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Demystifying Renal Tubular Disorders in children : A simplified approach 儿童肾小管疾病的诊断:一种简化的方法
Pub Date : 2022-12-28 DOI: 10.32677/ijch.v9i12.3725
Sharma Shobha, Kalra Suprita 
Renal tubular disorders essentially include all disorders of the highly specialized channels of the renal tubular system, from the proximal convoluted tubule to the cortical and medullary collecting ducts. This tubular system is responsible for reabsorption of 99% of glomerular ultrafiltrate, which contains a large amount of fluid (approximately 180 L/day) as well as most electrolytes and many metabolites such as glucose (G), amino acids, bicarbonate (HCO3-), phosphate (PO4 3-), and low-molecular-weight proteins and is essential for maintaining fluid, electrolyte, and acid–base balance. In this review, we will briefly discuss when to suspect a renal tubular disorder, a simplified algorithm for evaluation, and specific mutations of a few common disorders.
肾小管疾病基本上包括肾小管系统高度特化通道的所有疾病,从近曲小管到皮质和髓质集管。这个管状系统负责99%的肾小球超滤液的重吸收,其中包含大量的液体(约180升/天),以及大多数电解质和许多代谢物,如葡萄糖(G)、氨基酸、碳酸氢盐(HCO3-)、磷酸盐(PO4 3-)和低分子量蛋白质,对维持液体、电解质和酸碱平衡至关重要。在这篇综述中,我们将简要讨论何时怀疑肾小管疾病,一种简化的评估算法,以及一些常见疾病的特定突变。
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引用次数: 0
Clinical Uses of Fructooligosaccharides for Gastrointestinal health in the Pediatric Population 低聚果糖对儿童胃肠道健康的临床应用
Pub Date : 2022-12-25 DOI: 10.32677/ijch.v9i12.3769
Femitha Pournami, Ghazi Sharique Ahmad, Nayankumar Rameshchandra Kalawadia, Ravishankar Kanithi, Samik Hazra, Satyen Kanhiyalal Hemrajani, Shrish Bhatnagar, Preethi Rahul
Fructooligosaccharides (FOS) are non-digestible carbohydrates that are one of the major classes of bifidogenic oligosaccharides. Studies find that prebiotics such as FOS display health benefits pertaining to but not restricted to the gastrointestinal tract of an infant. This review article aims to discuss the therapeutic potential of FOS for different pediatric gut conditions. FOS in varying concentration has been found to prevent constipation and soften stools; reduce the incidence and severity of diarrhoea; alleviate GI discomfort symptoms such as vomiting and regurgitation. Infants and children seem to tolerate both short and long chain FOS molecules well. Although FOS is beneficial for infant and child health, there is still a need for rigorous clinical trials and long term follow up studies to understand if FOS supplemented in infancy can confer long term effects in adulthood. 
