Search PubMed⌕ Search

Biomedical subjects

R Skinner

Publications and source records attributed to R Skinner.

103 records · Page 6Linked to original sources
PubMed1979

Genetic counselling.

Explore the source record for details and available documents.

Chromosome Aberrations↗
PubMed1976

International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data.

There is considerable variation in age of onset, though in over three-quarters of cases onset is before 4 years of age. A febrile episode, often of viral origin, may be present at the time of onset and might possibly be of aetiological significance, perhaps by precipitating the disease in a genetically predisposed individual. Reduced fetal movements and floopiness at birth are present in about one third of those cases where the onset is in early childhood. It would seem that when the onset is before 4 years of age, and particularly if the child has never been able to sit without support, the prognosis is much worse than in cases where the onset is after the age of 4 years. The proximal limb muscles are predominantly affected and muscle tone is usually reduced but pseudohypertrophy is uncommon. Rarely are the cranial nerves affected. Muscle fasiculations are present in about half the cases. Almost 10% of cases appear to be mentally retarded. With regard to the EMG findings, spontaneous activity, reduced full effort pattern increased potential amplitude and duration and increased motor unit territory appear to be the most reliable diagnostic criteria. Routine histological evidence of neurogenic atrophy seems to be a more reliable diagnostic criterion than muscle histochemistry. However, this may be only reflect the way in which the data were selected, that is, from cases where a muscle biopsy showed evidence of neurogenic atrophy on routine histology. Finally the serum level of creatine kinase is rarely very high and in more than half the cases it is normal. The CSF chemistry is always normal.

Creatine Kinase↗
PubMed1976

Clinical studies in benign (Becker type) X-linked muscular dystrophy.

Ten extensive families with benign (Becker type) X-linked muscular dystrophy have been studied, in which there was a total of 67 affected males. Reliable information was available on 41 of these males, 29 of whom were alive at the time of the study. The disorder was characterised by a predominantly proximal myopathy, associated with pseudohypertrophy of the calf muscles, particularly in the early stages of the disease. The early development of contractures was not a feature of the disease in these families and cardiac involvement, when present, was a late manifestation. The clinical findings in these patients are discussed in detail and compared with those in a large unselected group of patients with Duchenne muscular dystrophy. The results indicate that the best criterion for distinguishing between these two disorders is the age of becoming chair-bound. Electrocardiographic studies revealed no consistent abnormality and no evidence of an abnormal algebraic sum of the R and S waves in lead V1, as is found in patients with Duchenne muscular dystrophy. Serum creatine kinase levels are significantly elevated, particularly in the early stages of the disease, and in this way preclinical cases may be identified.

Adolescent↗
PubMed1975

Familial transmission of a (21q22q) translocation.

A large family is described in which a (21q22q) Robertsonian translocation is segregating through three generations. The assessment of the risk of a translocation carrier producing an offspring with Down's syndrome is calculated from the data in this family and eight others reported in the literature. The risk when the translocation carrier is a female is approximately 6 in 100, or 0.06. For the male translocation carrier the risk can only be guessed, since the patients with Down's syndrome born to these parents were probands. The risk for Down's syndrome from the combined data of male and female translocation carriers in 3 is 100, or 0.03.

Adolescent↗
PubMedDate not supplied

"Morbakka", another cubomedusan.

There is a large member of the cubomedusan family, which has not yet been formally identified, that is very similar to Tamoya haplonema. It is present in Indo-Pacific tropical waters but is also present in colder Australian waters. A case of severe envenomation in South Queensland is discussed and its clinical and histological features are described. Vinegar inactivates the undischarged nematocysts of this species and is recommended as the initial first-aid treatment.

Acetates↗