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Biomedical subjects

D Gardner-Medwin

Publications and source records attributed to D Gardner-Medwin.

At least 91 records · Page 5Linked to original sources
PubMed1980

Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy.

Electrocardiographic (ECG) abnormalities characteristic of Duchenne muscular dystrophy (tall R waves in the right precordial leads and deep Q waves in the lateral chest leads) are rarely observed in carriers, but Emery (1969) found that the (R-S) amplitude sum in lead V1 was significantly greater in carriers than in age-matched controls. In a prospective single-blind study, we analyzed coded records from 11 carriers and 12 age-matched normal women for (R-S) amplitude sums and R/S ratios in leads V1 and V2. Values in carriers were significantly greater for all these characteristics, discrimination being most marked for R/S in V2 (p less than 0.01). This was confirmed in a further retrospective study, comparing records from 18 carriers with 100 normal ECGs from women of the same age range. Density functions for (R-S) in V1 and the R/S ratio in V2 derived from carrier and normal population can be incorporated into probability calculations to determine risk of carrier status.

Adult↗
PubMed1980

Rehabilitation in muscular dystrophy.

This paper reviews the types of muscular dystrophy and then their management, considering the Duchenne form in some detail and then the special problems encountered with other types.

Continuity of Patient Care↗
PubMed1979

Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity.

In 40 known carriers of the gene for Duchenne muscular dystrophy (mean age 38 years) the detection-rate with a standard assay of serum-creatine-kinase was 53%. In 52 daughters of known carriers (mean age 16 years) the detection-rate was 45% after correction of age. This implies a much higher detection-rate (about 90%) in young carriers and suggests that discrimination between carriers and noncarriers may best be achieved by testing in childhood.

Adolescent↗
PubMed1979

An evaluation of some carrier detection techniques in Duchenne muscular dystrophy.

Some recently described abnormalities in the serum and red cell membranes in Duchenne dystrophy have been examined as methods of carrier detection in a single-blind controlled study. Twelve carriers (4 definite, 3 probable and 5 possible carriers previously found to have raised creatine kinase levels) and 12 normal female controls of the same age, were examined on 3 separate occasions at approximately two-weekly intervals. Analysis of age-dependent red cell shape changes, serum haemopexin levels, red cell K+ efflux rate, sensitivity of red cell ghost membrane ATPase to ouabain, membrane protein phosphorylation studies and lactate dehydrogenase isoenzyme profiles on agarose gel electrohoresis all failed to distinquish carriers from controls. The carriers suffered muscle cramps more frequently than the controls and all but one carrier and two control subjects were correctly identified by manual muscle strength testing, certain proximal muscles in paricular being consistently weaker in carriers than in the control group subjects. Scalar electrocardiography revealed higher values for the R/S ratio in Leads V1 and V2 and the sum (R-S) in V2.

Adenosine Triphosphatases↗
PubMed1978

CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy).

Four cases of Leigh's disease (subacute necrotizing encephalomyelopathy), two confirmed at postmortem examination, have been investigated recently by CT scanning. All four showed the same symmetrical areas of low attenuation in the basal ganglia, especially the putamina. These areas corresponded with the typical areas of necrosis seen in this disease. There was also some evidence of atrophic change in the posterior fossa in some cases. This CT scan appearance may be diagnostic in the appropriate clinical context.

Brain↗
PubMed1978

A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients.

A genetic study of the subacute spinal muscular atrophies (SMA) of late infancy and early childhood has been undertaken. All such patients with chronic disease (with ages at onset up to 14 years, and excluding SMA Type I) known to 2 large Neurological Centres were reassessed clinically and genetically. There were 124 index patients (67 females and 57 males) and 17 secondary cases, which formed two consecutive unselected series. To investigate the genetic composition of this group, 4 nosological approaches were used; cluster analysis of clinical features of the disease, Haldane's sib-sib analysis on familial cases, interpretation of frequency distribution histograms, and a segregation analysis. A single autosomal recessive gene accounts for over 90% of cases, causes a clinical syndrome which manifests its first clinical signs before 5 years of age and in almost all cases before two years of age, but which is compatible with life into the third decade. Moderate intrafamilial discordance for some clinical features may be observed, but no genetic heterogeneity within this group was demonstrated. A small group of cases is caused by (a) new dominant mutation(s), or (b) is composed of phenocopies, or both. This relatively uncommon form may comprise the majority of late-presenting cases, and may account for all cases which manifest the first signs after 5 years of age. The spectrum of age-at-onset of this group cannot be determined at present, but the disease may be manifest before the age of two years; it is clinically indistinguishable from SMA caused by an autosomal recessive gene. The literature has been reviewed in the light of these findings. Empirical risks for use in genetic counselling are presented.

Child, Preschool↗
PubMed1978

A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases.

The case histories and clinical details of 141 children (67 males and 74 females) with chronic childhood spinal muscular atrophy (SMA) have been reviewed. Hundred of these children were alive at the time of the study. The cases comprise a consecutive unselected series of all with this disease who presented to two large English neurological centres over a 10-year tracing period. Chronic childhood SMA is defined here as a progressive disease of anterior horn cells with initial proximal selectivity, which does not of itself cause death before 18 months of age. Clinical signs are first manifest between birth and 8 years of age, but in 95% before 3 years. Cumulative frequency tables for motor skills are presented; 46% of children never walked, even with orthopaedic aids; 37.6% were able to walk unaided at some stage. No child was able to run after 12 years of age. Late-presenting sporadic cases retain motor skills longer than do familial cases. A sex influence on the clinical course of the disease has been demonstrated, males being more severely affected. Cumulative frequency curves for age-at-onset and age-at-presentation have been compiled. A sib of an affected index case, still clinically normal at 2 years of age, has passed 90 percent of his risk period; the use of such cumulative frequency curves for studies of carrier-frequency and incidence is discussed. The median age at death for this disease exceeds 10 years. The range encompassed by the clinical spectrum is discussed.

Adolescent↗