Journal of pediatrics & child health care最新文献_第2页

Unexplained Pectus Carinatum related to Mucopolysacchridosis Type IV, Case report and Literature Review 不明原因的卡隆胸肌与黏液多积症IV型相关，1例报告及文献复习

Journal of pediatrics & child health care Pub Date : 2020-12-30 DOI: 10.13188/2380-0534.1000028

Al-buali, R. Zaal, JS Al-Faraj, A. Alali, Al, A. Khamis, HJ Al-buali

{"title":"Unexplained Pectus Carinatum related to Mucopolysacchridosis Type IV, Case report and Literature Review","authors":"Al-buali, R. Zaal, JS Al-Faraj, A. Alali, Al, A. Khamis, HJ Al-buali","doi":"10.13188/2380-0534.1000028","DOIUrl":"https://doi.org/10.13188/2380-0534.1000028","url":null,"abstract":"Background: Mucopolysaccharidosis (MPSs) are group of metabolic disorders belong to large family of lysosomal disorders. MPSs disorders caused by genetic changes that lead to deficiency, absence or malfunctions of specific lysosomal enzymes are required to break down glycosaminoglycans (GAGs). Overtime, accumulation of (GAGs) in various body tissues results in permanent progressive damage affecting appearance, physical abilities and systemic function including mental development. MPS type IV (OMIM 612222) also called (Morquio syndrome) characterized by sever skeletal and bone deformities while preserved mental development. Materials and methods: In the present investigation, radiological workup as well as lysosomal enzyme assay and genetic mutation were performed according to the standard protocols. Results: Here, we report a single affected individual (boy) having Saudi origin, suffering from rare mucopolysaccharidosis, MPS-IVA. The main presenting complaint is the unexplained sever pectus carinatum in early infancy period. dysostosis multiplex found in skeletal survey and lysosomal enzymatic analysis revealed absence of N-acetylgalactosamin-6-s enzyme support the final diagnosis of MPSIVA which confirmed by genetic mutation in GALNS gene . Conclusion: Patients with unexplained pectus Carinatum and bone deformities as well as dysostosis multiplex changes must be tested for mucopolysaccharidosis. Hence, early treatment with enzyme replacement therapy decreases the morbidity and mortality of the disease. Futher Management requires a multidisciplinary approach involving pediatrician, orthopedics, surgery, psychiatry, and clinical geneticist, Genetic counselling an essential part of prevention measures. Material and Methods","PeriodicalId":93121,"journal":{"name":"Journal of pediatrics & child health care","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90074467","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

Kids N Fitness: A Group-based Pediatric Weight Management Curriculum Adapted for a Clinical Care Model. 儿童健身:以小组为基础的儿童体重管理课程适应临床护理模式。

Journal of pediatrics & child health care Pub Date : 2020-01-01 Epub Date: 2020-02-04

B Manzanarez, K Lopez, M Lipton-Inga, C Fink, M Radzik, R Buxton, J Gonzalez, C Davis, A P Vidmar

{"title":"Kids N Fitness: A Group-based Pediatric Weight Management Curriculum Adapted for a Clinical Care Model.","authors":"B Manzanarez, K Lopez, M Lipton-Inga, C Fink, M Radzik, R Buxton, J Gonzalez, C Davis, A P Vidmar","doi":"","DOIUrl":"","url":null,"abstract":"Background: The current AAP clinical practice guidelines for the management of pediatric obesity recommend a structured, comprehensive, multi-disciplinary clinical intervention. However, there is a gap in the current literature on standardized curriculums for implementation of such programs. The objective of the present study is to adapt an evidenced-based, family- centered, weekly, weight management curriculum that addresses nutritional, physical activity and behavioral topics for a clinical care model at a tertiary care children's hospital.Methods: The curriculum was adapted for use in six individual sessions offered monthly by a multidisciplinary team, including a health educator, physician, dietitian, physical therapist and psychologist. Each provider offered specific feedback and curriculum adaptation based on their specialty. All team members completed training with scheduled treatment fidelity monitoring during implementation. To evaluate the effectiveness of the adapted curriculum, 60 adolescents, ages 14-18 years, with overweight or obesity, and at least one family member, will complete the six month intervention. The primary outcome is mean change in zBMI and %BMIp95 at six month and 18 months. Secondary outcomes include retention, satisfaction, effect on metabolic factors and activity level.Conclusion: There is a paucity of literature on utilizing a standard curriculum in clinical weight management programs. Drawing from evidenced-based curriculum to strengthen clinical care creates an opportunity to improve existing clinical programs and potentially increase access and implementation of the current treatment recommendations for this high risk population.","PeriodicalId":93121,"journal":{"name":"Journal of pediatrics & child health care","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444754/pdf/nihms-1613123.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38308189","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}

引用次数: 0

The Therapeutic Management of Autism Spectrum Disorders: Cross-Sectional Retrospective Study of Prescriptors in Morocco 自闭症谱系障碍的治疗管理:摩洛哥处方者的横断面回顾性研究

Journal of pediatrics & child health care Pub Date : 2019-03-12 DOI: 10.26420/JPEDIATRCHILDHEALTHCARE.1025.2019

Sefrioui Mr

{"title":"The Therapeutic Management of Autism Spectrum Disorders: Cross-Sectional Retrospective Study of Prescriptors in Morocco","authors":"Sefrioui Mr","doi":"10.26420/JPEDIATRCHILDHEALTHCARE.1025.2019","DOIUrl":"https://doi.org/10.26420/JPEDIATRCHILDHEALTHCARE.1025.2019","url":null,"abstract":"Background: Autism Spectrum Disorders (ASD) represents a developmental disorder that affect verbal and nonverbal communication, social interaction and daily activities. Aims: The purpose of this study is to identify different treatment prescribed for individuals with ASD and to evaluate the efficiency of pharmacotherapy and behavioral management in autistic patients from Morocco. Methods and Procedures: Our survey included 72 health professionals, 50 of whom were drug prescribers and 22 non- prescribers. Outcomes and Results: 68% of the prescriber professionals prescribe drugs for autism and 65% of these are off label. The most prescribed therapeutic classes are antipsychotics (76%). 56% of prescriber professionals noticed an improvement in the quality of life of children following prescription medication. Moreover, 92% of the professionals prescribe drugs for autism-associated conditions; antiepileptic drugs are the most prescribed (65%). In addition, 26% of prescribing physicians and 28% of non-prescribers associate a diet with the management of ASD. According to them, the improvement in the quality of life of children with autism following the combination of a diet is 20% and 76% respectively. On the other hand, 58% of prescribers and all non-prescriber professionals have shown that the behavioral management method is the most satisfactory method. Conclusion: These data highlight the high rate of drug prescription for autism disorder in Morocco and despite non FDA-approved uses, the improvement in the quality of life is considerable. Also, Applied Behavior Analysis (ABA) provide successful treatment and optimize outcome.","PeriodicalId":93121,"journal":{"name":"Journal of pediatrics & child health care","volume":"175 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73650688","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: 1

A Thorough Genital Examination is the Key 彻底的生殖器检查是关键

Journal of pediatrics & child health care Pub Date : 2018-12-30 DOI: 10.13188/2380-0534.1000024

M. Alam, S. Zeidan, D. Raja, Breiche, N. Diab

引用次数: 0