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Strategic insights of telehealth platforms and strengths,weaknesses,opportunities,and threats analysis of Amazon's clinical endeavors

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World Journal of Methodology 2025年第2期15卷 145-153页

作者： Harpreet Grewal Gagandeep Dhillon Venkata Buddhavarapu Ram Kishun Verma Ripudaman Singh Munjal Pranjal Sharma Gurmanpreet Sidhu Rahul Kashyap Salim Surani department of Radiology Ascension Sacred Heart HospitalPensacolaFL 32503United States department of medicine UM Baltimore Washington Medical CenterGlen BurnieMD 21061United States department of medicine Banner Baywood Medical CenterBanner HealthMesaAZ 85206United States department of Sleep medicine Parkview Health SystemFort WayneIN 46845United States department of medicine Touro university College of Osteopathic MedicineVallejoCA 94592United States department of nephrology Northeast Ohio Medical CenterRootstownOH 44272United States department of Pathology Government Medical College PatialaPatiala 147001PunjabIndia department of Research Wellspan HealthYorkPA 17403United States Division of Pulmonary and Critical care medicine Mayo ClinicRochesterMN 55905United States department of medicine&Pharmacology Texas A&M UniversityCollege StationTX 77843United States

BACKGROUND The adoption of telehealth services surged after the coronavirus disease 2019 pandemic,revolutionizing traditional healthcare delivery *** Clinic's recent nationwide launch marks a significant milestone in this *** study aims to offer a strengths,weaknesses,opportunities,and threats(SWOT)analysis of Amazon Clinic and compare its features with leading virtual healthcare *** To evaluate Amazon Clinic's telehealth services through a SWOT analysis and compare its features with other leading virtual healthcare *** The initial search terms included were,amazon clinic odds ratio(OR)amwell OR Teladoc OR Walmart virtual health service OR CVS minute clinic OR CirrusMD OR brightside health,from 2000 to *** search yielded 111 articles,from which duplicates were removed,and unrelated titles were filtered *** articles were retained for a final review,including comparative studies,usability research,retrospective analyses,observational studies,and review *** data was organized and analyzed using Rayyan software and summarized in a table and PRISMA *** The review included eight articles focusing on various aspects of *** studies highlighted differences between Teladoc and traditional physician offices,noting lower diagnostic imaging orders and antibiotic prescriptions for *** demographics for Teladoc showed younger,less engaged *** studies emphasized the importance of website design for telemedicine ***-mental health platforms like Brightside showed superior outcomes in treating depression compared to traditional *** for specialized fields like skin reconstruction demonstrated cost efficiency and reduced waiting *** SWOT analysis identified Amazon Clinic's strengths,such as its vast consumer base and transparent pricing,and weaknesses like the lack of pediatric *** included potential partnerships and servi

关键词： Tele-health Amazon COVID-19 primary care Outpatient clinic SWOT Telemedicine

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Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease(GCKD)cohort

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Bone Research 2023年第4期11卷 764-771页

作者： Katharina Charlotte Reimer Jennifer Nadal Heike Meiselbach Matthias Schmid Ulla T.Schultheiss Fruzsina Kotsis Helena Stockmann Nele Friedrich Matthias Nauck Vera Krane Kai-Uwe Eckardt Markus P.Schneider Rafael Kramann Jürgen Floege Turgay Saritas department of nephrology Rheumatologyand Clinical ImmunologyUniversity Hospital RWTH AachenAachenGermany Institute of Experimental medicine and Systems Biology RWTH Aachen UniversityAachenGermany Institute for Cell and Tumor Biology RWTH Aachen UniversityAachenGermany Institute of Medical Biometry Informatics and EpidemiologyUniversity Hospital of BonnBonnGermany department of nephrology and Hypertension University of Erlangen-NürnbergErlangenGermany Institute of Genetic Epidemiology Faculty of Medicine and Medical Center-University of FreiburgFreiburgGermany department of medicine iv-nephrology and primary care Faculty of Medicine and Medical Center-University of FreiburgFreiburgGermany department of nephrology and Medical Intensive care Charité-Universitätsmedizin BerlinBerlinGermany department of nephrology University Medical Center RegensburgRegensburgGermany Institute of Clinical Chemistry and Laboratory medicine University Medicine GreifswaldGreifswaldGermany DZHK(German Centre for Cardiovascular Research) Partner Site GreifswaldUniversity MedicineGreifswaldGermany department of medicine I Division of NephrologyUniversity Hospital WürzburgWürzburgGermany

