Advances in pediatric research最新文献

{"title":"High facial specificity and positive predictive value are required to diagnose fetal alcohol syndrome when prenatal alcohol exposure is unknown.","authors":"Susan J Astley Hemingway","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Facial criteria with high specificity and positive predictive value (PPV) to prenatal alcohol exposure (PAE) are required to diagnose fetal alcohol syndrome (FAS) when documentation of PAE is unavailable. Not all fetal alcohol spectrum disorder (FASD) diagnostic guidelines appear to meet these criteria.</p><p><strong>Methods: </strong>A dataset generated from a 10-year FAS screening of 1,602 children in fostercare conducted by the University of Washington FAS Diagnostic & Prevention Network was used to determine how well the FAS facial phenotype, microcephaly and growth deficiency (individually and in combination at varying levels of magnitude) predicted PAE.</p><p><strong>Results: </strong>The 4-Digit-Code Rank 4 FAS facial phenotype was the only outcome that provided sufficient PPV and specificity to PAE (100%) to allow the facial phenotype to serve as confirmation of PAE in a diagnostic setting when PAE is unknown. Even minimal relaxation of the phenotype (e.g., Face Rank 3) resulted in PPV (35%) and specificity (88.7%) values too low to use as confirmation of PAE. Further relaxation of the facial criteria, as defined by the Hoyme et al., 2016 FASD guidelines, resulted in even lower PPV (17.9%) and specificity (76.6%); both too low to serve as confirmation of PAE in a diagnostic setting. The presence of all three physical features of FAS (Hoyme et al FAS facial phenotype, growth and OFC ≤10^th percentile) did not increase PPV beyond chance (52%).</p><p><strong>Conclusions: </strong>FASD diagnostic guidelines that use relaxed criteria for the FAS facial phenotype risk misdiagnosing and over-diagnosing FAS and partial FAS when PAE is unknown.</p>","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"7 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208451/pdf/nihms-1896753.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9589126","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":"The combined use of Adrenocorticotropic hormone (ACTH) and Calcineurin inhibitor (CNI) in the treatment of Refractory Nephrotic Syndrome in a child","authors":"Amirtha V. Chinnadurai, Julie E. Goodwin","doi":"10.35248/2385-4529.20.7.39","DOIUrl":"https://doi.org/10.35248/2385-4529.20.7.39","url":null,"abstract":"Background: Primary podocytopathies including Focal Segmental Glomerulosclerosis (FSGS) have been recognized to show variable responses to conventional treatment and overall prognosis. Persistent failure to respond to therapies remains a vexing problem for clinicians. ACTH has recently resurged as a therapy for treatment-resistant podocytopathies. We describe a case of steroid-resistant NS in a 10-year-old boy with a history of multiple failed secondary therapies, who showed partial response to biweekly ACTH therapy. Further clinical improvement was observed with the addition of the calcineurin inhibitor (CNI), tacrolimus. Case description: A 10-year-old Hispanic boy, diagnosed with frequently-relapsing steroid sensitive NS at the age of 2, and was largely relapse-free for 5 years on Cyclosporine A (CsA). Within two months after a trial off CsA, he relapsed. His course was complicated by more frequent relapses and steroid resistance. Renal biopsy performed at this time showed early focal segmental glomerulosclerosis (FSGS) and no signs of CsA-induced nephropathy. Whole exome sequencing revealed a heterozygous variant of uncertain significance in PLCE1 (Phospholipase C Epsilon 1). Trials of the steroid sparing agents tacrolimus and mycophenolate mofetil, both with and without steroids, were ineffective. He had several prolonged hospitalizations due to poorly controlled relapse. He became dependent on biweekly 25% albumin infusions. His renal function deteriorated from a baseline creatinine of 0.3 mg/dl to 0.7 mg/dl due to multiple episodes of acute kidney injury. ACTH initiated at a low dose of 40 units/1.73 m² biweekly was ineffective. Three months later, the dose was increased to 80 units/1.73 m² biweekly and he achieved partial remission and renal function returned to baseline. Tacrolimus was added at 6 months for synergy with trough levels maintained between 3-5 ng/ml. He achieved partial remission, and avoided further hospitalizations. Conclusion: ACTH alone or in combination with calcineurin inhibitor (CNI) can be a viable alternative for children who are resistant to other therapies. Variability in renal phenotype has been implicated with the PLCE1 (Phospholipase C Epsilon 1) gene. In this case, we suspect the role of his heterozygous variant PLCE1 mutation, or likely a compound heterozygous state with another unidentified mutation or modifiers or environmental factors, plays a role in the progression to a refractory NS state.