Objective: To determine the phenotype, inheritance characteristics, and risk factors for idiopathic epilepsy (IE) in Finnish Spitz dogs (FSDs).
Design: Prospective epidemiological study.
Animals: 2,141 FSDs.
Procedures: From 2003 to 2004, questionnaires (n = 5,960) were sent to all owners of 1-to 10-year-old FSDs in Finland. Phone interviews were performed 1 to 2 years later.
Results: Estimated prevalence of IE was 5.36% (111/2,069 of FSDs that were still alive). Males were predisposed to IE. The median age of onset was 3 years (range, 0.6 to 10 years). The median seizure frequency was 2 seizures/y (range, 0.5 to 48 seizures/y), and the median duration of the seizure episode was 11.75 minutes (range, 1.5 to 90 minutes). The majority (85%) of the seizures had a focal onset, and 54% were characterized as generalized secondary. A generalized seizure phase was determined to be a risk factor for development of progressive disease. Factors associated with the occurrence of a generalized phase were the age of onset, duration of the seizure, number of feeding times per day, and whether the dog was used for hunting. The seizures were not progressing in 678% of the dogs and were easily controlled by antiepileptic treatment in 78.9% of the dogs. The heritability estimate of IE in FSDs was 0.22; IE was best explained as a polygenic trait.
Conclusions And Clinical Relevance: In the present study conducted in Finland, complex focal seizures were the most common seizure type for FSDs with IE, and a generalized seizure phase was a risk factor for progression of the disease. Results suggested a benign course of epilepsy in FSDs.
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http://dx.doi.org/10.2460/javma.243.7.1001 | DOI Listing |
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
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Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Background: Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal-dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β-tubulin isotype. To date, only eight more families with similar TUBB4B-associated sensorineural disease (SND) have been reported.
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January 2025
Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridgeshire, CB3 0ES, UK.
Retinopathy with Vitamin E Deficiency (RVED) is a familial disease in the English Cocker Spaniel (ECS) dog breed. Ophthalmic abnormalities observed in RVED-affected ECS include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficit.
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January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
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January 2025
Center for Clinical Transfusion Medicine Tuebingen, Tuebingen, Germany.
In this article, our goal is to offer an introduction and overview of the diagnostic approach to inherited platelet function defects (iPFDs) for clinicians and laboratory personnel who are beginning to engage in the field. We describe the most commonly used laboratory methods and propose a diagnostic four-step approach, wherein each stage requires a higher level of expertise and more specialized methods. It should be noted that our proposed approach differs from the ISTH Guidance on this topic in some points.
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