Journal of Child Science最新文献_第10页

Study on Inborn and Outborn Neonatal Admissions in Relation to Gestational Maturity in Neonatal Intensive Care Unit at a Tertiary Care University Hospital in Upper Egypt 上埃及某三级大学医院新生儿重症监护病房中与胎龄有关的先天和先天新生儿入院情况研究

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1736478

Safwat M. Abdel-Aziz, Enas A. Hamed, A. Shalaby

{"title":"Study on Inborn and Outborn Neonatal Admissions in Relation to Gestational Maturity in Neonatal Intensive Care Unit at a Tertiary Care University Hospital in Upper Egypt","authors":"Safwat M. Abdel-Aziz, Enas A. Hamed, A. Shalaby","doi":"10.1055/s-0041-1736478","DOIUrl":"https://doi.org/10.1055/s-0041-1736478","url":null,"abstract":"Neonatal morbidity and mortality rates indicate a country's socioeconomic status and the quality, and effectiveness of its health care system. This research aimed to identify the clinical pattern and causes of neonatal admission for inborn and outborn babies in a tertiary care university hospital and their outcomes. Over a year, this prospective hospital-based research was conducted in the neonatal intensive care unit (NICU) of Assiut Children's Hospital in Upper Egypt (January 1st to December 31st, 2020). Gender, birth weight, gestational age, postnatal age, delivery mode, delivery place, admission cause, hospital stay period, and neonatal outcomes were collected. A total of 1,638 newborns were admitted; 930 (56.8%) were preterm and 708 (43.2%) full-term. Inborn admissions were 1,056 (64.5%) and outborn 582 (35.5%). The majority of inborn admissions were preterm 726 (68.8%), and outborn were full-term 378 (64.9%). The commonest admission causes among inborn and outborn preterm infants were respiratory distress syndrome (84.3%) and congenital intestinal obstruction (22.5%), respectively, while multiple congenital anomalies were the commonest cause for admission among both inborn and outborn full-term babies. The mortality rate was 708 (43.2%), higher among inborn (50%) versus outborn (30.9%). The leading cause of death was respiratory distress syndrome among premature inborn with case fatality rate of (56.9%) and multiple congenital anomalies among premature outborn (60%), as well as inborn (67.4%), and outborn (42.6%) full-term neonates. In conclusion, the neonatal mortality rate was high among studied cases. Morbidity and mortality of respiratory distress syndrome and congenital anomalies were alarmingly high. Therefore, all health care providers must devote a considerable effort to improve health care delivered to these neonates.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42370843","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

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease 致死性常染色体隐性多囊肾病的PKHD1基因22外显子纯合错义突变

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1725175

Sajina Sathyan, Femitha Pournami, G. Madhavilatha, Amrita Tuteja, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain

{"title":"Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease","authors":"Sajina Sathyan, Femitha Pournami, G. Madhavilatha, Amrita Tuteja, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain","doi":"10.1055/s-0041-1725175","DOIUrl":"https://doi.org/10.1055/s-0041-1725175","url":null,"abstract":"Abstract Autosomal recessive polycystic kidney disease, described as a congenital hepatorenal fibrocystic syndrome, is a significant inherited cause of end stage renal failure in children with reported incidence of 1 in 20,000 live births. The clinical spectrum is wide. Antenatal findings of echogenic reniform enlarged kidneys associated with evidence of intrauterine renal failure in the form of severe oligoamnios are pathognomonic. Postnatal illness ranges from fatal respiratory failure due to pulmonary hypoplasia in neonates to chronic kidney disease in children, or later presentation of ductal plate malformation and portal hypertension. Advances in genetic diagnostic techniques have allowed recognition of genotypes. We report a novel homozygous missense variant on exon 22 of PKHD1 gene (chr6:51915067G > A; c.2167C > T) that results in the amino acid substitution of cysteine for arginine at codon 723 (p.Arg723Cys). The affected neonate presented with antenatal anhydramnios, classical radiological features, and severe hypoxic respiratory failure likely due to pulmonary hypoplasia and succumbed. The parents were found to be heterozygous carriers. Detection of the specific variant in the proband facilitated prenatal investigation in the next pregnancy.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":"11 1","pages":"e70 - e73"},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0041-1725175","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42395210","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

Precision Medicine with Genetic Testing in Neonatal Intensive care 基因检测在新生儿重症监护中的应用

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1733875

V. Anand, Femitha Pournami, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain

引用次数: 0

Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis Blau综合征合并不典型IIa型高须动脉炎

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1740463

Efstathia Danai C. Bikouli, A. Vazeou, M. Xatzipsalti, G. Servos, D. Delis, D. Maritsi

