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1.
Artículo en Inglés | MEDLINE | ID: mdl-38996221

RESUMEN

INTRODUCTION: Adolescent idiopathic scoliosis and Scheuermann kyphosis are common spinal deformities (SD) among adolescents. The potential link between hypermobility and SD is a topic of debate. We aimed to investigate the prevalence of hypermobility and its association with SD. METHODS: A cross-sectional analysis of records of 17-year-old subjects who were recruited into mandatory military service was conducted. Study population comprised 1,220,073 subjects. Prevalence rates were calculated for hypermobility and different categories of SD by severity, studying the strength of the association between hypermobility and SD. RESULTS: Of 1,220,073 subjects, 0.0111% exhibited hypermobility. Spinal deformities were identified in 10.5% of subjects. Specifically, 7.9% had mild SD, 2.4% had moderate SD, and 0.1% had severe SD. The overall association between hypermobility and SD showed an odds ratio of 2.31 (P < 0.001). Subgroup analyses revealed ORs of 1.226 (P = 0.041) for mild deformities, 5.783 (P < 0.001) for moderate deformities, and 4.01 (P = 0.002) for severe deformities. The association was stronger for moderate and severe SD. CONCLUSIONS: This study establishes a notable association between hypermobility and SD among adolescents. The findings highlight the importance of understanding this relationship, which could contribute to advancements in comprehending SD development. Additional research is warranted to expand upon these findings.


Asunto(s)
Inestabilidad de la Articulación , Escoliosis , Humanos , Adolescente , Estudios Transversales , Masculino , Femenino , Inestabilidad de la Articulación/epidemiología , Escoliosis/epidemiología , Prevalencia , Enfermedad de Scheuermann/epidemiología
2.
J Pediatr Gastroenterol Nutr ; 79(1): 42-47, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38747032

RESUMEN

The gastrointestinal (GI) manifestations in children with hypermobile Ehlers-Danlos syndrome/joint hypermobility syndrome (hEDS/JHS) are not well described. We investigated the prevalence of GI disorders in children and young adults with hEDS/JHS through a single-center retrospective review. Demographic data, clinical history, symptoms, and diagnostic studies were reviewed. Of 435 patients with hEDS/JHS, 66% were females (age 5-28 years). We noted a high prevalence of constipation (61%), dysphagia (32%), dyspepsia and/or gastroparesis (25%), eosinophilic esophagitis (EoE) (21%), and celiac disease (4%) in our cohort. Upper endoscopy and gastric emptying scans had the highest yield to detect abnormalities. Motility studies were abnormal in 31% of the 80 patients who underwent them. Dysphagia symptoms are significantly associated with EoE. Thirty-three percent of dysphagia patients had EoE, versus 16% of non-dysphagia patients (p < 0.001). Screening hEDS/JHS patients for GI issues should be routine, with further investigations and referrals guided by identified symptoms.


Asunto(s)
Enfermedades Gastrointestinales , Inestabilidad de la Articulación , Humanos , Femenino , Adolescente , Masculino , Niño , Prevalencia , Estudios Retrospectivos , Adulto Joven , Adulto , Preescolar , Enfermedades Gastrointestinales/epidemiología , Enfermedades Gastrointestinales/etiología , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/complicaciones , Trastornos de Deglución/epidemiología , Trastornos de Deglución/etiología , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/epidemiología , Esofagitis Eosinofílica/epidemiología , Esofagitis Eosinofílica/complicaciones , Estreñimiento/epidemiología , Estreñimiento/etiología , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/epidemiología , Dispepsia/epidemiología , Dispepsia/etiología
3.
Eur J Pediatr ; 183(8): 3517-3529, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38801562

RESUMEN

Current international consensus of the appropriate Beighton score cut-off to define if a child has generalised joint hypermobile or not is based upon expert opinion. Our aim was to determine the prevalence of Beighton scores of children worldwide to provide a recommendation for establishing the Beighton score cut-off to identify generalised joint hypermobility in children. We used AMED, OVID Medline, Embase and CINAHL to find published articles from inception to April 2024 describing Beighton scores of children up to and including 18 years from the general population. We extracted study demographics including country of publication, total number of participants, summary data about the age and sex of participant, Beighton scores and any cut-off used where authors deemed children hypermobile and how many children were rated at the corresponding Beighton scores. There were 37 articles reporting on the prevalence or incidence of hypermobility at cut-off scores from 28,868 participants. Using the cut-off of ≥ 6 resulted in a prevalence of 6% for studies reporting male data and 13% for studies reporting female data. Limited data reporting availability precluded further sub-analysis at a Beighton score of ≥ 7, age, pubertal status and ethnicity.    Conclusion: The working threshold for identifying generalised joint hypermobility in children should be a Beighton score of 6 or more. Our analysis also suggests a Beighton score of 7 or greater may be appropriate in childhood, particularly for females. What is Known: • The working threshold for identifying generalised joint hypermobility in children previously was set based on expert opinion. What is New: • The threshold to identify hypermobility in children should be at a minimum of ≥ 6 on the Beighton score.


