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A NEWLY RECOGNIZED PRECANCEROUS LESION OF THE STOMACH (HISTOPATHOLOGIC FEATURES OF GLOBOID DYSPLASIA OF HUMAN GASTRIC EPITHELIUM) 被引量:2
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作者 刘树卿 张荫昌 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 1989年第4期22-27,共6页
The histopathological features of the globoid dysplasia of the human gastric epithelium were described in detail and in series by means of observation of serial sections of 61 cases with globoid dys-plasias. Three gra... The histopathological features of the globoid dysplasia of the human gastric epithelium were described in detail and in series by means of observation of serial sections of 61 cases with globoid dys-plasias. Three grades were divided according to the architectural and cellular atypia of the globoid dys-plasias. The penetration of outer layer globoid dys-plastic cells through the basement membrane of 'the structure of double layers' appeared in typical globoid dysplasia grade II and the infiltration of the globoid dysplastic cells into stroma as well as the formation of incipient focus of signet ring cell carcinoma were described. The twinkling scene of the infiltration of the globoid dysplastic cells into lamina propria through the basement membrane, and the destroying of the basement membrane by the globoid dysplastic cells were shown by means of Gordon Sweet's staining. Through the analysis as for the distribution characteristics of ages and sexes in 61 globoid dysplasia cases and 51 signet ring cell carcinomas, a fact was discovered that the mobility of female cases was ten years prior to that of male ones in average. A conclusion could be made that the globoid dysplasia might be an important precan-cerous lesion of the signet ring cell carcinoma of the stomach. 展开更多
关键词 HISTOPATHOLOGIC FEATURES OF globoid dysplasia OF HUMAN GASTRIC EPITHELIUM A NEWLY RECOGNIZED PRECANCEROUS LESION OF THE STOMACH
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RANKL inhibition reduces lesional cellularity and Gαs variant expression and enables osteogenic maturation in fibrous dysplasia
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作者 Luis F.de Castro Jarred M.Whitlock +11 位作者 Zachary Michel Kristen Pan Jocelyn Taylor Vivian Szymczuk Brendan Boyce Daniel Martin Vardit Kram Rebeca Galisteo Kamran Melikov Leonid V.Chernomordik Michael T.Collins Alison M.Boyce 《Bone Research》 SCIE CAS CSCD 2024年第1期165-179,共15页
Fibrous dysplasia(FD)is a rare,disabling skeletal disease for which there are no established treatments.Growing evidence supports inhibiting the osteoclastogenic factor receptor activator of nuclear kappa-B ligand(RAN... Fibrous dysplasia(FD)is a rare,disabling skeletal disease for which there are no established treatments.Growing evidence supports inhibiting the osteoclastogenic factor receptor activator of nuclear kappa-B ligand(RANKL)as a potential treatment strategy.In this study,we investigated the mechanisms underlying RANKL inhibition in FD tissue and its likely indirect effects on osteoprogenitors by evaluating human FD tissue pre-and post-treatment in a phase 2 clinical trial of denosumab(NCT03571191)and in murine in vivo and ex vivo preclinical models.Histological analysis of human and mouse tissue demonstrated increased osteogenic maturation,reduced cellularity,and reduced expression of the pathogenic Gαs variant in FD lesions after RANKL inhibition.RNA sequencing of human and mouse tissue supported these findings.The interaction between osteoclasts and mutant osteoprogenitors was further assessed in an ex vivo lesion model,which indicated that the proliferation of abnormal FD osteoprogenitors was dependent on osteoclasts.The results from this study demonstrated that,in addition to its expected antiosteoclastic effect,denosumab reduces FD lesion activity by decreasing FD cell proliferation and increasing osteogenic maturation,leading to increased bone formation within lesions.These findings highlight the unappreciated role of cellular crosstalk between osteoclasts and preosteoblasts/osteoblasts as a driver of FD pathology and demonstrate a novel mechanism of action of denosumab in the treatment of bone disease. 展开更多
关键词 dysplasia treatment finding
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Recent Advances in Bronchopulmonary Dysplasia Protection and Therapy
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作者 Pingfan Xia Hongyi Li +1 位作者 Zhe Xu Yongping Lu 《Health》 2024年第5期470-489,共20页
