RESUMO
BACKGROUND: The aim of this study is to present the current views of a diverse group of experts on the diagnosis and treatment of Cow's Milk Protein Allergy (CMPA) in children under 2 years of age in Mexico. MATERIAL AND METHODS: The study, led by a scientific committee of five experts in CMPA, was divided into six phases, including a modified Delphi process. A total of 20 panelists, all of whom were pediatric specialists, participated in administering a comprehensive 38-item questionnaire. The questionnaire was divided into two blocks: Diagnosis and Treatment (20 items each). RESULTS: Consensus was reached on all the proposed items, with an agreement rate of over 70% for each of them. As a result, a diagnostic and treatment algorithm was developed that emphasized the reduction of unnecessary diagnostic studies and encouraged breastfeeding whenever possible. In cases where breast milk is not available, appropriate use of hypoallergenic formulas was recommended. In addition, recommendations on treatment duration and gradual reintroduction of cow's milk protein were provided. CONCLUSIONS: The recommendations endorsed by 20 Mexican pediatricians through this study are applicable to everyday clinical practice, thereby enhancing the diagnosis and treatment of children under 2 years of age with CMPA. This, in turn, will foster improved health outcomes and optimize the utilization of healthcare resources.
Assuntos
Hipersensibilidade a Leite , Feminino , Criança , Animais , Bovinos , Humanos , Lactente , Hipersensibilidade a Leite/diagnóstico , Hipersensibilidade a Leite/terapia , Consenso , México , Algoritmos , Leite HumanoRESUMO
Introduction: Introduction: currently, various tools have been designed to timely detect the risk of malnutrition in hospitalized children. In those with a diagnosis of congenital heart disease (CHD), there is only one tool developed in Canada: Infant Malnutrition and Feeding Checklist for Congenital Heart Disease (IMFC:CHD), which was designed in English. Objective: to evaluate the validity and reliability of the Spanish adaptation of the IMFC:CHD tool in infants with CHD. Methods: cross-sectional validation study carried out in two stages. The first, of translation and cross-cultural adaptation of the tool, and the second, of validation of the new translated tool, where evidence of reliability and validity were obtained. Results: in the first stage, the tool was translated and adapted to the Spanish language; for the second stage, 24 infants diagnosed with CHD were included. The concurrent criterion validity between the screening tool and the anthropometric evaluation was evaluated, obtaining a substantial agreement (κ = 0.660, 95 % CI: 0.36-0.95) and for the predictive criterion validity, which was compared with the days of hospital stay, moderate agreement was obtained (κ = 0.489, 95 % CI: 0.1-0.8). The reliability of the tool was evaluated through external consistency, measuring the inter-observer agreement, obtaining a substantial agreement (κ = 0.789, 95 % CI: 0.5-0.9), and the reproducibility of the tool showed an almost perfect agreement (κ = 1, CI 95 %: 0.9-1.0). Conclusions: the IMFC:CHD tool showed adequate validity and reliability, and could be considered as a useful resource for the identification of severe malnutrition.
Introducción: Introducción: actualmente, se han diseñado diversas herramientas para detectar oportunamente el riesgo de desnutrición en niños hospitalizados. En aquellos con diagnóstico de cardiopatías congénitas (CC), solo existe una herramienta desarrollada en Canadá, llamada Infant Malnutrition and Feeding Checklist for Congenital Heart Disease (IMFC:CHD), la cual fue diseñada en idioma inglés. Objetivo: evaluar la validez y confiabilidad de la adaptación en español de la herramienta IMFC:CHD en lactantes con CC. Métodos: estudio transversal de validación realizado en dos etapas: la primera, de traducción y adaptación transcultural de la herramienta; y la segunda, de validación de la nueva herramienta traducida, donde se obtuvieron las evidencias de confiabilidad y validez. Resultados: en la primera etapa se obtuvo la herramienta traducida y adaptada al idioma español; para la segunda etapa se incluyeron 24 lactantes con diagnóstico de CC. Se evaluó la validez de criterio concurrente entre la herramienta de tamizaje y la evaluación antropométrica, obteniéndose un acuerdo sustancial (κ = 0,660, IC 95 %: 0,36-0,95). Para la validez de criterio predictiva, la cual fue comparada con los días de estancia hospitalaria, se obtuvo un acuerdo moderado (κ = 0,489, IC 95 %: 0,1-0,8). La confiabilidad de la herramienta se evaluó mediante consistencia externa, midiendo la concordancia interobservador, y se obtuvo un acuerdo sustancial (κ = 0,789, IC 95 %: 0,5-0,9); la reproducibilidad de la herramienta mostró un acuerdo casi perfecto (κ = 1, IC 95 %: 0,9-1,0). Conclusiones: la herramienta IMFC:CHD mostró una adecuada validez y confiabilidad, por lo que podría considerarse un recurso útil para la identificación de desnutrición grave.
