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Osteoarthritis and Cartilage Jan 2021Acetabular dysplasia is an important pre-disposing factor for osteoarthritis of the hip. However, it is not completely known how acetabular dysplasia develops during...
BACKGROUND
Acetabular dysplasia is an important pre-disposing factor for osteoarthritis of the hip. However, it is not completely known how acetabular dysplasia develops during childhood.
OBJECTIVE
To study the prevalence of acetabular dysplasia and its association with body mass index (BMI) and physical activity in 9 year old children.
DESIGN
The population for this cross-sectional study was drawn from the ongoing prospective cohort study: Generation R. 9,778 mothers with a delivery date from March 2002 until January 2006 were enrolled. In a random subgroup of these children Dual-energy X-ray absorptiometry (DXA) scanning was performed at age 9.
EXPOSURES
BMI, standardized for the Dutch population and categorized in four groups based on extended international Obesity Task Force cut-offs: underweight, normal, overweight and obesity. Physical activity was based on time spent on playing outdoors, playing sports and walking/cycling to school.
MAIN OUTCOMES AND MEASURES
The degree of acetabular dysplasia was determined with the centre-edge angle (CEA) and acetabular depth-width ratio (ADR) in DXA images of the hip.
RESULTS
1,188 DXA images of children's hips were available for analysis. The median age of the children was 9.86 years. Prevalence of dysplasia and mild dysplasia was respectively 6.3%; 25.6% with CEA and 4.8%; 25.0% with ADR. BMI was negatively associated with mild dysplasia (OR 0.80 CI 0.71-0.90). Obese children showed less mild dysplasia compared to normal children (OR 0.48 CI 0.24-0.97) in unadjusted analysis. Physical activity represented by walking to school showed a statistically significant negative association with mild dysplasia (OR 0.87 CI 0.76-0.99). After adjustment for age, ethnicity, sex, first born, breech presentation, birthweight, gestational age and Caesarean section, the patterns of association with dysplasia remained for both BMI and physical activity.
CONCLUSIONS
In this study, being overweight and light physical activity were negatively associated with the development of (mild) acetabular dysplasia at the age of 9 years.
Topics: Absorptiometry, Photon; Acetabulum; Body Mass Index; Child; Exercise; Female; Hip Dislocation, Congenital; Hip Joint; Humans; Male; Pediatric Obesity
PubMed: 33242605
DOI: 10.1016/j.joca.2020.09.007 -
Brain : a Journal of Neurology Nov 2022One outstanding challenge for machine learning in diagnostic biomedical imaging is algorithm interpretability. A key application is the identification of subtle...
One outstanding challenge for machine learning in diagnostic biomedical imaging is algorithm interpretability. A key application is the identification of subtle epileptogenic focal cortical dysplasias (FCDs) from structural MRI. FCDs are difficult to visualize on structural MRI but are often amenable to surgical resection. We aimed to develop an open-source, interpretable, surface-based machine-learning algorithm to automatically identify FCDs on heterogeneous structural MRI data from epilepsy surgery centres worldwide. The Multi-centre Epilepsy Lesion Detection (MELD) Project collated and harmonized a retrospective MRI cohort of 1015 participants, 618 patients with focal FCD-related epilepsy and 397 controls, from 22 epilepsy centres worldwide. We created a neural network for FCD detection based on 33 surface-based features. The network was trained and cross-validated on 50% of the total cohort and tested on the remaining 50% as well as on 2 independent test sites. Multidimensional feature analysis and integrated gradient saliencies were used to interrogate network performance. Our pipeline outputs individual patient reports, which identify the location of predicted lesions, alongside their imaging features and relative saliency to the classifier. On a restricted 'gold-standard' subcohort of seizure-free patients with FCD type IIB who had T1 and fluid-attenuated inversion recovery MRI data, the MELD FCD surface-based algorithm had a sensitivity of 85%. Across the entire withheld test cohort the sensitivity was 59% and specificity was 54%. After including a border zone around lesions, to account for uncertainty around the borders of manually delineated lesion masks, the sensitivity was 67%. This multicentre, multinational study with open access protocols and code has developed a robust and interpretable machine-learning algorithm for automated detection of focal cortical dysplasias, giving physicians greater confidence in the identification of subtle MRI lesions in individuals with epilepsy.
