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Endocrine Jun 2023We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases.
PURPOSE
We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases.
METHODS
A 14.8-year-old boy underwent clinical, radiological, and genetic evaluations. The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and summarized. The genotype-phenotype correlation was analyzed.
RESULTS
The proband complained of aggravated joint pain and had a compression fracture of L2 during his second decade. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees. X-rays showed carpal epiphyseal dysplasia, enlargement of elbow and knee joints, and subluxation of the left hip. Echocardiography showed abnormal cardiac valves. Compared with the norm, his total and trabecular volumetric bone mineral density (BMD), and the microarchitecture of the trabecular bone had trends to be worse at the distal radius and tibia. Two novel missense variants of c.1343T>G and c.761C>G in CHST3 were inherited from his father and mother, respectively. In the systematic review, short stature, limited joint extension, joint pain, and joint dislocation were the most common characteristics of this disorder. Height Z score and the proportion of hearing impairment had no significant differences between the missense and nonmissense mutations groups.
CONCLUSION
Progressive joint pain and movement restriction are the main characteristics of CHST3-related skeletal dysplasia. BMD and bone microarchitecture of this disorder needs further exploration. There is no apparent genotype-phenotype correlation in this disorder.
Topics: Humans; Osteochondrodysplasias; East Asian People; Bone Density; Radius; Absorptiometry, Photon
PubMed: 36729370
DOI: 10.1007/s12020-023-03303-z -
Indian Journal of Orthopaedics Jun 2022Cerebral Palsy is the leading cause of childhood physical disability globally. The motor disorders of CP are often associated with musculoskeletal anomalies, of which... (Review)
Review
BACKGROUND
Cerebral Palsy is the leading cause of childhood physical disability globally. The motor disorders of CP are often associated with musculoskeletal anomalies, of which hip displacement is the second most common abnormality after abnormalities of foot and ankle. Various radiological parameters have been described in the literature which detects and quantifies hip dysplasia, with MP being the current gold standard. This study aims to review these radiological indicators of hip dysplasia in children with cerebral palsy from the published literature.
METHODS
A literature search using PubMed, Embase, and Google Scholar was done on 15th June 2021 focusing on surveillance of hip dysplasia in cerebral palsy. The studies to be included were to have used anyone or more radiological parameter for detection of hip dysplasia with the use of any of the radiological methods.
RESULTS
The initial search yielded 1184 results. After the screening of the abstracts and full texts, a final of 30 studies was included for this systematic review. The majority of the studies were graded as Level 3 evidence (16/30), followed by Level 2 studies (14/30). X-ray was the most common modality of detection of dysplasia followed by CT scan, ultrasonography, and arthrogram. The reproducibility of the various parameters shows good to excellent intraclass coefficients.
CONCLUSIONS
Parameters other than MP can be used to screen hips in CP. This would be useful in patients in whom either the lateral acetabular edge is not discernible on a plain anteroposterior radiograph or there are issues in the positioning of the patient. Additional views and structures can be visualized which can lead to improved screening and planning. Further investigations are required to appreciate the full potential of these parameters and how they can be better utilized.
PubMed: 35669024
DOI: 10.1007/s43465-022-00610-x -
Arthroscopy : the Journal of... Apr 2023To evaluate midterm outcomes, long-term outcomes, and survivorship in the borderline dysplastic population after primary hip arthroscopy. (Review)
Review
PURPOSE
To evaluate midterm outcomes, long-term outcomes, and survivorship in the borderline dysplastic population after primary hip arthroscopy.
METHODS
A systematic review of current literature was performed with the following key words: "hip, "arthroscopy," "borderline dysplasia," "borderline hip dysplasia," "developmental dysplasia," "ten-year," "survivorship," "10-year," "5-year," "five year," "mid-term," "long-term," "outcomes," "arthroscopic," and "femoroacetabular impingement" in PubMed, Cochrane, and Scopus in March 2022 using the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. The following information was recorded: title, author, publication date, study design, demographic, number of hips, follow-up time, study period, indications for hip arthroscopy, patient-reported outcomes (PROs), characteristics of patients converting to total hip arthroplasty (THA), and rates of secondary surgeries and conversion to THA were recorded. Survivorship was defined as not converting to THA. Kappa values for the title/abstract and full-text screening were calculated. Forest plots were created for PROs that were included in 3 or more studies.
