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3.
Int J Mol Sci ; 19(7)2018 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-30029515

RESUMO

Pregnancy and early infancy represent two very particular immunological states. During pregnancy, the haploidentical fetus and the pregnant women develop tolerance mechanisms to avoid rejection; then, just after birth, the neonatal immune system must modulate the transition from the virtually sterile but haploidentical uterus to a world full of antigens and the rapid microbial colonization of the mucosa. B regulatory (Breg) cells are a recently discovered B cell subset thought to play a pivotal role in different conditions such as chronic infections, autoimmunity, cancer, and transplantation among others in addition to pregnancy. This review focuses on the role of Breg cells in pregnancy and early infancy, two special stages of life in which recent studies have positioned Breg cells as important players.


Assuntos
Linfócitos B Reguladores/metabolismo , Doença , Feminino , Saúde , Humanos , Sistema Imunitário/metabolismo , Recém-Nascido , Gravidez
4.
J Clin Immunol ; 38(6): 712-716, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30039354

RESUMO

PURPOSE: Mendelian suceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing to severe disease caused by mycobacteria and other intracellular pathogens. Delay in diagnosis can have an impact on the patient's prognosis. METHODS: We evaluated the IFN-γ circuit by studying IFN-γ production after mycobacterial challenge as well as IL-12Rß1 expression and STAT4 phosphorylation in response to IL-12p70 stimulation in whole blood of a 6-year-old Peruvian girl with disseminated recurrent mycobacterial infection diagnosed as multidrug-resistant tuberculosis. Genetic studies with Sanger sequencing were used to identify the causative mutation. Microbiological studies based on PCR reactions were used to diagnose the specific mycobacterial species. RESULTS: We identified a homozygous mutation in the IL12RB1 gene (p. Arg211*) causing abolished expression of IL-12Rß1 and IL-12 response. MSMD diagnosis led to a microbiological reevaluation of the patient, revealing a BCG vaccine-related infection instead of tuberculosis. Treatment was then adjusted, with good response. CONCLUSIONS: We report the first Peruvian patient with IL-12Rß1 deficiency. Specific mycobacterial species diagnosis within Mycobacterium tuberculosis complex is still challenging in countries with limited access to PCR-based microbiological diagnostic techniques. Awareness of MSMD warning signs and accurate microbiological diagnosis of mycobacterial infections are of the utmost importance for optimal diagnosis and management of affected patients.

5.
Front Immunol ; 9: 636, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29867916

RESUMO

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have analyzed whole-exome sequencing and copy number variants data of 36 children and adolescents diagnosed with CVID and healthy relatives to estimate the proportion of monogenic cases. We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date. Our results also identify five causative genetic variants in LRBA, CTLA4, NFKB1, and PIK3R1, as well as other very likely causative variants in PRKCD, MAPK8, or DOCK8 among others. We experimentally validate the effect of the LRBA stop-gain mutation which abolishes protein production and downregulates the expression of CTLA4, and of the frameshift indel in CTLA4 producing expression downregulation of the protein. Our results indicate a monogenic origin of at least 15-24% of the CVID cases included in the study. The proportion of monogenic patients seems to be lower in CVID than in other PID that have also been analyzed by whole exome or targeted gene panels sequencing. Regardless of the exact proportion of CVID monogenic cases, other genetic models have to be considered for CVID. We propose that because of its prevalence and other features as intermediate penetrancies and phenotypic variation within families, CVID could fit with other more complex genetic scenarios. In particular, in this work, we explore the possibility of CVID being originated by an oligogenic model with the presence of heterozygous mutations in interacting proteins or by the accumulation of detrimental variants in particular immunological pathways, as well as perform association tests to detect association with rare genetic functional variation in the CVID cohort compared to healthy controls.

