SVOA Paediatrics最新文献_第3页

Non-Palliative Treatment and Follow-Up of Children with Genetic Forms of Nephrotic Syndrome: A Narrative Mini-Review 遗传性肾病综合征患儿的非姑息治疗及随访:一篇叙述性的综述

SVOA Paediatrics Pub Date : 2023-07-28 DOI: 10.58624/svoapd.2023.02.041

M. S. Tavares, Ana Carolina Resende Caldeira, Maria Clara Trettel de Oliveira

引用次数: 0

Softer Foam in Bicycle Helmets Reduces the Impact Force in a Simulation Model 在一个模拟模型中，自行车头盔中的软泡沫降低了冲击力

SVOA Paediatrics Pub Date : 2023-07-19 DOI: 10.58624/svoapd.2023.02.040

Davis J. Wong

{"title":"Softer Foam in Bicycle Helmets Reduces the Impact Force in a Simulation Model","authors":"Davis J. Wong","doi":"10.58624/svoapd.2023.02.040","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.040","url":null,"abstract":"Objective: This study compared the linear acceleration generated from an impact to a manikin's head wearing an off-the -shelf “standard” bicycle helmet (stdBH) compared to a modified bicycle helmet (modBH) (original foam replaced with softer polyolefin foam). Methods: Pairs of 5 different bicycle helmets from a wide price range ($20-$90) were tested (standard versus modified). The head impact was simulated by striking the test bicycle helmet placed onto the head of a Century BOB boxing manikin, with a conventional football helmet (4.6 kg additional weight added) swung from a 1.2 meter rope and released from an angle of 45º serially for multiple data points as in Figure 2. The manikin's bicycle helmet was struck by the football helmet in the frontal, left parietal, and occipital locations for 12 trials each. Each of three accelerometers located at the manikin’s forehead, apex of the head, and right ear collected data on linear acceleration in the X, Y, and Z planes. Results: Mean linear acceleration in G's (9.8 m/sec/sec) was obtained from the three accelerometer locations on the manikin's head for each striking position. The mean linear accelerations across the 5 different helmet pairs are summarized in the graphs (Figure 3). For each of the three striking locations, there were statistically lower striking forces sustained with the modified softer foam bicycle helmet (modBH) compared to the standard bicycle helmet (stdBH). The greatest reductions were observed in the apical accelerometers when the manikin was struck from the occipital and parietal locations. Conclusion: These results suggest that softer foams in bicycle helmets may reduce injury from bicycle accidents. Further research on this topic can lead to the development of safer and more effective bicycle helmets.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129986880","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}

引用次数: 0

Case Report of An Extreme Premature Infant with Multisystem Inflammatory Syndrome in Neonates (MIS-N) 极端早产儿合并新生儿多系统炎症综合征1例报告

SVOA Paediatrics Pub Date : 2023-07-10 DOI: 10.58624/svoapd.2023.02.038

Samer Bou Karroum, Ayachi Fakhreddine, O. Adesanya

{"title":"Case Report of An Extreme Premature Infant with Multisystem Inflammatory Syndrome in Neonates (MIS-N)","authors":"Samer Bou Karroum, Ayachi Fakhreddine, O. Adesanya","doi":"10.58624/svoapd.2023.02.038","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.038","url":null,"abstract":"COVID-19 pandemic hit the world hard affecting more than 500 million people. In the SARS-CoV-2 pandemic era, there has been various information on the effect of COVID-19 infected or exposed pregnant women on their neonates. SARS-CoV-2 virus causes a hyperinflammatory syndrome in neonates similar to what may be seen in multisystem inflammatory syndrome in children (MIS-C) but due to transplacental transfer of antibodies rather than a neonatal infection with COVID-19. Case reports about a new pattern of disease, called multisystem inflammatory syndrome of neonate (MIS-N), have been recently appearing. We reviewed the perinatal history, clinical features, and outcomes of a preterm neonate with features consistent with MIS-N related to maternal SARS-CoV-2 infection that was managed in Texas, United States, in 2022. The infant presented with multisystem organ failure at 12 to 15 days of life. All extensive work up for infectious causes on the neonate were negative. Her inflammatory biomarkers were elevated, and she improved with steroids and supportive treatment. The neonate’s anti-SARS-CoV-2 IgG was positive and the IgM was negative. Though rare, we speculate that maternal SARS-CoV-2 and other autoantibodies crossing the placenta caused MIS-N. Further studies and reviews are needed to evaluate pathophysiology and to further evaluate the available treatments.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127903536","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}

