Journal of Child Science最新文献_第9页

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene Lowe综合征：OCRL基因新突变的复杂临床诊断

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1724042

A. Parikh, P. Gadgil

{"title":"Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene","authors":"A. Parikh, P. Gadgil","doi":"10.1055/s-0041-1724042","DOIUrl":"https://doi.org/10.1055/s-0041-1724042","url":null,"abstract":"Abstract Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection, finally leading to the clinical suspicion of LS. The diagnosis was confirmed on genetic analysis as well as a previously unreported mutation in the OCRL gene was discovered. A 9-year-old boy with intellectual disability and recent onset seizures was referred for the evaluation of rickets. In addition, there was a significant past history of neonatal cataracts, infantile glaucoma, persistent albuminuria, and severe short stature with growth hormone deficiency. The characteristic involvement of eyes, brain, and kidneys along with a family history of a maternal uncle being similarly affected led to the clinical suspicion of LS. A whole exome sequencing was performed, which not only confirmed a nonsense mutation, c.2530C > T, in exon 23 of the Lowe gene (OCRL) but also revealed it to be a novel pathogenic variant. This case highlights the importance of piecing together the different facets of a complex clinical syndrome in reaching a challenging diagnosis. Also, LS must be kept as a differential in any child with neonatal cataracts and intellectual disability. Genetic confirmation of LS in our patient partly relieved the parental anxiety, and the child continued to remain under follow-up with multiple specialists, only now with a definite diagnosis.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1724042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45191425","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

Current Treatment Guidelines of SARS-CoV-2 Related Multisystem Inflammatory Syndrome in Children: A Literature Review and Expert Opinion 儿童严重急性呼吸系统综合征冠状病毒2型相关多系统炎症综合征的治疗指南：文献综述和专家意见

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1731077

A. Ghodsi, Mehrdad Sarabi, A. Malek, A. Khakshour

引用次数: 3

A Study on Burden of Prehypertension in Youth (or Pediatric Hypertension) in West Bengal, India 印度西孟加拉邦青少年（或儿童高血压）高血压负担的研究

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1736240

S. RoyChoudhury, K. Nayek, Jinia Saha

{"title":"A Study on Burden of Prehypertension in Youth (or Pediatric Hypertension) in West Bengal, India","authors":"S. RoyChoudhury, K. Nayek, Jinia Saha","doi":"10.1055/s-0041-1736240","DOIUrl":"https://doi.org/10.1055/s-0041-1736240","url":null,"abstract":"Abstract Hypertension is a silent threat to the developing countries in recent times. The aim of this article was to determine the burden of prehypertension and hypertension among school-going children and the risk factors associated with those conditions. A cross-sectional study was conducted among school-going children (6–18 years) in seven schools of Burdwan, West Bengal, India, selected by stratified random sampling from March 2017 to August 2018. Anthropometric and blood pressure measurements were obtained along with sociodemographic parameters. Prehypertension and hypertension were defined as per American Pediatric Society's definition. Mean age of the study population was 11.3 ± 3.8 years (n = 604). Prevalence of prehypertension and hypertension was estimated to be 5% and 4.6%, respectively. Both prehypertension and hypertension were more common among children aged > 15 years (10.3% and 15.5%). In logistic regression, the independent determinants of hypertension were higher socioeconomic condition, increasing age, obesity, increased intake of junk food, parental hypertension, and obesity among first-degree relatives. Proper preventive measures are the need of the hour to tackle the emerging epidemic at its root. Periodic measurements of blood pressure at regular intervals are advisable at community levels to recognize high-risk children, control obesity, and prevent irreversible end organ damages.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42517844","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

Assessment of the Utility of Plusoptix A09 Handheld Photo-refractometer in Screening Refractory Errors and Amblyopia in Children Plusoptix A09手持式照片折射仪在筛查儿童难治性错误和弱视中的应用评估

