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Identification of breath volatile organic compounds to distinguish pancreatic adenocarcinoma,pancreatic cystic neoplasm,and patients without pancreatic lesions

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World Journal of Gastrointestinal Oncology 2024年第3期16卷 894-906页

作者： Kasenee Tiankanon Nuttanit Pungpipattrakul Thanikan Sukaram Roongruedee Chaiteerakij Rungsun Rerknimitr Division of gastroenterology Faculty of MedicineChulalongkorn UniversityBangkok 10330Thailand center of excellence for Innovation and Endoscopy in Gastrointestinal Oncology King Chulalongkorn Memorial HospitalThai Red Cross SocietyBangkok 10330Thailand

BACKGROUND Volatile organic compounds(VOCs)are a promising potential biomarker that may be able to identify the presence of *** To identify exhaled breath VOCs that distinguish pancreatic ductal adenocar-cinoma(PDAC)from intraductal papillary mucinous neoplasm(IPMN)and healthy *** We collected exhaled breath from histologically proven PDAC patients,radiological diagnosis IPMN,and healthy volunteers using the ReCIVA®device between 10/2021-11/*** were identified by thermal desorption-gas chromatography/field-asymmetric ion mobility spectrometry and compared between *** A total of 156 participants(44%male,mean age 62.6±10.6)were enrolled(54 PDAC,42 IPMN,and 60 controls).Among the nine VOCs identified,two VOCs that showed differences between groups were dimethyl sulfide[0.73 vs 0.74 vs 0.94 arbitrary units(AU),respectively;P=0.008]and acetone dimers(3.95 vs 4.49 vs 5.19 AU,respectively;P<0.001).After adjusting for the imbalance parameters,PDAC showed higher dimethyl sulfide levels than the control and IPMN groups,with adjusted odds ratio(aOR)of 6.98(95%CI:1.15-42.17)and 4.56(1.03-20.20),respectively(P<0.05 both).Acetone dimer levels were also higher in PDAC compared to controls and IPMN(aOR:5.12(1.80-14.57)and aOR:3.35(1.47-7.63),respectively(P<0.05 both).Acetone dimer,but not dimethyl sulfide,performed better than CA19-9 in PDAC diagnosis(AUROC 0.910 vs 0.796).The AUROC of acetone dimer increased to 0.936 when combined with CA19-9,which was better than CA19-9 alone(P<0.05).CONCLUSION Dimethyl sulfide and acetone dimer are VOCs that potentially distinguish PDAC from IPMN and healthy *** prospective studies are required to validate these findings.

关键词： Volatile organic compound Pancreas Adenocarcinoma Pancreatic intraductal neoplasms Breathing

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Diseases of bile duct in children

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World Journal of gastroenterology 2024年第9期30卷 1043-1072页

作者： Sutha Eiamkulbutr Chomchanat Tubjareon Anapat Sanpavat Teerasak Phewplung Nimmita Srisan Palittiya Sintusek Department of pediatrics King Chulalongkorn Memorial HospitalBangkok 10330Thailand Department of pediatrics Faculty of MedicineChulalongkorn University and King Chulalongkorn Memorial HospitalBangkok 10330Thailand Department of Pathology Chulalongkorn UniversityBangkok 10330Thailand Department of Radiology Chulalongkorn UniversityBangkok 10330Thailand Department of Surgery Faculty of MedicineChulalongkorn University and King Chulalongkorn Memorial HospitalBangkok 10330Thailand center of excellence in thai pediatric gastroenterology Hepatology and ImmunologyDivision of GastroenterologyDepartment of PediatricsKing Chulalongkorn Memorial HospitalChulalongkorn UniversityBangkok 10330Thailand

Several diseases originate from bile duct *** studies on these diseases,certain etiologies of some of them still cannot be *** most common disease of the bile duct in newborns is biliary atresia,whose prognosis varies according to the age of surgical *** diseases such as Alagille syndrome,inspissated bile duct syndrome,and choledochal cysts are also time-sensitive because they can cause severe liver damage due to *** majority of these diseases present with cholestatic jaundice in the newborn or infant period,which is quite difficult to differentiate regarding clinical acumen and initial *** cholangiography is potentially necessary to make an accurate diagnosis,and further treatment will be performed synchronously or planned as findings *** article provides a concise review of bile duct diseases,with interesting cases.