Mineral and bone disorder(MBD)in chronic kidney disease(CKD)is tightly linked to cardiovascular disease(CVD).In this study,we aimed to compare the prognostic value of nine MBD biomarkers to determine those associated best with adverse cardiovascular(CV)outcomes and *** 5217 participants of the German CKD(GCKD)study enrolled with an estimated glomerular filtration rate(eG FR)between 30–60 mL·min-1 per 1.73 m2 or overt proteinuria,serum osteoprotegerin(OPG),C-terminal fibroblast growth factor-23(FGF23),intact parathyroid hormone(iP TH),bone alkaline phosphatase(BAP),cross-linked C-telopeptide of type 1 collagen(CTX1),procollagen 1intact N-terminal propeptide(P1NP),phosphate,calcium,and 25-OH vitamin D were measured at *** with missing values among these parameters(n=971)were excluded,leaving a total of 4246 participants for *** a median follow-up of6.5 years,387 non-CV deaths,173 CV deaths,645 nonfatal major adverse CV events(MACEs)and 368 hospitalizations for congestive heart failure(CHF)were *** and FGF23 were associated with all outcomes,with the highest hazard ratios(HRs)for *** the final Cox regression model,adjusted for CV risk factors,including kidney function and all other investigated biomarkers,each standard deviation increase in OPG was associated with non-CV death(HR 1.76,95%CI:1.35–2.30),CV death(HR 2.18,95%CI:1.50–3.16),MACE(HR 1.38,95%CI:1.12–1.71)and hospitalization for CHF(HR 2.05,95%CI:1.56–2.69).Out of the nine biomarkers examined,stratification based on serum OPG best identified the CKD patients who were at the highest risk for any adverse CV outcome and mortality.

关键词： Kidney cardiovascular vitamin

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Dual-sugar tests of small intestinal permeability are poor predictors of bacterial infections and mortality in cirrhosis: a prospective study

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World Journal of Gastroenterology 2016年第11期22卷 3275-3284页

作者： Anika Vogt Philipp A Reuken Sven Stengel Andreas Stallmach Tony Bruns department of Internal medicine iv (Gastroenterology Hepatologyand Infectious Diseases)Jena University Hospital Center for Sepsis Control and care Jena University Hospital

AIM: To prospectively analyze the impact of increased intestinal permeability (IP) on mortality and the occurrence of infections in patients with ***: IP was quantified using the lactulose/mannitol (L/M) test in 46 hospitalized patients with cirrhosis (25 Child-Pugh A/B, 21 Child-Pugh C) and in 16 healthy controls. Markers of inflammation [LPS-binding protein, Interleukin-6 (IL-6)] and enterocyte death [intestinal fatty-acid binding protein (I-FABP)] were determined in serum using enzyme-linked immunosorbent assays. Patients were followed for one year and assessed for survival, liver transplantation, the necessity of hospitalization and the occurrence of bacterial infections. The primary endpoint of the study was defined as differences in survival between patients with pathological and without pathological lactulose/mannitol ***: Thirty-nine (85%) patients with cirrhosis had a pathologically increased IP index (L/M ratio > 0.07) compared to 4 (25%) healthy controls (P ival or overall survival, neither when assessed as linear variable, as tertiles, nor dichotomized using an established cut-off. In contrast, model for end-stage liver disease score, Child-Pugh score, the presence of ascites, serum IL-6 and I-FABP were univariate predictors of infection-free ***: Although increased IP is a frequent phenomenon in advanced cirrhosis and may predispose to SBP, it failed to predict infection-free and overall survival in this prospective coho

关键词： Intestinal permeability Liver cirrhosis Lactulose/mannitol ratio Spontaneous bacterial peritonitis Bacterial translocation

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Performance of the PRISM I,PIM2,PELOD-2 and PRISM iv scoring systems in western China:a multicenter prospective study

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World Journal of Pediatrics 2022年第12期18卷 818-824页

