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Biomedical subjects

L S Russo

Publications and source records attributed to L S Russo.

At least 19 recordsLinked to original sources
PubMed1994

Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family.

Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions--one in the 5', proximal deletional hotspot region, and the other in the 3', more distal deletional hotspot region. The second propositus showed only the 5' deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, we show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier's dystrophin genes, giving rise to a son with a partially "repaired" gene retaining only the 5' deletion.

Adolescent↗
PubMed1992

Aluminium intoxication in undialysed adults with chronic renal failure.

The dialysis encephalopathy syndrome (DES) consists of altered mental status, communication difficulty, seizures and myoclonus. It has been attributed to elevated serum aluminium (A1) levels. Two undialysed patients with chronic renal failure who presented with the characteristic syndrome are reported. The first, a 48 year old female, had used A1 containing phosphate binders for two years. Her serum A1 level was 25.34 mumol/L. Despite treatment with desferoximine and dialysis, she died. Necropsy revealed elevated A1 levels in the cerebral cortex (19 mcg/gm) and spongioform change in the outer three cortical layers. The second patient, a 46 year old woman, had a serum A1 of 8.70 mumol/L. She had never taken A1 containing phosphate binders but had taken several grams/day of citrate for at least six months. Treatment with haemodialysis and discontinuation of the citrate produced a resolution of symptoms and return of the A1 level to normal. During two years of haemodialysis there has been no recurrence.

Aluminum↗
PubMed1992

Familial inclusion body myositis: evidence for autosomal dominant inheritance.

We report a kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.

Adult↗
PubMed1991

Lacunar infarction as an embolic complication of cardiac and arch angiography.

BACKGROUND: Lacunar infarcts are small, deep cerebral infarcts resulting from occlusion of small, penetrating cerebral arteries. They are most commonly associated with hypertension. Cardiac sources of embolization are sometimes present in patients with lacunes, but direct proof of a causal relationship is lacking. This report attempts to support the contention that emboli can cause lacunar syndromes and lacunar infarction. CASE DESCRIPTIONS: We report two cases of pure motor hemiplegia, each of which developed while the patient was undergoing cardiac or aortic arch angiography. Neither patient had a history of previous transient ischemic attack or stroke. Initial computed tomography of the brain was normal in each. Repeat computed tomography in one confirmed a small, low-density lesion in the posterior limb of the internal capsule on the side appropriate to the patient's symptoms and remained normal in the second patient. CONCLUSIONS: These two cases offer evidence that the classic lacunar stroke syndrome of pure motor hemiplegia can occur on an embolic basis.

Aorta, Thoracic↗
PubMed1991

Altered motor neuron excitability in myotonic dystrophy.

Using standard electrophysiologic techniques motor conduction velocity (MCV), motor action potential amplitude (Mmax), minimum F latency (Flat), maximum F amplitude (Fmax), F chronodispersion (Fdisp), Fmax/Mmax, and F persistence (Fpers) were measured in median, ulnar, peroneal, and tibial nerves (N = 60) in 15 patients with myotonic muscular dystrophy (DM). The results were compared to data from 80 nerves in 20 healthy controls. The DM group (mean age = 39.7 yrs, mean duration of symptoms = 20.8 yrs) had diminished or absent biceps, triceps, knee, and ankle reflexes but retained 4- or better strength (modified MRC Scale) in the respective muscles. Thirteen nerves in 6 patients had absent F waves. For the remaining 47 nerves, no statistically significant difference was noted in parameters primarily related to conduction through peripheral nerve fibers (MVC, Flat, Fdisp) or Fmax/Mmax. Fmax, Fpers and Mmax were significant (p less than or equal to .02) diminished in all nerve subgroups in the DM patients. The results indicate that in DM there is altered excitability of the motorneuron pool. This may underlie the early loss of DTR's and produce the characteristic distal pattern weakness.

Action Potentials↗
PubMed1986

High-yield criteria for urgent cranial computed tomography scans.