低聚果糖(FOS)是不可消化的碳水化合物,是双歧低聚糖的主要类别之一。研究发现,像FOS这样的益生元对婴儿的胃肠道有健康益处,但不仅限于此。这篇综述文章旨在讨论FOS对不同儿科肠道疾病的治疗潜力。已发现不同浓度的FOS可预防便秘和软化大便;减少腹泻的发病率和严重程度;缓解胃肠道不适症状,如呕吐和反流。婴儿和儿童似乎都能很好地耐受短链和长链FOS分子。尽管FOS对婴幼儿健康有益,但仍需要进行严格的临床试验和长期随访研究,以了解婴儿期补充FOS是否会对成年期产生长期影响。
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引用次数: 0
Clinical predictors of hypoxemia in patients of acute lower respiratory tract infections: A hospital-based study 急性下呼吸道感染患者低氧血症的临床预测因素:一项基于医院的研究
Pub Date : 2022-12-14 DOI: 10.32677/ijch.v9i11.3474
Mansi Arora, P. Rai, P. Prasad
Aim: The aim of this study was to study clinical predictors of hypoxemia in patients of acute lower respiratory infections in children.Materials and Methods: An observational prospective study was conducted for 8 months in the General Pediatric Ward and Pediatric Intensive Care Unit of Shri Ram Murti Smarak Institute of Medical Sciences, Bareilly, a tertiary care hospital in Rohilkhand region. This is a hospital-based study. All children admitted with acute lower respiratory tract infections between the age group of 1 month to 59 months of age and diagnosed with pneumonia and bronchiolitis were enrolled and oxygen saturation of patients was recorded and compared with arterial blood gas.Results: A total of 40 patients were enrolled in the study. More than 90% cases of pneumonia and bronchiolitis presented with difficulty in breathing followed by rapid breathing as the next most common symptom. The least common symptom was noisy breathing and pain in abdomen. The most common signs observed were tachypnea which was present in 100% cases of mild, moderate, and severe hypoxemia. Tachypnea (91%), pallor (89%) and nasal flaring (84%), crepitations (added sounds), and subcostal retractions had better sensitivity for detecting hypoxemia.Conclusion: It was observed that a combination of clinical signs and symptoms can be used to predict hypoxemia when facilities of pulse oximetry and arterial blood gas analysis are not available, especially in low-resource settings.
目的:本研究旨在研究儿童急性下呼吸道感染患者低氧血症的临床预测因素。材料和方法:一项为期8个月的观察性前瞻性研究在Rohilkhand地区三级医院Bareilly的Shri Ram Murti Smarak医学科学研究所的普通儿科病房和儿科重症监护室进行。这是一项基于医院的研究。所有年龄在1月龄~ 59月龄,诊断为肺炎和细支气管炎的急性下呼吸道感染患儿均入组,记录患者血氧饱和度,并与动脉血气进行比较。结果:共有40例患者入组研究。超过90%的肺炎和细支气管炎患者表现为呼吸困难,其次是呼吸急促。最不常见的症状是呼吸急促和腹部疼痛。最常见的症状是呼吸急促,在100%的轻度、中度和重度低氧血症病例中均有出现。呼吸急促(91%)、面色苍白(89%)、鼻肿胀(84%)、心悸(附加音)和肋下回缩对检测低氧血症有更好的敏感性。结论:在缺乏脉搏血氧仪和动脉血气分析设备的情况下,特别是在资源匮乏的环境中,临床体征和症状的结合可用于预测低氧血症。
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引用次数: 0
Effect of oral nutrition supplement on growth in preschool children – a systems physiology-based in silico analysis 口服营养补充剂对学龄前儿童生长发育的影响——基于系统生理学的硅分析
Pub Date : 2022-12-13 DOI: 10.32677/ijch.v9i11.3696
Hari Nishanthi V, Ekta Chheda, Siranjeevi Gurumaani, Vani Gangwar, A. Saxena, K. Lomore, M. Marathe, Preethi Rahul, Venkatesh Kareenhalli
Introduction: Optimum nutrition is the cornerstone of child growth and development. Childhood is a period of rapid growth and development. Children of preschool age have higher nutritional needs and are often at risk of nutrient deficiencies.Objective: The present study was designed to evaluate the effect of an oral nutritional supplement (ONS) on growth parameters in a representative population.Methods: We used the systems-biology-based mathematical model for child growth to analyze the effect of ONS on growth in a representative in silico population of preschool children. The analysis included changes in average growth velocities of weight, height, muscle mass, fat mass, fat-free mass, and bone mass. We used meta-data analysis for evaluating the absorption of micronutrients present in the ONS that affects growth in preschool children.Results: The results of the analysis showed one serving of ONS in milk/day improved the weight gain velocity by 1.7 times in preschool children. The linear growth was 1.04 times higher than the control. The absorption of micronutrients such as iron, vitamin K, calcium, and magnesium was higher in the ONS group.Conclusions: This study indicates that the ONS containing macro and micronutrients, docosahexaenoic acid (DHA), and prebiotics can potentiate growth and development in preschool children. It provides micronutrients that can be readily absorbed which are essential for other vital functions in the body.
