Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española / Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

Introducción: El síndrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediátrico; de base neuroinflamatoria y origen paraneoplásico, parainfeccioso o idiopático. Actualmente no hay biomarcadores, siendo el diagnóstico clínico. El pronóstico cognitivo parece estar relacionado con el inicio temprano de la terapia inmunomoduladora.MétodoSe describen las características epidemiológicas, clínicas, terapéuticas y pronósticas a largo plazo de una cohorte de 20 pacientes españoles.ResultadosLa edad media de debut fue de 21 meses (2-59 meses). La ataxia y el opsoclonus fueron los síntomas de inicio más frecuentes y predominantes en la evolución. El tiempo medio desde los primeros síntomas hasta el diagnóstico fue de 1,1 mes. Un tumor de extirpe neuroblástica fue detectado en el 45%, realizándose resección quirúrgica en siete y quimioterapia en dos pacientes. En el estudio de líquido cefalorraquídeo se constató pleocitosis en cuatro (25%), con negatividad de anticuerpos antineuronales y bandas oligoclonales en todos los casos estudiados. En el 100% se emplearon fármacos inmunomoduladores. En nueve pacientes el tratamiento combinado inmunomodulador se inició desde el momento del diagnóstico, y en cinco el tiempo medio de implementación fue de 2,2 meses. A largo plazo, seis de 10 pacientes con seguimiento superior a cinco años presentaban secuelas cognitivas leves o moderadas; cuatro pacientes presentaron recaídas, generalmente coincidiendo con el descenso de la corticoterapia.ConclusionesEl inicio precoz de la inmunoterapia, así como de la triple terapia en los casos que lo precisaron, se relacionó con una menor frecuencia de afectación cognitiva a los dos años del debut. (AU)

Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.MethodsWe describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients.ResultsThe mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses.ConclusionsEarly initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset. (AU)

Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Serum microRNAs Catalog Asthma Patients by Phenotype.

BACKGROUND AND OBJECTIVES: Asthma is a chronic inflammatory condition of the airways with a complex pathophysiology. Stratification of asthma subtypes into phenotypes and endotypes should move the field forward, making treatment more effective and personalized. Eosinophils are the key inflammatory cells involved in severe eosinophilic asthma. Given the health threat posed by eosinophilic asthma, there is a need for reliable biomarkers to identify affected patients and treat them properly with novel biologics. microRNAs (miRNAs) are a promising diagnostic tool. The aim of this study was to identify serum miRNAs that can phenotype asthma patients. METHODS: Serum miRNAs of patients with eosinophilic asthma (N=40) and patients with noneosinophilic asthma (N=36) were evaluated using next-generation sequencing, specifically miRNAs-seq, and selected miRNAs were validated using RT-qPCR. Pathway enrichment analysis of deregulated miRNAs was performed. RESULTS: Next-generation sequencing revealed 15 miRNAs that were expressed differentially between eosinophilic and noneosinophilic asthma patients, although no differences were observed in the miRNome between atopic and nonatopic asthma patients. Of the 15 miRNAs expressed differentially between eosinophilic and noneosinophilic asthma patients, hsa-miR-26a-1-3p and hsa-miR-376a-3p were validated by RT-qPCR. Expression levels of these 2 miRNAs were higher in eosinophilic than in noneosinophilic asthma patients. Furthermore, expression values of hsa-miR-26a-1-3p correlated inversely with peripheral blood eosinophil count, and hsa-miR-376a-3p expression values correlated with FeNO values and the number of exacerbations. Additionally, in silico pathway enrichment analysis revealed that these 2 miRNAs regulate signaling pathways associated with the pathogenesis of asthma. CONCLUSIONS: hsa-miR-26a-1-3p and hsa-miR-376a-3p could be used to differentiate between eosinophilic and noneosinophilic asthma.