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"7 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015571","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":"Rationale of goal directed therapies in children","authors":"C. Kumba","doi":"10.35248/2385-4529.20.7.42","DOIUrl":"https://doi.org/10.35248/2385-4529.20.7.42","url":null,"abstract":"Editorial highlighting the rationale of goal directed therapies (GDT) in children. Citation: Kumba C (2020) Rationale of goal directed therapies in children. Adv Pediatr Res 7:42. doi:10.35248/2385-4529.20.7.42 Received: June 29, 2020; Accepted: July 3, 2020; Published: July 10, 2020 Copyright: © 2020 Kumba. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Competing interests: The authors do not have any competing interests. Funding: There is no funding for this article. *E-mail: claudine.kumba@gmail.com","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"7 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015347","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":"A new classification of clinical findings and treatment options of SARS-CoV-2 infection in children from China","authors":"F. Jiao, S. Bittmann","doi":"10.35248/2385-4529.20.7.37","DOIUrl":"https://doi.org/10.35248/2385-4529.20.7.37","url":null,"abstract":"Since December2019, cases of SARS-CoV-2 coronavirus infection have been reported in Wuhan, Hubei province, and the epidemic continues to spread. SARS-CoV-2 infections in children seem to progress more mild and slowly as compared to adult courses with severe and some times fatal outcome. Severe or fatal cases in children are yet not described supposing any molecular difference in viral-receptor binding between spike protein and angiotensin II receptor. This manuscript presents a first and completely new classification of clinical findings and treatment options in children infected with SARS-CoV-19 virus.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"7 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015515","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 global burden of vaccine preventable infectious diseases in children less than 5 years of age: Can we do better?","authors":"L. Frenkel","doi":"10.35248/2385-4529.20.7.40","DOIUrl":"https://doi.org/10.35248/2385-4529.20.7.40","url":null,"abstract":"Globally an estimated 700,000 children under 5 years of age die of vaccine preventable diseases each year! Almost 99% of children who died lived in low-and middle-income countries. The leading risk factors for mortality include: lack of exclusive breast feeding, poor nutrition, indoor air pollution, low birth weight, crowding, poor hygiene, lack of access to health care, and most importantly lack of immunizations. Accurate specific pediatric infectious disease morbidity and mortality statistics are subject to many serious limitations, particularly in the less developed geographical regions (i.e., low-income). The major pathogens responsible for these deaths include: Streptococcus pneumoniae, Haemophilus influenzae type b, Bordetella pertussis, influenza virus, measles virus, and rotavirus. Issues regarding, the burden of disease mortality, disease transmission, available vaccines, as well as vaccine successes and shortcomings for specific pathogens are discussed. Although much success in preventing these childhood deaths has been made globally, much remains to be done.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"7 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015666","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":"Immune thrombocytopenic purpura in a twin girl revealed by a traumatic injury in parakou (North Benin)","authors":"Adedemy Jd, A. Noudamadjo, G. Kpanidja, J. Agossou, F. AgbeilleMohamed, Dovonou Ca","doi":"10.35248/2385-4529.19.6.27","DOIUrl":"https://doi.org/10.35248/2385-4529.19.6.27","url":null,"abstract":"Background: ITP seems to be rare but in tropical settings thrombocytopenia is often encountered among children. Objective: Authors through this case report are putting emphasy on the diagnosis and management of ITP in a 4 