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Skeletal Radiology Jul 2023To assess the prevalence of intraosseous cartilaginous lesions in patients with multiple osteochondromas based on total-body (TB) MRI examinations, used for screening...
PURPOSE
To assess the prevalence of intraosseous cartilaginous lesions in patients with multiple osteochondromas based on total-body (TB) MRI examinations, used for screening purposes.
SUBJECTS AND METHODS
Between 2013 and 2020, TB-MRI examinations were performed in 366 patients with proven multiple osteochondromas syndrome, to rule out malignant progression. For this study, presence, or absence of intraosseous central or eccentrical chondroid lesions, defined as lobulated lesions with low signal intensity on T1-weighted images, replacing bone marrow and high signal intensity equal to fluid on T2-weighted images in the bone marrow of the meta-diaphysis of (one of) the long bones, were recorded in the long bones as part of a TB-MRI protocol.
RESULTS
In 62 patients out of the 366 MO patients (17%), one or more intraosseous chondroid lesions (either enchondroma or atypical cartilaginous tumor) were detected. The age of the patients at time of diagnosis ranged from 17 to 61 years (mean, 36). Size of the lesions varied from 4 to 69 mm (mean, 16.3 mm). The most common location was the proximal femur (n = 29), followed by the distal femur and proximal humerus (n = 18 and n = 10, respectively). In nine of the patients with an intraosseous chondroid lesion, a second and/or third TB-MRI were available during the period of evaluation (mean interval, 2.7 years between the exams). In none of these patients increase of these intraosseous lesions was noticed.
CONCLUSION
Intraosseous chondroid lesions (enchondroma and ACT) appear to occur more frequently in MO patients than in the general population. TB-MRI allows to detect these, besides the identification of OC with suspicious features.
Topics: Humans; Adolescent; Young Adult; Adult; Middle Aged; Exostoses, Multiple Hereditary; Bone Neoplasms; Chondroma; Epiphyses; Magnetic Resonance Imaging
PubMed: 36648521
DOI: 10.1007/s00256-023-04277-9 -
International Journal of Molecular... Dec 2022() gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex....
() gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesis. Data from literature relates variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the haploinsufficiency of , , and genes. Clinical cardinal features of PSS syndrome are multiple exostoses (due to the involvement), biparietal foramina (due to the involvement), intellectual disability, and craniofacial anomalies (due to the involvement). To date, to the best of our knowledge, a detailed description of -related disorder clinical phenotype is not described in the literature; in fact, only 14 subjects with microdeletion frameshift or nonsense variants concerning only gene have been reported. All reported cases did not present or variants, and their clinical features did not fit with PSS diagnosis. Herein, by using Exome sequencing, and Sanger sequencing of the region of interest, we describe a case of a child with a paternally inherited (mosaicism of 5%) truncating variant of the gene (c.649_650del; p.Gln217ValfsTer6), and discuss the new evidence. In conclusion, these patients showed varied clinical expressions, mainly including the presence of intellectual disability, epilepsy, hypotonia, and dysmorphic features. Our study contributes to describing the genotype-phenotype spectrum of patients with PHF21A-related disorder; however, the limited data in the literature have been unable to provide a precise diagnostic protocol for patients with -related disorder.
Topics: Child; Humans; Intellectual Disability; Chromosome Deletion; Chromosome Disorders; Gene Deletion; Phenotype; Histone Deacetylases
PubMed: 36555772
DOI: 10.3390/ijms232416130 -
Journal of Pediatric Orthopedics Jan 2023In children with severe hereditary multiple exostoses (HME), coxa valga, and hip subluxation are common deformities. The literatures related to surgical management and...
BACKGROUND
In children with severe hereditary multiple exostoses (HME), coxa valga, and hip subluxation are common deformities. The literatures related to surgical management and prevention of hip joint subluxation in HME are scarce. In this study, we aimed to investigate the efficacy of guided growth procedure to correct coxa valga and hip subluxation in HME patients.
METHODS
We retrospectively retrieved 12 patients who received guided growth procedures for coxa valga and hip subluxation in HME patients with proximal femur exostoses with a minimum follow-up time of 2 years between 2012 and 2019. Radiographic parameters include head-shaft angle, Hilgenreiner-epiphyseal angle, acetabular index, Reimer migration percentage, center-edged angle, articulo-trochanteric distance, and femoral neck length for comparison between preoperative and latest follow-up results. It was conducted statistically by paired t test and Wilcoxon signed rank test.