6.
Crit Rev Clin Lab Sci ; 55(3): 184-204, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29502462

RESUMO

The integrity of the interferon (IFN)-γ circuit is necessary to mount an effective immune response to intra-macrophagic pathogens, especially Mycobacteria. Inherited monogenic defects in this circuit that disrupt the production of, or response to, IFN-γ underlie a primary immunodeficiency known as Mendelian susceptibility to mycobacterial disease (MSMD). Otherwise healthy patients display a selective susceptibility to clinical disease caused by poorly virulent mycobacteria such as BCG (bacille Calmette-Guérin) vaccines and environmental mycobacteria, and more rarely by other intra-macrophagic pathogens, particularly Salmonella and M. tuberculosis. There is high genetic and allelic heterogeneity, with 19 genetic etiologies due to mutations in 10 genes that account for only about half of the patients reported. An efficient laboratory diagnostic approach to suspected MSMD patients is important, because it enables the establishment of specific therapeutic measures that will improve the patient's prognosis and quality of life. Moreover, it is essential to offer genetic counseling to affected families. Herein, we review the various genetic and immunological diagnostic approaches that can be used in concert to reach a molecular and cellular diagnosis in patients with MSMD.

7.
Pediatr Allergy Immunol ; 29(4): 425-432, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29532571

RESUMO

BACKGROUND: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently, there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success. METHODS: Clinical and radiological data were collected from patient's medical charts. Flow cytometry was performed to characterize the immunological features with special focus in regulatory T cells (Tregs). RESULTS: A 16-year-old girl with Kabuki syndrome and a 12-year-old boy, both with a CVID-like humoral immunodeficiency on immunoglobulin replacement treatment, developed during follow-up an inflammatory complication radiologically, clinically, and histologically compatible with GLILD. They required treatment, and sirolimus was started, with very good response and no serious side effects. CONCLUSIONS: These 2 cases provide insight into the underlying local and systemic immune anomalies involved in the development of GLILD, including the possible role of Tregs. Combined chemotherapy is commonly used as treatment for GLILD when steroids fail, but there have been some reports of successful monotherapy. As far as we know, these are the first 2 GLILD patients treated successfully with sirolimus, suggesting the advisability of further study of mTOR inhibitors as a more targeted treatment for GLILD, if impairment in Tregs is demonstrated.


Assuntos
Síndromes de Imunodeficiência/complicações , Imunossupressores/uso terapêutico , Doenças Pulmonares Intersticiais/tratamento farmacológico , Sirolimo/uso terapêutico , Linfócitos T Reguladores/metabolismo , Anormalidades Múltiplas/imunologia , Adolescente , Biomarcadores/metabolismo , Criança , Face/anormalidades , Feminino , Doenças Hematológicas/complicações , Doenças Hematológicas/imunologia , Humanos , Síndromes de Imunodeficiência/imunologia , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/imunologia , Masculino , Doenças Vestibulares/complicações , Doenças Vestibulares/imunologia
8.
Front Immunol ; 8: 1123, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28983301

RESUMO

BACKGROUND: Although anti-TNF-α monoclonal antibodies are considered safe during pregnancy, there are no studies on the development of the exposed-infant immune system. The objective was to study for the first time the impact of throughout pregnancy exposure to anti-TNF-α has an impact in the development of the infant's immune system, especially B cells and the IL-12/IFN-γ pathway. METHODS: Prospective study of infants born to mothers with inflammatory bowel disease treated throughout pregnancy with anti-TNF-α (adalimumab/infliximab). Infants were monitored both clinically and immunologically at birth and at 3, 6, 12, and 18 months. RESULTS: We included seven patients and eight healthy controls. Exposed infants had detectable levels of anti-TNF-α until 6 months of age; they presented a more immature B- and helper T-phenotype that normalized within 12 months, with normal immunoglobulin production and vaccine responses. A decreased Treg cell frequency at birth that inversely correlated with mother's peripartum anti-TNF-α levels was observed. Also, a decreased response after mycobacterial challenge was noted. Clinically, no serious infections occurred during follow-up. Four of seven had atopia. CONCLUSION: This study reveals changes in the immune system of infants exposed during pregnancy to anti-TNF-α. We hypothesize that a Treg decrease might facilitate hypersensitivity and that defects in IL-12/IFN-γ pathway might place the infant at risk of intracellular infections. Pediatricians should be aware of these changes. Although new studies are needed to confirm these results, our findings are especially relevant in view of a likely increase in the use of these drugs during pregnancy in the coming years.

