检索结果-内蒙古大学图书馆

Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status

引用

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 2019年第5期23卷 685-691页

作者： Gassio, Rosa Julieta Gonzalez, Maria Sans, Oscar Artuch, Rafael Sierra, Cristina Ormazabal, Aida cuadras, daniel Campistol, Jaume Inst Recerca St Joan de Deu Esplugas de Llobregat Spain Hosp St Joan de Deu Dept Neurol Passeig St Joan de Deu 2Planta 4 Esplugas de Llobregat 08950 Spain Hosp St Joan de Deu Dept Neurol Neurophysiol Div Pediat Sleep Unit Esplugas de Llobregat Spain Hosp St Joan de Deu Dept Clin Biochem Esplugas de Llobregat Spain Inst Hlth Carlos III ISCIII Biomed Network Res Ctr Rare Dis CIBER ER Madrid Spain Parc Sanitari St Joan de Deu Methodol & Stat Advice Serv Res St Boi De Llobregat Spain

Phenylketonuric (PKU) patients are a population at risk for sleep disorders due to deficits in neurotransmitter synthesis. We aimed to study the prevalence of sleep disorders in early-treated PKU children and adolescents and assessed correlations with dopamine and serotonin status. We compared 32 PKU patients (16 females, 16 males;mean age 12 years), a healthy control group of 32 subjects (16 females, 16 males;mean age 11.9 years). 19 PKU patients were under dietary treatment and 13 on tetrahydrobiopterin therapy. Con-current phenylalanine (Phe), index of dietary control and variability in Phe in the last year, tyrosine, tryptophan, prolactin, and ferritin in plasma, platelet serotonin concentration, and melatonin, homovanillic and 5-hydroxyindoleacetic acid excretion in urine were analyzed. Sleep was assessed using Bruni's Sleep Disturbance Scale for Children. Sleep disorders were similar in both groups, 15.6% in control group and 12.5% in PKU group. In PKU patients, no correlations were found with peripheral biomarkers of neurotransmitter synthesis nor different Phe parameters, 43.3% had low melatonin excretion and 43.8% low platelet serotonin concentrations. Despite melatonin and serotonin deficits in early-treated PKU patients, the prevalence of sleep disorders is similar to that of the general population. (C) 2019 The Authors. Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.

关键词： Phenylketonuria Sleep disorders Dopamine Serotonin Melatonin

来源：评论

学校读者我要写书评

暂无评论

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

引用

NEUROMUSCULAR DISORDERS 2020年第9期30卷 719-726页

作者： Julieth Bobadilla-Quesada, Edna Natera-de Benito, daniel Carrera-Garcia, Laura Ortez, Carlos Exposito-Escudero, Jessica Jimenez-Mallebrera, Cecilia Jou, Cristina Codina, Anna Corbera, Joan Moya, Obdulia Saez, Veronica Gonzalez-Quereda, Lidia Gallano, Pia Colomer, Jaume cuadras, daniel Medina, Julita Eugenia Yoldi, Maria Nascimento, Andres Hosp St Joan de Deu Neuromuscular Unit Neuropaediat Dept Inst Recerca Barcelona Spain CIBERER U703 Barcelona Spain Hosp St Joan de Deu Dept Pathol Barcelona Spain Hosp St Joan de Deu Rehabil & Phys Unit Dept Barcelona Spain Hosp Santa Creu & Sant Pau Dept Genet Barcelona Spain CIBERER U705 Barcelona Spain Fundacio St Joan de Deu Stat Dept Barcelona Spain Navarrabiomed Dept Pediat Pediat Neurol Unit Navarra Hlth Serv Pamplona Spain

GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on the short and long term were not available. We describe the response to treatment with pyridostigmine in three siblings with GMPPB-related CMS using functional motor scales performed regularly over a period of 40 months. The beneficial effect of the treatment was outstanding within the first hours, with all the scales showing a dramatic increase in only two days. This remarkable improvement remained steady during 12 months but a moderate decrease was subsequently detected in two of the three patients. Despite this decline in the scores of the scales at the end of follow up, the functional motor status of the patients was still significantly better than it was before starting treatment. The introduction of pyridostigmine at an early age of the disease in one of the patients, before the onset of scoliosis, may have had a protective effect on it. (C) 2020 Elsevier B.V. All rights reserved.

