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At least 19 recordsLinked to original sources
PubMed1979

Hip joint instability after the neonatal period. I. Value of measuring the acetabular angle.

The acetabular angle was measured by two independent observers in a consecutive series of 29 infants with idiopathic instability of the hip. The diagnosis was made at the age of 1 1/2 to 21 months, and was confirmed by arthrography. The average difference in the measurement values between the two observers was less than 2 degrees. In infants with unilateral instability the acetabular angle was always greater on the unstable side. This difference decreased after treatment. Criteria for pathologic angles are discussed. Measurement of the acetabular angle is of greatest value for assessing the effect of treatment, but is of limited usefulness in diagnosing instability, especially during the first 6 months of life, as the cartilaginous component of the joint is not included in the measurement. Arthrography is recommended in cases difficult to evaluate.

Acetabulum↗
PubMed1979

[Intra-articular or extra-articular substitution of cruciate ligament--a critical study (author's transl)].

Intra- and extra-articular methods of cruciate ligament substitution are available for treating old anteromedial knee-joint instability. Twelve patients with intra-articular cruciate ligament substitution (median third of the patellar ligaments as free transplant) and 24 patients with extra-articular cruicate ligament substitution (operation according to Nciholas) were examined with particular reference to improved stability as follow-up examinations, the results being subjected to comparative evaluation. Intra-artricular cruciate ligament substitution reduces or eliminates the pre-operative instability of the joint which is due to insufficiency of the cruciate liagment, whereas the extra-articular cruciate ligament substitution produces a significantly more frequent reduction of elimination of the instability of the valgus position and of the anteromedial instability. The combination of both methods to remove anteromedial instability of the knee joint may seem a very useful solution of the problem, but it should be limited to a restricted group of patients because it involves also contain disadvantages which make it unsuitable for indiscriminate application.

Aftercare↗
PubMed1975

[Closed complete dislocations of the crus and the result of their treatment].

Based on the analysis of treatment of 22 patients with complete closed crural dislocations, it is emphasized that this trauma is associated with extensive and specific injuries to the articular elements. Concomitant injuries of popliteal vessels were found in 4 (of 22) cases. Timely performed operative restoration of the arterial integrity yielded favourable late results in 2 patients. Two patients admitted in later terms were subjected to a high amputation of the leg. In 15 patients the knee joint instability developed due to ligamental rupture in crural dislocation. Eleven patients from this group were operated upon, plastic reconstruction of ruptured lateral and crucial ligaments and the removal of injured meniscuses being accomplished in them. Persistant good and satisfactory functional results were gained in 10 cases. Only one poor issue was noted.

Adolescent↗
PubMed1978

Symphyseal and sacroiliac joint pain associated with pubic symphysis instability.

Fifty patients presenting with lumbosacral and inguinal pain were examined by routine clinical radiographic and electromyographic evaluations. All were without antecedent history of major pelvic trauma or spinal surgery but demonstrated evidence of pubic symphysis instability. Slip between the pubic rami in excess of 2 mm could be demonstrated in each with alternate leg weight bearing. Asymmetry of hip mobility on the symptomatic side with a reduction in abduction and external rotation was present in 20 patients. An approach to treatment of pain associated with pubic symphyseal and associated sacroiliac joint instability is described, combining both intraarticular steroids, lumbosacral supports and physical therapy modalities.

Adolescent↗
PubMed2026

Primary ACL Repair and Reconstruction in Isolated ACL Ruptures: Forgotten Joint Scores and the Association Between Residual Laxity and Joint Awareness.