9.
J Pediatr Hematol Oncol ; 39(7): 490-494, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28937520

RESUMO

BACKGROUND: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID). MATERIALS AND METHODS: Review of clinical charts and laboratory results of pediatric patients followed-up in the outpatient clinic of PID with a diagnosis of ES and humoral immunodeficiency. RESULTS: Three pediatric patients, a boy and 2 girls, presented with corticosteroid-dependent ES. In the diagnostic approach, autoimmune lymphoproliferative syndrome was ruled out, and during follow-up, patients showed laboratory signs of humoral immune deficiency and were diagnosed with CVID. After initiating the recommended treatment for CVID with AC, patients improved without new exacerbations. CONCLUSIONS: These cases highlight the importance of detection of possible PID in the context of ES and the establishment of CVID treatment to control AC.


Assuntos
Anemia Hemolítica Autoimune/imunologia , Imunodeficiência de Variável Comum/diagnóstico , Síndromes de Imunodeficiência/patologia , Trombocitopenia/imunologia , Síndrome Linfoproliferativa Autoimune , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/terapia , Diagnóstico Diferencial , Feminino , Humanos , Masculino
10.
Front Immunol ; 8: 201, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28326080

RESUMO

The newborn's immune system must transition from a sterile haploidentical uterus to the world full of antigens. Regulatory B-cells (Breg; broadly defined as CD19+CD24hiCD38hi) are tolerance promoters in the adult immune system. They can inhibit IFN-γ and IL-17 production by T-cells and are essential in different conditions, including pregnancy. Breg have still not been well characterized in umbilical cord blood, where we hypothesize that they are pivotal in the achievement of tolerance. We studied CD19+CD24hiCD38hi Breg in healthy umbilical cord blood (hUCB) compared to healthy peripheral adult blood (hAPB). Total numbers of Breg were increased in hUCB compared to hAPB (34.39 vs. 9.49%; p = 0.0002), especially in the marginal zone-like B-cell subset, in which the most marked difference could be observed between hUCB and hAPB (60.80 vs. 4.94%; p = 0.1). CD24hiCD38hi subset in hUCB produced IL-10 and inhibited T-cell IFN-γ [1.63 vs. 0.95 stimulation ratio (SR); p = 0.004] and IL-4 (1.63 vs. 1.44 SR; p = 0.39) production. Phenotypically, hUCB Breg cells presented IgMhiIgDhiCD5+CD10+CD27- markers, similar to those described in hAPB Breg cells, but they showed increased IgM concentration and decreased expression of CD22 and CD73 markers. Our work characterized the frequency, phenotype, and function of Breg in hUCB, which may contribute to understanding of immune tolerance during pregnancy, paving the way to a new approach to immune-related diseases in the fetus and the newborn.

11.
An. pediatr. (2003. Ed. impr.) ; 86(3): 110-114, mar. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-160627

RESUMO

Introducción. La tuberculosis (TB) en el adolescente puede presentar formas radiológicas cavitadas en los lóbulos superiores, con esputos bacilíferos, en lo que se ha llamado TB pulmonar tipo adulto, que implica un importante riesgo de contagio en el entorno social y familiar del paciente. Pacientes y métodos. Estudio observacional retrospectivo (2007-2012) en una serie pediátrica (<18 años) con TB en un hospital pediátrico de referencia en Barcelona. Se compara a los pacientes≤12 y>12 años. Resultados. Se incluyeron 124 pacientes (56,5% hombres, edad mediana: 4,0 años). En la mitad, la TB afectó a pacientes de origen inmigrante y se diagnosticó por sospecha clínico-radiológica. La TB intratorácica fue la forma clínica predominante (91,9%), los cultivos fueron positivos en un tercio de los casos (37,9%) y sensibles a los fármacos orales de primera línea en su totalidad. El tiempo mediano (rango intercuartil) de tratamiento fue de 6 (6-9) meses; solo 10 pacientes precisaron tratamiento directamente observado y la evolución fue satisfactoria en la mayoría (98,4%). Entre los adolescentes, la TB fue más prevalente en mujeres (63,2%) e inmigrantes (68,4%), la comorbilidad al diagnóstico y las formas pulmonares cavitadas fueron más comunes y se identificó el caso índice solo en el 21,1% de los pacientes. Conclusión. En el adolescente, la TB pulmonar tipo adulto es común, y a menudo asocia comorbilidad y se diagnostica más tarde, implicando un mayor riesgo de contagio a la comunidad (AU)


