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Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures

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Neural Regeneration Research 2025年第1期20卷 265-276页

作者： Yao Yuan Lingqi Yu Xudong Zhuang Dongjing Wen Jin He Jingmei Hong Jiayu Xie Shengan Ling Xiaoyue Du Wenfeng Chen Xinrui Wang Institute of Life Sciences College of Biological Science and EngineeringFuzhou UniversityFuzhouFujian ProvinceChina NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non-human Primate(Fujian Maternity and child health Hospital) FuzhouFujian ProvinceChina Medical Research Center Fujian Maternity and Child Health HospitalCollege of Clinical Medicine for Obstetrics&Gynecology and PediatricsFujian Medical UniversityFuzhouFujian ProvinceChina Department of Neurology and Institute of Neurology of The First Affiliated Hospital Institute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian ProvinceChina

Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory *** develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause *** located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)*** addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive *** these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut *** found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in *** heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal *** Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.

关键词： ATP1A1 Atpα bang-sensitive paralysis Charcot-Marie-Tooth disease type 2 CRISPR/Cas9 homology-directed repair Na^(+)/K^(+)-ATPase point mutation seizures sodium pump

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Sleep deprivation and associated factors among students of the Institute of health in Jimma University, Southwest Ethiopia

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Frontiers of nursing 2021年第3期8卷 303-311页

作者： Bayisa Bereka Negussie Mamo Solomon Emeria Ebrahim Yimam Reta Bisrat Zeleke Shiferaw pediatrics and child health nursing School of Nursing and MidwiferyJimma UniversityJimma 378Ethiopia Adult health nursing Department of NursingWolkite UniversityWolkiteGurhage 07Ethiopia Adult health nursing School of Nursing and MidwiferyJimma UniversityJimma 378Ethiopia Maternity health nursing Department of NursingWolkitie UniversityWolkitieGurhage 07Ethiopia

Objective:Despite getting sufficient sleep being one of the most important things that we can do to keep our body and mind healthy,sleep deprivation has become a major public health *** study aimed to determine the prevalence of sleep deprivation and its associated factors among students of the Institute of health in Jimma ***:An institution-based cross-sectional study was conducted from April 10 to April 24 in *** were collected from 365 randomly selected participants and analyzed using Statistical Package for the Social Sciences(SPSS;version 23).Multivariate logistic regression analysis was used to identify the factors associated with sleep *** level of significance was declared at a P-value ofhealth problems,substance utilization,long-time use of an electronic device,and low ***,a strategy and system should be established to limit substance use,enhance proper use of electronic devices,and create awareness on the impact of nonoptimal sleep.

关键词： Ethiopia Jimma University health students sleep deprivation

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Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease

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World Journal of Gastroenterology 2016年第41期22卷 9117-9126页

作者： Claudia Loganes Alessia Pin Samuele Naviglio Martina Girardelli Anna Monica Bianco Stefano Martelossi Alberto Tommasini Elisa Piscianz Department of Medicine Surgery and Health Sciences University of Trieste Department of pediatrics Institute for Maternal and Child Health IRCCS "Burlo Garofolo"

AIM To evaluate the inflammatory state in Crohn's disease(CD) patients and correlate it with genetic background and microbial *** By means of flow cytometry, production of tumor necrosis factor-alpha(TNF-α) was measured in peripheral blood monocytes from patients suffering from CD, ulcerative colitis(UC) and in healthy subjects after stimulation of the NOD2 and TLR pathways. CD patients were genotyped for the three most common NOD2 variants(R702W, G908 R and L1007Pfs*2) and basal production of TNF-α was correlated to NOD2 genotype. Also, production of TNF-α was correlated to plasmatic levels of LPS Binding Protein(LBP), soluble(s) CD14 and to the activity state of the *** The patients with CD were characterized by a significantly higher monocyte basal expression of TNF-αcompared with healthy subjects and UC patients, and after stimulation with Pam3CSK4(ligand of TLR2/1) and MDP-L18(ligand of NOD2) this difference was maintained, while other microbial stimuli(LPS, ligand of TLR4 and Poly I:C, ligand of TLR3) induced massive activation in CD monocytes as well as in UC and in healthy control cells. There was no significant difference in the production of TNF- α between patients who carried CD-associated heterozygous or homozygous variants in NOD2 and patients with wild type NOD2 genotype. Although serum LBP levels have been shown to correlate positively with the state of activity of the disease, TNF-α production did not show a clear correlation with either LBP or s CD14 levels in plasma. Moreover, no clear correlation was seen between TNF-α production and activity indices in either CD or *** Peripheral monocytes from CD express higher basal and stimulated TNF-α than controls, regardless of NOD2 genotype and without a clear correlation with disease activity.