Asunto(s)
Inestabilidad de la Articulación , Humanos , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/epidemiología , Niño , Adolescente , Femenino , Masculino , Prevalencia , Preescolar
4.
Child Abuse Negl ; 153: 106828, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38749147

RESUMEN

BACKGROUND: There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the legal setting as possible causes of unexplained fractures in infants where there is a concern for physical abuse. Further understanding is needed regarding fractures in children with EDS and hypermobility. OBJECTIVE: This study assessed fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH). The secondary outcome was fracture prevalence in infants <1 year of age. PARTICIPANTS AND SETTING: Children aged <18 years with EDS or GJH seen in a single-center EDS clinic from April 2017 to December 2021 were included. Diagnoses were based on the 2017 international classification. Exclusion criteria were concurrent medical conditions associated with bone fragility. METHODS: This retrospective descriptive study examined variables including fracture history, fracture location, fracture type, age of sustaining fracture, and injury mechanism. Descriptive statistics were used for analysis. RESULTS: Fracture prevalence was 34.6 % (9/26, 95 % CI [16.3, 52.9]) in the EDS population and 25.4 % (15/59, 95 % CI [14.3, 36.5]) in the GJH population. No fractures occurred in infancy. Most fractures occurred in the limbs. There were no rib or skull fractures. Most fractures were the result of an identifiable injury event. CONCLUSION: In a cohort of children with formally diagnosed EDS or GJH, fractures occurred commonly in ambulatory children and generally in the limbs from identifiable events. This study does not support EDS or GJH as a cause of fractures in infancy.


Asunto(s)
Síndrome de Ehlers-Danlos , Fracturas Óseas , Inestabilidad de la Articulación , Humanos , Síndrome de Ehlers-Danlos/epidemiología , Síndrome de Ehlers-Danlos/complicaciones , Inestabilidad de la Articulación/epidemiología , Masculino , Femenino , Prevalencia , Estudios Retrospectivos , Preescolar , Niño , Lactante , Fracturas Óseas/epidemiología , Fracturas Óseas/etiología , Adolescente
5.
BMC Musculoskelet Disord ; 25(1): 347, 2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38693507

RESUMEN

BACKGROUND: Benign Joint Hypermobility Syndrome (BJHS) is a most common hereditary connective tissue disorders in children and adolescents. This study aimed to investigate the prevalence and subtypes of headache in children with BJHS. METHODS: This observational-analytical study was conducted in a case-control setting on school children aged 7 to 16 years in 2021-2023 in Isfahan, Iran. Students were examined for BJHS using Beighton criteria by a pediatric rheumatologist. Headache disorder was diagnosed according to the Child Headache-Attributed Restriction, Disability, and Social Handicap and Impaired Participation (HARDSHIP) questionnaires for child and adolescent and International Classification of Headache Disorders (ICHD-III). RESULTS: A total of 4,832 student (mean age 10.3 ± 3.1 years), 798 patients with BJHS and 912 healthy children were evaluated. The probability of headache in children aged 7-11 with hypermobility was 3.7 times lower than in children aged 12-16 with hypermobility (P = 0.001). The occurrence of headache in children with BJHS was more than the control group (P = 0.001), and the probability of headache in children with BJHS was 3.7 times higher than in healthy children (P = 0.001). Migraine was the most common headache type reported of total cases. The probability of migraine in children with BJHS was 4.5 times higher than healthy children ( P = 0.001). CONCLUSION: This study showed a significant correlation between BJHS and headache (especially migraine) in children and adolescents.