RESULTS
Six articles comprising 413 hips were included in the study. Three studies were Level III evidence, and 3 studies were Level IV evidence. Average follow-up ranged from 5.7 to 12.2 years. One study defined borderline hip dysplasia as lateral center-edge angle 18-25° and 5 defined it as lateral center-edge angle 20-25°. All studies included PROs and reported significant improvement after surgery in at least one PRO. Three studies reported clinical benefit and across the studies at least 70% of patients achieved minimum clinically important difference in at least one PRO. Rates of undergoing revision hip arthroscopy and THA ranged from 2.1% to 7% and 0% to 24%, respectively. Tönnis grade 2, Tönnis angle >15, and Outerbridge Grade IV cartilage damage were identified as predictors of conversion to THA.
CONCLUSIONS
Patients with borderline hip dysplasia undergoing primary hip arthroscopy demonstrated significant improvement in PROs at midterm and long-term follow-up. Survivorship at midterm follow-up was 98.2% (328/334 hips) and 76.3% (29/38 hips) at long-term follow-up.
LEVEL OF EVIDENCE
Level IV, systematic review of Level III and Level IV studies.
Topics: Humans; Hip Joint; Hip Dislocation; Treatment Outcome; Arthroscopy; Arthroplasty, Replacement, Hip; Femoracetabular Impingement; Hip Dislocation, Congenital; Patient Reported Outcome Measures; Follow-Up Studies; Retrospective Studies
PubMed: 36596369
DOI: 10.1016/j.arthro.2022.12.030 -
EFORT Open Reviews Oct 2019Developmental dysplasia of the hip (DDH) is one of the most prevalent congenital malformations. It has a wide spectrum of anatomical abnormalities of the hip joint and... (Review)
Review
Developmental dysplasia of the hip (DDH) is one of the most prevalent congenital malformations. It has a wide spectrum of anatomical abnormalities of the hip joint and is characterized by mild or incomplete formation of the acetabulum leading to laxity of the joint capsule, secondary deformity of the proximal femur and irreducible hip dislocation. It is the leading cause of early hip osteoarthritis in young individuals.Both genetic and environmental factors have been proposed to play an important role in the pathogenesis of DDH. A high prevalence is present in Asian, Caucasian, Mediterranean and American populations, with females being more frequently affected. We evaluated a variety of genetic studies indexed in the PubMed database.Several susceptive genes, including WISP3, PAPPA2, HOXB9, HOXD9, GDF5, TGF Beta 1, CX3CR1, UQCC, COL1A1, TbX4 and ASPN have been identified as being associated with the development of DDH. Moreover, genetic association has also been reported between hip dysplasia and other comorbidities. Even though genetic components are a crucial part in the aetiology of DDH, several DDH susceptibility genes need further investigation.The purpose of this review is to present current literature evidence regarding genes responsible for DDH development. Cite this article: 2019;4:595-601. DOI: 10.1302/2058-5241.4.190006.
PubMed: 31754465
DOI: 10.1302/2058-5241.4.190006 -
Dento Maxillo Facial Radiology Nov 2003The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other reported cases by a systematic review (SR) of the literature.
METHODS
The study comprises two elements, a complete series of all diagnosed patients at the Center for Craniofacial Genetics at the University of Regensburg, Germany, and a SR. Relevant literature was identified by electronic databases, review of citation lists and hand searching of key journals. The principal selection criterion was that the study should contain as many pertinent cases as possible. The presented signs and symptoms were assigned to the following categories: "supernumerary teeth", "failure of eruption", "hypoplastic maxilla" and "clavicular sign". Additionally, the family history was taken into account.
