Case report: Primary chronic calcaneal bursitis treated with subtotal bursectomy in a cat.

A 6-year-old, female spayed Bengal cat with a bodyweight of 6.4 kg was presented with swelling of the bilateral calcaneal region and weight-bearing hindlimb lameness with a 4-month history of unsuccessful conservative therapy. On orthopedic examination, a cyst-like mass around the calcaneal tendon was palpated. Palpating the mass and flexing the tarsal joint triggered pain. Through ultrasonography and magnetic resonance imaging, an inflamed or fluid-accumulated lesion was suspected around the calcaneal tendon, but there was no evidence of calcaneal tendonitis. Swollen calcaneal bursae were removed surgically. Histopathologic examination revealed fibrosis and an edematous feature. The cat was diagnosed with bilateral chronic primary calcaneal bursitis based on history, clinical signs, and diagnostic results. Hence, subtotal bursectomy was performed. At 4 weeks postoperatively, the cat had no pain around the tarsal joints and was ambulating normally. Radiographic and ultrasonographic exams revealed no recurrence of swelling or inflammation in the calcaneal region. Thirteen-month follow-up confirmed acceptable function and no relapse of clinical signs. The inflammation of calcaneal bursa alone can be the primary cause of hindlimb lameness in cats. A cat with hindlimb lameness and swelling on the calcaneal region should be assessed with the possibility of primary calcaneal bursitis. Subtotal calcaneal bursectomy can be considered as an effective treatment for primary chronic bursitis

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causative mutation involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation of c.−14C>T in the 5′-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals. Transfection of wild-type and mutant IFITM5 constructs revealed that the mutation added five amino acids (Met-Ala-Leu-Glu-Pro) to the N terminus of IFITM5. Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V

A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

Despite substantial advances in disease genetics, studies to date have largely focused on individuals of European descent. This limits further discoveries of novel functional genetic variants in other ethnic groups. To alleviate the paucity of East Asian population genome resources, we established the Korean Variant Archive 2 (KOVA 2), which is composed of 1896 whole-genome sequences and 3409 whole-exome sequences from healthy individuals of Korean ethnicity. This is the largest genome database from the ethnic Korean population to date, surpassing the 1909 Korean individuals deposited in gnomAD. The variants in KOVA 2 displayed all the known genetic features of those from previous genome databases, and we compiled data from Korean-specific runs of homozygosity, positively selected intervals, and structural variants. In doing so, we found loci, such as the loci of ADH1A/1B and UHRF1BP1, that are strongly selected in the Korean population relative to other East Asian populations. Our analysis of allele ages revealed a correlation between variant functionality and evolutionary age. The data can be browsed and downloaded from a public website (https://www.kobic.re.kr/kova/). We anticipate that KOVA 2 will serve as a valuable resource for genetic studies involving East Asian populations

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Pelvic Endoprosthesis after Hemipelvectomy Using a 3D-Printed Osteotomy Guide for Infiltrative Osteoma in a Cat

With the development of 3D printing and surgical techniques, various defect reconstruction methods after tumor resection have been applied not only in humans but also in veterinary medicine. This report describes a case of reconstruction after hemipelvectomy for an osteoma in a cat using a 3D-printed pelvic endoprosthesis and micro total hip replacement (mTHR). A 5-year-old spayed female Turkish Angora cat was referred for a 1-month history of constipation and intermittent weight-bearing lameness in the left hindlimb. An osteoma in the pelvis measuring 4.5 × 3 × 5.4 cm was identified based on diagnostic examinations. A left mid-to-caudal partial and right caudal partial hemipelvectomy, and a left femoral head and neck osteotomy, were planned to remove the mass. Reconstruction of the bone defect using 3D-printed metal endoprosthesis and mTHR in the left hindlimb was intended. During right caudal partial hemipelvectomy, right femoral head and neck osteotomy was performed because there was infiltration in the medial wall of the acetabulum. Histopathological examination confirmed the diagnosis of an osteoma. Two weeks post-surgery, surgical debridement and femoral stem removal were performed because of delayed wound healing and sciatic neurapraxia, leading to femoral stem dislocation from the cup. The delayed wound healing and sciatic neurapraxia were appropriately addressed. The cat regained normal weight and defecation 4 weeks post-operatively. Two years post-surgery, the patient recovered with an almost normal gait. Hemipelvectomy with 3D-printed endoprosthesis provides a safe surgical option with favorable outcomes for neoplasms in the pelvis of cats