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Type II Abernethy malformation with cystic fibrosis in a 12-year-old girl:A case report

World Journal of Clinical Cases 2023年第32期11卷 7865-7871页

作者： Li-Jie Zhang Xing-Yu Liu Teng-Fei Chen Zhong-Ya Xu Han-Jun Yin Xuzhou Medical University Xuzhou 221000Jiangsu ProvinceChina Department of Pediatric Surgery The First Affiliated Hospital of Bengbu Medical CollegeBengbu 233000Anhui ProvinceChina Department of General Surgery Nanjing Drum Tower Hospital Group Suqian HospitalSuqian 223800Jiangsu ProvinceChina Department of Pediatric Surgery Children's Hospital of Nanjing Medical UniversityNanjing 210000China Department of Pediatrics Nanjing Drum Tower Hospital Group Suqian HospitalSuqian 223800Jiangsu ProvinceChina

BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous *** fibrosis(CF)is an autosomal recessive genetic disease caused by mutations in the CFTR *** mainly affects the exocrine glands of the respiratory,digestive and reproductive *** is considered extremely rare in the Asian *** present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and *** SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis,and chest computed tomography(CT)showed *** exome sequencing was performed for the patient,yielding findings that revealed a compound heterozygous variant of the CFTR gene:c.233_c.234insT/***79fsTer3(maternal origin);c.2909G>A/***970Asp(paternal origin).CF was *** physician’s attention was drawn to the presence of splenomegaly during disease *** enhanced CT revealed splenomegaly,compression of the left kidney,and multiple tortuous dilated vascular shadows were seen at the splenic hilum,which flowed back into the left renal vein and portal vein,suggesting Abernethy malformation type ***,the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing,and the pathology of liver biopsy showed hypoplastic,dilated or absent portal vein branches,both of which supported the diagnosis of Abernethy malformation type *** represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of *** Coexisting Abernethy malformation and CF are *** medical history information,abdominal enhanced CT,venography and genetic testing contribute to diagnosis as well as differential diagnosis.

关键词： Abernethy malformation cystic fibrosis CFTR gene Case report

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Pre-Lung transplant reflux testing demonstrates high prevalence of gastroesophageal reflux in cystic fibrosis and reduces chronic rejection risk

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World Journal of Transplantation 2023年第4期13卷 138-146页

作者： Wai-Kit Lo Ryan Flanagan Nirmal Sharma Hilary J Goldberg Walter W Chan Division of Gastroenterology Hepatology and EndoscopyBrigham and Women's HospitalHarvard Medical SchoolBostonMA Division of Pulmonary and Critical Care Medicine Brigham and Women's HospitalHarvard Medical SchoolBostonMA 02115United States

BACKGROUND Gastroesophageal reflux(GER)has been associated with poor outcomes after lung transplantation for chronic lung disease,including increased risk of chronic *** is common in cystic fibrosis(CF),but factors influencing the likelihood of pre-transplant pH testing,and the impact of testing on clinical management and transplant outcomes in patients with CF are *** To evaluate the role of pre-transplant reflux testing in the evaluation of lung transplant candidates with *** This was a retrospective study from 2007-2019 at a tertiary medical center that included all patients with CF undergoing lung *** with pretransplant anti-reflux surgery were *** characteristics(age at transplantation,gender,race,body mass index),self-reported GER symptoms prior to transplantation,and pre-transplant cardiopulmonary testing results,were *** testing consisted of either 24-h pH-or combined multichannel intraluminal impedance and pH ***-transplant care included a standard immunosuppressive regimen,and regular surveillance bronchoscopy and pulmonary spirometry in accordance with institutional practice as well as in symptomatic *** primary outcome of chronic lung allograft dysfunction(CLAD)was defined clinically and histologically per International Society of Heart and Lung Transplantation *** analysis was performed with Fisher’s exact test to assess differences between cohorts,and time-to-event Cox proportional hazards *** After applying inclusion and exclusion criteria,a total of 60 patients were included in the *** all CF patients,41(68.3%)completed reflux monitoring as part of pre-lung transplant *** evidence of pathologic reflux,defined as acid exposure time>4%,was found in 24 subjects,representing 58%of the tested *** patients with pre-transplant reflux testing were older(35.8 vs 30.1 years,P=0.01)and more commonly reported typical

