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Biomedical subjects

B S Russman

Publications and source records attributed to B S Russman.

At least 19 recordsLinked to original sources
PubMed1992

Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema.

We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by function at the time of initial evaluation. The muscle strength of 96 patients aged 5 years or older was evaluated at 6-month intervals using a fixed myometry system. The new observations made are: (1) The present classification schema is not valid; for example, 49 patients with onset of weakness before 6 months of age (type I or Werdnig-Hoffmann disease), whose life span is said to be only 2 to 4 years, participated in the study and are 4 months to 31 years of age. (2) Thirty-seven patients were evaluated over an 18-month period. None lost strength during this time but four lost function. Although the period of observation was short, the results suggest that the loss of function in patients with spinal muscular atrophy might be explained by a process other than cell death that allows patient strength to be maintained and simultaneously prevents the motor unit from achieving its normal adult potential.

Adolescent↗
PubMed1991

Juvenile Leigh's encephalomyelopathy with peripheral neuropathy, myopathy, and cardiomyopathy.

A child with typical histopathologic changes of Leigh's subacute necrotizing encephalomyelopathy presented with a chronic demyelinating neuropathy. During her 11-year course, she developed an unusual myopathy and cardiomyopathy in addition to many of the previously described manifestations of Leigh's disease. Despite an extensive evaluation, the biochemical basis of her condition was never identified. This case demonstrates another unique constellation of clinical alterations associated with subacute necrotizing encephalomyelopathy, and that chronic demyelinating neuropathy can be an important initial presentation of the disease.

Biopsy↗
PubMed1991

Muscle biopsy and the clinical course of infantile spinal muscular atrophy.

Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.

Basement Membrane↗
PubMed1990

Rehabilitation of the pediatric patient with a neuromuscular disease.

A rehabilitation program for a patient with a neuromuscular disease can be developed only after an accurate diagnosis has been established. The diagnosis and its ramifications should suggest a natural course of disease which, it is hoped, can be improved upon with a rational and realistic program. The program is best developed by an interdisciplinary team, including a pediatric neurologist, who should have the greatest understanding of the patient's problem and should ultimately be responsible for the implementation and monitoring of the program. A child with cerebral palsy commonly requires the services of physical and occupational therapists as well as knowledgeable orthopedists. Is the program appropriate? Does it consider the child's potential as well as his limitations? A child with a traumatic brain injury requires, in addition to the above, psychological intervention and an intensive educational program. Will the child and family need help from mental health professionals? A child with a motor unit disease such as Duchenne's muscular dystrophy requires, in addition to the above services, a "philosophy" of care. Will the child ever ambulate independently? If so, at what cost? What will be necessary for the child to reach this potential, including items such as orthoses and adaptive equipment? Will respirator care become necessary? What issues must be addressed for this form of care to be established? There is no one program for all children. The programs must be individualized to meet the needs of the patient and the family. This point cannot be overemphasized.

Brain Damage, Chronic↗
PubMed1979

Use of the ECG in the diagnosis of childhood spinal muscular atrophy.

The appearance of tremors in patients with childhood, chronic spinal muscular atrophy has been known for years. We were struck by the presence of a "muscle tremor" artifact in the ECGs of all our patients with this diagnosis. This observation has not been noted previously. The consistency of this finding in patients with this disease is the basis for this report.

Adolescent↗
PubMed1979

Bedside evaluation of large motor units in childhood spinal muscular atrophy.

One hundred patients with motor unit disease were examined to determine the diagnostc reliability of several clinical signs of large motor units. These signs were high-intensity, low-pitched rumbling on skeletal muscle auscultation, voluntary contraction fasciculations, contraction fasciculation trembling, and palpable contraction fasciculations. Among 22 cases of spinal muscular atrophy, contration fasciculation trembling was noted in 86 percent, abnormal muscle auscultation in 68 percent, palpable contraction fasciculations in 64 percent, and voluntary contraction fasciculations in 50 percent.

Adolescent↗
PubMed1976

Convulsive seizures in infancy and childhood.

Epilepsy is a symptom and not a disease. An etiologic and therapeutic approach to the acutely convulsing child has been outlined. The necessity of attempting to determine the cause while in the process of stopping the seizure has been emphasized. Suggestions as to what to evaluate on physical examination and what laboratory tests to order have been discussed. An approach to the child whose seizure was not witnessed by a physician is also presented. Emphasis is placed on obtaining an accurate history. Finally, the treatment of a child with epilepsy involves more than prescribing appropriate medication. The child's performance in school and the concerns of parents and patient must be considered.

Age Factors↗
PubMed1975

Slow tremor and macrocephaly: expanded version of the bobble-head doll syndrome.

The clinical features of three children in whom a slow tremor involving the head, trunk, or limbs was associated with macrocephaly are presented. The findings were similar but not identical to those previously reported in four children with the bobble-head doll syndrome. These seven children have many of the signs and symptoms found in patients with surgically or spontaneously arrested hydrocephalus, including motor incoordination, behavior and psychologic deviations, and endocrine dysfunction. The tremor which can be voluntarily inhibited and which disappears following shunt surgery, is unique. The theoretical basis for the tremor is briefly discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Sources of information used in diagnosing childhood learning disabilities.

One hundred nineteen questionnaires in which board certified/eligible child neurologists were asked to rank the diagnostic importance of 8 sources of information commonly used in the assessment of children with learning disabilities were analyzed by the Wilcoxon matched-pairs signed ranks test. All pairwise comparisons of the 8 sources revealed significant differences (P less than or equal to .033) except for psychologic reports (mean rank +/- 1 S.D. = 2.09 +/- 1.14) and medical histories (2.26 +/- 1.45) which were rated equal (P = .397) and, compared to the other sources, diagnostically most useful (P less than .0001). Analysis of the 6 remaining sources demonstrated the following: teachers' reports (3.39 +/- 1.35) were deemed more helpful than the mental status examination (3.92 +/- 1.61; P = .033) and questionnaires distributed to parents and teachers (5.05 +/- 2.11) were more useful than findings on the remainder of the neurologic examination (5.81 +/- 1.46; P = .012). Social service reports (6.45 +/- 1.32) took precedence over soft signs (7.12 +/- 1.05; P = .001) which were considered the least diagnostically helpful. Analysis of variance revealed that this rank order was relatively independent of the responders' age, type of practice, years elapsed since completion of training and percentage of professional time spent examining pediatric patients. Information derived from outside sources (collective mean rank +/- 1 S.D. = 4.25 +/- 0.9) contributed significantly more to the diagnosis of learning disabilities than to information elicited directly by the examining neurologists (4.77 +/- .88; P = .002).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