SVOA Paediatrics最新文献

{"title":"Parenteral Nutrition-Associated Cholestasis; A Comparison Between Soy-Based Lipids and Mix-Based Lipids in the High-Risk Surgical Neonates","authors":"Anas Shikha, Nadarajan Sudhakaran","doi":"10.58624/svoapd.2023.02.051","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.051","url":null,"abstract":"Background: Parenteral nutrition-associated cholestasis (PNAC) is a significant concern in high-risk surgical neonates, contributing to morbidity and prolonged hospitalization. This retrospective observational study aimed to investigate the impact of different lipid emulsions on the incidence and severity of PNAC in this vulnerable population while controlling for concomitant factors. Material and methods: A cohort of 67 surgical neonates was included, with 35 receiving IntralipidⓇ (IL) and 32 receiving SMOFlipidⓇ (SL). Rigorous inclusion criteria were applied to ensure comparability between the groups, focusing on the type of lipid emulsion as the main difference and selecting patients with prolonged fasting, limited oral intake, and significant PN reliance. The cumulative incidence of PNAC, absolute risk reduction (ARR), odds ratio (OR), and the effect on specific liver function tests, such as conjugated bilirubin (CB) and gamma-glutamyl transferase (GGT), were evaluated. Results: The SL group exhibited a significantly lower incidence of PNAC compared to the IL group (22% vs. 57%, p=0.0057), highlighting the potential protective effect of SL against PNAC development in surgical neonates. Subgroup analysis revealed a lower incidence of PNAC in full-term neonates receiving SL compared to IL (16% vs. 52%, p=0.0219), while the difference did not reach statistical significance in premature neonates. Furthermore, SL was associated with a marked reduction in the rise of CB levels compared to IL (34 vs. 66 umol/l, p=0.0093), indicating a potential hepatoprotective effect. Conclusions: This study emphasizes high-risk surgical neonates' susceptibility to PNAC. The incidence of PNAC exceeded reported rates in lower-risk neonates, highlighting their unique challenges. Although SL reduced PNAC risk compared to IL, the absolute rate remained high and of questionable benefit in surgical premature neonates. These findings prompt further investigation into the optimal lipid emulsion for this vulnerable population, weighing the benefits of SL against potential drawbacks.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"12 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135928468","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":"Cox10 Novel Variant in a Lebanese Female Patient with Congenital Cataracts","authors":"HMAIMESS Ghassan, EL-ACHKAR Ghewa, HAMOUCHE Naji, EID Marie-Therese, ABI SAAB Aimee, HAGE Pierre, MEGARBANE Andre, BARMADA Mamdouha, MANSOUR Hicham","doi":"10.58624/svoapd.2023.02.049","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.049","url":null,"abstract":"Mitochondrial disorders can present with a very wide clinical variability depending on the affected gene. Novel mutations in mitochondrial diseases are being identified more frequently than the past decades in the Lebanese population, where these disorders rank as the most common inborn errors of metabolism. Here we describe a novel COX10 variant in a female patient from south Lebanon, presenting with congenital cataracts, failure to thrive, microcephaly, global developmental delay and behavioral problems. The patient carries a not reported before missense mutation in the COX10 gene (c.514A>G p.(Thr172Ala)), confirming the diagnosis of a homozygous COX10 variant, in favor of Leigh syndrome The cataracts finding. This is to our knowledge the first reported patient with COX10 mutation presenting with congenital cataracts; thus, adding to the clinical spectrum of this disease.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136104916","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 Novel Variant of ASL Gene Mutation in a Lebanese Neonate with Severe Argininosuccinic Aciduria Phenotype","authors":"HAMOUCHE Naji, TOHME Rana, EL ACHKAR Mariella, HMAIMESS Ghassan, BAYDOUN Abed El Karim, SOKHN Maroun, GHABRIL Ramy, GHADIEH Joëlle M, NAOUFAL Rania, KHNEISSER Issam, FATTAH Mohamad, KHOURY Jacqueline, MANSOUR Hicham","doi":"10.58624/svoapd.2023.02.050","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.050","url":null,"abstract":"Argininosuccinic aciduria is a urea cycle defect associated with deficiency in argininosuccinate lyase enzyme, leading to a severe hyperammonemic encephalopathy, epilepsy and hepatopathy. Only very few known mutations have been linked with a severe phenotype. Here we report the case of a Lebanese newborn child with a very early manifestation of argininosuccinic aciduria, his genetic studies confirmed the presence of a mutation in the ASL gene (c.697A>C p. (Thr233Pro) at the homozygous state. To our knowledge, this is the first time this variant has been reported in literature.