关键词： Congenital myasthenic syndrome Dystroglycanopathy Muscular dystrophy Gmppb Pyridostigmine Motor functional scales

来源：评论

学校读者我要写书评

暂无评论

Benefits of a Pediatric Antimicrobial Stewardship Program in Antimicrobial Use and Quality of Prescriptions in a Referral Children's Hospital

引用

JOURNAL OF PEDIATRICS 2020年 225卷 222-+页

作者： Velasco-Arnaiz, Eneritz Simo-Nebot, Silvia Rios-Barnes, Maria Ramos, Maria Goretti Lopez Monsonis, Manuel Urrea-Ayala, Mireia Jordan, Iolanda Mas-Comas, Anna Casadevall-Llandrich, Ricard Ormazabal-Kirchner, daniel cuadras-Palleja, daniel Perez-Perez, Cristina Millet-Elizalde, Marta Sanchez-Ruiz, Emilia Fortuny, Claudia Noguera-Julian, Antoni St Joan Deu Hosp Res Fdn Infect Dis Unit Infect Dis & Syst Inflammatory Response Pediat Dept Pediat Barcelona Spain Ctr Biomed Network Res Epidemiol & Publ Hlth CIBE Madrid Spain St Joan Deu Hosp Pharm Dept Barcelona Spain St Joan Deu Hosp Clin Microbiol Dept Barcelona Spain St Joan Deu Hosp Infect Control Dept Barcelona Spain St Joan Deu Hosp Pediat Intens Care Unit Barcelona Spain Univ Barcelona Dept Pediat Barcelona Spain Translat Res Network Pediat Infect Dis RITIP Madrid Spain St Joan Deu Hosp Management Dept Barcelona Spain St Joan Deu Hosp Comp Dept Barcelona Spain St Joan Deu Res Fdn Stat Dept Barcelona Spain St Joan Deu Hosp Econ & Finance Dept Barcelona Spain Ramon Llull Univ Blanquerna Sch Hlth Sci Barcelona Spain

Objectives To evaluate the results of the first 24 months of a postprescription review with feedback-based antimicrobial stewardship program in a European referral children's hospital. Study design We performed a pre-post study comparing antimicrobial use between the control (2015-2016) and the intervention periods (2017-2018) expressed in days of therapy/100 days present. Quality of prescriptions was evaluated by quarterly cross-sectional point-prevalence surveys. Length of stay, readmission rates, in-hospital mortality rates, cost of systemic antimicrobial agents, and antimicrobial resistance rates were included as complementary outcomes. Results Total antimicrobial use and antibacterial use significantly decreased during the intervention period (P = .002 and P = .001 respectively), and total antifungal use remained stable. A significant decline in parenteral antimicrobial use was also observed (P < .001). In 8 quarterly point-prevalence surveys (938 prescriptions evaluated), the mean prevalence of use of any antimicrobial among inpatients was 39%. An increasing trend in the rate of optimal prescriptions was observed after the first point-prevalence survey (P = .0898). Nonoptimal prescriptions were more common in surgical than in medical departments, in antibacterial prescriptions with prophylactic intention, and in empirical more than in targeted treatments. No significant differences were observed in terms of mortality or readmission rates. Only minor changes in antimicrobial resistance rates were noted. Conclusions Our antimicrobial stewardship program safely decreased antimicrobial use and expenditure, and a trend toward improvement in quality of prescription was also observed.

