Fahad A. Bashiri , Abdullah Al dosari , Muddathir H. Hamad , Amal Y. Kentab , Ali H. Alwadei
{"title":"Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center","authors":"Fahad A. Bashiri , Abdullah Al dosari , Muddathir H. Hamad , Amal Y. Kentab , Ali H. Alwadei","doi":"10.1016/j.ijpam.2021.11.003","DOIUrl":"10.1016/j.ijpam.2021.11.003","url":null,"abstract":"<div><h3>Purpose and Background</h3><p>To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia.</p></div><div><h3>Methods</h3><p>This retrospective study reviewed the medical and EEG records of patients who were diagnosed to have CAE as per the International League Against Epilepsy (ILAE) definition for CAE. The study was conducted in the pediatric neurology clinic of King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia, between January 2000 and December 2019. Patients who did not meet (ILAE) criteria, lost follow-up, and those who did not receive treatment at KKUH were excluded. Data regarding the patient's disease, electro-clinical manifestations, anti-seizure medication response, and outcomes were collected.</p></div><div><h3>Results</h3><p>A total of 35 patients, with an average age at diagnosis of 7 ± 2.1 y, were included in the study; among them, 51.4% were female and approximately 48.6% presented with a family history of epilepsy. Regarding clinical features, all patients experienced staring and altered awareness, 94.2% had less than 20 spells per day at the time of diagnosis, and 65.7% were provoked by the hyperventilation test. Regarding EEG findings, all patients had bilateral, symmetrical, and synchronous discharges in the form of regular 3 Hz spike-and-wave complexes, and 94.3% had a generalized initial ictal discharge. Also, 22.8% had eye fluttering with electrographic seizures. Ethosuximide (ESM) was used as the drug of choice in 45.7% of the patients. Regarding clinical outcomes, 94.3% had their disease clinically controlled, and 80% had a normalized EEG after few months of starting anti-seizure medication. Finally, 37.2% experienced complete remission of epilepsy after 3–5 y; however, one patient developed juvenile myoclonic epilepsy.</p></div><div><h3>Conclusion</h3><p>This study described the electro-clinical manifestations of patients with childhood absence epilepsy and outcomes. Furthermore, early diagnosis and prompt treatment of childhood absence epilepsy improve treatment outcomes.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 131-135"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352646721000922/pdfft?md5=875ce273918bccd7ca4db1e0357320bc&pid=1-s2.0-S2352646721000922-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90301432","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":"Pediatric and adolescent mood disorders: An analysis of factors that influence inpatient presentation in the United States","authors":"Saanie Sulley , Memory Ndanga , Nana Mensah","doi":"10.1016/j.ijpam.2021.01.002","DOIUrl":"10.1016/j.ijpam.2021.01.002","url":null,"abstract":"<div><h3>Background</h3><p>Mental health is an essential aspect of health and wellbeing that the general population often overlooks. This study aims to utilize a nationwide sample [Healthcare Cost and Utilization Project (HCUP) Kid’s Inpatient Database (KID)] to analyze the factors affecting inpatient mood disorder admissions in the United States.</p></div><div><h3>Methods</h3><p>A total of 295,472 cases ages 1–20 were identified to meet the criteria (Appendix A) for the selected mood disorders from the HCUP KID 2016 dataset. We conducted descriptive statistics of the individual diagnosis. We evaluated the relationships with variables such as age (grouped), sex, region, disposition, household income, race, rural-urban demographics, and mean charges. We also conducted association tests for the variables of interest.</p></div><div><h3>Results</h3><p>An average of six days LOS was observed for mood disorders compared to four days LOS for other pediatric inpatient admissions nationwide. The highest prevalence rate (per 100,000) of single (5050), recurrent (2284) episode MDD and bipolar disorder (2445) was observed among no charge (uninsured) populations. The native American population had the highest rate prevalence of single episode MDD (3274) and highest extreme and significant loss of function at presentation. The highest manic episode presentation rate was observed among Black (12) and Native American (9) populations. Manic episodes and bipolar disorder were higher among young adults (47 and 4554); teenagers (13–17) showed a higher presentation rate for all other mood disorders.