Introduction. Adolescents may present with adult-type pulmonary tuberculosis (TB), including cavity disease in upper lobes and smear-positive sputum, which involves a significant transmission risk for social and family contacts. Patients and methods. A retrospective (2007-2012) observational study of a case series of TB was conducted in children and adolescents (<18 years) in a paediatric referral centre in Barcelona. Patients aged≤12 and>12 years at diagnosis are compared. Results. The series consisted of 124 patients (56.5% males, median age: 4.0 years). In half of the cases, the patient was of immigrant origina and TB was diagnosed after clinical-radiological suspicion, intra-thoracic disease being the most common (91.9%). Cultures yielded positive results in one third of cases (37.9%) and isolates were sensitive to oral first-line anti-TB agents in 100%. Median (interquartile range) duration of treatment was 6 (6-9) months, directly observed therapy was needed in 10 patients, and there was a satisfactory outcome after treatment in 98.4%. Among adolescents, TB was more prevalent in females (63.2%) and immigrant patients (68.4%), comorbidity at diagnosis and lung cavity forms were more common, and the source case was identified only in 21.1% of the patients. Conclusion. Adult-type pulmonary TB is common among adolescents, may be associated with underlying medical conditions, and is often diagnosed late, posing a significant transmission risk to the community (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Tuberculose/epidemiologia , Tuberculose/prevenção & controle , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/prevenção & controle , Isoniazida/uso terapêutico , Rifampina/uso terapêutico , Período de Transmissibilidade , Estudos Retrospectivos , Comorbidade , Diagnóstico Precoce
12.
An Pediatr (Barc) ; 86(3): 110-114, 2017 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-27079844

RESUMO

INTRODUCTION: Adolescents may present with adult-type pulmonary tuberculosis (TB), including cavity disease in upper lobes and smear-positive sputum, which involves a significant transmission risk for social and family contacts. PATIENTS AND METHODS: A retrospective (2007-2012) observational study of a case series of TB was conducted in children and adolescents (<18 years) in a paediatric referral centre in Barcelona. Patients aged≤12 and>12 years at diagnosis are compared. RESULTS: The series consisted of 124 patients (56.5% males, median age: 4.0 years). In half of the cases, the patient was of immigrant origina and TB was diagnosed after clinical-radiological suspicion, intra-thoracic disease being the most common (91.9%). Cultures yielded positive results in one third of cases (37.9%) and isolates were sensitive to oral first-line anti-TB agents in 100%. Median (interquartile range) duration of treatment was 6 (6-9) months, directly observed therapy was needed in 10 patients, and there was a satisfactory outcome after treatment in 98.4%. Among adolescents, TB was more prevalent in females (63.2%) and immigrant patients (68.4%), comorbidity at diagnosis and lung cavity forms were more common, and the source case was identified only in 21.1% of the patients. CONCLUSION: Adult-type pulmonary TB is common among adolescents, may be associated with underlying medical conditions, and is often diagnosed late, posing a significant transmission risk to the community.


Assuntos
Tuberculose/prevenção & controle , Tuberculose/transmissão , Adolescente , Feminino , Humanos , Masculino , Saúde Pública , Estudos Retrospectivos , Espanha
13.
Pediatr Infect Dis J ; 36(2): e31-e37, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27832021

RESUMO

BACKGROUND: Metabolic syndrome (MetS) is more common in HIV-infected adults and children than in the general population. Adipocytokines and inflammatory markers may contribute to the pathophysiology of this condition and could be useful indices for monitoring MetS. The objective of this study was to provide information on the prevalence of MetS and investigate the role of adipocytokines and other biomarkers in this syndrome in HIV-infected pediatric patients. METHODS: A cross-sectional study was conducted between October 2013 and March 2014 in the outpatient clinics of 2 tertiary pediatric referral hospitals. Fifty-four HIV-infected children and adolescents were included. MetS was defined according to the International Diabetes Federation and modified National Cholesterol Education Program Adult Treatment Panel III criteria. Measurements included anthropometry, waist circumference, blood pressure, fasting lipids, glucose and insulin, adiponectin, leptin, interleukin-6, vitamin D and C-reactive protein and clinical lipodystrophy assessment. RESULTS: Among the total, 3.7% of patients met the International Diabetes Federation criteria for MetS and 7.4% met the National Cholesterol Education Program Adult Treatment Panel III criteria. C-reactive protein and leptin levels were significantly higher and adiponectin level significantly lower in patients with MetS, regardless of the criteria used. Insulin resistance was observed in 40.7% of patients; abnormal quantitative insulin sensitivity check index values were found in 88.9%. Eighteen patients (33.3%) had vitamin D deficiency. CONCLUSIONS: The prevalence of MetS was similar to that observed in larger cohorts of HIV-infected patients in our setting. Adipocytokine dysregulation seems to be related to MetS in HIV-infected children. A high percentage of patients showed insulin resistance, which should be strictly monitored.