Assuntos
Cardiopatias Congênitas , Transtornos da Nutrição do Lactente , Desnutrição , Criança , Humanos , Lactente , Reprodutibilidade dos Testes , Lista de Checagem , Estudos Transversais , Avaliação Nutricional , Desnutrição/diagnóstico , Desnutrição/etiologia , Transtornos da Nutrição do Lactente/diagnóstico , Cardiopatias Congênitas/complicaçõesRESUMO
BACKGROUND: Epidermolysis bullosa (EB) is a genodermatosis caused by mutations in the proteins of the dermal-epidermal junction, altering the epithelial cohesion, and generating blisters and shedding of skin and mucous membranes. OBJECTIVE: To describe the demographic and clinical characteristics, as well as the main complications of patients with EB attended at the National Institute of Pediatrics, in Mexico City. METHOD: An observational, descriptive, retrospective and cross-sectional study was conducted in patients under 18 years of age with diagnosis of EB. Patients with incomplete, purged or archived records were excluded. RESULTS: We included 35 patients, 17 men and 18 women with an average age of 8.94 ± 4.9 years. Patients were classified as dystrophic EB (71.4%), EB simplex (17%), junctional EB (2.9%) and Kindler syndrome (2.9%). All patients presented skin manifestations, followed by manifestations in oral mucosa (74.3%), nutritional (54.2%), gastrointestinal (51.4%), hematological (40%), ophthalmological (37.1%), musculoskeletal (34.2%) and psychosocial symptoms (34.2%). The degree of severity was variable according to the subtype; junctional EB and dystrophic EB are those that generate greater affection and comorbidity. CONCLUSIONS: EB is a serious multisystem genetic disease, which is why it requires an early diagnosis and a timely detection of complications.
INTRODUCCIÓN: La epidermólisis ampollosa (EA) es una genodermatosis causada por mutaciones en proteínas de la unión dermoepidérmica que alteran la cohesión epitelial y generan ampollas y desprendimiento de piel y mucosas. OBJETIVO: Describir las características demográficas y clínicas, así como las principales complicaciones, de los pacientes con EA atendidos en el Instituto Nacional de Pediatría, en Ciudad de México. MÉTODO: Se realizó un estudio observacional, descriptivo, retrospectivo y transversal en pacientes menores de 18 años con diagnóstico de EA. Se excluyeron los pacientes con expedientes incompletos, depurados o archivados. RESULTADOS: Se incluyeron 35 pacientes, 17 hombres y 18 mujeres, con edad media de 8.94 años (desviación estándar: 4.9), que se clasificaron como EA distrófica (71.4%), EA simple (17%), EA de unión (2.9%) o síndrome de Kindler (2.9%). Todos los pacientes presentaron manifestaciones en la piel, seguidas por manifestaciones en la mucosa oral (74.3%), nutricionales (54.2%), gastrointestinales (51.4%), hematológicas (40%), oftalmológicas (37.1%), musculoesqueléticas (34.2%) y psicosociales (34.2%). La gravedad fue variable de acuerdo con el subtipo; la EA de unión y la EA distrófica son las que generan mayor afectación y comorbilidad. CONCLUSIONES: La EA es una enfermedad genética multisistémica grave, por lo que es fundamental su diagnóstico temprano y la detección oportuna de complicaciones.
