Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.

Ehlers-Danlos syndrome is a group of connective tissue disorders with 14 subtypes, involving joint hyperlaxity, tissue fragility, hypertensive skin and other systemic organs with an incidence of 1 in 1 000 000 worldwide. We report a middle childhood female born of second degree consanguineous marriage with limping gait with muscle weakness, with normal development and IQ. Examination revealed microcornea, distal joint laxity of fingers and wrist, hypotonia and broad-based limping gait. Fracture dislocation right hip was managed by fixation. With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlos syndrome (musculocontractural type-1). Hence, genetic counselling was done and prognosis of the child was explained.

Modified-tension band suturing: 'the pulling the reins technique' - a technique for displaced proximal humeral fracture with medial column instability.

Fractures of the proximal humerus with medial column instability are challenging and present an unacceptable rate of complications and reoperations. Despite good results reported with the use of locking plates and augmentation techniques using bone graft or a second plate, varus subsidence and fixation failure have been frequently reported. We describe the case of a patient presenting with a complex, multifragmentary proximal humerus fractures successfully treated with open anatomic reduction and internal fixation using a locking plate augmented with lateral traction using three bone anchors in the humerus head. After 18 months, the patient reported fully recovering the mobility and functionality of the operated shoulder. The use of bone anchors pulling the humeral in three different directions like three vectors applied from medial to lateral, posterior to anterior and lateral to anterior help to reduce the most important deformities (varus and retroversion) by applying the tension band principle. This is an interesting approach to avoid primary and secondary reduction loss of the proximal fractures of the humerus with postero-medial cortical defect. The procedure is a good alternative to be used in patients with failure or insufficiency of the medial wall and marked varus.

[Radial Head Replacement: Management of Elbow and Forearm Instability after Comminuted Radial Head Fractures Associated with Elbow Dislocation]. / Endoprotéza hlavice radia: resení nestability lokte a predloktí pri trístivých zlomeninách hlavice radia spojených s luxací lokte.

PURPOSE OF THE STUDY: This manuscript aims to identify an indication algorithm for the surgical treatment of radial head fractures associated with elbow dislocation. The study compares the mid-term functional outcomes of patients with multifragment radial head fracture treated by resection with the outcomes of patients treated with radial head replacement. MATERIAL AND METHODS: The cohort of 34 patients who sustained a radial head fracture at the mean age of 42.5 years (age range 20-81 years) was broken down into two groups by type of surgery. The EXT group consists of 20 patients with the radial head fracture treated by radial head resection. The END group includes 14 patients treated with the radial head replacement. In all patients, the radial head fracture was associated with elbow dislocation (type IV fracture according to the Mason-Johnston classification). The modified Kocher's surgical approach was used in all patients of both the groups. In the EXT group, resection of the fragmented radial head was performed. In the END group, the ExploR® Modular Radial Head System (Zimmer, Biomet, USA) was used, consisting of a CoCr (cobalt chromium) alloy head and a titanium stem. The pain and the range of motion of the elbow and forearm were evaluated after the completion of the outpatient rehabilitation (the mean follow-up period was 2.4 years). Simultaneously, the elbow joint stability was assessed. Radiographs were taken to detect heterotopic ossifications, proximalization of the radius, and any signs of prosthesis loosening. The frequency of reoperations was followed-up. The MEPS (Mayo Elbow Performance Score) was calculated. RESULTS: In the EXT group, the mean elbow flexion was 117.5° and the mean pronation/supination was 166.9°. In 50% of patients, the MEPS obtained was greater than 90 points, which means an excellent functional outcome. In 1 patient (5%), recurrent elbow dislocation occurred which was the reason for revision surgery (elbow transfixation with the Kirschner wires and medial collateral ligament suture). Revision surgery was also performed in 2 patients (10%) in whom not all the radial head fragments were removed. Moreover, also observed was elbow joint instability (2 patients) and temporary radial nerve paralysis (1 patient). In 1 case discrete proximalization of the radius developed. The patients in the END group showed the mean elbow flexion of 112° and the mean pronation/supination of 135°. The MEPS obtained from 69% of patients was greater than 90 points, which means an excellent outcome. The pain under load was reported by 3 patients (21%). In 5 patients (35%), the X-rays showed radiolucent zone around the stem of the prosthesis. Neither revision surgery, nor prosthesis removal has been performed yet in any patient. No instability, neurological complications or infections have been reported. In both EXT and END group heterotopic ossifications have developed in 4 patients. CONCLUSIONS: Radial head replacement compared to the radial head resection in the management of multifragment fractures associated with elbow dislocations increase the elbow and forearm stability. The group of patients with an implanted radial head prosthesis shows a higher percentage of patients achieving excellent functional outcome than the group of patients with radial head resection. KEY WORDS: radial head, elbow, fracture, dislocation, resection, prosthesis.