关键词： Bile duct Cholestasis Biliary atresia Biliary hypoplasia Biliary imaging Inspissated bile syndrome Choledochal cyst

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A novel structural variant of RET causes familial Hirschsprung's disease via nonsense-mediated mRNA decay

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Genes & Diseases 2024年第1期11卷 7-10页

作者： Qi Wang Siyu Pu Bo Xiang Jing Chen Department of pediatric Surgery and Laboratory of pediatric Surgery Rare Diseases CenterInstitute of Immunology and InflammationFrontiers Science Center for Disease-Related Molecular NetworkWest China HospitalSichuan UniversityChengduSichuan 610041China

Hirschsprung's disease(HsCR)is the most common type of developmental gastrointestinal malformation causing intestinal obstruction in children,with an incidence of 1/5000 in live births.1 it is characterized by the absence of intrinsic ganglion cells in the myenteric and submucosal plexuses of the distal gastrointestinal tract,leading to the dysregulation of smooth muscle contraction/relaxation and resulting in intestinal *** on the length of the aganglionic intestine,HSCR can be categorized into short-segmental HSCR(S-HSCR),which affects up to the sigmoid colon from the anus,and long-segmental HSCR(LHSCR),which affects beyond the sigmoid colon.1 In some rare conditions,aganglionic lesions can affect the full length of the colon or even the whole intestine.

关键词： intestine colon relaxation

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Upper gastrointestinal bleeding in Bangladeshi children:Analysis of 100 cases

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World Journal of Gastrointestinal Endoscopy 2024年第1期16卷 44-50页

作者： Md Wahiduzzaman Mazumder Md Benzamin Department of pediatric gastroenterology and Nutrition Bangabandhu Sheikh Mujib Medical UniversityDhaka 1000Bangladesh Department of pediatric gastroenterology and Nutrition Sylhet M A G Osmani Medical College HospitalSylhet 3100Bangladesh

BACKGROUND Upper gastrointestinal bleeding(UGIB)is defined as bleeding that occurs proximal to the ligament of Treitz and can sometimes lead to potentially serious and life-threatening clinical situations in ***,the cause of UGIB differs significantly depending on the geographic location,patient population and presence of comorbid *** To observe endoscopic findings of UGIB in children at a tertiary care center of *** This retrospective study was carried out in the department of pediatric gastroenterology and Nutrition of Bangabandhu Shiekh Mujib Medical University,a tertiary care hospital of Bangladesh,between January 2017 and January *** collected from hospital records of 100 children who were 16 years of age or younger,came with hematemesis,melena or both hematemesis and *** patients underwent upper gastrointestinal endoscopy(Olympus CV 1000 upper gastrointestinal video endoscope)after initial *** investigations to diagnose portal hypertension and chronic liver disease with underlying causes for management purposes were also *** A total of 100 patients were *** was common in the age group 5-10 years(42%),followed by above 10 years(37%).Hematemesis was the most common presenting symptom(75%)followed by both hematemesis and melena(25%).UGIB from ruptured esophageal varices was the most common cause(65%)on UGI endoscopy followed by gastric erosion(5%)and prolapsed gastropathy(2%).We observed that 23%of children were normal after endoscopic *** Ruptured esophageal varices were the most common cause of UGIB in children in *** causes included gastric erosions and prolapsed gastropathy syndrome.

