High degree of consensus on diagnosis and management of rotator cuff tears: a Delphi approach.

PURPOSE: To develop a consensus on diagnosis and treatment of rotator cuff tears. The study focused on selected areas: imaging, prognostic factors, treatment options, surgical techniques. METHODS: Panel was composed of all members of the shoulder committee of the Italian Society of Arthroscopy, Knee, Upper arm, Sport, Cartilage and Orthopedic techniques (SIAGASCOT). Four rounds were performed. The first round consisted of gathering questions which were then divided into seven blocks referring to: imaging, patient-related prognostic factors, treatment options, surgical steps, reparative techniques, surgical predictive factors, advanced techniques. Subsequent rounds consisted of condensation by means of online questionnaire and debates. Consensus was defined as two-thirds agreement on one answer. Descriptive statistic was used to summarize the data. RESULTS: Forty-one shoulder experts were involved. Fifty-six statements were finally formulated. A consensus could be achieved on 51. Experts agreed that preoperative magnetic resonance imaging is strongly recommended because it allows a careful evaluation of tear characteristics, while the role of US remains debatable. Controversial patient-related factors such as age, comorbidities, smoking and stiffness do not contraindicate the repair. From a surgical standpoint, the experts highlighted that pseudo-paralysis is not a contraindication to rotator cuff repair. Consensus on specific surgical steps was also achieved: capsular release should be performed only in stiff shoulders; footprint preparation is mandatory, while debridement of tendon edges is not essential. If necessary, a rotator interval release could be performed without interrupting the continuity between subscapularis and supraspinatus tendon; posterior delamination should be always included in the repair. Advanced techniques such as tendon transfers should be selected based on the main clinical deficit, while the superior capsule reconstruction plays a role only in combination with a functional repair. CONCLUSION: A consensus was achieved almost on every topic of controversy explored. Particularly, MRI was deemed necessary to determine tear characteristics, while radiographs remain important for differential diagnosis; age should not be considered a contraindication to surgery; pseudo-paralysis does not represent a contraindication to arthroscopic rotator cuff repair, but superior capsule reconstruction plays a role only in combination with a functional repair. Latissimus dorsi transfer plays a role when the main functional deficit is in elevation, while the lower trapezius transfer plays a role when the main functional deficit is the external-rotation. LEVEL OF EVIDENCE: V.

Imaging of Anatomical Variants of the Long Head Biceps Tendon.

Anatomical variants of the long head of biceps (LHB) tendon are widely discussed in the literature. As one of the few intra-articular tendons, magnetic resonance arthroscopy can quickly evaluate the proximal part of LHB morphology. It provides good assessment of both intra-articular and extra-articular portions of the tendons. In-depth knowledge about imaging of the anatomical LHB variants discussed in this article is useful preoperatively for orthopaedists and also helps avoid potential diagnostic misinterpretations.

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

BACKGROUND: Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases. METHODS: While most variants are novel or extremely rare, we report on 11 recurring variants in seven genes, including three known 'founder variants' in the Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies in ~550 European patients with JS and compared them with controls (>15 000 Italian plus gnomAD), and with an independent cohort of ~600 JS probands from the USA. RESULTS: All variants were markedly enriched in the European JS cohort compared with controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazim founder variant (TMEM216 c.218G>T) was significantly enriched in American compared with European patients with JS, while MKS1 c.1476T>G was about 10 times more frequent among European JS. Frequencies of other variants were comparable in the two cohorts. Genotyping of several markers identified four novel European founder haplotypes.Two recurrent variants (MKS1 c.1476T>G and KIAA0586 c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. However, while fibroblasts from a MKS1 c.1476T>G healthy homozygote showed impaired ability to form primary cilia and mildly reduced ciliary length, ciliary parameters were normal in cells from a KIAA0586 c.428delG healthy homozygote. CONCLUSION: This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants.

Glenoid bone loss in anterior shoulder dislocation: a multicentric study to assess the most reliable imaging method.