Assuntos
Adiponectina/sangue , Biomarcadores/sangue , Síndrome de Lipodistrofia Associada ao HIV/complicações , Leptina/sangue , Síndrome Metabólica/etiologia , Síndrome Metabólica/metabolismo , Adolescente , Criança , Estudos Transversais , Feminino , Síndrome de Lipodistrofia Associada ao HIV/epidemiologia , Humanos , Resistência à Insulina , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/epidemiologia , Fatores de Risco , Espanha/epidemiologia , Deficiência de Vitamina D
15.
Pediatr Infect Dis J ; 35(2): 196-200, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26479972

RESUMO

BACKGROUND: Renal disease is a leading cause of morbidity in HIV-infected adults in the highly active antiretroviral therapy (HAART) era. Cystatin C has been proposed as a more sensitive marker of renal function, but it may be affected by ongoing inflammation. We aimed to study the cystatin C levels in a cohort of HIV-infected pediatric patients at 3 Spanish centers. METHODS: This is a multicenter cross-sectional observational study. Renal function was assessed by means of first morning urine protein/creatinine and albumin/creatinine ratios and creatinine-estimated glomerular filtration rates (GFRs), together with the following inflammation markers: cystatin C, reactive C protein, ß-2-microglobulin and 25(OH)-vitamin D levels. A control group of healthy children and adolescents was used. RESULTS: Eighty-three patients (51 females, median age: 13.3 years; 32 males, median age: 13.6 years) and 44 controls (24 females, median age: 12.2 years; 20 males, median age: 10.9 years) were included. Among the former, mean CD4 cell count was 860/mm, 29(35%) patients had a previous AIDS diagnosis, 73(88%) were on HAART and HIV viremia was undetectable in 61(73%). No differences in cystatin C levels were observed between the 2 groups. In HIV-infected patients, cystatin C levels correlated with GFR (r = -0.27; P = 0.01), age at first HAART (r = -0.21; P = 0.05), and ß-2-microglobulin (r = 0.569; P < 0.01). In multivariate analysis, lower GFR (P = 0.014) and higher ß-2-microglobulin levels (P = 0.001) remained as independent risk factors for higher cystatin C values. CONCLUSIONS: Cystatin C values were associated with GFR and ß-2-microglobulin. Cystatin C may be useful as a marker of renal function in HIV-infected pediatric patients, independently of ongoing inflammation or viremia.


Assuntos
Biomarcadores/sangue , Cistatina C/sangue , Infecções por HIV/complicações , Infecções por HIV/patologia , Inflamação/patologia , Nefropatias/diagnóstico , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Testes de Função Renal , Masculino , Espanha , Microglobulina beta-2/sangue
16.
Pediatr Infect Dis J ; 34(5 Suppl 1): S36-43, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25629891

RESUMO

Worldwide, the benefits of combined antiretroviral (ARV) therapy in morbidity and mortality due to perinatally acquired human immunodeficiency virus infection are beyond question and outweigh the toxicity these drugs have been associated with in HIV-infected children and adolescents to date. In puberty, abnormal body fat distribution is stigmatizating and leads to low adherence to ARV treatment. The other metabolic comorbidities (mitochondrial toxicity, dyslipidemias, insulin resistance and low bone mineral density) and renal toxicity, albeit nonsymptomatic in most children, are increasingly being reported and potentially put this population at risk for early cardiovascular or cerebrovascular atherosclerotic disease, diabetes, pathologic fractures or premature renal failure in the third and fourth decades of life. Evidence from available studies is limited because of methodological limitations and also because of several HIV-unrelated factors influencing, to some degree, the development of these conditions. Current recommendations for the prevention, diagnosis, monitoring and treatment of metabolic and renal adverse effects in HIV-children and adolescents are based on adult studies, observational pediatric studies and experts' consensus. Healthy lifestyle habits (regarding diet, exercise and refraining from toxic substances) and wise use of ARV options are the only preventive tools for the majority of patients. Should abnormal findings arise, switches in one or more ARV drugs have proved useful. Specific therapies are also available for some of these comorbidities, although the experience in the pediatric age is still very scarce. We aim to summarize the epidemiological, clinical and therapeutic aspects of metabolic and renal adverse effects in vertically HIV-infected children and adolescents.