关键词： antibiotic antifungal antimicrobial resistance pediatrics quality indicators

来源：评论

学校读者我要写书评

暂无评论

Anatomic and functional evaluation of the levator ani muscle after an obstetric anal sphincter injury

引用

ARCHIVES OF GYNECOLOGY AND OBSTETRICS 2019年第4期299卷 1001-1006页

作者： Martinez Franco, Eva Lopez Negre, Jose Luis Pares, David Ros Cerro, Cristina Amat Tardiu, Lluis cuadras, daniel Espuna Pons, Montserrat Univ Barcelona Dept Obstet & Gynecol Parc Sanitari St Joan Deu Cami Vell Colonia 25 St Boi De Llobregat 08830 Spain Univ Barcelona Gen & Digest Surg Dept Parc Sanitari St Joan Deu St Boi De Llobregat Spain Univ Autonoma Barcelona Hosp Germans Trias & Pujol Gen & Digest Surg Dept Colorectal Surg Unit Badalona Spain Univ Barcelona Hosp Clin Dept Obstet & Gynecol Barcelona Spain Univ Barcelona Hosp St Joan Deu Dept Obstet & Gynecol Esplugas de Llobregat Spain St Joan Deu Res Fdn Stat & Methodol Dept Esplugas de Llobregat Spain

PurposeTo study the relationship between symptoms of anal incontinence (AI) and the anatomy and functionality of the levator ani muscle in women with a history of obstetric anal sphincter injury (OASI).MethodsThis is a cohort study including patients with OASI from 2013 to 2016. Patients were assessed by a physical examination, endoanal ultrasound using Starck Scale, perineometry and 4D transperineal ultrasound. AI in all patients was measured with the Wexner scale. Correlation between variables has been analyzed in these ***72 patients were analyzed: 28 with a IIIA degree tear, 26 with a IIIB, 13 with a IIIC and 5 with a IV. 38 patients showed a residual anal sphincter (AS) defect on endoanal ultrasound with an average Starck score of 6.53.7. 21 patients expressed AI, withan average Wexner score of 4.1 +/- 2.4. In 27 (37.5%) patients, a levator ani avulsion was observed: 17 unilateral and 10 bilateral. Patients with a levator ani defect had weaker pelvic floor muscle (PFM) function. These differences were statistically significant with perineometry (p=0.01 and p=0.03) but not for the Oxford test (p=0.08). Patients with a residual AS defect as well as an injury to the levator ani muscle expressed greater AI symptomatology than patients with residual sphincter injury who maintain the integrity of the levator ani: Wexner 4.9 0.9 vs 3.3 1 (p=0.02).Conclusions p id=Par4 The PFM has correlation with AI symptom development in patients with a history of OASI. Therefore, we suggest a key role of anatomical and functional assessments of the levator ani muscle in these patients.

关键词： Anal sphincter obstetric injury Anal incontinence Levator ani

来源：评论

学校读者我要写书评

暂无评论

High BDNF serum levels are associated to good cognitive functioning in bipolar disorder

引用

EUROPEAN PSYCHIATRY 2019年 60卷 97-107页

作者： Mora, Ester Portella, Maria J. Pinol-Ripoll, Gerard Lopez, Ricard cuadras, daniel Forcada, Irene Teres, Montse Vieta, Eduard Mur, Maria Univ Lleida Biol Fdn Mental Disorders Lleida Inst Biomed Res Dr Pifarre Fdn Hosp Univ Santa MariaPsychiat ServIRBLleida Lleida Catalonia Spain Hosp St Joan de Deu Terres Lleida Child & Adolescent Mental Hlth Ctr Catalonia Spain Autonomous Univ Barcelona CIBERSAM Hosp Santa Creu & St Pau Psychiat ServRes Inst Barcelona Catalonia Spain Univ Lleida Cognit Disorders Unit Lleida Inst Biomed Res Dr Pifarre Fdn Hosp Univ Santa MariaNeurosci Clin GrpIRBLleida Lleida Catalonia Spain Univ Lleida Hosp Univ Arnau de Vilanova Lleida Inst Biomed Res Dr Pifarre Fdn Lab DeptIRBLleida Lleida Catalonia Spain St Joan de Deu Res Fdn Stat Unit Parc Sanitari St Joan de Deu Barcelona Catalonia Spain Univ Barcelona IDIBAPS CIBERSAM Bipolar Disorder ProgramHosp ClinInst Neurosci Barcelona Catalonia Spain