关键词： Crohn’s disease Ulcerative colitis Tumor necrosis factor-α NOD2 variants Toll like receptors Dysbiosis Activity index LPS-binding protein

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Time to recovery from severe pneumonia and its predictors among pediatric patients admitted in Mizan-Tepi University Teaching Hospital,South West Ethiopia,2022

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Frontiers of nursing 2024年第3期11卷 343-353页

作者： Belete Fenta Kebede Aynalem Yetwale Hiwot Tsegaw Biyazin Tesfa Yalemtsehay Dagnaw Genie Nigatu Dessalegn Mulu Department of Midwifery College of Medicine and Health SciencesDebre Markos UniversityDebre Markos 269Ethiopia Department of Midwifery Woldiya UniversityWoldiyaEthiopia School of Midwifery Institute of HealthJimma UniversityJimma 378Ethiopia Department of pediatrics and child health nursing Debre Markos UniversityDebre Markos 269Ethiopia Department of pediatrics and child health nursing Injibara UniversityInjibaraEthiopia

Objective:Despite trials and programs for the prevention of childhood mortality due to pneumonia,Ethiopia is among the top five countries with the highest number of deaths due to *** the prevalence of pneumonia has increased in the abovementioned trials,little is known about the recovery time from severe pneumonia and its predictors in the study ***,this study aimed to assess the time to recovery from severe pneumonia and its predictors among pediatric patients admitted to Mizan-Tepi University Teaching Hospital,Ethiopia,in ***:A total of 591 children admitted for severe pneumonia were selected using simple random *** were entered into Epi-data version 4.***.2.1 and expor ted to STATA version 14 for analysis,and the assumptions of Cox propor tional hazard models and goodness of fit were assessed through Shoenfeld residual and Cox-Snell residual,*** and multivariable Cox regression models were used to identify the predictors of mor ***:This study revealed that 91.54%(95%confidence interval[CI]:89.00–93.53)of participants recovered with an incidence rate of 24.10(95%CI:22.15–26.21)per 100 person-day–*** hmedian recovery time of children was 4 days(95%CI:2–6).children who were not exclusively breastfed(AHR=1.3;95%CI:1.03–1.66),who had a history of inability to suck/feed(AHR=0.81;95%CI:0.65–0.99)were independent predictors of the time to ***:children with severe pneumonia who had not exclusively breastfed and who had a history of inability to suck/feed were independent predictors of time to ***,all stakeholders and concerned health care providers should focus more on early diagnosis and management and hasten early recovery based on the identified factors.

关键词： Mizan-Tepi University Teaching Hospital pediatric patients predictors severe pneumonia Southwest Ethiopia time to recovery

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Clinical analysis of 114 cases of bronchiolitis in infants

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World Journal of Clinical Cases 2023年第35期11卷 8284-8290页

作者： Cheng Shi Meng-Hua Wu An Zuo Mi-Mi Yang Rong-Rong Jiang Department of pediatrics Tongling Maternal and Child Health HospitalTongling 244000Anhui ProvinceChina