关键词： Bangladeshi Children Endoscopy Upper gastrointestinal bleeding Esophageal varices

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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of pediatric gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Prevalence and risk factors for impaired renal function among Asian patients with nonalcoholic fatty liver disease

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Hepatobiliary & Pancreatic Diseases International 2024年第3期23卷 241-248页

作者： Chao Sun George Boon-Bee Goh Wan-Cheng Chow Wah-Kheong Chan Grace Lai-Hung Wong Wai-Kay Seto Yi-Hsiang Huang Han-Chieh Lin I-Cheng Lee Hye Won Lee Seung Up Kim Vincent Wai-Sun Wong Jian-Gao Fan center for Fatty Liver Disease Department of GastroenterologyXinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai Key Lab of Pediatric Gastroenterology and NutritionShanghai 200092China Department of gastroenterology&Hepatology Singapore General HospitalSingaporeSingapore gastroenterology and Hepatology Unit Department of MedicineFaculty of MedicineUniversity of MalayaKuala LumpurMalaysia Department of Medicine and Therapeutics and State Key Laboratory of Digestive Disease The Chinese University of Hong KongHong KongChina Department of Medicine The University of Hong KongHong KongChina Institute of Clinical Medicine National Yang Ming Chiao Tung University School of MedicineTaipeiTaiwanChina Division of gastroenterology and Hepatology Taipei Veterans General HospitalTaipeiTaiwanChina Faculty of Medicine National Yang Ming Chiao Tung University School of MedicineTaipeiTaiwanChina Department of Internal Medicine Yonsei University College of MedicineSeoulKorea

Background:Nonalcoholic fatty liver disease(NAFLD)is associated with impaired renal function,and both diseases often occur alongside other metabolic ***,the prevalence and risk factors for impaired renal function in patients with NAFLD remain *** objective of this study was to identify the prevalence and risk factors for renal impairment in NAFLD ***:All adults aged 18-70 years with ultrasound-diagnosed NAFLD and transient elastography examination from eight Asian centers were enrolled in this prospective *** fibrosis and cirrhosis were assessed by FibroScan-aspartate aminotransferase(FAST),Agile 3+and Agile 4 *** renal function and chronic kidney disease(CKD)were defined by an estimated glomerular filtration rate(eGFR)with value of<90 mL/min/1.73 m^(2) and<60 mL/min/1.73 m^(2),respectively,as estimated by the CKD-Epidemiology Collaboration(CKD-EPI)***:Among 529 included NAFLD patients,the prevalence rates of impaired renal function and CKD were 37.4%and 4.9%,*** multivariate analysis,a moderate-high risk of advanced liver fibrosis and cirrhosis according to Agile 3+and Agile 4 scores were independent risk factors for CKD(P<0.05).Furthermore,increased fasting plasma glucose(FPG)and blood pressure were significantly associated with impaired renal function after controlling for the other components of metabolic syndrome(P<0.05).Compared with patients with normoglycemia,those with prediabetes[FPG≥5.6 mmol/L or hemoglobin A1c(HbA1c)≥5.7%]were more likely to have impaired renal function(P<0.05).Conclusions:Agile 3+and Agile 4 are reliable for identifying NAFLD patients with high risk of *** glycemic control in the prediabetic stage might have a potential renoprotective role in these patients.

关键词： Nonalcoholic fatty liver disease Impaired renal function Agile 3+ Agile 4 Metabolic syndrome

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Aberrant bile duct communicating with the cystic duct:From early detection to management of late surgical complications

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Hepatobiliary & Pancreatic Diseases International 2024年第4期23卷 412-416页

作者： Phonthep Angsuwatcharakon Pradermchai Kongkam Wiriyaporn Ridtitid Panida Piyachaturawat Phuphat Vongwattanakit Prooksa Ananchuensook Natee Faknak Kunvadee Vanduangden Rungsun Rerknimitr Department of Anatomy Faculty of MedicineChulalongkorn University and King Chulalongkorn Memorial HospitalBangkokThailand Division of gastroenterology Department of MedicineFaculty of MedicineChulalongkorn University and King Chulalongkorn Memorial HospitalBangkokThailand Department of Surgery Faculty of MedicineChulalongkorn University and King Chulalongkorn Memorial HospitalBangkokThailand center of excellence for Innovation and Endoscopy in Gastrointestinal Oncology Faculty of MedicineChulalongkorn UniversityBangkokThailand

