Journal of pediatric biochemistry最新文献

{"title":"Contributing Reviewers in 2016","authors":"O. Boybeyi, N. Çakar, N. Çınar, L. Djouhri, K. Duraisamy, Alessandra Franco, Ravi Gupta, Roland Hentschel, M. K. Kanburoglu, Sanjeev Kothare, Eva Martínez-Cáceres, A. Nasr, Alin Noori-Zadeh, Oner Ozdemir, A. Ozdemir, S. Shehata, Lars Wagner, M. Wilińska","doi":"10.1055/s-0037-1602806","DOIUrl":"https://doi.org/10.1055/s-0037-1602806","url":null,"abstract":"","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"i - i"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57957405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sleep in Children with Neuromuscular Diseases","authors":"A. Onofri, E. Verrillo, R. Cutrera","doi":"10.1055/s-0037-1601559","DOIUrl":"https://doi.org/10.1055/s-0037-1601559","url":null,"abstract":"Abstract Neuromuscular diseases are a heterogeneous group of diseases affecting the nerves, muscles, anterior horn cells, or the neuromuscular junctions. They cause muscular weakness and, in most cases, involve the respiratory system, with a variable course that can lead to respiratory failure. Sleep disorders are often present in these patients, and their evaluation is necessary to assess the requirements for correct management. Hypoventilation, obstructive sleep apnea, and central apneas must be assessed and eventually treated with mechanical ventilatory support. Polysomnography with capnography is the gold standard in assessing sleep-disordered breathing. This review aims to provide an overview of the literature on the most common neuromuscular diseases with related sleep breathing disorders in children, highlighting the main features of sleep in these patients and the role of noninvasive ventilation in treating these conditions.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"191 - 198"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1601559","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57956729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Common Sleep Disorders in Children","authors":"J. Chawla, H. Heussler","doi":"10.1055/s-0037-1598613","DOIUrl":"https://doi.org/10.1055/s-0037-1598613","url":null,"abstract":"Abstract Sleep disorders are common in children and include both respiratory and non-respiratory causes. An awareness of these conditions is important due to the recognized complications of untreated sleep disorders in childhood. This review provides an overview of common sleep disorders in childhood including an overview of treatment options.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"172 - 178"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1598613","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57956701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normal Sleep from Infancy to Adolescence","authors":"S. Miano","doi":"10.1055/s-0037-1598611","DOIUrl":"https://doi.org/10.1055/s-0037-1598611","url":null,"abstract":"Abstract Age is presumably the essential factor in determining how humans sleep. Sleep patterns evolve in complex ways. This review is aimed to collect literature data about normal sleep, considering most relevant sleep studies published in the last decades, covering subjective and objective parameters, as well as neurophysiological studies on arousal development and sleep spectral analysis studies on sleep and brain maturation. According to subjective studies, sleep duration expresses the highest interindividual variability during the first years of life, becoming more stable across preschool and school ages, especially during weekend days or holidays. All these studies reported differences between sleep duration during weekday and weekend days, mostly due to earlier rise time for school time. Moreover, literature data showed a significant and worldwide decline in sleep duration and a later bedtime compared with the last century. Polysomnographic studies indicate that total sleep time in children older than 5 years did not really change with age, in contrast to what was generally suggested in several small studies. Changes seemed to be related to environmental factors rather than to biological changes. Studies about sleep microstructure (arousal levels, slow-wave activity, cyclic alternating pattern [CAP] analysis) need to be encouraged, considering the evident correlation between these sleep markers and sleep quality, brain maturation and cognition. Despite these evidences, there is a paucity of sleep normative data about CAP across developmental age, and many questions remain open about the scoring of arousals.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"160 - 171"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1598611","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57956656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Sleep Medicine","authors":"H. Tan, M. Villa","doi":"10.1055/s-0037-1603323","DOIUrl":"https://doi.org/10.1055/s-0037-1603323","url":null,"abstract":"It is only relatively recently that the importance of pediatric sleep medicine has begun to be recognized. Articles in the popular media and television programs have started to highlight the importance of sleep and helped elevate it up the public health agenda. In the United Kingdom, for example, there has been a tripling of hospital attendances for children (younger than 14 years) with sleep disorders in the past decade. Certainly, sleep problems can impact negatively on cardiovascular, neurocognitive, and metabolic systems; being associated with a wide range of negative health outcomes such as greater risk of obesity, poor school performance, lack of emotional control, and mental health issues. This special edition of Journal of Pediatric Biochemistry aims to highlight some of the latest literature in pediatric sleep medicine. To know what is abnormal, it is paramount first to understand what is normal. Dr. Miano summarizes normal sleep from infancy to adolescence, describing both subjective and objective parameters including sleep duration and neurophysiological studies on arousal development and sleep spectral analysis studies on sleep and brain maturation. She also discusses how there has been a significant and