PURPOSE: The aim of this multicentric study was to assess which imaging method has the best inter-reader agreement for glenoid bone loss quantification in anterior shoulder instability. A further aim was to calculate the inter-method agreement comparing bilateral CT with unilateral CT and MR arthrography (MRA) with CT measurements. Finally, calculations were carried out to find the least time-consuming method. METHOD: A retrospective evaluation was performed by 9 readers (or pairs of readers) on a consecutive series of 110 patients with MRA and bilateral shoulder CT. Each reader was asked to calculate the glenoid bone loss of all patients using the following methods: best fit circle area on both MRA and CT images, maximum transverse glenoid width on MRA and CT, CT PICO technique, ratio of the maximum glenoid width to height on MRA and CT, and length of flattening of the anterior glenoid curvature on MRA and CT. Using Pearson's correlation coefficient (PCC), the following agreement values were calculated: the inter-reader for each method, the inter-method for MRA with CT quantifications and the inter-method for CT best-fit circle area and CT PICO. Statistical analysis was carried out to compare the time employed by the readers for each method. RESULTS: Inter-reader agreement PCC mean values were the following: 0.70 for MRA and 0.77 for CT using best fit circle diameter, 0.68 for MRA and 0.72 for CT using best fit circle area, 0.75 for CT PICO, 0.64 for MRA and 0.62 for CT anterior straight line and 0.49 for MRA and 0.43 for CT using length-to-width ratio. CT-MRA inter-modality PCC mean values were 0.9 for best fit circle diameter, 0.9 for best fit circle area, 0.62 for anterior straight line and 0.94 for length-to-width methods. PCC mean value comparing unilateral CT with PICO CT methods was 0.8. MRA best fit circle area method was significantly faster than the same method performed on CT (p = 0.031), while no significant difference was seen between CT and MRA for remaining measurements. CONCLUSIONS: CT PICO is the most reliable imaging method, but both CT and MRA can be reliably used to assess glenoid bone loss. Best fit circle area CT and MRA methods are valuable alternative measurement techniques.

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.

Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a rare genetic condition caused by mutations in the ATRX gene characterized by distinctive dysmorphic features, alpha thalassemia, mild-to-profound intellectual disability, and epilepsy, reported in nearly 30% of the patients. To date, different types of seizures are reported in patients with ATRX syndrome including either clonic, tonic, myoclonic seizures or myoclonic absences. However, an accurate analysis of electroencephalographic features is lacking in literature. We report on the epileptic and electroencephalographic phenotype of seven unpublished patients with ATRX syndrome, highlighting the presence of a peculiar EEG pattern characterized by diffuse background slowing with superimposed low voltage fast activity. Likewise, we also review the available literature on this topic.

Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.

GRIN2A encodes for the 2A subunit of N-methyl-D-aspartate receptors. Pathogenic variants in GRIN2A have been associated with a wide spectrum of neurodevelopmental disorders ranging from speech disorders and/or self-limiting epilepsy (childhood epilepsy with centrotemporal spikes) to severe and disabling phenotypes (atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-wave during sleep, Landau-Kleffner syndrome and infantile-onset epileptic encephalopathy). Here we describe a family with two affected sisters with atypical childhood epilepsy with centrotemporal spikes and their mildly affected mother carrying a novel N-terminal null variant in GRIN2A gene. These familial cases corroborate previous studies showing that loss-of-function GRIN2A variants are associated with milder phenotypes, possibly due to haploinsufficiency.

Magnetic Instabilities in the Quasi-One-Dimensional K2Cr3As3 Material with Twisted Triangular Tubes.