RESULTS
From the 410 English, German or French articles, 40 single case presentations and 17 multiple case studies remained that met the selection criteria. This report reviews the data of 283 patients with CCD including our own patient cohort of 24 individuals. Dental signs such as supernumerary teeth and eruption failure were expressed in over 93.5%. Skeletal symptoms such as hypoplastic maxilla and the clavicular sign were exhibited in over 84.3%. The prevalence of spontaneous mutations differs slightly when comparing the single case studies (72.0%) with our patient data (58.3%). The fraction of spontaneous mutations in multiple case studies was 5.0%.
CONCLUSION
The diagnosis of CCD can be difficult when typical features are not clearly expressed. Since the multiple case studies concentrated on specific clinical aspects, an overall ranking including all associated findings was not possible. Owing to their prevalence, we recommend referencing to the described list of clinical signs as major symptoms for the pathognomy in CCD, since they are infrequent in other conditions and in the general population. To categorize the expression of CCD, more interdisciplinary studies are necessary. Nevertheless, a subjective classification is possible according to the related restrictions in the patients' quality of life.
Topics: Cleidocranial Dysplasia; Craniofacial Abnormalities; Humans; Radiography; Tooth Abnormalities
PubMed: 15070835
DOI: 10.1259/dmfr/63490079 -
PloS One 2012Bacterial vaginosis (BV), the most common vaginal disorder among women of reproductive age, has been suggested as co-factor in the development of cervical cancer.... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Bacterial vaginosis (BV), the most common vaginal disorder among women of reproductive age, has been suggested as co-factor in the development of cervical cancer. Previous studies examining the relationship between BV and cervical intra-epithelial neoplasia (CIN) provided inconsistent and conflicting results. The aim of this study is to clarify the association between these two conditions.
METHODS
A systematic review and meta-analysis were conducted to summarize published literature on the association between BV and cervical pre-cancerous lesions. An extensive search of electronic databases Medline (Pubmed) and Web of Science was performed. The key words 'bacterial vaginosis' and 'bacterial infections and vaginitis' were used in combination with 'cervical intraepithelial neoplasia', 'squamous intraepithelial lesions', 'cervical lesions', 'cervical dysplasia', and 'cervical screening'. Eligible studies required a clear description of diagnostic methods used for detecting both BV and cervical pre-cancerous lesions. Publications were included if they either reported odds ratios (OR) and corresponding 95% confidence intervals (CI) representing the magnitude of association between these two conditions, or presented data that allowed calculation of the OR.
RESULTS
Out of 329 articles, 17 cross-sectional and 2 incidence studies were selected. In addition, two studies conducted in The Netherlands, using the national KOPAC system, were retained. After testing for heterogeneity and publication bias, meta-analysis and meta-regression were performed, using a random effects model. Although heterogeneity among studies was high (χ(2) = 164.7, p<0.01, I(2) = 88.5), a positive association between BV and cervical pre-cancerous lesions was found, with an overall estimated odds ratio of 1.51 (95% CI, 1.24-1.83). Meta-regression analysis could not detect a significant difference between studies based on BV diagnosis, CIN diagnosis or study population.
CONCLUSIONS
Although most studies were cross-sectional and heterogeneity was high, this meta-analysis confirms a connection between BV and CIN.
Topics: Adult; Cervix Uteri; Female; Humans; Odds Ratio; Regression Analysis; Uterine Cervical Neoplasms; Vaginosis, Bacterial; Young Adult; Uterine Cervical Dysplasia
PubMed: 23056195
DOI: 10.1371/journal.pone.0045201 -
Gastroenterology Research and Practice 2022Ulcerative colitis (UC) is associated with an increased risk of colorectal cancer. Current guidelines recommend endoscopic resection if the lesion is visible with... (Review)
Review
BACKGROUND AND AIMS
Ulcerative colitis (UC) is associated with an increased risk of colorectal cancer. Current guidelines recommend endoscopic resection if the lesion is visible with distinct margins and a complete resection can be achieved. However, submucosal fibrosis due to chronic inflammation may increase the procedural risk and reduce the complete resection rate. The aim of this study is to assess the efficacy and safety of endoscopic submucosal dissection (ESD) for dysplasia in UC patients.
