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
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
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
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
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
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
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
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
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
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
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
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
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
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
Objective:This study used published studies to assess the survival rate of dental implants placed in patients with bone dysplasia of the maxillofacial region.Material and methods:An electronic search without a specifi...Objective:This study used published studies to assess the survival rate of dental implants placed in patients with bone dysplasia of the maxillofacial region.Material and methods:An electronic search without a specified date range was performed using the MEDLINE,PubMed,EMBASE,Web of Science,and Cochrane databases.No gender or age restrictions were applied.Results:Eighteen publications were found that met the study’s criteria,reporting data on 18 patients with bone dysplasia including cleidocranial dysplasia(CDD),fibrous dysplasia(FD),florid cemento-osseous dysplasia(FCOD),and odonto-maxillary segmental dysplasia(SOMD),who received a total of 130 implants,an average of 7.2 implants/patient(range 1 to 16).The mean age of the patients was 36.7 years(range 15 to 70 years).For implants placed in bone dysplasia,the survival rates were 100% for patients with CDD(n=8),FD(n=5),SOMD(n=2),FCOD with implants inserted far from the lesions(n=2)and 0% for dental implants inserted within FCOD(n=1).The mean follow-up was 38.2 months(min 6,max 60).Conclusions:Dental implants placed in patients with dysplastic bone lesions show high survival rates,similar to those in the general population for CDD,FD,and SOMD.For FCOD,the failure rate was 100%.展开更多
BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness ...BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness and others.It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities,progressive hepatomegaly and tracheal stenosis.CASE SUMMARY We report on a Chinese 9-year-old girl with GD with the c.5243G>T(p.C1748F)mutation in FBN1(fibrillin 1,OMIM 134797).She was born in Guangxi Zhuang Autonomous Region of China.The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years.Laboratory studies and chest computed tomography(CT)scan indicated bronchopneumonia.Her echocardiography revealed mild mitral valve thickening with regurgitation.Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis.Echocardiography examination displayed mild mitral valve thickening and regurgitation.Ophthalmic examination did not reveal myopia or lens dislocation.Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally,patient’s symptoms had improved.CONCLUSION GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems.This study also found that the identified genotype of GD could be related to different clinical phenotypes.展开更多
There are differences in the diagnoses of superficial gastric lesions between Japan and other countries.In Japan,superficial gastric lesions are classified as adenoma or cancer.Conversely,outside Japan,the same lesion...There are differences in the diagnoses of superficial gastric lesions between Japan and other countries.In Japan,superficial gastric lesions are classified as adenoma or cancer.Conversely,outside Japan,the same lesion is classified as low-grade dysplasia(LGD),high-grade dysplasia,or invasive neoplasia.Gastric carcinogenesis occurs mostly de novo,and the adenoma-carcinoma sequence does not appear to be the main pathway of carcinogenesis.Superficial gastric tumors can be roughly divided into the APC mutation type and the TP53 mutation type,which are mutually exclusive.APC-type tumors have low malignancy and develop into LGD,whereas TP53-type tumors have high malignancy and are considered cancerous even if small.For lesions diagnosed as category 3 or 4 in the Vienna classification,it is desirable to perform complete en bloc resection by endoscopic submucosal dissection followed by staging.If there is lymphovascular or submucosal invasion after mucosal resection,additional surgical treatment of gastrectomy with lymph node dissection is required.In such cases,functionpreserving curative gastrectomy guided by sentinel lymph node biopsy may be a good alternative.展开更多
Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patien...Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation.展开更多
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
Developmental dysplasia of the hip(DDH) describes the spectrum of structural abnormalities that involve the growing hip. Early diagnosis and treatment is critical to provide the best possible functional outcome. Persi...Developmental dysplasia of the hip(DDH) describes the spectrum of structural abnormalities that involve the growing hip. Early diagnosis and treatment is critical to provide the best possible functional outcome. Persistence of hip dysplasia into adolescence and adulthood may result in abnormal gait, decreased strength and increased rate of degenerative hip and knee joint disease. Despite efforts to recognize and treat all cases of DDH soon after birth, diagnosis is delayed in some children, and outcomes deteriorate with increasing delay of presentation. Different screening programs for DDH were implicated. The suspicion is raised based on a physical examination soon after birth. Radiography and ultrasonography are used to confirm the diagnosis. The role of other imaging modalities, such as magnetic resonance imaging, is still undetermined; however, extensive research is underway on this subject. Treatment depends on the age of the patient and the reducibility of the hip joint. At an early age and up to 6 mo, the main treatment is an abduction brace like the Pavlik harness. If this fails, closed reduction and spica casting is usually done. After the age of 18 mo, treatment usually consists of open reduction and hip reconstruction surgery. Various treatment protocols have been proposed. We summarize the current practice for detection and treatment of DDH, emphasizing updates in screening and treatment during the last two decades.展开更多
基金This work was supported by the Intramural Research Program of the NIDCR,NICHDClinical Center,National Institutes of Health.The clinical trial NCT03571191 was conducted as an investigator-sponsored study supported by Amgen,Inc+1 种基金This research was supported in part by the NIDCR Genomics and Computational Biology Core:ZIC DC000086Veterinary Resources Core:ZIC DE000740-05.Work in the MTC and LVC laboratories was supported by the Research on Women’s Health(ORWH)through the Bench to Bedside Program award#884515.
文摘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.
文摘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.
基金National Natural Science Foundation of China,No.81974354 and No.82230083.