Background: Neurotrophins such as brain-derived neurotrophic factor (BDNF), inflammation and oxidative damage may contribute to the pathophysiology of bipolar disorder (BD) in terms of illness activity. To date, there is a lack of studies linking the cognitive impairment observed in BD with these neurobiological mechanisms. This study aimed to investigate the role of these neurobiological factors in clinical and cognitive outcomes in a sample of bipolar individuals. Methods: We measured serum BDNF, cytokines and oxidative stress markers in a sample of 133 individuals: 52 euthymic bipolar patients, 32 manic patients and 49 healthy controls. They were all assessed with a comprehensive cognitive battery. Sociodemographic and clinical data were collected. Multiple linear regression models were built to study associations of neurotrophins and inflammatory and oxidative measures with cognitive functioning. Results: BDNF levels were decreased in euthymic (p = 0.039) and manic (p < 0.001) individuals. Conversely, inflammatory (interleukin 6 (IL-6)) (p = 0.019) and oxidative stress (p = 0.003) measures were increased in bipolar individuals compared to controls. BDNF levels were associated with executive functioning (beta = 0.01, p = 0.02) and verbal memory (beta = 0.013, p = 0.005), together with other demographic variables. In particular, verbal memory was also associated with obesity (beta=-0.04, p = 0.005). Neither inflammatory markers, oxidative stress markers nor other relevant clinical variables showed any association with cognitive outcome. Conclusions: Of all the peripheral neurobiological factors analysed, BDNF was the only one significantly associated with cognitive dysfunction in bipolar disorder individuals. This study emphasizes the role of BDNF not only across mood phases but also in cognitive functioning. (C) 2019 Elsevier Masson SAS. All rights reserved.

关键词： Bipolar disorder BNDF Cognition Neurobiological factor

来源：评论

学校读者我要写书评

暂无评论

Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

引用

EPILEPSIA 2020年第5期61卷 971-983页

作者： Natera-de Benito, daniel Muchart, Jordi Itzep, Debora Ortez, Carlos Gonzalez-Quereda, Lidia Gallano, Pia Ramirez, Alia Aparicio, Javier Dominguez-Carral, Jana Carrera-Garcia, Laura Exposito-Escudero, Jessica Pardo Cardozo, Nathalia cuadras, daniel Codina, Anna Jou, Cristina Jimenez-Mallebrera, Cecilia Palau, Francesc Colomer, Jaume Arzimanoglou, Alexis Nascimento, Andres San Antonio-Arce, Victoria Hosp St Joan de Deu Inst Recerca Neuropaediat Dept Neuromuscular Unit Passeig St Joan de Deu 2 Barcelona Spain CIBERER U703 Passeig St Joan de Deu 2 Barcelona Spain Hosp St Joan de Deu Dept Radiol Barcelona Spain Hosp Santa Creu i St Pau Dept Genet Barcelona Spain CIBERER U705 Barcelona Spain Hosp St Joan de Deu Neuropaediat Dept Unit Epilepsy Sleep & Neurophysiol Barcelona Spain Fundacio St Joan de Deu Stat Dept Barcelona Spain Hosp St Joan de Deu Dept Pathol Barcelona Spain Hosp St Joan de Deu Dept Genet & Mol Med Barcelona Spain Inst Recerca St Joan de Deu Lab Neurogenet & Mol Med Barcelona Spain CIBERER Barcelona Spain Univ Barcelona Sch Med & Hlth Sci Inst Med & Dermatol Hosp Clin Barcelona Spain Univ Barcelona Sch Med & Hlth Sci Div Pediat Barcelona Spain Epileptol Sleep Disorders & Funct Pediat Neurol Bron France ERN EpiCARE Bron France Hosp Civils Lyon HFME Bron France