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"22 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136105739","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":"Propofol’s EEG Fast Activity is Dose-Dependent","authors":"Chloe B.H. Asato, Erica Y. Shin, Anna K. Gragas, Keith K. Abe, Loren G. Yamamoto","doi":"10.58624/svoapd.2023.02.048","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.048","url":null,"abstract":"Introduction: For patients with a first-time suspected seizure, electroencephalograms (EEG) are part of the initial evaluation. Most sedatives result in EEG artifact “fast activity” (FA), making the EEG difficult to read. During propofol-sedated EEGs, we noticed that FA would diminish when the propofol infusion rate was low. The purpose of this study is to investigate propofol dosing and its relationship to EEG FA artifact. Methods: This study involved retrospective chart reviews of a pediatric database for sedated EEG encounters in patients under 7 years of age. Data was collected from a total of 55 charts. Total doses of propofol (mg/kg/hr) were calculated for the first half and second half. The actual EEGs were reviewed by a pediatric neurologist study investigator, to classify the degree of FA as: none, mild, moderate, severe. We then examined whether total doses of propofol given during the EEG (mg/kg/hr) halves affected the severity of FA using ordinal logistic regression. Results: The results are summarized in Table 1, which shows that propofol doses (paired T-test, p<0.001) and EEG FA (Bowker’s test of symmetry, p=0.002) were higher in the first half compared to the second half. Figure 1 graphs each data point independently, which shows via linear and ordinal logistic regression a positive relationship between propofol dosing and FA severity (p=0.0014, OR=1.20, 95% CI=1.08-1.34, respectively). Results: The results are summarized in Table 1, which shows that propofol doses (paired T-test, p<0.001) and EEG FA (Bowker’s test of symmetry, p=0.002) were higher in the first half compared to the second half. Figure 1 graphs each data point independently, which shows via linear and ordinal logistic regression a positive relationship between propofol dosing and FA severity (p=0.0014, OR=1.20, 95% CI=1.08-1.34, respectively).","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"50 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136292604","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":"Septic Arthritis of Neonates: A Rare Case Report","authors":"Sushil Kumar Murali, Halwagi Abdelbaki, Mohamed Elbaz, Katie Hanafin, Mahesh Jain, Sara Elsayed, Musaddaq Inayat, Iviano R Ossuetta","doi":"10.58624/svoapd.2023.02.047","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.047","url":null,"abstract":"Neonatal septic arthritis is a rare condition which may present as an orthopedic emergency. The sequalae may be devastating in untreated cases. The presentation of neonatal septic arthritis could lead to multitude of differential diagnosis which consequentially delays the final diagnosis. It is very crucial to make an early diagnosis in such cases and commence prompt or timely appropriate management to prevent serious complications. Worldwide incidence in the neonatal age group is 0.3 per 1000 live births, although higher incidence of 0.6 per 1000 live birth has been reported in India, [1,2]. Older children are affected more than the younger age group and the hip joint is most commonly affected because of its unique anatomy and blood supply. The Pathogenic bacteria most commonly found to be responsible for septic arthritis are staphylococcus aureus, haemophilus influenza and streptococcus agalactiae (GBS). We are reporting a rare case of septic arthritis in the shoulder joint to a neonate caused by GBS bacteria, presenting as a late onset infection.