year old twin girl admitted in the pediatric emergency ward for hematuria and bleeding from various origins seen in the context of a domestic trauma. Results: The various clinical signs have been analyzed to confirm ITP through exclusion of other possible health conditions. The management of ITP depend on the severity of clinical signs and in some cases the situations can be life threatening. In this case report, Blood transfusion and corticosteroids were the main treatment tools. The hospital stay was about 4 days and an ambulatory follow up was conducted for almost 6 months. Conclusion: In the context of various bleeding disorders, hematuria and thrombocytopenia, autoimmune thrombocytopenia TP in a twin girl was revealed by a domestic trauma.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015089","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":"Comparison of the 4-Digit Code, Canadian 2015, Australian 2016 and Hoyme 2016 fetal alcohol spectrum disorder diagnostic guidelines.","authors":"Susan J Astley Hemingway,&nbsp;Julia M Bledsoe,&nbsp;Allison Brooks,&nbsp;Julian K Davies,&nbsp;Tracy Jirikowic,&nbsp;Erin Olson,&nbsp;John C Thorne","doi":"10.35248/2385-4529.19.6.31","DOIUrl":"10.35248/2385-4529.19.6.31","url":null,"abstract":"<p><strong>Background: </strong>As clinicians strive to achieve consensus worldwide on how best to diagnose fetal alcohol spectrum disorders (FASD), the most recent FASD diagnostic systems show convergence and divergence. Applying these systems to a single clinical population illustrates the contrasts between them, but validation studies are ultimately required to identify the best system.</p><p><strong>Methods: </strong>The 4-Digit-Code, Hoyme 2016, Canadian 2015 and Australian 2016 FASD diagnostic systems were applied to 1,392 patient records evaluated for FASD at the University of Washington. The diagnostic criteria and tools, the prevalence and concordance of diagnostic outcomes, and validity measures were compared between the systems.</p><p><strong>Results: </strong>The proportion diagnosed with fetal alcohol syndrome (FAS) and FASD varied significantly (4-Digit-Code 2.1%, ≤79%; Hoyme 6.4%, 44%, Australian 1.8%, 29%; Canadian 1.8%, 16%). Eighty-two percent were diagnosed FASD by at least one system; only 11% by all four systems. Key factors contributing to discordance include: requiring high alcohol exposure; excluding growth deficiency; relaxing the facial criteria; requiring brain criteria that prevent diagnosis of infants/toddlers; and excluding moderate dysfunction from the spectrum. Primate research confirms moderate dysfunction (1-2 domains ≤-2 standard deviations) is the most prevalent outcome caused by PAE (FAS 5%, severe dysfunction 31%, moderate dysfunction 59%). Only the 4-Digit-Code replicated this diagnostic pattern.</p><p><strong>Conclusion: </strong>The needs of individuals with FASD are best met when diagnostic systems provide accurate, validated diagnoses across the lifespan, the full spectrum of outcome, the full continuum of alcohol exposure; and utilize diagnostic nomenclature that accurately reflects the association between outcome and alcohol exposure.</p>","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934106/pdf/nihms-1058778.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37498980","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":"Iron deficiency with or without anemia and perspectives of perioperative management in children","authors":"C. Kumba","doi":"10.35248/2385-4529.19.6.33","DOIUrl":"https://doi.org/10.35248/2385-4529.19.6.33","url":null,"abstract":"Background: Iron deficiency anemia (IDA) is the most common cause of anemia in children. Iron deficiency (ID) is the most common cause of nutrient deficiency in the pediatric population. ID has various etiologies including decreased iron intake and absorption, increased iron requirement and loss. ID and IDA have been associated with adverse neurodevelopmental outcome in children. Anemia in children has been related with increased mortality. The prevalence of ID and IDA in children in the general population is 6.6% to 15.2% and 0.9% to 4.4% respectively in the USA according to one study. IDA and ID treatment includes iron supplementation and correction of anemia with this therapy can take several weeks. Anticipating treatment of iron deficiency anemia due to blood loss in the perioperative period seems intuitively an important issue to reduce blood transfusion in this setting. Since the latter has been shown to be predictive of adverse postoperative