Objective To delineate the epileptic phenotype of LAMA2-related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype. Methods Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of LAMA2-related MD were analyzed. Results Epilepsy occurred in 36% of patients with LAMA2-related MD. Mean age at first seizure was 8 years. The most common presenting seizure type was focal-onset seizures with or without impaired awareness. Visual aura and autonomic signs, including vomiting, were frequently reported. Despite a certain degree of variability, bilateral occipital or temporo-occipital epileptiform abnormalities were by far the most commonly observed. Refractory epilepsy was found in 75% of these patients. Epilepsy in LAMA2-related MD was significantly more prevalent in those patients in whom the cortical malformations were more extensive. In contrast, the occurrence of epilepsy was not found to be associated with the patients' motor ability, the size of their white matter abnormalities, or the amount of residual merosin expressed on muscle. Significance The epileptic phenotype of LAMA2-related MD is characterized by focal seizures with prominent visual and autonomic features associated with EEG abnormalities that predominate in the posterior quadrants. A consistent correlation between epileptic phenotype and neuroimaging was identified, suggesting that the extension of the polymicrogyria may serve as a predictor of epilepsy occurrence.

关键词： EEG epilepsy LAMA2 MDC1A merosin seizures

来源：评论

学校读者我要写书评

暂无评论

Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

引用

BIOMEDICINE & PHARMACOTHERAPY 2021年 143卷 112143-112143页

作者： Paredes-Fuentes, Abraham J. Cesar, Sergi Montero, Raquel Latre, Cristina Genoves, Jordi Martorell, Loreto cuadras, daniel Colom, Helena Pineda, Merce del Mar O'Callaghan, Maria Sarquella-Brugada, Georgia Darling, Alejandra Artuch, Rafael Hosp St Joan de Deu Inst Recerca St Joan de Deu Clin Biochem Dept Barcelona 08950 Spain Hosp St Joan de Deu Inherited Cardiac Dis & Sudden Death Unit Arrhythmia Barcelona 08950 Spain Hosp St Joan de Deu Pharm Dept Barcelona 08950 Spain Hosp St Joan de Deu Mol Genet Dept Barcelona 08950 Spain Inst Recerca St Joan de Deu Stat Dept Barcelona 08950 Spain Univ Barcelona Fac Pharm & Food Sci Dept Pharm & Pharmaceut Technol & Phys Chem Barcelona Spain Hosp St Joan de Deu Metab & Ataxia Unit Dept Paediat Neurol Barcelona 08950 Spain Univ Girona Sch Med Med Sci Dept Girona 17004 Spain Inst Salud Carlos III Biomed Network Res Ctr Rare Dis CIBERER Madrid 28029 Spain

Introduction and objectives: Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal was to report plasma idebenone values in a cohort of Friedreich's ataxia (FRDA) patients during a long-term follow-up. Taking advantage of this, we also assessed cardiological and neurological status together with idebenone values and genetic background. Methods: Long-term follow-up retrospective study in 27 FRDA patients with a disease onset at the paediatric age treated with idebenone by compassionate use. Plasma idebenone was measured by HPLC with electrochemical detection. Results: Median plasma idebenone values increased when doses were increased, but apparently linearity was lost in the highest dose group. Marked intraindividual and interindividual differences were observed among patients. We did not find a consistent positive effect after analysis of paired data at the beginning and the end of the study. We only found a correlation between some cardiological measures and the duration of idebenone therapy at high doses, but with uncertain significance Conclusions: The large variations observed among the different individuals involved in this study should be considered for optimization of individual dosage regimens.

关键词： Plasma idebenone monitoring Long-term follow-up HPLC with electrochemical detection Friedreich's ataxia

来源：评论

学校读者我要写书评

暂无评论

Ileocolic intussusception: Predicting the probability of success of ultrasound guided saline enema from clinical and sonographic data

引用

JOURNAL OF PEDIATRIC SURGERY 2018年第4期53卷 599-604页

作者： Soria Gondek, Andrea Riaza, Lucia cuadras, daniel Tarrado Castellarnau, Xavier Krauel, Lucal Univ Barcelona Hosp St Joan de Deu Dept Pediat Surg Passeig St Joan de Deu 2 Barcelona 08950 Spain Univ Barcelona Hosp St Joan de Deu Dept Pediat Radiol Passeig St Joan de Deu 2 Barcelona 08950 Spain Fundacio St Joan de Deu Dept Stat Carrer Santa Rosa 39-57 Barcelona 08950 Spain Univ Barcelona Hosp St Joan de Deu Dept Pediat Surg Passeig St Joan de Deu Barcelona 08950 Spain