Assuntos
Fármacos Anti-HIV/efeitos adversos , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Infecções por HIV/tratamento farmacológico , Nefropatias/induzido quimicamente , Doenças Metabólicas/induzido quimicamente , Adolescente , Criança , Humanos , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/metabolismo
17.
Pediatr Nephrol ; 29(9): 1561-6, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24733585

RESUMO

BACKGROUND: In HIV-infected adults, elevated albumin has been associated with increased inflammatory activity, HIV-related nephropathy, and type 2 diabetes. Data on albuminuria in HIV-infected children are very scarce, and guidelines do not include routine determination of urinary albumin/creatinine ratio in this population. METHODS: We performed a cross-sectional study in a cohort of HIV-infected pediatric patients. Urinary protein/creatinine and albumin/creatinine ratios and hematuria were determined from at least three morning urine samples, and glomerular filtration rate (GFR) was estimated from creatinine levels. Persistent renal damage was defined according to the presence of at least two sequentially abnormal values in one of the parameters. The relationship between renal damage, HIV-related variables, and metabolic comorbidities (dyslipidemia, fat redistribution, glucose intolerance, hypertension) was investigated. RESULTS: Symptom-free renal damage was observed in 13 of 68 patients (19.1%) and mainly consisted of persistent proteinuria (17.6%); glomerular proteinuria was twice as prevalent as tubular proteinuria. GFR were normal in all cases. No relationship between renal markers and HIV-related variables or metabolic comorbidities was observed. CONCLUSIONS: Mild proteinuria affected approximately one fifth of patients in our cohort. The determination of albuminuria allowed the differentiation between glomerular and tubular proteinuria, although no relationship with metabolic comorbidities was observed.


Assuntos
Nefropatia Associada a AIDS/epidemiologia , Nefropatia Associada a AIDS/fisiopatologia , Albuminúria/etiologia , Nefropatia Associada a AIDS/complicações , Adolescente , Albuminúria/epidemiologia , Criança , Estudos de Coortes , Estudos Transversais , Feminino , Taxa de Filtração Glomerular , Infecções por HIV/complicações , Humanos , Masculino , Proteinúria/epidemiologia , Proteinúria/etiologia
18.
Rev. neurol. (Ed. impr.) ; 56(7): 353-358, 1 abr., 2013. tab
Artigo em Espanhol | IBECS | ID: ibc-110976

RESUMO

Introducción. Se han relacionado las convulsiones febriles atípicas (CFA) con una mayor incidencia de patología grave del sistema nervioso central (SNC). Estudios recientes muestran una disminución de la prevalencia de algunas de estas enfermedades, hecho que podría modificar su manejo. Objetivos. Determinar la prevalencia de patología grave del SNC en pacientes atendidos en urgencias por CFA y detectar diferencias con los pacientes con CFA no asociada a patología grave. Pacientes y métodos. Estudio retrospectivo mediante revisión de historias clínicas de los pacientes con diagnóstico de CFA entre noviembre de 2008 y noviembre de 2011. Resultados. Se incluyen 231 episodios de CFA (223 pacientes), con una edad media de 1,7 años (p25-75 = 1,2-2,3 años), 133 (57,6%) de los cuales eran varones. Doce pacientes (5,2%; IC 95% = 2,7-8,9) recibieron el diagnóstico de patología grave del SNC. En los pacientes con patología grave del SNC, la CFA es en la mayoría de las ocasiones el primer episodio (91,7% frente a 63%; p = 0,036), presenta más de un criterio diagnóstico (50% frente a 15,1%; p = 0,007), es más frecuente la convulsión focal (50% frente a 12,8%; p = 0,003) o el estado epiléptico (25% frente a 5,9%; p = 0,041) y los pacientes presentan alteración de la consciencia persistente posterior al episodio (66,7% frente a 31,5%; p = 0,002). Conclusiones. Dado que la prevalencia de patología grave del SNC en pacientes con CFA es baja, no se recomienda la realización rutinaria de pruebas complementarias ni el ingreso. Determinadas características del episodio aumentan la probabilidad de que la CFA sea la manifestación de una patología grave del SNC (ser un primer episodio, presentar más de un criterio diagnóstico de CFA y tratarse de una convulsión focal o estado epiléptico), por lo que deberían tenerse en cuenta en el manejo del paciente (AU)