Global intracranial arterial tortuosity is associated with intracranial atherosclerotic burden.

The effect of arterial tortuosity on intracranial atherosclerosis (ICAS) is not well understood. This study aimed to evaluate the effect of global intracranial arterial tortuosity on intracranial atherosclerotic burden in patients with ischemic stroke. We included patients with acute ischemic stroke who underwent magnetic resonance angiography (MRA) and classified them into three groups according to the ICAS burden. Global tortuosity index (GTI) was defined as the standardized mean curvature of the entire intracranial arteries, measured by in-house vessel analysis software. Of the 516 patients included, 274 patients had no ICAS, 140 patients had a low ICAS burden, and 102 patients had a high ICAS burden. GTI increased with higher ICAS burden. After adjustment for age, sex, vascular risk factors, and standardized mean arterial area, GTI was independently associated with ICAS burden (adjusted odds ratio [adjusted OR] 1.33; 95% confidence interval [CI] 1.09-1.62). The degree of association increased when the arterial tortuosity was analyzed limited to the basal arteries (adjusted OR 1.48; 95% CI 1.22-1.81). We demonstrated that GTI is associated with ICAS burden in patients with ischemic stroke, suggesting a role for global arterial tortuosity in ICAS.

Three-dimensional magnetic resonance imaging-based statistical shape analysis and machine learning-based prediction of patellofemoral instability.

This study performed three-dimensional (3D) magnetic resonance imaging (MRI)-based statistical shape analysis (SSA) by comparing patellofemoral instability (PFI) and normal femur models, and developed a machine learning (ML)-based prediction model. Twenty (19 patients) and 31 MRI scans (30 patients) of femurs with PFI and normal femurs, respectively, were used. Bone and cartilage segmentation of the distal femurs was performed and subsequently converted into 3D reconstructed models. The pointwise distance map showed anterior elevation of the trochlea, particularly at the central floor of the proximal trochlea, in the PFI models compared with the normal models. Principal component analysis examined shape variations in the PFI group, and several principal components exhibited shape variations in the trochlear floor and intercondylar width. Multivariate analysis showed that these shape components were significantly correlated with the PFI/non-PFI distinction after adjusting for age and sex. Our ML-based prediction model for PFI achieved a strong predictive performance with an accuracy of 0.909 ± 0.015, and an area under the curve of 0.939 ± 0.009 when using a support vector machine with a linear kernel. This study demonstrated that 3D MRI-based SSA can realistically visualize statistical results on surface models and may facilitate the understanding of complex shape features.

Patellar Instability: Imaging Findings.

Patellofemoral instability results from impaired engagement of the patella in the trochlear groove at the start of flexion and may lead to pain and lateral patellar dislocation. It occurs most frequently in adolescents and young adults during sporting activities. Trochlear dysplasia, patella alta, and excessive lateralization of the tibial tuberosity are the most common risk factors for patellar instability. The main role of imaging is to depict and assess these anatomical factors and highlight features indicating previous lateral dislocation of the patella.

Demystifying the "Dark Side of the Knee": An Update on Imaging of the Posterolateral Corner.

The posterolateral corner (PLC) of the knee is a complex anatomical-functional unit that includes ligamentous and tendinous structures that are crucial for joint stability. This review discusses the intricate anatomy, biomechanics, and imaging modalities, as well as the current challenges in diagnosing PLC injuries, with an emphasis on magnetic resonance imaging (MRI). Recognizing the normal MRI anatomy is critical in identifying abnormalities and guiding effective treatment strategies. Identification of the smaller structures of the PLC, traditionally difficult to depict on imaging, may not be necessary to diagnose a clinically significant PLC injury. Injuries to the PLC, often associated with cruciate ligament tears, should be promptly identified because failure to recognize them may result in persistent instability, secondary osteoarthritis, and cruciate graft failure.

Biomechanical study of 3D-printed titanium alloy pad for repairing glenoid bone defect.

