Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial, auditory and skeletal manifestations. It is genetically and phenotypically heterogeneous with the majority of families having mutations in the gene encoding type II collagen (COL2A1) and exhibiting a characteristic 'membranous' or type 1 vitreous phenotype. More recently a novel mutation in the gene encoding the alpha1 chain of type XI collagen (COL11A1) was reported in a Stickler syndrome pedigree with a different 'beaded' or type 2 vitreous phenotype. In the present study five more families with the type 2 vitreous phenotype were examined for linkage to four candidate genes: COL2A1, COL5A2, COL11A1 and COL11A2. Two families were linked to COL11A1 and sequencing identified mutations resulting in shortened alphal(XI) collagen chains, one via exon skipping and the other via a multiexon deletion. One of the families showed weak linkage to COL5A2 but sequencing the open reading frame failed to identify a mutation. In the remaining two families all four loci were excluded by linkage analysis. These data confirm that mutations in COL11A1 cause Stickler syndrome with the type2 vitreous phenotype and also reveal further locus heterogeneity.

Abnormalities, Multiple↗

PubMedDate not supplied

Analysis of randomly amplified polymorphic DNA (RAPD) for identifying genetic markers associated with canine hip dysplasia.

Canine hip dysplasia is a heritable developmental disease resulting, in part, from increased laxity in hip joints and is a precursor to degenerative joint disease. Identification of genetic markers linked to joint laxity would foster development of more accurate diagnostic methods, facilitate identification of the disease gene(s), and supplement efforts to establish physical/genetic maps of the canine genome. Work presented here describes analysis of randomly amplified polymorphic DNA in the search for markers which cosegregate with increased joint laxity in Canis familiaris, the domestic dog. The Boykin spaniel, a highly inbred breed afflicted with an extremely high incidence of hip dysplasia, served as a model for study of canine hip dysplasia. Only 5% of 200 random primers revealed significant polymorphisms within this breed. However polymorphisms were detected in seemingly nonpolymorphic amplification products when digested with restriction enzymes. Restriction digestion revealed polymorphisms in 15% of the monomorphic amplification products. Among the primers that revealed polymorphisms, one primer correctly identified 9 of 12 dogs with regard to joint laxity. However, extensive evaluation is required before any assertion can be made regarding linkage of this marker to joint laxity. Of interest, another primer amplified a genomic segment unique to the canine Y chromosome.

Animals↗

PubMedDate not supplied

Peak electromyographic activity and jaw-closing force in man.

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Adult↗

PubMedDate not supplied

Analysis of deaths due to injury in Milano: preliminary results.

We reviewed all trauma deaths occurring in the urban area of Milan during one year. Autopsy reports were cross-referenced with pre- and in-hospital records and the Injury Severity Score was calculated by a senior surgeon. Causes of deaths were defined as central nervous system injury (CNS), hemorrhage (HEM), combined central nervous system injury and hemorrhage (CNS + HEM), and burns (BURN). Places of death were considered the scene (DOS), during transportation (DOA), the emergency room (DER), and hospital. Two multidisciplinary commissions reviewed patient reports and deaths were judged non-preventable, possibly preventable or frankly preventable, using the unanimous decision rule. The TRISS method was used to calculate the probability of survival for in-hospital deaths. Overall trauma deaths were 255 with 78.04% blunt and 16.08% penetrating traumas. Burns accounted for 5.88%. CNS and CNS + HEM caused 171 (67.05%) deaths. DOS were 91, DOA 48, DER 34, and in-hospital deaths 33. Victims found dead (49 individuals) were excluded from further analysis. The commissions classified 56.31% of deaths as non-preventable, 32.03% as possibly preventable and 11.65% as frankly preventable. The Injury Severity Score decreased from DOS to in-hospital deaths (p < 0.05). The preventability rate was higher for in-hospital deaths (p < 0.05). The results of this study suggest that the development of a tiered trauma system in Milan is mandatory.

Adult↗