作者： Xue-Peng Zhang Yun-Xia Feng Yang Li Guo-Yan Lu Xin-Yue Zhou Can-Zheng Wei Xi-Ying Gui Kai-Ying Yang Tong Qiu Jiang-Yuan Zhou Hua Yao Geng Zhang Wen-Qi Zhang Yu-Hang Hu Hong Wu Si-Yuan Chen Yi Ji department of Pediatric Surgery West China Hospital of Sichuan UniversityChengdu610041China department of Critical care medicine West China Hospital of Sichuan UniversityChengdu610041China department of nephrology Mianyang Central HospitalUniversity of Electronic Science and Technology of ChinaMianyang621000China department of Pediatric Critical care medicine West China Women’s and Children’s HospitalSichuan UniversityChengdu610041China department of Pediatric Critical care medicine Sichuan Provincial Maternity and Child Health Care HospitalChengdu610041China department of Critical care medicine People’s Hospital of Tibet Autonomous RegionLhasa850000China department of Anesthesiology the Affiliated Hospital of Guizhou Medical UniversityGuiyang550001China department of Critical care medicine Mianyang Central HospitalUniversity of Electronic Science and Technology of ChinaMianyang621000China

Background The aim of this study was to evaluate the performance of the four scoring tools in predicting mortality in pediatric intensive care units(PICUs)in western *** This was a multicenter,prospective,cohort study conducted in six PICUs in western *** performances of the scoring systems were evaluated based on both discrimination and *** was assessed by calculating the area under the receiver operating characteristic curve(AUC)for each *** was measured across defined groups based on mortality risk using the Hosmer-Lemeshow goodness-of-fit *** A total of 2034 patients were included in this study,of whom 127(6.2%)*** the entire cohort,AUCs for Pediatric Risk of Mortality Score(PRISM)I,Pediatric Index of Mortality 2(PIM2),Pediatric Logistic Organ Dysfunction Score-2(PELOD-2)and PRISM iv were 0.88[95%confidence interval(CI)0.85–0.92],0.84(95%CI 0.80–0.88),0.80(95%CI 0.75–0.85),and 0.91(95%CI 0.88–0.94),*** Hosmer-Lemeshow goodness-of-fit Chi-square value was 12.71(P=0.12)for PRISM I,4.70(P=0.79)for PIM2,205.98(Piv[degree of freedom(df)=8].The standardized mortality ratios obtained with the PRISM I,PIM2,PELOD-2,and PRISM iv models were 0.87(95%CI,0.75–1.01),0.97(95%CI,0.85–1.12),1.74(95%CI,1.58–1.92),and 1.05(95%CI,0.92–1.21),*** PRISM iv performed best and can be used as a prediction tool in PICUs in Western ***,PRISM iv needs to be further validated in NICUs.

关键词： Illness severity score Intensive care Mortality prediction Pediatric

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In-hospital mortality of hepatorenal syndrome in the United States:Nationwide inpatient sample

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World Journal of Gastroenterology 2021年第45期27卷 7831-7843页

作者： Wisit Kaewput Charat Thongprayoon Carissa Y Dumancas Swetha R Kanduri Karthik Kovvuru Chalermrat Kaewput Pattharawin Pattharanitima Tananchai Petnak Ploypin Lertjitbanjong Boonphiphop Boonpheng Karn Wijarnpreecha Jose L Zabala Genovez Saraschandra Vallabhajosyula Caroline C Jadlowiec Fawad Qureshi Wisit Cheungpasitporn department of Military and Community medicine Phramongkutklao College of MedicineBangkok 10400Thailand Division of nephrology and Hypertension Mayo ClinicRochesterMN 55905United States Division of nephrology Department of MedicineOchsner Clinic FoundationNew OrleansLA 70121United States Division of Nuclear medicine Department of RadiologyFaculty of Medicine Siriraj HospitalMahidol UniversityBangkok 10400Thailand department of Internal medicine Faculty of MedicineThammasat UniversityPathum Thani 12121Thailand Division of Pulmonary and Pulmonary Critical care medicine Faculty of MedicineRamathibodi HospitalMahidol UniversityBangkok 10400Thailand Division of Pulmonary Critical Careand Sleep MedicineUniversity of Tennessee Health Science CenterMemphisTN 13326United States Division of nephrology University of WashingtonSeattleWA 98195United States Division of Gastroenterology and Hepatology University of MichiganAnn ArborMI 48109United States Section of Cardiovascular medicine Department of MedicineWake Forest University School of MedicineWinston-SalemNC 27101United States Division of Transplant Surgery Mayo ClinicPhoenixAZ 85054United States Division of nephrology and Hypertension Department of MedicineMayo ClinicRochesterMN 55905United States

