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Remote Implementation of a Health Promotion Program in an Underserved High School during COVID-19: Lessons Learned 2019冠状病毒病疫情期间在一所服务水平低下的高中远程实施健康促进计划:经验教训
Pub Date : 2021-08-02 DOI: 10.26420/jpediatrchildhealthcare.2021.1045
Gefter L, Morioka-Douglas N, S. A., Jiang Ca, Rodriguez E
Background: This study examined the impact of remote implementation of a school-based health promotion program on health beliefs and behaviors of adolescent participants from an underserved high school during the COVID-19 pandemic. Methods: As part of the program, Family Medicine residents trained healthy 10th grade high school students from a vulnerable community in California to become health coaches for family members with diabetes. Five of eight onehour weekly sessions were delivered remotely after shelter in place was mandated. Students completed online pre and post-participation surveys including questions on health beliefs and behaviors and experience with remote learning. We explored factors associated with the likelihood of attending the remote classes, and we used paired T-tests to compare pre-and post-scores of health beliefs and behaviors, and qualitative analysis of open-ended questions to assess differences between those who completed in person sessions only and those who attended remote sessions. Results: 45 participants completed pre-surveys and 26 of those completed postsurveys. 14 of those 26 attended remote program sessions. The 14 who attended the additional remote sessions demonstrated significant improvements in health mindsets (belief that body has self-healing properties p=.045; belief that illness is an opportunity p=.028); consumption of fruits and vegetables (p=.054); consumption of sugary drinks (p=.047); understanding of how to improve their health (p=.055); and frequency of talking about health with their families (p=.057). Participants who did not attend remote sessions did not show significant improvements in these areas. Non-attendees were more likely to be Hispanic and male. Conclusions: These findings suggest that remote health promotion programs could support the health and well-being of adolescents in underserved communities. Yet, more research is essential to ensure all adolescents can participate.
背景:本研究考察了在2019冠状病毒病大流行期间,远程实施基于学校的健康促进计划对来自一所服务不足的高中的青少年参与者的健康信念和行为的影响。方法:作为项目的一部分,家庭医学住院医师培训来自加利福尼亚一个弱势社区的健康的10年级高中生,使他们成为患有糖尿病的家庭成员的健康教练。8次每周1小时的会议中,有5次是在临时住所得到授权后远程提供的。学生们完成了参与前和参与后的在线调查,包括关于健康信念和行为以及远程学习经验的问题。我们探索了与参加远程课程的可能性相关的因素,我们使用配对t检验来比较健康信念和行为的前后得分,并对开放式问题进行定性分析,以评估仅完成面对面课程的人与参加远程课程的人之间的差异。结果:45名参与者完成了预调查,26名参与者完成了后调查。这26人中有14人参加了远程课程。参加额外远程会议的14人在健康心态方面表现出显著改善(相信身体具有自我修复特性p= 0.045;认为疾病是一种机会(p=.028);食用水果和蔬菜(p=.054);含糖饮料的摄入量(p= 0.047);了解如何改善他们的健康(p=.055);与家人谈论健康的频率(p= 0.057)。没有参加远程会议的参与者在这些方面没有显着改善。未参加会议的更有可能是西班牙裔和男性。结论:这些发现表明,远程健康促进计划可以支持服务不足社区青少年的健康和福祉。然而,要确保所有青少年都能参与,还必须进行更多的研究。
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引用次数: 2
Assessment of Essential Newborn Care Practices in the Squatter Settlements of Islamabad Capital Territory in Pakistan 巴基斯坦首都伊斯兰堡地区棚户区新生儿基本护理实践评估
Pub Date : 2021-06-25 DOI: 10.26420/jpediatrchildhealthcare.2021.1043
Hassan Rh, Hamid Sh, Reza Tr, Hanif Kh, Blanchard Jb, Emmanuel Fe
Background: While Pakistan has shown progress in reducing child mortality, significant challenges exist in reducing neonatal mortality rate. WHO recommends a package of “essential newborn care” practices based on effective coverage to improve newborn survival. Aim: To assess the coverage of Essential Newborn Care (ENC) as defined by WHO guidelines, in the squatter settlements of Islamabad Capital Territory (ICT). Methods: This cross-sectional survey gathered community-based data on newborn care practices from 416 eligible mothers within randomly selected squatter settlements of ICT. Three composite outcomes (safe cord care, optimal thermal care and good neonatal feeding) were generated by combining individual practices from a list of WHO recommended ENC practices. ENC was considered when all practices within each domain of safe cord care, ideal thermal care and good neonatal feeding were fulfilled. Results: Only 2.9% of newborns received all components of WHO recommended ENC. Seventeen