A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5' regulatory element of SOX9. To date, six CS families were resolved at the molecular level. Subsequent studies explored the evolutionary and pathological complexities of the SOX9-KCNJ2/Sox9-Kcnj2 locus, and suggested a key role for the formation of novel topologically associating domain (TAD) by inter-TAD duplications in causing CS. Here, we report a unique case of CS associated with a de novo 1;17 translocation affecting the KCNJ2 locus. On chromosome 17, the breakpoint mapped between KCNJ16 and KCNJ2, and combined with a ~ 5 kb deletion in the 5' of KCNJ2. Based on available capture Hi-C data, the breakpoint on chromosome 17 separated KCNJ2 from a putative enhancer. Gene expression analysis demonstrated downregulation of KCNJ2 in both patient's blood cells and cultured skin fibroblasts. Our findings suggest that a complex rearrangement falling in the 5' of KCNJ2 may mimic the developmental consequences of in tandem duplications affecting the SOX9-KCNJ2/Sox9-Kcnj2 locus. This finding adds weight to the notion of an intricate role of gene regulatory regions and, presumably, the related three-dimensional chromatin structure in normal and abnormal human morphology.

The transcriptome profile of human trisomy 21 blood cells.

BACKGROUND: Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID). It is broadly agreed that the presence of extra genetic material in T21 gives origin to an altered expression of genes located on Hsa21 leading to DS phenotype. The aim of this study was to analyse T21 and normal control blood cell gene expression profiles obtained by total RNA sequencing (RNA-Seq). RESULTS: The results were elaborated by the TRAM (Transcriptome Mapper) software which generated a differential transcriptome map between human T21 and normal control blood cells providing the gene expression ratios for 17,867 loci. The obtained gene expression profiles were validated through real-time reverse transcription polymerase chain reaction (RT-PCR) assay and compared with previously published data. A post-analysis through transcriptome mapping allowed the identification of the segmental (regional) variation of the expression level across the whole genome (segment-based analysis of expression). Interestingly, the most over-expressed genes encode for interferon-induced proteins, two of them (MX1 and MX2 genes) mapping on Hsa21 (21q22.3). The altered expression of genes involved in mitochondrial translation and energy production also emerged, followed by the altered expression of genes encoding for the folate cycle enzyme, GART, and the folate transporter, SLC19A1. CONCLUSIONS: The alteration of these pathways might be linked and involved in the manifestation of ID in DS.

A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.

PURPOSE: The aim of this study was to increase knowledge of genes associated with anorexia nervosa (AN) and their diagnostic offer, using a next generation sequencing (NGS) panel for the identification of genetic variants. The rationale underlying this test is that we first analyze the genes associated with syndromic forms of AN, then genes that were found to carry rare variants in AN patients who had undergone segregation analysis, and finally candidate genes intervening in the same molecular pathways or identified by GWAS or in mouse models. METHODS: We developed an NGS gene panel and used it to screen 68 Italian AN patients (63 females, 5 males). The panel included 162 genes. Family segregation study was conducted on available relatives of probands who reported significant genetic variants. RESULTS: In our analysis, we found potentially deleterious variants in 2 genes (PDE11A and SLC25A13) associated with syndromic forms of anorexia and predicted deleterious variants in the following 12 genes: CD36, CACNA1C, DRD4, EPHX2, ESR1, GRIN2A, GRIN3B, LRP2, NPY4R, PTGS2, PTPN22 and SGPP2. Furthermore, by Sanger sequencing of the promoter region of NNAT, we confirmed the involvement of this gene in the pathogenesis of AN. Family segregation studies further strengthened the possible causative role of CACNA1C, DRD4, GRIN2A, PTGS2, SGPP2, SLC25A13 and NNAT genes in AN etiology. CONCLUSION: The major finding of our study is the confirmation of the involvement of the NNAT gene in the pathogenesis of AN; furthermore, this study suggests that NGS-based testing can play an important role in the diagnostic evaluation of AN, excluding syndromic forms and increasing knowledge of the genetic etiology of AN. LEVEL OF EVIDENCE: Level I, experimental study.

Elastosonographic features of the metacarpophalangeal joint capsule in horses.