BACKGROUND Hepatorenal syndrome(HRS)is a life-threatening condition among patients with advanced liver *** trends specific to hospital mortality and hospital admission resource utilization for HRS remain *** To assess the temporal trend in mortality and identify the predictors for mortality among hospital admissions for HRS in the United *** We used the National Inpatient Sample database to identify an unweighted sample of 4938 hospital admissions for HRS from 2005 to 2014(weighted sample of 23973 admissions).The primary outcomes were temporal trends in mortality as well as predictors for hospital *** estimated odds ratios from multilevel mixed effect logistic regression to identify patient characteristics and treatments associated with hospital *** Overall hospital mortality was 32%.Hospital mortality decreased from 44%in 2005 to 24%in 2014(Piver transplantation(P=0.02),renal replacement therapy(Pivariable analysis,older age,alcohol use,coagulopathy,neurological disorder,and need for mechanical ventilation predicted higher hospital mortality,whereas liver transplantation,transjugular intrahepatic portosystemic shunt,and abdominal paracentesis were associated with lower hospital *** Although there was an increase in resource utilizations,hospital mortality among patients admitted for HRS significantly *** predictors for hospital mortality were identified.

关键词： Hepatorenal syndrome Liver transplantation Mortality Nationwide Big data Hospitalization Outcomes Predictors

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Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer:a phase Ib/II efficacy and biomarker study

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Signal Transduction and Targeted Therapy 2021年第12期6卷 3636-3644页

作者： Pingli Wang Yuping Li Dongqing Lv Lingge Yang Liren Ding Jianya Zhou Wei Hong Youfei Chen Dongqing Zhang Susu He Jianying Zhou Kai Wang department of Respiratory and Critical care medicine The Second Affiliated Hospital of Zhejiang University School of MedicineHangzhouChina department of Respiratory and Critical care medicine The First Affiliated Hospital of Wenzhou Medical UniversityWenzhouChina department of Respiratory medicine Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical UniversityLinhaiChina department of Respiratory and Critical care medicine The Fourth Affiliated Hospital of Zhejiang University School of MedicineYiwuChina department of Respiratory Diseases Thoracic Disease Diagnosis and Treatment CenterThe First Affiliated HospitalCollege of MedicineZhejiang UniversityHangzhouChina department of Oncology and Chemotherapy Zhejiang Cancer HospitalHangzhouChina

EGFR inhibitors have revolutionized the treatment of advanced non-small-cell lung cancer(NSCLC).Mefatinib is a novel,bioavailable,second-generation,irreversible pan-EGFR *** phase Ib/II open-label,single-arm,multi-center study investigated the efficacy,safety,biomarker,and resistance mechanisms of mefatinib in the first-line treatment of patients with advanced EGFR-mutant *** study included 106 patients with EGFR-mutant stage IIIB-iv NSCLC who received first-line mefatinib at a daily dose of either 60 mg(n=51)or 80 mg(n=55).The primary endpoint was progression-free survival(PFS).Secondary endpoints were overall response rate(ORR),disease control rate(DCR),overall survival(OS),and *** cohort achieved an ORR of 84.9%and DCR of 97.2%.The median PFS was 15.4 months and the median OS was 31.6 *** metastasis was detected in 29%of patients(n=31)at diagnosis and demonstrated an ORR of 87.1%,PFS of 12.8 months,and OS of 25.2 *** events primarily involved skin and gastrointestinal toxicities,which were well-tolerated and *** of mutation profiles were performed using targeted sequencing of plasma samples at baseline,first follow-up 6 weeks from starting mefatinib therapy(F1),and at *** with concurrent TP53 mutations had comparable PFS as wild-type TP53(14.0 vs 15.4 months;p=0.315).Furthermore,circulating tumor DNA clearance was associated with longer PFS(p=0.040)and OS(p=0.002).EGFR T790M was the predominant molecular mechanism of mefatinib resistance(42.1%,16/38).First-line mefatinib provides durable PFS and an acceptable toxicity profile in patients with advanced EGFR-mutant NSCLC.