Background/purpose: To identify factors that dim the efficacy of ultrasound guided saline enema (USGSE) and to design a mathematical model for predicting the probability of success of USGSE. Methods: Retrospective review of patients admitted with the diagnosis of ileocolic intussusception from 2009 to 2014. Demographics, clinical and sonographic data were reviewed. Results: 116 first episodes of ileocolic intussusceptions. 109 USGSE attempts were analyzed. Composite reduction rate was 77%. A significant relationship was found between initial location of the intussusception, free peritoneal fluid (OR = 0.329, 95% CI: 0.124-0.875), negative Doppler signal and sonographic signs of intestinal occlusion and unsuccessful USGSE. Initial location beyond the splenic angle was an independent risk factor for USGSE failure (OR = 0.053, 95% CI: 0.005-0.534). A predictive model based on onset of symptoms, free peritoneal fluid and intussusception location was a reliable tool for prediction (AUC 0.63, 95% CI: 0.53-0.817). Assuming that a patient with less than 75.3% chance of USGSE success is going to fail, we would identify more than 80.9% of the real failures. Conclusions: This predictive model could be a filter selection for the patients at risk of USGSE failure and therefore candidates to further imaging investigations or referral to a surgical unit. (c) 2017 Elsevier Inc. All rights reserved.

关键词： Intussusceptions Ultrasound guided saline enema Prognostic factors Predictive model

来源：评论

学校读者我要写书评

暂无评论

Susceptibility to Severe Acute Respiratory Syndrome Coronavirus 2 Infection Among Children and Adults: A Seroprevalence Study of Family Households in the Barcelona Metropolitan Region, Spain

引用

CLINICAL INFECTIOUS DISEASES 2021年第12期72卷 E970-E977页

作者： Brotons, Pedro Launes, Cristian Buetas, Elena Fumado, Vicky Henares, Desiree Fernandez de Sevilla, Mariona Redin, Alba Fuente-Soro, Laura cuadras, daniel Mele, Maria Jou, Cristina Millat, Pere Jordan, Iolanda Jose Garcia-Garcia, Juan Bassat, Quique Munoz-Almagro, Carmen Inst Recerca St Joan de Deu Barcelona Spain Univ Int Catalunya Dept Med Barcelona Spain Consorcio Invest Biomed Red Epidemiol & Salud Pub Madrid Spain Univ Barcelona Hosp St Joan de Deu Pediat Dept Barcelona Spain Ctr Invest Saude Manhica Maputo Mozambique Hosp St Joan de Deu Dept Pathol Barcelona Spain Hosp St Joan de Deu Biobank Barcelona Spain Univ Barcelona Hosp Clin ISGlobal Barcelona Spain Inst Catalana Recerca & Estudis Avancats Pg Lluis Co 23 Barcelona Spain Hosp St Joan de Deu Dept Mol Microbiol P St Joan de Deu 2 Barcelona 08950 Spain

Background. Susceptibility of children and adults to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and persistence of antibody response to the virus after infection resolution remain poorly understood, despite their significant public health implications. Methods. A prospective cross-sectional seroprevalence study with volunteer families that included at least 1 first-reported adult case positive by SARS-CoV-2 by polymerase chain reaction (PCR) and at least 1 child aged <15 years living in the same household under strict home confinement was conducted in the metropolitan Barcelona Health Region, Spain, during the pandemic period 28 April 2020-3 June 2020. All household members were tested at home using a rapid SARS-CoV-2 antibody assay with finger prick-obtained capillary blood. Results. A total of 381 family households including 381 first-reported PCR-positive adult cases and 1084 contacts (672 children, 412 adults) were enrolled. SARS-CoV-2 seroprevalence rates were 17.6% (118 of 672) in children and 18.7% (77 of 335) in adult contacts (P = .64). Among first-reported cases, seropositivity rates varied from 84.0% in adults previously hospitalized and tested within 6 weeks since the first positive PCR result to 31.5% in those not hospitalized and tested after that lag time (P < .001). Nearly all (99.9%) positive children were asymptomatic or had mild symptoms. Conclusions. Children appear to have similar probability as adults to become infected by SARS-CoV-2 in quarantined family households but remain largely asymptomatic. Adult antibody protection against SARS-CoV-2 seems to be weak beyond 6 weeks post-infection confirmation, especially in cases that have experienced mild disease.