引用次数: 0

Immunological Response to Respiratory Syncytial Virus Infection 呼吸道合胞病毒感染的免疫反应

SVOA Paediatrics Pub Date : 2023-07-10 DOI: 10.58624/svoapd.2023.02.039

T. Ravindranath

引用次数: 0

Incontinentia Pigmenti: A Description of a Clinical Case. 色素失禁:一个临床病例的描述。

SVOA Paediatrics Pub Date : 2023-06-19 DOI: 10.58624/svoapd.2023.02.037

A. Adamchuk

{"title":"Incontinentia Pigmenti: A Description of a Clinical Case.","authors":"A. Adamchuk","doi":"10.58624/svoapd.2023.02.037","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.037","url":null,"abstract":"Bloch-Sulzberger syndrome is a rare genetic disease that has both cutaneous and extra cutaneous manifestations, is more common in females and in most cases, intrauterine male fetuses are detected. There is a report of isolated cases of the presence of the syndrome in males. The pathology manifests itself as a result of the NEMO (nuclear factor-kB essential modulator)/IKK-γ (inhibitor kappa kinase-γ) mutation of the gene located on the Xq28 chromosome. The skin is primarily affected by linearly arranged blisters. In this case, the inflammatory stage may be absent or manifest in utero. Skin manifestations are already present at birth and are difficult to differentiate between non-infectious and non-infectious manifestations. Treatment of skin symptoms of pigment incontinence is often not required as they may resolve spontaneously. However, it should be noted that the early diagnosis of skin manifestations, the significance of which, can be identified by identifying the affected target organs to identify and exclude the detection of fatal complications in the future. This disease is very important for the diagnosis of infectious and non-infectious skin diseases in young children and, in particular, neonatal periods. The presented case is a case from practice in the context of the work of a pediatrician, neonatologist with children with this pathology. In this clinical case, it is possible to trace the clinical picture of the disease in infancy with the further fate of the child for 7 years.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117284470","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}

引用次数: 0

Novel USP9X Mutation in A Lebanese Patient with Delay and Microcephaly: Case Report and Review of Literature 一名黎巴嫩延迟和小头症患者的新USP9X突变:病例报告和文献回顾

SVOA Paediatrics Pub Date : 2023-06-13 DOI: 10.58624/svoapd.2023.02.034

Pierre Ghostine, M. Seghaye, B. Romanos, Mohamad Fattah, H. Mansour

{"title":"Novel USP9X Mutation in A Lebanese Patient with Delay and Microcephaly: Case Report and Review of Literature","authors":"Pierre Ghostine, M. Seghaye, B. Romanos, Mohamad Fattah, H. Mansour","doi":"10.58624/svoapd.2023.02.034","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.034","url":null,"abstract":"Introduction: USP9X gene is located on the X-chromosome and encodes for an enzyme that regulates important substrates involved in neuronal growth and development. Thus, rare USP9X mutations were identified as directly causative of neurodevelopmental disorders (NDDs) and Intellectual Disability (ID) in homozygous males and more rarely in heterozygous females. In males, USP9X variants have been linked to an X-linked mental retardation syndrome that includes; central nervous system (CNS) abnormalities (white matter disturbances, thin corpus callosum, widened ventricles, and cerebellar defects), global delay with significant alteration of speech, language and behavior, hypotonia, joint hypermobility, digital abnormalities, gastro-intestinal symptoms, visual system defects and dysmorphic facial features. Patient Data: We report the rare case of a 3 years old and 8 months male patient presenting with NDD, ID, speech delay, progressive aggressive behavioral changes and CNS abnormalities (microcephaly, left periventricular lesion). He was found to have a USP9X variant carrying a missense mutation: USP9X, c.1870A>T p.(Met624Leu) on Whole-Exome Sequencing (WES). Discussion: Our patient had most of the important features of the previously described X-linked mental retardation syndrome but some were absent such as dysmorphic features, digital or visual abnormalities and hypotonia. Microcephaly rather than macrocephaly was noted, which could be an additional potential CNS malformation, expanding the spectrum of phenotypic characteristics of the USP9X variants. No associated congenital anomalies were noted that are usually more common in female subjects. Conclusion: This is to our knowledge the first reported case of a USP9X variant in Lebanon. The clinical characteristics matched most of the previously described features in the literature. Microcephaly was a new clinical feature not previously described and could be a new possible phenotypic characteristic of the disease.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121908887","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}

引用次数: 0

A Novel PSAP Gene Mutation in A Lebanese Patient with A Limited Phenotypic Expression 一种新的PSAP基因突变在黎巴嫩患者有限的表型表达

SVOA Paediatrics Pub Date : 2023-06-13 DOI: 10.58624/svoapd.2023.02.036

Mohamad Wehbe, Sacha Saad, Mohamad Fattah, H. Mansour

引用次数: 0

Prepyloric Diaphragm in Children: A Diagnosis Not to be Missed. 儿童幽门前膈:一个不容错过的诊断。

