Molecular and cellular pediatrics最新文献

{"title":"Subcutaneous fat necrosis in newborns: a systematic literature review of case reports and model of pathophysiology.","authors":"Leonie Frank,&nbsp;Stephanie Brandt,&nbsp;Martin Wabitsch","doi":"10.1186/s40348-022-00151-1","DOIUrl":"https://doi.org/10.1186/s40348-022-00151-1","url":null,"abstract":"<p><strong>Background: </strong>Subcutaneous fat necrosis of the newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically, the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases, SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN is hypercalcaemia. Pathophysiological mechanisms causing SCFN or associated hypercalcaemia are not fully understood yet.</p><p><strong>Methods: </strong>A systematic literature research including the six biggest databases for medical research has been used to identify all published case reports of SCFN. N = 206 publications has been identified containing n = 320 case reports. All cases have been classified into four subgroups (depending on reported serum-calcium-level): hypercalcaemia, normocalcaemia, hypocalcaemia or no information given. Reported maternal factors, birth characteristics, details about SCFN, diagnostics, therapy and long-term observations have been extracted from publications.</p><p><strong>Results: </strong>This is the first systematic literature research that summed up all published cases of SCFN from 1948 up to 2018. Information about serum calcium level was given in 64.3% of the cases. From those, the majority showed hypercalcaemia (70.5%) (normocalcaemia 25.1%, hypocalcemia 4.3%). 89.3% of newborns with hypercalcaemia showed suppressed levels of the parathormone. Maternal gestational diabetes, maternal hypertensive diseases during pregnancy, macrosomia (> 4000g), asphyxia and therapeutic hypothermia are risk factors for SCFN. Histological findings showed a granulomatous inflammation in 98% of cases.</p><p><strong>Conclusion: </strong>We identified that maternal, birth characteristics and therapeutic measures are probably risk factors for SCFN. These risk factors should be taken into account within the care of neonates.</p>","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":"9 1","pages":"18"},"PeriodicalIF":0.0,"publicationDate":"2022-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10623827","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}

{"title":"Ultrasound elastography in children — nice to have for scientific studies or arrived in clinical routine?","authors":"H. Mentzel, K. Glutig, Stephanie Gräger, Paul C. Krüger, M. Waginger","doi":"10.1186/s40348-022-00143-1","DOIUrl":"https://doi.org/10.1186/s40348-022-00143-1","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47122683","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":"How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease—what can we learn for future treatment?","authors":"M. Bartosova, S. Zarogiannis, C. Schmitt, Klaus Gema Aysun K. Rainer Salim Rimante Dorota Sahar Gü Arbeiter Ariceta Bayazit Büscher Caliskan Cerkausk, K. Arbeiter, G. Ariceta, A. Bayazıt, R. Büscher, S. Çalışkan, R. Čerkauskienė, D. Drożdż, S. Fathallah-Shaykh, G. Klaus, R. Krmar, J. Oh, V. Peters, U. Querfeld, B. Ranchin, P. Sallay, B. Schaefer, C. Taylan, S. Testa, J. Vandewalle, E. Verrina, K. Vondrák, B. Warady, Y. Yap, A. Zaloszyc","doi":"10.1186/s40348-022-00141-3","DOIUrl":"https://doi.org/10.1186/s40348-022-00141-3","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41895546","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":"When inflammation meets lung development—an update on the pathogenesis of bronchopulmonary dysplasia","authors":"Lena Holzfurtner, T. Shahzad, Ying Dong, Lisa Rekers, Ariane Selting, B. Staude, Tina Lauer, A. Schmidt, S. Rivetti, K. Zimmer, Judith Behnke, S. Bellusci, H. Ehrhardt","doi":"10.1186/s40348-022-00137-z","DOIUrl":"https://doi.org/10.1186/s40348-022-00137-z","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43276843","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":"Uni-ventricular palliation vs. bi-ventricular repair: differential inflammatory response","authors":"M. Sigler, H. Rouatbi, J. Vázquez-Jiménez, M. Seghaye","doi":"10.1186/s40348-022-00138-y","DOIUrl":"https://doi.org/10.1186/s40348-022-00138-y","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44725631","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":"Correction to: Precision medicine in pediatric oncology","authors":"S. Burdach, M. Westhoff, M. Steinhauser, K. Debatin","doi":"10.1186/s40348-022-00140-4","DOIUrl":"https://doi.org/10.1186/s40348-022-00140-4","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48599681","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":"DMBT1 is upregulated in cystic fibrosis, affects ciliary motility, and is reduced by acetylcysteine","authors":"Alexander Kiefer, Erika Plattner, R. Ruppel, C. Weiss, Z. Zhou-Suckow, M. Mall, M. Renner, H. Müller","doi":"10.1186/s40348-022-00136-0","DOIUrl":"https://doi.org/10.1186/s40348-022-00136-0","url":null,"abstract":"","PeriodicalId":74215,"journal":{"name":"Molecular and cellular pediatrics","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49654119","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":"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}

{"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}

{"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}