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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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Focal cemento-osseous dysplasia: a case report and literature review
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作者 Duygu Yazicioglu Aysegul Mine Tuzuner-Oncul +1 位作者 Cahit Ucok Omur Dereci 《Health》 2010年第8期941-944,共4页
Objective and Case Report: In this report a female patient with the lesion diagnosed as focal semento-osseous dysplasia by histolog- ical and radiological examination on the left mandibular molar region is presented a... Objective and Case Report: In this report a female patient with the lesion diagnosed as focal semento-osseous dysplasia by histolog- ical and radiological examination on the left mandibular molar region is presented and these focal semento-osseous dysplasia lesions are reviewed according to the literature. Conclusion: Histological and radiographic examination is significant for the differential diagnosis of FCOD. Its solid nature and posterior localization ease the differential diagnosis. The treatment includes long term follow-up for asymptomatic lesions or surgical excision if a dental implant rehabilitation is planned for the affected partial edentulous region of jaw, as seen in this case. 展开更多
关键词 ORAL PATHOLOGY FOCAL Semento-Osseous dysplasia
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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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Implant Placement in a Cemento-Osseous Dysplasia:A case report
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作者 Alexandre Perez Avigail Maman +1 位作者 Edouard Di Donna Tommaso Lombardi 《Discussion of Clinical Cases》 2021年第2期6-10,共5页
We present a 45-year-old black woman diagnosed with a florid cemento-osseous dysplasia(FCOD)affecting the right lower quadrant and the anterior mandibular region.The patient requested dental implants to rehabilitate t... We present a 45-year-old black woman diagnosed with a florid cemento-osseous dysplasia(FCOD)affecting the right lower quadrant and the anterior mandibular region.The patient requested dental implants to rehabilitate the edentulous central lower incisors area(teeth#31 and#41)corresponding to a periapical cemento-osseous dysplasia(PCOD).Successful osseointegration of the two implants was obtained using a two-step procedure in order to limit the risk of complications associated with implant placement.Follow-up at one year showed no recurrence and good implant stability.Due to the abnormal quality of the bone in cemento-osseous dysplasia(COD),implant placement is generally avoided,and no other case reports have been reported in the literature in patients affected by PCOD.The present case suggests that in an appropriate clinical setting,implant placement may be a successful procedure. 展开更多
关键词 cemento-osseous dysplasia Periapical cemento-osseous dysplasia Dental implant
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Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias 被引量:1
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作者 Ananya Panda Shivanand Gamanagatti +1 位作者 Manisha Jana Arun Kumar Gupta 《World Journal of Radiology》 CAS 2014年第10期808-825,共18页
Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complic... Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient. 展开更多
关键词 SKELETAL dysplasia Short limb DWARFISM Rhizomelia Radiograph SKELETAL survey Review Spondylopepiphyseal dysplasia Multiple epiphyseal dysplasia ACHONDROPLASIA Algorithm APPROACH
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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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Morphometrical findings among dysplasias of oral, cervical and bronchial regions
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作者 Kayo Kuyama Takashi Matsumoto +6 位作者 Miyuki Morikawa Akira Fukatsu Mana Ichimura Masanobu Wakami Masahiko Fukumoto Taku Kato Hirotsugu Yamamoto 《Open Journal of Stomatology》 2013年第2期215-222,共8页
The purpose of this study was to compare among dysplasia of oral, uterine cervix and bronchus. Using a computer cytomorphometry cell measurement program, the study was based on a retrospective review of smear cases di... The purpose of this study was to compare among dysplasia of oral, uterine cervix and bronchus. Using a computer cytomorphometry cell measurement program, the study was based on a retrospective review of smear cases diagnosed with dysplasia of oral, bronchial and uterine cervix, from 2002 to 2010. For 50 - 70 cells from each lesion, nuclear (N) and cytoplasm (C) variables were assessed: area (A), diameter (D), irregularity (I), stain brightness and granularity. NA and ND were highest in OSCC and higher according to dysplastic grading. By contrast, CA and CD were lowest in severe dysplasia. The significant difference of N/C ratio was observed among OSCC to inflammation, mild and moderate dysplasias (p < 0.05). The N/C ratios of mild and moderate dysplasias were equal. Brightness and granularity values of OSCC cases were significantly higher than those of another (p < 0.05). About the difference between mild to moderate dysplasias, it was the easiest to detect of the uterine cervix. All severe dysplasias among the 3 regions were easily identified morphometrically. The deficient in the difference between inflammation to mild dysplasia and mild to moderate dysplasia were obtained in the oral mucosal lesion. The results displayed a significant variation in cytomorphometrical values among the 3 regions. N/C values for uterine cervix and bronchus were well distinguished in comparison with oral dysplasias. Screening of mild and moderate dysplasias requires experience which carries out the comprehensive judgment of the color. 展开更多
关键词 EXFOLIATIVE CYTOLOGY dysplasia ORAL Mucosa CERVIX BRONCHUS
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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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Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita:A case report
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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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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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CroweⅢ-Ⅳ型DDH患者全髋关节置换术后不满意及相关因素分析
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作者 赵鹏 李玉军 +1 位作者 窦勇 王达成 《中国骨伤》 CAS CSCD 2024年第4期363-367,共5页
目的:探讨全髋关节置换术的CroweⅢ-Ⅳ型发育性髋关节发育不良(developmental dysplasia of the hip,DDH)患者的满意度及造成不满意的相关因素。方法:回顾性分析2013年3月至2018年3月行全髋关节置换术的169例CroweⅢ-Ⅳ型DDH患者,通过... 目的:探讨全髋关节置换术的CroweⅢ-Ⅳ型发育性髋关节发育不良(developmental dysplasia of the hip,DDH)患者的满意度及造成不满意的相关因素。方法:回顾性分析2013年3月至2018年3月行全髋关节置换术的169例CroweⅢ-Ⅳ型DDH患者,通过微信进行调查问卷,调查患者对手术总体满意度、10项日常功能满意度和患者认为对自己日常生活影响比较大的前5个问题。手术前后采用髋关节Harris评分进行功能评价。结果:收到完整调查问卷145份,所有患者获随访,时间1~5(3.23±1.22)年。145例患者分成两组,其中对手术疗效满意的118例,不满意的27例,手术总体满意率81.38%(118/145)。患者认为对生活影响比较大的前5个问题分别是术后髋部疼痛,肢体明显不等长、行走、上下楼梯、蹲起。两组术前Harris评分比较,差异无统计学意义(P>0.05),不满意组术后Harris评分较低。术后髋关节疼痛、肢体不等长是影响手术不满意的直接因素。结论:采用全髋关节置换术治疗CroweⅢ-Ⅳ型DDH患者手术难度大;术后髋关节疼痛(轻度以上),肢体不等长(>2 cm)是术后不满意的独立危险因素。 展开更多
关键词 高脱位 髋关节发育不良 CroweⅢ-Ⅳ 全髋关节置换 满意度
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