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1.
J Clin Immunol ; 42(3): 514-526, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34982304

RESUMEN

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.


Asunto(s)
Ligando de CD40 , Síndromes de Inmunodeficiencia , Ligando de CD40/genética , Estudios de Cohortes , Humanos , Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/genética , Síndromes de Inmunodeficiencia/terapia , América Latina/epidemiología , Estudios Retrospectivos
2.
BMC Infect Dis ; 22(1): 347, 2022 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-35392820

RESUMEN

BACKGROUND: Important prevention efforts have led to a reduction in mother-to-child transmission of HIV (MTCT) globally. However, new cases of paediatric HIV infections still occur. Early diagnosis of new HIV infections is essential to start an appropriate antiretroviral treatment to avoid childhood morbidity and mortality related to infection. The aim of this study was to describe the new cases of MTCT in Latin-American referral hospitals. METHODS: A retrospective, multicentre and descriptive study of the new cases of MTCT diagnosed during 2018 in 13 referral hospitals from 8 Latin-American countries (Costa Rica, Ecuador, El Salvador, Guatemala, Honduras, Mexico, Nicaragua, and Panama) belonging to PLANTAIDS (Paediatric Network for Prevention, Early Detection and Treatment of HIV in Children), was conducted. PLANTAIDS is included in CYTED (Ibero-American Programme of Science and Technology for Development). RESULTS: Eighty-one children (40.7% males) were included, median age at diagnosis of 2.33 years (IQR:0.7-4.7). Less than 3% of women knew their HIV diagnosis before pregnancy. More than 80% of them were diagnosed after delivery, 8.7% during pregnancy, and 2.9% at delivery. Only one patient underwent antiretroviral therapy (ART) prior to pregnancy. At diagnosis, 50.0% of the children presented with an advanced stage of disease (stage C following the current CDC classification for HIV infection), and 34.4% had less than 15% CD4+ cells/mm3. The time elapsed between delivery and the maternal diagnosis was correlated with the age of children at diagnosis, ρ = 0.760, p < 0.001. Younger age at diagnosis (p = 0.03), a smaller number of previous hospitalizations (p < 0.01), and better immunovirological status (p < 0.01) were found in children whose mothers knew their HIV status at delivery, compared to mothers who were not aware of it. CONCLUSIONS: Although MTCT in Latin America has declined in recent years, our series shows there are still cases that indicate some failures in prevention, being a critical point to improve an earlier diagnosis of pregnant women. Half of the children were diagnosed in an advanced stage of disease and the delay in maternal diagnosis entailed a worse clinical and immunological child' prognosis.


Asunto(s)
Infecciones por VIH , Complicaciones Infecciosas del Embarazo , Antirretrovirales/uso terapéutico , Niño , Femenino , Infecciones por VIH/diagnóstico , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/prevención & control , Humanos , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Masculino , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/tratamiento farmacológico , Estudios Retrospectivos
3.
J Allergy Clin Immunol ; 144(4): 897-905, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31419546

RESUMEN

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.


Asunto(s)
Guías de Práctica Clínica como Asunto , Inmunodeficiencia Combinada Grave/diagnóstico , Inmunodeficiencia Combinada Grave/terapia , Consenso , Humanos , América Latina
5.
J Clin Immunol ; 35(2): 189-98, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25627830

RESUMEN

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.


Asunto(s)
Estudios de Asociación Genética , Factores de Intercambio de Guanina Nucleótido/deficiencia , Factores de Intercambio de Guanina Nucleótido/genética , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Inmunoglobulina E/sangre , Inmunoglobulina E/inmunología , Incidencia , Lactante , Infecciones/diagnóstico , Infecciones/epidemiología , Infecciones/etiología , Síndrome de Job/complicaciones , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Síndrome de Job/inmunología , Síndrome de Job/mortalidad , Síndrome de Job/terapia , Recuento de Linfocitos , Subgrupos Linfocitarios/inmunología , Subgrupos Linfocitarios/metabolismo , Masculino , Persona de Mediana Edad , Mutación , Neoplasias/epidemiología , Neoplasias/etiología , Fenotipo , Adulto Joven
6.
Pediatr Blood Cancer ; 62(12): 2101-7, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26185101

RESUMEN

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.


