Spongy degeneration with cerebellar ataxia (SDCA) is a genetically heterogeneous neurodegenerative disorder with autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. Using a combined linkage and homozygosity mapping approach we identified an ∼10.6 Mb critical interval on chromosome 5 in a Malinois family with four puppies affected by cerebel...

A Japanese Black calf, 3 day-old male, showed severe ataxia, lateral recumbency, and opisthotonos at the birth. Histopathological examinations revealed severe status spongiosis throughout the central nervous system. Numerous vacuoles within the neuropile varying in size and shape were observed in both formalin-fixed paraffin and cryostat sections. In the lesions, a limited number of spheroids a...

The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely heterogeneous because MD may involve several tissues with different degrees of severity. Muscle and brain are mostly affected, probably because of their high dependence on oxidative metabolism. Muscle can be the only affected tissue or involved ...

A prediction rule to identify low-risk patients with community-acquired pneumonia.N Engl J Med 1997;336:243-50. 4 Schouten JA, Prins JM, Bonten MJ, Degener J, Janknegt RE, Hollander JMR, et al. Revised SWAB guidelines for antimicrobial therapy of community-acquired pneumonia.Neth J Med 2005;63:323-35. 5 El Moussaoui R, Opmeer BC, Bossuyt PM, Speelman P, de Borgie CA, Prins JM. Development and v...

Megalencephalic leukoencephalopathy with subcortical cysts (MLCs) disease is a rare inherited, autosomal recessive form of childhood-onset spongiform leukodystrophy characterized by macrocephaly, deterioration of motor functions, epileptic seizures and mental decline. Brain edema, subcortical fluid cysts, myelin and astrocyte vacuolation are the histopathological hallmarks of MLC. Mutations in ...

Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia Infantile spongy degeneration of the white matter of the central nervous system is a rare disorder of unknown pathogenesis. Reported cases have generally been described under the heading of spongy degeneration of van Bogaert and Bertrand type or...

Infancy and childhood represent a time of unparalleled physical growth and cognitive development. In order for infants and children to reach their linear and neurological growth potential, they must be able to reliably and safely consume sufficient energy and nutrients. Swallowing diffiPublished online: July 24, 2015 Dr. Pamela Dodrill, PhD, CCC-SLP, B.Sp.Path. (Hons), PhD Department of Otolary...

BACKGROUND Measurements of maternal fat mass (FM) are important for studies of maternal and fetal health. Common methods of estimating FM have not been previously compared in pregnancy with measurements using more complete body composition models. OBJECTIVES The goal of this pilot study was to compare multiple methods that estimate FM, including 2-, 3- and 4-compartment models in pregnant wom...

Progressive dysmetria was observed at four months and six months of age in two female Labrador retriever littermates. Neurological examinations indicated a cerebellar disorder. Laboratory analyses were normal. The dogs were studied clinically until they were killed for necropsy at nine months and eleven months of age. Both dogs had normal brain size, shape, and calvarial symmetry; the older dog...

Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant...