Molecular and cellular pediatrics最新文献

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Perinatal origins of chronic lung disease: mechanisms-prevention-therapy-sphingolipid metabolism and the genetic and perinatal origins of childhood asthma. 慢性肺病的围产期起源:机制-预防-治疗-鞘脂代谢以及儿童哮喘的遗传和围产期起源。
Molecular and cellular pediatrics Pub Date : 2021-12-20 DOI: 10.1186/s40348-021-00130-y
Emily Wasserman, Stefan Worgall
{"title":"Perinatal origins of chronic lung disease: mechanisms-prevention-therapy-sphingolipid metabolism and the genetic and perinatal origins of childhood asthma.","authors":"Emily Wasserman,&nbsp;Stefan Worgall","doi":"10.1186/s40348-021-00130-y","DOIUrl":"https://doi.org/10.1186/s40348-021-00130-y","url":null,"abstract":"<p><p>Childhood asthma derives from complex host-environment interactions occurring in the perinatal and infant period, a critical time for lung development. Sphingolipids are bioactive molecules consistently implicated in the pathogenesis of childhood asthma. Genome wide association studies (GWAS) initially identified a link between alleles within the 17q21 asthma-susceptibility locus, childhood asthma, and overexpression of the ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3), an inhibitor of de novo sphingolipid synthesis. Subsequent studies of pediatric asthma offer strong evidence that these asthma-risk alleles correlate with early-life aberrancies of sphingolipid homeostasis and asthma. Relationships between sphingolipid metabolism and asthma-related risk factors, including maternal obesity and respiratory viral infections, are currently under investigation. This review will summarize how these perinatal and early life exposures can synergize with 17q21 asthma risk alleles to exacerbate disruptions of sphingolipid homeostasis and drive asthma pathogenesis.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"22"},"PeriodicalIF":0.0,"publicationDate":"2021-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8688659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39743102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Patho-mechanisms of the origins of bronchopulmonary dysplasia. 支气管肺发育不良起源的病理机制。
Molecular and cellular pediatrics Pub Date : 2021-12-11 DOI: 10.1186/s40348-021-00129-5
Mitali Sahni, Vineet Bhandari
{"title":"Patho-mechanisms of the origins of bronchopulmonary dysplasia.","authors":"Mitali Sahni,&nbsp;Vineet Bhandari","doi":"10.1186/s40348-021-00129-5","DOIUrl":"https://doi.org/10.1186/s40348-021-00129-5","url":null,"abstract":"<p><p>Bronchopulmonary dysplasia (BPD) continues to be one of the most common complications of prematurity, despite significant advancement in neonatology over the last couple of decades. The new BPD is characterized histopathologically by impaired lung alveolarization and dysregulated vascularization. With the increased survival of extremely preterm infants, the risk for the development of BPD remains high, emphasizing the continued need to understand the patho-mechanisms that play a role in the development of this disease. This brief review summarizes recent advances in our understanding of the maldevelopment of the premature lung, highlighting recent research in pathways of oxidative stress-related lung injury, the role of placental insufficiency, growth factor signaling, the extracellular matrix, and microRNAs.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"21"},"PeriodicalIF":0.0,"publicationDate":"2021-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39827686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Translational research approaches to study pediatric polycystic kidney disease. 儿童多囊肾病的转化研究方法
Molecular and cellular pediatrics Pub Date : 2021-12-09 DOI: 10.1186/s40348-021-00131-x
Max Christoph Liebau, Djalila Mekahli
{"title":"Translational research approaches to study pediatric polycystic kidney disease.","authors":"Max Christoph Liebau,&nbsp;Djalila Mekahli","doi":"10.1186/s40348-021-00131-x","DOIUrl":"https://doi.org/10.1186/s40348-021-00131-x","url":null,"abstract":"<p><p>Polycystic kidney diseases (PKD) are severe forms of genetic kidney disorders. The two main types of PKD are autosomal recessive and autosomal dominant PKD (ARPKD, ADPKD). While ARPKD typically is a disorder of early childhood, patients with ADPKD often remain pauci-symptomatic until adulthood even though formation of cysts in the kidney already begins in children. There is clinical and genetic overlap between both entities with very variable clinical courses. Subgroups of very early onset ADPKD may for example clinically resemble ARPKD. The basis of the clinical variability in both forms of PKD is not well understood and there are also limited prediction markers for disease progression for daily clinical life or surrogate endpoints for clinical trials in ARPKD or early ADPKD.As targeted therapeutic approaches to slow disease progression in PKD are emerging, it is becoming more important to reliably identify patients at risk for rapid progression as they might benefit from early therapy. Over the past years regional, national and international data collections to jointly analyze the clinical courses of PKD patients have been set up. The clinical observations are complemented by genetic studies and biorepositories as well as basic science approaches to elucidate the underlying molecular mechanisms in the PKD field. These approaches may serve as a basis for the development of novel therapeutic interventions in specific subgroups of patients. In this article we summarize some of the recent developments in the field with a focus on kidney involvement in PKD during childhood and adolescence and findings obtained in pediatric cohorts.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"20"},"PeriodicalIF":0.0,"publicationDate":"2021-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39959120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Imaging of peripheral vascular malformations - current concepts and future perspectives. 外周血管畸形的影像学-目前的概念和未来的展望。
Molecular and cellular pediatrics Pub Date : 2021-12-07 DOI: 10.1186/s40348-021-00132-w
Vanessa F Schmidt, Max Masthoff, Michael Czihal, Beatrix Cucuruz, Beate Häberle, Richard Brill, Walter A Wohlgemuth, Moritz Wildgruber
{"title":"Imaging of peripheral vascular malformations - current concepts and future perspectives.","authors":"Vanessa F Schmidt,&nbsp;Max Masthoff,&nbsp;Michael Czihal,&nbsp;Beatrix Cucuruz,&nbsp;Beate Häberle,&nbsp;Richard Brill,&nbsp;Walter A Wohlgemuth,&nbsp;Moritz Wildgruber","doi":"10.1186/s40348-021-00132-w","DOIUrl":"https://doi.org/10.1186/s40348-021-00132-w","url":null,"abstract":"<p><p>Vascular Malformations belong to the spectrum of orphan diseases and can involve all segments of the vascular tree: arteries, capillaries, and veins, and similarly the lymphatic vasculature. The classification according to the International Society for the Study of Vascular Anomalies (ISSVA) is of major importance to guide proper treatment. Imaging plays a crucial role to classify vascular malformations according to their dominant vessel type, anatomical extension, and flow pattern. Several imaging concepts including color-coded Duplex ultrasound/contrast-enhanced ultrasound (CDUS/CEUS), 4D computed tomography angiography (CTA), magnetic resonance imaging (MRI) including dynamic contrast-enhanced MR-angiography (DCE-MRA), and conventional arterial and venous angiography are established in the current clinical routine. Besides the very heterogenous phenotypes of vascular malformations, molecular and genetic profiling has recently offered an advanced understanding of the pathogenesis and progression of these lesions. As distinct molecular subtypes may be suitable for targeted therapies, capturing certain patterns by means of molecular imaging could enhance non-invasive diagnostics of vascular malformations. This review provides an overview of subtype-specific imaging and established imaging modalities, as well as future perspectives of novel functional and molecular imaging approaches. We highlight recent pioneering imaging studies including thermography, positron emission tomography (PET), and multispectral optoacoustic tomography (MSOT), which have successfully targeted specific biomarkers of vascular malformations.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"19"},"PeriodicalIF":0.0,"publicationDate":"2021-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39576736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
The role of the immune system in idiopathic nephrotic syndrome. 免疫系统在特发性肾病综合征中的作用。
Molecular and cellular pediatrics Pub Date : 2021-11-18 DOI: 10.1186/s40348-021-00128-6