For preterm infants, bronchopulmonary dysplasia (BPD) is usually caused by abnormal lung development due to various factors during prenatal and postnatal process. One of the reasons for death and bad prognosis of pret... For preterm infants, bronchopulmonary dysplasia (BPD) is usually caused by abnormal lung development due to various factors during prenatal and postnatal process. One of the reasons for death and bad prognosis of preterm infants is to have BPD. Up to now, there are no unified strategies or drugs to treat BPD. In clinical, many intervention treatments have been applied to achieve BPD therapy, mainly including preterm protection, protective ventilation strategies, and delivery of corticosteroids, pulmonary vasodilators, and antioxidants. This review summarizes the current advances in BPD protection and treatment, and notes that gut microbiota and mesenchymal stem cells (MSCs) can be the promising strategy for protecting and treating BPD in the future. 展开更多
关键词 Bronchopulmonary dysplasia Preterm Infants Protection and Therapy Mesenchymal Stem Cells Gut Microbiota
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Treatment of bilateral developmental dysplasia of the hip joint with an improved technique:A case report
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作者 Xing-Xing Yu Jian-Ye Chen +3 位作者 Hong-Sheng Zhan Ming-Da Liu Yun-Fei Li Yu-Yan Jia 《World Journal of Clinical Cases》 SCIE 2024年第7期1320-1325,共6页
BACKGROUND Developmental dysplasia of the hip(DDH)is a common osteoarticular deformity in pediatric orthopedics.A patient with bilateral DDH was diagnosed and treated using our improved technique"(powerful overtu... BACKGROUND Developmental dysplasia of the hip(DDH)is a common osteoarticular deformity in pediatric orthopedics.A patient with bilateral DDH was diagnosed and treated using our improved technique"(powerful overturning acetabuloplasty)"combined with femoral rotational shortening osteotomy.CASE SUMMARY A 4-year-old girl who was diagnosed with bilateral DDH could not stand normally,and sought surgical treatment to solve the problem of double hip extension and standing.As this child had high dislocation of the hip joint and the acetabular index was high,we changed the traditional acetabuloplasty to"powerful turnover acetabuloplasty"combined with femoral rotation shortening osteotomy.During the short-term postoperative follow-up(1,3,6,9,12,and 15 months),the child had no discomfort in her lower limbs.After the braces and internal fixation plates were removed,formal rehabilitation training was actively carried out.CONCLUSION Our"powerful overturning acetabuloplasty"combined with femoral rotational shortening osteotomy is feasible in the treatment of DDH in children.This technology may be widely used in the clinic. 展开更多
关键词 Developmental dysplasia of the hip Improved technique Case report
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Roles of combined femoral and acetabular anteversion in pathological changes of hip dysplasia and hip reconstructive surgery
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作者 Can Liu Zheng Xu +5 位作者 Jian-Fa Zeng Zhen-Qi Song Yu-Yin Xie Zhong-Wen Tang Jie Wen Sheng Xiao 《World Journal of Orthopedics》 2024年第5期390-399,共10页
Combined femoral and acetabular anteversion is the sum of femoral and acetabular anteversion,representing their morphological relationship in the axial plane.Along with the increasing understanding of hip dysplasia in... Combined femoral and acetabular anteversion is the sum of femoral and acetabular anteversion,representing their morphological relationship in the axial plane.Along with the increasing understanding of hip dysplasia in recent years,numerous scholars have confirmed the role of combined femoral and acetabular anteversion in the pathological changes of hip dysplasia.At present,the reconstructive surgery for hip dysplasia includes total hip replacement and redirectional hip preservation surgery.As an important surgery index,combined femoral and acetabular anteversion have a crucial role in these surgeries.Herein,we discuss the role of combined femoral and acetabular anteversion in pathological changes of hip dysplasia,total hip replacement,and redirectional hip preservation surgery. 展开更多
关键词 Combined anteversion Femoral anteversion Acetabular anteversion Hip dysplasia Hip preservation surgery Total hip replacement
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Spontaneous Coronary Artery Disease in a Healthy Fibromuscular Dysplasia Patient: A Case Report
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作者 Munir Shunnar Obada Alshaikh +1 位作者 Maha Alzubaidi Hyun-Ryung Choi 《Case Reports in Clinical Medicine》 2024年第9期375-381,共7页
Our case is a 72-year-old female with Fibromuscular Dysplasia (FMD) presented to the Emergency Department (ED) with acute coronary syndrome (ACS), more specifically NSTEMI. In ED, troponin levels were elevated and non... Our case is a 72-year-old female with Fibromuscular Dysplasia (FMD) presented to the Emergency Department (ED) with acute coronary syndrome (ACS), more specifically NSTEMI. In ED, troponin levels were elevated and non-ST segment elevation myocardial infarction (NSTEMI) was detected on electrocardiogram (ECG). Computed tomography (CT) scan showed Internal Carotid artery (ICA) pseudoaneurysm. Cardiac catheterization (CATH) was performed and revealed occlusion of the Left anterior descending (LAD) artery. Spontaneous coronary artery dissection (SCAD) was suspected due to the history of FMD without a history of hypertension, smoking or substance use. 展开更多