最佳营养是儿童生长发育的基石。童年是一个快速成长和发展的时期。学龄前儿童的营养需求较高,往往面临营养缺乏的风险。目的:本研究旨在评估一种口服营养补充剂(ONS)对代表性人群生长参数的影响。方法:采用基于系统生物学的儿童生长数学模型,分析ONS对具有代表性的矽科学龄前儿童生长的影响。分析包括体重、身高、肌肉量、脂肪量、无脂肪量和骨量的平均生长速度的变化。我们使用元数据分析来评估ONS中存在的影响学龄前儿童生长的微量营养素的吸收。结果:分析结果显示,1份牛奶中添加ONS /d可使学龄前儿童增重速度提高1.7倍。线性生长是对照的1.04倍。ONS组对铁、维生素K、钙和镁等微量营养素的吸收率更高。结论:本研究提示,含有宏量营养素和微量营养素、二十二碳六烯酸(DHA)和益生元的ONS具有促进学龄前儿童生长发育的作用。它提供了易于吸收的微量营养素,对身体的其他重要功能至关重要。
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引用次数: 0
Early life antibiotic exposure and inflammatory bowel disease 早期抗生素暴露与炎症性肠病
Pub Date : 2022-12-07 DOI: 10.32677/ijch.v9i11.3741
Rashmi Agrawal, Amit Agrawal, J. Jacson
Inflammatory bowel disease (IBD) is known to affect millions of people worldwide and is primarily caused due to abnormal due to abnormal immune responses to intestinal microbes. IBD is primarily categorized under two main types – ulcerative colitis and Crohn’s disease. Although the cause of IBD is still an unsolved puzzle, its development can be attributed to the presence of various risk factors including antibiotic use. The intestinal immune system is the point of genesis of IBD and anything that creates an imbalance can trigger IBD. Alterations in the gut microbiota can lead to reduced microbial populations and lead a chronic inflammation state. Antibiotics may influence microbial maturity and can hamper the formation of a strong immune system. This makes an individual vulnerable to the threat of infections and subsequent development of a chronic inflammation state. Studies have implicated that the use of antibiotics during pregnancy, antepartum, and among neonates is associated with the development of IBD. Adequate development of the microbial niche takes place within the first 2 years of life and extensive administration of antibiotics during this period can pose a significant risk for the development of IBD. Animal studies have also documented the role of in utero antibiotic exposure during the antepartum period and the subsequent risk of developing IBD in the offspring. This review summarizes the role of antibiotic exposure during pregnancy and infancy in the development of IBD.
众所周知,炎症性肠病(IBD)影响着全世界数百万人,主要是由于对肠道微生物的异常免疫反应引起的。IBD主要分为两种类型——溃疡性结肠炎和克罗恩病。尽管IBD的病因仍是一个未解之谜,但其发展可归因于包括抗生素使用在内的各种危险因素的存在。肠道免疫系统是IBD的起源点,任何造成不平衡的东西都可能引发IBD。肠道菌群的改变可导致微生物数量减少,并导致慢性炎症状态。抗生素可能会影响微生物的成熟,并阻碍强大免疫系统的形成。这使得个体容易受到感染的威胁和随后的慢性炎症状态的发展。研究表明,在妊娠期、产前和新生儿中使用抗生素与IBD的发展有关。微生物生态位的充分发育发生在生命的头两年,在此期间广泛使用抗生素可能对IBD的发展构成重大风险。动物研究也记录了产前子宫内抗生素暴露的作用以及随后在后代中发生IBD的风险。本文综述了妊娠期和婴儿期抗生素暴露在IBD发展中的作用。
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引用次数: 0
Neonatal purpura fulminans: A rare, life-threatening, and rapidly progressing disorder of coagulation 新生儿暴发性紫癜:一种罕见的、危及生命的、进展迅速的凝血疾病
Pub Date : 2022-09-25 DOI: 10.32677/ijch.v9i9.3588
S. Rudrappa, Thanuja B, Chandana N S
Background: Neonatal purpura fulminans (NPF) is a life-threatening rare disease, which can be caused by deficiencies of protein C or protein S in a congenital or acquired manner. It is characterized by thrombosis of microvasculature, peri-vascular hemorrhage, and disseminated intravascular coagulation (DIC) occurring in the neonatal period. Clinical Description: A term female baby presented at 40 h of life with multiple purpuric rashes over the left foot which over 1 day extended until the knee. Over the next 3 days, there was rapid progression to involve extensive areas of necrosis with gangrene of toes of left foot, both forearms, bilateral temporal areas, peri-orbital regions, and left ear, in addition to multiple hemorrhagic blebs. Management and Outcome: Investigations