Cortical malformations,including focal cortical dysplasia type II(FCDII),are a common cause of drug-resistant epilepsy and developmental delay.Consideration of surgery has become the standard of care for those patient...Cortical malformations,including focal cortical dysplasia type II(FCDII),are a common cause of drug-resistant epilepsy and developmental delay.Consideration of surgery has become the standard of care for those patients.However,10%-50% of patients with FCD experience post-surgical relapses[1],and many do not even qualify as surgical candidates.Effective treatments for FCD-associated epilepsy are lacking.展开更多
Skeletal dysplasia includes numerous genetic disorders marked by abnormal bone and cartilage growth,causing various spinal issues.The 2023 nosology identifies 771 distinct dysplasias involving 552 genes,with achondrop...Skeletal dysplasia includes numerous genetic disorders marked by abnormal bone and cartilage growth,causing various spinal issues.The 2023 nosology identifies 771 distinct dysplasias involving 552 genes,with achondroplasia being the most common and significantly affecting the spine.Other disorders include type II collagenopathies,sulphation defects,Filamin B disorders,and osteogenesis imperfecta,presenting with short stature,limb deformities,joint contractures,and spinal abnormalities.Spinal pathology often impacts physeal growth areas,leading to conditions like foramen magnum stenosis,atlantoaxial instability,spinal stenosis,kyphosis,and scoliosis.Non-orthopaedic symptoms can include hearing and vision loss,neurological issues like hydrocephalus,and cardiac abnormalities.The incidence is around 1 in 4000 to 5000 births,with achondroplasia at about 1 in 30000 live births.Advances in genetics and imaging enable prenatal diagnosis,though milder cases may go undetected.Effective management requires a multidisciplinary approach involving various specialists.This review emphasises early diagnosis,continuous monitoring,and comprehensive management of spinal pathology in skeletal dysplasia.In the current article,the authors present a thorough review on spinal conditions associated with skeletal dysplasia,their pathophysiology and management options.展开更多
BACKGROUND Hip dysplasia is a widespread and debilitating musculoskeletal disorder that affects children.Its prevalence varies across different nations.AIM To evaluate the prevalence of developmental hip dysplasia(DDH...BACKGROUND Hip dysplasia is a widespread and debilitating musculoskeletal disorder that affects children.Its prevalence varies across different nations.AIM To evaluate the prevalence of developmental hip dysplasia(DDH)within the pediatric population of Al Jouf province.METHODS From January 2018 to December 2023,children with DDH from all cities of Al Jouf were included in this retrospective cross-sectional study.The disease prevalence was calculated for the entire province as well as for individual cities within the territory.RESULTS The study included 427 patients with DDH with an overall prevalence of 0.50%,or 5.0 per 1000 live births.At the city level,Sakaka had the highest prevalence at 14.2 per 1000 Live births followed by Qurayyat at 2.2 per 1000 live births.In contrast,cities like Suwayr,Abu Ajram,and Meegowa did not show any incidence of DDH.Significant differences were observed in the sociodemographic characteristics,such as age,sex,and nationality,across the different cities(P<0.05).CONCLUSION The prevalence of DDH in the Al Jouf province is high.The data delivers invaluable insights into the epidemiology of DDH in the Al Jouf locality.The findings highlight the need for targeted screening of DDH across the province.展开更多
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
AIM:To describe the clinical manifestations,imaging features and surgical treatments in 5 cases of extraocular muscle(EOM)dysplasia presenting as orbital spaceoccupying lesions(SOL).METHODS:Records from the 5 cases wi...AIM:To describe the clinical manifestations,imaging features and surgical treatments in 5 cases of extraocular muscle(EOM)dysplasia presenting as orbital spaceoccupying lesions(SOL).METHODS:Records from the 5 cases with EOM dysplasia between 2004 and 2016 were retrospectively reviewed and clinical data were recorded including family history,age at onset,age at surgery,visual acuity,cycloplegic refraction,ocular alignment and motility,stereoacuity,exophthalmos,anterior segment and fundus,orbital computed tomography(CT)or magnetic resonance imaging(MRI)scan,surgical methods and final outcomes.RESULTS:All 5 cases(1 male,4 females)were unilateral(3 right,2 left eyes).The average age was 5.4y(range 4-6y)with no family history.Patients had unilateral strabismus(horizontal and vertical),restricted eye movement,and eyelid changes(abnormal fissures,lagophthalmos,and/or entropion)in the affected eye.None had proptosis;1 had 2-mm enophthalmos.Orbital CT/MRI showed irregular,ill-defined masses in EOM.Two anterior orbitotomies and 3 strabismus surgeries were performed,and pathology confirmed EOM dysplasia.After surgery,horizontal deviations,which ranged from exotropia(XT)10 prism diopter(PD)to esotropia(ET)10 PD(average 6 PD),decreased by an average of 18 PD,while vertical deviations,which ranged from 4 PD to 20 PD(mean 9.8 PD),decreased by an average of 23.2 PD.CONCLUSION:SOL from EOM dysplasia is non-familial and typically presenting unilaterally characterized by an irregular,diffusely infiltrating mass within the EOM.EOM involvement causes strabismus,restricted eye movement,eyelid changes,and enophthalmos likely due to cicatricial processes.展开更多