BACKGROUND: Capsulitis leads to the release of inflammatory mediators in the joint, causing capsular fibrosis and osteoarthritis (OA). Strain elastosonography (SE) measures the elasticity of tissue by evaluating its strain in operator-dependent deformation. The aims of the study were to assess the feasibility, repeatability, and reproducibility of SE for imaging the distal attachment of the joint capsule (DJC) of metacarpophalangeal joints in sound horses (Group S) and in horses with metacarpophalangeal OA (Group P) and to evaluate differences in the elastosonographic patterns of these horses. After a whole lameness examination, fore fetlock DJCs were assigned to Group S and Group P and were thereafter examined by two operators using SE. Qualitative (i.e., colour grading score) and semi-quantitative (i.e., elasticity index (EI) and strain ratio (SR)) methods were used to evaluate the elastograms. The inter-rater reliability (IRR), intraclass correlation coefficient (intra-CC) and interclass correlation coefficient (inter-CC) were used to compare colour grading scores and the repeatability and reproducibility of EI and SR outcomes. The same parameters were compared between groups. P < 0.05 indicated a significant finding. RESULTS: Forty-one horses were included: 11 were in Group S and 30 were in Group P (16 with bilateral OA, 8 with left OA and 6 with right OA). IRR outcomes ranged from good to excellent. For transverse and longitudinal ultrasound scans, the colour grading score of Group S was significantly higher than the metacarpophalangeal DJCs of Group P. Both Inter-CC and intra-CC were higher in Group S than in Group P, with values always > 0.8. Significative differences in EI and SR were detected between groups and between Group S and the affected limb of Group P; values were lower in Group S than in Group P. CONCLUSIONS: SE can be a useful technique for evaluating DJCs, with good repeatability and reproducibility. DJCs appear softer in sound horses.

Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.

BACKGROUND: To study the photopic negative response of the full-field photopic electroretinography (ERG) in Stargardt patients with pathogenic variants in the ABCA4 gene. METHODS: A retrospective analysis of 35 Stargardt patients with ABCA4 gene pathogenic variants, compared to normal age-matched controls. Patients were clinically followed at the Ophthalmology Department of Fondazione Policlinico Universitario A. Gemelli/Università Cattolica del Sacro Cuore, Rome, Italy. RESULTS: The photopic negative response of the full-field photopic ERG was compromised in most Stargardt patients. In the presence of a normal B-wave, the amplitude ratio between the photopic negative response and the B-wave displayed a 97% accuracy in detecting diseased eyes (receiver operating characteristic curves). CONCLUSIONS: In Stargardt patients with ABCA4 pathogenic mutations, the photopic negative response of the full-field photopic ERG is a very sensitive disease read-out. Its inclusion in standard ERG analysis would be a no-cost addition of practical consequence in the follow-up of Stargardt disease. The early impairment of the photopic negative response suggests that inner retinal function might be affected in Stargardt disease earlier than previously acknowledged.

Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.

Long QT syndrome (LQTS) has great genetic heterogeneity: more than 500 mutations have been described in several genes. Despite many advances, a genetic diagnosis still cannot be established in 25-30% of patients. The aim of the present study was to perform genetic evaluation in 9 Russian families with LQTS; here we report the results of 4 positive probands and their relatives (a total of 16 individuals). All subjects underwent clinical examination, 12-lead ECG, and Holter monitoring. Genetic analysis of the 14 genes mainly involved in LQTS was performed using a next-generation sequencing approach. We identified two new mutations (KCNQ1 gene) and 6 known mutations (AKAP9, ANK2, KCNE1 and KCNJ2 genes) in 4 out of 9 probands, some of which have already been described in association with LQTS. Segregation studies suggest a possible causative role for KCNQ1 p.(Leu342Pro), AKAP9 p.(Arg1609Lys), KCNE1 p.(Asp85Asn), and KCNJ2 p.(Arg82Gln) variations. Our study confirmed the high genetic heterogeneity of this disease and highlights the difficulties to reveal clear pathogenic genotypes also in large pedigrees. To the best of our knowledge, this is the first genetic study of LQTS patients from Russian families.

Comparison of Xylazine and Lidocaine Infusion versus Medetomidine Continuous Rate Infusion during General Anesthesia with Isoflurane in Horses Undergoing Emergency Laparotomy.