关键词： cystic fibrosis Gastroesophageal reflux Lung transplantation pH monitoring

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Bicarbonate Effects on Antibacterial Immunity and Mucus Glycobiology in the cystic fibrosis Lung:A Review With Selected Experimental Observations

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Infectious Microbes & Diseases 2022年第3期4卷 103-110页

作者： Ruth Siew Tzung-Lin Ou Samira Dahesh Kathryn Akong Victor Nizet Department of Pediatrics University of California San DiegoLa JollaCaliforniaUSA School of Medicine China Medical UniversityTaichungTaiwan Skaggs School of Pharmacy and Pharmaceutical Sciences University of California San DiegoLa JollaCaliforniaUSA

The primary defect in cystic fibrosis(CF)is abnormal chloride and bicarbonate transport in the CF transmembrane conductance regulator epithelial ion *** apical surface of the respiratory tract is lined by an airway surface liquid(ASL)layer composed of mucin comprising mainly MUC5A and MUC5B *** homeostasis depends on sodium bicarbonate secretion into the airways and secretion deficits alter mucus properties leading to airway obstruction,inflammation and *** effects of abnormal ion transport in the lungs include altered intrinsic immune *** observed that neutrophils killed Pseudomonas aeruginosa more efficiently when it had been exposed to sodium bicarbonate,and formation of neutrophil extracellular traps by neutrophils was augmented in the presence of increasing bicarbonate *** levels of bicarbonate sensitized *** to the antimicrobial peptide cathelicidin LL-37,which is present in both lung ASL and neutrophil extracellular *** bicarbonate has various uses in clinical medicine and in the care of CF patients and could be further explored as a therapeutic adjunct against Pseudomonas infections.

关键词： cystic fibrosis bicarbonate mucus pneumonia bacterial infection neutrophil cathelicidin neutrophil extracellular traps

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Lack of correlation between surface water area and infection with Pseudomonas aeruginosa and the non-tuberculous mycobacteria (NTMs) in patients with cystic fibrosis (CF)

Infectious Medicine

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Infectious Medicine 2024年第3期3卷 17-22页

作者： John E.Moore Beverley C.Millar Laboratory for Disinfection and Pathogen Elimination Studies Northern Ireland Public Health LaboratoryBelfast City HospitalLisburn RoadBelfast BT97ADNorthern IrelandUK School of Medicine Dentistry and Biomedical SciencesThe Wellcome-Wolfson Institute for Experimental MedicineQueen's University97 Lisburn RoadBelfast BT97BLNorthern IrelandUK Northern Ireland Regional Adult cystic fibrosis Centre Level 8Belfast City HospitalLisburn RoadBelfast BT97ABNorthern IrelandUK

Background People with cystic fibrosis(CF)may develop clinically significant chronic respiratory infections with Pseudomonas aeruginosa(PA)and non-tuberculous mycobacteria(NTM).Open water has been suggested to be an important source for continuous or intermittent exposure to these *** date,there has been a paucity of studies examining the relationship between chronic PA and NTM infection in CF patients and surfaces waters,including blue *** aim of this study was therefore to examine the relationship between chronic pulmonary infection with PA and NTMs in children and adults with CF in European countries and area of surface waters,including blue *** European CF registry data detailing incidence of chronic PA and NTM infection in adults and children with CF in Europe(n=41,486 in 24 European countries)was correlated with surface water area data from the same countries(approx.678,278 km2)employing Spearman *** Correlation of chronic PA infection in children and adults and surface water area were not significant(p=0.0680 and p=0.8448,respectively),as was NTM infection(p=0.7371 and p=0.0712,respectively).Conclusions Acquistion of PA and its avoidance in people with CF is a complicated dynamic,not solely driven by close association with surface water,but through the integration of several other factors,including mitigations by people with CF to avoid high risk scenarios with surface *** study was unable to demonstrate a correlation between PA and NTM infection in people with cystic fibrosis and surface water area at a national *** patients should continue to be vigilant about potential infection risks posed by water and take evidence-based decisions regarding their behaviour around water to protect them for acquiring these organisms from these sources.