BACKGROUND Bronchiolitis is a common lower respiratory tract infection in infants and young *** cases may be accompanied by obvious dyspnea and oxygen saturation *** To summarize the clinical features,standard diagnosis,and treatment of *** This is a retrospective analysis of 114 pediatric patients(74 males,40 females)who were first diagnosed as having bronchioles at the Department of pediatrics of Tongling Maternal and child health Hospital from January 2019 to December *** clinical features,imaging features,treatment,and other clinical data were recorded and *** The age of onset of the disease was mainly from 1 mo to 6 mo(75.4%),and the time to hospital visit was mostly from the 2nd day to the 4th day of the course of the disease(75.4%).Lung imaging examination showed increase in lung texture,fuzzy(93.8%).The main treatment was atomization therapy:Budesonide combined with terbutaline(45.6%)and budesonide combined with salbutamol(38.5%).The average hospitalization time was 7.1±2.4 d,and the overall cure rate was 94.7%.In patients without bacterial infection,the use of antibiotics significantly prolonged the length of hospital stay(7.8±2.5 d vs 5.7±1.8 d)and improved the cure rate(98.3%vs 87.9%,Pchildren and the age onset is between 1 to 6 *** standard use of antibiotics should be emphasized in view of the prolonged average length of hospital stay between the antibiotic treatment group and the non-antibiotic treatment *** the course of disease is more than 7 d or the treatment effect is poor,active anti-infective treatment is

关键词： Bronchiolitis Diagnosis Treatment Infants Antibiotics Retrospective analysis

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Diagnosis of pervasive developmental disorders:when and how?An area-based study about health care providers

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World Journal of pediatrics 2015年第1期11卷 48-53页

作者： Silvia Manea Laura VisonàDalla Pozza Monica Mazzucato Oliviana Gelasio Paola Facchin Veneto Region child&Mother health Observatory Epidemiology and Community Medicine UnitDepartment of PediatricsPadua University

Background:Pervasive developmental disorders(PDDs)can be very difficult to diagnose in children and to communicate such a diagnosis to their *** of children with PDD learn of their child's diagnosis long after the first symptoms are noted in the child's ***:An area-based survey was conducted to assess all social and health care providers taking care of patients with PDDs in the Veneto Region(North-East Italy).Results:Only 28%of health care providers arrived at a definite diagnosis when the child was in his/her first year of age,51%when the child was 2-3 years old and 21%from age of 4 years and *** average,the latency between the time of the diagnosis and its communication to the family was 6.9 ***,a number of families did not ever have a diagnosis communicated to ***,68%of the providers did not communicate a PDDs diagnosis to patient's families,and 4%of them quite ***:The well-known delay in making a diagnosis of PDDs has two distinct components:one relating to the difficulty of confirming a diagnosis of PDDs,the other,hitherto unrecognized,relating to the family being notified.

关键词： autism,pervasive development disorders classification system communication diagnosis

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Cardiovascular involvement in multisystem inflammatory syndrome in children and midterm follow-up from a pediatric tertiary center in India

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World Journal of Clinical pediatrics 2025年第1期14卷 127-138页

作者： Poovazhagi Varadarajan Ritchie Sharon Solomon Seenivasan Subramani Ramesh Subramanian Gomathy Srividya Elilarasi Raghunathan Department of Pediatric Intensive Care Institute of Child Health and Hospital for ChildrenMadras Medical CollegeChennai 600003Tamil NāduIndia Department of Pediatric Cardiology Institute of Child Health and Hospital for ChildrenMadras Medical CollegeChennai 600003Tamil NāduIndia Department of pediatrics Institute of Child Health and Hospital for ChildrenMadras Medical CollegeChennai 600003Tamil NāduIndia