MATERIALS AND METHODS
A systematic search of databases was performed until May 30, 2021. Studies that reported the resection rates and complication rates of ESD for dysplasia in UC patients were included. A random-effects model was used to generate conservative estimates of the prevalence of the outcome variables. All data analyses were performed using software Stata (version 15).
RESULTS
8 studies were enrolled in the meta-analysis, with a total of 203 dysplastic lesions in 192 UC patients. The mean lesion size was 26.7 mm. About 83% of the lesions were located in the left-side colon, and 90% of the lesions were nonpolypoid, and about 71% of the lesions had submucosal fibrosis. The mean procedural time of ESD was 83 minutes. The en bloc resection rate, complete resection rate, and curative resection rate were 94%, 84%, and 81%, respectively, with a local recurrence rate of 5%. The pooled prevalence of bleeding and perforation were 8% and 6%, respectively. The rates of metachronous tumors and additional surgery after ESD were 6% and 10%, respectively.
CONCLUSION
Despite some limitations, our study suggests that ESD is an effective and safe treatment for dysplasia in UC patients. However, randomized controlled multicenter studies with less heterogeneity and longer follow-up are needed to better assess the clinical outcomes of ESD in UC patients.
PubMed: 35126511
DOI: 10.1155/2022/9556161 -
Surgical Endoscopy Jan 2023To date, the optimal management of patients with inflammatory bowel disease (IBD) and flat low-grade dysplasia (fLGD) of the colon or rectum remains controversial. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
To date, the optimal management of patients with inflammatory bowel disease (IBD) and flat low-grade dysplasia (fLGD) of the colon or rectum remains controversial.
METHODS
A systematic review was reported in accordance with PRISMA 2020 (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). Patients diagnosed with fLGD on surveillance endoscopy were pooled from studies published between 2000 and 2020. Advanced neoplasia was defined by the presence of HGD, CRC or small bowel adenocarcinoma detected on subsequent surveillance endoscopy or from examination of resection specimens. We estimated the pooled annual incidence rate of colorectal cancer (CRC) and advanced neoplasia, and the risk factors associated with neoplastic progression.
RESULTS
We identified 24 articles and 738 IBD patients were diagnosed with fLGD on endoscopy. Two hundred thirty-six patients (32%) underwent immediate surgery with surgical specimens demonstrating CRC in 8 patients (pooled prevalence, 8.66%; 95% CI 3.58-19.46) and HGD (high grade dysplasia) in 11 patients (pooled prevalence, 13.97%; 95% CI 5.65-30.65). Five hundred-two patients (68%) underwent endoscopic surveillance with 63 patients with fLGD progressing to advanced neoplasia during endoscopic surveillance (38 HGD, 24 CRC and one patient developing small bowel adenocarcinoma). The mean duration of follow-up after fLGD diagnosis was 71 months (10.9-212). The pooled incidence of CRC and advanced neoplasia was 0.5 (95% CI 0.23-0.77) and 1.71 per 100 patient-year (95% CI 0.88-2.54) respectively. The use of corticosteroids and location of fLGD in the distal colon were significantly associated with neoplastic progression.
CONCLUSIONS
This study provides a summary incidence rate of CRC and advanced neoplasia in patients with IBD and fLGD to inform surgeons' and endoscopists' decision-making thus reducing potential ineffective treatments.
