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Biomedical subjects

K J Felice

Publications and source records attributed to K J Felice.

At least 37 records · Page 2Linked to original sources
PubMed1997

A longitudinal study comparing thenar motor unit number estimates to other quantitative tests in patients with amyotrophic lateral sclerosis.

The following data were obtained on 21 amyotrophic lateral sclerosis (ALS) patients, aged 36-76 years (mean: 58 years), at baseline and months 4, 8, and 12: thenar motor unit number estimate (MUNE) using multiple point stimulation, mean thenar surface-recorded motor unit action potential negative-peak area, thenar compound muscle action potential amplitude, isometric hand grip strength, total Medical Research Council (MRC) manual muscle testing score, Appel ALS rating scale, and forced vital capacity (FVC). The absolute mean rate of change per month was significantly greater (P < 0.01) for MUNE values than for MRC and FVC values in the 21 ALS patients. In a subset of patients (n = 6) with slowly progressive disease, the absolute mean rate of change per month was significantly greater (P < 0.01) for MUNE values than for all other test values. In addition, MUNE values were the most sensitive index for documenting changes in disease progression over time.

Adult↗
PubMed1997

Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome.

The centronuclear myopathies are a clinically and genetically heterogeneous group of disorders which share similar histological features on muscle biopsy. The familial cases have been classified genetically as X-linked or autosomal in inheritance. The autosomal forms usually have a later onset and milder course as compared to the X-linked form. Thirteen families with autosomal dominant centronuclear myopathy have been previously described. We describe an additional family with unique clinical features which initially suggested a facioscapulohumeral syndrome.

Adult↗
PubMed1997

Childhood-onset spinocerebellar syndrome associated with massive polyglucosan body deposition.

INTRODUCTION: Polyglucosan body disease (PBD) is a progressive neurological disorder beginning in adult life and associated pathologically with widespread accumulation of polyglucosan bodies (PB) in neuronal and astrocytic processes. We report the unique clinicopathological findings in an early onset spinocerebellar syndrome associated with massive PB deposition. PATIENT & METHODS: A 14-month-old male developed a slowly progressive neurological disorder characterized by distally predominant weakness and sensory loss, urinary bladder incontinence, and cerebellar signs. He died at age 62 years from pneumonia. We report the clinical and autopsy findings. RESULTS: The autopsy findings were remarkable for diffuse cortical and cerebellar atrophy, diffuse neuronal loss and gliosis, and massive accumulations of PB within neuronal and astrocytic processes. CONCLUSION: PBD may begin in childhood.

Age of Onset↗
PubMed1997

Effect of recombinant human insulin-like growth factor-I on progression of ALS. A placebo-controlled study. The North America ALS/IGF-I Study Group.

The objective of this study was to investigate the safety and efficacy of recombinant human insulinlike growth factor-I (rhIGF-I) in the treatment of sporadic ALS. A double-blind, placebo-controlled, randomized study of 266 patients was conducted at eight centers in North America. Placebo or rhIGF-I (0.05 mg/kg/day or 0.10 mg/kg/day) was administered for 9 months. The primary outcome measure was disease symptom progression, assessed by the rate of change (per patient slope) in the Appel ALS rating scale total score. The Sickness Impact Profile (SIP), a patient-perceived, health-related quality of life assessment, was a secondary outcome variable. Progression of functional impairment in patients receiving high-dose (0.10 mg/kg/day) rhIGF-I was 26% slower than in patients receiving placebo (p = 0.01). The high-dose treatment group was less likely to terminate the study due to protocol-defined markers of disease symptom progression, and members in this group exhibited a slower decline in quality of life, as assessed by the SIP. Patients receiving 0.05 mg/kg/day of rhIGF-I exhibited trends similar to those associated with high-dose treatment, suggesting a dose-dependent response. The incidence of clinically significant adverse experiences was comparable among the three treatment groups. Recombinant human insulin-like growth factor-I slowed the progression of functional impairment and the decline in health-related quality of life in patients with ALS with no medically important adverse effects.

Amyotrophic Lateral Sclerosis↗
PubMed1996

Pediatric ulnar mononeuropathy: report of 21 electromyography-documented cases and review of the literature.

Pediatric ulnar mononeuropathies are the most frequent upper extremity mononeuropathies seen in the electromyography laboratory at The Children's Hospital, Boston. Twenty-one children (12 boys and nine girls) with pediatric ulnar mononeuropathy, aged 5 to 18 years, were seen from 1979 to 1991. The causes included acute trauma in 11 children (52%), compression in five children (24%), entrapment in three children (14%), and indeterminate in two children (10%). The sites of nerve injury included the elbow in 10 children (48%), forearm in three children (14%), wrist in five children (24%), hand in one child (4%), and indeterminate in the remaining two children (10%). Prognosis is more favorable in nontraumatic (83% improved) pediatric ulnar neuropathies than with traumatic lesions (56% improved), with at least a 1-year follow-up.