关键词： Bluespaces cystic fibrosis Mycobacterium Non-tuberculous mycobacteria Pseudomonas aeruginosa Water

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Lumacaftor/ivacaftor therapy is associated with reduced hepatic steatosis in cystic fibrosis patients

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World Journal of Hepatology 2019年第12期11卷 761-772页

作者： Katherine Kutney Shannon B Donnola Chris A Flask Rose Gubitosi-Klug MaryAnn O’Riordan Kimberly McBennett Thomas J Sferra Beth Kaminski Department of Pediatric Endocrinology University Hospitals Cleveland Medical CenterClevelandOH 44106United States Department of Pediatrics Case Western Reserve UniversityClevelandOH 44106United States Department of Radiology Case Western Reserve University ClevelandOH 44106United States Department of Biomedical Engineering Case Western Reserve UniversityClevelandOH 44106United States

BACKGROUND Hepatic steatosis is a common form of cystic fibrosis associated liver disease(CFLD)seen in an estimated 15%-60%of patients with cystic fibrosis(CF).The pathophysiology and health implications of hepatic steatosis in cystic fibrosis remain largely *** the general population,hepatic steatosis is strongly associated with insulin resistance and type 2 *** fibrosis related diabetes(CFRD)impacts 40%-50%of CF adults and is characterized by both insulin insufficiency and insulin *** hypothesized that patients with CFRD would have higher levels of hepatic steatosis than cystic fibrosis patients without *** To determine whether CFRD is associated with hepatic steatosis and to explore the impact of lumacaftor/ivacaftor therapy on hepatic steatosis in *** Thirty patients with CF were recruited from a tertiary care medical center for this cross-sectional *** pancreatic insufficient patients with CFRD or normal glucose tolerance(NGT)were *** with established CFLD,end stage lung disease,or persistently elevated liver enzymes were *** magnetic resonance imaging(MRI)proton density fat fraction(PDFF)was obtained for all *** characteristics[age,sex,body mass index,percent predicted forced expiratory volume at 1 s(FEV1),lumacaftor/ivacaftor use]and blood chemistries were assessed for possible association with hepatic *** steatosis was defined as a mean MRI PDFF>5%.Patients were grouped by diabetes status(CFRD,NGT)and cystic fibrosis transmembrane conductance regulator(CFTR)modulator use(lumacaftor/ivacaftor,no lumacaftor/ivacaftor)to determine between group *** variables were analyzed with a Wilcoxon rank sum test and discrete variables with a Chi square test or Fisher’s exact *** Twenty subjects were included in the final *** median age was 22.3 years(11.3-39.0)and median FEV1 was 77%(33%-105%).Twelve subjects had CFRD and 8 had N

关键词： cystic fibrosis Liver disease Non-alcoholic fatty liver disease cystic fibrosis transmembrane conductance regulator Lumacaftor/ivacaftor cystic fibrosis transmembrane conductance regulator modulator Diabetes mellitus

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cystic fibrosis and the relevance of the whole-body vibration exercises in oscillating platforms: a short review

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Health 2011年第10期3卷 656-662页

作者： Adalgisa Ieda Maiworm Milena B.Monteiro Sebastiao D.Santos-Filho Agnaldo J.Lopes Leandro Azeredo Sotiris Missailidis Pedro J.Marin Mario Bernardo-Filho Hospital Universitario Pedro Ernesto Setor de FisioterapiaUniversidade do Estado do Rio de JaneiroRio de JaneiroBrazil Clinica de Fisioterapia e Biomedicina Rio de JaneiroBrazil Universidade do Estado do Rio de Janeiro Instituto de Biologia Roberto Alcantara GomesDepartamento de Biofisica e BiometriaRio de JaneiroBrazil Departamento de Pneumologia e Coordenacao do Centro de Referencia de Fibrose Cistica em Adultos do Estado do Rio de Janeiro Universidade do Estado do Rio de JaneiroRio de JaneiroBrazil Hospital da Policia Militar NiteroiBrazil The Open University Milton KeynesUK Laboratory of Physiology European University Miguel de CervantesValladolidSpain Research Center on Physical Disability ASPAYMCastilla y LeonSpain Coordenadoria de Pesquisa Instituto Nacional do CancerINCaRio de Janeiro Brazil.