Agnes Hackl, Seif El Din Abo Zed, Paul Diefenhardt, Julia Binz-Lotter, Rasmus Ehren, Lutz Thorsten Weber
{"title":"The role of the immune system in idiopathic nephrotic syndrome.","authors":"Agnes Hackl,&nbsp;Seif El Din Abo Zed,&nbsp;Paul Diefenhardt,&nbsp;Julia Binz-Lotter,&nbsp;Rasmus Ehren,&nbsp;Lutz Thorsten Weber","doi":"10.1186/s40348-021-00128-6","DOIUrl":"https://doi.org/10.1186/s40348-021-00128-6","url":null,"abstract":"<p><p>Idiopathic nephrotic syndrome (INS) in children is characterized by massive proteinuria and hypoalbuminemia and usually responds well to steroids. However, relapses are frequent, which can require multi-drug therapy with deleterious long-term side effects. In the last decades, different hypotheses on molecular mechanisms underlying INS have been proposed and several lines of evidences strongly indicate a crucial role of the immune system in the pathogenesis of non-genetic INS. INS is traditionally considered a T-cell-mediated disorder triggered by a circulating factor, which causes the impairment of the glomerular filtration barrier and subsequent proteinuria. Additionally, the imbalance between Th17/Tregs as well as Th2/Th1 has been implicated in the pathomechanism of INS. Interestingly, B-cells have gained attention, since rituximab, an anti-CD20 antibody demonstrated a good therapeutic response in the treatment of INS. Finally, recent findings indicate that even podocytes can act as antigen-presenting cells under inflammatory stimuli and play a direct role in activating cellular pathways that cause proteinuria. Even though our knowledge on the underlying mechanisms of INS is still incomplete, it became clear that instead of a traditionally implicated cell subset or one particular molecule as a causative factor for INS, a multi-step control system including soluble factors, immune cells, and podocytes is necessary to prevent the occurrence of INS. This present review aims to provide an overview of the current knowledge on this topic, since advances in our understanding of the immunopathogenesis of INS may help drive new tailored therapeutic approaches forward.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"18"},"PeriodicalIF":0.0,"publicationDate":"2021-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39902466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Does allogeneic stem cell transplantation in survivors of pediatric leukemia impact regular physical activity, pulmonary function, and exercise capacity? 同种异体干细胞移植对儿童白血病幸存者的常规身体活动、肺功能和运动能力有影响吗?
Molecular and cellular pediatrics Pub Date : 2021-11-04 DOI: 10.1186/s40348-021-00127-7
Katharina Ruf, Alaa Badran, Céline Siauw, Imme Haubitz, Paul-Gerhardt Schlegel, Helge Hebestreit, Christoph Härtel, Verena Wiegering
{"title":"Does allogeneic stem cell transplantation in survivors of pediatric leukemia impact regular physical activity, pulmonary function, and exercise capacity?","authors":"Katharina Ruf,&nbsp;Alaa Badran,&nbsp;Céline Siauw,&nbsp;Imme Haubitz,&nbsp;Paul-Gerhardt Schlegel,&nbsp;Helge Hebestreit,&nbsp;Christoph Härtel,&nbsp;Verena Wiegering","doi":"10.1186/s40348-021-00127-7","DOIUrl":"https://doi.org/10.1186/s40348-021-00127-7","url":null,"abstract":"<p><strong>Background: </strong>Allogeneic hematopoietic stem cell transplantation (allo-HSCT) has improved survival in high-risk childhood leukemia but is associated with long-term sequelae such as impaired pulmonary function and reduced exercise capacity impacting quality of life.</p><p><strong>Methods: </strong>A convenience sample of 17 patients after allo-HSCT (HSCT-12 male, age 15.7±6.7 years, time after HSCT 5.3±2.8 years) underwent pulmonary function testing, echocardiography, and an incremental exercise test on a bike. Physical activity and health-related quality of life were assessed by questionnaires (7-day physical activity recall, PEDS-QL). Seventeen healthy age- and gender-matched controls served as control group (CG) for results of pulmonary function and exercise testing.