Search Results (9)

Jack Russell terriers (JRTs) with gastrointestinal (GI) neoplastic polyps have been recently reported to harbor an identical germline variant in the adenomatous polyposis coli (APC) gene, c.[462_463delinsTT], in the heterozygous state, which indicates that this disease is an autosomal dominant hereditary disorder. Many individual cases of this disease have been observed in clinical practice; however, familial transmission has not been demonstrated due to the difficulty in tracing the family members of household dogs, especially after the disease’s onset in adulthood. Recently, we encountered two cases of GI polyposis in maternal half sisters. These two cases facilitated the identification of additional relatives spanning three generations, including parents, full and half siblings of the dam (aunt and uncle), littermate and non-littermate siblings, and a nephew. Genetic analysis revealed that 11 of the 14 examined JRTs in this family carried the heterozygous germline APC variant, and eight dogs with the variant already had a current and/or past medical history of GI neoplastic polyps. Some cases in the family showed significantly more severe disease phenotypes than those initially reported, suggesting that the severity of this disease can vary considerably among individuals. Moreover, familial aggregation of severe cases suggested that the genetic modifier involved in increasing severity may have been transmitted in this family in addition to the germline APC variant. Furthermore, in addition to this family, we reported two other families of JRTs affected by hereditary GI polyposis that consisted of five full and half siblings and a mother–daughter pair, respectively. These findings unequivocally establish the transgenerational transmission of hereditary GI polyposis associated with the germline APC variant in JRT lineages. Full article

Collision tumors (CT) consist of two independent neoplasms with distinct neoplastic populations. Disorders of sexual development (DSDs) are characterized by atypical sexual development leading to various abnormalities of the genital tract. Sex reversal (SR) syndromes are a type of DSD characterized by a discrepancy between chromosomal sex and gonadal development (testes/ovaries) and the presence or the absence of the SRY gene. A phenotypically female 8-year-old Jack Russell terrier dog was referred due to anomalous vaginal discharge and non-pruritic cutaneous bilateral symmetrical alopecia on the flanks. During abdominal palpation, a voluminous mass was detected in the left quadrant area, later confirmed by ultrasound. The owner decided to proceed with euthanasia and necropsy. In the abdominal cavity, the left gonad was increased in size, the right one and the uterus were decreased, and the vagina and vulva appeared to be thickened. Histologically, both gonads were revealed to be testes: the left one was affected by a double neoplastic component (sustentacular tumor and interstitial cell tumor), whereas the right gonad showed coarctated seminiferous tubules. PCR amplification of the genes SRY and AMELX revealed the absence of the MSY region of the Y chromosome. To the authors’ knowledge, this is the first report describing a case of a testicular collision tumor in a DSD SRY-negative dog. Full article

A 2-month-old male 1.56 kg Yorkshire terrier (Case No. 1) and a 3-month-old male 2.3 kg Jack Russell Terrier (Case No. 2) were scheduled for ophthalmological surgery under general anaesthesia and neuromuscular blockade. For both patients, volume-controlled ventilation (VCV) was used with set tidal volumes (V_T) of 13 mL/kg and 20 mL/kg for cases No. 1 and 2, respectively. The type of ventilator used did not take into account the intrinsic compliance of the breathing system; therefore, a significant part of the delivered V_T was wasted in the expansion of the breathing system, and did not reach the patients, causing alveolar hypoventilation. Both cases developed low dynamic compliance (C_D), and after a recruitment manoeuvre, EtCO₂ of up to 116 mmHg and 197 mmHg were revealed for cases No. 1 and 2, respectively. The two cases had to be ventilated manually, using positive inspiratory pressures (PIP) of 20–25 mmHg, in order to improve alveolar ventilation and reduce the EtCO₂, as adjustments to the VCV were ineffective. Both patients maintained an oxygen haemoglobin saturation between 94% and 100% throughout the procedure and they recovered well. Using a higher V_T from the beginning, to compensate for the compliance of the breathing system, or the use of pressure-controlled ventilation (PCV), could have potentially helped to avoid these two incidences of severe hypercapnia. Full article

Hereditary GI polyposis in JRTs is a novel hereditary disease characterized by the development of solitary and multiple polypoid tumors, predominantly in the stomach and/or colorectum. Our recent study indicated that JRTs with GI neoplastic polyps harbor an identical germline variant in the APC gene, c.[462_463delinsTT], in a heterozygous state. Unlike sporadic cases, dogs afflicted with hereditary GI polyposis can be expected to have a prolonged survival time, as hereditary tumors are noninvasive. Since the discovery of this disease, the number of newly diagnosed cases in Japan has increased, allowing us to update the clinical and pathological features and provide a large number of diagnostic images. The present clinical case series study employing various diagnostic imaging techniques revealed that some of the cases harbored tumors in the small intestine in addition to the stomach and colorectum. Moreover, although rare, hereditary GI cancers can progress to the advanced stage and develop systemic metastasis, similar to sporadic GI tumors. These findings indicate that there is a wider range of variation in disease severity than was initially recognized. Our results can contribute to the accurate diagnosis of hereditary GI polyposis in clinical practice, pathological examinations, and future research. Full article