The aberrant hepatic duct is classified by Huang et al.[1]into type A(right intrahepatic duct variant)and type B(left intrahepatic duct variant).Type A and B are further classified into 5(A1-5)and 6(B1-6)subtypes,*** variation of cystic duct involves only in type *** A1 or classic arrangement refers to the formation of the common hepatic duct(CHD)by the left hepatic duct(LHD)and the right hepatic duct(RHD).The RHD has two tributaries composed of the right anterior hepatic duct(RAHD)and the right posterior hepatic duct(RPHD).Then,the common bile duct(CBD)is formed when the cystic duct joins with the CHD(Fig.1).Type A2 refers to the RAHD and RPHD joining with LHD at hepatic hilum,and the absence of the *** A3 refers to the RAHD or RPHD directly draining to the *** A4 refers to the RAHD or RPHD directly draining to the *** A5 refers to the RAHD,RPHD or RHD directly draining to the cystic duct(or aberrant bile duct communicating with the cystic duct,ACC)(Fig.1)[1].

关键词： bile hepatic RPH

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Calcium/calcimimetic via calcium-sensing receptor ameliorates cholera toxin-induced secretory diarrhea in mice

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World Journal of gastroenterology 2024年第3期30卷 268-279页

作者： Lie-Qi Tang Johnathan Fraebel Shi Jin Steven P Winesett Jane Harrell Wen-Han Chang Sam Xianjun Cheng Department of pediatrics University of FloridaGainesvilleFL 32610United States College of Medicine University of FloridaGainesvilleFL 32610United States Applied Physiology and Kinesiology University of FloridaGainesvilleFL 32610United States Brain Rehabilitation Research center Malcom Randall VA Medical CenterGainesvilleFL 32610United States Department of Medicine Endocrine Research UnitVeterans Affairs Medical CenterUniversity of CaliforniaSan FranciscoSan FranciscoCA 94121United States Department of pediatric gastroenterology Hepatologyand NutritionUniversity of Florida Shands Children’s HospitalGainesvilleFL 32608United States

BACKGROUND Enterotoxins produce diarrhea through direct epithelial action and indirectly by activating the enteric nervous ***-sensing receptor(CaSR)inhibits both *** latter has been well documented in vitro but not in *** hypothesis to be tested was that activating CaSR inhibits diarrhea in *** To determine whether CaSR agonists ameliorate secretory diarrhea evoked by cholera toxin(CTX)in *** CTX was given orally to C57BL/6 mice to induce *** and calci-mimetic R568 were used to activate *** maximize their local intestinal actions,calcium was administered luminally via oral rehydration solution(ORS),whereas R568 was applied serosally using an intraperitoneal *** verify that their actions resulted from the intestine,effects were also examined on Cre-lox intestine-specific CaSR *** outcome was measured biochemically by monitoring changes in fecal Cl-or clinically by assessing stool consistency and weight *** CTX induced secretory diarrhea,as evidenced by increases in fecal Cl-,stool consistency,and weight loss following CTX exposure,but did not alter CaSR,neither in content nor in ***,calcium and R568 were each able to ameliorate diarrhea when applied to diseased *** CaSR involvement is suggested by gene knockout experiments where the anti-diarrheal actions of R568 were lost in intestinal epithelial CaSR knockouts(villinCre/Casrflox/flox)and neuronal CaSR knockouts(nestinCre/Casrflox/flox).CONCLUSION Treatment of acute secretory diarrheas remains a global *** advances in diarrhea research,few have been made in the realm of diarrhea *** therapy has remained the standard of care,although it does not halt the losses of intestinal fluid and ions caused by *** is no cost-effective therapeutic for *** and other studies suggest that adding calcium to ORS or using calcimimetics to activate intestinal CaSR might

关键词： Cholera Enteric nervous system Secretory diarrhea Oral rehydration solution Calcium-sensing receptor Gene knockout

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Improvement in Tol2 transposon for efficient large-cargo capacity transgene applications in cultured cells and zebrafish(Danio rerio)

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Zoological Research 2024年第3期45卷 567-574页