showed anemia and thrombocytopenia with normal leucocyte count. DIC was suspected (INR 2), sepsis screen was negative, and fresh frozen plasma (FFP) was transfused 8th hourly. Arterial and venous Doppler was normal and blood culture showed no growth. Suspecting NPF, protein C, protein S, and anti-thrombin levels were sent, which showed a low protein C and protein S value. Mutations involving factor V Leiden, prothrombin gene, and MTHFR gene were not detected. The baby was started on low molecular weight heparin and, FFP and platelet concentrate replacement were continued, but she succumbed to the illness. Conclusion: NPF is a rare life-threatening entity that is fatal without prompt recognition of the condition. Therefore, it is necessary to recognize it early and initiate treatment.
背景:新生儿暴发性紫癜(NPF)是一种危及生命的罕见疾病,可由先天性或获得性蛋白质C或蛋白质S缺乏引起。其特点是发生在新生儿期的微血管血栓形成、血管周围出血和弥散性血管内凝血(DIC)。临床描述:一个足月女婴在出生40小时时出现了左脚多发紫癜疹,超过1天,一直延伸到膝盖。在接下来的3天内,患者迅速发展为大面积坏疽性坏死,包括左脚脚趾、双前臂、双侧颞区、眶周区和左耳,并伴有多发出血性水泡。处理和结果:调查显示贫血和血小板减少,白细胞计数正常。怀疑DIC (INR 2),败血症筛查阴性,第8小时输入新鲜冷冻血浆(FFP)。动、静脉多普勒检查正常,血培养未见生长。疑似NPF、蛋白C、蛋白S、抗凝血酶水平均呈低蛋白C、低蛋白S值。未检测到Leiden因子、凝血酶原基因和MTHFR基因的突变。婴儿开始使用低分子肝素,并继续使用FFP和血小板浓缩物替代,但她死于疾病。结论:NPF是一种罕见的危及生命的疾病,如果不及时发现,可能会致命。因此,有必要及早发现并开始治疗。
{"title":"Neonatal purpura fulminans: A rare, life-threatening, and rapidly progressing disorder of coagulation","authors":"S. Rudrappa, Thanuja B, Chandana N S","doi":"10.32677/ijch.v9i9.3588","DOIUrl":"https://doi.org/10.32677/ijch.v9i9.3588","url":null,"abstract":"Background: Neonatal purpura fulminans (NPF) is a life-threatening rare disease, which can be caused by deficiencies of protein C or protein S in a congenital or acquired manner. It is characterized by thrombosis of microvasculature, peri-vascular hemorrhage, and disseminated intravascular coagulation (DIC) occurring in the neonatal period. Clinical Description: A term female baby presented at 40 h of life with multiple purpuric rashes over the left foot which over 1 day extended until the knee. Over the next 3 days, there was rapid progression to involve extensive areas of necrosis with gangrene of toes of left foot, both forearms, bilateral temporal areas, peri-orbital regions, and left ear, in addition to multiple hemorrhagic blebs. Management and Outcome: Investigations showed anemia and thrombocytopenia with normal leucocyte count. DIC was suspected (INR 2), sepsis screen was negative, and fresh frozen plasma (FFP) was transfused 8th hourly. Arterial and venous Doppler was normal and blood culture showed no growth. Suspecting NPF, protein C, protein S, and anti-thrombin levels were sent, which showed a low protein C and protein S value. Mutations involving factor V Leiden, prothrombin gene, and MTHFR gene were not detected. The baby was started on low molecular weight heparin and, FFP and platelet concentrate replacement were continued, but she succumbed to the illness. Conclusion: NPF is a rare life-threatening entity that is fatal without prompt recognition of the condition. Therefore, it is necessary to recognize it early and initiate treatment.","PeriodicalId":22476,"journal":{"name":"The Indian journal of child health","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76442180","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
Prevalence of stunting and determinants of growth failure in children with Type 1 diabetes 1型糖尿病儿童发育迟缓的患病率和生长衰竭的决定因素
Pub Date : 2022-09-24 DOI: 10.32677/ijch.v9i9.3635
S. Bhor, C. Oza, A. Khadilkar, Dipali Ladkat, K. Gondhalekar, V. Khadilkar