Topics: Humans; Retrospective Studies; Malformations of Cortical Development; Epilepsy; Magnetic Resonance Imaging; Machine Learning; Epilepsies, Partial
PubMed: 35953082
DOI: 10.1093/brain/awac224 -
Journal of Clinical Orthopaedics and... Feb 2020To evaluate the correlation between trochlear dysplasia and acetabular coverage.
PURPOSE
To evaluate the correlation between trochlear dysplasia and acetabular coverage.
MATERIALS AND METHODS
109 retrospective CT studies referred from the young adult knee clinic were independently reviewed by two observers. Anterior acetabular (AASA) and posterior acetabular (PASA) sector angles were calculated bilaterally on axial CT. Trochlear dysplasia was graded using the Dejour classification (A-D). ANOVA test was used.
RESULTS
Dejour types A, B and D trochlear dysplasia were associated with a significantly increased AASA (P value = 0.0011).
CONCLUSION
Our results demonstrate a significant relationship between trochlear dysplasia and anterior acetabular coverage, as measured by AASA.
PubMed: 31992924
DOI: 10.1016/j.jcot.2019.06.010 -
Frontiers in Veterinary Science 2019Hip and elbow dysplasia are common disorders in larger dog breeds and crosses, and a known contributory factor to osteoarthritis, lameness and reduced mobility....
Hip and elbow dysplasia are common disorders in larger dog breeds and crosses, and a known contributory factor to osteoarthritis, lameness and reduced mobility. Screening schemes evaluating the severity of hip and elbow dysplasia in the UK are administered by the British Veterinary Association (BVA) and the Kennel Club (KC). The BVA/KC Hip Dysplasia scoring scheme is over 50 years old, having originated in 1965, and has operated in its current form since 1983. The BVA/KC Elbow Dysplasia grading scheme commenced more recently in 1998 and is based on the International Elbow Working Group guidelines. Hip score and elbow grade data on a considerable number of dogs in the UK have been generated from these two screening schemes. This study analyses data from dogs of six breeds scored from 1990 to present, to establish any determinable trends in hip score and elbow grade parameters, and to examine whether the implementation of such schemes has had a positive influence on hip and elbow health. A range of criteria, including the rate of participation in the screening schemes, hip score and elbow grade parameters (e.g., median, mean, standard deviation), and estimated breeding values (EBVs) were analyzed, both in the overall population and also among breeding animals. The results show a general decline in hip score parameters (median, mean, standard deviation, and 75th percentile), revealing a reduction in the prevalence and severity of hip dysplasia. There was a more modest decline in mean elbow grade within breeds. The proportion of sires and dams (of dogs born per year) with no hip score or elbow grade fell substantially over time, demonstrating good participation in the screening schemes. In most breeds, the scores of sires and dams are demonstrably improving. There is a declining genetic trend as ascertained by EBVs for both hip scores and elbow grades in most breeds, implying that the improvement observed is due in part to selection for improvement in hip and elbow health as described by the respective screening schemes.
PubMed: 32010712
DOI: 10.3389/fvets.2019.00490 -
Current Reviews in Musculoskeletal... Nov 2023The most common and biomechanically influential pathoanatomic risk factor for recurrent patellofemoral instability is trochlear dysplasia. Sulcus-deepening... (Review)
Review
PURPOSE OF REVIEW
The most common and biomechanically influential pathoanatomic risk factor for recurrent patellofemoral instability is trochlear dysplasia. Sulcus-deepening trochleoplasty is a procedure developed to address high-grade trochlear dysplasia in the setting of patellofemoral instability. The purpose of this paper is to outline the current classification and surgical management of trochlear dysplasia as well as to review the current literature on the clinical outcomes and complications of sulcus-deepening trochleoplasty.