The magnetic response of a frustrated K2Cr3As3 sample having triangular arrays of twisted tubes has been studied by means of dc magnetization measurements as a function of the magnetic field (H) at different temperatures ranging from 5 K up to 300 K. Looking at the magnetic hysteresis loops m(H), a diamagnetic behavior of the sample was inferred at temperatures higher than 60 K, whereas at lower temperatures the sample showed a hysteresis loop compatible with the presence of ferrimagnetism. Moreover, spike-like magnetization jumps, both positive and negative, were observed in a narrow range of the magnetic field around 800 Oe, regardless of the temperature considered and they were compared with the theoretical predictions on frustrated systems. The field position of the magnetization jumps was studied at different temperatures, and their distribution can be described by a Lorentzian curve. The analogies between the expected features and the experimental observations suggest that the jumps could be attributed to the magnetic frustration arising from the twisted triangular tubes present in the crystal lattice of this compound.

Arthroscopic Hill-Sachs Filling Technique Using an Absorbable Interference Screw.

We present an arthroscopic technique used to treat traumatic shoulder instability in the patient with a Hill-Sachs lesion, especially an off-track lesion. The incidence of this bony defect is approximately 40% to 90% of all anterior shoulder instability cases-and up to 100% in patients with recurrent anterior instability. Incorrect management of this humeral bone defect can lead to treatment failure, and it is essential to define characteristics such as the lesion's location, depth, width, and orientation. Many arthroscopic and open procedures have been described for the surgical management of the Hill-Sachs lesion. Using arthroscopy for the surgical treatment of shoulder instability offers numerous advantages. We describe an arthroscopic technique that consists of filling the Hill-Sachs lesion with absorbable interference screws made out of an advanced biocomposite material. After repair of the Hill-Sachs lesion, the Bankart lesion is repaired. As these screws are resorbed by bone tissue over several months, the bony anatomy is restored.

Problems, complications, and reinterventions in 4893 onlay humeral lateralized reverse shoulder arthroplasties, a systematic review: part II-problems and reinterventions.

BACKGROUND: Several modifications to the original Grammont reverse shoulder arthroplasty (RSA) design have been proposed to prevent distinctive issues, such as both glenoid and humeral lateralization. The aim of this systematic review was to determine rates of problems, complications, reoperations, and revisions after onlay lateralized humeral stem RSA, hypothesizing that these are design related. METHODS: This systematic review was performed in accordance with the PRISMA statement guidelines. A literature search was conducted (1 January 2000 to 14 April 2020) using PubMed, Cochrane Reviews, Scopus, and Google Scholar, employing several combinations of keywords: "reverse shoulder arthroplasty," "reverse shoulder prosthesis," "inverse shoulder arthroplasty," "inverse shoulder prosthesis," "problems," "complications," "results," "outcomes," "reoperation," and "revision." RESULTS: Thirty-one studies with 4893 RSA met inclusion criteria. The 892 postoperative problems and 296 postoperative complications represented overall problem and complication rates of 22.7% and 7.5%, respectively. Forty-one reoperations and 63 revisions resulted, with overall reoperation and revision rates of 1.7% and 2.6%, respectively. CONCLUSIONS: Problem, complication, and reintervention rates proved acceptable when implanting a high humeral lateralization stem RSA. The most frequent problem was scapular notching (12.6%), and the most common postoperative complication was scapular stress fracture (1.8%). An overall humeral complication rate of 1.9% was identified, whereas no humeral fractures or stem loosening were reported with short stems. Infections (1.3%) were the most common reason for component revision, followed by instability (0.8%). LEVEL OF EVIDENCE: Systematic review IV.

Indirect Structural Muscle Injuries of Lower Limb: Rehabilitation and Therapeutic Exercise.

