No abstract

Pansteatitis is caused by the consumption of high levels of unsaturated fatty acids and/or the insufficient intake of vitamin E, leading to inflammation of adipose tissue. This disease has been related to fish-based diets. However, non-conventional diets must also be considered. The authors present case records of two cats with pansteatitis, for which diet consisted mostly of pig's brain, comparing them with eight cases of disease in cats eating mainly oily fish. Cats fed pig's brain did not show clinical signs, while cats eating oily fish presented inappetence, depression, reluctance to move and subcutaneous nodules painful on palpation. Cats eating pig's brain did not show any change in blood parameters, while cats fed oily fish presented leukocytosis and anaemia. Histological examination confirmed pansteatitis in all cats, independently of the diet. All animals except one of the cats eating oily fish recovered after medical treatment and change of the feeding regime.

The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH syndrome, whereas the C759F mutation, regardless of being associated with the 2299delG mutation or not, was identified in cases with nonsyndromic RP, as well as in patients with RP associated with a variability of hearing impairment. The comparative analysis of both phenotypic and genotypic data supports the hypothesis that sensorineural hearing loss in patients with RP may depend on the nature and on the association of the USH2A allele variants present.

Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation screening of the MYO7A gene was carried out in a series of 48 unrelated USH1 families using single strand conformation polymorphism analysis (SSCP) and direct sequencing of those fragments showed an abnormal electrophoretic pattern. Twenty-five mutations were identified in 23 out of the 48 families studied (47.9%). Twelve of these mutations were novel, including five missense mutations, three premature stop codons, three frameshift, and one putative splice-site mutation. Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome.

No abstract

0=0.000 for D3S1279), the same location that had previously been assigned to some USH3 families. (7 Med Genet 1998;35:391-398)

OCT and mfERG are useful in the diagnosis and monitoring of dry AMD patients, whilst mfERG is the most sensitive technique to study the progression of this disease in short periods of time.

No abstract