RESULTS
In this study, the mean difference between preoperative and latest follow-up was significant in head-shaft angle (12±5 degrees; CI, 10-14; P<0.001), Hilgenreiner-epiphyseal angle (12±5 degrees; CI, 10-15; P<0.001), and MP (7%±8%; CI, 3-11; P=0.001). There was a low revision rate (4 of 21, 19%) and no complication in our study. Compared with previous studies on guided growth in children with cerebral palsy and developmental dysplasia of the hip, our study showed good comparable outcomes.
CONCLUSION
The results indicated that guided growth improves the hip radiographic parameters of children with HME and may prevent coxa valga and hip subluxations. It is a safe procedure and provides predictable results.
LEVEL OF EVIDENCE
Level IV; therapeutic, case series.
Topics: Child; Humans; Exostoses, Multiple Hereditary; Retrospective Studies; Coxa Valga; Acetabulum; Joint Dislocations; Hip Joint
PubMed: 36509457
DOI: 10.1097/BPO.0000000000002296 -
European Journal of Human Genetics :... Feb 2023Only a limited number of genetic diseases are diagnosable in archaeological individuals and none have had causal mutations identified in genome-wide screens. Two...
Only a limited number of genetic diseases are diagnosable in archaeological individuals and none have had causal mutations identified in genome-wide screens. Two individuals from the Gaelic Irish Medieval burial ground of Ballyhanna, Co. Donegal, showed evidence of bone tumours consistent with the autosomal dominant condition multiple osteochondromas. Genome sequencing of the earlier individual uncovered a missense mutation in the second exon of EXT1, a specific lesion that has been identified in several modern patients. The later individual lacked this but displayed a novel frameshift mutation leading to a premature stop codon and loss of function in the same gene. These molecular confirmations of a paleopathological diagnosis within a single rural ancient context are surprisingly disjunct, given the observation of clusters of this disease in modern isolated populations and a de novo mutation rate of only 10%.
Topics: Humans; Exostoses, Multiple Hereditary; Cemeteries; N-Acetylglucosaminyltransferases; Mutation; Frameshift Mutation
PubMed: 36443465
DOI: 10.1038/s41431-022-01219-2 -
Genes Nov 2022Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal...
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, and In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% ( = 14) had a family history of MO. Clinical severity scores were class I in 34% (:18), class II in 24.5% (:13) and class III in 41.5% (:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in and 11 (38%) in . Patients with variants showed a height z-score of 1.03 SD lower than those with variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.
Topics: Humans; Exostoses, Multiple Hereditary; Cross-Sectional Studies; N-Acetylglucosaminyltransferases; Mutation; Genetic Testing
PubMed: 36360300
DOI: 10.3390/genes13112063 -
Revista Espanola de Anestesiologia Y... Dec 2022The costoclavicular brachial plexus block (CBPB) has been receiving increasing attention as an effective technique for upper arm surgery conducted without phrenic...
The costoclavicular brachial plexus block (CBPB) has been receiving increasing attention as an effective technique for upper arm surgery conducted without phrenic paralysis. However, studies in children are lacking. CBPB was applied to a 10 year-old girl undergoing scheduled radial and ulnar osteotomy due to multiple cartilaginous exostoses and ulnar lengthening. CBPB was performed with a bolus administration of 10 mL of 0.25% levobupivacaine, and the catheter was sequentially replaced in the right costoclavicular space. After surgery, a continuous infusion of 0.17% levobupivacaine through a catheter was initiated at 2 mL/h, along with patient-controlled analgesia (PCA) of 3 mL 0.17% levobupivacaine with a 60-min lock out. The patient complained of 5/10 pain on the numerical rating scale (NRS) 2 h after surgery, which improved immediately after bolus administration. The analgesia induced by CBPB was otherwise effective (NRS ≤ 2). CBPB with PCA may provide adequate analgesia in paediatric cases.
Topics: Female; Humans; Child; Brachial Plexus Block; Analgesia, Patient-Controlled; Anesthetics, Local; Ultrasonography, Interventional; Catheters
PubMed: 36344405
DOI: 10.1016/j.redare.2022.10.001 -
Pediatrics International : Official... Jan 2023
Topics: Humans; Exostoses, Multiple Hereditary; WAGR Syndrome; Chromosome Deletion; Chromosome Disorders
PubMed: 36321364
DOI: 10.1111/ped.15405 -
Journal of Pediatric Orthopedics Jan 2023Classifications describing forearm lesions in patients with Hereditary Multiple Osteochondromatosis (HMO) have been used to recommend surgical intervention and stratify...