Introduction. Atypical febrile seizures (AFS) have been related with a higher incidence of severe pathologies of the central nervous system (CNS). Recent studies show a reduction in the prevalence of some of these diseases, a fact that could affect their management. Aims. To determine the prevalence of severe pathologies of the CNS in patients treated for AFS in A&E departments and to detect any differences between these and patients suffering from AFS that is not associated to any severe pathology. Patients and methods. A retrospective study was conducted by reviewing the medical records of patients diagnosed with AFS between November 2008 and November 2011. Results. Altogether, the sample consisted of 231 episodes of AFS (223 patients), with an average age of 1.7 years (p25-75 = 1.2-2.3 years), 133 (57.6%) of whom were males. Twelve patients (5.2%; 95% CI = 2.7-8.9) were diagnosed with a severe pathology of the CNS. In patients with a severe pathology of the CNS, AFS is on most occasions the first episode (91.7% versus 63%; p = 0.036) and more than one diagnostic criterion is present (50% versus 15.1%; p = 0.007). Moreover, focal seizures (50% versus 12.8%; p = 0.003) or epileptic status (25% versus 5.9%; p = 0.041) are more common, and patients present altered levels of awareness that persist after the episode (66.7% versus 31.5%; p = 0.002). Conclusions. Given the fact that the prevalence of severe pathology of the CNS in patients with AFS is low, carrying out complementary tests or admission to hospital on a routine basis are not recommended. Certain characteristics of the episode increase the likelihood of AFS being the manifestation of a severe pathology of the CNS (being a first episode, presenting more than one diagnostic criterion for AFS and being a focal seizure or epileptic status), and should therefore be taken into account in the management of the patient (AU)


Assuntos
Humanos , Tratamento de Emergência/métodos , Convulsões Febris/diagnóstico , Encefalite/diagnóstico , Meningite/diagnóstico , Serviços Médicos de Emergência/métodos , Atenção Terciária à Saúde , Diagnóstico Diferencial , Fatores de Risco
19.
Rev Neurol ; 56(7): 353-8, 2013 Apr 01.
Artigo em Espanhol | MEDLINE | ID: mdl-23520003

RESUMO

INTRODUCTION: Atypical febrile seizures (AFS) have been related with a higher incidence of severe pathologies of the central nervous system (CNS). Recent studies show a reduction in the prevalence of some of these diseases, a fact that could affect their management. AIMS. To determine the prevalence of severe pathologies of the CNS in patients treated for AFS in A and E departments and to detect any differences between these and patients suffering from AFS that is not associated to any severe pathology. PATIENTS AND METHODS: A retrospective study was conducted by reviewing the medical records of patients diagnosed with AFS between November 2008 and November 2011. RESULTS: Altogether, the sample consisted of 231 episodes of AFS (223 patients), with an average age of 1.7 years (p25-75=1.2-2.3 years), 133 (57.6%) of whom were males. Twelve patients (5.2%; 95% CI=2.7-8.9) were diagnosed with a severe pathology of the CNS. In patients with a severe pathology of the CNS, AFS is on most occasions the first episode (91.7% versus 63%; p=0.036) and more than one diagnostic criterion is present (50% versus 15.1%; p=0.007). Moreover, focal seizures (50% versus 12.8%; p=0.003) or epileptic status (25% versus 5.9%; p=0.041) are more common, and patients present altered levels of awareness that persist after the episode (66.7% versus 31.5%; p=0.002). CONCLUSIONS: Given the fact that the prevalence of severe pathology of the CNS in patients with AFS is low, carrying out complementary tests or admission to hospital on a routine basis are not recommended. Certain characteristics of the episode increase the likelihood of AFS being the manifestation of a severe pathology of the CNS (being a first episode, presenting more than one diagnostic criterion for AFS and being a focal seizure or epileptic status), and should therefore be taken into account in the management of the patient.