Background:Developmental dysplasia of the hip(DDH)is a prevalent pediatric condition with a multifactorial etiology.Its incidence varies geographically,with notably higher rates observed on the Xizang plateau.This stu...Background:Developmental dysplasia of the hip(DDH)is a prevalent pediatric condition with a multifactorial etiology.Its incidence varies geographically,with notably higher rates observed on the Xizang plateau.This study was performed to evaluate the lipidomics signatures associated with DDH by analyzing plasma samples.Methods:Fifty infants were recruited,including 25 diagnosed with DDH and 25 age-matched healthy controls.In addition to plasma samples,comprehensive laboratory test results and medical records were collected for each participant.An untargeted lipidomics profiling approach was employed to identify distinguishing metabolic signatures.Results:Lipidomics profiles differed significantly between patients with DDH and healthy controls.Several differential metabolites were identified,including triacylglycerol(TAG)(17:0/18:1/20:1),TAG(17:0/17:0/17:0),phosphatidylethanolamine(PE)(10:0/26:4),TAG(17:0/18:0/18:0),TAG(16:0/17:0/22:1),TAG(16:0/18:0/22:0),TAG(17:0/19:0/19:0),TAG(13:0/20:0/20:0),TAG(18:0/18:0/22:0),and TAG(16:0/20:0/20:0).The primary lipid species showing differences were TAGs and PE.Conclusions:Distinct shifts in lipidomics profiles were observed in infants with DDH.To the best of our knowledge,this study is the first to explore lipidomics signatures in patients with DDH.The combined assessment of TAG(17:0/18:1/20:1)and TAG(17:0/17:0/17:0)may serve as a potential diagnostic tool for DDH.展开更多
BACKGROUND Traditional serrated adenoma(TSA)is a rare and precancerous lesion of colorectal cancer.The clinical and endoscopic differentiations between TSAs without dysplasia or adenocarcinoma(TSAOs)and TSAs with dysp...BACKGROUND Traditional serrated adenoma(TSA)is a rare and precancerous lesion of colorectal cancer.The clinical and endoscopic differentiations between TSAs without dysplasia or adenocarcinoma(TSAOs)and TSAs with dysplasia or adenocarcinoma(TSADs)remain unclear.AIM To evaluate the characteristics of colorectal TSAs and compare the characteristics of TSAOs with those of TSADs.METHODS This retrospective study included 193 patients who underwent endoscopic resection and received a pathologic diagnosis of TSA.We reviewed the medical,endoscopic,and histopathologic records of patients who underwent endoscopic resection of TSAs between January 2010 and December 2023.RESULTS TSAs were more frequently located in the rectosigmoid colon.Most TSAs had 0-Ip,0-Isp,or 0-Is morphologies.The TSAD lesions were larger than TSAO lesions.TSAD lesions more commonly had a red color and an irregular border than TSAO lesions.TSAOs were usually treated using conventional endoscopic mucosal resection,whereas TSADs were treated using conventional endoscopic mucosal resection,endoscopic submucosal dissection,and surgery.Post-polypectomy bleeding was more common with TSADs than with TSAOs.Univariate analysis showed that gastrointestinal bleeding,red color,0-IIa,irregular border,and lobular mucosal surface were significantly associated with TSADs.Multivariate analysis showed that gastrointestinal bleeding,an irregular border,and a lobular mucosal surface were significantly associated with TSADs.CONCLUSION TSAs with gastrointestinal bleeding,an irregular border,and a lobular mucosal surface are associated with an increased risk of dysplasia or adenocarcinoma.展开更多
The aim of this study is to analyze factors influencing the development of bronchopulmonary dysplasia(BPD)within 28 d after birth in very-low-birth-weight(VLBW)infants with a gestational age of less than 34 weeks who ...The aim of this study is to analyze factors influencing the development of bronchopulmonary dysplasia(BPD)within 28 d after birth in very-low-birth-weight(VLBW)infants with a gestational age of less than 34 weeks who were receiving early parenteral nutrition.Data were retrospectively collected from infants born between January and December 2021,who were admitted to the neonatal intensive care unit within 24 h of birth,had a gestational age of less than 34 weeks,and were classified as VLBW.The study included 14 cases without BPD and 20 cases with BPD,and it compared clinical data during hospitalization between these two groups.On the 1st day of life,the BPD group had a nitrogen-to-calorie ratio of 105.44±26.67,while the non-BPD group had a ratio of 146.81±37.04.This difference was statistically significant,with a P-value of 0.04,indicating a potential association between the nitrogen-to-calorie ratio and the development of BPD.However,no significant differences were observed in other clinical indicators between the two groups.These findings suggested that a larger sample size was needed to further explore and confirm the correlation between the nitrogen-to-calorie ratio and the risk of developing BPD in this population.展开更多
Gain-of-function mutations in fibroblast growth factor receptor(FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, ...Gain-of-function mutations in fibroblast growth factor receptor(FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and Fgfr3- activating mutations on mandibular bone formation and endochondral bone repair after non-stabilized mandibular fractures in mouse models of Crouzon syndrome(Crz) and hypochondroplasia(Hch).展开更多
