A rare autosomal recessive condition,congenital erythropoietic porphyria,found in the canefield rat Rattus sordidus Gould 1858

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive condition that has been reported in humans and in some animals, in which uroporphyrin 1 is deposited in the bones, teeth and urine, resulting in pink coloration and fluorescence of the tissues and urine under long‐wave ultraviolet (UV) light. We observed red teeth in nine of 450 canefield rats (Rattus sordidus) captured in a small, isolated patch of sugarcane in Tully, north Queensland, Australia. The skeletons of these animals were excised and were found to be bright red under normal day light. Under UV light, the skeleton had a bright red fluorescence. It is plausible that the canefield rat population in this isolated patch of sugarcane is small and inbreeding might have occurred, resulting in incidences of the autosomal recessive genes that cause CEP. The canefield rat can be used as an animal model for research into porphyria.     

Congenital lacrimal fistula in two prim'Holstein calves

Two 4‐ and 8‐month‐old prim'Holstein calves were presented for chronic epiphora. Examination of the affected eyes revealed an abnormal duct opening inferonasal to the medial canthus. A diagnosis of congenital lacrimal fistula was made based on conventional and computed tomographic‐dacryocystography findings. These revealed an ectopic channel connecting the nasolacrimal duct to the skin opening near the medial canthus. Both of the calves were surgically treated with resection and closure of the ectopic duct and placement of a nasolacrimal stent.     

Atrioventricular valvular anomalies and their role in the etiopathogenesis of cardiorespiratory syndrome in farmed common foxes (Vulpes vulpes)

Background: Cardiorespiratory syndrome of common foxes is associated with a mortality rate ranging from 2.1% to 20%.

Objective: The aim of this study was to analyze the prevalence of cardiac abnormalities in common foxes (Vulpes vulpes) from Polish farms with a history of cardiorespiratory syndrome.

Animals and methods: The prevalence of cardiac abnormalities in common foxes from a Polish farm with a history of cardiorespiratory syndrome was assessed as well as morphological examination of 60 heart specimens from clinically healthy animals. In addition, 38 foxes were examined echocardiographically and subjected to postmortem examination.

Results: Atrioventricular valvular abnormalities were found in 57 out of the 98 (58%) analyzed hearts. The abnormalities of the mitral valve documented in more than 20% of the foxes in involved tendinous chords (completely lacking or shortened), papillary muscles and mitral cusps associated with both insufficiency and stenosis of the left atrioventricular orifice. Abnormalities of the tricuspid valve included significant shortening of the tendinous chords and thickening of the valve cusps with the impairment of their mobility. The results of the echocardiographic and postmortem examination were consistent in 79% of the cases. The specimens collected from animals with and without atrioventricular valvular anomalies did not differ significantly in terms of cardiomyocyte width, number of inflammatory cells, adipose tissue content and presence of polychromatic cardiomyocytes.

Conclusion: Congenital atrioventricular valvular defects may be involved in the etiology of cardiorespiratory syndrome in common foxes, and echocardiography can be used as a measure of stock's health and a criterion for selection for mating.     

仔猪先天性震颤的病理组织学诊断

利用病理组织学方法对仔猪先天性震颠病病例进行诊断。病理组织学主要变化为大脑软脑膜血管充血,脑膜下水肿;大脑白质和脊髓部位的有髓神经髓鞘发育不全,横切面可见神经髓鞘相对数量少,疏密、大小不均,形态差别大。其他脏器见继发性细菌感染病变。     

多层螺旋CT诊断先天性外耳道闭锁的价值

目的探讨多层螺旋CT（MSCT）对先天性外耳道闭锁（CAA）的诊断价值。方法 21例CAA患者采用MSCT扫描,将原始数据进行三维重组。结果 21例患者中共有23耳闭锁,其中骨性闭锁21耳,膜性闭锁2耳;伴外耳道畸形4耳,鼓室发育异常19耳,听小骨畸形9耳,内耳畸形3耳,耳廓结构异常20耳。结论 MSCT可明确显示外耳、中耳、内耳畸形,有助于CAA的临床分型、手术适应证的确定及术式选择。     