(1) The main goals of general anesthesia include pain management and a safe anesthetic protocol for smooth recovery. In this retrospective study, we compared two anesthetic protocols for general anesthesia with isoflurane during emergency laparotomy: sedation with xylazine and the intraoperative infusion of lidocaine (X group) versus medetomidine as a preoperative sedation and intraoperative infusion (M group). (2) The medical records of horses who underwent emergency laparotomies between 2016 and 2023 were reviewed. According to the anesthetic protocol, patients were allocated to the X or M groups. Data about the horse, signalment, history, and anesthetic variables were analyzed. (3) Group X had a significantly higher heart rate (HR), lower respiratory rate (RR) and mean and diastolic arterial pressure (MAP/DAP). A progressive increase in HR and RR was observed in both groups. Group X underwent a decrease in RR and an increase in DAP. In Group M, a decrease in MAP and DAP was observed. Group M exhibited a longer recovery time with similar recovery scores. Both protocols provided safe anesthesia for emergency laparotomy, with minor cardiovascular and respiratory depression. Minor respiratory depression was detected when xylazine was used, while recovery was longer with medetomidine.

The FKBP51s Splice Isoform Predicts Unfavorable Prognosis in Patients with Glioblastoma.

The primary treatment for glioblastoma (GBM) is removing the tumor mass as defined by MRI. However, MRI has limited diagnostic and predictive value. Tumor-associated macrophages (TAM) are abundant in GBM tumor microenvironment (TME) and are found in peripheral blood (PB). FKBP51 expression, with its canonical and spliced isoforms, is constitutive in immune cells and aberrant in GBM. Spliced FKBP51s supports M2 polarization. To find an immunologic signature that combined with MRI could advance in diagnosis, we immunophenotyped the macrophages of TME and PB from 37 patients with GBM using FKBP51s and classical M1-M2 markers. We also determined the tumor levels of FKBP51s, PD-L1, and HLA-DR. Tumors expressing FKBP51s showed an increase in various M2 phenotypes and regulatory T cells in PB, indicating immunosuppression. Tumors expressing FKBP51s also activated STAT3 and were associated with reduced survival. Correlative studies with MRI and tumor/macrophages cocultures allowed to interpret TAMs. Tumor volume correlated with M1 infiltration of TME. Cocultures with spheroids produced M1 polarization, suggesting that M1 macrophages may infiltrate alongside cancer stem cells. Cocultures of adherent cells developed the M2 phenotype CD163/FKBP51s expressing pSTAT6, a transcription factor enabling migration and invasion. In patients with recurrences, increased counts of CD163/FKBP51s monocyte/macrophages in PB correlated with callosal infiltration and were accompanied by a concomitant decrease in TME-infiltrating M1 macrophages. PB PD-L1/FKBP51s connoted necrotic tumors. In conclusion, FKBP51s identifies a GBM subtype that significantly impairs the immune system. Moreover, FKBP51s marks PB macrophages associated with MRI features of glioma malignancy that can aid in patient monitoring. SIGNIFICANCE: Our research suggests that by combining imaging with analysis of monocyte/macrophage subsets in patients with GBM, we can enhance our understanding of the disease and assist in its treatment. We discovered a similarity in the macrophage composition between the TME and PB, and through association with imaging, we could interpret macrophages. In addition, we identified a predictive biomarker that drew more attention to immune suppression of patients with GBM.

Increase of Epicardial Adipose Tissue (EAT) With Fat Infiltration of Right Ventricular Myocardium: Is it Always a High-Risk Stigmata or a Worrisome Feature?

Incidental epicardial adipose tissue (EAT) and subepicardial fat infiltration on CT scans are not uncommon and the differential diagnosis can be a challenge. Considering the vastness of the possible disorders, it is important to differentiate physiologic age-related condition from pathologic disease. We present a case of an asymptomatic 81-year-old woman in which according to ECG and CMR findings we considered as possible differential diagnoses arrhythmogenic cardiomyopathy (ACM) dominant-right variant, lipomatosis and physiological growth of epicardial fat. We focus on patient characteristics, location of the fat replacement, heart morphovolumetry, wall motion of the ventricles and absence of late gadolinium enhancement to diagnose pericardial fat hypertrophy and physiological fatty infiltration. The role of EAT is unclear and it could play a part in the development of atherosclerosis and atrial fibrillation. Therefore, the clinicians should not underestimate this condition even if it would be an incidental finding in asymptomatic patients.