Assuntos
Encefalopatias/diagnóstico , Serviço Hospitalar de Emergência , Convulsões Febris/diagnóstico , Encefalopatias/complicações , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/diagnóstico , Testes Diagnósticos de Rotina/estatística & dados numéricos , Encefalite/complicações , Encefalite/diagnóstico , Feminino , Humanos , Lactente , Masculino , Centros de Saúde Materno-Infantil/estatística & dados numéricos , Exame Neurológico/estatística & dados numéricos , Admissão do Paciente , Estudos Retrospectivos , Convulsões/diagnóstico , Convulsões/etiologia , Convulsões Febris/etiologia , Espanha , Punção Espinal/estatística & dados numéricos , Estado Epiléptico/diagnóstico , Estado Epiléptico/etiologia , Centros de Atenção Terciária/estatística & dados numéricos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico
20.
Pediatr. catalan ; 71(2): 70-72, abr.-jun. 2011. ilus
Artigo em Espanhol | IBECS | ID: ibc-89881

RESUMO

Introducción. El bloqueo cardíaco auriculoventricular (BAV) completo en la infancia es una entidad poco frecuente pero potencialmente grave. La etiología más frecuente es la congénita, aunque también se puede presentar de forma adquirida. Hay pocos casos en la literatura de pacientes en edad pediátrica afectos de BAV como primera manifestación de una miocarditis aguda y en la cual se encuentre Mycoplasma pneumoniae como agente etiológico. También son escasas las publicaciones de pacientes pediátricos con esta patología tratados con marcapasos endocavitario. Caso clínico. Niño de 8 años de edad que presenta un episodio comicial e inestabilidad hemodinámica. El paciente es diagnosticado de BAV completo secundario a miocarditis aguda por Mycoplasma pneumoniae. Recibió tratamiento con corticoides, gammaglobulina intravenosa e infusión continua de isoproterenol endovenoso sin obtener respuesta, requiriendo la colocación de un marcapasos endocavitario temporal hasta la recuperación del ritmo sinusal. Comentarios. Determinados autoanticuerpos parece que tienen un papel fundamental en la fisiopatología de la miocarditis aguda. La infección por distintos gérmenes parece actuar como desencadenante de la respuesta autoinmune. De esta forma, parece coherente utilizar un tratamiento inmunosupresor o con gammaglobulinas, aunque no se puede recomendar su uso de forma rutinaria. En cuanto al BAV, puede ser necesario implantar un marcapasos endocavitario en espera de la restitución del ritmo sinusal(AU)


Introduction. Complete atriventricular block (CAB) is a rare but serious condition in children. It is usually congenital, but an acquired form is also well described. The literature on pediatric patients with CAB secondary to Mycoplasma pneumoniae myocarditis is scarce. Moreover, information on the use of an endocavitary pacemaker for children with CAB is very limited. Case Report. An 8-yo boy presented with a generalized tonic-clonic seizure and hemodynamic instability. He was diagnosed with CAB secondary to myocarditis caused by Mycoplasma pneumoniae. He was initially treated with steroids, intravenous immunoglobulins, and continuous infusion isoproterenol with no response, and required the placement of a temporary endocavitary pacemaker until sinus rhythm was recovered. Comments. Specific antibodies play a major role in the pathophysiology of acute myocarditis; infection by different agents could be the trigger of that immune response. The administration of intravenous immunoglobulin therapy for immunomodulation may have a role, although its routine use cannot be recommended. The use of an endocavitary pacemaker may be required until recovery of sinus rhythm(AU)


Assuntos
Humanos , Masculino , Criança , Bloqueio Cardíaco/complicações , Bloqueio Cardíaco/etiologia , Mycoplasma pneumoniae/isolamento & purificação , Mycoplasma pneumoniae/patogenicidade , Marca-Passo Artificial/tendências , Marca-Passo Artificial , Corticosteroides/uso terapêutico , Isoproterenol/uso terapêutico , Miocardite/fisiopatologia , Imunossupressores/uso terapêutico , Bloqueio Cardíaco , Miocardite/complicações , Bloqueio Cardíaco/congênito , Miocardite/diagnóstico
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