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135045332","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 Case of Cardiac Regression in a Lebanese Patient with Duchenne Muscular Dystrophy Following the Discontinuation of Ataluren","authors":"Harb Tonia, Eid Marie-Therese, Megarbane Andre, Mansour Hicham","doi":"10.58624/svoapd.2023.02.046","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.046","url":null,"abstract":"Here we present the case of a 16 years old Lebanese boy diagnosed with a Duchenne muscle dystrophy secondary to a nonsence mutation, with clinical signs appearing by the age of 5 years and followed by the classical deterioration pattern of Duchenne muscle dystrophy. The patient was started on steroids at 6 years of age and was wheelchair bound by the age of 12. The patient was followed with yearly cardiac ultrasounds since the diagnosis that were always within normal limits. At the age of 14, the Ataluren was started on corticoids and then the medication was started at 40 mg/kg/day. After 3 months of treatment with Ataluren, the patient was able to move his lower limbs in a limited range, improvement was noted in his fine motor skills, and he reported decrease in muscle pain and fatigue during physical therapy sessions. The patient had a cardiac ultrasound after 3 months of treatment showing a normal left ventricular function with an ejection fraction of 53% and a left ventricle thickness of 45 mm. The medication was given for 1 year with noted motor improvement and stability of the cardiac function. One year later due to financial reasons the medication was stopped. After 3 months a regular clinical evaluation showed a persistence of the motor gains already acquired during the treatment period but the cardiac ultrasound showed a clear regression of the cardiac function with an increase in the thickness of the left ventricle to 53 mm and a decrease of the ejection fraction to 35% followed by a stabilization for 4 years. This finding highlights the importance of the continuity of treatment with Ataluren and suggests the risk of cardiac regression in case of rapid treatment discontinuation.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135547057","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 Long-Term Outcome of Abdominal Wall Defects Exomphalos &amp; Gastroschisis Retrospective Single Centre Study Children Hospital at Westmead, Sydney, Australia","authors":"Nageia Younis, Danny Cass, Andrew Holland","doi":"10.58624/svoapd.2023.02.045","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.045","url":null,"abstract":"Objective: To examine the natural history and detailed outcome of diagnosed cases of abdominal wall defects that admitted to The Children`s Hospital at Westmead. Methods: This was A retrospective single centre study of all cases of abdominal wall defects admitted between the 1st of October 1998 and the 1st of January 2007 to The Children`s Hospital at Westmead. The study had been conducted through a retrospective review of the neonatal, pediatric surgery records and subsequent follow-up information of all cases of Omphalocele and Gastroschisis diagnosed. Results: Ninety cases with anterior abdominal wall defects were admitted. Majority of the cases were born at Westmead Hospital. There were 25 neonates with Gastroschisis (27 females, 28 males), and 35 neonates with Exomphalos (15 females, 20 males). Eighty-one neonates had prenatal ultrasound diagnosis. Some neonates had associated congenital anomalies which results in five deaths (4 Exomphalos, 1 Gastroschisis). Post operative complications were common and the postoperative hospital stay was often lengthy. Twenty-five patients out of the ninety (15 Gastroschisis, 10 exomphalos) required further operations which were related to their primary diagnosis of Gastroschisis or Exomphalos, mostly for abdominal wall hernias. Conclusions: Long-term outcome was favourable in majority of cases with abdominal wall defects and mortality substantially happened in neonates with associated anomalies. Reoperations were necessary in those patients who had postoperative hernias.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"73 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136236323","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":"Conners Test for Screening of Traits Suggestive of Attention Deficit and Hyperactivity Disorder in Healthy School Children","authors":"Lapenta, José M","doi":"10.58624/svoapd.2023.02.044","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.044","url":null,"abstract":"Attention deficit hyperactivity disorder (ADHD) dysfunction of neurobiological origin manifested by immaturity in the systems that regulate the level of movement, impulsivity and attention in children and adolescents who suffer it. The study is framed under the non-experimental design of Field, descriptive level, using live sources taking the information in a single moment of time, the present, contemporary transectional design allowing the application of the Conners test in healthy schoolchildren in the Private Educational Unit \"San Jose Maristas”. July – August 2022. Maracay – Aragua. To detect traits suggestive of attention deficit hyperactivity disorder in this group of schoolchildren applied by parents and teachers. Obtaining as a result that the most prevalent sex is male in more than 70% of schoolchildren. There is no difference between the score established by both parents and teachers to establish the orientation of suspected cases of children with ADHD, observing differences in the clinical manifestations observed by parents, greater emphasis on inattention, hyperactivity and impulsiveness, in relation to teachers where they register behaviors related to greater frustration, impulsive, fighting, do not respect the rules and defy limits.