</p><p><strong>Results: </strong>HSCT showed reduced pulmonary function (HSCT vs. CG: FEV1 90.5±14.0 vs. 108.0±8.7%pred; FVC 88.4±19.3 vs. 107.6±6.9%pred, DLCO 75.3±23.6 vs. 104.9±12.8%pred) and exercise capacity (VO<sub>2</sub>peak 89±30.8%pred, CG 98±17.5%pred; Wmax 84±21.7%pred, CG 115±22.8%pred), but no relevant cardiac dysfunction and a good quality of life (PEDS-QL mean overall score 83.3±10.7). Differences in peak oxygen uptake between groups were mostly explained by 5 adolescent patients who underwent total body irradiation for conditioning. They showed significantly reduced diffusion capacity and reduced peak oxygen uptake. Patients reported a mean time of inactivity of 777±159min/day, moderate activity of 110±107 min/day, hard activity of 35±36 min/day, and very hard activity of 23±22 min/day. A higher amount of inactivity was associated with a lower peak oxygen uptake (correlation coefficient tau -0.48, p=0.023).</p><p><strong>Conclusions: </strong>This pilot study shows that although patients after allo-HSCT reported a good quality of life, regular physical activity and exercise capacity are reduced in survivors of stem cell transplantation, especially in adolescents who are treated with total body irradiation for conditioning. Factors hindering regular physical activity need to be identified and exercise counseling should be part of follow-up visits in these patients.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"16"},"PeriodicalIF":0.0,"publicationDate":"2021-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8569121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39680938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bacterial metabolites and cardiovascular risk in children with chronic kidney disease. 慢性肾病儿童的细菌代谢物与心血管风险
Molecular and cellular pediatrics Pub Date : 2021-10-22 DOI: 10.1186/s40348-021-00126-8
Julia Schlender, Felix Behrens, Victoria McParland, Dominik Müller, Nicola Wilck, Hendrik Bartolomaeus, Johannes Holle
{"title":"Bacterial metabolites and cardiovascular risk in children with chronic kidney disease.","authors":"Julia Schlender,&nbsp;Felix Behrens,&nbsp;Victoria McParland,&nbsp;Dominik Müller,&nbsp;Nicola Wilck,&nbsp;Hendrik Bartolomaeus,&nbsp;Johannes Holle","doi":"10.1186/s40348-021-00126-8","DOIUrl":"https://doi.org/10.1186/s40348-021-00126-8","url":null,"abstract":"<p><p>Cardiovascular complications are the major cause of the marked morbidity and mortality associated with chronic kidney disease (CKD). The classical cardiovascular risk factors such as diabetes and hypertension undoubtedly play a role in the development of cardiovascular disease (CVD) in adult CKD patients; however, CVD is just as prominent in children with CKD who do not have these risk factors. Hence, the CKD-specific pathophysiology of CVD remains incompletely understood. In light of this, studying children with CKD presents a unique opportunity to analyze CKD-associated mechanisms of CVD more specifically and could help to unveil novel therapeutic targets.Here, we comprehensively review the interaction of the human gut microbiome and the microbial metabolism of nutrients with host immunity and cardiovascular end-organ damage. The human gut microbiome is evolutionary conditioned and modified throughout life by endogenous factors as well as environmental factors. Chronic diseases, such as CKD, cause significant disruption to the composition and function of the gut microbiome and lead to disease-associated dysbiosis. This dysbiosis and the accompanying loss of biochemical homeostasis in the epithelial cells of the colon can be the result of poor diet (e.g., low-fiber intake), medications, and underlying disease. As a result of dysbiosis, bacteria promoting proteolytic fermentation increase and those for saccharolytic fermentation decrease and the integrity of the gut barrier is perturbed (leaky gut). These changes disrupt local metabolite homeostasis in the gut and decrease productions of the beneficial short-chain fatty acids (SCFAs). Moreover, the enhanced proteolytic fermentation generates unhealthy levels of microbially derived toxic metabolites, which further accumulate in the systemic circulation as a consequence of impaired kidney function. We describe possible mechanisms involved in the increased systemic inflammation in CKD that is associated with the combined effect of SCFA deficiency and accumulation of uremic toxins. In the future, a more comprehensive and mechanistic understanding of the gut-kidney-heart interaction, mediated largely by immune dysregulation and inflammation, might allow us to target the gut microbiome more specifically in order to attenuate CKD-associated comorbidities.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"17"},"PeriodicalIF":0.0,"publicationDate":"2021-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39542191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Proceedings of the 9th International Symposium on MDS and SAA in Childhood : Athens, Greece. 30 September-2 October 2021. 第九届儿童MDS和SAA国际研讨会论文集:希腊雅典,2021年9月30日至10月2日。