Objective: The aim is to present a review about the whole-body vibration (WBV) exercises in the management of cystic fibrosis (CF). Methods: Computerized literature searches were performed using the PubMed databases. Results: A strong interest in studies, considering the number of publications, involving CF and lung was found. Although, the exercises and physical activities seem to have a high relevance in the management of the patients with CF, the number of publications involving these procedures is limited. Moreover, a modality of exercise involving WBV seems to be poorly utilized by the patients with CF and only two papers were found with positive actions. Conclusion: Oscillating platform is a promising technique to manage patients with CF. Moreover, as (i) the use of the oscillating platforms is inexpensive, (ii) the vibration exercise requires less technical abilities as compared to the performance of conventional resistance training and (iii) positive clinical findings have been noticed with the use of WBV in CF, it is suggested to implement the studies involving the application of the exercises with WBV in oscillating platforms to manage the patients with CF.

关键词： cystic fibrosis whole body vibration PubMed

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A novel CFTR mutation found in a Chinese patient with cystic fibrosis

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Chinese Medical Journal 2006年第2期119卷 103-109页

作者： LI Nan PEI Pei BU Ding-fang HE Bing WANG Guang-fa Department of Pulmonary Medicine Peking University First Hospital Beijing 100034 China Central Laboratory Peking University First Hospital Beijing 100034 China

Background cystic fibrosis （CF） is rare in Chinese. We investigated the mutations in the gene of cystic fibrosis transmembrane conductance regulator （CFTR） in a Chinese CF patient and reviewed the clinical features, gene mutations in Chinese CF cases. Methods Blood samples were collected from a previously reported CF girl and her parents. The 24 coding exons of CFTR of the proband were amplified and sequenced. Results A Chinese girl of 16 years old was diagnosed as CF at the age of 14. She had recurrent productive cough with bronchiectasis in bilateral upper lobes, parasinusitis and otitis media, but without pancreatic involvement. Her sweat chloride was （108.9 ±3.3） mmol/L. A heterozygous novel rnissense mutation of 699 C→ A which results in the amino acid change of N189K was identified in exon 5. In addition, a heterozygous 3821-3823 delT mutation in exon 19 was found in CFTR. The mutation 699C→A was inherited from her father, and the 3821-3823delT mutation was from her mother. Twenty patients with CF in Chinese reported from 1974 to 2004 were also reviewed. DelF508 mutation was not found in the nine cases whose CFTR mutations were analyzed. Conclusions The CF proband carries two heterozygous mutations （699C→A and 3821-3823delT） in CFTR. 699C→A mutation is a novel mutation which is not reported previously. Review of reported Chinese cases suggests that the genotype of Chinese CF may be different from those of white cases. More studies are needed to understand the spectra of CFTR and clinical CF features in Chinese.

关键词： cystic fibrosis transmembrane conductance regulator gene mutation

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Physical activity and exercise training in young people with cystic fibrosis:Current recommendations and evidence

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Journal of Sport and Health Science 2013年第1期2卷 39-46页

作者： Craig A. Williams Daniel Stevens Children's Health and Exercise Research Centre Sport and Health Sciences University of Exeter EX1 2LU Devon UK School of Physiotherapy Faculty of Health Professions Dalhousie University Halifax NS B3H 4R2 Canada

Despite the acceptance of physical activity （PA） being integral to a young person＇s health, children with disability often exhibit low levels of PA. In young people with cystic fibrosis （CF） the importance of exercise and daily PA is acknowledged by clinicians and their support teams, however, there is a lack of knowledge related to its prescription. CF is a recessive genetic disorder affecting the lung, pancreas and sweat glands. CF is the most common life shortening genetic disease in the Caucasian population for which there is no cure. In the UK, CF affects over 9000 people, with 4000 under 16 years of age. Only about half of the CF population can expect to live beyond 40 years of age. Besides drug therapies, rehabilitative exercise programmes form an important component of treatment and long term exercise programmes are considered positive treatment strategies, but all lack any detailed prescriptive information. Several reviews and editorials have highlighted the lack of evidence based research in PA and exercise training in young people with CF; but advocate a greater need for understanding the role of exercise in therapeutic interventions. The purpose of this review is to update the reader on the current recommendations and evidence in PA and exercise training for young people with CE These developments have extended our understanding of PA and exercise training in children and adolescents with CF, and its implementation in the management of this chronic disease.