Muscle injuries are the most common trauma in team and individual sports. The muscles most frequently affected are those of the lower limb, and in particular hamstrings, adductors, rectus femoris and calf muscles. Although several scientific studies have tried to propose different rehabilitation protocols, still too often the real rehabilitation process is not based on scientific knowledge, especially in non-elite athletes. Moreover, the growing use of physical and instrumental therapies has made it increasingly difficult to understand what can be truly effective. Therefore, the aim of the present paper is to review proposed therapeutic algorithms for muscle injuries, proposing a concise and practical summary. Following a three-phase rehabilitation protocol, this review aims to describe the conservative treatment of indirect structural muscle injuries, which are the more routinely found and more challenging type. For each phase, until return to training and return to sport are completed, the functional goal, the most appropriate practitioner, and the best possible treatment according to current evidence are expressed. Finally, the last section is focused on the specific exercise rehabilitation for the four main muscle groups with a structured explanatory timetable.

Problems, complications, and reinterventions in 4893 onlay humeral lateralized reverse shoulder arthroplasties: a systematic review (part I-complications).

BACKGROUND: Several modifications to the original Grammont reverse shoulder arthroplasty (RSA) design have been proposed to prevent distinctive issues, such as both glenoid and humeral lateralization. The aim of this systematic review was to determine rates of problems, complications, reoperations, and revisions after onlay lateralized humeral stem RSA, hypothesizing that these are design related. METHODS: This systematic review was performed in accordance with the PRISMA statement guidelines. A literature search was conducted (01.01.2000-14.04.2020) using PubMed, Cochrane Reviews, Scopus, and Google Scholar employing several combinations of keywords: "reverse shoulder arthroplasty," "reverse shoulder prosthesis," "inverse shoulder arthroplasty," "inverse shoulder prosthesis," "problems," "complications," "results," "outcomes," "reoperation," "revision." RESULTS: Thirty-one studies with 4893 RSA met inclusion criteria. The 892 postoperative problems and 296 postoperative complications represented overall problem and complication rates of 22.7% and 7.5%, respectively. Forty-one reoperations and 63 revisions resulted, with an overall reoperation rate of 1.7% and overall revision rate of 2.6%. CONCLUSIONS: Problem, complication, and reintervention rates proved acceptable when implanting a high humeral lateralization stem in RSA. The most frequent problem was scapular notching (12.6%), and the most common postoperative complication was scapular stress fracture (1.8%). An overall humeral complication rate of 1.9% was identified, whereas short stems reported no humeral fractures or stem loosening. Infections (1.3%) proved to be the most common reason for component revision, and instability had a complication rate of 0.8%. LEVEL OF EVIDENCE: Systematic review IV.

Clinical Outcomes and Joint Stability after Lateralized Reverse Total Shoulder Arthroplasty with and without Subscapularis Repair: A Meta-Analysis.

INTRODUCTION: Subscapularis tendon repair in reverse total shoulder arthroplasty represents a potentially modifiable risk factor for dislocation, and its role continues to be debated. The purpose of the present meta-analysis was to compare the outcomes of the primary lateralized RSAs with and without subscapularis repair in terms of range of motion, clinical outcomes, dislocations, and complications rate. MATERIALS AND METHODS: A systematic literature search in MEDLINE (Pubmed), Embase, and the Cochrane Central Register of Controlled Trials database was carried up to December 2020. A data extraction form was developed to collect select data from the included studies. The methodological quality was assessed using a Methodological Index for Nonrandomized Studies (MINORS) score. Statistical analysis was performed with Review Manager (Version 5.4, The Cochrane Collaboration). RESULTS: A total of four comparative studies involving 978 patients were included. In the pooled analysis, the reinsertion of the subscapularis yielded better functional outcomes in terms of the constant (P < 0.00001) and ASES (P = 0.002) scores. The forward elevation, external rotation at 0°, internal rotation, and dislocation rates were comparable between the two groups (P = n.s.), while statistically increased abduction was observed in those patients who did not have their subscapularis repaired (P < 0.00001). CONCLUSION: The results of the present findings suggest that it seems reasonable to reinsert the subscapularis whenever it is present, in good tissue conditions, and with no evidence of fatty degeneration of its muscle belly. LEVEL OF EVIDENCE: Level III meta-analysis.

Long head biceps tendon instability: diagnostic performance of known and new MRI diagnostic signs.