Molecular and cellular pediatrics Pub Date : 2021-10-11 DOI: 10.1186/s40348-021-00125-9
{"title":"Proceedings of the 9th International Symposium on MDS and SAA in Childhood : Athens, Greece. 30 September-2 October 2021.","authors":"","doi":"10.1186/s40348-021-00125-9","DOIUrl":"https://doi.org/10.1186/s40348-021-00125-9","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 Suppl 1","pages":"15"},"PeriodicalIF":0.0,"publicationDate":"2021-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39504998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis. 外显子组测序提示常染色体显性下尿路功能障碍和轻度遗传性痉挛性截瘫中DSTYK的一种新的杂合错义变异。
Molecular and cellular pediatrics Pub Date : 2021-10-04 DOI: 10.1186/s40348-021-00122-y
Clara Vidic, Marcin Zaniew, Szymon Jurga, Holger Thiele, Heiko Reutter, Alina C Hilger
{"title":"Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.","authors":"Clara Vidic,&nbsp;Marcin Zaniew,&nbsp;Szymon Jurga,&nbsp;Holger Thiele,&nbsp;Heiko Reutter,&nbsp;Alina C Hilger","doi":"10.1186/s40348-021-00122-y","DOIUrl":"https://doi.org/10.1186/s40348-021-00122-y","url":null,"abstract":"<p><strong>Introduction: </strong>DSTYK encodes dual serine/threonine and tyrosine protein kinase. DSTYK has been associated with autosomal-dominant congenital anomalies of the kidney and urinary tract and with autosomal-recessive hereditary spastic paraplegia type 23. Here, we report a father and his two dizygotic twin sons carrying a novel heterozygous missense variant in DSTYK, presenting with early onset lower urinary tract dysfunction due to dysfunctional voiding. Moreover, in the later course of the disease, both sons presented with bilateral spasticity in their lower limbs, brisk reflexes, and absence seizures.</p><p><strong>Materials and methods: </strong>Exome sequencing in the affected father and his affected sons was performed. The sons presented clinically with urinary hesitancy, dysfunctional voiding, and night incontinence till adolescence, while the father reported difficulty in voiding. In the sons, cystoscopy excluded urethral valves and revealed hypertrophy of the bladder neck and trabeculated bladder. Additionally, both sons were diagnosed with absence epilepsy in early childhood. Filtering of exome data focused on rare (MAF < 0.01%), autosomal-dominant variants, predicted to be deleterious, residing in highly conserved regions of the exome.</p><p><strong>Results: </strong>Exome analysis identified a novel, heterozygous missense variant (c.271C>A (p.Leu91Met)) in DSTYK segregating with the disease. In silico prediction analyses uniformly rated the variant to be deleterious suggesting the variant to be disease-causing in the family.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first report of early onset dysfunctional voiding, seizures, and bilateral spasticity of the lower limbs associated with a novel heterozygous dominant missense variant in DSTYK.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2021-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39485753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Correction to: Novel ways to monitor immunosuppression in pediatric kidney transplant recipients-underlying concepts and emerging data. 修正:监测儿童肾移植受者免疫抑制的新方法——基本概念和新数据。
Molecular and cellular pediatrics Pub Date : 2021-09-30 DOI: 10.1186/s40348-021-00124-w
Thurid Ahlenstiel-Grunow, Lars Pape
{"title":"Correction to: Novel ways to monitor immunosuppression in pediatric kidney transplant recipients-underlying concepts and emerging data.","authors":"Thurid Ahlenstiel-Grunow,&nbsp;Lars Pape","doi":"10.1186/s40348-021-00124-w","DOIUrl":"https://doi.org/10.1186/s40348-021-00124-w","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"8 1","pages":"14"},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39472684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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