RESUMO
BACKGROUND: Women's reproductive potential is closely related to nutritional status. Some of the molecules that participate in ovarian regulation are produced in the adipose tissue, and therefore their production is associated with adiposity. OBJECTIVE: To determine serum leptin, adiponectin, C-reactive protein, interleukin-6, and tumor necrosis factor alpha in infertile women with or without insulin resistance; and to associate these molecules with adiposity. METHODS: Thirty-one infertile women were included. Nutritional status was evaluated through clinical and biochemical parameters. Patients were stratified according with their body mass index and the presence of insulin resistance. For statistics, parametric analyses were conducted. RESULTS: The prevalence of overweight was 67.5%; high adiposity was present in 92.3% and central distribution of fat in 96.2% of studied women. Hypercholesterolemia was found in 32.3% of patients, hypertriglyceridemia in 25.8%, and 61.3% presented hyperinsulinemia. Overweight women presented lower adiponectin, and higher TNF-alpha and C-reactive protein concentrations, than those with normal body mass index (p < 0.05). Overweight women had also a higher probability for insulin resistance (p = 0.04). These women with insulin resistance presented lower adiponectin and higher C-reactive protein concentrations than non insulin resistance women. Body mass index correlated with leptin (r= 0.41), TNF-alpha (r= 0.41), and C-reactive protein (r= 0.33) concentrations. CONCLUSION: The prevalence of overweight, high adiposity, dislipidemias, and IR was high in our population studied. We conclude that adiposity is closely associated with some of the molecules that participate in the reproductive process and that also regulate inflammatory responses.
Assuntos
Adiponectina/sangue , Proteína C-Reativa/análise , Infertilidade Feminina/sangue , Infertilidade Feminina/metabolismo , Resistência à Insulina , Interleucina-6/sangue , Leptina/sangue , Fator de Necrose Tumoral alfa/sangue , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Adulto JovemRESUMO
Although there are many human hereditary neuropathies, most of them with the exception of Charcot-Marie-Tooth disease or hereditary sensorimotor neuropathy, are rare. Irrespective of their type, the mode of transmission may be autosomal dominant or recessive, or X-linked. The most difficult to diagnose, however, are the sporadic forms. It is customary to distinguish the cases in which the neuropathy is the sole clinical expression from multisystemic diseases where neuropathy is one component of multi-organ involvement. The complexity and the multiplicity of genes involved and the lack of understanding of their exact functions hinder logical presentation of these hereditary neuropathies. For understandable technical reasons, the stage of specific treatment, namely the repair of the mutated gene, has yet to be attained.
Assuntos
Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatias Amiloides Familiares/diagnóstico , Axônios/fisiologia , Doença de Charcot-Marie-Tooth/classificação , Doença de Charcot-Marie-Tooth/diagnóstico , Cromossomos Humanos X/genética , Doenças Desmielinizantes/genética , Doença de Fabry/diagnóstico , Genes Dominantes/genética , Genes Recessivos/genética , Humanos , Porfirias/diagnósticoRESUMO
Introducción: actualmente, se han diseñado diversas herramientas para detectar oportunamente el riesgo de desnutrición en niños hospitalizados. En aquellos con diagnóstico de cardiopatías congénitas (CC), solo existe una herramienta desarrollada en Canadá, llamada Infant Malnutrition and Feeding Checklist for Congenital Heart Disease (IMFC:CHD), la cual fue diseñada en idioma inglés. Objetivo: evaluar la validez y confiabilidad de la adaptación en español de la herramienta IMFC:CHD en lactantes con CC. Métodos: estudio transversal de validación realizado en dos etapas: la primera, de traducción y adaptación transcultural de la herramienta; y la segunda, de validación de la nueva herramienta traducida, donde se obtuvieron las evidencias de confiabilidad y validez. Resultados: en la primera etapa se obtuvo la herramienta traducida y adaptada al idioma español; para la segunda etapa se incluyeron 24 lactantes con diagnóstico de CC. Se evaluó la validez de criterio concurrente entre la herramienta de tamizaje y la evaluación antropométrica, obteniéndose un acuerdo sustancial (κ = 0,660, IC 95 %: 0,36-0,95). Para la validez de criterio predictiva, la cual fue comparada con los días de estancia hospitalaria, se obtuvo un acuerdo moderado (κ = 0,489, IC 95 %: 0,1-0,8). La confiabilidad de la herramienta se evaluó mediante consistencia externa, midiendo la concordancia interobservador, y se obtuvo un acuerdo sustancial (κ = 0,789, IC 95 %: 0,5-0,9); la reproducibilidad de la herramienta mostró un acuerdo casi perfecto (κ = 1, IC 95 %: 0,9-1,0). Conclusiones: la herramienta IMFC:CHD mostró una adecuada validez y confiabilidad, por lo que podría considerarse un recurso útil para la identificación de desnutrición grave. (AU)