关键词 SCAD NSTEMI STEMI ACS Eliquis PSEUDOANEURYSM Fibromuscular dysplasia ANTICOAGULANT ANTIPLATELET Coronary Dissection Neuroendovascular Cardiology WARFARIN Cath Lab APIXABAN Clopidogrel
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HIPPO artificial intelligence:Correlating automated radiographic femoroacetabular measurements with patient-reported outcomes in developmental hip dysplasia
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作者 Ahmed Alshaikhsalama Holden Archer +3 位作者 Yin Xi Richard Ljuhar Joel E Wells Avneesh Chhabra 《World Journal of Experimental Medicine》 2024年第4期136-146,共11页
BACKGROUND Hip dysplasia(HD)is characterized by insufficient acetabular coverage of the femoral head,leading to a predisposition for osteoarthritis.While radiographic measurements such as the lateral center edge angle... BACKGROUND Hip dysplasia(HD)is characterized by insufficient acetabular coverage of the femoral head,leading to a predisposition for osteoarthritis.While radiographic measurements such as the lateral center edge angle(LCEA)and Tönnis angle are essential in evaluating HD severity,patient-reported outcome measures(PROMs)offer insights into the subjective health impact on patients.AIM To investigate the correlations between machine-learning automated and manual radiographic measurements of HD and PROMs with the hypothesis that artificial intelligence(AI)-generated HD measurements indicating less severe dysplasia correlate with better PROMs.METHODS Retrospective study evaluating 256 hips from 130 HD patients from a hip preservation clinic database.Manual and AI-derived radiographic measurements were collected and PROMs such as the Harris hip score(HHS),international hip outcome tool(iHOT-12),short form(SF)12(SF-12),and Visual Analogue Scale of the European Quality of Life Group survey were correlated using Spearman's rank-order correlation.RESULTS The median patient age was 28.6 years(range 15.7-62.3 years)with 82.3%of patients being women and 17.7%being men.The median interpretation time for manual readers and AI ranged between 4-12 minutes per patient and 31 seconds,respectively.Manual measurements exhibited weak correlations with HHS,including LCEA(r=0.18)and Tönnis angle(r=-0.24).AI-derived metrics showed similar weak correlations,with the most significant being Caput-Collum-Diaphyseal(CCD)with iHOT-12 at r=-0.25(P=0.042)and CCD with SF-12 at r=0.25(P=0.048).Other measured correlations were not significant(P>0.05).CONCLUSION This study suggests AI can aid in HD assessment,but weak PROM correlations highlight their continued importance in predicting subjective health and outcomes,complementing AI-derived measurements in HD management. 展开更多
关键词 Hip dysplasia Patient reported outcome measures Deep-learning Artificial intelligence RADIOGRAPHS Lateral center edge angle
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Influence of Gut and Lung Microbiota and the Gut-Lung Axis on Bronchopulmonary Dysplasia
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作者 Binxiang Xu Yumei Liang 《Journal of Clinical and Nursing Research》 2024年第9期30-35,共6页
Bronchopulmonary dysplasia(BPD),also known as neonatal chronic lung disease,is a common respiratory disease in preterm infants.Preterm infants with BPD often exhibit changes in gut and lung microbiota.In recent years,... Bronchopulmonary dysplasia(BPD),also known as neonatal chronic lung disease,is a common respiratory disease in preterm infants.Preterm infants with BPD often exhibit changes in gut and lung microbiota.In recent years,with the development of high-throughput sequencing technology,more and more mechanisms of the gut-lung axis have been confirmed,helping to explore new directions for the treatment of BPD using microecological agents.This paper reviews the roles of gut microbiota,lung microbiota,and the gut-lung axis in the pathogenesis of BPD in preterm infants,providing new research avenues for the prevention and treatment of BPD. 展开更多
关键词 Bronchopulmonary dysplasia Gut-lung axis Gut microbiota Lung microbiota
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Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita:A case report 被引量:1
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作者 Yang Jiao Jun-Duo Zhao +2 位作者 Xu-An Huang Hao-Yu Cai Jian-Xiong Shen 《World Journal of Orthopedics》 2023年第11期827-835,共9页