作者： Peng-Cheng Wang Hao Deng Rang Xu Jiu-Lin Du Rongkun Tao Department of pediatric Cardiology Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghai 200092China Institute of Neuroscience State Key Laboratory of NeuroscienceCenter for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai 200031China Medical School Kunming University of Science and TechnologyKunmingYunnan 650500China Scientific Research center Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghai 200092China University of Chinese Academy of Sciences Beijing 100049China School of Life Science and Technology ShanghaiTech UniversityShanghai 200031China

Most viruses and transposons serve as effective carriers for the introduction of foreign DNA up to 11 kb into vertebrate ***,their activity markedly diminishes with payloads exceeding 11 *** the payload capacity of transposons could facilitate more sophisticated cargo designs,improving the regulation of expression and minimizing mutagenic risks associated with molecular therapeutics,metabolic engineering,and transgenic animal *** this study,we improved the Tol2 transposon by increasing protein expression levels using a translational enhancer(QBI SP163,ST)and enhanced the nuclear targeting ability using the nuclear localization protein H2B(SHT).The modified Tol2 and ST transposon efficiently integrated large DNA cargos into human cell cultures(H1299),comparable to the well-established super PiggyBac ***,mRNA from ST and SHT showed a significant increase in transgene delivery efficiency of large DNA payloads(8 kb,14 kb,and 24 kb)into zebrafish(Danio rerio).This study presents a modified Tol2 transposon as an enhanced nonviral vector for the delivery of large DNA payloads in transgenic applications.

关键词： Zebrafish Tol2 transposase Transgene Large payload Synthetic biology

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Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma

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World Journal of pediatrics 2024年第5期20卷 481-495页

作者： Dimitra E.Zazara Olympia Giannou Steven Schepanski Mirja Pagenkemper Anastasios D.Giannou Maike Pincus Ioannis Belios Stefan Bonn Ania C.Muntau Kurt Hecher Anke Diemert Petra Clara Arck Division for Experimental Feto-Maternal Medicine Department of Obstetrics and Fetal MedicineUniversity Medical Center Hamburg-Eppendorf(UKE)Martinistraße 5220251HamburgGermany University Children’s Hospital UKEHamburgGermany Computer Engineering and Informatics Department Polytechnic SchoolUniversity of PatrasPatrasGreece Institute of Developmental Neurophysiology Center for Molecular Neurobiology Hamburg(ZMNH)UKEHamburgGermany Department of Obstetrics and Fetal Medicine UKEHamburgGermany Department of General Visceral and Thoracic SurgeryUKEHamburgGermany Section of Molecular Immunology and gastroenterology Ⅰ.Department of MedicineUKEHamburgGermany pediatrics and pediatric Pneumology Practice BerlinGermany Institute of Medical Systems Biology ZMNHUKEHamburgGermany Hamburg center for Translational Immunology UKEHamburgGermany

Background Early-life respiratory infections and asthma are major health burdens during *** predicting an increased risk for early-life respiratory diseases are ***,we identified the predictive value of ultrasound-monitored fetal lung growth for the risk of early-life respiratory infections and *** Fetal lung size was serially assessed at standardized time points by transabdominal ultrasound in pregnant women participating in a pregnancy *** between fetal lung growth and respiratory infections in infancy or early-onset asthma at five years were ***-learning models relying on extreme gradient boosting regressor or classifier algorithms were developed to predict respiratory infection or asthma risk based on fetal lung *** model development and validation,study participants were randomly divided into a training and a testing group,respectively,by the employed *** Enhanced fetal lung growth throughout pregnancy predicted a lower early-life respiratory infection *** sex was associated with a higher risk for respiratory infections in *** lung growth could also predict the risk of asthma at five years of *** designed three machine-learning models to predict the risk and number of infections in infancy as well as the risk of early-onset *** models’R2 values were 0.92,0.90 and 0.93,respectively,underscoring a high accuracy and agreement between the actual and predicted *** variables included known risk factors and novel predictors,such as ultrasound-monitored fetal lung *** Sonographic monitoring of fetal lung growth allows to predict the risk for early-life respiratory infections and asthma.

关键词： Asthma Child risk Early-life respiratory infections Prenatal lung development Sexual dimorphism

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