Início , Estudos de Coortes , Quimioterapia Combinada , Feminino , Nível de Saúde , Humanos , Cooperação Internacional , Nefrite Lúpica/epidemiologia , Nefrite Lúpica/patologia , Nefrite Lúpica/urina , Masculino , Estudos Prospectivos , Proteinúria/patologia , Recidiva , Índice de Gravidade de Doença , Resultado do Tratamento
16.
Acta méd. costarric ; 54(4): 262-268, oct.-dic. 2012. tab
Artigo em Espanhol | LILACS | ID: lil-700637

RESUMO

El siguiente documento recolecta información actualizada para el abordaje de la persona con infección por el virus de inmunodeficiencia humano, adaptado a la realidad nacional. Se considera que la terapia antirretroviral debe iniciarse lo antes posible en personas con conteo linfocitario menor de 350 linfocitos T CD4+/mm3, previa valoración clínica y asegurado seguimiento estricto por parte de un equipo interdisciplinario. La carga viral será  el parámetro que se utilizará para el seguimiento y como meta, se proyecta alcanzar indetectabilidad a los 6 meses de tratamiento...


Assuntos
Humanos , Síndrome de Imunodeficiência Adquirida/diagnóstico , Síndrome de Imunodeficiência Adquirida/terapia , Terapêutica
17.
Acta méd. costarric ; 53(2): 71-77, abr.-jun. 2011.
Artigo em Espanhol | LILACS | ID: lil-648404

RESUMO

El compromiso de la regulación de la inflamación produce activación excesiva y expansión de macrófagos y linfocitos T que desencadenan una reacción inflamatoria severa, sin vías naturales de control. Los trastornos hemofagocíticos son la traducción clínica de este proceso inflamatorio. La linfohistiocitosis hemofagocítica se refiere a todas las variantes de esta patología, y el síndrome de activación macrofágica, a la variante asociada con enfermedad autoinmune. Los casos primarios se asocian con la forma familiar autosómica recesiva y los secundarios con inmunodeficiencias primarias, infección, malignidad y enfermedades autoinmunes. El principal distintivo de este grupo de patologías es la proliferación agresiva de macrófagos e histiocitos que fagocitan otras células sanguíneas. La reducción en la actividad de las células NK produce un aumento en la activación y expasión de linfocitos T, los cuales producen grandes cantidades de citoquinas. Las citoquinas inducen activación de macrófagos y células dendríticas, infiltración tisular y producción de interleuquinas, lo que genera una racción inflamatoria severa, responsable del daño tisular y de las manifestaciones clínicas.El curso clínico se caracteriza principalmente por fiebre prolongada, hepatoesplenomegalia y citopenias. Los estudios de laboratorio muestran aumento de ferritina, triglicéridos e hipofibrinogenemia. La hemofagocitosis en médula ósea está presente en más del 80 porciento de los casos al diagnóstico. El tratamiento está dirigido contra el linfocito T y los histocitos hiperactivados, combinando quimioterapia con inmunosupresores y, en algunos casos trasplante de células madre hematopoyéticas. Este tratamiento ha producido un cambio en la sobrevida de los pacientes. El protocolo de tratamiento HLH-2004 es una guía que estandariza el tratamiento, combinando etopósido, exametazona y ciclisporina A. En Costa Rica se han reportado 60 casos en población pediátrica, con una mortalidad promedio del 44 porciento.


Assuntos
Humanos , Ciclosporina , Tratamento Farmacológico , Histiocitose de Células não Langerhans , Imunossupressores/administração & dosagem , Linfócitos T , Costa Rica
18.
Acta méd. costarric ; 53(1): 37-41, ene.-mar. 2011. ilus
Artigo em Espanhol | LILACS | ID: lil-648315

RESUMO

El síndrome con deleción 22q11 es una enfermedad autosómica recesiva causada por una microdeleción 22q11.2. En este artículo se reportan los tres primeros casos del síndrome confirmados por citogenética en Costa Rica. El estudio de fluorescencia con hibridización in situ que demostró la microdeleción 22q11.2, se indicó por la sospecha clínica del síndrome, en 2 niños y una niña con malformaciones congénitas conotruncales de corazón. Dos de los casos se encuentran vivos a la fecha cuando se escribió este reporte y uno falleció en el postoperatorio inmediato de la cirugía para corregir la cardiopatía. Al inicio de los síntomas, en los tres casos se documentó falla para progresar y en dos se anotó dismorfismo en referencia a rasgos faciales anormales. En un caso se reportó paladar hendido y en otro pie, bott. A pesar de que la malformación congénita de corazón es el hallazgo clínico que con frecuencia induce al médico a pensar en este síndrome, los trastornos cognitivos y del comportamiento son las manifestaciones fenotípicas más frecuentes.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Aberrações Cromossômicas , Fissura Palatina , Cardiopatias Congênitas , Cardiopatias , Síndromes de Imunodeficiência , Costa Rica
19.
Acta méd. costarric ; 52(4): 192-194, dic. 2010.
Artigo em Espanhol | LILACS | ID: lil-700606
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