Asunto(s)
Cefalea , Inestabilidad de la Articulación , Inestabilidad de la Articulación/congénito , Humanos , Adolescente , Niño , Masculino , Femenino , Estudios de Casos y Controles , Irán/epidemiología , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/complicaciones , Prevalencia , Cefalea/epidemiología , Cefalea/diagnóstico , Síndrome de Ehlers-Danlos/epidemiología , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/complicaciones
6.
J Oral Rehabil ; 51(8): 1390-1400, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38661350

RESUMEN

BACKGROUND: Generalized joint hypermobility as a characteristic feature of Ehlers-Danlos syndromes (EDS) is among the factors contributing to temporomandibular disorders (TMD). OBJECTIVE: To evaluate the prevalence of TMD symptoms and their risk factors among women born in Sweden or Finland who were 27- to 78-year-olds with diagnosed hypermobile EDS (hEDS). METHODS: A cohort of women with confirmed hEDS (n = 185) was constructed from the members of the National EDS Associations in both countries. Based on questionnaire data, frequency of independent variables in terms of socio-demographic, general health and oral health-related factors, comorbid symptoms and psychological distress for self-reported TMD symptoms as the dependent variables, were calculated first. Prevalence ratios (PR) and their 95% confidence interval (95% CI) were estimated for the association between independent and dependent variables. RESULTS: Nearly all participants reported TMD symptoms (98%) with TMD pain (95%), TMJ clicking (90%) and jaw fatigue (80%) as the most common symptoms and TMJ crepitation (63%) and luxation (44%) as the least common symptoms. Risk factors for TMD among 27- to 50-year-olds participants were Finland as a country of birth, living alone and self-reported worst pain in the body (not the joints). The respective risk factors among the 51- to 78-year-olds were Finland as a country of birth, family history of EDS, tinnitus and regularly taking contraceptives. CONCLUSIONS: Among adult women with confirmed hEDS, socio-demographic and health-related factors and comorbid symptoms were significantly associated with TMD but with differences regarding age group. Therefore, management of TMD requires a multidisciplinary approach among the affected.


Asunto(s)
Síndrome de Ehlers-Danlos , Trastornos de la Articulación Temporomandibular , Humanos , Femenino , Trastornos de la Articulación Temporomandibular/epidemiología , Finlandia/epidemiología , Síndrome de Ehlers-Danlos/epidemiología , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/fisiopatología , Suecia/epidemiología , Factores de Riesgo , Persona de Mediana Edad , Adulto , Anciano , Encuestas y Cuestionarios , Prevalencia , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/complicaciones , Inestabilidad de la Articulación/fisiopatología , Autoinforme
7.
PLoS One ; 19(4): e0298649, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38635598

RESUMEN

BACKGROUND: Generalized joint hypermobility is an inherited collagen phenotype based on clinical assessments of joint mobility. However, there is no international consensus to define generalized joint hypermobility, both considering which joint mobility tests should be included and limits for joint hypermobility. OBJECTIVES: The primary aim of the study was to identify a subset of joint mobility tests to define generalized joint hypermobility. A further aim was to evaluate standardized limits for the classification of hypermobility in different joint types throughout the body. METHODS: A total of 255 early pregnant women were included in the study. Joint mobility was measured according to a structured protocol. Correlation and principal component analysis were used to find a subset of joint mobility tests. To classify hypermobility in each joint mobility test, five different standard deviation levels plus 0.84, plus 1.04, plus 1.28, plus 1.64 and plus 2 were used, corresponding to 20%, 15%, 10%, 5% and 2.5% of the normal distribution. RESULTS: No subset of joint mobility test could define generalized joint hypermobility. The higher the standard deviation levels, the higher the limit to classify joint hypermobility and the lower the prevalence. As a result of no subset of joint mobility tests were found to define generalized joint hypermobility, different combinations of major and minor joints in upper and lower limbs and the axial skeleton, were systematically developed. These combinations were evaluated for each standard deviation level, resulting in a prevalence of generalized joint hypermobility between 0% and 12.9% and a clear variation in how the hypermobile joint mobility tests were distributed. CONCLUSION: It is probably not possible to choose a subset of joint mobility tests to define GJH. In order not to overlook generalized joint hypermobility, a broader assessment of different joint types and sizes of joints appears to be needed. The prevalence of generalized joint hypermobility is dependent on joint hypermobility limit and the chosen combination of joint mobility tests.


Asunto(s)
Inestabilidad de la Articulación , Femenino , Humanos , Embarazo , Huesos , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/epidemiología , Extremidad Inferior , Rango del Movimiento Articular
8.
J ISAKOS ; 9(3): 457-463, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38580053

RESUMEN

Prior literature suggests that patellofemoral instability (PFI) is significantly more prevalent in women than in men. This higher prevalence is commonly attributed to anatomical differences between sexes, particularly with patellofemoral alignment. These differences encompass a higher rate of trochlear dysplasia (TD), patella alta, an increased Q angle, and soft tissue imbalances. In recent years, worse outcomes have been reported in female patients after patellofemoral stabilization surgery using medial patellofemoral ligament reconstruction (MPFLr) alone or in combination with a tibial tubercle osteotomy (TTO), for this reason an "à la carte" plan (addressing the individuals anatomical risk factors) could be more appropriate for female patients.