</p></div><div><h3>Conclusion</h3><p>No charge (uninsured), teenagers (13–17), females, native Americans, and south and midwest regions showed a higher rate of mood disorder presentations among the population. Understanding these variances could play a vital role in highlighting the need for new innovative care approaches. Comprehensive mental health programs in collaboration with educational and community organizations and other stakeholders could be vital to addressing mood and mental health among these populations. This approach tackles several social influencers such as stigma and support to ensure effectiveness and sustainability.conclusion.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 89-97"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijpam.2021.01.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10254977","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":"Oral enoximone allows the reduction and discontinuation of inhaled steroids and beta2 agonists in asthmatic children","authors":"Jan Beute, Alex KleinJan","doi":"10.1016/j.ijpam.2021.02.002","DOIUrl":"10.1016/j.ijpam.2021.02.002","url":null,"abstract":"<div><p>In the last two decades, improvement on asthma treatment has been merely marginal for both adults and children; inhaled corticosteroids (ICS) combined with β-2-mimetics remain the main therapy [3,4]. “New” therapies are just variations on ICS or, for children, on various other drugs that were allowed for adult asthma patients (clinicaltrials.gov). Although currently monoclonal antibodies have been introduced to the field, there is still a large therapeutic burden, given the mortality rate and widespread prevalence of uncontrolled asthma [2]. A simple and adequate way to reduce distress and costs would have great merit. PDE3 inhibitor enoximone was used earlier in successful treatment of life-threatening bronchial asthma (status asthmaticus) as well as in preoperative settings to prevent patients with severe asthma from suffering major surgery-related exacerbations; also, translational mice models showed the anti-inflammatory effects when PDE3 was targeted. Both outcomes suggested a beneficial effect of enoximone in severe chronic asthma. We hypothesized that enoximone might also be helpful in patients with severe chronic asthma; hence, we treated (and followed) > 70 patients (age 0–77, all volunteers) with personalized low doses of enoximone (orally), among them 11 minors, who are described here. Both children and adults reported improvement and/or alleviation of their asthma symptoms. All patients reported a better quality of life and greater drug compliance. The drug was well tolerated and showed no/negligible side effects. Notable bonus: asthma-related comorbidities (allergies, eczema, and rhinitis) were reported also to be less severe or even to disappear. The evaluation shows that PDE3 inhibitor enoximone is an adequate alternative for or addition to current asthma therapeutics, as add-on as well as stand-alone, considerably reducing the use of β-2-mimetics/ICS, with no or negligible side effects. Additional studies are advisable.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 147-151"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijpam.2021.02.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88218943","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}
Giovanna Beauchamp , Mary M. Barr , Ariana Vergara , Ambika Ashraf , Fernando Bril
{"title":"Treatment of hyperglycemia not associated with NAFLD improvement in children with type 2 diabetes mellitus","authors":"Giovanna Beauchamp , Mary M. Barr , Ariana Vergara , Ambika Ashraf , Fernando Bril","doi":"10.1016/j.ijpam.2021.02.007","DOIUrl":"10.1016/j.ijpam.2021.02.007","url":null,"abstract":"<div><h3>Background and objectives</h3><p>Nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM) have become public health problems in the pediatric population. However, the relationship between these two conditions is not well understood. The primary objective of this study was to assess whether treatment of hyperglycemia in obese, treatment-naive children with type 2 diabetes (T2DM) was associated with an improvement of surrogate markers of NAFLD.</p></div><div><h3>Materials and methods</h3><p>This retrospective, longitudinal study included 151 obese children with a diagnosis of T2DM (Age: 14 ± 1 years, 72% female children, BMI: 98.6th percentile, and A1c: 10.3 ± 0.2%). Clinical/demographic information was collected before patients started any diabetes treatment and 1 and 3 years after starting metformin and/or insulin therapy.