OBJECTIVE: The aim of this work was to evaluate the inter-observer agreement and diagnostic performance values of 7 MRI signs (3 known and 4 new) of long head biceps tendon instability. MATERIALS AND METHODS: MRI of 86 patients were retrospectively evaluated. Inter-observer agreement and diagnostic performance of each diagnostic sign and of all combined signs (with the exception of detour sign) were tested for identification of biceps tendon instability, with arthroscopy as the reference standard. RESULTS: Agreement between expert operators was moderate to good. Sensitivity, specificity, and sign accuracy showed a variation respectively of the following: humeral chondral print 72-80%, 62-68%, and 70-76%; subchondral bone edema 24-31%, 84-97%, and 50%; biceps tendon angle 60-71%, 97-100%, and 74-81%, biceps tendon-groove distance 31-47%, 90-100%, and 56-64%; long head biceps subluxation/dislocation on axial plane 49-53%, 97-100%, and 66-70%; displacement sign 74-80%, 74-100%, and 74-87%; detour sign 51-64%, 58-81%, and 62-64%; and all signs 98-100%, 32-61%, and 75-86%. CONCLUSION: These diagnostic signs, both known and new, individually and/or in combination, provide a valid tool in the MRI diagnosis of long head biceps tendon instability.

Comma sign of subscapularis tear: diagnostic performance and magnetic resonance imaging appearance.

BACKGROUND: The main aim of this study was to evaluate the performance of magnetic resonance imaging (MRI) and interobserver agreement in the identification of the comma sign. The second objective was to look for a correlation between the comma sign and the detachment of the superficial fascia of the subscapularis. MATERIALS AND METHODS: Two radiologists, blinded to the arthroscopic findings, retrospectively assessed the magnetic resonance images of 110 shoulders and were asked to assess the presence of the comma sign and the intact subscapularis fascia. The inter-reader agreement and the MRI performance values for detection of the comma sign were calculated. In addition, the association between the intact superficial subscapularis fascia and the comma sign was evaluated. RESULTS: The agreement between the 2 radiologists was perfect. The following values were obtained: sensitivity, 90.9%; specificity, 98.8%; positive predictive value, 95.2%; negative predictive value, 97.7%; and accuracy, 97.2%. No association between the comma sign and subscapularis fascia lesions was found. CONCLUSION: MRI appears to be a reliable method for preoperative assessment of the comma sign. The comma sign appears not to be formed by the detached subscapularis fascia.

Arthroscopic reduction and subscapularis remplissage (ARR) of chronic posterior locked shoulder dislocation leads to optimized outcomes and low rate of complications.

PURPOSE: Unrecognized posterior shoulder dislocation with a concomitant humeral head fracture affects joint function and no consensus exists regarding treatment. The present study analyses clinical and radiographic outcomes of a novel arthroscopic technique for reducing chronic locked posterior shoulder dislocation associated with subscapularis remplissage. METHODS: The study comprises a retrospective analysis of consecutive chronic posterior locked shoulders (CPLS) with minimum 2-years follow-up of patients who had undergone McLaughlin technique arthroscopic modification for the treatment of CPLS with a reverse Hill-Sachs lesion. Active range of motion (ROM), Western Ontario (WOSI) and Constant Score (CS), were evaluated pre- and postoperatively. Plain radiographs and magnetic resonance imaging (MRI) scans were collected pre- and post-operatively, recording bone defect, osteoarthritis, cuff integrity/fatty infiltration, and the grade of filling of the reverse Hill-Sachs. RESULTS: Twelve male patients with a mean follow-up of 37.3 months ± 10.5 (range, 24-58) were included. Mean WOSI and CS scores improved from 41 to 92 and 28 to 94 points, respectively. ROM measurements all had significantly increased at final follow-up, with no significant differences in arm rotation. No defects were left unfilled at final MRI examination. CONCLUSION: The results of this uncontrolled study with a limited number of patients confirm that arthroscopic reduction and subscapularis remplissage is a highly effective and satisfactory treatment method resulting in no shoulder rotation deficits. LEVEL OF EVIDENCE: Level IV.