worldwide decline in sleep duration, and a later bedtime, compared with the past century. Dr. Silvestri and Dr. Aricò explore this theme further in their article on sleep duration and obesity where they critically appraise the literature linking how reduced sleep duration has an almost linear correlation with excessive weight and obesity in childhood, especially in young children. Worryingly, the full impact of the increased use of smartphones and tablets, known to interferewith sleep, may have yet to be seen. Dr. Chawla and Dr. Heussler provide an overview of the common sleep disorders in children, including both obstructive and central sleep-disordered breathing, and nonrespiratory sleep difficulties such as behavioral sleep insomnia of childhood and circadian rhythm disorders. Govi et al describe in detail one such sleep disorder— narcolepsy, which though uncommon, is a fascinating condition, and one inwhich clinicians needgreater awareness of, as there is often a significant delay in diagnosis of up to several years. They highlight the latest research into etiology, diagnosis, and treatment, and detail the features of this condition unique to the pediatric population. Onofri et al then summarize what we know about sleep disorders in a group of children who are particularly vulnerable to sleep problems, namely, those with neuromuscular disease. They systematically describe the common sleep problems seen in themain groups of neuromuscular diseases which will help clinicians understand when to screen for sleep-disordered breathing and how to treat. Finally, Gur et al highlight the latest research in the field of identifying biomarkers for obstructive sleep apnea (OSA). Currently, the gold standard investigation for the diagnosis of O","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"159 - 159"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1603323","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57957602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biomarkers for Sleep Apnea","authors":"M. Gur, Y. Toukan, L. Bentur, F. Hakim","doi":"10.1055/s-0037-1598638","DOIUrl":"https://doi.org/10.1055/s-0037-1598638","url":null,"abstract":"Abstract Obstructive sleep apnea (OSA) is a substantial medical problem with significant morbidity, both in the pediatric population and in adults. The gold standard for diagnosis and assessment of response to treatment has been overnight polysomnography. However, it is costly, time-consuming, and inconvenient to the patients. Thus, there is an emerging need for markers that would identify patients with OSA, especially those at risk for complications who require closer surveillance and more aggressive treatment. In recent years, a large number of studies have been conducted to search for the ideal biomarker in the blood and other body fluids, mainly urine, saliva, and exhaled breath. We present a literature review of current literature on biomarkers of OSA. We conclude that the ideal sole biomarker has not been found yet, but several markers have the potential to serve as screening tools; an array of markers, as well as analysis of epigenetic factors, could serve in diagnosis and in tailoring the best specific treatment for the single patient.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"199 - 208"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1598638","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57956217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sleep Duration and Obesity","authors":"R. Silvestri, I. Aricò","doi":"10.1055/s-0037-1598612","DOIUrl":"https://doi.org/10.1055/s-0037-1598612","url":null,"abstract":"Abstract Reduced sleep duration has an almost linear correlation with excessive weight and obesity in the pediatric population. This is especially true for the youngest population, less so for adolescents, whereas later on, this relationship tends to become U-shaped in middle-aged subjects. The level of physical activity is a crucial determinant of this correlation, with sedentary life and low activity level supporting obesity and poor quality sleep. Quality of life, school achievement, and emotional regulation are highly impacted by the short sleep–excessive weight dyad, as well as cardiometabolic indexes. The latter include blood pressure, glucose metabolism, and lipid profile, which all appear to be negatively affected, albeit less consistently, and thus with low quality evidence as far as the latest meta-analytic reviews are concerned. Obstructive sleep apnea (OSA) in children is also associated with alteration of sleep structure and with sleep fragmentation rather than sleep time reduction. Pediatric OSA recognizes two main phenotypes, lean and obese, the latter mostly typical of older children/adolescents, mainly males, with a more severe impact on inflammatory and metabolic indexes and a scarce cure rate after therapeutic adenotonsillectomy. Expanding sleep time and limiting obesity with appropriate sleep hygiene, adequate exercise levels, salutary nutritional advice, and screen time reduction may represent viable preventive tools to avoid more serious physical and mental consequences later in adult life.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"179 - 183"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1598612","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57956692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Narcolepsy Features in Young Patients","authors":"A. Govi, E. Antelmi, F. Pizza, F. Ingravallo, G. Plazzi","doi":"10.1055/s-0037-1602258","DOIUrl":"https://doi.org/10.1055/s-0037-1602258","url":null,"abstract":"Abstract Narcolepsy is a lifelong central hypersomnia characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnagogic hallucinations, and disrupted nocturnal sleep. Behavioral and psychiatric comorbidities are often associated clinical features. It is divided into two subtypes, narcolepsy type-1, and narcolepsy type-2, depending on the presence of cataplexy and the cerebrospinal fluid hypocretin-1 levels. An autoimmune process, along with environmental factors, has been hypothesized to cause the disease. Among children and adolescents, incidence in Europe falls between 0.14 and 0.3 in 100,000, with a reported increase in the incidence after the 2009 H1N1 pandemic influence and vaccination. Currently, specific pediatric diagnostic criteria and cut-off instrumental values are lacking. Clinical presentation of the disease may differ between children and adults, and misdiagnoses or diagnostic delays are still an issue. The treatment is based on behavioral and pharmacological therapy, but drugs in children are prescribed off-label. Overall, pathogenic mechanism of narcolepsy and data on drug efficacy in children are still limited: more research is needed to develop new drugs and to reach approval of current treatments in the pediatric population.