Nerve MR in the Differential Diagnosis of Neuropathies: A Case Series from a Single Center.

In the present study, through a case series, we highlighted the role of magnetic resonance (MR) in the identification and diagnosis of peripheral neuropathies. MR neurography allows the evaluation of the course of nerves through 2D and 3D STIR sequences with an isotropic voxel, whereas the relationship between nerves, vessels, osteo-ligamentous and muscular structures can be appraised with T1 sequences. Currently, DTI and tractography are mainly used for experimental purposes. MR neurography can be useful in detecting subtle nerve alterations, even before the onset of symptoms. However, despite being sensitive, MR neurography is not specific in detecting nerve injury and requires careful interpretation. For this reason, MR information should always be supported by instrumental clinical tests.

Behavioral Disorders in Mares with Ovarian Disorders, Outcome after Laparoscopic Ovariectomy: A Case Series.

Owner complaints of estrus-related behavior in mares are a common cause of referral for laparoscopic ovariectomy. Granulosa cell tumors are a common neoplastic condition affecting the equine ovary, causing behavioral changes at rest and reduced performance. The reported success rate of ovariectomy in treating behavioral disorders is 64-86%. The aim of this study was to retrospectively evaluate the long-term follow-up of laparoscopic ovariectomy in mares in our case series, focusing on the owner's perspective of the behavior of the mares after surgery. In addition, the histopathological features of the removed ovaries were investigated. The clinical records of mares that underwent laparoscopic ovariectomy between 2015 and 2022 were retrospectively reviewed. Owners complaining of poor behavior were interviewed about the main behavioral problem leading to referral and its eventual resolution after surgery. Eleven mares were included. The most common complaints were increased sensitivity on both flanks (10/11, 91%) and general riding problems (9/11, 82%). In 5/11 cases (45%), both ovaries were removed by laparoscopic ovariectomy. Histopathologic findings consistent with GCT/GTCT were found in five out of six examined ovaries (five granulosa theca cell tumors, GTCT). According to owner interviews, the scores assigned to each behavior improved significantly after surgery, regardless of histological findings. Although many factors can influence the behavior of horses, granulosa cell tumors (GCTs) proved to be a common cause and, as reported by the owners, ovariectomy resulted in improvement or complete resolution of the abnormal behavior.

Small Bowel Imaging from Stepchild of Roentgenology to MR Enterography, Part II: The Reliable Disclosure of Crohn's Disease and Non-Inflammatory Small Bowel Disorder Plot through MRI Findings.

MRE has become a standard imaging test for evaluating patients with small bowel pathology, but a rigorous methodology for describing and interpreting the pathological findings is mandatory. Strictures, abscess, inflammatory activity, sinus tract, wall edema, fistula, mucosal lesions, strictures, and mesentery fat hypertrophy are all indicators of small bowel damage in inflammatory and non-inflammatory small bowel disease, and they are all commonly and accurately explained by MRE. MRE is a non-invasive modality that accurately assesses the intra-luminal, parietal, and extra-luminal small bowel. Differential MRE appearance allows us to distinguish between Crohn's disease and non-inflammatory small bowel disorder. The purpose of this paper is to present the MRE pathological findings of small bowel disorder.

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.

We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants (single nucleotide or small indels) according to the recommendations of the American College of Medical Genetics (ACMG) and the Association for Clinical Genomic Science (ACGS). The MAGI-ACMG classification algorithm uses information retrieved through the VarSome Application Programming Interface (API), integrates the AutoPVS1 tool in order to evaluate more precisely the attribution of the PVS1 criterion, and performs the customized assignment of specific criteria. In addition, we propose a sub-classification scheme for variants of uncertain significance (VUS) according to their proximity either towards the "likely pathogenic" or "likely benign" classes. We also conceived a pathogenicity potential criterion (P_POT) as a proxy for segregation criteria that might be added to a VUS after posterior testing, thus allowing it to upgrade its clinical significance in a diagnostic reporting setting. Finally, we have developed a user-friendly web application based on the MAGI-ACMG algorithm, available to geneticists for variant interpretation.

Small Bowel Imaging from Stepchild of Roentgenology to MR Enterography: Part I: Guidance in Performing and Observing Normal and Abnormal Imaging Findings.