BACKGROUND Spondyloepiphyseal dysplasia congenita(SEDC)is a rare autosomal dominant hereditary disease caused by COL2A1 mutations.SEDC primarily involves the skeletal system,with typical clinical manifestations,includ... BACKGROUND Spondyloepiphyseal dysplasia congenita(SEDC)is a rare autosomal dominant hereditary disease caused by COL2A1 mutations.SEDC primarily involves the skeletal system,with typical clinical manifestations,including short stature,hip dysplasia,and spinal deformity.Due to the low incidence of SEDC,there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities.CASE SUMMARY We report a case of a 16-year-old male patient with SEDC.He presented with typical short stature,atlantoaxial dysplasia,scoliosis,and hip dysplasia.Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy.The scoliosis was a right thoracic curve with a Cobb angle of 65°.He underwent atlantoaxial reduction,decompression,and internal fixation from C1–C2 to relieve cervical myelopathy.Three months after cervical surgery,posterior correction surgery for scoliosis was performed from T3 to L4.Scoliosis was corrected from 66°to 8°and remained stable at 2-year follow-up.CONCLUSION This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis.The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities. 展开更多
关键词 Spondyloepiphyseal dysplasia congenita Surgical treatment Atlantoaxial dysplasia SCOLIOSIS Hip dysplasia Case report
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Acromicric dysplasia caused by a mutation of fibrillin 1 in a family:A case report 被引量:2
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作者 Ren Shen Jian-Hua Feng Shan-Pu Yang 《World Journal of Clinical Cases》 SCIE 2023年第9期2036-2042,共7页
BACKGROUND Acromicric dysplasia(AD)is a rare skeletal dysplasia.Its incidence is<1/1000000,and only approximately 60 cases are reported worldwide.It is a disease characterized by severe short stature,short hands an... BACKGROUND Acromicric dysplasia(AD)is a rare skeletal dysplasia.Its incidence is<1/1000000,and only approximately 60 cases are reported worldwide.It is a disease characterized by severe short stature,short hands and feet,facial abnormalities,normal intelligence,and bone abnormalities.Unlike other skeletal dysplasia,AD has a mild clinical phenotype,mainly characterized by short stature.Extensive endocrine examination has not revealed a potential cause.The clinical effect of growth hormone therapy is still uncertain.CASE SUMMARY We report a clinical phenotype of AD associated with mutations in the fibrillin 1(FBN1)(OMIM 102370)gene c.5183C>T(p.Ala1728Val)in three people from a Chinese family.A 4-year-old member of the family first visited the hospital because of slow growth and short stature for 2 years,but no abnormalities were found after a series of laboratory tests,echocardiography,pituitary magnetic resonance imaging,and ophthalmological examination.Recombinant human growth hormone(rhGH)was used to treat the patient for>5 years.The efficacy of rhGH was apparent in the first year of treatment;the height increased from-3.64 standard deviation score(SDS)to-2.88 SDS,while the efficacy weakened from the second year.However,long-term follow-up is required to clarify the efficacy of rhGH.CONCLUSION FBN1-related AD has genetic heterogeneity and/or clinical variability,which brings challenges to the evaluation of clinical treatment.rhGH is effective for treatment of AD,but long-term follow-up is needed to clarify the effect. 展开更多
关键词 Fibrillin 1 Gene Acromicric dysplasia Short stature Recombinant human growth hormone Case report
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Effects of different pelvic osteotomies on acetabular morphology in developmental dysplasia of hip in children 被引量:1
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作者 Zhi Wen Yu-Yuan Wu +2 位作者 Gao-Yan Kuang Jie Wen Min Lu 《World Journal of Orthopedics》 2023年第4期186-196,共11页
Developmental dysplasia of hip seriously affects the health of children,and pelvic osteotomy is an important part of surgical treatment.Improving the shape of the acetabulum,preventing or delaying the progression of o... Developmental dysplasia of hip seriously affects the health of children,and pelvic osteotomy is an important part of surgical treatment.Improving the shape of the acetabulum,preventing or delaying the progression of osteoarthritis is the ultimate goal of pelvic osteotomies.Re-directional osteotomies,reshaping osteotomies and salvage osteotomies are the three most common types of pelvic osteotomy.The influence of different pelvic osteotomy on acetabular morphology is different,and the acetabular morphology after osteotomy is closely related to the prognosis of the patients.But there lacks comparison of acetabular morphology between different pelvic osteotomies,on the basis of retrospective analysis and measurable imaging indicators,this study predicted the acetabular shape after developmental dysplasia of the hip pelvic osteotomy in order to help clinicians make reasonable and correct decisions and improve the planning and performance of pelvic osteotomy. 展开更多
关键词 Developmental dysplasia of the hip Pelvic osteotomy Acetabular morphology Re-directional osteotomies Reshaping osteotomies Salvage osteotomies
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Frequency of Cervix Dysplasia in Women with Prolapsed Uterus: Cross-Sectional Descriptive Study at Panzi General Referral Hospital