RECENT FINDINGS
This review outlines the most recent literature reporting evidence behind the decision-making to perform a trochleoplasty in the setting of patellofemoral instability and high-grade trochlear dysplasia. Critical parameters include grade of trochlear dysplasia, severity of symptoms, pertinent physical examination findings, surgical techniques, modifications for skeletally immature patients, and considerations for the revision setting. Historic studies have elicited concerns regarding high reported complication rates for trochleoplasty; however, recent studies consistently report good clinical outcomes and acceptable complication rates, similar to those of other patellar stabilizing procedures. The addition of a trochleoplasty in patients with high-grade dysplasia results in a lower re-dislocation rate, significant improvements in patient-reported outcome measures (PROMs) as well as high levels of patient satisfaction and return to sport. The use of sulcus-deepening trochleoplasty for the treatment of high-grade dysplasia and recurrent patellofemoral instability is a well-established technique with good outcomes and an acceptable complication profile. In patients with high-grade dysplasia, trochleoplasty results in lower re-dislocation rates, high patient satisfaction scores, and good clinical and functional outcomes. An understanding of trochleoplasty and its indications should be in the armamentarium of surgeons treating patellofemoral instability.
PubMed: 37698757
DOI: 10.1007/s12178-023-09868-6 -
Balkan Journal of Medical Genetics :... May 2023Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is...
Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions. More than 300 genes were reported to be involved in DTD etiology with autosomal recessive, autosomal dominant and X-linked manner. We describe clinical case of a 42-year-old woman from the west of Ukraine with diastrophic dysplasia and two pathogenic variants and identified in gene. SLC26A2-related diastrophic dysplasia was confirmed based on the presence of pathogenic variants in , which is associated with autosomal recessive forms of skeletal dysplasia, combined with phenotypic symptoms and radiographic findings.
PubMed: 37265969
DOI: 10.2478/bjmg-2022-0018 -
Gastrointestinal Endoscopy Jan 2022Seattle protocol forceps biopsy sampling (FB) is currently recommended for surveillance in Barrett's esophagus (BE) but limited by sampling error and lack of compliance.... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND AIMS
Seattle protocol forceps biopsy sampling (FB) is currently recommended for surveillance in Barrett's esophagus (BE) but limited by sampling error and lack of compliance. Wide-area transepithelial sampling with 3-dimensional analysis (WATS3D; CDx Diagnostics, Suffern, NY, USA) is reported to increase BE dysplasia detection. We assessed the incremental yield and clinical significance of WATS3D for dysplasia detection over FB in a systematic review and meta-analysis.
METHODS
We queried major scientific databases for studies using WATS3D and FB from 2000 to 2020. The primary outcome was the incremental yield of WATS3D-detected dysplasia (defined as a composite of indefinite for dysplasia, low- and high-grade dysplasia [HGD] and esophageal adenocarcinoma [EAC]) over FB. Secondary outcomes were incremental yields of HGD/EAC and rate of reconfirmation of WATS3D dysplasia on subsequent FB.
RESULTS
Meta-analysis of 7 eligible studies demonstrated that FB diagnosed dysplasia in 15.9% of cases, whereas the incremental yield with WATS3D was 7.2% (95% confidence interval, 3.9%-11.5%; I= 92.1%). Meta-analysis of 6 studies demonstrated that FB diagnosed HGD/EAC in 2.3% of patients, whereas the incremental yield with WATS3D was 2.1% (95% confidence interval, .4%-5.3%; I= 92.7%). Notably, WATS3D was negative in 62.5% of cases where FB identified dysplasia. Two studies reported reconfirmation of WATS3D dysplasia with FB histology in only 20 patients.
CONCLUSIONS
WATS3D increases dysplasia detection; however, the clinical significance of this increased dysplasia detection remains uncertain. Data from endoscopic follow-up to ascertain FB histology in patients with dysplasia based solely on WATS3D are needed to determine the optimal clinical application and significance of WATS3D-only dysplasia.
Topics: Adenocarcinoma; Barrett Esophagus; Biopsy; Disease Progression; Esophageal Neoplasms; Humans; Precancerous Conditions; Specimen Handling
PubMed: 34543648
DOI: 10.1016/j.gie.2021.09.015 -
Clinical and Experimental... Aug 2020The aim of the present study was to evaluate audiologic and vestibular functions in patients with lateral semicircular canal (LSCC) dysplasia/aplasia.
OBJECTIVES
The aim of the present study was to evaluate audiologic and vestibular functions in patients with lateral semicircular canal (LSCC) dysplasia/aplasia.
METHODS
We conducted a retrospective study of a patients with LSCC dysplasia and aplasia at tertiary referral center. The subjects included 15 patients with LSCC dysplasia or aplasia, with or without combined inner ear anomalies. Medical history, temporal bone computed tomography scans, pure-tone audiograms, and vestibular function test results were analyzed.