MRE has become a standard imaging test for evaluating patients with small bowel pathology, but the indications, interpretation of imaging findings, methodology, and appropriate use must be standardized and widely known. Several signs of small bowel damage in inflammatory and non-inflammatory small bowel pathology include strictures, abscess, inflammatory activity, sinus tract, wall edema, fistula, mucosal lesions, and mesentery fat hypertrophy, all of which are widely and accurately explained by MRE. MRE is a non-invasive modality that accurately assesses the intra-luminal, parietal, and extra-luminal small bowel. The differential MRE appearance allows us to distinguish between different small bowel pathologies, such as neoplastic and non-neoplastic small bowel diseases. The purpose of this paper is to present the MRE technique, as well as the interpretation of imaging findings, through the approach of a rigorous stepwise methodology.

Non-invasive estimation of in vivo optical properties and hemodynamic parameters of domestic animals: a preliminary study on horses, dogs, and sheep.

Biosensors applied in veterinary medicine serve as a noninvasive method to determine the health status of animals and, indirectly, their level of welfare. Near infrared spectroscopy (NIRS) has been suggested as a technology with this application. This study presents preliminary in vivo time domain NIRS measurements of optical properties (absorption coefficient, reduced scattering coefficient, and differential pathlength factor) and hemodynamic parameters (concentration of oxygenated hemoglobin, deoxygenated hemoglobin, total hemoglobin, and tissue oxygen saturation) of tissue domestic animals, specifically of skeletal muscle (4 dogs and 6 horses) and head (4 dogs and 19 sheep). The results suggest that TD NIRS in vivo measurements on domestic animals are feasible, and reveal significant variations in the optical and hemodynamic properties among tissue types and species. In horses the different optical and hemodynamic properties of the measured muscles can be attributed to the presence of a thicker adipose layer over the muscle in the Longissimus Dorsi and in the Gluteus Superficialis as compared to the Triceps Brachii. In dogs the absorption coefficient is higher in the head (temporalis musculature) than in skeletal muscles. The smaller absorption coefficient for the head of the sheep as compared to the head of dogs may suggest that in sheep we are indeed reaching the brain cortex while in dog light penetration can be hindered by the strongly absorbing muscle covering the cranium.

Current Use of Equine Laparoscopy in Urogenital Disorders: A Scoping Review of the Literature from 2000 to 2021.

(1) Background: Laparoscopic surgery replaced traditional invasive techniques for the treatment of common urogenital disorders in equids. The aim of this review is to evaluate applications and the development of urogenital laparoscopy from 2001 to 2021. (2) Methods: A scoping review of literature was undertaken according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines for scoping reviews on three databases (NCBI-PubMed, Web of Science-Thompson Reuters, and SciVerse Scopus). (3) Results: A total of 452 papers were identified. After duplicate removal and title screening, 181 papers underwent abstract screening. Of these, 160 + 10 papers (cited by others) were assessed for eligibility according to the PICOs. A total of 132 papers were considered eligible. Most of the research was focused on ovaries and testes, followed by urinary bladder and general articles about laparoscopy in horses. We identified 43 original studies (33%, RCT, NoRCT, and experimental trials), 39 case series/retrospective studies (29%), 37 case reports (28%), and 13 reviews (10%, narrative or systematic). (4) Conclusions: Gonadal disorders were the most investigated. Hand-Assisted Laparoscopic Surgery (HALS) and laparoscopic-assisted surgery represent valuable options for more challenging conditions (uterine and urinary bladder disorders).

A functional seasonal thermal hot-spot classification: Focus on industrial sites.