</p></div><div><h3>Results</h3><p>Forty-eight patients (32%) had abnormal ALT/AST (i.e., >40 U/L), suggestive of NAFLD. After 1 year of therapy, there were no significant differences in plasma ALT among patients started on insulin, metformin, or combination: 5±4 vs. −10 ± 3 vs. −2±2 IU/L, respectively, <em>P</em> = .07. Of note, changes in plasma ALT were small, despite a significant reduction of A1c in patients prescribed insulin (alone or with metformin): -2.8 ± 1.0%, <em>P</em> = .01, and −2.7 ± 0.3%, <em>P</em> < .001, respectively. In line with this, no significant correlations were found between changes in A1c and plasma aminotransferases. In contrast, changes in plasma AST/ALT were more strongly associated with BMI changes (r = 0.32, <em>P</em> < .001, and r = 0.19, <em>P</em> = .04, respectively). Similar results were observed after 3 years of follow-up.</p></div><div><h3>Conclusions</h3><p>Nonalcoholic fatty liver disease is highly prevalent in obese children with T2DM. Treatment of hyperglycemia with metformin and/or insulin did not result in any significant improvement in surrogate markers of NAFLD (i.e., plasma aminotransferases). While changes in ALT and/or AST may not perfectly reflect histological changes in NAFLD, our findings suggest that the treatment of hyperglycemia <em>per se</em> may not be associated with NAFLD improvement.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 83-88"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijpam.2021.02.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88282695","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}
Mette Pedersen , Anders Overgård Jønsson , Christian F. Larsen
{"title":"Genetics and voice production in childhood and adolescence – a review","authors":"Mette Pedersen , Anders Overgård Jønsson , Christian F. Larsen","doi":"10.1016/j.ijpam.2021.02.005","DOIUrl":"10.1016/j.ijpam.2021.02.005","url":null,"abstract":"<div><p>Adolescence is a challenging time of change in voicing, normally and in pathology. An increased focus on voice production in relation to genetics can expand our knowledge of the onset of puberty and voice change. Our aim with this review was to connect research of genetics to voice production in adolescence. We need further understanding of the developmental background of voice in childhood and adolescence, because many genetic multi handicaps include voice production. Genetic development related to voice production was the focus in a search made by the Royal English Society of Medicine, with only a few results. We supplemented with references to genetic studies of adults and animals as well as adjacent areas of voice production. The genetic development of voice production is steered from the hypothalamus probably related to growth hormone. The genetic voice production in adults form the basis for understanding development. Some research results were found related to the pubertal steps. The findings are important in the future, using advanced voice analysis and artificial intelligence methods in patients with Multi handicaps.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 73-77"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijpam.2021.02.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10251797","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}
Sumaya Al Oraimi , Hussain Mohsin , Zainab Al Musawi , Younis Al Balushi , Khoula Al Shidhani , Qasem Al Salmi
{"title":"Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation","authors":"Sumaya Al Oraimi , Hussain Mohsin , Zainab Al Musawi , Younis Al Balushi , Khoula Al Shidhani , Qasem Al Salmi","doi":"10.1016/j.ijpam.2021.10.003","DOIUrl":"10.1016/j.ijpam.2021.10.003","url":null,"abstract":"<div><h3>Background</h3><p>Cystic fibrosis (CF) is a multisystemic chronic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. These mutations are classified in to six classes. Ivacaftor is a CFTR potentiator which partially restores the CFTR function for class III mutations. In Oman, p.Ser549Arg (class III) is the most common mutation (65% of cases). Our study prospectively evaluated the tolerance and clinical efficacy of ivacaftor.</p></div><div><h3>Methods</h3><p>A prospective observational study was conducted at the Royal Hospital, Oman. All children aged 6–18 years who are followed and carry at least one copy of the p.Ser549Arg mutation were started on Ivacaftor and included in the study. Data collected included weight, height, forced expiratory volume in first second (FEV1), sweat chloride concentration, stool elastase level and liver enzymes at baseline and at 12, 24, 36, and 48 weeks after initiation of treatment. The number of CF pulmonary exacerbations one year before and during treatment were compared.