BACKGROUND Dysplasia surveillance in inflammatory bowel disease(IBD)has evolved significantly with the adoption of advanced endoscopic technologies.AIM To synthesize evidence on image-enhanced endoscopy techniques,bio...BACKGROUND Dysplasia surveillance in inflammatory bowel disease(IBD)has evolved significantly with the adoption of advanced endoscopic technologies.AIM To synthesize evidence on image-enhanced endoscopy techniques,biopsy protocols,and surveillance practices optimizing dysplasia detection in IBD.METHODS A scoping review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.A comprehensive search of PubMed and EMBASE from inception to June 2025 identified studies reporting on endoscopic dysplasia detection or characterization in IBD.Forty-five studies were included for qualitative synthesis,covering dye-based chromoendoscopy(DCE),virtual chromoendoscopy(VCE),confocal laser endomicroscopy,artificial intelligence-based tools,and panoramic endoscopy.RESULTS DCE consistently demonstrated high dysplasia detection rates,especially when indigo carmine was used,and enabled accurate pit-pattern-based lesion characterization.High definition(HD)DCE may offer procedural benefits over HD white light endoscopy(WLE),though superiority in dysplasia detection remains inconsistent across studies.In comparative studies,DCE outperformed or matched white-light approaches,with higher dysplasia yield in selected trials(e.g.,9.7%vs 1.9%,P=0.004),while HD WLE with segmental re-inspection was non-inferior to DCE in expert settings.Virtual chromoendoscopy modalities such as i-SCAN and narrow band imaging showed comparable performance to DCE in several trials,with artificial intelligence-assisted computer-aided detection systems demonstrating equivalent sensitivity but lower specificity.Studies comparing biopsy protocols revealed that targeted biopsies under imageenhanced endoscopy,particularly DCE,were generally superior or equivalent to random biopsies,with random sampling offering marginal benefit in select high-risk subgroups.Multimodal imaging and panoramic endoscopy further improved dysplasia yield in challenging cases.Cost-effectiveness analyses favored DCE over WLE,and long-term surveillance data confirmed declining colorectal cancer rates with high-quality endoscopic programs.However,real-world practice audits revealed substantial variation in surveillance quality and guideline adherence.CONCLUSION Image-enhanced targeted surveillance-particularly using DCE or validated virtual platforms-has improved dysplasia detection in IBD and may allow for a reduction in random biopsies.Despite technological advancements,major quality gaps and interobserver variability persist in clinical practice.Standardized training,quality benchmarks,and cost-effective implementation of advanced endoscopic techniques are needed to optimize colorectal cancer prevention in IBD.展开更多
Fetal skeletal dysplasia(FSD)encompasses diverse clinical features and complicates prenatal diagnosis and perinatal care.In this retrospective study,we integrate prenatal deep phenotyping with exome or genome sequenci...Fetal skeletal dysplasia(FSD)encompasses diverse clinical features and complicates prenatal diagnosis and perinatal care.In this retrospective study,we integrate prenatal deep phenotyping with exome or genome sequencing(ES/GS)to elucidate comprehensive genotype and phenotype landscapes,diagnostic outcomes,genotype-phenotype correlations,and postnatal follow-up findings and to refine genetic counseling and clinical decision-making.The study includes a cohort of 152 fetuses with FSD in China.All fetuses undergo prenatal deep phenotyping followed by ES/GS analysis.Prenatal deep phenotyping enables classification into isolated and non-isolated FSD groups and identifies previously unrecognized prenatal features associated with KBG syndrome and Segawa syndrome.Among skeletal anomalies,limb bone anomalies are the most common(72.4%).Genetic testing yields positive diagnoses in 88 fetuses(57.9%).Notably,fetuses with cranial and limb bone abnormalities demonstrate a higher diagnostic yield.Comparative analysis of prenatal and postnatal genotypes and phenotypes in individuals harboring pathogenic variants in four hotspot genes provides a deeper understanding of skeletal dysplasia phenotypes.Genetic findings from this cohort directly inform reproductive decisions in 16 subsequent pregnancies.Our findings significantly enhance genotype-phenotype correlations and contribute to improved prenatal counseling,informed clinical decision-making,and optimized perinatal care,and advance precision medicine strategies for FSD-affected families.展开更多
BACKGROUND Endoscopic submucosal dissection(ESD)is increasingly used to treat gastric dysplasia and early neoplasia in the West.Unlike Eastern countries,data for Caucasian patients in the United Kingdom is limited due...BACKGROUND Endoscopic submucosal dissection(ESD)is increasingly used to treat gastric dysplasia and early neoplasia in the West.Unlike Eastern countries,data for Caucasian patients in the United Kingdom is limited due to its limited implementation in a few tertiary centres.AIM To evaluate the outcomes of ESD on gastric dysplasia and neoplasia in Caucasian patients.METHODS Our ten-year retrospective study at a single tertiary centre included data spanning from May 2012 to July 2023.The efficacy of ESD on gastric dysplasia and early neoplasia was measured using parameters set out by the National Institute for Health and Care Excellence,which include en-bloc and curative resection(CR)rates,local recurrence and survival rates.RESULTS ESD was attempted on 111 lesions in 93 patients.95.0%of completed procedures achieved endoscopic clearance.74.3%were en-bloc resections and the rest were hybrid ESD with piecemeal resections.In all,34.7%achieved histological CR.Overall,disease recurrence was 10.9%at latest follow-up(63 months,median follow-up).Importantly 100%of lesions in the CR group showed no disease recurrence at subsequent and latest follow-up.In the Indeterminate and Non-CR group,18.8%of lesions showed disease recurrence at subsequent endoscopic follow-ups.ESD changed the histological staging of 44.5%of lesions.Immediate complications were observed in 9.9%of all ESD procedures.The median survival time was 69 months post-ESD.The mean age at death is 82.2 years old.CONCLUSION The study affirms the long-term efficacy and safety of ESD for gastric dysplasia and early neoplasia in Caucasian patients.展开更多
Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of lo...Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood.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 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
AIM: To investigate the differences in biological features of gastric dysplasia (Dys), indefinite dysplasia (IDys) and reactive hyperplasia (RH) by studying the biomarker alterations in cell proliferation, cell differ...AIM: To investigate the differences in biological features of gastric dysplasia (Dys), indefinite dysplasia (IDys) and reactive hyperplasia (RH) by studying the biomarker alterations in cell proliferation, cell differentiation, cell cycle control and the expression of house-keeping genes, and further to search for markers which could be used in guiding the pathological diagnosis of three lesions. METHODS: Expressions of MUC5AC, MUC6, adenomatous polyposis coli (APC), p53, Ki-67, proliferation cell nuclear antigen (PCNA) and EGFR were studied by immunohistochemistry with a standard Envision technique in formalinfixed and paraffin-embedded specimens from 43 RH, 35 IDys, 35 Dys and 36 intestinal type gastric carcinomas (IGC). In addition, Bayes discriminant analysis was used to investigate the value of markers studied in differential diagnosis of RH, IDys, Dys and IGC. RESULTS: The MUC5AC and MUC6 antigen expressions in RH, IDys, Dys and IGC decreased gradually (MUC5AC:86.04%, 77.14%, 28.57%, 6.67%; MUC6: 65.15%, 54.29%, 20.00%, 25.00%, respectively). The expressions of the two markers had no significant difference between RH and IDys, but were all significantly higher than those ofthe other two lesions (MUC5AC: x2 = 27.607, 38.027 and 17.33, 26.092; MUC6: x2= 16.54, 12.665 and 9.282, 6.737, P＜0.01). There was no significant differencebetween RH and IDys, Dys and IGC in MUC6 expression. The APC gene expression in the four lesions had a similar decreasing tendency (RH 69.76%, IDys 68.57%, Dys39.39%, IGC 22.86%), and it was significantly higher in the first two lesions than in the last two (x2 = 7.011,16.995 and 14.737, 19.817, P＜0.05). The p53 expressionin RH, IDys, Dys and IGC was 6.98%, 20%, 57.14% and 50%, respectively. There was no significant differencebetween RH and IDys or Dys and IGC, but the p53 expression in RH and IDys was significantly lower than that in Dys and IGC (x2 = 7.011, 16.995 and 14.737, 19.817, P＜0.01).The Ki-67 label index was significantly different among four lesions (RH: 0.298±8.92%, IDys: 0.358±9.25%,Dys: 0.498±9.03%, IGC: 0.620±10.8%, P＜0.001). Positive immunostaining of PCNA was though observed in all specimens, significant differences were detected among four lesions (F= 95.318, P＜0.01). In addition, we used Bayes discriminant analysis to investigate molecular pathological classification of the lesions, and obtained the best result with the combination of MUC5AC, Ki-67 and PCNA. The overall rate of correct classification was67.4% (RH), 68.6% (IDys), 70.6% (Dys) and 84.8% (IGC), respectively.CONCLUSION: Dys has neoplastic biological characteristics, while RH and IDys display hyperplastic characteristics. MUC5AC and proliferation-related biomarkers (Ki-67, PCNA) are more specific in distinguishing Dys from RH and IDys.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
AIM To evaluate annual incidence of low grade dysplasia(LGD) progression to high grade dysplasia(HGD) and/or esophageal adenocarcinoma(EAC) when diagnosis was made by two or more expert pathologists.METHODS Studies ev...AIM To evaluate annual incidence of low grade dysplasia(LGD) progression to high grade dysplasia(HGD) and/or esophageal adenocarcinoma(EAC) when diagnosis was made by two or more expert pathologists.METHODS Studies evaluating the progression of LGD to HGD or EAC were included. The diagnosis of LGD must be made by consensus of two or more expert gastrointestinal pathologists. Articles were searched in Medline, Pubmed, and Embase. Pooled proportions were calculated using fixed and random effects model. Heterogeneity among studies was assessed using the I2 statistic. RESULTS Initial search identified 721 reference articles, of which 53 were selected and reviewed. Twelve studies(n = 971) that met the inclusion criteria were included in this analysis. Among the total original LGD diagnoses in the included studies, only 37.49% reached the consensus LGD diagnosis after review by two or more expert pathologists. Total follow up period was 1532 patient-years. In the pooled consensus LGD patients, the annual incidence rate(AIR) of progression to HGD and or EAC was 10.35%(95%CI: 7.56-13.13) and progression to EAC was 5.18%(95%CI: 3.43-6.92). Among the patients down staged from original LGD diagnosis to No-dysplasia Barrett's esophagus, the AIR of progression to HGD and EAC was 0.65%(95%CI: 0.49-0.80). Among the patients down staged to Indefinite for dysplasia, the AIR of progression to HGD and EAC was 1.42%(95%CI: 1.19-1.65). In patients with consensus HGD diagnosis, the AIR of progression to EAC was 28.63%(95%CI: 13.98-43.27). CONCLUSION When LGD is diagnosed by consensus agreement of two or more expert pathologists, its progression towards malignancy seems to be at least three times the current estimates, however it could be up to 20 times the current estimates. Biopsies of all Barrett's esophagus patients with LGD should be reviewed by two expert gastroenterology pathologists. Follow-up strict surveillance programs should be in place for these patients.展开更多
基金supported by the Natural Science Foundation of Zhejiang Province(LQ23H090002)the National Natural Science Foundation of China(82201607).