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作者 Nadine Neema Rukunghu Olivier Nyakio +6 位作者 Eloge Ilunga-Mbaya Chasinga Baharanyi Tchass Kongwa Madoli Dieudonné Kakusu Julien Bwama Botalatala Eric Munguakonkwa Ntagereka Denis Mukwege 《Open Journal of Obstetrics and Gynecology》 2023年第7期1142-1150,共9页
Introduction: According to the WHO (January 7, 2022), cervical cancer is the second leading cause of cancer death worldwide among women of childbearing age. However, cervical cancer is highly preventable and treatable... Introduction: According to the WHO (January 7, 2022), cervical cancer is the second leading cause of cancer death worldwide among women of childbearing age. However, cervical cancer is highly preventable and treatable due to its well-known disease history which goes through several detectable pre-cancerous phases with available treatments. There are very few data on the prevalence of dysplastic lesions of the cervix in the Democratic Republic of the Congo. Panzi General Referral Hospital is a care center for women with genital prolapse, and our study aimed to determine the prevalence of dysplastic lesions of the cervix in this particular population. Methodology: This is a cross-sectional study of all women aged ≥ 18 years who consulted at the HGR Panzi from September 01 to December 31, 2022, diagnosed with uterine prolapse and who consented to the study. Results: The mean (±SD) age of the patients was 47.44 (±14.42) years and the majority (67.7%) of them were aged 40 and over. For all of the respondents, the Pap smear was normal in 62.6% and inflammatory in 2% of cases, while cytological abnormalities, which were found in 35.4% of cases, including 12.1% of lesions high-grade dysplastic (HSIL), i.e. 12 out of a total of 99 women examined. Conclusion: Women with uterine prolapse are twice as likely to develop dysplastic lesions as the general female population. A screening and management program for these lesions is essential in our preoperative protocol at the HGR Panzi and at the national level in general. 展开更多
关键词 Cervical dysplasia Uterine Prolapse Panzi General Hospital DRC
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Usefulness of analyzing endoscopic features in identifying the colorectal serrated sessile lesions with and without dysplasia
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作者 Rui-Gang Wang Yu-Tang Ren +4 位作者 Xuan Jiang Lai Wei Xiao-Fei Zhang Hao Liu Bo Jiang 《World Journal of Clinical Cases》 SCIE 2023年第29期6995-7003,共9页
BACKGROUND Sessile serrated lesions(SSLs)are often missed on colonoscopy,and studies have shown this to be an essential cause of interstitial colorectal cancer.The SSLs with dysplasia(SSL-D+),in particular,have a fast... BACKGROUND Sessile serrated lesions(SSLs)are often missed on colonoscopy,and studies have shown this to be an essential cause of interstitial colorectal cancer.The SSLs with dysplasia(SSL-D+),in particular,have a faster rate of carcinogenesis than conventional tubular adenomas.Therefore,there is a clinical need for some endoscopic features with independent diagnostic value for SSL-D+s to assist endoscopists in making immediate diagnoses,thus improving the quality of endoscopic examination and treatment.AIM To compare the characteristics of SSLs,including those with and without dysplasia(SSL-D+and SSL-D-),based on white light and image-enhanced endoscopy,to achieve an immediate differential diagnosis for endoscopists.METHODS From January 2017 to February 2023,cases of colorectal SSLs confirmed by colonoscopy and histopathology at the Gastrointestinal Endoscopy Center of Beijing Tsinghua Changgung Hospital were collected.The general,endoscopic,and histopathological data were reviewed and analyzed to determine the diagnostic utility.Univariate analysis was used to find potential diagnostic factors,and then multivariate regression analysis was performed to derive endoscopic features with independent diagnostic values for the SSL-D+.RESULTS A total of 228 patients with 253 lesions were collected as a result.There were 225 cases of colorectal SSL-D-s and 28 cases of SSL-D+s.Compared to the colorectal SSL-D-,the SSL-D+was more common in the right colon(P=0.027)with complex patterns of depression,nodule,and elevation based on cloud-like surfaces(P=0.003),reddish(P<0.001),microvascular varicose(P<0.001),and mixed type(Pit II,II-O,IIIL,IV)of crypt opening based on Pit II-O(P<0.001).Multifactorial logistic regression analysis indicated that lesions had a reddish color[odds ratio(OR)=18.705,95%confidence interval(CI):3.684-94.974],microvascular varicose(OR=6.768,95%CI:1.717-26.677),and mixed pattern of crypt opening(OR=20.704,95%CI:2.955-145.086)as the independent predictors for SSL-D+s.CONCLUSION The endoscopic feature that has independent diagnostic value for SSL-D+is a reddish color,microvascular varicose,and mixed pattern of crypt openings. 展开更多