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"2015 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136236325","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":"Parechovirus Neonatal Meningitis: A Case Report","authors":"Sushil Kumar Murali, Halwagi Abdelbaki, I. Ossuetta, Musaddaq Inayat","doi":"10.58624/svoapd.2023.02.043","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.043","url":null,"abstract":"Neonatal meningitis is a serious, potentially life- threatening condition that requires prompt diagnosis and treatment. Bacterial pathogens are usual suspects; however, viral cause should not be overlooked. We report a case of Parechovirus neonatal meningitis in an 8 days old male infant, emphasizing the importance of considering uncommon viral pathogens in the diagnostic work up. Human Parechovirus belongs to the family of Picornaviridae virus. It is very uncommon and has been associated with a benign clinical course of respiratory and gastrointestinal infection in most cases, however, it is emerging as one of the causes for emergency admission of neonates in hospital due to certain serotypes. The HPeV type 3 has been found mostly in children and young infants presenting with meningitis and sepsis like illness. Infants with severe Central Nervous System (CNS) infections are at an increased risk of long-term sequelae. In this case we describe the clinical presentation, diagnostic challenges, management and outcome of this rare infection. An 8 days old baby presented to our emergency department with sepsis like illness. He was admitted in neonatal unit for further investigations and management. Despite initial presentation the inflammatory markers were normal. Symptomatic-supportive treatment was given till baby made full recovery. Antibiotics were discontinued after 48 hours as culture was negative for bacteria. This case highlights the importance of considering Parechovirus as possible cause of neonatal meningitis when inflammatory markers are normal and plan the management appropriately.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130962822","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 Effect of COVID-19 on Infectious Disease to Outpatient of Children: A Machine Learning Study","authors":"Dan Li, Dan Xiang, Shun-Xian Zhang, Jinying Zheng","doi":"10.58624/svoapd.2023.02.042","DOIUrl":"https://doi.org/10.58624/svoapd.2023.02.042","url":null,"abstract":"The outbreak of coronavirus disease 2019 (COVID-19) has had a significant impact worldwide. However, the effects of COVID-19 on human enteroviruses such as Herpangina and Hand, Foot, and Mouth Disease (HFMD) in children are still not fully understood. This study aimed to analyze the reported cases of Herpangina and HFMD among child outpatients in Hangzhou, China, from January 2018 to June 2021, before, during, and after the COVID-19 outbreak. Machine learning approaches were employed to analyze the time series data of Herpangina and HFMD from 2018 to 2019 and predict the trends and seasonal patterns from 2020 to 2021. The seasonal patterns at weekly and monthly levels were compared across the three stages of the COVID-19 outbreak. Prior to 2020, the reported incidence of Herpangina and HFMD exhibited a certain degree of seasonal periodicity. However, following the COVID-19 outbreak in 2020, there was a sharp decrease in the cases of Herpangina and HFMD, followed by a rebound in the first half of 2021. The observed cases reached their highest peak in July 2020, showing a decrease of 93.6% for Herpangina and 96.5% for HFMD compared to the predicted values. These findings indicate that the COVID-19 outbreak had a significant impact on the transmission of Herpangina and HFMD. Therefore, integrated strategies should be implemented to control and prevent the resurgence of Herpangina and HFMD, alongside the effective management of COVID-19.","PeriodicalId":382758,"journal":{"name":"SVOA Paediatrics","volume":"28 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132334462","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}