{"title":"Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis","authors":"Efstathia Danai C. Bikouli, A. Vazeou, M. Xatzipsalti, G. Servos, D. Delis, D. Maritsi","doi":"10.1055/s-0041-1740463","DOIUrl":"https://doi.org/10.1055/s-0041-1740463","url":null,"abstract":"Abstract Blau syndrome (BS) is a rare, autosomal dominant monogenic autoinflammatory disease, usually presenting as a triad of symptoms (granulomatous dermatitis, uveitis, and nonerosive arthritis) and caused by gain-of-function mutations in the nucleotide oligomerization domain 2 (NOD2) gene. However, very few reports in children of copresence of BS with large vessel vasculitis exist. We hereby describe a case of BS associated with clinical features of Takayasu arteritis. An 8.5-year-old boy presented with hypertension, cardiac insufficiency, arthritis, and ocular disease. Among other investigations, he underwent cervical and chest computed tomography and computed tomography angiography scans that revealed the presence of type IIa Takayasu arteritis lesions. Genetic analysis revealed a heterozygous mutation of NOD2 gene leading to the amino acid exchange Arg-587-Cys in the NACHT domain of the NOD2 protein (R587C) as pathogenic cause of BS. He received treatment with prednisolone, methotrexate, and infliximab (antitumor necrosis factor-α) in addition to antihypertensive medication with a favorable clinical response. Cases of BS should be investigated for the coexistence of Takayasu arteritis. However, further research is required to delineate a possible common pathogenic mechanism between the two clinical entities.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":"11 1","pages":"e313 - e316"},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45294877","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

Tea or Thrush?: A Case of Nonaccidental Oral Injury in an Infant 茶还是画眉？：一例婴儿非意外口腔损伤

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1733869

Meryam Jan, Kathleen Dully, C. Kostecki, R. Alexander

引用次数: 0

Streptococcal Throat Carriage among Primary School Children Living in Uyo, Southern Nigeria 奈及利亚南部尤约市小学生链球菌喉部感染

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0040-1722274

K. Edem, E. Ikpeme, M. Akpan

{"title":"Streptococcal Throat Carriage among Primary School Children Living in Uyo, Southern Nigeria","authors":"K. Edem, E. Ikpeme, M. Akpan","doi":"10.1055/s-0040-1722274","DOIUrl":"https://doi.org/10.1055/s-0040-1722274","url":null,"abstract":"Abstract Surveillance of the carrier state for β-hemolytic streptococcal (BHS) throat infections remains essential for disease control. Recent published works from Sub-Saharan Africa have suggested a changing epidemiology in the burden of BHS throat infections. The objective of the present study was therefore to determine the prevalence and pattern of BHS throat carriage in school-aged children in Uyo, Akwa Ibom State. This was a prospective cross-sectional study of 276 primary school children in Uyo. Subjects were recruited by multistage random sampling. Obtained throat swabs were cultured on 5% sheep blood agar. Lancefield grouping on positive cultures was done by using the Oxoid Streptococcal Grouping Latex Agglutination Kit, United Kingdom. Antimicrobial susceptibility testing was done with the disk diffusion method. Associations were tested with Fischer's exact test. The prevalence of BHS carriage was 3.3%. Group C Streptococcus was identified in 89% of isolates and Group G Streptococcus in 11%. Younger age and larger household size were associated with asymptomatic streptococcal throat infections. Antimicrobial susceptibility was highest with cefuroxime and clindamycin (89% of isolates each), while 78% of isolates were susceptible to penicillin. None of the tested isolates was susceptible to co-trimoxazole. The prevalence of streptococcal throat carriage in the study area was low. There were no Group A Streptococcus isolates suggesting an evolving epidemiology of BHS disease in the study area.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":"11 1","pages":"e28 - e34"},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1722274","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43146436","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

Extended Cranial Ultrasound Views in Infants with Acute Brain Stem/Infratentorial Lesions: Diagnosis of a Progressive Midline Glioma in a 6-Week-Old Infant 婴儿急性脑干/幕下病变的扩展颅骨超声视野：6周大婴儿进行性中线胶质瘤的诊断

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1736157

Matthias Lange, B. Mitzlaff, F. Beske, Holger Koester, Wiebke Aumann, J. Woitzik, Hermann L. Mueller, A. Heep

引用次数: 0

Inclusive Education for Children with Special Needs and Autism: Status in the Schools of Puducherry, India 对有特殊需求和自闭症儿童的包容性教育：印度普杜切里学校的现状

