purpose: to evaluate the clinical manifestations and results of lensectomy in patients with hereditary lens subluxation at labbafinejad medical center, tehran-iran from 1996 t 2003. method: in an interventional case series, records of patients with hereditary lens subluxation who had undergone lensectomy were reviewed. patients with at least 6 months of follow up were included. background disea...

Brain and Brainstem ...............................................................................................................S111 Multiple Sclerosis ...............................................................................................................S111 Other Diseases of Myelin ..................................................................................................S11...

Background. In many countries, problems of rare orphan diseases have recently been discussed, more specifically, hereditary neuromuscular (HNMDs). As for 2020 data, there were about 400 million people worldwide suffering from different types which comprise over 7,000 nosologies. The data official statistics in countries do not provide detailed information on the prevalence HNMDs; it is possible...

This article reviews nutritional and hormonal influences, diseases with uncertain etiology, and hereditary disorders affecting the growth and development of the long bones in dogs and cats.

Mutations in almost 200 genes are associated with hereditary retinal diseases. Of these diseases, retinitis pigmentosa (RP) is the most common and is genetically and clinically highly heterogeneous. At least 62 genes are associated with RP and mutations in these genes account for approximately half of the cases of disease. In the present study, mutations in the CHM gene, which are known to asso...

The article is devoted to the problem of ensuring right health protection and medical care, organization provision care children with rare (orphan) diseases are great relevance today, due increased attention it not only in Russia, but throughout world. This mainly high level economic social burden diseases. Orphan include congenital (hereditary) or acquired diseases, frequency which country wor...

Many of the congenital neurologic diseases can result in incapacity or death of the animal. Some of them, such as idiopathic epilepsy and hydrocephalus, exhibit breed or familial predisposition and a genetic basis was proved or suggested. Some diseases can be presumptively diagnosed after a detailed signalment (breed predisposition), history (e.g. family history because many of these defects ha...

Genodermatoses are a heterogeneous group of hereditary diseases that characterized by predominantly skin lesions. To date, there more than 200 genetically determined diseases, representing about 35 % all syndromes. In some cases, lesions may be the only manifestation disease, but still often, they occur in combination with disorders other organ systems. many genodermatoses associated an increas...