Asunto(s)
Inestabilidad de la Articulación , Osteotomía , Articulación Patelofemoral , Humanos , Inestabilidad de la Articulación/cirugía , Inestabilidad de la Articulación/epidemiología , Femenino , Articulación Patelofemoral/cirugía , Osteotomía/métodos , Masculino , Factores Sexuales , Rótula/cirugía , Tibia/cirugía , Luxación de la Rótula/cirugía , Luxación de la Rótula/epidemiología , Factores de Riesgo , Procedimientos de Cirugía Plástica/métodos
9.
J Pediatr Orthop ; 44(6): e478-e484, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38630916

RESUMEN

BACKGROUND: The long-term radiological outcomes after the treatment of neonatal hip instability (NHI) in developmental dysplasia of the hip are unclear. Therefore, the prevalence of acetabular dysplasia at a mean age of 18 years after treatment was investigated. The relationship between acetabular dysplasia and hip discomfort has also been poorly established. Therefore, the differences in pain, hip-related quality of life (QOL), and hip impingement tests in hips with and without acetabular dysplasia were assessed. METHODS: All 127 patients treated for NHI from 1995 to 2001 at the study hospital and meeting the inclusion criteria were invited to participate in this population-based follow-up. Of these individuals, 88 (69.3%) participated. The lateral center-edge angle (LCEA), Sharp's angle (SA), and acetabular head index (AHI) were calculated for both hips from pelvic anterior-posterior radiographs. The Copenhagen Hip and Groin Outcome Score (HAGOS) questionnaire was completed for both hips separately; the total score, pain, and QOL subscores were calculated; and the impingement test was performed. RESULTS: The prevalence of acetabular dysplasia, defined as an LCEA <20°, was 3.4%. Only the mean AHI (81.1%, SD 5.3) differed (-5.08, 95% CI -5.77 to -4.38, P <0.001) from previously described gender-specific and side-specific means, whereas the mean LCEA and SA did not. The odds ratio for a positive hip impingement test was 2.8 (95% CI: 1.11-7.05, P = 0.029) for hips with an LCEA <25° compared to hips with LCEA ≥25°. The hips with an SA ≥45° had a mean of 7.8 points lower for the HAGOS pain subscore (95% CI: 4.2-11.4, P <0.001) and a mean of 6.1 points lower for the HAGOS QOL subscore (95% CI: 2.1-10.2, P = 0.003) compared with hips with an SA <45°. CONCLUSIONS: The prevalence of acetabular dysplasia was low after treatment for NHI. Acetabular dysplasia seems to be as common in the general population as for those treated for NHI based on the LCEA. Only an SA ≥45° resulted in slightly more pain and lower hip-related QOL.


Asunto(s)
Acetábulo , Inestabilidad de la Articulación , Calidad de Vida , Humanos , Femenino , Masculino , Prevalencia , Adolescente , Estudios de Seguimiento , Inestabilidad de la Articulación/epidemiología , Recién Nacido , Displasia del Desarrollo de la Cadera , Luxación Congénita de la Cadera/terapia , Luxación Congénita de la Cadera/epidemiología , Radiografía , Encuestas y Cuestionarios , Adulto Joven , Dolor/etiología , Dolor/epidemiología , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/fisiopatología
10.
Knee Surg Sports Traumatol Arthrosc ; 32(7): 1700-1709, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38655742

RESUMEN

PURPOSE: The study aimed to estimate the prevalence of ramp lesions among patients undergoing anterior cruciate ligament (ACL) reconstruction and identify risk factors associated with these lesions. METHODS: A retrospective, multicentre cohort study was conducted using data from the Francophone Arthroscopic Society's registry, including 5359 patients who underwent ACL reconstruction (ACLR) from June 2020 to June 2023. Potential risk factors for ramp lesion such as patient demographics, revision surgery, pivot shift, side-to-side anteroposterior laxity, medial collateral ligament (MCL) injury, lateral meniscal tear and the volume of ligament remnant were evaluated using multivariate regression analyses. BMI and delay to surgery were also assessed. RESULTS: Ramp lesions were identified in 822 patients (15.3%). Univariate analysis identified male sex, younger age, revision surgery, lateral meniscal injury, percentage of ACL remnant (all p < 0.0001) and pivot shift (p = 0.0103) as significant risk factors. MCL injury was associated with a lower risk (p < 0.0001). In multivariate analysis, male sex, younger age, revision surgery, lateral meniscal injury and percentage of ACL remnants remained significant risk factors, while MCL injury remained a protective factor. The anteroposterior laxity wasn't a significant predictor in either analysis. In subgroup analysis, there were no differences concerning body mass index (n.s) and the delay to surgery (n.s). CONCLUSION: The study identified male sex, younger age, revision surgery, lateral meniscal injury and pourcentage of ACL remnant as significant risk factors for ramp lesions, with MCL injury acting as a protective factor. This will help regarding the suspicion and identification of ramp lesions. LEVEL OF EVIDENCE: Level III.