Asunto(s)
Enfermedad Granulomatosa Crónica , Glicoproteínas de Membrana/genética , Mutación , NADPH Oxidasas/genética , Sistema de Registros , Absceso/epidemiología , Absceso/etiología , Absceso/genética , Adolescente , Edad de Inicio , Niño , Preescolar , Diarrea/epidemiología , Diarrea/etiología , Diarrea/genética , Femenino , Enfermedad Granulomatosa Crónica/complicaciones , Enfermedad Granulomatosa Crónica/epidemiología , Enfermedad Granulomatosa Crónica/genética , Hispánicos o Latinos , Humanos , Lactante , Recién Nacido , Enfermedades Linfáticas/epidemiología , Enfermedades Linfáticas/etiología , Enfermedades Linfáticas/genética , Masculino , NADPH Oxidasa 2 , Osteomielitis/epidemiología , Osteomielitis/etiología , Osteomielitis/genética , Otitis/epidemiología , Otitis/etiología , Otitis/genética , Neumonía/epidemiología , Neumonía/etiología , Neumonía/genética , Sepsis/epidemiología , Sepsis/etiología , Sepsis/genética , Enfermedades de la Piel/epidemiología , Enfermedades de la Piel/etiología , Enfermedades de la Piel/genética , Infecciones Urinarias/epidemiología , Infecciones Urinarias/etiología , Infecciones Urinarias/genética
7.
J Allergy Clin Immunol ; 133(4): 1134-41, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24679470

RESUMEN

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.


Asunto(s)
Vacuna BCG/efectos adversos , Inmunodeficiencia Combinada Grave/epidemiología , Vacuna BCG/inmunología , Preescolar , Comorbilidad , Femenino , Trasplante de Células Madre Hematopoyéticas , Humanos , Lactante , Recién Nacido , Estimación de Kaplan-Meier , Masculino , Prevalencia , Estudios Retrospectivos , Riesgo , Inmunodeficiencia Combinada Grave/diagnóstico , Inmunodeficiencia Combinada Grave/terapia , Vacunación/efectos adversos , Vacunación/legislación & jurisprudencia
8.
J Clin Immunol ; 34(1): 10-22, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24241582

RESUMEN

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.


Asunto(s)
Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/inmunología , Pruebas Diagnósticas de Rutina , Humanos , Síndromes de Inmunodeficiencia/complicaciones , Infecciones/diagnóstico , Infecciones/etiología
9.
J Clin Immunol ; 34(2): 146-56, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24402618

RESUMEN

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.


Asunto(s)
Síndrome de Inmunodeficiencia con Hiper-IgM/epidemiología , Ligando de CD40/deficiencia , Ligando de CD40/genética , Preescolar , Comorbilidad , Citidina Desaminasa/deficiencia , Citidina Desaminasa/genética , Femenino , Hispánicos o Latinos , Humanos , Síndrome de Inmunodeficiencia con Hiper-IgM/complicaciones , Síndrome de Inmunodeficiencia con Hiper-IgM/diagnóstico , Síndrome de Inmunodeficiencia con Hiper-IgM/terapia , Lactante , Recién Nacido , Infecciones/diagnóstico , Infecciones/etiología , Pulmón/patología , Masculino , Sistema de Registros , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
10.
Ann Rheum Dis ; 72(9): 1503-9, 2013 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-23100607

RESUMEN

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.


Asunto(s)
Azatioprina/uso terapéutico , Ciclofosfamida/uso terapéutico , Glucocorticoides/uso terapéutico , Inmunosupresores/uso terapéutico , Nefritis Lúpica/tratamiento farmacológico , Adolescente , Edad de Inicio , Estudios de Cohortes , Quimioterapia Combinada , Femenino , Estado de Salud , Humanos , Cooperación Internacional , Nefritis Lúpica/epidemiología , Nefritis Lúpica/patología , Nefritis Lúpica/orina , Masculino , Estudios Prospectivos , Proteinuria/patología , Recurrencia , Índice de Severidad de la Enfermedad , Resultado del Tratamiento
11.
Cancer Med ; 12(13): 14663-14673, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37264737