BACKGROUND
Classifications describing forearm lesions in patients with Hereditary Multiple Osteochondromatosis (HMO) have been used to recommend surgical intervention and stratify outcomes; however, there is no consensus on which classification offers greater reliability. The purpose of this study was to determine the reliability of the Masada classification and newer classifications among pediatric hand surgeons.
METHODS
One hundred one patients with HMO between June 2014 and October 2019 were enrolled in the Congenital Upper Limb Differences (CoULD) Registry. Of those, 67 patients with 101 forearms were included. Four pediatric hand surgeons from the CoULD study group undertook an online evaluation. Each rater classified radiographs according to the Masada classification. Six weeks later, raters were asked to reclassify images according to the Masada, Gottschalk, and Jo classifications. Rater agreement for these classifications was assessed by estimating Fleiss kappa along with a 95% CI.
RESULTS
Interrater agreement for Masada classification after the first reading was poor (κ=0.35; 95% CI=0.30-0.41) across all raters. Interrater agreement across the 4 raters decreased for the Masada classification from the first to the second reading (κ=0.35 vs 0.21; P <0.001). Intrarater agreement for the Masada classification ranged from 0.32 to 0.63 from the first to the second study reading. Gottschalk and Jo classifications yielded significantly better interrater agreement compared with Masada (κ=0.43 vs 0.21; P <0.001). Unclassifiable cases were highest in the Masada classification (34% to 44%) and lower in the Jo (17%) and Gottschalk (14%) classifications.
CONCLUSION
Despite wide use, the Masada classification was found to have low reliability when classifying forearm deformities in HMO. Gottschalk offered more options for location, yet lacked deformity description including radial head dislocation. Jo classification offered more locations than Masada and incorporated radial head dislocation in some patterns. Based on the shortcomings in all 3 classification systems, the development of a more inclusive and reliable classification is warranted.
LEVEL OF EVIDENCE
Level II; Diagnostic.
Topics: Humans; Child; Exostoses, Multiple Hereditary; Reproducibility of Results; Forearm; Upper Extremity Deformities, Congenital; Joint Dislocations; Observer Variation
PubMed: 36315832
DOI: 10.1097/BPO.0000000000002287 -
Orthopaedics & Traumatology, Surgery &... Sep 2023Radial head dislocation in patients with multiple hereditary exostosis (MHE) can lead to functional deficit. We investigated whether the location of the exostosis and...
INTRODUCTION
Radial head dislocation in patients with multiple hereditary exostosis (MHE) can lead to functional deficit. We investigated whether the location of the exostosis and certain radiological criteria predict risk of radial head dislocation/subluxation.
HYPOTHESIS
We hypothesized that the radiological criteria differentiate between patients who need closer follow-up of the forearm and others for whom multiple radiographs are superfluous.
PATIENTS AND METHODS
We retrospectively reviewed the demographics of patients with MHE in our hospital, and radiographic measurements were made on forearm radiographs: radial length, ulnar length, ulnar variance, radial articular angle, and radial bowing.
RESULTS
Forty-nine forearms were analyzed in 30 patients. Mean age was 9.5 years at first evaluation and 11.8 years at last evaluation. Radial head dislocation or subluxation was found in 6 forearms (12%). Risk factors comprised isolated exostosis in the distal portion of the ulna or exostosis in the distal part of both the ulna and radius, radial or ulnar shortening>4.6cm, radial bowing>8.1%, radial articular angle>35°, and≥3 exostoses in the forearm.
DISCUSSION
In patients with MHE with risk factors for radial head dislocation, close follow- up with regular radiography is indicated and early surgery should be performed before the radial head dislocates.
LEVEL OF EVIDENCE
IV; retrospective study.
Topics: Humans; Child; Forearm; Retrospective Studies; Ulna; Radius; Joint Dislocations; Exostoses, Multiple Hereditary; Osteochondroma; Bone Neoplasms
PubMed: 36270444
DOI: 10.1016/j.otsr.2022.103445 -
Journal of Clinical Rheumatology :... Oct 2022
Topics: Bone and Bones; Exostoses, Multiple Hereditary; Humans
PubMed: 36173374
DOI: 10.1097/RHU.0000000000001911