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1728731

M. S. Sinanoglu, Y. Cengiz, S. Demirel

{"title":"Assessment of the Utility of Plusoptix A09 Handheld Photo-refractometer in Screening Refractory Errors and Amblyopia in Children","authors":"M. S. Sinanoglu, Y. Cengiz, S. Demirel","doi":"10.1055/s-0041-1728731","DOIUrl":"https://doi.org/10.1055/s-0041-1728731","url":null,"abstract":"Abstract The aim of this study is to find out the frequency of anisometropic amblyopia in children and to increase awareness about this disease. All children between the ages of 4 and 10 years who were attending 11 kindergarten and primary schools determined by provincial directorate for national education in the center of Malatya were included. A screening team including interns and a resident from the Department of Pediatrics have used Plusoptix A09 handheld photo-refractometer device for detecting amblyopia and its reasons. A total of 7,000 students were screened. The mean age of the students was 7.4 ± 2 years. Amblyopia was suspected in 357 cases with the Plusoptix S09 screening. After eye examinations performed by an ophthalmologist, 303 cases were found to have pathologic eye examination. Amblyopia was found in 67 (18.8%) of the 303 cases, and anisometropic amblyopia was found in 59 of 67 cases. As a result of the screening, sensitivity of Plusoptix A09 was found to be 88.1%, while its specificity was found to be 88.6%. Its positive predictive value was found to be 64.0% and its negative predictive value was found to be 97.0%. We believe that with screenings performed by health professionals who are given short-term training by using a device that can conduct remote measurements, detection of anisometropic amblyopia, which is the most frequent reason for amblyopia, can be done in a fast and relatively less expensive way and with the minimum number of specialist physician required. This way, children with amblyopia can reach the ophthalmologist earlier for treatment.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1728731","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42817613","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

The Clinical Profile, Early Warning Score, and Outcome of Children Aged 0–12 Years Referred to a Tertiary Care Hospital in North India 北印度0-12岁儿童转诊至三级护理医院的临床概况、预警评分和结果

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1731334

B. Eswaramoorthy, R. Gupta, M. Bhatt, M. Roy

{"title":"The Clinical Profile, Early Warning Score, and Outcome of Children Aged 0–12 Years Referred to a Tertiary Care Hospital in North India","authors":"B. Eswaramoorthy, R. Gupta, M. Bhatt, M. Roy","doi":"10.1055/s-0041-1731334","DOIUrl":"https://doi.org/10.1055/s-0041-1731334","url":null,"abstract":"Abstract Pediatric patients are referred for multiple reasons, either for better therapeutic services or diagnostic purposes. The clinical condition of patients at the time of referral can significantly affect the outcome of such patients and there is not much data on this aspect. The overall objective of this study was to study the demographic and clinical profile, the causes for referral, and the outcome of pediatric patients being referred to a single tertiary care hospital. This was a prospective observational study done in the Department of Pediatrics of a single tertiary care hospital in North India over the course of 1 year. Patients referred from other health facilities in the age group 0 to 12 years who were admitted in the pediatric ward of the hospital were enrolled. The primary objective was to study the clinical profile and outcome (mortality) of these patients. The secondary objectives were to study the referral pattern of the referred patients, causes for referral, and the severity of illness at the time of admission as assessed by Irish Pediatric Early Warning Score (PEWS) and its correlation with the outcome. The outcomes were categorized as: discharge, death, left against medical advice, referred to other centers, others. Early warning scores are useful to measure the severity of disease and to follow patients' progress. The Irish PEWS score was used in this study to provide a rapid measure of the degree of sickness. Respiratory system disorders and neonatal illnesses were the most common illnesses observed. Most patients had low disease severity as per Irish PEWS score. The overall mortality rate among the referred patients was 19.25%. Patients with younger age, higher scores, neonatal illnesses, and neurological disorders had higher risk of mortality. Training of health personnel at primary and secondary levels in the commonly encountered illnesses will improve provision of care at the local level and decrease low risk referrals.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1731334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44368364","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

Infantile Isolated Absence of Right Pulmonary Artery with an Absent Stump and No Collaterals 婴儿孤立性右肺动脉缺失，残端缺失，无络腮