percent newborns received safe cord care, 40.4% received optimal thermal care and 28.8% followed WHO recommended neonatal feeding practice. Various cultural and societal misconceptions were reported which translate into harmful practices for newborn care. Conclusion: The study highlighted an extremely low coverage level of effective essential newborn care. Pakistan needs to address issues of quality care for newborns through policy and programs which focus on Maternal, Newborn, and Child Health (MNCH) continuum of care. It needs a concerted effort at the grass root level, especially training front line workers to educate mothers on various cultural and societal misconceptions that translate into harmful practices for newborns.
背景:虽然巴基斯坦在降低儿童死亡率方面取得了进展,但在降低新生儿死亡率方面仍存在重大挑战。世卫组织建议在有效覆盖的基础上采取一揽子“新生儿基本护理”做法,以提高新生儿存活率。目的:评估世卫组织指南定义的基本新生儿护理(ENC)在伊斯兰堡首都领地(ICT)棚户区的覆盖范围。方法:这项横断面调查收集了随机选择的ICT棚户区416名符合条件的母亲的新生儿护理实践的社区数据。通过结合世卫组织推荐的ENC做法清单中的个别做法,产生了三个复合结果(安全脐带护理、最佳热护理和良好的新生儿喂养)。当安全脐带护理、理想的热护理和良好的新生儿喂养在每个领域内的所有实践都得到满足时,才考虑ENC。结果:只有2.9%的新生儿接受了世卫组织推荐的ENC的所有组成部分,17%的新生儿接受了安全脐带护理,40.4%的新生儿接受了最佳热护理,28.8%的新生儿遵循了世卫组织推荐的新生儿喂养方法。据报告,各种文化和社会误解转化为新生儿护理的有害做法。结论:该研究突出了有效的新生儿基本护理覆盖率极低。巴基斯坦需要通过以孕产妇、新生儿和儿童健康(MNCH)连续护理为重点的政策和规划,解决新生儿优质护理问题。这需要在基层齐心协力,特别是培训一线工作人员,让母亲了解各种文化和社会误解,这些误解会转化为对新生儿有害的做法。
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引用次数: 0
Neonatal Sepsis: A Review of the Literature 新生儿脓毒症:文献综述
Pub Date : 2021-06-10 DOI: 10.26420/jpediatrchildhealthcare.2021.1042
Nyenga Am, M. O, W. So
Neonatal sepsis contributes significantly to neonatal morbidity and mortality and is a major public health challenge around the world. Depending on the mode of occurrence, a distinction is made between maternal-transmitted infection and that acquired in the postnatal period. Although the etiologies maternally transmitted diseases are well understood, those of postnatal acquired infections are variable depending on the epidemiology of each hospital environment. On the one hand, risk factors for maternal-transmitted infections are maternal sepsis, prolonged premature rupture of membranes, chorioamnionitis, and bacteriuria in the mother during pregnancy. On the other hand, risk factors for postnatal acquired infections are prematurity, low birth weight, lack of hygiene, and invasive therapeutic interventions. The diagnosis is based on a series of anamnestic, clinical and biological features. Although the positive diagnosis is based on the isolation of the germ by culture on a body sample (blood, cerebrospinal fluid, urine, etc.); its low sensitivity leads to the use of markers of the acute phase of inflammation such as C-reactive protein, procalcitonin and interleukins. New molecular biology techniques are promising and offer precise diagnosis with rapid results. Empirical management is a function of microbial ecology while definitive treatment is guided by the results of microbial culture. This article presents the essential elements for understanding neonatal sepsis and discusses new diagnosis and therapeutic management. It offers a thorough reading based on the issue of infections in newborns.
新生儿败血症是导致新生儿发病率和死亡率的重要因素,是世界各地面临的一项重大公共卫生挑战。根据发生方式,将产妇传播感染与产后感染加以区分。虽然母体传播疾病的病因已被很好地理解,但产后获得性感染的病因因每个医院环境的流行病学而异。一方面,母体传播感染的危险因素是母体败血症、胎膜长期早破、绒毛膜羊膜炎和妊娠期母体细菌尿。另一方面,产后获得性感染的危险因素是早产、低出生体重、缺乏卫生和侵入性治疗干预。诊断是基于一系列的记忆,临床和生物学特征。虽然阳性诊断是基于在身体样本(血液、脑脊液、尿液等)上培养分离细菌;它的低敏感性导致使用炎症急性期的标志物,如c反应蛋白、降钙素原和白细胞介素。新的分子生物学技术很有前景,可以提供精确的诊断和快速的结果。经验性管理是微生物生态学的功能,而定性处理是由微生物培养结果指导的。本文介绍了了解新生儿败血症的基本要素,并讨论了新的诊断和治疗管理。它提供了一个基于新生儿感染问题的全面阅读。
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引用次数: 10
Ultrasound-Guided Caudal Epidural Block for Bilateral Testicular Ectopy and Circumcision in Child above 6 Years with Joubert Syndrome 超声引导下尾侧硬膜外阻滞治疗6岁以上Joubert综合征患儿双侧睾丸切除和包皮环切
Pub Date : 2021-05-07 DOI: 10.26420/jpediatrchildhealthcare.2021.1040
Fekih Hassen Amjed, B. Asma, Blaiti Hajer, B. Ahmed, Kaddour Refka, Trifa Mehdi