文摘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.
文摘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.
基金Supported by Scientific Research Project of Hunan Education Department,No.21A0054.
文摘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.
基金Supported by the Capital’s Funds for Health Improvement and Research (No.CFH.2020-2Z-5132)。
文摘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.
文摘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.
文摘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.
基金Supported by the Special Program for Science and Technology Cooperation and Exchange of Shanxi,No.202104041101034.
文摘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.
基金The Scientific Program of the Health and Family Planning Commission of Hunan Province,China,No.C20190940The Science and Technology Planning Project of Huaihua,China,NO.2021R3117。
文摘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.
基金The study was reviewed and approved by the Beijing Tsinghua Changgung Hospital Institutional Review Board(approval No.21439-0-02).
文摘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.
基金The Scientific and Technological Innovation Platform of Huaihua,China,No.2022F2701The Science and Technology Planning Project of Huaihua,China,No.2021R3117.
文摘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.
文摘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.
基金Supported by the National Research Foundation of Korea,No. 2019R1C1C1003661
文摘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.
文摘Objective:This study used published studies to assess the survival rate of dental implants placed in patients with bone dysplasia of the maxillofacial region.Material and methods:An electronic search without a specified date range was performed using the MEDLINE,PubMed,EMBASE,Web of Science,and Cochrane databases.No gender or age restrictions were applied.Results:Eighteen publications were found that met the study’s criteria,reporting data on 18 patients with bone dysplasia including cleidocranial dysplasia(CDD),fibrous dysplasia(FD),florid cemento-osseous dysplasia(FCOD),and odonto-maxillary segmental dysplasia(SOMD),who received a total of 130 implants,an average of 7.2 implants/patient(range 1 to 16).The mean age of the patients was 36.7 years(range 15 to 70 years).For implants placed in bone dysplasia,the survival rates were 100% for patients with CDD(n=8),FD(n=5),SOMD(n=2),FCOD with implants inserted far from the lesions(n=2)and 0% for dental implants inserted within FCOD(n=1).The mean follow-up was 38.2 months(min 6,max 60).Conclusions:Dental implants placed in patients with dysplastic bone lesions show high survival rates,similar to those in the general population for CDD,FD,and SOMD.For FCOD,the failure rate was 100%.
文摘BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness and others.It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities,progressive hepatomegaly and tracheal stenosis.CASE SUMMARY We report on a Chinese 9-year-old girl with GD with the c.5243G>T(p.C1748F)mutation in FBN1(fibrillin 1,OMIM 134797).She was born in Guangxi Zhuang Autonomous Region of China.The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years.Laboratory studies and chest computed tomography(CT)scan indicated bronchopneumonia.Her echocardiography revealed mild mitral valve thickening with regurgitation.Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis.Echocardiography examination displayed mild mitral valve thickening and regurgitation.Ophthalmic examination did not reveal myopia or lens dislocation.Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally,patient’s symptoms had improved.CONCLUSION GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems.This study also found that the identified genotype of GD could be related to different clinical phenotypes.
文摘There are differences in the diagnoses of superficial gastric lesions between Japan and other countries.In Japan,superficial gastric lesions are classified as adenoma or cancer.Conversely,outside Japan,the same lesion is classified as low-grade dysplasia(LGD),high-grade dysplasia,or invasive neoplasia.Gastric carcinogenesis occurs mostly de novo,and the adenoma-carcinoma sequence does not appear to be the main pathway of carcinogenesis.Superficial gastric tumors can be roughly divided into the APC mutation type and the TP53 mutation type,which are mutually exclusive.APC-type tumors have low malignancy and develop into LGD,whereas TP53-type tumors have high malignancy and are considered cancerous even if small.For lesions diagnosed as category 3 or 4 in the Vienna classification,it is desirable to perform complete en bloc resection by endoscopic submucosal dissection followed by staging.If there is lymphovascular or submucosal invasion after mucosal resection,additional surgical treatment of gastrectomy with lymph node dissection is required.In such cases,functionpreserving curative gastrectomy guided by sentinel lymph node biopsy may be a good alternative.
基金The authors would like to thank the subjects reported here and Hospital de Clínicas de Porto Alegre Research Fund 12-0467 for supporting this publication.
文摘Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation.
文摘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.
文摘Developmental dysplasia of the hip(DDH) describes the spectrum of structural abnormalities that involve the growing hip. Early diagnosis and treatment is critical to provide the best possible functional outcome. Persistence of hip dysplasia into adolescence and adulthood may result in abnormal gait, decreased strength and increased rate of degenerative hip and knee joint disease. Despite efforts to recognize and treat all cases of DDH soon after birth, diagnosis is delayed in some children, and outcomes deteriorate with increasing delay of presentation. Different screening programs for DDH were implicated. The suspicion is raised based on a physical examination soon after birth. Radiography and ultrasonography are used to confirm the diagnosis. The role of other imaging modalities, such as magnetic resonance imaging, is still undetermined; however, extensive research is underway on this subject. Treatment depends on the age of the patient and the reducibility of the hip joint. At an early age and up to 6 mo, the main treatment is an abduction brace like the Pavlik harness. If this fails, closed reduction and spica casting is usually done. After the age of 18 mo, treatment usually consists of open reduction and hip reconstruction surgery. Various treatment protocols have been proposed. We summarize the current practice for detection and treatment of DDH, emphasizing updates in screening and treatment during the last two decades.