RESUMEN

BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. We aimed to understand the current international practice regarding cancer surveillance in A-T and agreed-upon approaches to develop cancer surveillance in A-T. DESIGN/METHODS: We used a consensus development method, the e-Delphi technique, comprising three rounds. Round 1 consisted of a Delphi questionnaire and a survey that collected the details of respondents' professional background, experience, and current practice of cancer surveillance in A-T. Rounds 2 and 3 were designed based on previous rounds and modified according to the comments made by the panellists. The pre-specified consensus threshold was ≥75% agreement. RESULTS: Thirty-five expert panellists from 13 countries completed the study. The survey indicated that the current practice of cancer surveillance varies widely between experts and centres'. Consensus was reached that evidence-based guidelines are needed for cancer surveillance in people with A-T, with separate recommendations for adults and children. Statements relating to the tests that should be included, the age for starting and stopping cancer surveillance and the optimal surveillance interval were also agreed upon, although in some areas, the consensus was that further research is needed. CONCLUSION: The international expert consensus statement confirms the need for evidence-based cancer surveillance guidelines in A-T, highlights key features that the guidelines should include, and identifies areas of uncertainty in the expert community. This elucidates current knowledge gaps and will inform the design of future clinical trials.


Asunto(s)
Ataxia Telangiectasia , Neoplasias , Adulto , Niño , Humanos , Ataxia Telangiectasia/complicaciones , Ataxia Telangiectasia/diagnóstico , Consenso , Técnica Delphi , Encuestas y Cuestionarios
12.
Endocrinol Diabetes Nutr (Engl Ed) ; 66(4): 223-231, 2019 Apr.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30541682

RESUMEN

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.


Asunto(s)
LDL-Colesterol/sangre , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Dislipidemias/tratamiento farmacológico , Hipolipemiantes/uso terapéutico , Adolescente , Adulto , Anciano , Anticolesterolemiantes/administración & dosificación , Anticolesterolemiantes/uso terapéutico , Antihipertensivos/uso terapéutico , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/complicaciones , Neuropatías Diabéticas/epidemiología , Tolerancia a Medicamentos , Dislipidemias/sangre , Dislipidemias/complicaciones , Ezetimiba/administración & dosificación , Ezetimiba/uso terapéutico , Femenino , Hemoglobina Glucada/análisis , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hipertensión/complicaciones , Hipertensión/tratamiento farmacológico , Hipolipemiantes/administración & dosificación , Lípidos/sangre , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Fumar/efectos adversos , Adulto Joven
13.
Endocrinol Diabetes Nutr ; 64(10): 531-538, 2017 Dec.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29108925

RESUMEN

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.


Asunto(s)
Diabetes Mellitus Tipo 2/tratamiento farmacológico , Cumplimiento de la Medicación , Anciano , Glucemia/análisis , Comorbilidad , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/psicología , Femenino , Estudios de Seguimiento , Hemoglobina Glucada/análisis , Humanos , Insulina/uso terapéutico , Masculino , Cumplimiento de la Medicación/psicología , Persona de Mediana Edad , Visita a Consultorio Médico/estadística & datos numéricos , Educación del Paciente como Asunto , Factores de Riesgo , Cese del Hábito de Fumar , Resultado del Tratamiento
14.
Acta méd. costarric ; 62(3)sept. 2020.
Artículo en Español | LILACS, SaludCR | ID: biblio-1383336

RESUMEN

Resumen El virus Chikungunya produce una enfermedad de reciente aparición y creciente incidencia en Costa Rica. Las manifestaciones crónicas de la enfermedad se consideran de importancia en el área de la reumatología. La paciente presentó factores de riesgo para cronicidad como el sexo, la duración y severidad de la fase aguda, el número de articulaciones comprometidas y la asociación con el síndrome de activación macrofágica. En una artritis idiopática juvenil, que es el principal diagnóstico diferencial, se esperaría un inicio más insidioso y no agudo como en este caso; además, la paciente no presentó hepatomegalia o serositis e inicialmente no tuvo trombocitosis, pero manifestó un síndrome de activación macrofágica, que es una complicación inflamatoria descrita en artritis idiopática juvenil. La remisión del cuadro de artritis crónica con el uso de metotrexate, no ayuda al diagnóstico diferencial, porque se ha reportado que este es el tratamiento crónico de elección en ambas patologías. En este reporte se presenta el caso de una paciente pediátrica que ingresó con un cuadro agudo de Chikungunya confirmado serológicamente, y que evolucionó con criterios de una artritis idiopática juvenil sistémica y un síndrome de activación macrofágica secundario.