Asunto(s)
Lesiones del Ligamento Cruzado Anterior , Reconstrucción del Ligamento Cruzado Anterior , Sistema de Registros , Lesiones de Menisco Tibial , Humanos , Masculino , Femenino , Lesiones del Ligamento Cruzado Anterior/cirugía , Lesiones del Ligamento Cruzado Anterior/epidemiología , Factores de Riesgo , Estudios Retrospectivos , Adulto , Prevalencia , Lesiones de Menisco Tibial/cirugía , Lesiones de Menisco Tibial/epidemiología , Factores de Edad , Persona de Mediana Edad , Reoperación/estadística & datos numéricos , Factores Sexuales , Ligamento Colateral Medial de la Rodilla/lesiones , Ligamento Colateral Medial de la Rodilla/cirugía , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/etiología , Artroscopía , Adulto Joven , Sociedades Médicas
11.
J Int Med Res ; 52(4): 3000605241242582, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38603608

RESUMEN

This narrative review aims to demonstrate and summarize the complex relationship between Ehlers-Danlos syndromes (EDS) and temporomandibular disorders (TMD) by reviewing the results of observational studies and case reports. EDS are a set of hereditary connective tissue disorders, where generalized joint hypermobility (GJH), especially in the hypermobile subtype (hEDS), is a key symptom. Mutations have been identified in genes that impact the production or assembly of collagen for all subtypes except hEDS. While the correlation between GJH and TMD has been analysed in various studies, fewer studies have examined TMD in patients with EDS, with most showing an increased prevalence of TMD. In case-control studies, an elevated prevalence of myalgia, arthralgia and disc-related disorders was found in individuals with EDS. Various therapeutic interventions have been reported within the literature in the form of case reports and observational studies, but there are no long-term clinical trials with results on the efficacy of different therapeutic approaches to date. This review demonstrates the high prevalence of different TMDs in different subtypes of EDS, but also shows that little is known about the success of treatment thus far. Further clinical research is necessary to provide adequate guidance on targeted treatment.


Asunto(s)
Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Trastornos de la Articulación Temporomandibular , Humanos , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Inestabilidad de la Articulación/complicaciones , Inestabilidad de la Articulación/epidemiología , Colágeno , Trastornos de la Articulación Temporomandibular/epidemiología , Trastornos de la Articulación Temporomandibular/etiología , Trastornos de la Articulación Temporomandibular/diagnóstico , Estudios de Casos y Controles
12.
Foot Ankle Surg ; 30(5): 389-393, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38453588

RESUMEN

BACKGROUND: This study aimed to investigate the prevalence of radiographic ankle osteoarthritis (AOA) in Japan and identify its risk factors. METHODS: The analysis included data from the population-based cohort study, radiographs of the knees and ankles, ultrasonography of the ankle to examine chronic ankle instability (CAI), and questionnaires on ankle pain, job history, height, and body weight. A total of 597 individuals aged > 50 years were included in the study. The risk factors for AOA were calculated using multivariate logistic regression analysis. RESULTS: The study revealed a 13.9% prevalence of radiographic AOA among the participants, with 1.2% reporting painful AOA. Female sex, aging, history of ankle fractures, and CAI were identified as the risk factors associated with AOA. CONCLUSIONS: This cross-sectional study highlights the significant prevalence of radiographic AOA in a rural Japanese population, emphasizing the importance of considering ankle fractures and CAI as potential risk factors for AOA development. LEVELS OF EVIDENCE: Level II, prospective cohort study.


Asunto(s)
Articulación del Tobillo , Osteoartritis , Humanos , Femenino , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Transversales , Factores de Riesgo , Osteoartritis/epidemiología , Osteoartritis/diagnóstico por imagen , Articulación del Tobillo/diagnóstico por imagen , Anciano , Japón/epidemiología , Radiografía , Estudios Prospectivos , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/diagnóstico por imagen , Fracturas de Tobillo/epidemiología , Fracturas de Tobillo/diagnóstico por imagen
13.
Eur J Med Genet ; 68: 104930, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38428804

RESUMEN

Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories. This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children. A total of 33 children (mean age 6.4 ± 3.2 years; age range 1-12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the FGFR3 gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers. Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. No significant difference in ligamentous laxity was observed between males and females. Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients, while rare was elbow hypermobility. Longitudinal assessments indicated a decreasing trend in ligamentous laxity scores over time, suggesting a potential decrease in hypermobility issues during adulthood. The findings of this study provide valuable insights into the prevalence and characteristics of ligamentous laxity in ACH. Implementation of standardized ligamentous laxity assessments might guide patients' follow-up and facilitate early interventions, helping to prevent pain and improve outcomes and quality of life for such patients. Further prospective studies are needed to explore the natural history of ligamentous laxity in ACH and investigate the potential impact of emerging pharmacological treatments upon hypermobility.


