ABSTRACT
Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein, we describe a patient with early-onset epilepsy who subsequently developed a progressive neurological phenotype including parkinsonism in her early teens. A de novo mutation in STXBP1 (c.416C>T, p.(Pro139Leu)) was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings implicate a secondary impairment of mitochondrial function in the progressive nature of the disease phenotype.
Subject(s)
Electron Transport Complex I/deficiency , Epilepsy/genetics , Mitochondrial Diseases/genetics , Munc18 Proteins/genetics , Mutation, Missense , Parkinsonian Disorders/genetics , Brain/physiopathology , Child , Disease Progression , Electroencephalography , Electron Transport Complex I/genetics , Epilepsy/complications , Exome , Female , Humans , Mitochondrial Diseases/complications , Parkinsonian Disorders/complications , PhenotypeABSTRACT
This study evaluated the effect of eye muscle area (EMA), ossification, carcass weight, marbling and rib fat depth on the incidence of dark cutting (pH(u)>5.7) using routinely collected Meat Standards Australia (MSA) data. Data was obtained from 204,072 carcasses at a Western Australian processor between 2002 and 2008. Binomial data of pH(u) compliance was analysed using a logit model in a Bayesian framework. Increasing eye muscle area from 40 to 80 cm², increased pH(u) compliance by around 14% (P<0.001) in carcasses less than 350 kg. As carcass weight increased from 150 kg to 220 kg, compliance increased by 13% (P<0.001) and younger cattle with lower ossification were also 7% more compliant (P<0.001). As rib fat depth increased from 0 to 20mm, pH(u) compliance increased by around 10% (P<0.001) yet marbling had no effect on dark cutting. Increasing musculature and growth combined with good nutrition will minimise dark cutting beef in Australia.
Subject(s)
Cattle/growth & development , Food Quality , Glycogen/metabolism , Meat/standards , Muscle, Skeletal/growth & development , Musculoskeletal Development , Spine/growth & development , Adiposity , Animals , Australia , Body Composition , Body Weight , Calcification, Physiologic , Dietary Fats/analysis , Female , Food Inspection/legislation & jurisprudence , Hydrogen-Ion Concentration , Legislation, Food , Male , Meat/analysis , Models, Biological , Muscle, Skeletal/metabolism , Subcutaneous Fat, Abdominal/growth & development , Western AustraliaSubject(s)
Cell Cycle Proteins/genetics , DNA, Mitochondrial/genetics , Gene Deletion , Genetic Predisposition to Disease/genetics , Mutation/genetics , Ophthalmoplegia, Chronic Progressive External/genetics , Ribonucleotide Reductases/deficiency , Ribonucleotide Reductases/genetics , Adult , Age Factors , Cohort Studies , Female , Humans , Male , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Mitochondrial Diseases/metabolism , Ophthalmoplegia, Chronic Progressive External/diagnosis , Ophthalmoplegia, Chronic Progressive External/metabolismSubject(s)
DNA, Mitochondrial/genetics , DNA, Mitochondrial/urine , Genetic Testing/methods , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Outcome Assessment, Health Care/methods , RNA Precursors/genetics , RNA, Transfer, Leu/genetics , Adult , Aged , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Mitochondrial Diseases/urine , Mutation , Prognosis , Reproducibility of Results , Sensitivity and SpecificityABSTRACT
Information on farm work-related injuries was sought to assist in the design of effective farm safety prevention programs. A telephone survey was conducted using a stratified random sample of 919 sheep/wool, beef cattle and dryland broadacre cropping farms from three shires in the wheat/sheep belt of New South Wales. The adjusted response rate was 84%. There were 425 reported injuries over an 18-month period. One in five farms reported at least one injury per year, while one in 12 farms reported at least one serious injury per year. Animal-related injuries were the largest major category for agent of injury, while the largest category for nature of injury was sprain and strain, recording almost one-quarter of all injuries. The farm workshop or shed was the most common location of injury, with more than 20% of all reported injuries occurring there. Personal risk factors thought to contribute to these farm work-related injuries were examined. The statistically significant personal risk factors for injury occurrence were age (and/or experience), previous injury status, body mass index, hours of sleep, a variable measuring daytime drowsiness and a variable measuring perceived stress.