Introduction: currently, various tools have been designed to timely detect the risk of malnutrition in hospitalized children. In those with a diagnosis of congenital heart disease (CHD), there is only one tool developed in Canada: Infant Malnutrition and Feeding Checklist for Congenital Heart Disease (IMFC:CHD), which was designed in English. Objective: to evaluate the validity and reliability of the Spanish adaptation of the IMFC:CHD tool in infants with CHD. Methods: cross-sectional validation study carried out in two stages. The first, of translation and cross-cultural adaptation of the tool, and the second, of validation of the new translated tool, where evidence of reliability and validity were obtained. Results: in the first stage, the tool was translated and adapted to the Spanish language; for the second stage, 24 infants diagnosed with CHD were included. The concurrent criterion validity between the screening tool and the anthropometric evaluation was evaluated, obtaining a substantial agreement (κ = 0.660, 95 % CI: 0.36-0.95) and for the predictive criterion validity, which was compared with the days of hospital stay, moderate agreement was obtained (κ = 0.489, 95 % CI: 0.1-0.8). The reliability of the tool was evaluated through external consistency, measuring theinter-observer agreement, obtaining a substantial agreement (κ = 0.789, 95 % CI: 0.5-0.9), and the reproducibility of the tool showed an almost perfect agreement (κ = 1, CI 95 %: 0.9-1.0). Conclusions: the IMFC:CHD tool showed adequate validity and reliability, and could be considered as a useful resource for the identification of severe malnutrition. (AU)
Assuntos
Humanos , Masculino , Feminino , Lactente , Transtornos da Nutrição do Lactente , Cardiopatias Congênitas , Estudos Transversais , Epidemiologia Descritiva , México , Avaliação NutricionalRESUMO
Epidermolysis bullosa (EB) is a genetic disorder with con-tinuous formation of blisters and erosions in the skin and mu-cous membranes as well as multi-systemic involvement.Patients are at high-risk of malnutrition due to decreased foodintake and increased nutrient demand. This cross-sectionalretrospective study evaluated the daily caloric intake and nu-tritional status of pediatric patients with EB at a specializedclinic through anthropometric measurements and estimationof the daily intake by 24-hour dietary recall. We used the Waterlow and World Health Organization (WHO) malnutritionclassification schemes. Descriptive statistics were used. Weincluded 17 patients with a mean age of 8.4 years (SD 4.6),82.3% had malnutrition. Those with more severe subtypes,junctional and recessive dystrophic EB, had acute superim-posed on chronic malnutrition (100% and 63.4% respec-tively), wasting (100% and 72.6%), and stunting (0% and54.4%) more frequently. Most patients required supplemen-tation (caloric 76.4% and vitamin/mineral 100%). We concluded that there is a high frequency of malnutritionin our EB patients. Although their energy requirements is cal-culated to be increased in 100-150% of the estimate, our pa-tients only reach 73.1% of that, thus requiring supplementa-tion. Patients with more severe subtypes of EB had chronicmalnutrition more frequently. Even though malnutrition isclosely linked to wound healing and adequate growth and de-velopment of patients, there are few studies about nutritionin EB worldwide. We believe evaluating the nutritional status of these patients is the first step to identifying deficiencies, of-fering adequate comprehensive medical care and establishingnutritional interventions in a timely manner.(AU)
Assuntos
Humanos , Criança , Estudos Retrospectivos , Estudos Transversais , Epidermólise Bolhosa , Doenças Genéticas Inatas , Mucosa , Pele/lesões , Anormalidades da Pele , Dermatopatias , Nutrientes , Serviço Hospitalar de Nutrição , 52503 , Análise de Alimentos , Educação Alimentar e NutricionalRESUMO
La atrofia muscular espinal y bulbar es una enfermedad neurológica caracterizada por degeneración gradual de la motoneurona inferior, que resulta en debilidad muscular, atrofia y fasciculaciones. Es una entidad de etiología genética con mecanismo de herencia ligado al cromosoma X recesivo, por lo que afecta a varones, en la que se produce una expansión del triplete CAGn en el gen del receptor de andrógenos. Se manifiesta por signos de insensibilidad a los andrógenos (ginecomastia e infertilidad). A partir de los 20-30 años, aproximadamente, comienzan los signos de afectación de la motoneurona inferior a nivel espinal con calambres y temblor de acción y posteriormente debilidad muscular. En la evolución se evidencia compromiso bulbar. Se presenta el caso clínico-genealógico de un varón de 32 años con temblores en quien se confirma molecularmente la enfermedad de Kennedy. Este es el primer caso, hasta nuestro conocimiento, reportado en Uruguay. Se destaca la importancia de plantear dicha afección en un paciente joven con "temblores" cuando aún no es ostensible la debilidad muscular. La historia familiar es de capital importancia. La presencia de fasciculaciones en el estudio eléctrico a nivel perioral es muy sugestiva de esta patología. La confirmación molecular es importante para el asesoramiento genético.