Background: The purpose of this study was to investigate the effect of 3D-printed technology to repair glenoid bone defect on shoulder joint stability. Methods: The shoulder joints of 25 male cadavers were tested. The 3D-printed glenoid pad was designed and fabricated. The specimens were divided into 5 groups. Group A: no bone defect and the structure of the glenoid labrum and joint capsule was intact; Group B: Anterior inferior bone defect of the shoulder glenoid; Group C: a pad with a width of 2 mm was installed; Group D: a pad with a width of 4 mm was installed; Group E: a pad with a width of 6 mm was installed. This study measured the distance the humeral head moved forward at the time of glenohumeral dislocation and the maximum load required to dislocate the shoulder. Results: The shoulder joint stability and humerus displacement was significantly lower in groups B and C compared with group A (p < .05). Compared with group A, the stability of the shoulder joint of group D was significantly improved (p < .05). However, there was no significant difference in humerus displacement between groups D and A (p > .05). In addition, compared with group A, shoulder joint stability was significantly increased and humerus displacement was significantly decreased in group E (p < .05). Conclusion: The 3D-printed technology can be used to make the shoulder glenoid pad to perfectly restore the geometric shape of the shoulder glenoid articular surface. Moreover, the 3D-printed pad is 2 mm larger than the normal glenoid width to restore the initial stability of the shoulder joint.

[Internal derangements of the temporomandibular joint]. / Internal derangements van het kaakgewricht.

An internal derangement of the temporomandibular joint is described as a deviation in the position or shape of the joint tissues. Such a change is only functionally manifest if it interferes with smooth movements of the jaw joint. There are a number of internal derangements associated with jaw movements in which popping jaw joint sounds can occur. Examples are an anteriorly or posteriorly displaced disc and hypermobility of the condylar head. Although most internal derangements are harmless and only cause minor discomfort to patients, disc displacements can in some cases develop into a clinical problem, for example when there is a limitation of mouth opening (so-called closed lock) or an inability to close the mouth (so-called open lock). Most patients with these conditions do not require any or only conservative treatment.

A modified "outside-in" Broström-Gould procedure yielding favorable outcomes for the management of chronic lateral ankle instability-a retrospective study with mid-term follow-up.

Purpose: There are various surgical interventions available for the management of Chronic lateral ankle instability (CLAI). The Broström-Gould procedure has gained widespread recognition among foot and ankle specialists for its favorable surgical outcomes. However, with advancements in anatomical understanding and medical technology, further enhancements to the effectiveness of the Gould procedure are warranted. This study introduces a all-inside modified "outside-in" Broström -Gould procedure as an alternative approach for addressing lateral ankle instability. Methods: From August 2020 to October 2022, 40 patients with lateral ankle instability who underwent arthroscopic repair of the modified "outside-in" Broström-Gould procedure were retrospectively analyzed. All patients received standard non-surgical treatment before surgery for more than 6 months without symptom relief. Visual Analogue Scale (VAS) and American Orthopaedic Foot and Ankle Society (AOFAS) and Karlsson-Peterson score were used to evaluate the postoperative effect. Results: All patients were followed up for (14.62 ± 2.04) months. One year after operation, all patients could walk normally, ankle instability sensation disappeared, varus stress test and anterior drawer test were negative. The VAS , AOFAS and Karlsson-Peterson scores of all patients were significantly better compared with those before operation, and the difference between before and after operation was statistically significant. Conclusions: The modified "outside-in" Broström-Gould procedure can effectively treat CLAI, which can obtain satisfactory results. The procedure is straightforward, the impact is minimal, and the aesthetics are pleasing.

Syndesmotic Injuries.

Syndesmotic ankle injuries, though rare in isolation, are complex destabilizing injuries often accompanied by fractures. Misdiagnoses, particularly overlooking posterior malleolus fractures, are common in ankle sprains. Thorough physical examinations, emphasizing high fibular pain and anterior tibia palpation, aid in accurate diagnosis. Grading helps assess injury severity and guiding treatment. Initial imaging involves three ankle views, with stress radiographs enhancing accuracy. If conservative care fails, MRI reveals ligament and tendon damage. Physical therapy may suffice for functional instability; surgical intervention addresses mechanical instability. Syndesmotic fixation debates center on cortices, screw size, reduction methods, and optimal positioning.

Accuracy to identify young adults with chronic ankle instability using a virtual reality - Balance error scoring system: A cross-sectional study.