</p></div><div><h3>Results</h3><p>Twenty one children were started on Ivacaftor (90% homozygous for p.Ser549Arg). The mean age was 10.8 (SD ±3.5) years. When compared to baseline, FEV1 significantly improved by a mean of 10.8 (SD ±13.5) percentage points (pp) and 14.3 (SD ±7.5) pp at 12 and 48 weeks respectively. The sweat chloride level significantly dropped from a mean of 107 (SD ±8.5) mmol/l to 38.5 (SD ±22.3) mmol/l at 12 weeks and remained low. The Body Mass Index (BMI) improved by a mean of 1.37 (SD ±1.3) kg/m 2 and 1.9 (SD ±1.35) kg/m 2 at 24 and 48 weeks of treatment respectively. The number of admissions the year before and during treatment reduced significantly from a mean of 2.2 (SD± 1.9) to 0.7 (SD ±1) admission per year. Two children developed transaminitis.</p></div><div><h3>Conclusion</h3><p>Ivacaftor is well tolerated and resulted in a significant improvement in FEV1, BMI and sweat chloride level in children with p.Ser549Arg CFTR mutation.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 104-107"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352646721000879/pdfft?md5=f4b33a5c23eb65ac41d8cdb8f9f66d6b&pid=1-s2.0-S2352646721000879-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78252824","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":"Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia","authors":"Hanaa Banjar , Najlaa AbdulAziz , Jumana Khader , Firas Ghomraoui , AbdulAziz Alansari , Abdulaziz Al-Hoshan , Sara AlKaf , Wajeeh Aldakheel","doi":"10.1016/j.ijpam.2021.06.002","DOIUrl":"10.1016/j.ijpam.2021.06.002","url":null,"abstract":"<div><h3>Background</h3><p>Internationally, Cystic fibrosis-associated liver disease (CFLD) is considered the third leading cause of death, following lung disease and transplantation complications.</p></div><div><h3>Aims</h3><p>To identify the prevalence of CFLD in cystic fibrosis (CF) patients.</p></div><div><h3>Methodology</h3><p>A retrospective chart review for all patients with CF liver disease from a tertiary care center.</p></div><div><h3>Result</h3><p>A total of 341 CF patients were included. The mean age at the diagnosis of liver disease is 13.5 (7.6) years.The first elevated ALT was reported in 190/341 patients (56%), elevated AST in 124 patients (36%), elevated alkaline phosphatase (ALP) in 166 patients (49.1%), elevated GGT in 57 patients (23%), and elevated bilirubin in 24 patients (7%). There was an improvement of the liver enzyme values during the follow-up period, <em>P-</em>value = (<0.05).Ultrasound liver assessments were performed in 258/341 patients (75.7%). One hundred and twelve patients (43%) had abnormal findings. In 14 patients (5.4%), assessment exhibited advanced liver disease (liver cirrhosis and periportal fibrosis). Out of 190 patients, who were given ursodeoxycholic acid for elevated liver enzymes, 180 (94.7%) exhibited improvement. One patient underwent liver transplant at the age of 12. Four patients were submitted for liver biopsy; periportal fibrosis was observed in 4 patients (1.6%), and liver cirrhosis by ultrasound (US) in 10 patients (4%).</p></div><div><h3>Conclusion</h3><p>Patients with CF should be screened early for liver enzymes, and should undergo the US study to detect liver disease at early stages and to prevent its progression.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 78-82"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijpam.2021.06.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75024631","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}
Helen Kest , Ashlesha Kaushik , Anne Jagunla , Somia Shaheen , Sahil Zaveri , Ninia Fernandez , Sandeep Gupta , David Goldberg
{"title":"Adolescents as partners in the fight against COVID-19","authors":"Helen Kest , Ashlesha Kaushik , Anne Jagunla , Somia Shaheen , Sahil Zaveri , Ninia Fernandez , Sandeep Gupta , David Goldberg","doi":"10.1016/j.ijpam.2021.10.004","DOIUrl":"10.1016/j.ijpam.2021.10.004","url":null,"abstract":"<div><p>We report our experience of COVID-19 disease burden among patients aged 0–21 years at two tertiary care institutions in the Northeast and Midwest from New Jersey and Iowa. Our results showed that during the initial surge (March to August 2020) at both geographic locations, majority of COVID-19 disease burden occurred in adolescents and that they were more likely to be hospitalized for COVID-related illnesses, as well as develop severe disease needing intensive care. The study results emphasize the need for providing more targeted interventions toward this group to help prevent disease acquisition and transmission.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 113-116"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a8/23/main.PMC8552549.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39849168","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}