关键词 Sessile serrated lesions dysplasia Endoscopic features
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Deep learning-assisted diagnosis of femoral trochlear dysplasia based on magnetic resonance imaging measurements
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作者 Sheng-Ming Xu Dong Dong +3 位作者 Wei Li Tian Bai Ming-Zhu Zhu Gui-Shan Gu 《World Journal of Clinical Cases》 SCIE 2023年第7期1477-1487,共11页
BACKGROUND Femoral trochlear dysplasia(FTD)is an important risk factor for patellar instability.Dejour classification is widely used at present and relies on standard lateral X-rays,which are not common in clinical wo... BACKGROUND Femoral trochlear dysplasia(FTD)is an important risk factor for patellar instability.Dejour classification is widely used at present and relies on standard lateral X-rays,which are not common in clinical work.Therefore,magnetic resonance imaging(MRI)has become the first choice for the diagnosis of FTD.However,manually measuring is tedious,time-consuming,and easily produces great variability.AIM To use artificial intelligence(AI)to assist diagnosing FTD on MRI images and to evaluate its reliability.METHODS We searched 464 knee MRI cases between January 2019 and December 2020,including FTD(n=202)and normal trochlea(n=252).This paper adopts the heatmap regression method to detect the key points network.For the final evaluation,several metrics(accuracy,sensitivity,specificity,etc.)were calculated.RESULTS The accuracy,sensitivity,specificity,positive predictive value and negative predictive value of the AI model ranged from 0.74-0.96.All values were superior to junior doctors and intermediate doctors,similar to senior doctors.However,diagnostic time was much lower than that of junior doctors and intermediate doctors.CONCLUSION The diagnosis of FTD on knee MRI can be aided by AI and can be achieved with a high level of accuracy. 展开更多
关键词 Femoral trochlear dysplasia Deep learning Artificial intelligence Magnetic resonance imaging DIAGNOSIS
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Hidrotic ectodermal dysplasia in a Chinese pedigree:A case report
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作者 Ming-Yi Liao Hui Peng +3 位作者 Long-Nian Li Tao Yang Shi-Yin Xiong Xiao-Ying Ye 《World Journal of Clinical Cases》 SCIE 2023年第6期1403-1409,共7页
BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varyin... BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying degrees.Although the same variation locus have been reported,the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder,palmoplantar keratosis,and congenital hypotrichosis.CASE SUMMARY This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED.The proband(IV4)was a male patient with normal sweat gland function and dental development,no skeletal dysplasia,no cognitive disability,and no hearing impairments.His parents were not consanguineously married.Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longit-udinal ridges,in addition to mild bilateral palmoplantar hyperkeratosis.GJB6,GJB2,and GJA1 have been reported to be the causative genes of HED;therefore,we subjected the patient’s samples to Sanger sequencing of these three genes.In this family,the variation locus was at GJB6(c.31G>A,p.Gly11Arg).Overex-pression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models,and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot,respectively.CONCLUSION We report another HED phenotype associated with GJB6 variations,which can help clinicians to diagnose HED despite its varying presentations. 展开更多
关键词 Hidrotic ectodermal dysplasia GJB6 CONNEXIN Gene sequencing Cell transfection Case report
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Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome
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作者 Hong-Yang Zhang Chun-Yan Zhang +8 位作者 Fei Wang Hai Tao Ya-Ping Tian Xi-Bin Zhou Fang Bai Peng Wang Jia-Yi Cui Min-Jie Zhang Li-Hua Wang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2023年第4期499-504,共6页
AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundatio... AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.METHODS:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all participants.The family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was extracted.Pathogenic genes were screened via whole exome sequencing(WES)and confirmed using Sanger sequencing.RESULTS:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb deformities.This pattern indicates autosomal dominant inheritance.Diagnosis was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(p.Trp79Leus*15),was identified in all patients via WES.The variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation guidelines.CONCLUSION:A novel frameshift mutation in the FGF10 gene is found in all patients.This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene. 展开更多
关键词 FGF10 gene frameshift mutation congenital lacrimal duct dysplasia LADD syndrome PEDIGREE