Abstract Chikungunya virus produce a disease of recent emergence and increasing incidence in Costa Rica. Chronicmanifestations of the disease are considered of importance in the rheumatology area. The patient presented risk factors for chronicity such as sex, the duration and severity of the acute phase, the number of joints involved, and the association with macrophage activation syndrome. In juvenile idiopathic arthritis, which is the main differential diagnosis, a more insidious and non-acute onset would be expected, as in this case, in addition, the patient did not present hepatomegaly or serositis and initially did not have thrombocytosis, but had a macrophage activation syndrome, which is an inflammatory complication described in juvenile idiopathic arthritis. Remission of the chronic arthritis condition with the use of methotrexate does not help the differential diagnosis, because it has been reported that this is the chronic treatment of choice in both pathologies. This report presents the case of a pediatric patient who was admitted with an acute episode of Chikungunya confirmed serologically and who evolved with systemic juvenile idiopathic arthritis criteria and secondary macrophage activation syndrome.


Asunto(s)
Humanos , Femenino , Preescolar , Artritis/diagnóstico , Fiebre Chikungunya/complicaciones , Costa Rica
15.
Hum Mutat ; 22(1): 43-50, 2003 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12815592

RESUMEN

Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). Many different mutations have been identified using various techniques, with detection efficiencies ranging from 57 to 85%. In this study, we employed short tandem repeat (STR) haplotypes to enhance mutation identification in 55 unrelated A-T families of Iberian origin (20 Spanish, 17 Brazilian, and 18 Hispanic-American); we were able to identify 95% of the expected mutations. Allelic sizes were standardized based on a reference sample (CEPH 1347-2). Subsequent mutation screening was performed by PTT, SSCP, and DHPLC, and abnormal regions were sequenced. Many STR haplotypes were found within each population and six haplotypes were observed across several of these populations. Single nucleotide polymorphism (SNP) haplotypes further suggested that most of these common mutations are ancestrally related, and not hot spots. However, two mutations (8977C>T and 8264_8268delATAAG) may indeed be recurring mutational events. Common haplotypes were present in 13 of 20 Spanish A-T families (65%), in 11 of 17 Brazilian A-T families (65%), and, in contrast, in only eight of 18 Hispanic-American families (44%). Three mutations were identified that would be missed by conventional screening strategies. In all, 62 different mutations (28 not previously reported) were identified and their associated haplotypes defined, thereby establishing a new database for Iberian A-T families, and extending the spectrum of worldwide ATM mutations.


Asunto(s)
Pruebas Genéticas/métodos , Haplotipos/genética , Mutagénesis/genética , Proteínas Serina-Treonina Quinasas/genética , Ataxia Telangiectasia/epidemiología , Ataxia Telangiectasia/etnología , Ataxia Telangiectasia/genética , Proteínas de la Ataxia Telangiectasia Mutada , Brasil/epidemiología , Proteínas de Ciclo Celular , Costa Rica/epidemiología , Proteínas de Unión al ADN , Bases de Datos Genéticas , Efecto Fundador , Hispánicos o Latinos/genética , Humanos , Internet , Fosfatidilinositol 3-Quinasas/genética , Polimorfismo de Nucleótido Simple/genética , Portugal/epidemiología , España/epidemiología , Secuencias Repetidas en Tándem/genética , Proteínas Supresoras de Tumor , Estados Unidos/epidemiología
16.
Bone ; 57(1): 1-9, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23907031

RESUMEN

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.


Asunto(s)
Antígenos CD34/metabolismo , Lentivirus/genética , Osteopetrosis/genética , Osteopetrosis/terapia , ATPasas de Translocación de Protón Vacuolares/genética , ATPasas de Translocación de Protón Vacuolares/metabolismo , Animales , Células Cultivadas , Niño , Preescolar , Femenino , Citometría de Flujo , Humanos , Immunoblotting , Lactante , Recién Nacido , Masculino , Ratones , Ratones SCID , Osteoclastos/citología , Osteoclastos/metabolismo , Reacción en Cadena de la Polimerasa
17.
Acta méd. costarric ; 64(1)mar. 2022.
Artículo en Español | LILACS, SaludCR | ID: biblio-1402987
19.
Acta méd. costarric ; 58(3): 133-136, jul.-sep. 2016. tab, ilus
Artículo en Español | LILACS | ID: lil-791460

RESUMEN

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.


Asunto(s)
Humanos , Enfermedades Musculares , Polimiositis , Tuberculosis
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