BACKGROUND In multisystem inflammatory syndrome in children(MIS-C)with coronavirus disease 2019,there was paucity of data from low-income and middle-income countries on cardiovascular involvement and its longitudinal *** planned to estimate the pattern of cardiovascular involvement among children with MIS-C and its mid-term *** To determine association between cardiovascular abnormalities and clinical and laboratory *** study the time-line for resolution of various *** In this prospective study done in a tertiary care hospital,270 were recruited from June 2020 to January *** demographic data and clinical presentation were *** parameters and echocardiography were done at ***-up was done at 2 weeks,3 months,6 months and 1 year after *** statistics were used for parametric and non-parametric *** factors were identified by multivariate regression *** The 211(78.2%)had cardiac involvement and 102 needed intensive care unit(ICU)*** abnormalities observed were shock 123(45.6%),coronary dilatation 28(10.4%),coronary aneurysm 77(28.5%),left ventricular(LV)dysfunction 78(29.3%),mitral regurgitation(MR)77(28.5%)and pericardial effusion 98(36.3%).Coronary artery aneurysm/dilatation during follow-up at 2 weeks and 1 year were 25.7%and 0.9%*** regression analysis revealed breathlessness[odds ratio(OR)=3.91,95%CI:1.25-12.21,P=0.019]and hi-flow nasal cannula(HFNC)support(OR=8.5,95%CI:1.06-68.38,P=0.044)as predictors of cardiovascular *** mean age(OR=1.16,95%CI:1.02-1.32,P=0.026),breathlessness(OR=4.99,95%CI:2.05-12.20,P<0.001),gallop(OR=4.45,95%CI:0.41-2.52,P=0.016),MR(OR=3.61,95%CI:1.53-8.53,P=0.004)and invasive ventilation(OR=4.01,95%CI:1.28-12.58,P=0.017)were predictive of LV *** sensorium(OR=4.96,95%CI:2.23-11.02,P<0.001),headache(OR=6.61,95%CI:1.46-29.92,P=0.014),HFNC(OR=7.03,95%CI:2.0

关键词： Multisystem inflammatory syndrome in children Cardiovascular Midterm follow-up Coronary artery aneurysm Shock Left ventricular dysfunction

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Family empowerment and associated factors in Japanese families raising a child with severe motor and intellectual disabilities

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International Journal of nursing Sciences 2018年第4期5卷 370-376页

作者： Rie Wakimizu Hiroshi Fujioka Kaori Nishigaki Akemi Matsuzawa Department of child healthcare nursing Division of Health Innovation and NursingFaculty of MedicineUniversity of TsukubaIbarakiJapan Department of nursing Faculty of Health SciencesIbaraki Prefectural University of Health SciencesIbarakiJapan Department of child health nursing Graduate School of Nursing SciencesSt.Luke's International UniversityTokyoJapan Department of nursing Ibaraki Christian UniversityIbarakiJapan

Objectives:Family caregivers raising children with severe motor and intellectual disabilities(SMID)experience the enormous burden of *** concept of family empowerment is one of the important assessment indexes of family nursing from the perspective of providing comprehensive support for these *** objective of this study was to identify the factors associated with the empowerment of families raising a child with SMID in ***:We conducted a nationwide questionnaire survey involving 1659 primary caregivers raising a child with SMID through 89 special *** assessed the main outcomes using the Family Empowerment Scale(FES).We then conducted a multiple linear regression analysis to reveal the factors associated with family ***:In total,1362 primary caregivers were included in our *** results show that factors contributing to high FES scores are higher age of the primary caregiver,higher education,greater recognition of regional support,lower childcare burden,higher utilization of home visit services,higher usage of a childcare institution,higher household income,and stronger family ***:healthcare professionals should carefully assess the state of family empowerment of the primary caregivers who are younger and those who have low education,low household income,high childcare burden,and fragile bonding with the ***,they should encourage such families to use regional support resources for *** is,policy makers should consider ways to promote home visits and institutional services for the care of children with SMID,aiming especially for the provision of well-coordinated care and services.