SVOA Paediatrics Pub Date : 2023-06-13 DOI: 10.58624/svoapd.2023.02.035

M. Masmoudi, Kais ben Jmaa, Moez Hsairi, M. Guermazi, R. Mhiri

引用次数: 0

Arrhythmia Profile in Children Presenting at a Tertiary Care Centre in India - From Fetal Life to Fifteen Years of Age Prabhu Shakuntala, Prabhshara 心律失常的儿童在三级保健中心在印度-从胎儿生活到15岁

SVOA Paediatrics Pub Date : 2023-04-25 DOI: 10.58624/svoapd.2023.02.031

Prabhu Shakuntala, Prabhsharan Kaur, Antonio D'Costa, S. Venkatesh, Shreepal Jain, Jayashree Mishra, Varsha Mane, M. Bodhanwala

{"title":"Arrhythmia Profile in Children Presenting at a Tertiary Care Centre in India - From Fetal Life to Fifteen Years of Age Prabhu Shakuntala, Prabhshara","authors":"Prabhu Shakuntala, Prabhsharan Kaur, Antonio D'Costa, S. Venkatesh, Shreepal Jain, Jayashree Mishra, Varsha Mane, M. Bodhanwala","doi":"10.58624/svoapd.2023.02.031","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.031","url":null,"abstract":"Many of the arrhythmias tend to be asymptomatic and detected incidentally, while some others may be picked up too late after a catastrophic presentation. The goal of this study was to document the arrhythmia profile in children presenting to our tertiary care hospital in India. We also reviewed the early and late outcomes of arrhythmias in these patients (including in isolated and post cardiac surgical patients). Amongst 100 patients with arrhythmias, 35% were detected incidentally for presentations like breathlessness (29%) and refusal to feed. A majority of patients (70%) did not have any underlying structural defect and had no cardiomegaly on chest X-Ray. Of those with structural defects, 90% were congenital with the majority being acyanotic (58%) and would have gone clinically undetected. 19 children (20%) presented with heart failure. Tachyarrhythmias (61%) were more common, and all the immediate deaths were from this group. Bradyarrhythmias were mostly complete heart blocks. Almost half the patients required emergency antiarrhythmics. Holter study was done to check for antiarrhythmic efficacy and to decide regarding pacing. In 48% cases, clinical management was changed based on the Holter report. Almost half the patients required emergency antiarrhythmics (adenosine, isoprenaline, amiodarone). The long-term outcomes were favorable with 50% of the patients not requiring long term antiarrhythmics and most remained asymptomatic. The need for interventional therapy like pacemaker insertion and radiofrequency ablation was less than 2%. Arrythmias in children have varied symptoms and pediatricians need to be aware about this. With optimal management, long term outcomes for these children are usually favorable.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"81 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122701981","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}

引用次数: 0

High Oral Challenge Success Rate in Almond-Sensitized Children 杏仁敏感儿童口腔攻击成功率高

SVOA Paediatrics Pub Date : 2023-04-25 DOI: 10.58624/svoapd.2023.02.033

Erika Cherk, J. Grissinger, V. Dimitriades

{"title":"High Oral Challenge Success Rate in Almond-Sensitized Children","authors":"Erika Cherk, J. Grissinger, V. Dimitriades","doi":"10.58624/svoapd.2023.02.033","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.033","url":null,"abstract":"Overuse of non-specific nut allergy panel testing has led to unnecessary almond avoidance for many children when almond IgE levels are elevated, despite lack of exposure or reaction history. We hypothesized that children with almond sensitization without a history of prior exposure to almonds would tolerate almond oral challenge. This retrospective chart review looked at 28 pediatric patients who underwent an almond oral food challenge (OFC) at our center between January 2017 and April 2021. Patient characteristics, almond IgE levels, and challenge outcomes were compared between patients with and without previous almond exposure. Overall, 96% (27/28) of patients passed the almond OFC, with most patients reporting almond avoidance due to elevated peanut IgE levels and/or positive tree-nut panel testing conducted prior to seeing us in clinic. Almond IgE levels ranged from 0.35 to 17.20 IU/ml, without a notable difference between the levels of exposed and non-exposed groups. Children who are sensitized to almond without prior exposure have a very high likelihood of passing an almond challenge regardless of almond IgE levels. Pediatricians should refer their almond-avoidant patients for allergist-directed OFCs, as expanding a child’s diet early can significantly lessen school and mealtime anxiety and dramatically improve the quality of life for these children and their families.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"343 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115406959","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}

引用次数: 0