Serum microRNAs Catalog Asthma Patients by Phenotype

Background: Asthma is a chronic inflammatory condition of the airways with a complex pathophysiology. Stratification of asthma subtypes into phenotypes and endotypes should move the field forward, making treatment more effective and personalized. Eosinophils are the key inflammatory cells involved in severe eosinophilic asthma. Given the health threat posed by eosinophilic asthma, there is a need for reliable biomarkers to identify affected patients and treat them properly with novel biologics. microRNAs (miRNAs) are a promising diagnostic tool. Objective: The aim of this study was to identify serum miRNAs that can phenotype asthma patients. Methods: Serum miRNAs of patients with eosinophilic asthma (N=40) and patients with noneosinophilic asthma (N=36) were evaluated using next-generation sequencing, specifically miRNAs-seq, and selected miRNAs were validated using RT-qPCR. Pathway enrichment analysis of deregulated miRNAs was performed. Results: Next-generation sequencing revealed 15 miRNAs that were expressed differentially between eosinophilic and noneosinophilic asthma patients, although no differences were observed in the miRNome between atopic and nonatopic asthma patients. Of the 15 miRNAs expressed differentially between eosinophilic and noneosinophilic asthma patients, hsa-miR-26a-1-3p and hsa-miR-376a-3p were validated by RT-qPCR. Expression levels of these 2 miRNAs were higher in eosinophilic than in noneosinophilic asthma patients. Furthermore, expression values of hsa-miR-26a-1-3p correlated inversely with peripheral blood eosinophil count, and hsa-miR-376a-3p expression values correlated with FeNO values and the number of exacerbations. Additionally, in silico pathway enrichment analysis revealed that these 2 miRNAs regulate signaling pathways associated with the pathogenesis of asthma. Conclusion: hsa-miR-26a-1-3p and hsa-miR-376a-3p could be used to differentiate between eosinophilic and noneosinophilic asthma (AU)

Eosinophil Response Against Classical and Emerging Respiratory Viruses: COVID-19.

Eosinophils were discovered more than 140 years ago. These polymorphonuclear leukocytes have a very active metabolism and contain numerous intracellular secretory granules that enable multiple effects on both health and disease status. Classically, eosinophils have been considered important immune cells in the pathogenesis of inflammatory processes (eg, parasitic helminth infections) and allergic or pulmonary diseases (eg, asthma) and are always associated with a type 2 immune response. Furthermore, in recent years, eosinophils have been linked to the immune response by conferring host protection against fungi, bacteria, and viruses, which they recognize through several molecules, such as toll-like receptors and the retinoic acid-inducible gene 1-like receptor. The immune protection provided by eosinophils is exerted through multiple mechanisms and properties. Eosinophils contain numerous cytoplasmatic granules that release cationic proteins, cytokines, chemokines, and other molecules, all of which contribute to their functioning. In addition to the competence of eosinophils as effector cells, their capabilities as antigen-presenting cells enable them to act in multiple situations, thus promoting diverse aspects of the immune response. This review summarizes various aspects of eosinophil biology, with emphasis on the mechanisms used and roles played by eosinophils in host defence against viral infections and response to vaccines. The review focuses on respiratory viruses, such as the new coronavirus, SARS-CoV-2.

Eosinophil Response Against Classical and Emerging Respiratory Viruses: COVID-19

Eosinophils were discovered more than 140 years ago. These polymorphonuclear leukocytes have a very active metabolism and contain numerous intracellular secretory granules that enable multiple effects on both health and disease status. Classically, eosinophils have been considered important immune cells in the pathogenesis of inflammatory processes (eg, parasitic helminth infections) and allergic or pulmonary diseases (eg, asthma) and are always associated with a type 2 immune response. Furthermore, in recent years, eosinophils have been linked to the immune response by conferring host protection against fungi, bacteria, and viruses, which they recognize through several molecules, such as toll-like receptors and the retinoic acid–inducible gene 1–like receptor. The immune protection provided by eosinophils is exerted through multiple mechanisms and properties. Eosinophils contain numerous cytoplasmatic granules that release cationic proteins, cytokines, chemokines, and other molecules, all of which contribute to their functioning. In addition to the competence of eosinophils as effector cells, their capabilities as antigen-presenting cells enable them to act in multiple situations, thus promoting diverse aspects of the immune response. This review summarizes various aspects of eosinophil biology, with emphasis on the mechanisms used and roles played by eosinophils in host defence against viral infections and response to vaccines. The review focuses on respiratory viruses, such as the new coronavirus, SARS-CoV-2. (AU)