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Application of convolutional neural network-based endoscopic imaging in esophageal cancer or high-grade dysplasia: A systematic review and meta-analysis
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作者 Jun-Qi Zhang Jun-Jie Mi Rong Wang 《World Journal of Gastrointestinal Oncology》 SCIE 2023年第11期1998-2016,共19页
BACKGROUND Esophageal cancer is the seventh-most common cancer type worldwide,accounting for 5%of death from malignancy.Development of novel diagnostic techniques has facilitated screening,early detection,and improved... BACKGROUND Esophageal cancer is the seventh-most common cancer type worldwide,accounting for 5%of death from malignancy.Development of novel diagnostic techniques has facilitated screening,early detection,and improved prognosis.Convolutional neural network(CNN)-based image analysis promises great potential for diagnosing and determining the prognosis of esophageal cancer,enabling even early detection of dysplasia.METHODS PubMed,EMBASE,Web of Science and Cochrane Library databases were searched for articles published up to November 30,2022.We evaluated the diagnostic accuracy of using the CNN model with still image-based analysis and with video-based analysis for esophageal cancer or HGD,as well as for the invasion depth of esophageal cancer.The pooled sensitivity,pooled specificity,positive likelihood ratio(PLR),negative likelihood ratio(NLR),diagnostic odds ratio(DOR)and area under the curve(AUC)were estimated,together with the 95%confidence intervals(CI).A bivariate method and hierarchical summary receiver operating characteristic method were used to calculate the diagnostic test accuracy of the CNN model.Meta-regression and subgroup analyses were used to identify sources of hetero-geneity.RESULTS A total of 28 studies were included in this systematic review and meta-analysis.Using still image-based analysis for the diagnosis of esophageal cancer or HGD provided a pooled sensitivity of 0.95(95%CI:0.92-0.97),pooled specificity of 0.92(0.89-0.94),PLR of 11.5(8.3-16.0),NLR of 0.06(0.04-0.09),DOR of 205(115-365),and AUC of 0.98(0.96-0.99).When video-based analysis was used,a pooled sensitivity of 0.85(0.77-0.91),pooled specificity of 0.73(0.59-0.83),PLR of 3.1(1.9-5.0),NLR of 0.20(0.12-0.34),DOR of 15(6-38)and AUC of 0.87(0.84-0.90)were found.Prediction of invasion depth resulted in a pooled sensitivity of 0.90(0.87-0.92),pooled specificity of 0.83(95%CI:0.76-0.88),PLR of 7.8(1.9-32.0),NLR of 0.10(0.41-0.25),DOR of 118(11-1305),and AUC of 0.95(0.92-0.96).CONCLUSION CNN-based image analysis in diagnosing esophageal cancer and HGD is an excellent diagnostic method with high sensitivity and specificity that merits further investigation in large,multicenter clinical trials. 展开更多
关键词 Esophageal cancer High-grade dysplasia Convolutional neural network Deep learning Systematic review META-ANALYSIS
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Surgery for fibrous dysplasia associated with aneurysmal-bone-cystlike changes in right proximal femur:A case report
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作者 Lun-Li Xie Xiao Yuan +1 位作者 Hong-Xia Zhu Dan Pu 《World Journal of Clinical Cases》 SCIE 2023年第26期6170-6175,共6页
BACKGROUND Fibrous dysplasia associated with aneurysmal bone cyst(ABC)-like changes in the right proximal femur has a low incidence.It is considered more difficult to make early diagnosis than for single fibrous dyspl... BACKGROUND Fibrous dysplasia associated with aneurysmal bone cyst(ABC)-like changes in the right proximal femur has a low incidence.It is considered more difficult to make early diagnosis than for single fibrous dysplasia.CASE SUMMARY A 14-year-old woman was admitted because of persistent pain in the right hip and abnormal gait over the previous 2 mo.She had no history of present or past illness.Preoperative photography,enhanced computed tomography,and magnetic resonance imaging showed ground-glass appearance with cortical scalloping and expansion of the right proximal femur and femoral neck.Pathological examination by preoperative puncture biopsy revealed fibrous dysplasia of the right proximal femur.The patient was diagnosed with fibrous dysplasia based on medical history,physical examination,and results of laboratory,imaging and pathological examinations.According to final pathological examination,the patient was diagnosed with fibrous dysplasia of the right proximal femur associated with ABC.Curettage and allograft along with fixation of compression screws was performed for fibrous dysplasia associated with ABClike changes.No obvious allograft absorption,loosening of fixation,or secondary fracture were observed during 6-months’follow-up with re-examination by plain radiography and computed tomography.Fibrous dysplasia associated with ABClike changes in the right proximal femur has a low incidence and early diagnosis is considered more difficult than for single fibrous dysplasia.CONCLUSION We report a cases of fibrous dysplasia associated with ABC-like changes in the right proximal femur treated with curettage and allograft along with hip compression screws. 展开更多