BACKGROUND: Primary anterior cruciate ligament (ACL) repair has recently reemerged as a treatment option for carefully selected proximal ACL tears. However, evidence regarding patient-reported joint awareness and the relationship between postoperative laxity and joint awareness remains limited. PURPOSE: To compare joint awareness, clinical outcomes, and postoperative laxity between primary ACL repair and hamstring tendon autograft reconstruction in carefully selected patients with isolated ACL rupture, and to explore the association between residual laxity and postoperative joint awareness. STUDY DESIGN: Cohort study; Level of evidence, 3. METHODS: This retrospective cohort study included 85 patients with isolated ACL rupture treated with either primary ACL repair (n = 26) or hamstring autograft reconstruction (n = 59), with a minimum follow-up of 24 months. Clinical outcomes, including visual analog scale score, Lysholm score, International Knee Documentation Committee (IKDC) score, Tegner activity scale score, postoperative knee laxity, return to sport, and rerupture rates, were evaluated. The authors also used the Forgotten Joint Score-12 (FJS-12), a measure of joint awareness, to evaluate patients. A higher score reflects lower joint awareness, suggesting function more similar to a native knee. Multivariable regression analyses were performed to evaluate variables associated with postoperative FJS-12 values. RESULTS: No differences were observed between groups in postoperative Lysholm, IKDC, and Tegner activity scale scores; Lachman- and pivot-shift-assessed postoperative laxity; and return-to-sport rates. However, postoperative FJS-12 values were significantly higher in the repair group compared with the reconstruction group (87.0 &#xb1; 15.0 vs 77.5 &#xb1; 14.2; mean difference, 9.5 points [95% CI, 2.8-16.3]; P = .006), corresponding to a moderate effect size (Cohen d = 0.66). Secondary exploratory regression analyses demonstrated that residual postoperative laxity was associated with lower postoperative FJS-12 values in both Lachman- and pivot-shift-based models (R2 = 0.649 and 0.680, respectively; P < .001 for both). CONCLUSION: In carefully selected patients with proximal ACL tears and adequate tissue quality, no significant between-group differences were detected in conventional clinical outcomes, postoperative laxity, return-to-sport rates, or rerupture rates between primary ACL repair and reconstruction. Primary ACL repair was associated with higher postoperative FJS-12 values at short- to midterm follow-up, suggesting function more similar to that of a native knee. Residual postoperative laxity was associated with lower FJS-12 values in secondary exploratory analyses.

Humans↗
PubMed2026

Anatomy and Biomechanics of the Deltoid Ligament Complex in Healthy Ankles: Protocol for a Systematic Review and Meta-Analysis.

INTRODUCTION: Up to one in two individuals who have a history of an ankle injury will develop chronic ankle instability, which subsequently increases the risk of osteoarthritis development. Although lateral ankle ligament injuries are the most common, recent research shows that concomitant injuries to the deltoid (medial collateral) ligament complex may be more prevalent than previously recognised. However, the anatomy and biomechanics of the deltoid ligament complex are reported inconsistently in the literature. This systematic review will summarise current evidence on the anatomy and biomechanics of the deltoid ligament complex in healthy adult ankles. METHODS: Searches will be conducted in Scopus, MEDLINE, Embase, CINAHL and SPORTDiscus. Our search strategy will cover terms associated with 'deltoid ligament', 'anatomy' and 'biomechanics'. We will only include dissection and imaging studies published in English that report any of the listed clinically relevant properties of the deltoid ligament in healthy adult human ankles. Two reviewers will independently perform screening and assess study quality using the anatomical quality assessment (AQUA) tool. One reviewer will extract relevant data, which will be independently verified by co-authors. Primary outcomes include band prevalence, length, width, cross-sectional area, maximum and/or failure load and elastic modulus. If three or more studies report a primary outcome, we will conduct a meta-analysis and report findings as pooled means with 95% confidence intervals. If a meta-analysis is not feasible, outcomes will be summarised as a narrative analysis. Measures will be taken during data synthesis to address anticipated methodological heterogeneity across included studies, and pooled estimates will be interpreted with caution. DISCUSSION: This protocol details a systematic review that aims to summarise the anatomy and biomechanics of the deltoid ligament complex. Our findings will inform computational modelling, clinical management and biomechanics for ankle pathologies, as well as identifying research gaps and directions for future research. TRIAL REGISTRATION: PROSPERO: CRD420251142867.

Humans↗
PubMed2025

Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.