Los eosinófilos fueron descubiertos hace más de 140 años. Este leucocito polimorfonuclear tiene un metabolismo muy activo y contiene numerosos gránulos secretores intracelulares que le permiten ejercer múltiples funciones tanto en el estado no patológico como en el de la enfermedad. Clásicamente, los eosinófilos se han considerado como importantes células inmunes en la patogénesis de procesos inflamatorios tales como infecciones parasitarias por helmintos y enfermedades alérgicas y/o pulmonares como el asma, las cuales están asociadas a una respuesta inmune tipo 2. Además, en los últimos años, los eosinófilos también han sido relacionados con la respuesta inmunológica que confiere protección al huésped contra hongos, bacterias y virus, reconociéndolos a través de varias moléculas como los receptores tipo Toll (TLR) o los receptores parecidos al gen inducible por ácido retinoico 1 (RIG-1) o RLR. La protección inmune es ejercida a través de los múltiples mecanismos y propiedades características de estas células. Contienen numerosos gránulos citoplasmáticos que liberan proteínas catiónicas, citocinas, quimiocinas y otras moléculas que contribuyen a estas funciones. Además de su competencia como células efectoras, sus capacidades como célula presentadora de antígeno les permite actuar en múltiples situaciones, promoviendo diversos aspectos de la respuesta inmune. En esta revisión se resumen diversos aspectos de la biología de los eosinófilos y, principalmente, se repasan los mecanismos y funciones que desempeñan estas células en la defensa del huésped contra las infecciones por virus, así como la respuesta desencadenada por las vacunas víricas, focalizando la atención en los virus respiratorios como el nuevo coronavirus SARS-CoV-2. (AU)

Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. / Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Non-motor symptom burden is strongly correlated to motor complications in patients with Parkinson's disease.

BACKGROUND AND PURPOSE: The objective of this study was to analyze the relationship between motor complications and non-motor symptom (NMS) burden in a population of patients with Parkinson's disease (PD) and also in a subgroup of patients with early PD. METHODS: Patients with PD from the COPPADIS cohort were included in this cross-sectional study. NMS burden was defined according to the Non-Motor Symptoms Scale (NMSS) total score. Unified Parkinson's Disease Rating Scale (UPDRS) part IV was used to establish motor complication types and their severity. Patients with ≤5 years of symptoms from onset were included as patients with early PD. RESULTS: Of 690 patients with PD (62.6 ± 8.9 years old, 60.1% males), 33.9% and 18.1% presented motor fluctuations and dyskinesia, respectively. The NMS total score was higher in patients with motor fluctuations (59.2 ± 43.1 vs. 38.3 ± 33.1; P < 0.0001) and dyskinesia (63.5 ± 40.7 vs. 41.4 ± 36.3; P < 0.0001). In a multiple linear regression model and after adjustment for age, sex, disease duration, Hoehn & Yahr stage, UPDRS-III score and levodopa equivalent daily dose, UPDRS-IV score was significantly related to a higher NMSS total score (ß = 0.27; 95% confidence intervals, 2.81-5.61; P < 0.0001), as it was in a logistic regression model on dichotomous NMSS total score (≤40, mild or moderate vs. >40, severe or very severe) (odds ratio, 1.31; 95% confidence intervals, 1.17-1.47; P < 0.0001). In the subgroup of patients with early PD (n = 396; mean disease duration 2.7 ± 1.5 years), motor fluctuations were frequent (18.1%) and similar results were obtained. CONCLUSIONS: Motor complications were frequent and were associated with a greater NMS burden in patients with PD even during the first 5 years of disease duration.

Chromium and Lead adsorption by avocado seed biomass study through the use of Total Reflection X-Ray Fluorescence analysis.

Adsorption is an effective method for the treatment of wastewater containing low concentrations of heavy metals. This kind of metals such as Chromium and Lead could affect health and the ecosystem. In this work, biomass of avocado seed was used as adsorbent. It was tested as adsorbent in natural form (NB), as a chemically activated (AB) form and as activated carbon (AC). Batch reactors were used to investigate the adsorbent efficiency. Concentration of metal ions was measured using Total Reflection X-Ray Fluorescence. Operational conditions influencing adsorption, such as: pH, adsorbent dose, initial concentration and contact time, were measured and controlled. The 80% of adsorption was reached, at pH: 5 and 25 °C, when were used 50 mL of: a 20 mg L-1 of Cr (VI) solution with a dose of 1.25 g of NB, a 30 mg L-1 of Pb (II) solution with a dose of 0.15 g of NB, a 50 mg L-1 Pb (II) solution with a dose of 0.15 g of AB, a 30 mg L-1 Cr (VI) solution with a dose of 0.35 g of AB, a 30 mg L-1 of both metals, with a dose of 0.15 g of AC for Pb (II) and 0.7 g of AC for Cr (VI). In all cases, the pH value before and during the experiments remained constant, indicating the lack of acid/base reactions during the processes. The Langmuir adsorption isotherm model best fitted to the experimental data. The experimental results from kinetic studies best correlated using the pseudo-second order model. An increase in the remotion of both ions (Pb (II) and Cr (VI)), was observed when comparing the results obtained using the activated biomass. However, considering the loss of biomass that the pre-treatment causes, the remotion per gram of initial biomass does not vary significantly.

