Feline precision medicine using whole-exome sequencing identifies a novel frameshift mutation for vitamin D-dependent rickets type 2.

OBJECTIVES: A 14-week-old female domestic longhair kitten presented with shifting lameness and disproportionately smaller size compared with a co-housed littermate. METHODS: Hematology and serum biochemical testing were conducted to investigate causes for delayed growth, and radiographs of the appendicular skeleton were obtained. RESULTS: The afflicted kitten had marked hypocalcemia, mild hypophosphatemia and substantial elevations in alkaline phosphatase activity, as well as pathognomonic radiographic findings consistent with rickets. Skeletal changes and hypocalcemia prompted testing of concentrations of parathyroid hormone (PTH) and vitamin D metabolites. Endocrine testing demonstrated significant increases in serum concentrations of PTH and 1,25-dihydroxycholecalciferol (calcitriol), supporting a diagnosis of vitamin D-dependent rickets type 2. Provision of analgesia, supraphysiologic doses of calcitriol and calcium carbonate supplementation achieved normalization of the serum calcium concentration and restoration of normal growth, although some skeletal abnormalities persisted. Once skeletally mature, ongoing calcitriol supplementation was not required. Whole-exome sequencing (WES) was conducted to identify the underlying DNA variant. A cytosine deletion at cat chromosome position B4:76777621 in VDR (ENSFCAT00000029466:c.106delC) was identified and predicted to cause a stop codon in exon 2 (p.Arg36Glufs*18), disrupting >90% of the receptor. The variant was unique and homozygous in this patient and absent in the sibling and approximately 400 other cats for which whole-genome and whole-exome data were available. CONCLUSIONS AND RELEVANCE: A unique, heritable form of rickets was diagnosed in a domestic longhair cat. WES identified a novel frameshift mutation affecting the gene coding for the vitamin D3 receptor, determining the likely causal genetic variant. Precision medicine techniques, including whole-exome and whole-genome sequencing, can be a standard of care in cats to identify disease etiologies, and to target therapeutics and personalize treatment.

A survey of vaccine history in German cats and owners' attitudes to vaccination.

OBJECTIVES: Vaccination is the most important measure for prevention of feline infectious diseases. Cat owner compliance with vaccination recommendations has been investigated in the UK but not in other European countries. The aim of the present study was to determine cat owners' attitudes towards vaccination in cats in Germany, to identify factors that are associated with the vaccination status of their cats and to compare the results with those of the UK survey. METHODS: The survey was conducted using an online questionnaire and was aimed at respondents throughout Germany. Respondents under 16 years of age, cats that were less than 9 weeks old and veterinarians were excluded. A total of 920 questionnaires were evaluated, and information about cats and respondents was assessed with respect to the current vaccination status of the cats using a linear logistic regression model. RESULTS: The majority of cats (77.9%; n = 717) were vaccinated according to current guidelines; only 5.4% (n = 50; 95% confidence interval [CI] 5.00-9.00) of cats had never received a vaccine. Having visited a cattery, a cat show or travelled abroad in the past 12 months (n = 96/773; odds ratio [OR] 6.95; 95% CI 1.65-52.19) had the highest positive impact on the vaccination status of cats. In addition, detailed veterinary advice about vaccination had a positive impact (n = 275/773; OR 2.09; 95% CI 0.67-6.25) on the attitude of owners towards vaccinating their cats. CONCLUSIONS AND RELEVANCE: A history of travelling abroad or visiting cat shows or a cattery, and thus regulatory requirements, had the greatest positive impact on the current vaccination status of the cats. Veterinary consultation on preventive measures, including vaccination, is crucial for protecting the cat population against infectious diseases.

Effectiveness of acupuncture in veterinary medicine: systematic review.

Acupuncture is a popular complementary treatment option in human medicine. Increasingly, owners also seek acupuncture for their animals. The aim of the systematic review reported here was to summarize and assess the clinical evidence for or against the effectiveness of acupuncture in veterinary medicine. Systematic searches were conducted on Medline, Embase, Amed, Cinahl, Japana Centra Revuo Medicina and Chikusan Bunken Kensaku. Hand-searches included conference proceedings, bibliographies, and contact with experts and veterinary acupuncture associations. There were no restrictions regarding the language of publication. All controlled clinical trials testing acupuncture in any condition of domestic animals were included. Studies using laboratory animals were excluded. Titles and abstracts of identified articles were read, and hard copies were obtained. Inclusion and exclusion of studies, data extraction, and validation were performed independently by two reviewers. Methodologic quality was evaluated by means of the Jadad score. Fourteen randomized controlled trials and 17 nonrandomized controlled trials met our criteria and were, therefore, included. The methodologic quality of these trials was variable but, on average, was low. For cutaneous pain and diarrhea, encouraging evidence exists that warrants further investigation in rigorous trials. Single studies reported some positive intergroup differences for spinal cord injury, Cushing's syndrome, lung function, hepatitis, and rumen acidosis. These trials require independent replication. On the basis of the findings of this systematic review, there is no compelling evidence to recommend or reject acupuncture for any condition in domestic animals. Some encouraging data do exist that warrant further investigation in independent rigorous trials.