关键词 Fibrous dysplasia Aneurysmal bone cyst CURETTAGE ALLOGRAFT Hip compression screws Case report
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Fibula allograft transplantation combined with locking plate for treatment of recurrent monostotic fibular fibrous dysplasia:A case report
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作者 Lun-Li Xie Xiao Yuan +2 位作者 Hong-Xia Zhu Lei Fu Dan Pu 《World Journal of Clinical Cases》 SCIE 2023年第33期8050-8057,共8页
BACKGROUND Fibrous dysplasia is a congenital disorder in which normal bone is replaced by fibro-osseous tissue or irregular trabeculae of woven bone intermixed with mature collagenous tissue.A single or multiple bones... BACKGROUND Fibrous dysplasia is a congenital disorder in which normal bone is replaced by fibro-osseous tissue or irregular trabeculae of woven bone intermixed with mature collagenous tissue.A single or multiple bones are affected.This rare bone disorder has three clinical patterns including monostotic,polyostotic,and that associated with McCune-Albright syndrome.Most studies report primary fibrous dysplasia.However,a few cases of recurrent monostotic fibular fibrous dysplasia have been reported.Here,we report a therapeutic strategy for recurrent fibular fibrous dysplasia.CASE SUMMARY A 4-year-old boy was admitted for persistent pain in the left lower limb and abnormal gait over the previous 9 mo.He had no history of present or past illness.Preoperative imaging data showed erosion-like changes with bone expansion of the left middle and lower fibular segment.Tumor tissue in the fibular bone marrow cavity was removed by curettage,and rapid intraoperative pathological examination suggested fibular fibrous dysplasia.An allograft was implanted into the fibular medullary cavity.However,he was readmitted with clinical symptoms including persistent pain,abnormal gait,and local swelling at the age of 6 years.He was diagnosed with recurrent fibular fibrous dysplasia based on the second medical examination.He underwent fibular bone tumor radical resection and longus fibular allograft transplantation combined with fibular bone locking plate and screws.Good host bone to allogenic bone graft fusion was observed by the physician on postoperative regular follow-up.CONCLUSION Radical resection of fibrous dysplasia and longus fibula allograft combined with internal fixation for reconstruction are suitable for the treatment of recurrent monostotic fibular fibrous dysplasia. 展开更多
关键词 Recurrent fibrous dysplasia Longus fibula allograft Bone fusion Case report
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Significance of dysplasia in bile duct resection margin in patients with extrahepatic cholangiocarcinoma:A retrospective analysis
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作者 Jung Wan Choe Hyo Jung Kim Jae Seon Kim 《World Journal of Clinical Cases》 SCIE 2022年第10期3078-3087,共10页
BACKGROUND Radical resection is the only indicator associated with survival in extrahepatic cholangiocarcinoma(EHCC).However,limited data are available regarding the implications of dysplasia at the resection margin f... BACKGROUND Radical resection is the only indicator associated with survival in extrahepatic cholangiocarcinoma(EHCC).However,limited data are available regarding the implications of dysplasia at the resection margin following surgery.AIM To evaluate the prognostic significance of dysplasia-positive margins in patients diagnosed with EHCC.METHODS We reviewed the records of patients who had undergone surgery for EHCC with curative intent between January 2013 and July 2017.We retrospectively analyzed the clinicopathological data of 116 patients followed for longer than 3 years.The status of resection margin was used to classify patients into negative low-grade dysplasia(LGD)and high-grade dysplasia(HGD)/carcinoma in situ(CIS)categories.RESULTS Based on postoperative status,72 patients underwent resection with negative margins,19 had LGD-positive margins,and 25 showed HGD/CIS-positive margins.The mean survival rates of the patients with negative margins,LGD margins,and HGD/CIS margins were 49.1±4.5,47.3±6.0,and 20.8±4.4 mo,respectively(P<0.001).No difference in survival was found between groups with LGD margins and negative margins(P=0.56).In the multivariate analysis,age>70 years and HGD/CIS-positive margins were significant independent factors for survival(hazard ratio=1.90 and 2.47,respectively).CONCLUSION HGD/CIS margin in resected EHCC is associated with a poor survival.However,the LGDpositive resection margin is not a significant indicator of survival in patients with EHCC. 展开更多
关键词 dysplasia CHOLANGIOCARCINOMA SURVIVAL Extrahepatic cholangiocarcinoma Low-grade dysplasia High-grade dysplasia
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