Anticuerpos en miopatías inflamatorias idiopáticas / Antibodies in idiopathic inflammatory myopathies

Las miopatías inflamatorias idiopáticas (MII) comprenden un grupo de enfermedades multisistémicas de baja prevalencia que afectan tanto adultos como a niños, con ma-nifestaciones clínicas variables como lo son: debilidad muscular de predominio proxi-mal, alteraciones cutáneas (pápulas de Gottron, signo del chal, ulceras cutáneas), artritis, enfermedad pulmonar intersticial difusa (EPD), calcinosis y malignidad; en-marcadas en diferentes subtipos clínicos. Se cree que la autoinmunidad tiene un pa-pel clave en la patogénesis de estas enfermedades y como tal se han identificado autoanticuerpos en más del 50% de los pacientes con MII (algunos específicos y otros relacionados a miositis), lo cual ha permito clasificar diferentes características fenotí-picas e histológicas de estas enfermedades al igual de reconocer diferentes patrones de respuesta a tratamiento y factores pronósticos.En esta revisión mencionaremos los autoanticuerpos mas conocidos en relación a las miopatías inflamatorias idiopáticas, incluida la identificación de anticuerpos asocia-dos con las miopatía necrotizantes autoinmunes (MNA), la miositis por cuerpos de inclusión (MCI) y la asociación miositis - cáncer.

The Idiopathic inflammatory myopathies (IIM) comprise a group of low prevalence multisitemic diseases that affect both adults and children, with variable clinical man-ifestations such as muscular weakness of predominantly proximal, skin alterations (Gottron papules, sign of the shawl, skin ulcers), arthritis, diffuse interstitial lung dis-ease (ILD), calcinosis and malignancy; framed in different clinical subtypes. It is be-lieved that autoimmunity plays a key role in the pathogenesis of these diseases and as such autoantibodies have been identified in more than 50% of patients with IIM (some specific and others related to myositis), which has allowed to classify different phenotypic characteristics and histological of these diseases as well as recognizing different patterns of response to treatment and prognostic factors.In this review we will mention the most known autoantibodies in relation to idio-pathic inflammatory myopathies, including the identification of antibodies associated with autoimmune necrotizing myopathies (ANM), inclusion body myositis (IBM) and the myositis - cancer association.

Netrin-1 and multiple sclerosis: a new biomarker for neuroinflammation?

BACKGROUND AND PURPOSE: Netrin-1, an axon guidance protein, reduces serum levels of pro-inflammatory mediators and stabilizes the blood-brain barrier limiting the entrance of immune cells into the central nervous system. The aim was to investigate its presence in the experimental autoimmune encephalomyelitis (EAE) model and in multiple sclerosis (MS) patients with and without clinical activity. METHODS: Netrin-1 levels were evaluated in EAE mouse tissues. Afterwards, serum netrin-1 was cross-sectionally quantified in 90 patients with different MS phenotypes and 30 control subjects. An additional group of 10 relapsing-remitting MS (RRMS) patients was longitudinally evaluated throughout a relapse (RRMSr) with an interval of 60 days. Tumour necrosis factor α (TNFα), a reference inflammatory cytokine, and netrin-1 were quantified by enzyme-linked immunosorbent assay. RESULTS: Experimental autoimmune encephalomyelitis mice showed significantly lower netrin-1 levels and higher TNFα amounts in sera, spinal cord and cerebella than healthy control mice. MS patients showed significantly lower serum netrin-1 levels than controls (511.62 ± 209.30 and 748.32 ± 103.24 pg/ml, respectively; P ≤ 0.005). The lowest protein levels were found in RRMSr, remaining significantly lower throughout the relapse. TNFα serum concentrations were higher in MS patients compared to controls, and negatively correlated with netrin-1 levels (r = -0.3734, P ≤ 0.0001). CONCLUSIONS: Netrin-1 decreased in EAE and in MS patients, mainly during relapse, suggesting an anti-inflammatory role of netrin-1. Further research should be performed in a larger cohort of patients to validate netrin-1 as a biomarker of MS inflammatory activity.