关键词： SARS-CoV-2 COVID-19 prevalence household antibody

来源：评论

学校读者我要写书评

暂无评论

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

引用

SCIENTIFIC REPORTS 2020年第1期10卷 1-13页

作者： Dominguez-Gonzalez, Cristina Badosa, Carmen Madruga-Garrido, Marcos Marti, Itxaso Paradas, Carmen Ortez, Carlos Diaz-Manera, Jordi Berardo, Andres Alonso-Perez, Jorge Trifunov, Selena cuadras, daniel Kalko, Susana G. Blazquez-Bermejo, Cora Camara, Yolanda Marti, Ramon Mavillard, Fabiola Martin, Miguel A. Montoya, Julio Ruiz-Pesini, Eduardo Villarroya, Joan Montero, Raquel Villarroya, Francesc Artuch, Rafael Hirano, Michio Nascimento, Andres Jimenez-Mallebrera, Cecilia 12 Octubre Hosp Neuromuscular Disorders Unit Neurol Dept Madrid Spain 12 Octubre Hosp Res Inst I 12 Madrid Spain Inst Salud Carlos III Biomed Network Res Ctr Rare Dis CIBERER Madrid Spain Hosp St Joan Deu Neuromuscular Unit Neuropediat Dept Inst Recerca St Joan Deu Barcelona Spain Univ Seville Hosp Univ Virgen Rocio Neuromuscular Disorders Unit Neuropediat DeptInst Biomed SevillaCSIC Seville Spain Hosp Univ Donostia Neuropediat Dept San Sebastian Spain Univ Seville Neuromuscular Disorders Unit Inst Biomed Sevilla Neurol DeptHosp Univ Virgen RocioCSIC Seville Spain Inst Salud Carlos III Biomed Network Res Ctr Neurodegenerat Dis CIBERNE Madrid Spain Univ Autonoma Barcelona Neuromuscular Dis Unit Hosp Santa Creu & St Pau Barcelona Spain Columbia Univ Dept Neurol Med Ctr New York NY USA Fdn St Joan Deu Stat Unit Barcelona Spain Moebius Res Ltd Syst Biomed London England Univ Autonoma Barcelona Res Grp Neuromuscular & Mitochondrial Dis Vall dHebron Inst Recerca Barcelona Spain Univ Zaragoza Inst Invest Sanitaria Aragon IIS Aragon Dept Bioquim & Biol Mol Zaragoza Spain Univ Barcelona Biochem & Mol Biol Dept Inst Biomed IBUB Inst Recerca St Joan Deu Barcelona Spain Inst Salud Carlos III Biomed Network Res Ctr Obes & Nutr CIBEROBN Madrid Spain Hosp St Joan Deu Inst Recerca St Joan Deu Clin Biochem Dept Barcelona Spain Univ Barcelona Fac Biol Genet Dept Barcelona Spain

GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF-15 and FGF-21 were measured in serum from 24 patients with TK2 deficiency treated 1-49 months with oral deoxynucleosides. Patients were grouped according to age at treatment and biomarkers were analyzed at baseline and various time points after treatment initiation. GDF-15 was elevated on average 30-fold in children and 6-fold in adults before the start of treatment. There was a significant correlation between basal GDF-15 and severity based on pretreatment distance walked (6MWT) and weight (BMI). During treatment, GDF-15 significantly declined, and the decrease was accompanied by relevant clinical improvements. The decline was greater in the paediatric group, which included the most severe patients and showed the greatest clinical benefit, than in the adult patients. The decline of FGF-21 was less prominent and consistent. GDF-15 is a potential biomarker of severity and of therapeutic response for patients with TK2 deficiency. In addition, we show evidence of clinical benefit of deoxynucleoside treatment, especially when treatment is initiated at an early age.

关键词：

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：