Topics: Humans; Colorectal Neoplasms; Colonoscopy; Inflammatory Bowel Diseases; Risk Factors; Adenocarcinoma
PubMed: 35920906
DOI: 10.1007/s00464-022-09462-w -
Actas Urologicas Espanolas Nov 2022Urothelial dysplasia and carcinoma in situ (CIS) are related to recurrence and progression of urothelial carcinoma. Differentiating CIS and dysplasia from reactive... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Urothelial dysplasia and carcinoma in situ (CIS) are related to recurrence and progression of urothelial carcinoma. Differentiating CIS and dysplasia from reactive atypia is often difficult based only on histological features. The integration of histological findings with immunohistochemistry is used in routine practice to make a diagnosis of CIS and, for this purpose, the immunohistochemical markers CK20, CD44, Ki67 and p53 are used to supplement histology. In this work, we aimed to assess CK20, CD44, Ki67 and p53 as immunohistochemical markers in patients with CIS through a systematic review and meta-analysis.
MATERIALS AND METHODS
A systematic review was performed by searching electronic databases for English-language studies published from January 2010 to April 2021. Studies were considered eligible if they evaluated the CK20, CD44, Ki67 and p53 expression in CIS.
RESULTS
In total, 15 references were suitable for quantitative review. The overall rate of CK20, CD44, Ki67 and p53 expression in CIS was 43%, 31%, 44%, 38%, respectively.
CONCLUSIONS
Our study supports the 2014 International Society of Urologic Pathology consensus that histological assessment remains the gold standard to diagnose urothelial CIS and suggests that a very close correlation between morphological, immunohistochemical and clinical data is essential to provide the best management for patients with bladder carcinoma.
Topics: Humans; Biomarkers, Tumor; Carcinoma in Situ; Carcinoma, Transitional Cell; Hyaluronan Receptors; Keratin-20; Ki-67 Antigen; Tumor Suppressor Protein p53; Urinary Bladder; Urinary Bladder Neoplasms; Urothelium
PubMed: 36216762
DOI: 10.1016/j.acuroe.2022.08.013 -
The Knee Dec 2023Trochlear dysplasia is a condition in which the femoral trochlea has an abnormal shape and function. Trochleoplasty aims to change the shape of the trochlea in order to... (Meta-Analysis)
Meta-Analysis Review
Sulcus deepening trochleoplasty versus bereiter trochleoplasty for high grade trochlear dysplasia: A systematic review and meta-analysis for clinical outcome and recurrent instability.
BACKGROUND
Trochlear dysplasia is a condition in which the femoral trochlea has an abnormal shape and function. Trochleoplasty aims to change the shape of the trochlea in order to stabilize an unstable patella. This study compared clinical outcomes and recurrent instability after surgery between sulcus deepening trochleoplasty (Lyon) and Bereiter trochleoplasty in patients with high-grade trochlear dysplasia.
METHODS
We conducted a meta-analysis comparing Bereiter and Lyon trochleoplasty based on PRISMA guidelines regarding clinical outcome and recurrent instability for high-grade trochlear dysplasia. Searching on five databases, we found 11 eligible studies with a total of 520 subjects to be analysed. Studies were qualitatively and quantitatively evaluated using Review Manager 5.4 or equivalent.
RESULTS
Both techniques showed no differences in sulcus angle, return-to-sport rate, and satisfactory rate. The IKDC and Kujala scores showed good outcomes but were not significantly different. IKDC score was not different after analysis between Bereiter and Lyon techniques. The pooled improvement of IKDC score on both subgroups was 24.39 (95% CI 21.14-27.65). A pooled analysis of 10 studies found that the Kujala score did not differ between groups with Bereiter and Lyon techniques. The total pooled mean difference of both groups was 25.87 (95% CI 21.70-30.05).
CONCLUSION
None of the techniques analysed highlighted an absolute superiority. Clinical relevance showed both techniques have good clinical outcomes, fewer complications, and recurrent instability for high-grade trochlear dysplasia.
Topics: Humans; Patellar Dislocation; Knee Joint; Femur; Patella; Joint Instability; Patellofemoral Joint
PubMed: 37925805
DOI: 10.1016/j.knee.2023.10.001