文摘Cortical malformations,including focal cortical dysplasia type II(FCDII),are a common cause of drug-resistant epilepsy and developmental delay.Consideration of surgery has become the standard of care for those patients.However,10%-50% of patients with FCD experience post-surgical relapses[1],and many do not even qualify as surgical candidates.Effective treatments for FCD-associated epilepsy are lacking.
文摘Skeletal dysplasia includes numerous genetic disorders marked by abnormal bone and cartilage growth,causing various spinal issues.The 2023 nosology identifies 771 distinct dysplasias involving 552 genes,with achondroplasia being the most common and significantly affecting the spine.Other disorders include type II collagenopathies,sulphation defects,Filamin B disorders,and osteogenesis imperfecta,presenting with short stature,limb deformities,joint contractures,and spinal abnormalities.Spinal pathology often impacts physeal growth areas,leading to conditions like foramen magnum stenosis,atlantoaxial instability,spinal stenosis,kyphosis,and scoliosis.Non-orthopaedic symptoms can include hearing and vision loss,neurological issues like hydrocephalus,and cardiac abnormalities.The incidence is around 1 in 4000 to 5000 births,with achondroplasia at about 1 in 30000 live births.Advances in genetics and imaging enable prenatal diagnosis,though milder cases may go undetected.Effective management requires a multidisciplinary approach involving various specialists.This review emphasises early diagnosis,continuous monitoring,and comprehensive management of spinal pathology in skeletal dysplasia.In the current article,the authors present a thorough review on spinal conditions associated with skeletal dysplasia,their pathophysiology and management options.
文摘BACKGROUND Hip dysplasia is a widespread and debilitating musculoskeletal disorder that affects children.Its prevalence varies across different nations.AIM To evaluate the prevalence of developmental hip dysplasia(DDH)within the pediatric population of Al Jouf province.METHODS From January 2018 to December 2023,children with DDH from all cities of Al Jouf were included in this retrospective cross-sectional study.The disease prevalence was calculated for the entire province as well as for individual cities within the territory.RESULTS The study included 427 patients with DDH with an overall prevalence of 0.50%,or 5.0 per 1000 live births.At the city level,Sakaka had the highest prevalence at 14.2 per 1000 Live births followed by Qurayyat at 2.2 per 1000 live births.In contrast,cities like Suwayr,Abu Ajram,and Meegowa did not show any incidence of DDH.Significant differences were observed in the sociodemographic characteristics,such as age,sex,and nationality,across the different cities(P<0.05).CONCLUSION The prevalence of DDH in the Al Jouf province is high.The data delivers invaluable insights into the epidemiology of DDH in the Al Jouf locality.The findings highlight the need for targeted screening of DDH across the province.
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
基金Supported by the National Natural Science Foundation of China(No.81670885).
文摘AIM:To describe the clinical manifestations,imaging features and surgical treatments in 5 cases of extraocular muscle(EOM)dysplasia presenting as orbital spaceoccupying lesions(SOL).METHODS:Records from the 5 cases with EOM dysplasia between 2004 and 2016 were retrospectively reviewed and clinical data were recorded including family history,age at onset,age at surgery,visual acuity,cycloplegic refraction,ocular alignment and motility,stereoacuity,exophthalmos,anterior segment and fundus,orbital computed tomography(CT)or magnetic resonance imaging(MRI)scan,surgical methods and final outcomes.RESULTS:All 5 cases(1 male,4 females)were unilateral(3 right,2 left eyes).The average age was 5.4y(range 4-6y)with no family history.Patients had unilateral strabismus(horizontal and vertical),restricted eye movement,and eyelid changes(abnormal fissures,lagophthalmos,and/or entropion)in the affected eye.None had proptosis;1 had 2-mm enophthalmos.Orbital CT/MRI showed irregular,ill-defined masses in EOM.Two anterior orbitotomies and 3 strabismus surgeries were performed,and pathology confirmed EOM dysplasia.After surgery,horizontal deviations,which ranged from exotropia(XT)10 prism diopter(PD)to esotropia(ET)10 PD(average 6 PD),decreased by an average of 18 PD,while vertical deviations,which ranged from 4 PD to 20 PD(mean 9.8 PD),decreased by an average of 23.2 PD.CONCLUSION:SOL from EOM dysplasia is non-familial and typically presenting unilaterally characterized by an irregular,diffusely infiltrating mass within the EOM.EOM involvement causes strabismus,restricted eye movement,eyelid changes,and enophthalmos likely due to cicatricial processes.
基金graciously funded by the Central Government Guidance Fund for Supporting the Local Science and Technology Development(No.XZ202101YD0002C).