Background: Abnormal respiratory control has been clearly documented in infants and children with Joubert Syndrome (JS) by polygraphic recordings, characterized by episodes of apnea, tachypnea, and/or hyperpnea and the risk of recurrence of these episodes increase probably in perioperative period. In those cases, the choice of anesthesia technique and postoperative pain protocol, constitute a challenge for anesthesiologists. Case: We describe a case of successful ultrasound-guided Caudal Epidural Block (CEB) for children above 6 years with Joubert Syndrome undergoing bilateral testicular ectopy and circumcision avoiding opioid-use. Conclusions: Despite the difficulty to achieve CEB in child above 6 years, the ultrasound-guided can increase the success providing effective analgesia in-patient with a high-risk of respiratory failure as child with JS.
背景:婴儿和儿童Joubert综合征(JS)的呼吸控制异常已被广泛记录,其特征为呼吸暂停发作、呼吸急促和/或呼吸急促,这些发作的复发风险可能在围手术期增加。在这些情况下,麻醉技术和术后疼痛方案的选择对麻醉医师来说是一个挑战。病例:我们描述了一个成功的案例超声引导尾侧硬膜外阻滞(CEB) 6岁以上的儿童Joubert综合征接受双侧睾丸切除和包皮环切避免阿片类药物的使用。结论:虽然6岁以上患儿CEB难以实现,但超声引导下可提高JS患儿呼吸衰竭高危患者有效镇痛的成功率。
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引用次数: 0
Point of Care Ultrasound (Pocus) in Early Diagnosis of a Pediatric Pauci-Symptomatic Acute Heart Transplant Rejection 护理点超声(Pocus)在儿童pauci症状急性心脏移植排斥反应早期诊断中的应用
Pub Date : 2021-01-01 DOI: 10.13188/2380-0534.1000032
G. Emanuela
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引用次数: 1
Transition to Adulthood: A Qualitative Case Study of the Lived Experience of a Young American Adolescent in Korea 向成年的过渡:一个美国青少年在韩国生活经历的定性案例研究
Pub Date : 2021-01-01 DOI: 10.13188/2380-0534.1000031
Sun-Joung L An
This qualitative case study was done to gain better understanding of the factors that contributed to the successful social participation and transition to adulthood of an American adolescent, named Addie, diagnosed with epilepsy. Addie’s life chart was used to describe her experience of living with Lennox-Gastaut Syndrome (epilepsy). Major focus of the study was an exploration of her rich and positive experience of living in Korea, away from home, for 10 weeks. Analysis of Addie’s lived experience in Korea revealed two factors that facilitated her independent living there, in contrast to her previous home life; 1) Social environment and 2) Physical environment and their subcategories. Following her return home from this experience, she was able to generalize the skills gained into her own environment in Los Angeles. The findings of this study indicate that the change in these two factors increased Addie’s self-esteem, confidence, motivation and opportunities for participation in meaningful social interaction, thereby increasing her chance of successfully transitioning into adulthood. has potential impact on health and well-being, participation, social functioning and ultimately, quality of life during adolescence and adulthood [6]. When seizures start between ages 2-5 and persist, they can evolve into the pattern of Lennox-Gastaut Syndrome (LGS), expressed as multiple seizures that include tonic seizures during sleep and continue lifelong [7]. Seizures can be controlled through adequate use of antiepileptic drugs in about 70% of individuals with epilepsy [8]. Regardless of the ability to control seizure activity, epilepsy has great impact on the lives of individuals affecting their participation, social functioning and successful transition to adulthood. The aim of this qualitative case study was to 1) explore the lived experience of an American adolescent with LGS, who as a young adult lived in the Republic of Korea (Korea) for a period of time, and 2) gain an understanding of the factors that facilitated her successful participation and transition to adulthood.
这个定性的案例研究是为了更好地了解一个被诊断为癫痫的美国青少年Addie成功参与社会和向成年过渡的因素。Addie的生命图表被用来描述她患有Lennox-Gastaut综合征(癫痫)的经历。这次研究的重点是探索她离开家在韩国生活了10周的丰富而积极的经历。对艾迪在韩国生活经历的分析揭示了两个因素,促使她在韩国独立生活,而不是之前的家庭生活;1)社会环境;2)自然环境及其子类。在她从这段经历中回国后,她能够将获得的技能推广到洛杉矶自己的环境中。本研究的结果表明,这两个因素的改变增加了Addie的自尊、自信、动机和参与有意义的社会互动的机会,从而增加了她成功过渡到成年的机会。对青少年和成年期的健康和福祉、参与、社会功能以及最终的生活质量有潜在影响[6]。当癫痫发作在2-5岁之间开始并持续时,可演变为lenox - gastaut综合征(LGS)模式,表现为多次发作,包括睡眠时的强直性发作,并持续终生[7]。约70%的癫痫患者可通过适当使用抗癫痫药物控制癫痫发作[8]。无论控制癫痫发作活动的能力如何,癫痫对个人的生活都有很大影响,影响他们的参与、社会功能和成功过渡到成年。本定性案例研究的目的是:1)探索一位患有LGS的美国青少年的生活经历,她年轻时曾在韩国生活过一段时间;2)了解促使她成功参与并过渡到成年的因素。
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引用次数: 0
Racism May Interrupt Age-related Brain Growth of African American Children in the United States. 种族主义可能会中断美国非裔美国儿童与年龄相关的大脑发育。
Pub Date : 2021-01-01 Epub Date: 2021-11-09
Shervin Assari, Ron Mincy

