Amyloidosis is a group of disorders characterised by the injurious deposition of abnormal proteins in tissues. Most common in cattle and other animals is secondary or reactive systemic amyloidosis associated with chronic inflammation, resulting in deposition of acute-phase serum amyloid A (SAA) in organs like the kidneys, liver, and spleen. While chronic diseases like mastitis, metritis and pododermatitis are usually the most common diseases identified as inflammatory sources, any persistent inflammation can trigger this disorder. Cattle affected by amyloidosis often exhibit symptoms like weight loss and kidney dysfunction. Here we present the case of a five-year-old Holstein Friesian referred to the University of Glasgow for weight loss and chronic diarrhoea. Clinical examination revealed low body condition score, watery diarrhoea, mild dehydration (5%), mild submandibular oedema, left renomegaly, and udder cleft dermatitis. Biochemistry and urine analysis indicated hypoalbuminemia with normal globulin levels and marked proteinuria. Given the poor prognosis, the animal was euthanised on welfare grounds. Gross postmortem findings suggested a diagnosis of secondary amyloidosis, and histopathology confirmed SAA deposition in the glomeruli and renal medullary interstitium. In the absence of another grossly appreciable chronic inflammatory focus/ foci the udder cleft dermatitis was considered the likely contributing comorbidity.
Bovine erythropoietic protoporphyria (BCEPP) is a rare genetic disorder predominantly affecting Limousin and, sporadically, Blonde Aquitaine cattle. It arises from diminished or absent ferrochelatase activity, causing the toxic buildup of protoporphyrin in tissues. This accumulation leads to photosensitivity and seizures upon exposure to sunlight. Here, we report a case of a female Limousin calf exhibiting BCEPP signs, including photosensitivity, skin lesions, ataxia, and seizure. Clinical examination and ancillary tests ruled out photosensitivity related to direct ingestion or hepatogenous toxins. Photosensitivity due to aberrant porphyrin accumulation, specifically BCEPP and Congenital Erythropoietic Porphyria (CEP), emerged as the primary differential diagnoses. Notably, the absence of characteristic signs such as "pink teeth" and anaemia, which are indicative of CEP, distinguished BCEPP. A homozygous autosomal recessive mutation in the ferrochelatase gene (FECH) confirmed the BCEPP diagnosis by genetic testing. The animal's welfare led to euthanasia and subsequent farm control strategies aimed at preventing further genetic transmission. To eliminate the chance of transmitting the genetic mutation, the decision was made to switch to a pure Aberdeen Angus bull. In conclusion, this case emphasises the significance of a comprehensive diagnostic approach. The farm history, clinical examination, and ancillary testing helped to narrow down other differential diagnoses further. The distinction between BCEPP and CEP rested on observable clinical indicators and breed specificity. The targeted genetic testing confirmed BCEPP paving the way for the correct herd health approach.
AbstractThis observational study aimed to describe the diurnal pattern of reticuloruminal contraction rate (RRCR) and the proportion of time spent ruminating by cattle, using two commercial devices equipped with triaxial accelerometers: an indwelling bolus (placed in the reticulum) and a neck collar. The three objectives of this study were firstly to determine whether the indwelling bolus provided observations consistent with RRCR as determined by clinical examination using auscultation and ultrasound, secondly to compare estimates of time spent ruminating using the indwelling bolus and a collar-based accelerometer, and finally to describe the diurnal pattern of RRCR using the indwelling bolus data. Six rumen-fistulated, non-lactating Jersey cows were fitted with an indwelling bolus (SmaXtec Animal Care GmbH, Graz, Austria) and a neck collar (Silent Herdsman, Afimilk Ltd. Kibbutz Afikim, Israel), and data were collected over two weeks. Cattle were housed together in a single straw-bedded pen and fed ad libitum hay. To assess the agreement between the indwelling bolus and traditional methods of assessing reticuloruminal contractility in the first week, the RRCR was determined over 10 min, twice a day, by ultrasound and auscultation. Mean inter-contraction intervals (ICI) derived from bolus and ultrasound, and from auscultation were 40.4 ± 4.7, 40.1 ± 4.0 and 38.4 ± 3.3 s. Bland–Altmann plots showed similar performance of the methods with small biases. The Pearson correlation coefficient for the time spent ruminating derived from neck collars and indwelling boluses was 0.72 (highly significant, P < 0.001). The indwelling boluses generated a consistent diurnal pattern for all the cows. In conclusion, a robust relationship was observed between clinical observation and the indwelling boluses for estimation of ICI and, similarly, between the indwelling bolus and neck collar for estimating rumination time. The indwelling boluses showed a clear diurnal pattern for RRCR and time spent ruminating, indicating that they should be useful for assessing reticuloruminal motility.
Background Hypohidrotic ectodermal dysplasia (HED) is a congenital syndrome of mammals affecting organs and tissues of ectodermal origin characterized by absence or hypoplasia of hair, teeth, and eccrine glands. The disorder has been reported in several species, including humans, mice, dogs and cattle, associated with variants in genes affecting the ectodysplasin pathway, including the X-linked ectodysplasin A (EDA) gene. Until now, nine pathogenic variants have been found in the bovine EDA gene. Here we report a novel variant in EDA in a crossbreed male Belgian Blue calf with HED, and provide an overview of the phenotypic and allelic heterogeneity of EDA-related forms of HED in cattle. Case presentation A 45-day-old male crossbreed British Blue calf was referred with congenital hypotrichosis, oligodontia and omphalitis. On histopathological examination of the nasal planum, nasolabial glands and ducts were not observed. The density of hair follicles was low, and they were small, with a predominance of telogen-phase hairs, and some serocellular crusts. The phenotype of the calf resembled that of HED. Whole-genome sequencing (WGS) was performed and revealed a 21,899 base-pair deletion encompassing the coding exon 2 of EDA, predicted to result in an altered transcript and aberrant protein. Conclusions The clinicopathological and genetic findings were consistent with a case of X-linked HED. A very similar EDA deletion has been previously reported in a family of Holstein cattle with HED. The newly identified hemizygous EDA loss-of-function variant is certainly pathogenic and therefore is the genetic cause for the observed phenotype. This case report provides an additional example of the potential of WGS-based precise diagnostics in livestock species such as cattle to increase the diagnostic yield in rare diseases.
Additional file 2. List of 21 remaining protein-changing variants with a predicted moderate or high impact only present in the affected calf after the comparison to the global control cohort of 5116 genomes of other breeds.