关键词： Caregivers child care Disabled children Family empowerment Home nursing Intellectual disability Japan Social supports

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Clinical and electroencephalogram characteristics and treatment outcomes in children with benign epilepsy and centrotemporal spikes

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World Journal of Clinical Cases 2021年第33期9卷 10116-10125页

作者： Rui-Hua Chen Bing-Fei Li Jian-Hua Wen Chun-Lan Zhong Ming-Ming Ji Department of children’s Neurology Ganzhou Maternal and Child Health HospitalGanzhou 341000Jiangxi ProvinceChina Department of pediatrics Ganzhou Maternal and Child Health HospitalGanzhou 341000Jiangxi ProvinceChina Department of pediatrics Ningdu County People's HospitalGanzhou 341000Jiangxi ProvinceChina

BACKGROUND Epilepsy is a syndrome characterized by transient,rigid,paroxysmal,and repetitive central nervous system ***,control,and improvement of cognitive and behavioral dysfunction are of great significance for improving the patients’intellectual development and quality of ***(EEG)can predict an accelerated decline in cognitive *** To determine the clinical and EEG characteristics and treatment results of benign epilepsy in spiking *** A total of 106 cases of benign epilepsy in children with myocardial spines treated at our hospital from January 2017 to January 2020 were *** in clinical data and EGG characteristics between treatment-effective/-ineffective patients were analyzed,and children’s intellectual development before and after treatment evaluated using the Gesell Development Diagnostic *** EEG showed that the discharge proportion in the awake and sleep periods was 66.04%,and the peak/peak discharge was mainly single-sided,accounting for 81.13%,while the discharge generalization accounted for 31.13%.There was no significant difference in any of these variables between sexes and ages(P>0.05).The proportion of patients with early onset(3 times/half a year was 40.00%and 60.00%,respectively;the incidence rate and seizure frequency in the younger age group(0.05).Logistic regression analysis showed that low age onset(children(odds ratio=11.304 and 5.784,respectively;P<0.05).The discharge index

关键词： Centrotemporal spikes Benign epilepsy children Electroencephalogram Therapeutic effect

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Relationship between postoperative rehabilitation style, gastrointestinal function, and inflammatory factor levels in children with intussusception

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World Journal of Gastrointestinal Surgery 2024年第8期16卷 2640-2648页

作者： Xue-Yan Wei Hong-Chang Huo Xin Li Su-Li Sun Jun Zhang Department of Outpatient Shijiazhuang Maternal and Child Health HospitalShijiazhuang 050090Hebei ProvinceChina Department of Pediatric Surgery Shijiazhuang Maternal and Child Health HospitalShijiazhuang 050090Hebei ProvinceChina Department of nursing Shijiazhuang Maternal and Child Health HospitalShijiazhuang 050090Hebei ProvinceChina

BACKGROUND Intussusception occurs in children and progresses *** not treated in time,it may lead to secondary complications such as intestinal perforation,which affect the quality of life and health of *** is the most common clinical treatment and has a good ***,the postoperative prognosis of children with intussusception has a correlation with the postoperative rehabilitation ***,in this study,we explored the relationship between postopera-tive rehabilitation,gastrointestinal function,and the expression of inflammatory factors in children with *** medical records of 18 children who were admitted to our hospital for intussusception surgery between October 2022 and May 2024 were retrospectively *** patients were divided into the routine nursing group(n=6)and rehabilitation training group(n=12)according to the postoperative rehabilitation *** general data,gastrointestinal function,and inflammatory factor levels of the two groups were statistically *** correlation analysis of gastrointestinal function,inflammatory factors,and postoperative rehabil-itation was *** We found no significant intergroup differences in sex,age,or disease course(P>0.05).The times to first defecation,bowel sound recovery,and anal exhaust were shorter and inflammatory factor levels were lower in the rehabilitation training group than in the routine nursing group(P<0.05).Pearson correlation analysis showed that gastrin and motilin levels were positively correlated with postoperative rehabilitation(P<0.05).Interleukin(IL)-2,IL-4,IL-6,IL-10,high-sensitivity C-reactive protein,and tumor necrosis factor-αlevels were negatively correlated with postoperative rehabilitation(P<0.05).Gastrointestinal function was positively correlated(P<0.05),and levels of inflammatory factors were negatively correlated with postoperative recovery time(P<0.05).CONCLUSION We found a positive correlation between gastrointe

关键词： children with intussusception Postoperative rehabilitation mode Gastrointestinal function Inflammatory factors

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