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Biomedical subjects

L M Stern

Publications and source records attributed to L M Stern.

At least 37 records · Page 2Linked to original sources

Investigation of scoliosis in Duchenne dystrophy using computerized tomography.

In order to determine the role of the spinal muscles in the etiology of the scoliosis associated with Duchenne muscular dystrophy, we carried out a study of 16 children using computerized tomography. Scans were taken at the level of the 9th dorsal and the 3rd lumbar vertebrae. Density readings were taken in the medial and lateral portions of the erector spinae. The results confirmed the loss of muscle and replacement by fat which was greater on the concave side. The density differences between the convex and concave sides correlated with the degree of curvature measured by Cobb's method. Computed tomography may offer a prognostic indicator in the development of scoliosis.

Adolescent↗

Event-related potentials in autistic and healthy children on an auditory choice reaction time task.

Event-related potentials (ERPs) were recorded from midline (Fz, Cz, Pz) and lateral sites (F3, F4, P3, P4) in autistic children (n = 7) and age-matched controls (n = 9) on an auditory choice reaction time task. Subjects were asked to press a button to an infrequent target (500 Hz, P = 0.14) and to ignore higher pitched infrequent (2000 Hz, P = 0.14) and frequent (1000 Hz) non-targets. Autistic subjects made twice as many errors of omission as controls and showed a higher criterion (beta) for targets. Maximum ERP peak amplitudes showed a more varied scalp distribution in the autistic group. N1 latencies were consistently shorter in the autistic group and in 3 subjects the target P3 latencies were markedly longer than for the controls. Compared to controls, the N1 amplitude of the autistic response was larger to the rare stimuli (particularly to non-targets). The amplitude of the P3 component was smaller in the autistic group (particularly to the target). The stimuli were also presented in a passive condition requiring no response. After subtraction of the waveform obtained in the passive condition from that obtained in the active condition or subtraction of the waveform elicited by the rare non-target from that elicited by the target, N1 target amplitude was larger in control than in autistic children. Autistic subjects showed more early negativity to the rare non-target at left frontal and a larger P3 to the target at right parietal sites. ERPs of autistic children are more responsive to stimulus features (e.g. high/rare non-target tone) and less responsive to their associations or meaningfulness (e.g. target P3). Attention-related ERPs of autistic children show signs of precocious (right dominance for P3) and delayed development (P3 not maximal at parietal sites).

Adolescent↗

Blood serotonin levels in adults, autistic and non-autistic children--with a comparison of different methodologies.

Recent interest in conditions associated with increased blood serotonin level has highlighted the need for consistency between assay methods to allow for more accurate delineation of serotonin variables. To this end, comparison was made between a spectrofluorimetric technique frequently used in the past and two potentially more specific high performance liquid chromatographic procedures. Normal ranges and diurnal variations for blood serotonin in adults, normal, autistic children and children with developmental dysphasia were also determined. No significant difference was found between serotonin level in blood drawn by simultaneous venepuncture and capillary (fingerprick) collection. Whilst there was no evidence of circadian rhythm, seasonal variation with mean blood serotonin levels significantly lower in summer than in two successive winters was suggested. Blood serotonin values in normal children tended to decline with increasing age. No similar maturational effect was apparent in autistic children. The mean level for autistic children in winter was significantly higher than that for normal children in the same season; despite this there was considerable overlap of blood serotonin levels between normal and autistic groups. Serotonin levels determined by the three different methodologies showed a high correlation but differed significantly: caution should be exercised when comparing blood serotonin results where different methods are employed.

Adolescent↗

The disabled adolescent guidance unit.

The disabled adolescent guidance unit is a panel which comprises representatives of various health professions, sheltered employment workshops and government instrumentalities associated with employment, social security and education. The aim of the panel is to advise disabled school leavers on the various options available to them. This includes recommendations on employment, leisure activities, and, when, necessary, on housing. In the years 1978 to 1984, 114 young people were seen. Average age at referral was 17 years. 66% of the disabilities were caused by neurological problems, including cerebral palsy, epilepsy, and spina bifida. Trauma accounted for 10%. A simple questionnaire was used to evaluate the usefulness of the panel. 58 of the 114 clients replied, 78% of the clients had followed the panel's recommendations, the work situation of the clients was as follows: 7% in open employment, 21% in sheltered employment, 22% undertaking further education, 10% doing voluntary work and 38% unemployed.