Familial episodic ataxia in lambs

Abstract

HISTORY: A similar episodic neurological disorder occurred in new born lambs on two unrelated properties involving disparate breeds of sheep. Because of the number of lambs born, cross-breeding and the fact it occurred in some mating groups and not others, a dominant mode of inheritance was, initially and separately, suspected in each case. The sires of affected lambs were apparently normal. Whereas one was New Zealand Romney, the other was a composite breed with East Friesian genetics, but both rams originated from the same source property. To investigate the pathogenesis of the disorder these two rams were acquired and mated with unrelated sheep, under experimental conditions in a more controlled environment.

CLINICAL FINDINGS: A proportion of lambs born to both sires exhibited a similar neurological disorder. Some lambs were noted to be abnormal at birth, both on home properties and in the experimental flock. They tended to adopt a head and neck extended posture and were slow to get to their feet and suckle when they then became more or less normal. When forced to move, they and other more robust lambs elicited an asymmetric gait, base-wide extensor hypertonia (hypometria) of thoracic limbs and flexor hypertonia (hypermetria) of pelvic limbs. In some there was nystagmus. After several metres of asymmetric ataxic gait they would fall to one side, sometimes adopting a sitting position. Recovery usually occurred in one to several minutes. As lambs aged, it became more difficult to elicit the episodes of dysfunction and by 6 months of age they appeared normal.

DIAGNOSIS: The disorder was diagnosed as a dominant familial episodic cerebellovestibular ataxia inherited as a dominant trait, with incomplete penetration of observed clinical signs and variable expressivity.

CLINICAL RELEVANCE: A proportion of affected lambs are likely to die in the neonatal period so the specific nature of the disorder may go unrecognised. Because of incomplete penetrance and varying expressivity, many of the lambs carrying this mutation will survive without showing clinical signs and may enter breeding flocks, where the disorder may be perpetuated and contribute to neonatal deaths.     

CASE REPORT: Anomalous nasolacrimal openings in a 2‐year‐old Morgan filly

This case report describes the clinical, diagnostic, computed tomography findings, and surgical treatment of a 2‐year‐old Morgan filly with bilateral, proximal, and distal anomalous nasolacrimal duct openings.     

Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats

Objective   To determine the frequency of the mutant pyruvate kinase (PK) allele, haematological parameters and AB blood types of Abyssinian and Somali cats in Australia.
Design   Complete blood cell and reticulocyte counts, DNA PK mutation testing and blood typing were performed in all cats.
Results   A total of 60 cats (36 Abyssinians, 24 Somalis) were included (37 females, 23 males). For the mutant PK allele, three female Somalis were homozygous (affected, 5%), 17 cats were heterozygous (carrier, 28%) and 40 cats tested negative (normal, 67%). Pedigree analysis revealed common ancestry of affected and many carrier cats. Of affected cats, two had regenerative anaemias and all had reticulocytosis (range 64–390 × 10⁹/L; P < 0.001 compared with normal or carrier cats). The only consistent historical sign was lethargy. One affected cat was euthanased 18 months after testing, because of anaemia, neutropenia, anorexia and weight loss. The mutant allele frequency was 0.19 overall (0.29 in Somalis, 0.13 in Abyssinians). All cats had blood type A. The commercial blood typing card method incorrectly identified 12 cats as having type AB blood.
Conclusions    The frequency of the mutant PK allele is high in Australia. Screening for PK deficiency is indicated before mating and in individual cats of these breeds, even in the absence of anaemia and especially when there is reticulocytosis. Although all cats in the present study had blood type A, blood type B is common in these breeds worldwide. Retyping of any AB typed cats by a laboratory technique is recommended.