文摘Background:Developmental dysplasia of the hip(DDH)is a prevalent pediatric condition with a multifactorial etiology.Its incidence varies geographically,with notably higher rates observed on the Xizang plateau.This study was performed to evaluate the lipidomics signatures associated with DDH by analyzing plasma samples.Methods:Fifty infants were recruited,including 25 diagnosed with DDH and 25 age-matched healthy controls.In addition to plasma samples,comprehensive laboratory test results and medical records were collected for each participant.An untargeted lipidomics profiling approach was employed to identify distinguishing metabolic signatures.Results:Lipidomics profiles differed significantly between patients with DDH and healthy controls.Several differential metabolites were identified,including triacylglycerol(TAG)(17:0/18:1/20:1),TAG(17:0/17:0/17:0),phosphatidylethanolamine(PE)(10:0/26:4),TAG(17:0/18:0/18:0),TAG(16:0/17:0/22:1),TAG(16:0/18:0/22:0),TAG(17:0/19:0/19:0),TAG(13:0/20:0/20:0),TAG(18:0/18:0/22:0),and TAG(16:0/20:0/20:0).The primary lipid species showing differences were TAGs and PE.Conclusions:Distinct shifts in lipidomics profiles were observed in infants with DDH.To the best of our knowledge,this study is the first to explore lipidomics signatures in patients with DDH.The combined assessment of TAG(17:0/18:1/20:1)and TAG(17:0/17:0/17:0)may serve as a potential diagnostic tool for DDH.
基金Supported by The First Research in Lifetime Grant from Chonnam National University Hospital Biomedical Research Institute,No.HCRI23005。
文摘BACKGROUND Traditional serrated adenoma(TSA)is a rare and precancerous lesion of colorectal cancer.The clinical and endoscopic differentiations between TSAs without dysplasia or adenocarcinoma(TSAOs)and TSAs with dysplasia or adenocarcinoma(TSADs)remain unclear.AIM To evaluate the characteristics of colorectal TSAs and compare the characteristics of TSAOs with those of TSADs.METHODS This retrospective study included 193 patients who underwent endoscopic resection and received a pathologic diagnosis of TSA.We reviewed the medical,endoscopic,and histopathologic records of patients who underwent endoscopic resection of TSAs between January 2010 and December 2023.RESULTS TSAs were more frequently located in the rectosigmoid colon.Most TSAs had 0-Ip,0-Isp,or 0-Is morphologies.The TSAD lesions were larger than TSAO lesions.TSAD lesions more commonly had a red color and an irregular border than TSAO lesions.TSAOs were usually treated using conventional endoscopic mucosal resection,whereas TSADs were treated using conventional endoscopic mucosal resection,endoscopic submucosal dissection,and surgery.Post-polypectomy bleeding was more common with TSADs than with TSAOs.Univariate analysis showed that gastrointestinal bleeding,red color,0-IIa,irregular border,and lobular mucosal surface were significantly associated with TSADs.Multivariate analysis showed that gastrointestinal bleeding,an irregular border,and a lobular mucosal surface were significantly associated with TSADs.CONCLUSION TSAs with gastrointestinal bleeding,an irregular border,and a lobular mucosal surface are associated with an increased risk of dysplasia or adenocarcinoma.
基金Science and Technology Program Project of Jiangxi Provincial Health Commission(Grant No.202210200).
文摘The aim of this study is to analyze factors influencing the development of bronchopulmonary dysplasia(BPD)within 28 d after birth in very-low-birth-weight(VLBW)infants with a gestational age of less than 34 weeks who were receiving early parenteral nutrition.Data were retrospectively collected from infants born between January and December 2021,who were admitted to the neonatal intensive care unit within 24 h of birth,had a gestational age of less than 34 weeks,and were classified as VLBW.The study included 14 cases without BPD and 20 cases with BPD,and it compared clinical data during hospitalization between these two groups.On the 1st day of life,the BPD group had a nitrogen-to-calorie ratio of 105.44±26.67,while the non-BPD group had a ratio of 146.81±37.04.This difference was statistically significant,with a P-value of 0.04,indicating a potential association between the nitrogen-to-calorie ratio and the development of BPD.However,no significant differences were observed in other clinical indicators between the two groups.These findings suggested that a larger sample size was needed to further explore and confirm the correlation between the nitrogen-to-calorie ratio and the risk of developing BPD in this population.
基金National Research Agency under the Investments for the Future program (ANR-10-IAHU-01)Filière Nationale TeteCou for financial support。
文摘Gain-of-function mutations in fibroblast growth factor receptor(FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and Fgfr3- activating mutations on mandibular bone formation and endochondral bone repair after non-stabilized mandibular fractures in mouse models of Crouzon syndrome(Crz) and hypochondroplasia(Hch).