An Evolution of Shoulder Periprosthetic Infections Management: MicroDTTect, Bioactive Glass and Tantalum Cones Employment.

Periprosthetic joint infections of the shoulder (PJIS) are the major cause for revision within the first two post-operative years, and are challenging both to diagnose and treat. Success depends on early identification of microorganisms, appropriate surgical procedures and efficient antibiotic administration. The peculiar microbiology of the shoulder may render the criteria for hip/knee PJI management inappropriate. In addition, later cases with clinically subtle signs often present diagnostic challenges. In recent years, specific issues of PJIS have been managed through the use of new instruments, such as MicroDTTect in pathogen detection and Bioactive Glass and tantalum cones in humeral bone loss. In the literature to date, no reports have been found that discuss the application in shoulder revisions and infections. The early identification of the microorganisms that cause infection may help improve both treatment strategies and the efficacy of therapy. MicroDTTect proved to be more efficient than swab collection for bacterial identification in orthopedic surgery, thus reducing analysis costs. The increasing number of shoulder arthroplasties is associated with an increase in the number of revisions. In cases of massive metaphyseal humeral bone loss, several techniques have been described; no reports have been reported regarding tantalum in humeral bone loss management. In some cases the tantalum cones required adaptation for femoral diaphysis in the augmentation of the humerus metaphysis and bone loss management improvement. Obtaining stable osseointegration of prosthetic implants is one of the greatest issues in orthopedic surgery, and even more crucial in revisions. Bioactive glasses demonstrated good regenerative and osseointegration properties, and an excellent candidate as a bone graft, scaffold and antibiotics deliverer. The Bioactive glasses were used to increase prosthesis-bone interface stability and fill bone defects in PJIS revision surgeries, contributing to the prevention of re-infection. Longer-term follow-up will be necessary to determine if construction durability is improved in the long term.

Onlay Uncemented Lateralized Reverse Shoulder Arthroplasty for Fracture Sequelae Type 1 with Valgus/Varus Malunion: Deltoid Lengthening and Outcomes.

The successful treatment of proximal humeral fractures remains challenging for shoulder surgeons, and failure rates are high, regardless of initial treatment. This study aimed to analyze the clinical and radiographic midterm results of onlay lateralized cementless stem reverse shoulder arthroplasty (RSA) in patients with valgus/varus malunion proximal humerus fracture sequelae without metaphyseal osteotomy. We retrospectively studied 35 cases with the diagnosis of fracture sequelae of the proximal part of the humerus with valgus/varus malunion. The mean duration of follow-up was 4.6 years (range, 2 to 7 years), and the mean time between fracture and arthroplasty was 6 years (1 to 32 years). Seventeen patients (48.6%) had initially been treated nonoperatively. The Constant score (CS), active range of motion, and radiographs of the affected shoulders, as well as the acromion to greater tuberosity (AGT) distance and deltoid length (DL), were analyzed before surgery and at their latest follow-up. A total of thirty-three patients (94.3%) rated their outcome as very good or good. Mean CS, forward flexion, and external rotation improved significantly (p < 0.0001), as did internal rotation and pain (p < 0.05). AGT distance significantly increased postoperatively from 14.7 to 43.3 mm, as did DL from 143 to 170 mm (p < 0.05). There was no correlation between the outcomes and valgus/varus deformity, previous surgeries, or AGT distance/DL. A total of four complications occurred (11.4%): two dislocations were detected (5.7%) and successfully revised with a longer cemented stem. Onlay lateralized uncemented stem RSA improves clinical outcomes and decreases complications when treating valgus/varus malunion fracture sequelae, avoiding intraoperative technical challenges, such as tuberosities osteotomy conscious of bone loss and proper deltoid tensioning.