Spinal and bulbar muscular atrophy (SBMA) is a neurological disease characterized by the progressive degeneration of the inferior motor neurones, what results in muscle weakness, atrophy and fasciculations. It possesses a genetic etiology with X-linked recessive inheritance mode, and thus affects men. There is an abnormal expansion of the CAG polyglutamine encoding repeat within the androgen receptor gene. It is noticed by signs of androgen insentistivity (gynecomastia and infertility). At 20-30 years old approximately signs of compromise of the lower motor neurones in the spine are seen in cramps and action tremor followed by muscle weakness, evidencing bulbar involvement in the evolution. The study presents the ciínical-genealogical case of a 32 year-old male with tremor, whose Kennedy disease was confirmed with molecules. This is the first case reported in Uruguay as far as we know. The importance of considering this condition is pointed out in a young patient with "tremor" when muscle weakness is not evident yet. Family history is key. The presence of fasciculation in the electrical study strongly suggests this condition. Molecular confirmation is important for genetic advice purposes.
A atrofia muscular bulbo-espinal (BSMA) é uma doença neurológica caracterizada pela degeneração gradual do neurônio motor inferior causando fraqueza muscular, atrofia e fasciculações. É uma entidade de etiologia genética com mecanismo de herança ligada ao cromossoma X recessivo, afetando por isso a indivíduos do sexo masculino, nos quais se observa a expansão do triplete CAGn no gene do Receptor de Andrógenos (RA). Manifesta-se pela ausência de sensibilidade aos andrógenos (ginecomastia e infertilidade); a partir dos 20-30 anos aproximadamente começam a manifestar-se os sinais de afetação do neurônio motor inferior na região espinal com câimbras e tremor de ação e posteriormente debilidade muscular. Em sua evolução observa-se compromisso bulbar. Apresenta-se o caso clínico - genealógico de um indivíduo de sexo masculino de 32 anos com tremores, no qual foi realizado diagnóstico molecular de doença de Kennedy. Este é o primeiro caso informado no Uruguai, que seja de nosso conhecimento. Destaca-se a importância da suspeita desta afecção em um paciente jovem com "tremores" mesmo quando a debilidade muscular ainda não é ostensível. A história familiar é fundamental. A presença de fasciculações no estudo elétrico na região perioral é muito sugestiva desta patologia. A confirmação molecular é importante para o assessoramento genético.
Assuntos
Atrofia Bulboespinal Ligada ao X , Atrofia Bulboespinal Ligada ao X/genéticaRESUMO
Currently more than 30 genes are known to be responsible for genetically determined neuropathies. Charcot-Marie-Tooth (CMT) disease is the most frequent of these hereditary neuropathies, with a prevalence of 4.7 to 36 per 100 000. In its demyelinating forms (CMT1), approximately 70% of cases are associated with a duplication of the PMP22gene. In its axonal forms (CMT2), 10-20% of the cases may be associated with a mutation of the MFN2gene. For North African patients with recessive transmission, a mutation of the LMNA gene must be sought. It is essential to stress the great variability of the phenotype--clinical, electrophysiological, and histologic--between and within families. A detailed analysis of these criteria, together with consideration of ethnic origin, may guide the search for the causal mutation. Whether the case involves certainly hereditary transmission or a sporadic form, it is desirable to be able to examine the maximum number of the patient's kin, both clinically and electrophysiologically. The forms with recessive transmission usually have a very early onset and are more serious than the dominant forms. The early- and very early-onset forms of CMT are increasingly better distinguished: congenital hypomyelination neuropathy (mutations of PMP22, MPZ or EGR2), or more axonal forms, including SMARD1 (Spinal muscle atrophy with respiratory distress; mutations of IGHMBP2) and EOHMSN (Early-onset hereditary motor and sensory neuropathy; mutations of MFN2). The prevention of cutaneous (ulcerations), bone, and amputation complications is very important in patients with hereditary sensory and autonomic neuropathies, because of the severity of the sensory disorders.