Background: Considerable research has documented age-related growth in brain size as a marker of normal brain development. This is particularly important because brain volume has a significant role in overall cognitive performance. However, less research is done on whether age-related changes in the global brain volume differ across diverse racial and ethnic groups. We hypothesized that age-related growth in brain size would be disrupted in African American children who are historically affected by racism.

Purpose: Considering race as a proxy of racism rather than genetics, this study tested racial and ethnic differences in the effects of age on global brain volume using structural brain imaging data. Built on a sociological, rather than a biological theory, we built our study on Marginalization-related Diminished Returns (MDRs) framework, which argues that under racism, resources and assets are less effective for social groups that are historically racialized, discriminated against, marginalized, and segregated. Considering age as an asset/resource that increases the global brain volume, we expected weaker effects of age on overall brain size of African American and Hispanic children, than White and non-Hispanic children, again as a result of racism.

Methods: We borrowed the structural Magnetic Resonance Imaging (sMRI) data from the Children Brain Cognitive Development (ABCD) study, which included 9,311 9-10 year old children. The independent variable was the child's age treated as a continuous measure (in months). The primary outcome was global brain volume. Sex, parental employment, parental education, household income, and parental marital status were the covariates. Race and ethnicity, as proxies of racism, were the moderators. To analyze the data, we used linear regression models.