文摘BACKGROUND Dysplasia surveillance in inflammatory bowel disease(IBD)has evolved significantly with the adoption of advanced endoscopic technologies.AIM To synthesize evidence on image-enhanced endoscopy techniques,biopsy protocols,and surveillance practices optimizing dysplasia detection in IBD.METHODS A scoping review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.A comprehensive search of PubMed and EMBASE from inception to June 2025 identified studies reporting on endoscopic dysplasia detection or characterization in IBD.Forty-five studies were included for qualitative synthesis,covering dye-based chromoendoscopy(DCE),virtual chromoendoscopy(VCE),confocal laser endomicroscopy,artificial intelligence-based tools,and panoramic endoscopy.RESULTS DCE consistently demonstrated high dysplasia detection rates,especially when indigo carmine was used,and enabled accurate pit-pattern-based lesion characterization.High definition(HD)DCE may offer procedural benefits over HD white light endoscopy(WLE),though superiority in dysplasia detection remains inconsistent across studies.In comparative studies,DCE outperformed or matched white-light approaches,with higher dysplasia yield in selected trials(e.g.,9.7%vs 1.9%,P=0.004),while HD WLE with segmental re-inspection was non-inferior to DCE in expert settings.Virtual chromoendoscopy modalities such as i-SCAN and narrow band imaging showed comparable performance to DCE in several trials,with artificial intelligence-assisted computer-aided detection systems demonstrating equivalent sensitivity but lower specificity.Studies comparing biopsy protocols revealed that targeted biopsies under imageenhanced endoscopy,particularly DCE,were generally superior or equivalent to random biopsies,with random sampling offering marginal benefit in select high-risk subgroups.Multimodal imaging and panoramic endoscopy further improved dysplasia yield in challenging cases.Cost-effectiveness analyses favored DCE over WLE,and long-term surveillance data confirmed declining colorectal cancer rates with high-quality endoscopic programs.However,real-world practice audits revealed substantial variation in surveillance quality and guideline adherence.CONCLUSION Image-enhanced targeted surveillance-particularly using DCE or validated virtual platforms-has improved dysplasia detection in IBD and may allow for a reduction in random biopsies.Despite technological advancements,major quality gaps and interobserver variability persist in clinical practice.Standardized training,quality benchmarks,and cost-effective implementation of advanced endoscopic techniques are needed to optimize colorectal cancer prevention in IBD.
基金the National Key Research and Development Program of China(2022YFC2703100 to S.Z.,2024YFC2707100 for Q.Q.,2022YFC2703901 to Z.W.,2022YFC2703102 to N.W.)National Natural Science Foundation of China(82172525 to G.Q.,82172382 to J.Z.)+2 种基金CAMS Innovation Fund for Medical Sciences(CIFMS,2021-I2M-1-051 to J.Z.and N.W.,2021-I2M-1-052 and 2022-I2M-2-001 to Z.W.,2023-I2M-C&T-A-003 to J.Z.)National High Level Hospital Clinical Research Funding(2022-PUMCH-D-004 to J.Z.and N.W.,2022-PUMCH-C-033 to N.W.,2022-PUMCH-D-002 to Z.W.)Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019PT320025 to N.W.).
文摘Fetal skeletal dysplasia(FSD)encompasses diverse clinical features and complicates prenatal diagnosis and perinatal care.In this retrospective study,we integrate prenatal deep phenotyping with exome or genome sequencing(ES/GS)to elucidate comprehensive genotype and phenotype landscapes,diagnostic outcomes,genotype-phenotype correlations,and postnatal follow-up findings and to refine genetic counseling and clinical decision-making.The study includes a cohort of 152 fetuses with FSD in China.All fetuses undergo prenatal deep phenotyping followed by ES/GS analysis.Prenatal deep phenotyping enables classification into isolated and non-isolated FSD groups and identifies previously unrecognized prenatal features associated with KBG syndrome and Segawa syndrome.Among skeletal anomalies,limb bone anomalies are the most common(72.4%).Genetic testing yields positive diagnoses in 88 fetuses(57.9%).Notably,fetuses with cranial and limb bone abnormalities demonstrate a higher diagnostic yield.Comparative analysis of prenatal and postnatal genotypes and phenotypes in individuals harboring pathogenic variants in four hotspot genes provides a deeper understanding of skeletal dysplasia phenotypes.Genetic findings from this cohort directly inform reproductive decisions in 16 subsequent pregnancies.Our findings significantly enhance genotype-phenotype correlations and contribute to improved prenatal counseling,informed clinical decision-making,and optimized perinatal care,and advance precision medicine strategies for FSD-affected families.
文摘BACKGROUND Endoscopic submucosal dissection(ESD)is increasingly used to treat gastric dysplasia and early neoplasia in the West.Unlike Eastern countries,data for Caucasian patients in the United Kingdom is limited due to its limited implementation in a few tertiary centres.AIM To evaluate the outcomes of ESD on gastric dysplasia and neoplasia in Caucasian patients.METHODS Our ten-year retrospective study at a single tertiary centre included data spanning from May 2012 to July 2023.The efficacy of ESD on gastric dysplasia and early neoplasia was measured using parameters set out by the National Institute for Health and Care Excellence,which include en-bloc and curative resection(CR)rates,local recurrence and survival rates.RESULTS ESD was attempted on 111 lesions in 93 patients.95.0%of completed procedures achieved endoscopic clearance.74.3%were en-bloc resections and the rest were hybrid ESD with piecemeal resections.In all,34.7%achieved histological CR.Overall,disease recurrence was 10.9%at latest follow-up(63 months,median follow-up).Importantly 100%of lesions in the CR group showed no disease recurrence at subsequent and latest follow-up.In the Indeterminate and Non-CR group,18.8%of lesions showed disease recurrence at subsequent endoscopic follow-ups.ESD changed the histological staging of 44.5%of lesions.Immediate complications were observed in 9.9%of all ESD procedures.The median survival time was 69 months post-ESD.The mean age at death is 82.2 years old.CONCLUSION The study affirms the long-term efficacy and safety of ESD for gastric dysplasia and early neoplasia in Caucasian patients.