Adolescent↗
PubMed1996

Selective atrophy of type 1 muscle fibers in McArdle's disease.

McArdle's disease is a metabolic myopathy of glycogen utilization caused by an absence or deficiency of myophosphorylase. The muscle biopsy features include increased deposition of subsarcolemmal glycogen and absent phosphorylase histochemical staining of myofibers. We report the clinical and unique pathologic findings in three cases of McArdle's disease with prominent type 1 fiber atrophy.

Adolescent↗
PubMed1995

Thenar motor unit number estimates using the multiple point stimulation technique: reproducibility studies in ALS patients and normal subjects.

Thenar motor unit number estimate (MUNE) reproducibility was assessed in 20 patients with amyotrophic lateral sclerosis (ALS) and 16 normal subjects using the multiple point stimulation (MPS) technique. The MUNE was calculated by dividing the thenar compound muscle action potential negative-peak (n-p) area by the mean n-p area of 10 lowest threshold, all-or-nothing, surface-recorded motor unit action potentials. Two trials (test-retest) were performed by the same examiner either on separate days or on the same day with new electrode placements. The mean test MUNE was 43.4 (SD: 35.9, range: 6-145) for ALS patients and 219.4 (SD: 80.8, range: 122-368) for normal subjects. Test-retest MUNE differences were not significant for ALS patients or normal subjects. The test-retest correlation coefficient (r) was 0.99 for ALS patients and 0.85 for normal subjects. The mean difference between test-retest values was 10% for ALS patients and 17% for normal subjects. Test-retest reproducibility of the thenar MUNE using the MPS technique is high in both ALS patients and normal subjects. The reliability of the MPS technique in estimating motor unit numbers may make it a useful outcome measure in following the course of patients with progressive lower motor neuron disease, especially those enrolled in experimental drug trials.

Action Potentials↗
PubMed1995

Methods for estimating the numbers of motor units in human muscles.

After the introduction by A. J. McComas of the original method for estimating the number of motor units based on manual incremental stimulation of a motor nerve, several new techniques have been developed, designed to correct for some of the errors inherent in the original technique. These methods incorporate algorithms to adjust for alternation and, to a greater or lesser extent, automate the methods, rendering the techniques less subject to operator bias and various physiological and technical errors. This review explores the advantages and drawbacks in the multiple-point stimulation (MPS), spike-triggered averaging (STA), and decomposition-enhanced STA techniques, illustrates some of the current applications of the techniques, and explores some tantalizing prospects for new studies of motor-unit physiology in the future.

Algorithms↗
PubMed1995

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature.

Acid maltase deficiency (AMD) is a rare cause of muscle disease in adult patients. The present report of 2 sibs and review of 36 previously reported cases illustrates the vast clinical variability in adult-onset AMD. This is 1 of only 3 reports to document tongue weakness and enlargement in an adult with AMD. The presenting signs and symptoms usually include progressive limb weakness, restrictive lung disease, or both. Consistent supportive abnormalities include a modest elevation in serum CK, a reduction in the forced vital capacity, and abnormal spontaneous activity (that is, myotonic discharges or fibrillations) in resting muscles during needle electromyography. The clinical spectrum is also extended to include distal limb weakness, scapular winging, asymmetric muscle weakness, and tongue involvement.

Female↗
PubMed1994

Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy.

Hereditary neuropathy with liability to pressure palsies (HNLPP) is a peripheral nerve disorder in which recurrent pressure palsies are associated with pathological swelling ('tomacula') of myelinated nerve internodes. We report a patient with a slowly progressive polyneuropathy associated with substantial slowing of conduction velocities initially suggestive of an acquired or hereditary demyelinating polyneuropathy. However, repeat electrodiagnostic studies demonstrated that conduction slowing and partial conduction block were localized primarily to common sites of nerve compression and entrapment. Sural nerve biopsy revealed multiple tomacula consistent with the diagnosis of HNLPP.

Diagnosis, Differential↗
PubMed1993

Pediatric peroneal mononeuropathy: a clinical and electromyographic study.

Seventeen children with pediatric peroneal mononeuropathies evaluated between 1979 and 1991 are reported. Twelve boys and 5 girls, ranging in age from 1.5 months to 17 years, were referred for footdrop in 16 children (94%) or for lower extremity pain in 1 child (6%). Causes included compression in 10 children (59%), trauma in 3 children (18%), entrapment in 3 children (18%), and indeterminate in 1 child (5%). Based on nerve conduction studies and electromyography, the level of the pediatric peroneal mononeuropathic lesion was the common peroneal nerve in 10 children (59%), the deep peroneal nerve in 2 children (12%), and the superficial peroneal nerve in 1 child (5%). In 4 other children (24%), pediatric peroneal mononeuropathy at the knee was not more precisely identified. Surgical exploration in 3 children with progressive pediatric peroneal mononeuropathy was valuable. Improvement occurred in 13 of 17 children (76%).

Action Potentials↗