Safety analysis of laparoscopic endoscopic cooperative surgery versus endoscopic submucosal dissection for selected gastric gastrointestinal stromal tumors: a propensity score-matched study.

BACKGROUND: Laparoscopic endoscopic cooperative surgery (LECS) is a safe alternative to endoscopic submucosal dissection (ESD) for select gastric gastrointestinal stromal tumors (GISTs) that are <2 cm in size. To date, there have been no randomized studies comparing the feasibility of these two techniques. Therefore, we compared their feasibility and safety using the propensity score matching method in this study. METHODS: This was a single-center, retrospective, propensity score-matched study of patients who underwent resection of selected gastric GISTs between 2004 and 2014. All patients underwent curative resection for pathologically diagnosed small gastric GISTs. The primary aim was to determine intraoperative complications and postoperative courses. To overcome selection biases, we performed a 1:1 match using five covariates, including age, gender, body mass index, Charlson comorbidity index, and tumor location, to generate propensity scores. RESULTS: In total, 32 patients treated with LECS and 102 patients treated with ESD were balanced into 30 pairs. The rate of intraoperative complications was significantly lower in the LECS group than in the ESD group (P = 0.029). LECS patients had less intraoperative bleeding than did ESD patients (15.0 ml [range 9.5-50.0 ml] vs. 43.5 ml [range 22.3-56.0 ml], P = 0.004). The two groups had similar postoperative courses. There was no difference in the reoperation rate between the two groups (P = 0.112). The ESD group had a shorter operating time than did the LECS group (41.5 min vs. 96.5 min, P < 0.001). However, during a follow-up of 57.9 (±28.9) months, the recurrence rate did not differ significantly between the two groups (0.0 vs. 6.7 %, respectively; P = 0.256). CONCLUSIONS: LECS for selected gastric GIST patients is feasible and is associated with a better intraoperative outcome and an equal postoperative course compared with the results of ESD.

Déficit de carnitina palmitoil transferasa II: peculiaridades en su diagnóstico / Rhabdomyolysis due to carnitine palmitoyl transferase II deficiency

Introducción: El déficit de carnitina palmitoil transferasa II (CPT-II) es la miopatía metabólica más frecuente causante de crisis recurrentes de rabdomiólisis en la infancia, especialmente después del ejercicio. Caso clínico: Niño de 13 años que consulta por dolor muscular y orinas oscuras tras haber realizado ejercicio físico intenso. Como antecedentes personales destaca un episodio hace un año de similares características. Los hallazgos analíticos más relevantes fueron: CPK 283.400 UI/L [38-190], AST 4.178 UI/L [5-35], ALT 768 UI/L [5-26], LDH 4.100 UI/L [135-225] y mioglobinuria 17.446 µg/24 horas, con resto de parámetros analíticos dentro de la normalidad. Se realiza estudio metabólico en sangre y orina incluyendo: ácidos orgánicos, carnitina, acilcarnitinas, piruvato y lactato sin hallazgos patológicos. Ante la alta sospecha clínica y a pesar de la normalidad del estudio metabólico, se solicita estudio del gen de la CPT-II, encontrando la mutación c338C>T en homocigosis en dicho gen, lo cual confirma el diagnóstico. Conclusiones: El déficit de CPT-II es la causa más frecuente de rabdomiólisis recurrente en la infancia dentro de las miopatías metabólicas. Para su diagnóstico es fundamental una alta sospecha clínica. Los estudios que confirman el diagnóstico son el análisis genético o la medición de la actividad enzimática en músculo, a pesar de un estudio metabólico normal. Las medidas higiénico-dietéticas, evitando los periodos de ayuno y siguiendo una dieta rica en hidratos de carbono de absorción lenta permiten a estos niños llevar a cabo una vida normal

