Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.

Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG). Human PHA is caused by heterozygous loss of function variants in the LBR gene encoding lamin receptor B. Bi-allelic variants and complete deficiency of LBR cause the much more severe Greenberg skeletal dysplasia which is lethal in utero and characterized by massive skeletal malformation and gross fetal hydrops. HG phenotypes have also been described in domestic animals and homology to human PHA has been claimed in the literature. We studied a litter of Australian Shepherd Dogs with four stillborn puppies in which both parents had an HG phenotype. Linkage analysis excluded LBR as responsible gene for the stillborn puppies. We then investigated the HG phenotype in Australian Shepherd Dogs independently of the prenatal lethality. Genome-wide association mapped the HG locus to chromosome 27 and established an autosomal recessive mode of inheritance. Whole genome sequencing identified a splice site variant in LMBR1L, c.191+1G>A, as most likely causal variant for the HG phenotype. The mutant allele abrogates the expression of the longer X2 isoform but does not affect transcripts encoding the shorter X1 isoform of the LMBR1L protein. The homozygous mutant LMBR1L genotype associated with HG is common in Australian Shepherd Dogs and was found in 39 of 300 genotyped dogs (13%). Our results point to a previously unsuspected function of LMBR1L in the myeloid lineage of leukocytes.

Ex vivo comparison of 3 Tesla magnetic resonance imaging and multidetector computed tomography arthrography to identify artificial soft tissue lesions in equine stifles.

OBJECTIVE: To determine the diagnostic performance of computed tomographic arthrography (CTA) and 3 Tesla magnetic resonance imaging (MRI) for detecting artificial meniscal, meniscotibial ligament (MTL) lesions and cruciate ligament (CL) lesions in horses. STUDY DESIGN: Ex vivo controlled laboratory study. ANIMALS: Nineteen stifles from adult horses. METHODS: Stablike defects (n = 84) (16 mm long, 10 mm deep) were created in the menisci (n = 35), CLs (n = 24), and MTLs (n = 25) via arthroscopy prior to MRI and CTA (80 mL contrast at 85 mg/mL per joint). Two radiologists, unaware of the lesions, reached a consensus regarding the presence of lesions, based on 2 reviews of each study. Sensitivity and specificity of MRI and CTA were determined using arthroscopy as a reference and compared with McNemar's tests. RESULTS: The sensitivity and specificity of MRI (41% and 86% respectively) and CTA (32% and 90% respectively) did not differ (P = .65). The sensitivity (MRI: 24%-50%; CTA:19%-40%) and specificity (MRI: 75%-92%; CTA 75%-100%) of imaging modalities did not differ when detecting lesions of the menisci, MTLs, and CLs (P = .1-1.0). The highest sensitivities were achieved when MTLs were evaluated with MRI (50%) and CLs with both modalities (40%). CONCLUSIONS: The diagnostic performance of CTA was comparable with that of MRI, with a low to moderate sensitivity and high specificity. CLINICAL SIGNIFICANCE: Computed tomographic arthrography should be considered as an adjunct to diagnose CL injuries. This is important for equine clinicians, as the CL cannot be visualized adequately using basic imaging techniques preoperatively.

A retrospective multicenter study on the use of locking compression plates for scapulohumeral arthrodesis in small equids.

OBJECTIVE: To report on technical aspects and outcomes after scapulohumeral arthrodesis (SHA) with a locking compression plate (LCP) in small equids. STUDY DESIGN: Retrospective multicenter case series. ANIMALS: Client-owned Shetland Ponies, Miniature Shetlands, and American Miniature Horses (n = 15). METHODS: Inclusion criteria were completed SHA with an LCP to treat scapulohumeral osteoarthritis/subluxation and availability of postoperative radiographs. Contributing surgeons completed a questionnaire to collect data. All radiographs were reviewed for this study. Follow-up information was obtained via re-admission to the hospital or telephone interview of the referring veterinarian or owner. Outcome was subjectively scored as excellent, good, moderate, or poor based on lameness and function. RESULTS: Sixteen SHAs were performed in 15 equids (body weight 65-145 kg) by nine different surgeons. A narrow 4.5/5.0 mm LCP (7-16 holes) was used in 14 of the 16 SHAs. Follow-up was collected 2.5 years after surgery (median; range: 9 weeks to 10 years). Major complications related to the SHAs were noted in 4 of the 13 horses alive long term, consisting of implant failure (n = 1), surgical site infection (n = 2), and scapular fracture (n = 1). The outcome was graded as excellent in 4, good in 5, and moderate in 4 horses. Two ponies were euthanized because scapulohumeral osteoarthritis and subluxation developed in the contralateral limb. CONCLUSION: Although major complications occurred in about one-third of ponies, SHA with LCP led to long-term survival with good function in most ponies. CLINICAL SIGNIFICANCE: SHA with an LCP offers a high chance for good long-term outcome in small equids although contralateral disease may affect outcome.