Results: Age was positively associated with the global brain size in children. In line with the MDRs, the positive association between age and global brain volume was weaker for African American than White children, while family structure, sex, and family socioeconomic status was controlled.

Conclusions: Under racism, age has unequal effects on global brain size of diverse racial groups. In line with the MDRs, we observe diminished age-related growth of the brain for African American children, which documents detrimental effects of racism. For White children who are not affected by racism, age makes a large difference regarding global brain volume. Age-related growth of global brain size is diminished in African American children, whose daily lives are shaped by racism. School and residential segregation may have a role in reducing the effect of age on children's brain growth in African American families. The results should not be interpreted as inferiority of one group but social processes that hinder normal development of a historically oppressed group

背景:相当多的研究证明,与年龄相关的大脑大小增长是大脑正常发育的标志。这一点尤其重要,因为脑容量在整体认知表现中起着重要作用。然而,关于全球脑容量的年龄相关变化是否在不同种族和民族群体中有所不同的研究较少。我们假设,在历史上受到种族主义影响的非裔美国儿童中,与年龄相关的大脑大小增长会受到干扰。目的:考虑到种族是种族主义的代表,而不是基因,本研究使用脑结构成像数据测试了种族和民族差异对年龄对全球脑容量的影响。基于社会学而非生物学理论,我们建立了边缘化相关收益递减(mdr)框架研究,该框架认为,在种族主义下,资源和资产对历史上被种族化、歧视、边缘化和隔离的社会群体的效率较低。考虑到年龄是增加全球脑容量的资产/资源,我们预计年龄对非裔美国人和西班牙裔儿童总体脑容量的影响要弱于白人和非西班牙裔儿童,这也是种族主义的结果。方法:我们借用儿童脑认知发展(ABCD)研究的结构磁共振成像(sMRI)数据,其中包括9,311名9-10岁儿童。自变量是儿童的年龄,作为连续测量(以月为单位)。主要结果是脑容量。性别、父母就业、父母受教育程度、家庭收入和父母婚姻状况为协变量。种族和民族,作为种族主义的代理人,是调节者。为了分析数据,我们使用线性回归模型。结果:年龄与儿童脑容量呈正相关。与mdr一致,年龄与全球脑容量之间的正相关关系在非裔美国儿童中比白人儿童弱,而家庭结构、性别和家庭社会经济地位是受控的。结论:在种族歧视下,年龄对不同种族的脑容量的影响是不平等的。与mdr一致,我们观察到非裔美国儿童与年龄相关的大脑发育减少,这证明了种族主义的有害影响。对于不受种族主义影响的白人儿童来说,年龄对全球脑容量有很大影响。在非裔美国儿童中,与年龄相关的全球脑容量增长减少,他们的日常生活受到种族主义的影响。在非裔美国家庭中,学校和住所的隔离可能在减少年龄对儿童大脑发育的影响方面发挥了作用。结果不应该被解释为一个群体的自卑,而是阻碍历史上受压迫群体正常发展的社会过程。
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引用次数: 0
Studies Abroad of Adolescents with Special Needs or Disabilities 特殊需要或残疾青少年的海外研究
Pub Date : 2021-01-01 DOI: 10.13188/2380-0534.1000030
Sergei V. Jargin
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引用次数: 0
Early Childhood Caries Experience Associated with Upper Respiratory Infection in US Children: Findings from a Retrospective Cohort Study. 美国儿童早期龋齿经历与上呼吸道感染的关系:一项回顾性队列研究的结果。
Pub Date : 2021-01-01 Epub Date: 2021-07-26 DOI: 10.26420/jpediatrchildhealthcare.2021.1044
A Albelali, T T Wu, H Malmstrom, J Xiao

Introduction: Both Early Childhood Caries (ECC) and Upper Respiratory Infection (URI) are infectious diseases. The oral cavity is considered a potential reservoir of respiratory pathogens due to the anatomical proximity between the oral cavity and respiratory system, which implies a potential association between ECC and URI. Hence, this study aimed to evaluate the association between ECC experience and URI incidence in preschool children.