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"184 - 190"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0037-1602258","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57957204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Dendritic Cells in Central Nervous System Autoimmunity: Focusing on Multiple Sclerosis and Emerging Therapeutics Targeting Dendritic Cells","authors":"N. Matin, R. Falsaperla, O. Tabatabaie, P. Pavone, R. Lubrano, G. Vitaliti","doi":"10.1055/s-0036-1597698","DOIUrl":"https://doi.org/10.1055/s-0036-1597698","url":null,"abstract":"Abstract Dendritic cells (DCs) are the sentinel innate immune cells that initiate antigen-specific adaptive immune responses. On the one hand, DCs have been extensively analyzed because of their roles in immune response against pathogens, and on the other hand, there are numerous other studies that have investigated their role in immune tolerance of autoimmune disorders such as type 1 diabetes, systemic lupus erythematosus, multiple sclerosis (MS), and psoriasis. The presence, recruitment, and activation of DCs in the cerebral spinal fluids of experimental allergic encephalomyelitis and MP models, initiated the long array of studies of pathogenic and the potential therapeutic role of DCs in MS. Many classic disease-modifying therapies that are employed have used strategies to alter the maturation and function of DCs; several other novel therapeutic strategies are currently under investigations, which we aim to briefly review in this article. We have focused on reviewing the role of DCs in the central nervous system (CNS), underlying their pathogenesis involvement, and proposing targeting therapies for autoimmune CNS disorders.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"27 5 1","pages":"121 - 135"},"PeriodicalIF":0.0,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1597698","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57956056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toward a Better Understanding of the Use of Targeted Therapies in Pediatric Sarcoma Patients","authors":"L. Wagner","doi":"10.1055/s-0036-1597608","DOIUrl":"https://doi.org/10.1055/s-0036-1597608","url":null,"abstract":"Sarcomas account for one-seventh of all pediatric cancers, and patients whose tumors recur following initial therapy often do not survive. Although there are occasional extraordinary responders, care for most patients with metastatic recurrence becomes palliative at some point. In the search for new strategies for children with relapsed sarcoma, targeted therapies are attractive, as they offer the hope of exploiting specific metabolic pathways, important for tumor growth. These targeted therapies are usually outpatient medicines that have less myelosuppression in heavily pretreated patients when compared with conventional cytotoxic agents.1 For these and other reasons, many pediatric oncologists prescribe off-label targeted therapies for relapsed sarcoma patients, although there is little in the medical literature about this practice. In this issue of Journal of Pediatric Biochemistry, Garnier et al report data from a French registry of prospectively treated patients with relapsed pediatric sarcoma who received targeted therapies at the discretion of the treating physician.2 This cohort of 34 patients was not eligible for other clinical trials, and treatment decisions were made without genetic evaluation of tumor tissue. The majority of patients received a targeted agent in combination with standard chemotherapy. Although there are methodological issues that limit firm conclusions from this study, the findings do provide insight into practice patterns and potential benefits and toxicities of these agents in recurrent sarcoma patients, and represent a good attempt at prospectively collecting data on patients treated outside of the typical clinical trial. While a few childhood tumors such as anaplastic large cell lymphoma or subependymal giant cell astrocytoma have had dramatic and consistent responses to single-agent targeted therapies,3,4 this has not been the case so far with pediatric sarcoma. Instead, the most likely path forward will be to combine targeted agents with conventional cytotoxics, as evidenced in Garnier et al’s study in which half of the responders were also receiving standard chemotherapy drugs. This approach has already been shown useful for neuroblastoma, in which combining the anti-GD2 antibody dinutuximab with the chemotherapy backbone of temozolomide plus irinotecan has shown very encouraging activity in patients with relapsed or refractory high-risk disease.5 This strategy of coupling targeted agents with conventional cytotoxics is now being tested in cooperative group studies for metastatic Ewing sarcoma (clinical trials.gov identifier NCT02306161), rhabdomyosarcoma (NCT01871766), and other soft tissue sarcomas (NCT02180867). For osteosarcoma, the search for the best targeted therapyagent for combination continues, with single-agent trials being conducted in phase II studies of patients with relapsed disease (NCT02470091, NCT02484443, NCT02487979). As oncologists await these results, the question remains how best to treat","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"06 1","pages":"119 - 120"},"PeriodicalIF":0.0,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1597608","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"57955970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}