关键词： cystic fibrosis Exercise training Paediatrics Physical activity Young people

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Feasibility of performing the 3-minute step test with remote supervision in children and adolescents with cystic fibrosis: A comparative study

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Pediatric Investigation 2024年第2期8卷 83-90页

作者： Fernanda Maria Vendrusculo Gisele Apolinario da Costa Maria Amelia Bagatini Brenda Maria Henrique Maia Lemes Carolina Aguiar Faria Larissa Carvalhaes de Oliveira Evanirso da Silva Aquino Marcio Vinicius Fagundes Donadio Laboratory of Pediatric Physical Activity Infant CenterPontificia Universidade Catolica do Rio Grande do Sul(PUCRS)Porto AlegreBrazil Hospital Infantil Joao Paulo II-Fundacao Hospitalar do Estado de Minas Gerais(FHEMIG) Belo HorizonteBrazil Departament of Physiotherapy Pontificia Universidade Catolica de Minas Gerais(PUCMG)-Campus BetimBetimBrazil Department of Physiotherapy Faculty of Medicine and Health SciencesUniversitat Internacional de Catalunya(UIC)BarcelonaSpain

Importance:The 3-min step test is a simple option to monitor submaximal exercise capacity,although its use via remote video monitoring has not been investigated in children with cystic fibrosis(CF).Objective:This study aimed to assess the feasibility and reproducibility of performing the 3-min step test with remote ***:A cross-sectional study including CF patients(6-18 years)from two CF services were ***,anthropometric,clinical,and lung function data were collected and two 3-min step tests were performed:(i)in-person supervision,and(ii)remotely supervised by video *** and after the tests,heart rate(HR),oxygen saturation(SpO_(2)),and the Borg score for dyspnea and lower limb fatigue were ***:Twenty-three patients(10.7±3.7 years)with a mean FEV1 of 89.5%±23.2%were *** were no significant differences between tests,with mean differences(95%confidence intervals)in final HR of-3.3(-8.9,2.4),change in HR of-1.9(-6.1,2.1),final SpO_(2) of 0.3(-0.4,1.0),and final dyspnea of 0.1(-0.8,0.9).The intraclass correlation coefficient was 0.852(final HR),0.762(final SpO_(2)),and 0.775(final lower limb fatigue).Significant and moderate correlations were found between tests for final HR(r=0.75),change in HR(r=0.61),and final SpO_(2)(r=0.61).The Bland-Altman analysis showed a mean difference in final SpO_(2) between tests of 0.3%(limit of agreement-3.0%,3.5%).Interpretation:Physiological responses between tests were similar,indicating it was feasible to perform the 3-min step test with remote supervision in CF children.

关键词： Children cystic fibrosis Exercise test Telehealth

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HealthNet: Machine Learning for cystic fibrosis Characterization

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Journal of Biosciences and Medicines 2023年第9期11卷 158-170页

作者： Manasvi Pinnaka Eric Cheek Basis Independent Silicon Valley San Jose USA Department of Electrical and Computer Engineering University of Michigan Ann Arbor USA

cystic fibrosis patients often develop lung infections because of the presence of thick and sticky mucus that fills their airways. The presence of this thick mucus prevents the lungs from filtering out certain dominant bacterial types, making patients highly susceptible to infections that can range anywhere in severity from mild to life-threatening. These infections can cause great distress for patients as it becomes harder for patients to breathe and increases the chance of mortality by respiratory failure. It is important to be able to track the progression or regression of cystic fibrosis to determine the best course of treatment. Thus, this project focuses on the use of an AI model to examine the microbiology of cystic fibrosis patients and predict the condition or stage of lung function in the future, as a way to guide doctors with their treatment plan. Due to the limited amounts of publicly available patient data, we used all of the data in the training and testing of our machine learning algorithms initially and then tried a 50% training, 10% validation, and 40% testing split. Our results show that with relatively simple models (cubic polynomials), we can predict FEV1 from statistically significant bacteria sequences within 98% accuracy when training on sufficiently large samples.

关键词： cystic fibrosis Lung Microbiome Machine Learning

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