基金supported by NIH/NIDCR grant R01DE025664 to IPC.
文摘Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood.
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.
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%.
基金Supported by the National Key Fundamental Research Project,No.G1998051203
文摘AIM: To investigate the differences in biological features of gastric dysplasia (Dys), indefinite dysplasia (IDys) and reactive hyperplasia (RH) by studying the biomarker alterations in cell proliferation, cell differentiation, cell cycle control and the expression of house-keeping genes, and further to search for markers which could be used in guiding the pathological diagnosis of three lesions. METHODS: Expressions of MUC5AC, MUC6, adenomatous polyposis coli (APC), p53, Ki-67, proliferation cell nuclear antigen (PCNA) and EGFR were studied by immunohistochemistry with a standard Envision technique in formalinfixed and paraffin-embedded specimens from 43 RH, 35 IDys, 35 Dys and 36 intestinal type gastric carcinomas (IGC). In addition, Bayes discriminant analysis was used to investigate the value of markers studied in differential diagnosis of RH, IDys, Dys and IGC. RESULTS: The MUC5AC and MUC6 antigen expressions in RH, IDys, Dys and IGC decreased gradually (MUC5AC:86.04%, 77.14%, 28.57%, 6.67%; MUC6: 65.15%, 54.29%, 20.00%, 25.00%, respectively). The expressions of the two markers had no significant difference between RH and IDys, but were all significantly higher than those ofthe other two lesions (MUC5AC: x2 = 27.607, 38.027 and 17.33, 26.092; MUC6: x2= 16.54, 12.665 and 9.282, 6.737, P＜0.01). There was no significant differencebetween RH and IDys, Dys and IGC in MUC6 expression. The APC gene expression in the four lesions had a similar decreasing tendency (RH 69.76%, IDys 68.57%, Dys39.39%, IGC 22.86%), and it was significantly higher in the first two lesions than in the last two (x2 = 7.011,16.995 and 14.737, 19.817, P＜0.05). The p53 expressionin RH, IDys, Dys and IGC was 6.98%, 20%, 57.14% and 50%, respectively. There was no significant differencebetween RH and IDys or Dys and IGC, but the p53 expression in RH and IDys was significantly lower than that in Dys and IGC (x2 = 7.011, 16.995 and 14.737, 19.817, P＜0.01).The Ki-67 label index was significantly different among four lesions (RH: 0.298±8.92%, IDys: 0.358±9.25%,Dys: 0.498±9.03%, IGC: 0.620±10.8%, P＜0.001). Positive immunostaining of PCNA was though observed in all specimens, significant differences were detected among four lesions (F= 95.318, P＜0.01). In addition, we used Bayes discriminant analysis to investigate molecular pathological classification of the lesions, and obtained the best result with the combination of MUC5AC, Ki-67 and PCNA. The overall rate of correct classification was67.4% (RH), 68.6% (IDys), 70.6% (Dys) and 84.8% (IGC), respectively.CONCLUSION: Dys has neoplastic biological characteristics, while RH and IDys display hyperplastic characteristics. MUC5AC and proliferation-related biomarkers (Ki-67, PCNA) are more specific in distinguishing Dys from RH and IDys.
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.
文摘AIM To evaluate annual incidence of low grade dysplasia(LGD) progression to high grade dysplasia(HGD) and/or esophageal adenocarcinoma(EAC) when diagnosis was made by two or more expert pathologists.METHODS Studies evaluating the progression of LGD to HGD or EAC were included. The diagnosis of LGD must be made by consensus of two or more expert gastrointestinal pathologists. Articles were searched in Medline, Pubmed, and Embase. Pooled proportions were calculated using fixed and random effects model. Heterogeneity among studies was assessed using the I2 statistic. RESULTS Initial search identified 721 reference articles, of which 53 were selected and reviewed. Twelve studies(n = 971) that met the inclusion criteria were included in this analysis. Among the total original LGD diagnoses in the included studies, only 37.49% reached the consensus LGD diagnosis after review by two or more expert pathologists. Total follow up period was 1532 patient-years. In the pooled consensus LGD patients, the annual incidence rate(AIR) of progression to HGD and or EAC was 10.35%(95%CI: 7.56-13.13) and progression to EAC was 5.18%(95%CI: 3.43-6.92). Among the patients down staged from original LGD diagnosis to No-dysplasia Barrett's esophagus, the AIR of progression to HGD and EAC was 0.65%(95%CI: 0.49-0.80). Among the patients down staged to Indefinite for dysplasia, the AIR of progression to HGD and EAC was 1.42%(95%CI: 1.19-1.65). In patients with consensus HGD diagnosis, the AIR of progression to EAC was 28.63%(95%CI: 13.98-43.27). CONCLUSION When LGD is diagnosed by consensus agreement of two or more expert pathologists, its progression towards malignancy seems to be at least three times the current estimates, however it could be up to 20 times the current estimates. Biopsies of all Barrett's esophagus patients with LGD should be reviewed by two expert gastroenterology pathologists. Follow-up strict surveillance programs should be in place for these patients.