The phenotypic similarities and genetic heterogeneity occurring in diverse forms of Ehlers Danlos Syndrome (EDS) subtypes and many heritable connective tissue disorders can pose a diagnostic challenge. In the wake of the growing applications of next-generation sequencing technologies including exome and genome sequencing, opportunities for achieving definitive genetic diagnosis are increasingly arising. We present a 46-year-old man with joint laxity, recurrent joint subluxations, pelvic floor dysfunction, and postural orthostatic tachycardia syndrome (POTS), who was referred for EDS assessment. His medical history included morbid obesity requiring gastric bypass surgery,&#xa0;hearing loss, asthma, retinopathy,&#xa0;myopia, atrial septal defect, narcolepsy&#xa0;with&#xa0;cataplexy, polyneuropathy, folliculitis, lichen&#xa0;simplex&#xa0;chronicus, atopic&#xa0;dermatitis,&#xa0;and&#xa0;hypogonadism. His family history was significant for multiple first- and second-degree relatives who died from cardiac diseases including cases of childhood deaths. Physical examination showed joint laxity with Beighton score of 3/9, bilateral pes planus, hearing loss and macrocephaly. Exome sequencing revealed heterozygous variants LMNA c.1262&#xa0;T&#x2009;>&#x2009;C p.L421P [classified as likely pathogenic], FLG c.2282_2285del p. S761Cfs*36 [classified as pathogenic], and FLG c.1501 C&#x2009;>&#x2009;T p. R501* [classified as pathogenic]. Mitochondria&#xa0;sequencing&#xa0;revealed a variant of uncertain significance (VUS), MT-ND2 m.5047&#xa0;T&#x2009;>&#x2009;C p.V193A that is present at 9% heteroplasmy in blood. These findings show co-occurrence of pathogenic sequence variants in neighboring genes located in chromosome 1q2 region [LMNA and FLG] in a patient with features of hereditary connective tissue disorders. Our study highlights the capability of exome sequencing in achieving some actionable diagnosis in cases of co-morbid genetic disorders with overlapping and non-specific symptoms.

Humans↗
PubMed2026

Lower androgen sulfate metabolites in women with hypermobile Ehlers-Danlos syndrome may be associated with changed metabolism and disposition.

Hypermobile Ehlers-Danlos Syndrome (hEDS), characterized by joint hypermobility and multisystem involvement, is the most common type of EDS. Its comorbidities are wide-ranging, reflecting the involvement of connective tissue and its role in a multitude of processes. hEDS has been hypothesized to have hormonal aspects since the disorder is diagnosed more often in women and symptom changes closely correlate with hormonal shifts. To better understand the etiology and biochemical changes in hEDS and its comorbidities, a multiple-omics study was performed in women, controls (n&#x202f;=&#x202f;45) and those with hEDS (n&#x202f;=&#x202f;45), alongside the collection of questionnaires related to symptom severity. Metabolomic evaluation was performed on serum samples and RNA isolated from fibroblasts cultured from skin punches was analyzed for transcriptomics. Samples from hEDS patients had statistically significantly lower levels of multiple androgen sulfate metabolites, compared with controls, driven largely by participants aged 30-49. Changes to other classes of steroid hormones (corticosteroids, progestogens, and estrogens) were largely not significant between hEDS and control groups. Transcriptomics of skin fibroblasts from hEDS patients revealed downregulation of multiple enzymes involved in biosynthesis, metabolism, and disposition of androgens, compared with controls. Multiple steroid hormones correlated with symptoms surveyed in 18-29 year old participants with hEDS. Shifts in steroid hormone metabolites in hEDS compared with controls may be due to changes to metabolism and disposition, but more validation is necessary to be conclusive. This data provides insights into the unclear links between steroid hormones and hEDS and its comorbidities.

Humans↗
PubMed2024

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment. SBBYSS results from heterozygous mutations in the KAT6B (MYST4/MORF/QFK) gene and is characterized by intellectual disability and autism-like behaviors. Using human cells carrying SBBYSS-specific KAT6B mutations and Kat6b heterozygous mice (Kat6b+/-), we showed that KAT6B deficiency caused a reduction in histone H3 lysine 9 acetylation. Kat6b+/- mice displayed learning, memory, and social deficits, mirroring SBBYSS individuals. Treatment with a histone deacetylase inhibitor, valproic acid, or an acetyl donor, acetyl-carnitine (ALCAR), elevated histone acetylation levels in the human cells with SBBYSS mutations and in brain and blood cells of Kat6b+/- mice and partially reversed gene expression changes in Kat6b+/- cortical neurons. Both compounds improved sociability in Kat6b+/- mice, and ALCAR treatment restored learning and memory. These data suggest that a subset of SBBYSS individuals may benefit from postnatal therapeutic interventions.