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0040-1722567

S. Patil, Sayantan Ghoshbag, U. Pillay

引用次数: 0

Primary Teeth Stains and Discoloration: A Review 乳牙染色和变色:综述

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0040-1722276

Abdulfatah Alazmah

{"title":"Primary Teeth Stains and Discoloration: A Review","authors":"Abdulfatah Alazmah","doi":"10.1055/s-0040-1722276","DOIUrl":"https://doi.org/10.1055/s-0040-1722276","url":null,"abstract":"Abstract The current review assesses the literature concerning the etiology of primary teeth staining and discoloration. The appearance of the dentition is of concern to many children and their caregivers seeking dental treatment as the color of the teeth is of aesthetic importance. The correct diagnosis of the cause of the discoloration is important as, invariably, it has a profound effect on treatment outcomes. It would seem reasonable, therefore, that dental practitioners understand the etiology of tooth discoloration to make a diagnosis and enable appropriate treatment to be conducted. Knowledge of the etiology of tooth staining is of importance to the dental practitioner to explain the patient the exact nature of the condition. In some instances, the mechanism of staining affects the outcome of the treatment and influences the options the dentist will be able to offer. Many of these contributing factors are preventable if parents are educated, managed by professional interventions, or provide a multidisciplinary approach. In this review, we highlight the importance of children smiles and the difference between primary and permanent teeth. We discuss the different types of primary teeth staining and discoloration and whether it is intrinsic or extrinsic, as well as the different impacts of some conditions on primary teeth compared with permanent teeth.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1722276","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46695120","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: 4

Lactoferrin Efficacy versus Ferrous Sulfate in Treatment of Children with Iron Deficiency Anemia 乳铁蛋白与硫酸亚铁治疗儿童缺铁性贫血的疗效比较

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1731073

O. El-Asheer, Ahmed G. Ahmed, Z. Hafez, M. Dahpy, Amal A. S. Soliman

引用次数: 2

Delayed Cord Clamping in Infants of Diabetic Mothers: Laboratory and Clinical Outcomes 糖尿病母亲婴儿延迟脐带夹闭的实验室和临床结果

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1726460

S. Abdelmaksoud, Heba Elsayed Abdelraziq, R. Khashaba, A. Diab

{"title":"Delayed Cord Clamping in Infants of Diabetic Mothers: Laboratory and Clinical Outcomes","authors":"S. Abdelmaksoud, Heba Elsayed Abdelraziq, R. Khashaba, A. Diab","doi":"10.1055/s-0041-1726460","DOIUrl":"https://doi.org/10.1055/s-0041-1726460","url":null,"abstract":"Abstract The aim of this study was to compare the effects of delayed cord clamping (DCC) and early cord clamping (ECC) on venous hematocrit (htc) and clinical outcomes in infants of diabetic mothers (IDMs). This prospective randomized study included 157 term IDMs. The umbilical cords of these infants were clamped at least 60 seconds in group I (DCC group, n = 79) and as soon as possible after birth in group II (ECC group, n = 78). The two groups were compared regarding neonatal venous htc levels, hypoglycemia rates, jaundice requiring phototherapy, respiratory distress, and admission to the neonatal intensive care unit (NICU). Hematocrit levels were significantly higher in the DCC group, both at 6 and 24 hours postnatally (p = 0.039 and 0.01), respectively. Polycythemia frequency was higher in DCC than the ECC group, but no patient in either group needed partial exchange transfusion (PET). Rates of jaundice were significantly higher in the DCC group (p = 0.028), but there was no significant difference between the two groups regarding jaundice requiring phototherapy (p = 0.681). There were no differences between the groups regarding hypoglycemia rates, need for glucose infusion, or respiratory distress. The incidence of admission to NICU was lower in the DCC group (p = 0.005). Early clamping was a significant predictor for increased risk of NICU admission. DCC increased polycythemia and jaundice rates but did not increase the need for PET or phototherapy. Also, DCC reduced the severity of respiratory distress and the subsequent need for NICU admission.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":null,"pages":null},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1726460","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47797356","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

Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation Van Buchem病:印度次大陆首例早期表现的病例报告

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1723956

S. Maheshwari, S. Yangzom, K. Bhanu, U. Rajesh, Ashok Narayan

引用次数: 0