Introduction: Carnitine palmitoyl transferase II deficiency (CPT-II) is the most common inherited cause of recurrent episodes of rhabdomyolysis in childhood, especially after exertion. Case report: 13 year-old child with dark urine and myalgia after prolonged exercise. His medical history included a similar event a year ago. The main laboratory findings were: CPK 283,400 IU / L [38-190], AST 4,178 IU / L [5-35], ALT 768 IU / L. [5-26], LDH 4100 IU / L [135-225] and myoglobinuria 17,446 µg / 24 hours. Metabolic study in plasma and urine was performed including: organic acids, carnitine, acylcarnitines, pyruvate and lactate without abnormal findings. Given the high clinical suspicion and despite normal metabolic study, study of gene CPT-II is requested showing c338C>T homozygous mutation which confirms the diagnosis. Conclusions: CPT-II deficiency is the most common cause of recurrent episodes of rhabdomyolysis in childhood. High clinical suspicion is the main factor in the diagnostic process. Genetic analysis or enzyme activity measurement in muscle will confirm the diagnosis despite normal metabolic studies in plasma and urine. Treatment consists of nutritional modifications including avoidance of fasting and a high slow burning carbohydrates diet

Esperanza de vida saludable según prevalencia de morbilidades y limitaciones permanentes, Argentina, 2009-2010 / Healthy life expectancy by permanent limitations and morbidities, Argentina, 2009-2010

INTRODUCCIÓN A medida que se desplaza la mortalidad hacia edades avanzadas y predomina la morbilidad por enfermedades crónicas no transmisibles, las esperanzas de vida libre de limitaciones permanentes (EVLLP) y con limitaciones permanentes (EVCLP) constituyen indicadores recomendados para evaluar las condiciones de salud de las poblaciones. OBJETIVOS Elaborar los indicadores de esperanza de vida saludable (EVS), esperanza de vida libre de discapacidad (EVLD) y otros que resulten relevantes, sobre la base de complementar las prevalencias de morbilidades con las tablas de mortalidad por edad y sexo, para todo el país y por jurisdicciones o regiones. MÉTODOS El estudio se realizó mediante el procesamiento de datos secundarios del Censo 2010 y la Encuesta Nacional de Factores de Riesgo 2009. Se evaluó la esperanza de vida en salud, que combina las prevalencias de morbilidad y mortalidad en una misma tabla de vida (Argentina, 2008-2010), siguiendo el modelo de cálculo formulado por Sullivan. DISCUSIÓN Los años de vida agregados en promedio a la población argentina no dieron por resultado situaciones de salud homólogas en todo el territorio nacional, sino que se evidenciaron tres perfiles regionales diferenciados. Aplicando el enfoque del impacto diferencial de las limitaciones sobre la esperanza de vida total, se observa que las mujeres cuentan con mayor EVLD, pero con mayor carga de discapacidad. CABA es la jurisdicción del país con mayor EVLD y con menor carga de discapacidad; la que exhibe el mayor impacto de la discapacidad en la esperanza de vida total de la población es Jujuy.

Glucemia capilar en ayunas como prueba de cribaje de la diabetes mellitus tipo 2 en la infancia

La descripción de fenotipos o de marcadores bioquímicos precoces de enfermedades metabólicas ha sido estudiada desde hace algunos años; varias de ellas, tienen su origen en la infancia o en la adolescencia, por lo cual, una intervención precoz podría evitar futuras complicaciones, mejorar la calidad de vida de estas personas y reducir los costos sanitarios. Objetivo: Describir un grupo de niños con alteraciones metabólicas que podrían desarrollar Diabetes Mellitus tipo 2 en la etapa adulta. Métodos: La glucosa capilar en ayunas (GCA) fue evaluada en 2.734 niños de Bailén (Andalucía, España). 51 niños fueron seleccionados en forma randomizada aunque 33 de ellos aceptaron continuar el estudio: 16 niños con GCA>5,55 mmol/l en dos ocasiones fueron considerados como Grupo A; el Grupo B estaba formado por 17 niños con GCA 7 en tres (3) que podrían ser considerados como pacientes diabéticos. La GPA (mmol/l) en el Grupo B fue 4,65 ñ 0,11. La circunferencia de cintura, la ratio proinsulina-insulina y los niveles de triglicéridos fueron significativamente diferentes entre los grupos. Conclusiones: La Diabetes Mellitus tipo 2 al igual que otras alteraciones metabólicas crónicas tendría un origen precoz, tal vez en la infancia o en la adolescencia. Por ello, un método simple y de fácil manejo como la determinación de la glucemia capilar en ayunas podría ser utilizado como prueba de cribaje de una población infantil aunque, a partir de estos datos sería necesario realizar cribajes similiares en otras poblaciones y comprobar la reproducción de los resultados (AU)