Methods: This retrospective cohort study collected data via electronic health records. The exposure was ECC before 3 years of age. The dependent variable was the incidence of URI between 4-6 years of age. To analyze the factors associated with the time-to-event of URI, we used log-rank tests and Cox regression models to compare the survival of URI between the ECC and Caries-Free (CF) groups, adjusting factors including demographic-socioeconomic characteristics and medical conditions. To analyze factors associated with the number of URI episodes, we used negative binomial regression models adjusting for factors mentioned above.

Results: A total of 497 US preschool children were included, with 117 ECC and 380 CF children. More children with ECC (58.1%) developed URI than the CF group (47.6%) during the follow-up period (4-6 years of age) (p=0.04). The ECC children were at 1.6 times higher risk to develop URI than the CF children even after accounting for other URI risk factors (Hazard Ratio 1.57 (1.13, 2.10), p=0.007).

Conclusions: Our study suggests a potential association between ECC and URI, with an inference that early life ECC experience could be used as a predictor for developing URI in preschool age. The causal relationship between ECC and URI incidence in young children needs to be investigated through future studies.

导言:儿童早期龋齿(ECC)和上呼吸道感染(URI)都是传染性疾病。由于口腔和呼吸系统在解剖学上的接近性,口腔被认为是呼吸道病原体的潜在贮藏地,这意味着 ECC 和 URI 之间存在潜在联系。因此,本研究旨在评估学龄前儿童患 ECC 的经历与 URI 发病率之间的关联:这项回顾性队列研究通过电子健康记录收集数据。方法:这项回顾性队列研究通过电子健康记录收集数据,研究对象为 3 岁前的幼儿保育和教育经历。因变量为 4-6 岁儿童的尿毒症发病率。为了分析与尿毒症发病时间相关的因素,我们使用了对数秩检验和 Cox 回归模型来比较 ECC 组和无龋(CF)组之间的尿毒症存活率,并对人口、社会经济特征和医疗条件等因素进行了调整。为了分析与尿毒症发作次数相关的因素,我们使用了负二项回归模型,对上述因素进行了调整:共纳入了 497 名美国学龄前儿童,其中有 117 名 ECC 儿童和 380 名 CF 儿童。在随访期间(4-6 岁),患 ECC 的儿童(58.1%)比患 CF 的儿童(47.6%)更多(P=0.04)。即使考虑了其他URI风险因素,ECC患儿患URI的风险也比CF患儿高1.6倍(危险比1.57 (1.13, 2.10), p=0.007):我们的研究表明,幼儿保育与尿毒症之间存在潜在联系,并推断幼儿保育经历可作为学龄前儿童患尿毒症的预测因素。幼儿幼儿保育中心与尿毒症发病率之间的因果关系需要通过今后的研究进行调查。
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引用次数: 0
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
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
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
背景:粘多糖病是溶酶体疾病大家族中的一种代谢性疾病。由遗传变化引起的mps疾病,导致特定溶酶体酶的缺乏、缺失或功能障碍,是分解糖胺聚糖(GAGs)所必需的。随着时间的推移,(GAGs)在各种身体组织中的积累会导致永久性的进行性损伤,影响外观、身体能力和包括智力发育在内的系统功能。MPS IV型(OMIM 612222)也称为(Morquio综合征),以严重的骨骼和骨骼畸形为特征,同时保留了智力发育。材料和方法:在本研究中,根据标准方案进行放射检查,溶酶体酶测定和基因突变。结果:在这里,我们报告了一名来自沙特的男孩,患有罕见的粘多糖病,MPS-IVA。主要的主诉是婴儿期早期不明原因的严重胸突。骨骼调查和溶酶体酶分析显示n-乙酰半乳糖-6-s酶缺失支持MPSIVA的最终诊断,GALNS基因突变证实了MPSIVA的诊断。结论:对不明原因的胸隆突、骨畸形及骨功能障碍多重改变的患者,必须进行粘多糖病检查。因此,早期使用酶替代疗法可降低该病的发病率和死亡率。进一步的管理需要涉及儿科医生、骨科、外科、精神病学和临床遗传学家的多学科方法,遗传咨询是预防措施的重要组成部分。材料与方法
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Journal of pediatrics & child health care
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