Objectives: India is home to the highest number of prevalent cases of Type-1 diabetes (T1D) in children. There is scarcity of data on the growth failure of children with diabetes, especially those having complications and comorbidities, thus, we conducted this study with the objective to determine the prevalence and predictors of stunting in children with T1D. Methods: This cross-sectional study included 350 children and adolescents aged 1–18 years with T1D. Demographic data, anthropometry, diet, sexual maturity rating, and biochemical measurements were performed using standard protocols. Short stature was defined as height for age Z-score <−2. p<0.05 was considered statistically significant. Results: We report a 15.7% prevalence of stunting in our cohort of children with T1D. Stunted children had higher cholesterol, lower hemoglobin, lower mid-parental height Z-scores, and higher urinary albumin creatinine ratio. Binary logistic regression revealed that pre-existing comorbidities, compromised renal function, longer disease duration, and short mid-parental height were significant predictors of stunting. Conclusion: A little under one-sixth of children with T1D had short stature. Monitoring growth in these patients, especially in subjects with short parents, prolonged duration of diabetes, existing comorbidities, and deteriorating renal function are critical.
目标:印度是儿童1型糖尿病(T1D)患病率最高的国家。由于缺乏关于糖尿病儿童生长衰竭的数据,特别是那些有并发症和合并症的数据,因此,我们进行了这项研究,目的是确定T1D儿童发育迟缓的患病率和预测因素。方法:本横断面研究纳入350例1-18岁T1D儿童和青少年。人口统计数据、人体测量、饮食、性成熟评分和生化测量采用标准方案进行。矮身材定义为年龄Z-score < - 2时的身高。P <0.05为差异有统计学意义。结果:我们报告在我们的T1D患儿队列中发育迟缓的患病率为15.7%。发育不良儿童胆固醇较高,血红蛋白较低,父母中等身高z分数较低,尿白蛋白肌酐比值较高。二元logistic回归分析显示,既存合并症、肾功能受损、病程较长、亲代中等身高较矮是发育迟缓的重要预测因素。结论:略低于六分之一的T1D患儿身材矮小。监测这些患者的生长情况至关重要,特别是那些父母时间短、糖尿病持续时间长、现有合并症和肾功能恶化的患者。
{"title":"Prevalence of stunting and determinants of growth failure in children with Type 1 diabetes","authors":"S. Bhor, C. Oza, A. Khadilkar, Dipali Ladkat, K. Gondhalekar, V. Khadilkar","doi":"10.32677/ijch.v9i9.3635","DOIUrl":"https://doi.org/10.32677/ijch.v9i9.3635","url":null,"abstract":"Objectives: India is home to the highest number of prevalent cases of Type-1 diabetes (T1D) in children. There is scarcity of data on the growth failure of children with diabetes, especially those having complications and comorbidities, thus, we conducted this study with the objective to determine the prevalence and predictors of stunting in children with T1D. Methods: This cross-sectional study included 350 children and adolescents aged 1–18 years with T1D. Demographic data, anthropometry, diet, sexual maturity rating, and biochemical measurements were performed using standard protocols. Short stature was defined as height for age Z-score <−2. p<0.05 was considered statistically significant. Results: We report a 15.7% prevalence of stunting in our cohort of children with T1D. Stunted children had higher cholesterol, lower hemoglobin, lower mid-parental height Z-scores, and higher urinary albumin creatinine ratio. Binary logistic regression revealed that pre-existing comorbidities, compromised renal function, longer disease duration, and short mid-parental height were significant predictors of stunting. Conclusion: A little under one-sixth of children with T1D had short stature. Monitoring growth in these patients, especially in subjects with short parents, prolonged duration of diabetes, existing comorbidities, and deteriorating renal function are critical.","PeriodicalId":22476,"journal":{"name":"The Indian journal of child health","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77763486","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