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1735882

Sujitha Mukkiri, P. Kandasamy, M. Subramanian, Venkatesh Chandrasekaran, S. Kattimani

{"title":"Inclusive Education for Children with Special Needs and Autism: Status in the Schools of Puducherry, India","authors":"Sujitha Mukkiri, P. Kandasamy, M. Subramanian, Venkatesh Chandrasekaran, S. Kattimani","doi":"10.1055/s-0041-1735882","DOIUrl":"https://doi.org/10.1055/s-0041-1735882","url":null,"abstract":"Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting social interaction and communication. Children with autism are at risk of school exclusion because of the inherent problems in behavior and communication. This study was performed in Puducherry to determine whether inclusive education is practiced for children with ASD and to ascertain the difficulties faced by educators in the schools that enroll children with ASD. This study was performed in the mainstream (regular) and special schools of Puducherry between November 2018 and February 2019. The mainstream schools were contacted over the telephone, by e-mail, and by regular post, and the investigator contacted the special schools in person. Data were collected using a semistructured proforma. A total of 66 schools participated in the survey (60 mainstream and 6 special schools). Among 60 mainstream schools comprising 3,967 children, 18 (0.45%) were children with special needs (CWSN) and 2 (0.05%) had ASD. In the six special schools comprising 2,167 children, 1,844 (85%) were CWSN and 323 (15%) were those with ASD. Among the 60 mainstream schools, only 14 (23.3%) schools had provision for special educators, accounting for 42 teachers. Behavioral problems were commonly reported in special schools. Enrollment of children with ASD is negligible in mainstream schools compared with special schools in Puducherry. More studies are needed to explore the reason for the same and to explore the feasibility of providing access to disabled children in mainstream schools.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":"11 1","pages":"e255 - e261"},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44512116","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: 2

Automated Infrared Pupillometer Use in Assessing the Neurological Status in Pediatric Neurocritical Care Patients: Case Reports and Literature Review 自动红外瞳孔计用于评估小儿神经危重症患者的神经状态:病例报告和文献综述

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1731074

Molly E. McGetrick, Nathan J. Schneider, Daiwai M. Olson, V. Aiyagari, D. Miles

引用次数: 1

Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience from Iran 转诊至儿童医学中心实验室诊断粘多糖的患者评估：来自伊朗的八年经验

IF 0.3

Journal of Child Science Pub Date : 2021-01-01 DOI: 10.1055/s-0041-1740059

Rokhsareh Jafaryazdi, S. Shams, A. Setoodeh, R. S. Badv, V. Ziaee, F. Abbasi, Mohammad Taghi Haghi Ashtiani, Fatemeh Mozafari, L. Shafeghat

{"title":"Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience from Iran","authors":"Rokhsareh Jafaryazdi, S. Shams, A. Setoodeh, R. S. Badv, V. Ziaee, F. Abbasi, Mohammad Taghi Haghi Ashtiani, Fatemeh Mozafari, L. Shafeghat","doi":"10.1055/s-0041-1740059","DOIUrl":"https://doi.org/10.1055/s-0041-1740059","url":null,"abstract":"Mucopolysaccharidoses (MPSs) are rare lysosomal storage diseases, resulting from deficiencies of enzymes responsible for Glycosaminoglycans (GAGs) degradation. This leads to accumulation of GAGs in tissues and their excretion in urine, with a wide variety of manifestations. Early diagnosis of MPSs is strictly recommended due to available therapy that can slow down disease progression during the early ages. This study aimed to evaluate patients with suspected MPS referred to Children's Medical Center laboratory over eight years. We also evaluated the usefulness of urine GAG as a screening test for identification of such patients. A total of 1414 patients (40% female, 60% male, with mean age 3.1 ± 4.1years) have participated in this study. The urinary GAG analysis (uGAG) was performed by 1, 9-dimethyl-methylene blue (DMMB) and Berry spot test (BST). All patients with positive and mild positive results or with disease-related symptoms were evaluated in terms of definitive diagnosis, received treatments, morbidity, and mortality rate. In 407 (36.5%) patients uGAG were positive or mild positive, of which 26.3% suffered from one of the types of MPSs, 28.5% suffered from other diseases, 32.9% were undiagnosed, 12.3% were apparently healthy, and 19 died. The negative predictive value of uGAG test in our study was 100%. About 21% of MPSs patients received enzyme replacement therapy, while four patients underwent stem cell transplants. The rest received supportive care. We concluded that a combination of DMMB and BST methods has acceptable sensitivity for screening suspicious MPS patients.","PeriodicalId":41283,"journal":{"name":"Journal of Child Science","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45129120","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