Asunto(s)
Acondroplasia , Inestabilidad de la Articulación , Osteocondrodisplasias , Masculino , Niño , Preescolar , Femenino , Humanos , Adulto , Lactante , Prevalencia , Calidad de Vida , Inestabilidad de la Articulación/epidemiología , Acondroplasia/epidemiología , Acondroplasia/genética , Estudios Prospectivos
14.
Am J Med Genet A ; 194(2): 174-194, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37774134

RESUMEN

The most common conditions with symptomatic joint hypermobility are hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). Diagnosing these overlapping connective tissue disorders remains challenging due to the lack of established causes and reliable diagnostic tests. hEDS is diagnosed applying the 2017 diagnostic criteria, and patients with symptomatic joint hypermobility but not fulfilling these criteria are labeled as HSD, which is not officially recognized by all healthcare systems. The 2017 criteria were introduced to improve diagnostic specificity but have faced criticism for being too stringent and failing to adequately capture the multisystemic involvement of hEDS. Herein, we retrospectively evaluated 327 patients from 213 families with a prior diagnosis of hypermobility type EDS or joint hypermobility syndrome based on Villefranche and Brighton criteria, to assess the effectiveness of the 2017 criteria in distinguishing between hEDS and HSD and document the frequencies of extra-articular manifestations. Based on our findings, we propose that the 2017 criteria should be made less stringent to include a greater number of patients who are currently encompassed within the HSD category. This will lead to improved diagnostic accuracy and enhanced patient care by properly capturing the diverse range of symptoms and manifestations present within the hEDS/HSD spectrum.


Asunto(s)
Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Humanos , Estudios Retrospectivos , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/epidemiología , Estudios Transversales , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiología , Italia/epidemiología
15.
J Foot Ankle Surg ; 63(1): 27-32, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37597584

RESUMEN

The purpose of this paper is to assess the prevalence and injury patterns of the calcaneofibular ligament (CFL) in chronic lateral ankle instability (CAI) patients using ultrasound imaging. This retrospective study included 938 ankle ultrasound images from January 2016 to May 2018. The patients' demographic data and the injury pattern classified by the injury location and the remnant quality were recorded and correlated using t tests, Fisher's exact tests, and post hoc tests accordingly. Of the 938 CAI patients, CFL injury was found in 408/938 (44%). Among the 408 anterior talofibular ligament (ATFL) and CFL complex injury patients, 71/408 (17%) presented with a completely absorbed ATFL, whereas 13/71 (18%) presented with an absorbed CFL. The total CFL absorption proportion in all patients was relatively low (30/938 = 3%). Post hoc tests indicated a negative association between thickened ATFLs and complex injuries. In addition, a positive association existed between absorbed ATFLs and complex injuries as well as absorbed ATFLs and absorbed CFLs. Thus, the results indicated that total tearing and absorption injury patterns of the CFL in CAI are not common. Even when the ATFL is absorbed, only approximately one-fifth (13/71 = 18%) of CFLs require reconstruction, suggesting that it is unnecessary to routinely repair or reconstruct CFLs in all lateral ligament surgeries.


Asunto(s)
Inestabilidad de la Articulación , Ligamentos Laterales del Tobillo , Humanos , Ligamentos Laterales del Tobillo/cirugía , Tobillo , Estudios Retrospectivos , Prevalencia , Estudios Transversales , Articulación del Tobillo/diagnóstico por imagen , Articulación del Tobillo/cirugía , Ligamentos , Inestabilidad de la Articulación/diagnóstico por imagen , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/etiología , Ultrasonografía
16.
Laryngoscope ; 134(2): 773-778, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37597175