Said Trhanint , Laila Bouguenouch , Sana Abourazzak , Hanan El Ouahabi , Hanane Latrech , Salma Benyakhlef , Bahia Bennani , Ihssane El Bouchikhi , Fatima Zahra Moufid , Karim Ouldim , Lahsen El Ghadraoui , Nadia Maazouzi
{"title":"Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families","authors":"Said Trhanint , Laila Bouguenouch , Sana Abourazzak , Hanan El Ouahabi , Hanane Latrech , Salma Benyakhlef , Bahia Bennani , Ihssane El Bouchikhi , Fatima Zahra Moufid , Karim Ouldim , Lahsen El Ghadraoui , Nadia Maazouzi","doi":"10.1016/j.ijpam.2021.03.006","DOIUrl":"10.1016/j.ijpam.2021.03.006","url":null,"abstract":"<div><h3>Background</h3><p>Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients.</p></div><div><h3>Methods</h3><p>Twenty suspected MODY patients were screened for HNF1A and GCK mutations using Sanger sequencing and MLPA methods. Segregation analysis of identified mutations was performed among family members. The pathogenic nature of missense variants was predicted using bioinformatic tools.</p></div><div><h3>Results</h3><p>A total of two mutations were revealed among all patients raising the diagnostic rate to 10%. We identified a large novel GCK deletion (c.209-?_1398+?del) by MLPA in one patient and a previously reported missense substitution (c.92G > A) in HNF1A gene.</p></div><div><h3>Conclusion</h3><p>This is the first investigation to perform the molecular diagnosis of MODY suspected patients. Our findings constitute a primary contribution towards unraveling the genetic landscape involved in the pathogenesis of MODY disease in Morocco.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 98-103"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ijpam.2021.03.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84275043","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":"Epidemiology, clinical features, and outcomes of coronavirus disease among children in Al-Madinah, Saudi Arabia: A retrospective study","authors":"Amer Alshengeti , Hatem Alahmadi , Ashwaq Barnawi , Nouf Alfuraydi , Abdulsalam Alawfi , Arwa Al-Ahmadi , Mohammad Sheikh , Amani Almaghthawi , Zahera Alnakhli , Raghad Rasheed , Amany Ibrahim , Ahmed Sobhi , Dayel Al Shahrani , Faisal Kordy","doi":"10.1016/j.ijpam.2021.11.001","DOIUrl":"10.1016/j.ijpam.2021.11.001","url":null,"abstract":"<div><h3>Background and Objective</h3><p>Coronavirus disease (COVID-19) is milder with favorable outcomes in children than in adults. However, detailed data regarding COVID-19 in children from Saudi Arabia are scarce. This study aimed to describe COVID-19 among children in Al-Madinah, Saudi Arabia.</p></div><div><h3>Methods</h3><p>This retrospective observational study included children <14 years old hospitalized with COVID-19 between May 1, 2020 and July 31, 2020. Clinical data, COVID-19 disease severity, and outcomes were collected. The total number of presenting symptoms and signs were computed by counting those recorded upon presentation. The Kruskal-Wallis non-parametric test was used to compare the number of symptoms and signs across all levels of COVID-19 severity.</p></div><div><h3>Result</h3><p>Overall, 106 patients met the inclusion criteria; their ages ranged from 2 weeks to 13 years. Most patients were ≤12 months of age (43.4%). Bronchial asthma was the most common comorbidity (9.4%). Among 99 symptomatic patients, fever was the most common symptom (84.8%); seven patients (7%) were diagnosed with febrile seizure. Most COVID-19 cases were mild (84%); one patient (0.94%) was in critical condition and one patient (0.94%) met the Multisystem Inflammatory Syndrome in children criteria. The mean number of symptoms and signs in children with severe or critical COVID-19 was significantly higher than that in children with mild cases or non-severe pneumonia (<em>P</em> < .001). One patient died owing to COVID-19 (0.94%).</p></div><div><h3>Conclusions</h3><p>COVID-19 mortality in children is rare; however, while most children exhibit mild disease with favorable outcomes, children with chronic lung disease may be at higher risk for severe disease.</p></div>","PeriodicalId":36646,"journal":{"name":"International Journal of Pediatrics and Adolescent Medicine","volume":"9 2","pages":"Pages 136-142"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352646721000909/pdfft?md5=f8bba121c546cdc79613ba600e9809a6&pid=1-s2.0-S2352646721000909-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81118004","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}