INTRODUCTION: The Balance Error Scoring System (BESS) assesses the ability to control postural stability by performing 3 different stances on two-type surfaces during closed eyes. Virtual reality technology combined with the BESS test (VR-BESS) may be used to disrupt visual inputs instead of closing the eyes, which may improve the sensitivity of diagnosing patients with chronic ankle instability (CAI). OBJECTIVE: This study aimed to evaluate the accuracy to identify individuals with CAI of the VR-BESS test comparing with the original BESS test. METHODS: The BESS and VR-BESS tests were administered to 68 young adults (34 participants with CAI and 34 without CAI). Frontal and lateral video views were used to measure the participant's performance errors. The area under the curve (AUC) of the receiver operating characteristic (ROC) curve was computed to determine the diagnostic test's overall accuracy. RESULTS: The total score of the BESS test and the VR-BESS test were statistically significant in comparison to the AUC of no discrimination at 0.5, with AUC values of 0.63 and 0.64, respectively. The cut-off scores for the BESS and VR-BESS tests were 12 and 15, respectively. There was no significant difference between the ROC curves of the BESS and the VR-BESS test for identifying individuals with CAI. CONCLUSION: The BESS and VR-BESS tests may be utilized interchangeably to identify individuals with CAI.

[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Dinamicheskaya funktsional'naya otsenka patologicheskikh izvitostei vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom. Klinicheskii sluchai.

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.

[Functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Vazhnost' dinamicheskoi funktsional'noi otsenki patologicheskoi izvitosti vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom.

The review is devoted to diagnosis and treatment of internal carotid artery tortuosity. The authors consider modern classification, epidemiology and diagnostic options using neuroimaging or ultrasound-assisted functional stress tests depending on medical history and complaints. In addition to standard Doppler ultrasound, rotational and orthostatic tests are advisable due to possible changes of local shape and hemodynamic parameters following body position changes, especially in patients with concomitant atherosclerotic stenosis. Thus, a personalized approach is especially important for treatment and diagnostics of internal carotid artery tortuosity.

Effect of Lateral Extra-Articular Procedures Combined With ACL Reconstruction on the Rate of Graft Rupture in Patients Aged Older Than 30 Years: A Matched-Pair Analysis of 1102 Patients From the SANTI Study Group.

BACKGROUND: Clinical studies have demonstrated significant advantages of combined anterior cruciate ligament (ACL) reconstruction (ACLR) and lateral extra-articular procedures (LEAPs) over isolated ACLR in terms of reducing graft rupture and reoperation rates. However, most of the published studies have included young patients, and no studies have focused on patients aged >30 years. PURPOSE/HYPOTHESIS: The purpose of this study was to compare the outcomes of isolated ACLR versus ACLR + LEAP at midterm follow-up in patients aged >30 years. The hypothesis was that patients who underwent combined procedures would experience significantly lower rates of graft rupture. STUDY DESIGN: Cohort study; Level of evidence, 3. METHODS: Patients >30 years of age who underwent primary ACLR + LEAP between January 2003 and December 2020 were propensity matched at a 1:1 ratio to patients who underwent isolated ACLR. A retrospective analysis of prospectively collected data was performed to determine graft rupture rates, knee stability, reoperation rates, and complications. Graft survivorship was assessed using the Kaplan-Meier method. Risk factors associated with the occurrence of graft failure were analyzed using a Cox proportional hazards model. RESULTS: Two groups of 551 patients each were included in the study, and the mean follow-up was 97.19 ± 47.23 months. The overall mean age was 37.01 ± 6.24 years. The LEAP group consisted of 503 (91.3%) patients who had anterolateral ligament reconstruction and 48 (8.7%) patients who had a Lemaire procedure. Overall, 19 (1.7%) patients had graft failure: 15 (2.7%) in the no-LEAP group and 4 (0.7%) in the LEAP group (P = .0116). The risk of graft failure was significantly associated with the absence of LEAP (31 vs 12; hazard ratio, 3.309; 95% CI, 1.088-10.065; P = .0350) and age between 30 and 35 years (hazard ratio, 4.533; 95% CI, 1.484-13.841; P = .0080). A higher rate of reoperation for secondary meniscectomy was found in the no-LEAP group (5.6% vs 2.2%; P = .0031). CONCLUSION: Patients aged >30 years who underwent combined ACLR and LEAP experienced a >3-fold lower risk of ACL graft failure compared with those who underwent isolated ACLR. Furthermore, the group without LEAP experienced a higher rate of secondary meniscectomy.

Correlation between benign joint hypermobility syndrome and headache in children and adolescents.

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.