RESUMEN

OBJECTIVE: The aim was to study laryngological complaints in patients with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD). METHODS: A total of 363 patients met inclusion for the study by completing questions related to voice, upper airway, and swallowing between July 7, 2020 and July 13, 2022. Demographic data, voice-related questions, and hypermobility diagnosis were analyzed retrospectively. From those, 289 patients were diagnosed with hEDS or HSD with 74 that did not meet the diagnostic criteria for either diagnosis serving as controls. RESULTS: There were no statistically significant differences between patients with hEDS and HSD regarding Voice Handicap Index (VHI-10) scores, voice, upper airway, or swallow complaints. However, more hEDS/HSD patients answered positively to the laryngeal dysfunction question versus controls (p = 0.031). 22.5% of hEDS/HSD patients (n = 65) reported hoarseness, of which 52.3% reported hoarseness >2 days/month. 33.9% (n = 98) with hEDS/HSD reported symptoms of dysphagia, and 27.0% (n = 78) reported laryngeal dysfunction symptoms. Controls demonstrated 20.3% prevalence of hoarseness, of which 46.7% reported hoarseness >2 days/month. 24.3% of controls had dysphagia and 14.9% laryngeal dysfunction symptoms. Of the 363 patients, VHI-10 scores >11 were more likely in patients reporting >2 days of hoarseness/month (p = 0.001) versus those with <2 days of hoarseness/month. There was an increased prevalence of voice, upper airway, and dysphagia symptoms in hEDS/HSD patients compared with previously reported prevalence data in the general population. CONCLUSION: A significant proportion of patients diagnosed with hypermobility due to hEDS or HSD were found to have voice, upper airway, and dysphagia symptoms. These rates are higher than those previously reported in the general population. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:773-778, 2024.


Asunto(s)
Trastornos de Deglución , Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Humanos , Prevalencia , Ronquera , Trastornos de Deglución/epidemiología , Trastornos de Deglución/etiología , Estudios Retrospectivos , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/diagnóstico , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/epidemiología , Síndrome de Ehlers-Danlos/diagnóstico
17.
Sports Health ; 16(3): 465-472, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37208906

RESUMEN

BACKGROUND: Vitamin D has been proven experimentally to affect musculoskeletal health. The purpose of this study was to identify the relationship between vitamin D deficiency and patellar instability. HYPOTHESIS: Vitamin D deficiency is associated with an increased risk of experiencing primary patellar instability and recurrent patellar dislocation after primary surgical stabilization. STUDY DESIGN: Retrospective comparative study. LEVEL OF EVIDENCE: Level 3. METHODS: A 1:1 matched retrospective study of 328,011 patients diagnosed with vitamin D deficiency was performed using the PearlDiver database. Incidence of primary patellar instability was calculated according to sex and age. Rates of primary patellar instability and surgical stabilization for recurrent dislocation were calculated with sex- and age-specific stratifications. Multivariable logistic regression was used to compare the rates of primary injury and recurrent stabilization while controlling for demographics and medical comorbidities. RESULTS: A total of 656,022 patients were analyzed. The overall 1-year incidence rate of patellar instability in patients with vitamin D deficiency was 82.6 per 100,000 person-years (95% CI, 73.2-92.9), compared with 48.5 (95% CI, 41.4-56.5) in the matched control. Women were significantly more likely to experience primary patellar instability within 1 (adjusted odds ratio [aOR] = 1.45; 95% CI, 1.12-1.88) and 2 years (aOR, 1.31; 95% CI, 1.07-1.59) of hypovitaminosis D diagnosis. Patients aged 10 to 25 years with hypovitaminosis D were at greater risk of requiring recurrent patellar stabilization for both men (aOR, 2.48; 95% CI, 1.06-5.80) and women (aOR, 1.77; 95% CI, 1.04-3.02). CONCLUSION: Patients diagnosed with vitamin D deficiency experienced higher rates of primary patellar instability and have greater risk of requiring recurrent surgical stabilization for subsequent dislocations. CLINICAL RELEVANCE: These results suggest that monitoring and proactively treating vitamin D deficiency in the physically active patient may lower the risk of suffering primary patellar instability or recurrence after surgical stabilization.


Asunto(s)
Luxaciones Articulares , Inestabilidad de la Articulación , Luxación de la Rótula , Articulación Patelofemoral , Deficiencia de Vitamina D , Masculino , Humanos , Femenino , Estudios Retrospectivos , Luxación de la Rótula/epidemiología , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/cirugía , Recurrencia , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/epidemiología
18.
Arthroscopy ; 40(2): 581-591.e1, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-37270111