Assuntos
Neuropatias Hereditárias Sensoriais e Autônomas/genética , Neuropatia Hereditária Motora e Sensorial/genética , Doença de Charcot-Marie-Tooth/classificação , Doença de Charcot-Marie-Tooth/genética , Doenças Desmielinizantes/classificação , Doenças Desmielinizantes/genética , GTP Fosfo-Hidrolases , Neuropatias Hereditárias Sensoriais e Autônomas/classificação , Neuropatia Hereditária Motora e Sensorial/classificação , Humanos , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Mutação/genética , Proteínas da Mielina/genéticaRESUMO
BACKGROUND: Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features. OBJECTIVE: To describe MFN2 mutations and associated phenotypes in patients with hereditary motor and sensory neuropathy (HMSN). DESIGN: Direct sequencing of the MFN2 gene and clinical investigations of patients with MFN2 mutations. SETTING: Molecular genetics laboratory of a university hospital and the Limoges National Referral Center for Rare Peripheral Neuropathies. PATIENTS: One hundred fifty index patients with HMSN and a median motor nerve conduction velocity of 25 m/s or greater and without mutations in the genes encoding connexin 32 and myelin protein zero. MAIN OUTCOME MEASURES: Results of genetic analyses and phenotypic observations. RESULTS: Twenty different missense mutations were identified in 20 index patients. Mutation frequency was 19 of 107 (17.8%) in patients with CMT2 and 1 of 43 (2.3%) in patients with a median motor nerve conduction velocity less than 38 m/s. Four patients had proven de novo mutations, 8 families had autosomal dominant inheritance, and 3 had autosomal recessive inheritance. The remaining 5 patients were sporadic cases with heterozygous mutations. Phenotypes varied from mild forms to early-onset severe forms. Additional features were encountered in 8 patients (32%). Six patients underwent sural nerve biopsy: electronic microscopy showed prominent mitochondrial abnormalities on longitudinal sections. CONCLUSIONS: MFN2 mutations are a frequent cause of CMT2, with variable severity and either dominant or recessive inheritance. MFN2 gene testing must be a first-line analysis in axonal HMSN irrespective of the mode of inheritance or the severity of the peripheral neuropathy.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/patologia , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Mutação de Sentido Incorreto/genética , Fenótipo , Adolescente , Adulto , Idoso , Doença de Charcot-Marie-Tooth/classificação , Criança , Pré-Escolar , Feminino , GTP Fosfo-Hidrolases , Genes Dominantes , Genes Recessivos , Marcadores Genéticos/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Adulto JovemRESUMO
There are several pathogenic mechanisms of peripheral nerve involvement in patients with monoclonal dysglobulinemia. Intranervous proliferation of malignant cells, immunoglobulin, or amyloid deposits in the endoneurial space can only be determined by examination of nerve biopsy specimens. We present clinical, electrophysiological, and histological data from seven patients whose polyneuropathy was induced by immunoglobulin deposits in the endoneurial space. As these lesions cannot be demonstrated on clinical and electrophysiological grounds, the indication for nerve biopsy derives from careful analysis of each patient presenting with a polyneuropathy and a monoclonal dysglobulinemia. To visualize and clearly characterize these deposits, electron microscopic examination is indispensable. Immunocytochemical methods using both light and electron microscopy for ultrastructural analysis are of great value. Demonstration of endoneurial immunoglobulin deposits may have major therapeutic consequences. Indeed, identification of these deposits prompted the use of aggressive treatment, which was quite effective in five of our seven patients.