This study was focused on the metropolitan area of Florence in Tuscany (Italy) with the aim to provide a functional spatial thermal anomaly indicator obtained throughout a thermal summer and winter hot-spot detection. The hot-spot analysis was performed by applying Getis-Ord Gi* spatial statistics to Land Surface Temperature (LST) layers, obtained from Landsat 8 remote sensing data during the 2015-2019 daytime summer and winter period, to delimitate summer hot- and cool-spots, and winter warm- and cold-spots. Further, these ones were spatially combined thus obtaining a comprehensive summer-winter Thermal Hot-Spot (THSSW) spatial indicator. Winter and summer mean daily thermal comfort profiles were provided for the study area assessing the Universal Thermal Climate Index (UTCI) by using meteorological data available from seven local weather stations, located at a maximum distance of 350 m from industrial sites. A specific focus on industrial sites was carried out by analyzing the industrial buildings characteristics and their surrounding areas (50 m buffer), through the following layers: industrial building area (BA), surface albedo of buildings (ALB), impervious area (IA), tree cover (TC), and grassland area (GA). The novel THSSW classification applied to industrial buildings has shown that about 50% of the buildings were located in areas characterized by summer hot-spots. Increases in BA and IA revealed warming effects on industrial buildings, whereas increases in ALB, TC, and GA disclosed cooling effects. A decrease of about 10% of IA replaced by TC and GA was associated with about 2 °C decrease of LST. Very strong outdoor heat stress conditions were observed during summer daytime, whereas moderate winter outdoor cold stress conditions were recorded during nighttime until the early morning. The thermal spatial hot-spot classification in industrial areas provides a very useful source of information for thermal mitigation strategies aimed to reduce the heat-related health risk for workers.

Retrospective Study on Risk Factors and Short-Term Outcome of Horses Referred for Colic from 2016 to 2022.

(1) Background: colic syndrome is a multifactorial life-threatening condition in equids. Awareness of predisposing and prognostic indicators is useful to adequately inform the owner of the outcome and plan the best treatment. The aim of the study was to identify the variables associated with short-term survival in a cohort of horses referred for colic to a veterinary teaching hospital; (2) Methods: medical records of horses referred for colic from 2016 to 2022 were retrospectively reviewed. Univariate and multivariate regression models were built to assess the odds ratios of discharge from the hospital, both on the whole sample and in those patients undergoing surgery; (3) Conclusions: Month, time of admission, cardiovascular variables (heart rate on admission and after 3-6 h, packed cell volume, capillary refill time, and mucosal membranes), and presence of gastric reflux were significantly associated with discharge in the univariate regression in all horses and in those surgically treated. In the multivariate regression model, heart rate, packed cell volume, and capillary refill time showed significant association with the outcome in the whole sample. Although comparison between this study and previous studies is difficult due to the number and type of variables included, cardiovascular variables and markers of hypovolemia were also shown to be associated with outcome.

Equine Gastric Squamous Cell Carcinoma in a Friesian Stallion.

A 7-year-old Friesian stallion with a history of oesophageal stenosis, weight loss, inappetence, and recurrent hyperthermia was referred for gastroscopy. The stomach mucosa surrounding the oesophageal opening showed a large, necrotic, and ulcerated mass. On post-mortem examination, a very large, cauliflower-like neoplasm was seen, affecting non-glandular gastric mucosa. Nodular lesions were observed, scattered on the omentum, the spleen, and the liver. Microscopic findings allowed the diagnosis of gastric squamous cell carcinoma with abdominal metastasis. Biomolecular investigations demonstrated the presence of EcPV-2 genes in neoplastic lesions, thus supporting the role of EcPV-2 in the ethiology of equine gastric cancer.

2D-SWE of the Metacarpophalangeal Joint Capsule in Horses.

(1) Two-dimensional shear wave elastography (2D-SWE) employs an ultrasound impulse to produce transversely oriented shear waves, which travel through the surrounding tissue according to the stiffness of the tissue itself. The study aimed to assess the reliability of 2D-SWE for evaluating the elastosonographic appearance of the distal attachment of the fetlock joint capsule (DJC) in sound horses and in horses with osteoarthritis (OA) (2). According to a thorough evaluation of metacarpophalangeal joint (MCPJ), adult horses were divided in a sound Group (H) and in OA Group (P). Thereafter, a 2D-SWE of MCPJs was performed. Shear wave velocity (m/sec) and Young's modulus (kPa) were calculated independently by two operators at each selected ROI. Statistical analysis was performed with R software. (3) Results: 2D-SWE had good-excellent inter-CC and intra-CC in both groups. Differences in m/s and kPa between Groups H and P were found in transverse scans with lower values in Group P. No correlation with age or DJC thickness was found. (4) Conclusions: 2D-SWE was repeatable and reproducible. In Group H, DJC was statistically stiffer than in Group P only in transverse scan. The technique showed poor sensitivity and specificity in differentiating fetlocks affected by OA.