Pediatric cough as a symptom: Tips for management 小儿咳嗽作为一种症状:处理技巧
Pub Date : 2022-09-17 DOI: 10.32677/ijch.v9i9.3362
S. Bavdekar, A. Vora, Sonali Karekar
Cough in children and adults is a commonly witnessed symptom that can be related to a serious underlying disease. It is a reflex phenomenon that protects the airways and lungs by eliminating mucus, inhaled irritants, pathogens, and particulates and further helps in clearing out the air spaces of accumulated secretions. However, cough in children and adults has some notable differences based on various parameters, including duration, symptoms witnessed, duration, and etiology. Therefore, the tools and processes commonly employed for evaluating cough in adults may not apply to pediatric patients. Furthermore, the management of cough, in general, should be based on the etiology instead of the underlying disease condition. There is a relative paucity of data related to pediatric cough in comparison to adult cough, making the management of cough challenging. This article provides a comprehensive review of cough management in children in Indian scenarios.
儿童和成人咳嗽是一种常见的症状,可能与严重的潜在疾病有关。这是一种反射现象,通过清除粘液、吸入的刺激物、病原体和微粒来保护气道和肺部,并进一步帮助清除积聚的分泌物。然而,儿童和成人咳嗽在持续时间、症状、持续时间和病因等参数上存在一些显著差异。因此,通常用于评估成人咳嗽的工具和过程可能不适用于儿科患者。此外,咳嗽的管理,一般来说,应基于病因,而不是潜在的疾病状况。与成人咳嗽相比,儿童咳嗽的相关数据相对缺乏,这使得咳嗽的管理具有挑战性。这篇文章提供了一个全面的审查咳嗽管理的儿童在印度的情况。
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引用次数: 1
Efficacy of inhaled salbutamol therapy through nebulizer versus mdi with spacer in children with acute asthmatic attack and short-term course 雾化吸入沙丁胺醇与间隔剂吸入沙丁胺醇治疗儿童急性哮喘发作及短期病程的疗效比较
Pub Date : 2022-08-31 DOI: 10.32677/ijch.v9i8.3433
A. Yadav, S. Gupta, Kawalpreet Chhabra, O. Chaurasiya, M. Shastri
Introduction: Asthma is a common chronic disease in childhood and has been subject of studies for at least two decades, due to its increasing prevalence. The symptoms are persistent, recurrent, and entirely related to bronchial hyper-responsiveness to many environmental triggers. Nebulization and metered dose inhaler (MDI) are two available modalities of salbutamol administration in patients with acute asthmatic attack. Aim: The aim of the study was to compare the relative efficacy of nebulizer and MDI with spacer for the administration of salbutamol in the treatment of acute asthmatic attack. Materials and Methods: A randomized, prospective, and interventional study was conducted on 100 children aged 1–12 years with acute asthmatic attack at a tertiary care. The subjects were randomized into two groups for salbutamol administration. Group I was given salbutamol by nebulizer and Group II by MDI with spacer. Demographic data and detailed history was collected. Children were categorized into mild, moderate, and severe grade according to peak expiratory flow rate (PEFR) and pulmonary index (PI) score. Oxygen saturation, PEFR, and PI were monitored at 0, 20, 40, and 60 min of therapy. Other details such as duration of hospital stay and oxygen requirement were also noted. Results: One hundred children with male female ratio of 1.12:1 were included in the study. Highest incidence was seen in age group of 1–3 years (38%). Statistically significant change in PI and PEFR was noted with treatment in both the groups (p<0.05). On comparison between MDI and nebulizer group, no statistically significant difference was found (p>0.05). Conclusion: MDI with spacer is an effective alternative to nebulizer for the administration of salbutamol drug in acute asthmatic attack in pediatric patients.