outcome in children. Evidence concerning reduction of blood transfusion requirements perioperatively when IDA and ID were diagnosed, prevented and treated preoperatively is lacking in the pediatric population. Objective: This narrative review was undertaken to determine the impact of preoperative management of ID and IDA on perioperative blood transfusion in children. Methods: Narrative review of the litterature. Conclusion and Results: There are no randomized controlled studies concerning the impact of preoperative management of ID and IDA on perioperative blood transfusion in children. There is evidence that ID and IDA diagnosis, prevention and treatment in the general pediatric population increase hemoglobin levels.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015257","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":"Future evolution of intraoperative goal directed fluid and hemodynamic therapy in children","authors":"C. Kumba","doi":"10.35248/2385-4529.19.6.29","DOIUrl":"https://doi.org/10.35248/2385-4529.19.6.29","url":null,"abstract":"Background: Recently a systematic review and meta-analysis was conducted to determine the impact of intraoperative goal directed fluid and hemodynamic therapy (GDFHT) in children and postoperative outcome. This study is part of a vast and extended Thesis Project concerning the impact of Goal Directed therapies on postoperative outcome in the pediatric population. This systematic review and meta-analysis of 23 randomized and non randomized controlled trials in 3389 children, of which more than 90% of the studies (21 among the 23 studies) concerned pediatric cardiac surgical patients, revealed that trials where GDFHT aiming to determine the impact on postoperative outcome in children were not developed compared to what has been realized in adults. However this trial showed that a lot of studies concerning hemodynamic monitoring in children were prospective, retrospective, observational and non interventional. These studies demonstrated the existence of parameters or biomarkers of adverse postoperative outcome in pediatric cardiac surgical patients. Namely cerebral, renal, splanchnic regional oxygen saturation, serum lactate levels, mixed central venous oxygen saturation and arterial to venous carbon dioxide difference. Systematic reviews and meta-analysis with high level evidence studies can help to elaborate recommendations for improvement implementation programs for clinical practice. Objective of this Editorial: To analyze the results, conclusions and future perspective of this recent systematic review and meta-analysis of the impact of intraoperative GDFHT on postoperative outcome in children. Methods: Editorial concerning the recent systemetic review and meta-analysis of the impact of intraoperative GDFHT on postoperative outcome in children. Results and Conclusion: This systematic review and meta-analysis of 23 non randomized and randomized controlled trials (RCT) evidenced that randomized controlled trials concerning the impact on perioperative GDFHT on postoperative outcome in children are lacking. Secondly, unoptimal intraoperative parameters mentioned above were predictors of adverse postoperative outcome in pediatric cardiac surgical patients. Finally RCT using these parameters in GDFHT protocols should be developed to clarify the influence of this therapy on postoperative outcome in children in cardiac and non cardiac surgical pediatric populations. In the present time there are no answers concerning the effect of intraoperative GDFHT on postoperative outcome in children. Thus research in this field is highly recommended.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70015236","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":"Climate change associated to an increase in congenital heart defects","authors":"Patricio Fern, ez Martorell","doi":"10.35248/2385-4529.18.6.25","DOIUrl":"https://doi.org/10.35248/2385-4529.18.6.25","url":null,"abstract":"Climate change causes a rise in global average temperatures and increases the number of extremely hot days every year in different regions of the world. The National Aeronautics and Space Administration Agency (NASA) defines climate change as: “a broad range of global phenomena created by burning fossil fuels, which add heat-trapping gases to Earth’s atmosphere. These phenomena include the increased temperature trends described as global warming”.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70014945","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}