The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation. Genetic changes, or mutations, that give rise to a pathology in most cases result from recessive alleles that are normally found with minority allelic frequency. The use of genetic improvement increases the consanguinity within canine breeds and, on many occasions, also increases the frequency of these recessive alleles, increasing the prevalence of these pathologies. This prevalence has been known for a long time, but mutations differ according to the canine breed. These genetic diseases, including skin diseases, or genodermatosis, which is narrowly defined as monogenic hereditary dermatosis. In this review, we focus on genodermatosis sensu estricto, i.e., monogenic, and hereditary dermatosis, in addition to the clinical features, diagnosis, pathogeny, and treatment. Specifically, this review analyzes epidermolytic and non-epidermolytic ichthyosis, junctional epidermolysis bullosa, nasal parakeratosis, mucinosis, dermoid sinus, among others, in canine breeds, such as Golden Retriever, German Pointer, Australian Shepherd, American Bulldog, Great Dane, Jack Russell Terrier, Labrador Retriever, Shar-Pei, and Rhodesian Ridgeback. Full article

Neuroglial choristomas are rare malformations consisting of heterotopic mature neural tissue at a site isolated from the brain or spinal cord. In human medicine, neuroglial choristomas are predominantly reported in the head and in the neck, except for one recent case reported in a foot of a child. In domestic animals, neuroglial choristomas are exceedingly rare, reported only in the retina of a dog, in the pharynx and in the skin of two kittens, and within the oropharynx of a harbor seal. A three-year-old intact female Jack Russell Terrier presented for elective ovariectomy exhibited a cystic lesion 2 cm in diameter expanding in the right ovary. Histological examination of the lesion revealed a mass composed of well-organized neuroglial tissue. Immunohistochemistry with primary antibodies against GFAP, NSE, and IBA-1 confirmed the neuroglial origin of the mass. At the time of this writing, 7 years after ovariectomy, the dog was clinically normal. Together with a recent case described in the foot of a child, this case confirms that neuroglial choristoma may also be found far from the skull or spine, supporting the hypothesis that they may arise from an early embryological migration defect. Full article

Breed predispositions to canine digital neoplasms are well known. However, there is currently no statistical analysis identifying the least affected breeds. To this end, 2912 canine amputated digits submitted from 2014–2019 to the Laboklin GmbH & Co. KG for routine diagnostics were statistically analyzed. The study population consisted of 155 different breeds (most common: 634 Mongrels, 411 Schnauzers, 197 Labrador Retrievers, 93 Golden Retrievers). Non-neoplastic processes were present in 1246 (43%), tumor-like lesions in 138 (5%), and neoplasms in 1528 cases (52%). Benign tumors (n = 335) were characterized by 217 subungual keratoacanthomas, 36 histiocytomas, 35 plasmacytomas, 16 papillomas, 12 melanocytomas, 9 sebaceous gland tumors, 6 lipomas, and 4 bone tumors. Malignant neoplasms (n = 1193) included 758 squamous cell carcinomas (SCC), 196 malignant melanomas (MM), 76 soft tissue sarcomas, 52 mast cell tumors, 37 non-specified sarcomas, 29 anaplastic neoplasms, 24 carcinomas, 20 bone tumors, and 1 histiocytic sarcoma. Predisposed breeds for SCC included the Schnauzer (log OR = 2.61), Briard (log OR = 1.78), Rottweiler (log OR = 1.54), Poodle (log OR = 1.40), and Dachshund (log OR = 1.30). Jack Russell Terriers (log OR = −2.95) were significantly less affected by SCC than Mongrels. Acral MM were significantly more frequent in Rottweilers (log OR = 1.88) and Labrador Retrievers (log OR = 1.09). In contrast, Dachshunds (log OR = −2.17), Jack Russell Terriers (log OR = −1.88), and Rhodesian Ridgebacks (log OR = −1.88) were rarely affected. This contrasted with the well-known predisposition of Dachshunds and Rhodesian Ridgebacks to oral and cutaneous melanocytic neoplasms. Further studies are needed to explain the underlying reasons for breed predisposition or “resistance” to the development of specific acral tumors and/or other sites. Full article

A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The histology confirmed the marked size variation, regeneration, and fibrosis replacement of the skeletal muscle fibers. Immunohistochemistry demonstrated the absence of dystrophin confirming the diagnosis. Transmission electron microscopy showed disarrangement of skeletal muscle fibers. Finally, whole-genome sequencing identified a ~368kb deletion spanning 19 exons of the canine dystrophin (DMD) gene. This pathogenic loss-of-function variant most likely explains the observed disease phenotype. The X-chromosomal variant was absent in seven controls of the same breed. Most likely, this partial deletion of the DMD gene was either transmitted on the maternal path within the family of the affected dog or arose de novo. This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin. Full article

To increase the public’s awareness of and exposure to animals needing homes, PetRescue, Australia’s largest online directory of animals in need of adoption, lists all currently available animals from rescue and welfare shelters nationwide. The current study examined the photographs in the PetRescue online profiles of the three most common breeds within these data, namely, Staffordshire bull terriers (n = 3988), Labrador retrievers (n = 2246), and Jack Russell terriers (n = 2088), to identify the inferred preferences of potential adopters. By investigating the attributes of these photographs, we were able to identify visual risk factors associated with protracted lengths of stay (LOS). The longest stays were associated with dogs with erect ears and those photographed in a natural environment, i.e., 18.32 days and 19.57 days, respectively. Dogs photographed in a kennel and with mouths closed had the shortest LOS, i.e., 11.54 d and 14.44 d, respectively. Heightened awareness of the roles of photographic attributes in generating interest among potential adopters may increase the speed of adoption by guiding the creation of online profiles and selection of photos to optimise the promotion of dogs at risk of long stays. Full article