简介:哮喘是一种常见的儿童慢性疾病,由于其发病率不断上升,至少二十年来一直是研究的主题。这些症状是持续的,反复发作的,完全与支气管对许多环境诱因的高反应性有关。雾化和计量吸入器(MDI)是急性哮喘发作患者沙丁胺醇给药的两种可用方式。目的:比较雾化器、MDI和间隔剂在沙丁胺醇给药治疗急性哮喘发作中的相对疗效。材料和方法:一项随机、前瞻性和干预性研究对100名1-12岁在三级医疗机构急性哮喘发作的儿童进行了研究。受试者随机分为两组给予沙丁胺醇治疗。ⅰ组采用沙丁胺醇喷雾器,ⅱ组采用MDI加间隔剂。收集了人口统计数据和详细的病史。根据呼气峰值流速(PEFR)和肺指数(PI)评分将患儿分为轻度、中度和重度。在治疗0、20、40和60分钟时监测血氧饱和度、PEFR和PI。还注意到住院时间和需氧量等其他细节。结果:纳入儿童100例,男女比例为1.12:1。发病率最高的年龄组为1-3岁(38%)。两组患者PI、PEFR随治疗变化均有统计学意义(p0.05)。结论:小儿急性哮喘发作时,MDI加间隔器是沙丁胺醇类药物给药的有效替代雾化器。
{"title":"Efficacy of inhaled salbutamol therapy through nebulizer versus mdi with spacer in children with acute asthmatic attack and short-term course","authors":"A. Yadav, S. Gupta, Kawalpreet Chhabra, O. Chaurasiya, M. Shastri","doi":"10.32677/ijch.v9i8.3433","DOIUrl":"https://doi.org/10.32677/ijch.v9i8.3433","url":null,"abstract":"Introduction: Asthma is a common chronic disease in childhood and has been subject of studies for at least two decades, due to its increasing prevalence. The symptoms are persistent, recurrent, and entirely related to bronchial hyper-responsiveness to many environmental triggers. Nebulization and metered dose inhaler (MDI) are two available modalities of salbutamol administration in patients with acute asthmatic attack. Aim: The aim of the study was to compare the relative efficacy of nebulizer and MDI with spacer for the administration of salbutamol in the treatment of acute asthmatic attack. Materials and Methods: A randomized, prospective, and interventional study was conducted on 100 children aged 1–12 years with acute asthmatic attack at a tertiary care. The subjects were randomized into two groups for salbutamol administration. Group I was given salbutamol by nebulizer and Group II by MDI with spacer. Demographic data and detailed history was collected. Children were categorized into mild, moderate, and severe grade according to peak expiratory flow rate (PEFR) and pulmonary index (PI) score. Oxygen saturation, PEFR, and PI were monitored at 0, 20, 40, and 60 min of therapy. Other details such as duration of hospital stay and oxygen requirement were also noted. Results: One hundred children with male female ratio of 1.12:1 were included in the study. Highest incidence was seen in age group of 1–3 years (38%). Statistically significant change in PI and PEFR was noted with treatment in both the groups (p<0.05). On comparison between MDI and nebulizer group, no statistically significant difference was found (p>0.05). Conclusion: MDI with spacer is an effective alternative to nebulizer for the administration of salbutamol drug in acute asthmatic attack in pediatric patients.","PeriodicalId":22476,"journal":{"name":"The Indian journal of child health","volume":"166 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77868637","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
Galactosialidosis presenting as non-immune hydrops in a newborn: A case report 新生儿半乳糖唾液中毒表现为非免疫性水肿1例报告
Pub Date : 2022-08-31 DOI: 10.32677/ijch.v9i8.3568
Anu Sharma, Radhika Sujatha, S. H, Krishna Neisseril, Akash G. Nair
Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation in a single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are due to cardiac, lymphatic dysplasia, and hematological disorders. Inborn errors of metabolism account for NIHF in 1.3% of patients. Among metabolic disorders, around 14 LSDs have been reported as being associated with NIHF and congenital ascites. In the present case, we report an early infantile form of galactosialidosis with a novel homozygous miss-sense mutation c.319 A>C (p. Ser107 Arg) in exon 3 of CTSA gene in a newborn who presented as non-immune hydrops. The baby also had coarse facies, wide anterior fontanelle, hypertelorism, bilateral congenital talipes equinovarus, hepatosplenomegaly, nephrocalcinosis, and disproportionately small limbs with metaphyseal irregularity. Gradually, he developed worsening cardiac functions and cardiomyopathy and succumbed to death on day 47 of life. Being an autosomal recessive disorder, it can recur in the next pregnancy and treatment is mainly supportive. Targeted prenatal diagnostics in subsequent pregnancies can help in early diagnosis.
半乳糖唾液中毒是一种罕见的常染色体隐性溶酶体贮积症(LSD)。它是由位于染色体20q13.12上的保护性蛋白组织蛋白酶a (CTSA)编码的单个基因突变导致糖蛋白降解缺陷引起的。目前公认的大多数非免疫性积水胎儿(NIHF)是由于心脏、淋巴发育不良和血液系统疾病引起的。在1.3%的患者中,先天性代谢错误导致了NIHF。在代谢性疾病中,约有14种lsd被报道与NIHF和先天性腹水有关。在本病例中,我们报告了一种新型纯合缺失意义突变c.319的早期婴儿形式的半乳糖唾液中毒非免疫性水肿新生儿CTSA基因外显子A>C (p. Ser107 Arg)。婴儿还表现为相粗、前囟门宽、远端过远、双侧先天性马蹄内翻、肝脾肿大、肾钙质沉着、四肢不成比例地小且干骺端不规则。患者逐渐出现心功能恶化和心肌病,于出生后第47天死亡。作为一种常染色体隐性遗传病,它可以在下次怀孕时复发,治疗主要是支持性的。在随后的怀孕中进行有针对性的产前诊断有助于早期诊断。
{"title":"Galactosialidosis presenting as non-immune hydrops in a newborn: A case report","authors":"Anu Sharma, Radhika Sujatha, S. H, Krishna Neisseril, Akash G. Nair","doi":"10.32677/ijch.v9i8.3568","DOIUrl":"https://doi.org/10.32677/ijch.v9i8.3568","url":null,"abstract":"Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation in a single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are due to cardiac, lymphatic dysplasia, and hematological disorders. Inborn errors of metabolism account for NIHF in 1.3% of patients. Among metabolic disorders, around 14 LSDs have been reported as being associated with NIHF and congenital ascites. In the present case, we report an early infantile form of galactosialidosis with a novel homozygous miss-sense mutation c.319 A>C (p. Ser107 Arg) in exon 3 of CTSA gene in a newborn who presented as non-immune hydrops. The baby also had coarse facies, wide anterior fontanelle, hypertelorism, bilateral congenital talipes equinovarus, hepatosplenomegaly, nephrocalcinosis, and disproportionately small limbs with metaphyseal irregularity. Gradually, he developed worsening cardiac functions and cardiomyopathy and succumbed to death on day 47 of life. Being an autosomal recessive disorder, it can recur in the next pregnancy and treatment is mainly supportive. Targeted prenatal diagnostics in subsequent pregnancies can help in early diagnosis.","PeriodicalId":22476,"journal":{"name":"The Indian journal of child health","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80630090","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
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The Indian journal of child health
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