Outcome of Ventral Fusion of Two or Three Cervical Vertebrae with a Locking Compression Plate for the Treatment of Cervical Stenotic Myelopathy in Eight Horses.

OBJECTIVES: It was recently shown that biomechanical stability achieved with a locking compression plate (LCP) for ventral cervical fusion in horses is similar to the commonly used Kerf cut cylinder. The advantages of the LCP system render it an interesting implant for this indication. The goal of this report was to describe surgical technique, complications and outcome of horses that underwent ventral fusion of two or three cervical vertebrae with an LCP. METHODS: Medical records of eight horses were reviewed for patient data, history, preoperative grade of ataxia, diagnostic imaging, surgical technique and complications. Follow-up information was obtained including clinical re-examination and radiographs whenever possible. RESULTS: Two (n = 5) or 3 (n = 3) cervical vertebrae were fused in a mixed population with a median age of 9 months, median weight of 330 kg and median grade of ataxia of 3/5. A narrow 4.5/5.0 LCP (n = 6), a broad 4.5/5.0 LCP (n = 1) and a human femur 4.5/5.0 LCP (n = 1) were applied. Two horses were re-operated due to implant loosening. Six patients developed a seroma. Long-term complications included ventral screw migration in four, spinal cord injury in one and plate breakage in two horses at 720 to 1116 days after surgery. Outcome was excellent in three, good in four, poor in one patient. CLINICAL SIGNIFICANCE: The use of an LCP for ventral cervical vertebral fusion is associated with good clinical results. However, a careful surgical technique is required to further reduce the complication rate.

Comparison between magnetic resonance imaging, computed tomography, and arthrography to identify artificially induced cartilage defects of the equine carpal joints.

While articular cartilage changes are considered to be one of the initial events in the pathological cascade leading to osteoarthritis, these changes remain difficult to detect using conventional diagnostic imaging modalities such as plain radiography. The aim of this prospective, experimental, methods comparison study was to compare the sensitivity of magnetic resonance imaging (MRI), magnetic resonance arthrography, computed tomography (CT), and CT arthrography in the detection of artificially induced articular cartilage defects in the equine carpal joints. Defects were created in the antebrachiocarpal and middle carpal joint using curettage by a board-certified equine surgeon. Normal articular cartilage thickness varied from a maximum of 1.22 mm at the level of the distal aspect of the radius to a minimum of 0.17 mm in the proximal articular surface of the third carpal bone. Regarding cartilaginous defect measurements the remaining cartilaginous bed range from a maximum of 0.776 mm in the partial thickness defects, and 0 mm (defect reaches the subchondral bone) when total thickness defect were made. Computed tomography and magnetic resonance imaging were performed followed by CT arthrography and magnetic resonance arthrography after antebrachiocarpal and middle carpal intraarticular contrast administration. All images were reviewed by two board-certified veterinary radiologists, both of whom were blinded to the location, presence of, and thickness of the cartilage defects. A total number of 72 lesions in nine limbs were created. Mean sensitivity for localizing cartilage defects varied between imaging modalities with CT arthrography showing the best sensitivity (69.9%), followed by magnetic resonance arthrography (53.5%), MRI (33.3%), and CT (18.1%) respectively. The addition of contrast arthrography in both magnetic resonance and CT improved the rate of cartilage lesion detection although no statistical significance was found. Computed tomographic arthrography displayed the best sensitivity for detecting articular cartilage defects in the equine antebrachiocarpal and middle-carpal joints, compared to magnetic resonance arthrography, MRI, and CT.