RESULTS
LSCC anomaly was identified in 15 patients (20 ears). Nine patients had unilateral LSCC dysplasia only and showed a mean pure-tone average of 45.5±28.7 dB, while three patients (33.3%) among them had normal hearing. Six patients had bilateral LSCC dysplasia/aplasia combined with other inner ear anomalies and profound bilateral hearing loss. Notably, only four out of 15 patients (26.7%) had dizziness symptoms. On caloric test, patients with isolated LSCC dysplasia showed a 51.8%±29.3% level of canal paresis (eight out of nine patients showed anomalies), whereas patients with bilateral LSCC dysplasia/aplasia presented bilateral vestibular loss. One patient with isolated LSCC underwent video-head impulse test; horizontal canal gain decreased to 0.62 (17% asymmetry) and anterior canal gain was 0.45 (52.6% asymmetry), whereas posterior canal gain was normal.
CONCLUSION
Bilateral LSCC dysplasia/aplasia is comorbid with other inner ear anomalies and presents as profound bilateral hearing loss and vestibulopathy. In contrast, isolated unilateral LSCC dysplasia presents as ipsilateral horizontal canal paresis. Hearing function in isolated LSCC dysplasia is usually, but not always, impaired with varying severity.
PubMed: 31929468
DOI: 10.21053/ceo.2019.01053 -
Jornal de Pediatria 2021The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. (Review)
Review
OBJECTIVES
The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity.
DATA SOURCE
The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the last 10 years that allowed the characterization of the several immunological defects included in this group.
DATA SYNTHESIS
Immunodeficiencies with syndromic characteristics include 65 immunological defects in 9 subgroups. The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity. Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidrotic ectodermal dysplasia with immunodeficiency and purine nucleoside phosphorylase deficiency were addressed.
CONCLUSIONS
Immunological defects can present with very different characteristics; however, the occurrence of infectious processes, autoimmune disorders and progression to malignancy may suggest diagnostic research. In the case of diseases with gene mutations, family history is of utmost importance.
Topics: Humans; Immunologic Deficiency Syndromes; Phenotype; Primary Immunodeficiency Diseases; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors
PubMed: 33347837
DOI: 10.1016/j.jped.2020.10.015 -
Orthopaedic Journal of Sports Medicine Apr 2021The femoral trochlea is considered the most significant osseous factor affecting stability in the patellofemoral joint. The true prevalence of trochlear dysplasia in the...
BACKGROUND
The femoral trochlea is considered the most significant osseous factor affecting stability in the patellofemoral joint. The true prevalence of trochlear dysplasia in the general population is largely unknown.
PURPOSE/HYPOTHESIS
To investigate the prevalence of trochlear dysplasia in the general population. Our hypothesis was that, while trochlear dysplasia is not uncommon, there is a low prevalence of severe dysplasia in the general population.
STUDY DESIGN
Descriptive epidemiology study.
METHODS
Five observers were asked to evaluate 692 skeletally mature femoral specimens from 359 skeletons for trochlear dysplasia at 2 time points. We further subclassified the dysplastic trochlea in 62 femora with the highest rated degree of dysplasia.
RESULTS
Sex ( = .11) and race ( = .2) had no effect on the severity of dysplasia. Interobserver reliability was excellent (0.906 and 0.904), and intraobserver reliability was good to excellent (0.686 to 0.808). The percentages of trochlea graded as normal, mildly dysplastic, moderately dysplastic, and severely dysplastic were 61.5%, 21.4%, 12.7%, and 4.4%, respectively, in the first evaluation, and 58.5%, 23.7%, 12.7%, and 5.1% in the second evaluation. Of the 62 trochlea with the highest scores for dysplasia, 36 had trochlear dysplasia without a supratrochlear spur, 8 had trochlear dysplasia with medial femoral condyle hypoplasia, and 18 had trochlear dysplasia with a supratrochlear spur.
CONCLUSION
Observers with differing degrees of clinical experience had similar opinions on the degree of trochlear dysplasia. Also, our cohort showed that moderate to severe dysplasia is not uncommon, as it is present in approximately 17% of knees in our cohort. Our findings also suggest that clinicians are speaking the same language when identifying and describing trochlear dysplasia on gross inspection.
PubMed: 33869646
DOI: 10.1177/2325967121994548