关键词： patients treatment irreversible

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Analysis of current status of and barriers to exercise participation among patients on maintenance hemodialysis

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Journal of Integrative Nursing 2024年第2期6卷 96-102页

作者： Xin TIAN Xiuli LI Jianhua DENG department of Traditional Chinese medicine Air Force Medical CenterPLABeijingChina department of nephrology Dongfang HospitalBeijing University of Chinese MedicineBeijingChina

Objective:The objective of this study was to analyze the current status of barriers to exercise participation(EP)among patients on maintenance hemodialysis(MHD).Materials and Methods:A cross-sectional study was conducted on 277 outpatients undergoing MHD in 2 tertiary first-class hospitals in Beijing from February 2023 to June 2023 who were selected using convenience sampling *** data of patients on MHD were collected using the general information questionnaire,Physical Activity Rating Scale,Exercise Benefits/Barriers Scale(EBBS),and Exercise Self-Efficacy Scale(ESES).The relationship between EP and barriers to EP was analyzed through univariate and multivariate linear regression ***:Patients on MHD had a low exercise volume score of 13.71±0.68 points and a medium EBBS score of 63.36±0.40 *** logistic analysis showed that exercise volume was significantly related to the following four aspects,including low monthly household income per capita(odds ratio[OR]=86.741,95%confidence interval[CI][1.164-6.465],P=0.042),primary underlying disease of diabetic nephropathy(OR=45.993,95%CI[1.353-1.564],P=0.033),the belief that“fatigue in lower extremities hinders exercise”(OR=4.697,95%CI[1.127-19.585],P=0.034),and the belief that“physical exercise bringing optimistic and positive life attitude”(OR=0.074,95%CI[0.007-0.830],P=0.035).Conclusions:Since patients on MHD had low physical exercise volume,the health-care provider should pay more attention on the controllable factors that affect the EP of patients on ***,feasible and effective intervention measures can be formulated based on ESES in clinical nursing.

关键词： Barrier(s) exercise rehabilitation exercise maintenance hemodialysis physical activity renal dialysis

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Early vs late oral nutrition in patients with diabetic ketoacidosis admitted to a medical intensive care unit

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World Journal of Diabetes 2019年第1期10卷 57-62页

作者： Kirill Lipatov Kevin K Kurian Courtney Shaver Heath D White Shekhar GhamANDe AlejANDro C Arroliga Salim Surani department of Internal medicine Division of Pulmonary Critical Care and Sleep MedicineBaylor Scott and White Health department of Biostatistics Baylor Scott and White Health department of medicine Texas A and M University

BACKGROUND Diabetic ketoacidosis(DKA) has an associated mortality of 1% to 5%. Upon admission, patients require insulin infusion and close monitoring of electrolyte and blood sugar levels with subsequent transitioning to subcutaneous insulin and oral nutrition. No recommendations exist regarding the appropriate timing for initiation of oral *** To assess short-term outcomes of oral nutrition initiated within 24 h of patients being admitted to a medical intensive care unit(MICU) for *** A retrospective observational cohort study was conducted at a single academic medical center. The patient population consisted of adults admitted to the MICU with the diagnosis of DKA. Baseline characteristics and outcomes were compared between patients receiving oral nutrition within(early nutrition group) and after(late nutrition group) the first 24 h of admission. The primary outcome was 28-d mortality. Secondary outcomes included 90-d mortality, MICU and hospital lengths of stay(LOS), and time to resolution of *** There were 128 unique admissions to the MICU for DKA with 67 patientsreceiving early nutrition and 61 receiving late nutrition. The APACHE(Acute Physiology and Chronic Health Evaluation) iv mortality and LOS scores and DKA severity were similar between the groups. No difference in 28-or 90-d mortality was found. Early nutrition was associated with decreased hospital and MICU LOS but not with prolonged DKA resolution, anion gap closure, or greater rate of DKA *** In patients with DKA, early nutrition was associated with a shorter MICU and hospital LOS without increasing the rate of DKA complications.