Animals↗
PubMedDate not supplied

[Posturographic study of total prostheses in the leg. Apropos of 88 patients examined].

By suppressing certain articular sensory receptors, the reconstructive surgery of joints using total prostheses modifies tonic postural activity and, by this means, alters the regulation of balance in the subjects of operation. This doubtless explains certain discrepancies between the apparently excellent results in respect of joint movement and muscle strength and poor utilisation of the joint in every day life (instability, use of sticks or failure to use the joint in walking). Drawing on the experience and basic work of specialists in posture, the authors have undertaken a study of tonic postural activity in patients who had received a total prosthesis in the lower limb, both from the clinical aspect and by graphic measurement using an electronic apparatus, the statokinesiometer. Fourteen normal subjects were tested to calibrate the apparatus and 8 patients suffering from established osteoarthritis of the hip were studied as controls. Analysis of tonic postural activity was made in 66 patients who had received total prostheses in the lower limb. The results showed significant disturbance in balance in ankle prostheses, minimal disturbance in knee prostheses and not significant disturbance in hip prostheses. Certain therapeutic implications are derived from this study.

Adult↗
PubMed1976

Degenerative spondylolisthesis: surgical treatment.

Degenerative spondylolisthesis occurs most frequently at the 4th lumbar vertebra in aging females. It does not occur before the fifth decade or in conjunction with neural arch defects. The amount of slipping does not exceed 30 per cent. The forward slipping occurs as a result of forward remolding of the z-a joints secondary to localized degenerative arthritis of these joints. The degenerative arthritis results from instability of L4 in spines which are unduly stable at the lumbosacral level. The degenerative changes and the forward slipping combine to produce localized spinal stenosis which may compress the nerve roots and cauda equina. The cardinal symptom is pain in the low back and/or lower extremity. It is characterized by remissions and is usually not incapacitating. Ten per cent of patients have sufficient pain and disability to require surgical decompression which is best accomplished by excision of the distal half of the laminae and spinous process of the slipped vertebra and the proximal half of the laminae and spinous process of the slipped vertebra. The medial half of each z-a joint is also excised to complete the decompression. If the decompression is adequate lasting relief of pain can be expected, but some low back symptoms due to instability may be noted postoperatively. These symptoms diminish with the passage of time.

Adult↗
PubMed1978

Cervical-spine instability in children with Down syndrome (trisomy 21).

Eighty-five children with Down syndrome, between sixteen months and eighteen years old, were evaluated for instability of the cervical spine at the atlanto-axial joint. The mean atlas-odontoid process interval was three millimeters in flexion and two millimeters in extension. Ten patients (12 per cent) exhibited abnormal intervals (4.5 millimeters or more) during either flexion or extension. The configuration of the odontoid process was considered normal in eighty patients and abnormal in another five patients (6 per cent). The correlation between the thickness of the interval and the degree of ligament laxity was statistically significant, as was the correlation between ligament laxity and age. Of the ten patients with an increased atlas-odontoid process interval, neurological deficit (hyperreflexia and clonus) developed in only one after a one-year follow-up.

Adolescent↗
PubMed1975

A new consideration in athletic injuries. The classical ballet dancer.

The professional ballet dancer presents all of the problems of any vigorous athlete. The problems include osteochondral fractures, fatigue fractures, sprains, chronic ligamentous instability of the knee, meniscal tears, impingement syndrome, degenerative arthritis of multiple joints and low back pain. Attention to minor problems with sound conservative therapy can avoid many major developments and lost hours. Observations included the extraordinary external rotation of at the hip without demonstrable alteration in the hip version angle and hypertrophy of the femur, tibia and particularly the second metatarsal (in female dancers). Careful evaluation of the range of motion of the extremities, serial roentgenographic examination, and systematic review of previous injuries, training programs and rehearsal techniques have been evaluated in a series of cases to provide the basis for advice to directors and teachers of the ballet.

Achilles Tendon↗