We conducted a study to establish high-yield criteria for urgent cranial computed tomography (CT) scanning in both medical and surgical conditions. Patients were scanned on an emergency basis and were entered in the study if they met preestablished criteria. The clinical findings of the 407 patients in this study were correlated with CT findings. The majority were scanned on an emergency basis for the following reasons: trauma, seizures, altered mental status, hemiparesis, headache, and coma. The yield for CT scans that altered patient management was moderate to high for each of the following categories: coma, 46%; trauma, 30%; seizures, 23%; hemiparesis, 22%; and headache, 21%. The yield for altered mental status and reasons outside the established criteria were fairly low, 8% and 7%, respectively. The specific clinical correlation with CT results in each category is discussed.

Brain Diseases↗
PubMed1983

The diagnostic assessment of single seizures. Is cranial computed tomography necessary?

To determine the usefulness of cranial computed tomography (CCT) in adults with a single seizure, we prospectively examined 62 such patients who were initially seen within 24 hours of the event. Age range was 16 to 86 years. Seizure was partial in ten patients and generalized in 52. Neurologic examination results were abnormal in 28 and normal in 34. Laboratory studies, including EEG and CCT, were completed within the subsequent 24 hours. In 29 patients, CCT was abnormal. Only nine of them had normal neurologic examination results, and only four also had a normal EEG. In these, generalized atrophy was the only CCT abnormality. None of the nine occurred in patients aged 16 to 30 years. We concluded that CCT is not essential for patients aged 16 to 30 years who have normal examination results. In patients aged 31 years or older with normal examination results and normal EEG, CCT may be abnormal but is unlikely to provide essential information. Irrespective of age or seizure type, CCT is useful and essential in patients with abnormal neurologic examination results.

Adolescent↗
PubMed1982

Clinical and electrophysiological studies in primary lateral sclerosis.

Primary lateral sclerosis denotes a clinical state with the insidious onset and slow progression of neurological dysfunction limited to the corticospinal tract. We describe four unrelated patients with spastic paraparesis and normal sensory and cerebellar function. None had a family history of neurological disease. All had been symptomatic for more than five years and had been followed up for 25 to 42 months manifesting signs of involvement of other systems. Laboratory and roentgenographic evaluations demonstrated no contributory abnormality. Motor and sensory nerve conduction studies and electromyography disclosed no abnormality. These negative findings support the position that primary lateral sclerosis is a distinct neurological entity.

Aged↗
PubMed1982

Improvement of diabetic peripheral neuropathy with the portable insulin infusion pump.

A 16-year-old girl with insulin dependent (Type I) diabetes since age 9 and painful sensory neuropathy for two months was treated with a portable insulin infusion pump, allowing strict control of hyperglycemia. Within 28 days the distal motor latency in all nerves tested had improved and painful incapacitating dysesthesias disappeared. The findings suggest that strict control of hyperglycemia with a portable insulin infusion pump can successfully reverse the changes of recent onset diabetic neuropathy.

Adolescent↗
PubMed1981

Valproate-induced stomatitis.

Two patients treated with valproic acid developed stomatitis, which was not dose-related and cleared promptly after the drug was stopped. One patient was rechallenged, and the stomatitis recurred.

Adult↗
PubMed1980

Multicentric glioma or metastatic disease: a problem in diagnosis.

The case of a 56-year-old woman with a breast mass and two separate, intracerebral lesions demonstrated by computerized axial tomography of the brain is reported. Evaluation revealed no primary neoplasm, and a diagnosis of multicentric glioma was made and confirmed by postmortem examination. This entity, known to neurospecialists, has had no previous exposure in the literature dealing with general medicine. This patient demonstrates a possible diagnostic pitfall which may arise in this age of readily available computerized axial tomography.

Brain Neoplasms↗
PubMed1976

Alexander's disease: a report and reappraisal.

A boy with juvenile onset of symptoms of Alexander's disease had a clinical picture of pseudobulbar palsy, ataxia, and spastic paraparesis. Pathologic examination of the central nervous system revealed the diffuse presence of Rosenthal fibers and patchy demyelination. This may be the first report of a case with significant neuronal changes and inflammation within the brain stem in this disease. The clinical picture of this entity is varied and age-dependent. Alexander's disease may be a motor system specific entity secondary to astrocytic dysfunction.

Astrocytes↗