Assuntos
Imunoglobulinas/metabolismo , Tecido Nervoso/metabolismo , Tecido Nervoso/patologia , Polineuropatias/metabolismo , Polineuropatias/patologia , Adulto , Idoso , Biópsia , Contagem de Células , Crioglobulinas/metabolismo , Eletrodiagnóstico , Eletrofisiologia , Feminino , Imunofluorescência , Humanos , Masculino , Microscopia Imunoeletrônica , Pessoa de Meia-Idade , Neurônios Motores/metabolismo , Neurônios Motores/patologia , Fibras Nervosas Mielinizadas/patologia , Condução Nervosa/fisiologia , Neurônios Aferentes/metabolismo , Neurônios Aferentes/patologia , Paraproteinemias/metabolismo , Paraproteinemias/patologiaRESUMO
Introducción: la parálisis de Bell es una afección frecuente que presenta en 15% de los casos una recuperación incompleta. En los últimos años se ha acumulado evidencia del posible roldel virus herpes simple tipo 1 en su etiología. Objetivos: comparar la eficacia de valaciclovir y prednisona versus prednisona placebo en laparálisis de Bell. Material y método: se realizó un ensayo prospectivo, randomizado y placebo controlado. Delos 41 pacientes incluidos, 21 fueron tratados con valaciclovir 2 g día durante siete días más prednisona (PV) y 19 con prednisona más placebo (PP) administrados oralmente.Los controles clínicos se realizaron a las 2, 4, 8 y 12 semanas, los pacientes con recuperación incompleta fueron seguidos durante seis meses. La recuperación fue definida comosatisfactoria con un puntaje mayor a 90 usando una escala compuesta de parálisis facial (FGS). Resultados: la evolución de la escala de parálisis facial no mostró diferencias significativasentre ambos grupos. La recuperación a los seis meses fue de 86,4% en el grupo PV y 89,5% en el grupo PP (p=0,86). El tiempo medio de recuperación en días fue 70,2 y 71,1, respectivamente (p=0,88). Conclusiones: nuestros resultados no demuestran un beneficio adicional del valaciclovir en eltratamiento de la parálisis de Bell.De acuerdo con las evidencias actuales, no hay consenso respecto al uso rutinario de antivirales en todos los caso de parálisis de Bell (NCT00561106).
Introduction: Bells Palsy is a frequent condition, and 15% of patients affected show incomplete recoveries. Over thepast years, wide evidence has been gathered as to the possible incidence of Herpes simplex virus type 1 in itsetiology. Objectives: to compare the efficacy of valacyclovir and prednisone versus prednisone plus placebo. Of 41 patients included in the study, 21 were treated with valacyclovir, 2g a day for seven days, and prednisone; and 19with prednisone plus placebo, administered orally. Clinical controls were carried out at weeks 2, 4, 8 and12. Patients who had incomplete recoveries were followed studied for six months. Recovery was defined as satisfactory when the score was over 90, using a facial paralysis complex scale (FGS Facial Grading Scale).Results: no meaningful difference in the evolution of the facial paralysis were found between the two groups. After six months, recovery was 86.4% in the valacyclovir and prednisone group, and 89.5% in the prednisone plus placebo group (p=0,86). Average recovery time was 70.2 and 71.1 days, respectively (p=0,88). Conclusions: our results fail to prove additional benefits of the alacyclovir in the treatment of Bells Palsy. According to current evidence available, there is no agreementregarding the antivirals ordinary use in all cases of Bells Palsy (NCT00561106).
Introdução: a paralisia de Bell é uma afecção freqüente que em 15% dos casos apresenta recuperação incompleta.Nos últimos anos tem-se observado evidência da participação do vírus herpes simplex tipo 1 em sua etiologia.Objetivos: comparar a eficácia da associação valaciclovir e prednisona versus prednisona placebo na paralisiade Bell. Material e método: foi realizado um estudo prospectivo, randomizado e placebo controlado. Dos 41 pacientesincluídos, 21 foram tratados com valaciclovir 2 g/dia durante sete dias mais prednisona (PV) e 19 com prednisona mais placebo (PP) administrados por via oral. Os controles clínicos foram realizados nas semanas 2,4, 8 e 12; os pacientes com recuperação incompleta foram seguidos durante seis meses. A recuperação foi definida como satisfatória quando apresentavam pontuação superior a 90 usando uma escala composta de paralisia facial(FGS). Resultados: a evolução da escala de paralisia facial não mostrou diferenças significativas entre ambos os grupos. A recuperação aos seis meses foi de 86,4% no grupo PV e 89,5% no grupo PP (p=0,86). O tempo médio derecuperação em dias foi 70,2 e 71,1 ,respectivamente (p=0,88).Conclusões: nossos resultados não mostraram um beneficio adicional do uso do valaciclovir no tratamentoda paralisia de Bell. De acordo com as evidências atuais, não existe consensosobre o uso rotineiro de anti-virais em todos los caso de paralisia de Bell (NCT00561106).