RESUMEN

PURPOSE: To evaluate the incidence of postoperative complications after an isolated primary Latarjet procedure for anterior shoulder instability at a minimum 2-year follow-up. METHODS: A systematic review was performed in accordance with 2020 PRISMA guidelines. EMBASE, Scopus, and PubMed databases were queried from database inception through September 2022. The literature search was limited to human clinical studies reporting on postoperative complications and adverse events after a primary Latarjet procedure with a minimum 2-year follow-up. Risk of bias was measured using the Newcastle-Ottawa Scale. RESULTS: Twenty-two studies, consisting of 1,797 patients (n = 1,816 shoulders), with a mean age of 24 years were identified. The overall postoperative complication rate ranged from 0% to 25.7%, with the most common complication being persistent shoulder pain (range: 0%-25.7%). Radiological changes included graft resorption (range: 7.5%-100%) and glenohumeral degenerative changes (range: 0%-52.5%). Recurrent instability following surgery was documented in 0% to 35% of shoulders, while the incidence of bone block fractures ranged from 0% to 6% of cases. Postoperative nonunion, infection, and hematomas had a reported incidence rate ranging from 0% to 16.7%, 0% to 2.6%, and 0% to 4.4%, respectively. Overall, 0% to 7.5% of surgeries were reported failures, and 0% to 11.1% of shoulders required reoperation, with a revision rate ranging from 0% to 7.7%. CONCLUSIONS: The incidence of complications following the primary Latarjet procedure for shoulder instability was variable, ranging from 0% to 25.7%. High rates of graft resorption, degenerative changes, and nonunion were present while failure and revision rates remained low at a minimum 2-year follow-up. LEVEL OF EVIDENCE: Level III, systematic review of Level I-III studies.


Asunto(s)
Inestabilidad de la Articulación , Luxación del Hombro , Articulación del Hombro , Humanos , Adulto Joven , Adulto , Hombro/cirugía , Articulación del Hombro/cirugía , Luxación del Hombro/cirugía , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/cirugía , Inestabilidad de la Articulación/complicaciones , Recurrencia , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Artroscopía/métodos
19.
J Investig Med ; 72(1): 162-168, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37858959

RESUMEN

Joint hypermobility syndrome (JHS) is a non-inflammatory hereditary disorder of connective tissue with varied clinical presentations, including frequent joint dislocations, hyperextensible skin, easy bruising, and abnormal paper-thin scar formation. Many of these patients have unexplained gastrointestinal (GI) symptoms. Our aim was to evaluate the prevalence of JHS in a tertiary gastroenterology motility clinic and the spectrum of functional bowel disorders in JHS patients. In this retrospective case series, we screened the medical records of 277 patients seen over 4 years at an academic GI Motility Center. The patients who met the criteria for JHS by Beighton hypermobility score were evaluated for the presence of functional GI disorders by Rome IV criteria. They also underwent gastric emptying study and glucose breath testing for small intestinal bacterial overgrowth. The prevalence of JHS in the study population was 9.7%. The mean age was 27 years, and 92.5% were female. The symptoms experienced by these patients include nausea/vomiting (89%), abdominal pain (70%), constipation (48%), and bloating (18.5%). The disorders associated with JHS include gastroparesis (52%), irritable bowel syndrome (55.5%), and gastroesophageal reflux disease (30%). Also, 10 patients (37%) were diagnosed with postural hypotension tachycardia syndrome secondary to autonomic dysfunction. Approximately 10% of patients with suspected functional bowel disorders have hypermobility syndrome. Hence, it is crucial to familiarize gastrointestinal practitioners with the criteria utilized to diagnose JHS and the methods to identify physical examination findings related to this condition.


Asunto(s)
Enfermedades Gastrointestinales , Síndrome del Colon Irritable , Inestabilidad de la Articulación , Síndrome de Taquicardia Postural Ortostática , Humanos , Femenino , Adulto , Masculino , Inestabilidad de la Articulación/complicaciones , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/epidemiología , Síndrome del Colon Irritable/complicaciones , Estudios Retrospectivos , Enfermedades Gastrointestinales/complicaciones , Enfermedades Gastrointestinales/epidemiología
20.
Clin Sports Med ; 42(4): 723-737, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37716734

RESUMEN

Sternoclavicular joint instability is a rare complaint in the orthopedic clinic, but patients can experience chronic pain and functional impacts. Causes of instability may be posttraumatic, infectious, autoimmune, degenerative, or secondary to generalized laxity. Conservative treatment is the initial approach to management and involves activity modification, physical therapy, oral nonsteroidal anti-inflammatory drugs, and corticosteroid injections. Surgery is indicated when conservative treatment does not manage symptoms. Figure-of-eight reconstruction techniques provide greatest biomechanical strength but are associated with risk of neurovascular injury. Other reconstruction methods have been shown to mitigate these risks with favorable short-term outcomes.


Asunto(s)
Inestabilidad de la Articulación , Articulación Esternoclavicular , Lesiones del Sistema Vascular , Humanos , Prevalencia , Tratamiento Conservador , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/etiología , Inestabilidad de la Articulación/terapia
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