关键词： Diabetes mellitus Diabetic ketoacidosis Diabetic complications Acidosis Ketosis Critical care

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A randomized comparative study of flexible ureterorenoscopy versus mini-percutaneous nephrolithotomy for treatment of renal stones 2 cm or less

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Current Urology 2024年第4期18卷 273-277页

作者： Amr E.Darwish Alaa E.Abdel Moneim Abdelfatah I.Ahmed Seif M.Hamdy Hassan A.Abolella Ahmed Reda Urology and nephrology Hospital Faculty of MedicineAssiut UniversityAssiutEgypt department of Urology Faculty of MedicineAlexandria UniversityAlexandriaEgypt

Background Flexible ureterorenoscopy(fURS)and mini-percutaneous nephrolithotomy(mPCNL)have been increasingly used for the treatment of renal ***,current guidelines do not recommend one modality over the *** aim of this study is to compare the safety and efficacy of treatment with fURS versus mPCNL for renal stones sized 2 cm or *** and methods A prospective,randomized,comparative study was conducted between January 2019 and July 2021 at 3 tertiary care urology *** criteria were adult patients with renal stone(s)≤2 cm with inappropriateness or failure of extracorporeal shock-wave *** were assigned to 1 of 2 treatment groups,either mPCNL or *** primary outcomes were assessed:(1)initial success rate,defined as the absence of clinically significant residual fragments(>2 mm)on kidney ureter bladder X-ray and ultrasound on the first postoperative day;and(2)complications,which were reported according to the Modified Clavien-Dindo classification *** outcomes included final success rate,defined as the absence of clinically significant residual fragments on noncontrast computed tomography on the 90th postoperative day;operative time;auxiliary procedures and blood transfusion rates;hemoglobin drop;and length of hospital *** One hundred and eighteen procedures were analyzed(59 in each group).The initial success rate of the mPCNL group(93%)was significantly higher than that of the fURS group(70%).Complications occurred more frequently with mPCNL than fURS(44.1%vs.18.6%,respectively).Final success rate,operative time,and length of hospital stay were comparable between the 2 *** Mini-percutaneous nephrolithotomy is more effective than fURS as a single-step treatment for renal stones<2 cm because of its higher initial success rate and lower auxiliary procedure ***,mPCNL results in significantly higher complication rates than fURS.

关键词： Endourology Flexible ureterorenoscopy Mini-percutaneous nephrolithotomy Retrograde intrarenal surgery Urolithiasis

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CCNO mutation as a cause of primary ciliary dyskinesia:A case report

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World Journal of Clinical Cases 2022年第25期10卷 9148-9155页

作者： Yun-Yan Zhang Yan Lou Han Yan Hao Tang department of Respiratory and Critical care medicine Changzheng HospitalNaval Military Medical UniversityShanghai 200003China department of Orthopedic Oncology Spine Tumor CenterChangzheng HospitalNaval Military Medical UniversityShanghai 200003China department of nephrology 905th Hospital of PLA NavyNaval Military Medical UniversityShanghai 200050China

BACKGROUND primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse *** to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly in preschool,with an average age of about(10.9±14.4)years *** is a pathogenic gene that regulates the cell cycle,and its mutation is linked to the uncommon human genetic disorder *** the prevalence of the CCNO mutation is regarded to be exceptionally low,new reports of this mutation have increased in comparison to prior *** patients with CCNO are rare,and the incidence rate is no more than 2%in whole PCD *** SUMMARY Here,we report a case of a young Chinese woman diagnosed with PCD,who was found to carry the CCNO gene by whole exon gene *** this case,a young non-smoking Chinese female exhibiting recurrent cough and sputum at *** computed tomography(CT)showed bronchiectasis with infection,and sinus CT showed chronic ***,the patient had no visceral transposition and no history of *** electron microscope,it was found that cilia were short and reduced in number,and no power arm of cilia was *** exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene,exon c.303C>A nonsense mutation and c.248_252dup frameshift *** clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral *** The results showed that CCNO is an important cause of *** mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has ***,the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.

关键词： primary ciliary immobility disorder CCNO gene Whole exon gene sequencing Clinical profiles Review of literature Case report

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