Adolescent↗

Carrier detection in Duchenne muscular dystrophy using computed tomography.

In Duchenne dystrophy computed tomography of muscles shows total or partial replacement of normal muscle by low density tissue, presumably representing fat. It was hypothesised that female carriers would have increased fat deposition, and hence lower density readings in certain muscle groups when compared with controls. Three C.T. scans, two through the thigh and one through the calf, were obtained on 9 obligate carriers, 12 "possible" carriers, and 10 controls. A total of 15 density readings in different muscle groups were obtained for each subject. The results, analysing the mean densities in Hounsfield units, show that the obligate carriers have statistically significant lower density readings than controls. The 9 obligate carriers and 10 controls were correctly allocated using discriminant function analysis of muscle density readings. An attempt to assign the "possible" carriers was made. The use of C.T. scanning in addition to creatine kinase (C. K.) estimations will significantly improve accuracy of genetic counselling and has the advantage of being non-invasive.

Child↗

A case of ring 20 chromosome with cardiac and renal anomalies.

A case of ring 20 chromosome is reported. In contrast to the few children documented previously with this problem who had no significant malformations the present case had major malformations of the heart and urinary tract as well as mental retardation and seizures.

Child, Preschool↗

Progression of muscular dystrophy assessed by computed tomography.

To determine whether computerised tomography (CT) offers an accurate means of following the progression of Duchenne muscular dystrophy, CT scans through the thigh and calf were done on two occasions, six months apart, for 13 boys with the disease. The results suggest that CT scans of muscles may be used as an adjunct to other methods in the accurate assessment of progression.

Child↗

The progression of Duchenne muscular dystrophy: clinical trial of allopurinol therapy.

A 12-month clinical study of Duchenne muscular dystrophy was carried out during a double-blind trial of allopurinol therapy. The disease was monitored by assessment of muscle power and function, pulmonary function tests, and electrocardiography. Biochemical assessments were made of plasma creatine kinase, pyruvate kinase, uric acid, and urinary excretion of 3-methylhistidine and creatinine. Allopurinol did not alter the progression of the disease.

Adolescent↗

Increased turnover of muscle contractile proteins in Duchenne muscular dystrophy as assessed by 3-methylhistidine and creatinine excretion.

1. Myofibrillar protein degradation has been measured in patients with Duchenne muscular dystrophy, normal boys, adult males and Duchenne carriers by the rate of 3-methylhistidine excretion after transfer of subjects to a meat-free diet. 2. Although absolute rates of protein breakdown are lower in Duchenne patients, expression of the data to allow for differences in muscle mass gives fractional degradation rates 2--3 times higher than in age-matched controls. 3. Fractional rates of muscle protein synthesis are increased in the Duchenne patients to almost the same extent as protein breakdown. 4. Rates of muscle protein breakdown in obligate and presumed carriers of the Duchenne gene are not different from controls.

Adolescent↗

Ankyloblepharon filiforme adnatum.

Two cases of ankyloblepharon filiforme adnatum in siblings are presented. One sib had associated cleft lip and palate, the other had bilateral syndactyly of the second and third toes. Father, paternal grandmother, and great-grandmother all had bilateral syndactyly of the second and third toes. Cases of ankyloblepharon filiforme adnatum reported in the ophthalmic literature are reviewed as are cases of ankyloblepharon occurring as part of the popliteal pterygium syndrome. It is postulated that the association of ankyloblepharon with other abnormalities may be part of the spectrum of the popliteal pterygium syndrome with autosomal dominant inheritance, incomplete penetrance, and variable expressivity.

Abnormalities, Multiple↗

Plasma phenytoin levels produced by various phenytoin preparations.

A cross-over study was conducted to compare the plasma phenytoin levels produced by different phenytoin preparations available in Australia. The preparations were found not to be equivalent, a liquid suspension product producing higher levels compared with capsule and tablet formulations. The clinical significance and possible explantation are discussed.

Adolescent↗