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Biomedical subjects

M B Bromberg

Publications and source records attributed to M B Bromberg.

At least 19 recordsLinked to original sources
PubMed2006

The ALSSQOL: balancing physical and nonphysical factors in assessing quality of life in ALS.

BACKGROUND: There is no generally accepted instrument for measuring quality of life (QOL) in patients with ALS. Current instruments are either too heavily weighted toward strength and physical function or useful for the evaluation of individuals but of less utility in assessing large samples. OBJECTIVE: To develop and evaluate the psychometric properties of an ALS-specific QOL instrument (the ALSSQOL) that would reflect overall QOL as assessed by the patient and would be valid and reliable across large samples. METHODS: The ALSSQOL is based on the McGill Quality of Life Questionnaire (MQOL), modified by changes in format and by adding questions on religiousness and spirituality, items derived from interviews with ALS patients, and items identified from open-ended questions administered during the MQOL. The psychometric properties of the ALSSQOL were assessed by a prospective multicenter study in which participants completed the ALSSQOL, other instruments measuring overall QOL, and instruments assessing religiousness, spirituality, and psychological distress. RESULTS: A 59-item ALSSQOL was developed; 342 patients evaluated its psychometric properties. Completion time averaged 15 minutes. Forty-six items loaded on six factors. The ALSSQOL demonstrated concurrent, convergent, and discriminant validity for the overall instrument and convergent validity for its subscales. Analysis of individual items permitted insight into variables of clinical importance. CONCLUSIONS: This new ALS-specific quality of life instrument is a practical tool for the assessment of overall quality of life in individuals with ALS and appears to be valid and useful across large samples. Validation studies of a shortened version are now under way.

Adjustment Disorders↗
PubMed2005

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

Mutations in the DMD gene result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Readily available clinical tests detect only deletions of one exon or greater, which are found in approximately 60% of cases. Mutational analysis of other types of DMD mutations, such as premature stop codons and small frameshifting insertions or deletions, has historically been hampered by the large size of the gene. We have recently reported a method that allows the rapid and economical sequencing of the entire coding region of the DMD gene, and that is more sensitive than methods based on single-strand conformational polymorphism (SSCP) screening or other preliminary screening steps. Here we use single condition amplification/internal primer (SCAIP) sequencing analysis, in combination with multiplex amplifiable probe hybridization (MAPH) analysis of duplications, to report the frequency of mutations in a large cohort of unselected dystrophinopathy patients from a single clinic. Our results indicate that 7% of dystrophinopathy patients do not have coding region mutations, suggesting that intronic mutations are not uncommon. The availability of rapid and thorough mutation analysis from peripheral blood samples, along with an improved estimate of the percentage of non-coding region mutations, will be of benefit for improved genetic counseling and in identification of cohorts for clinical trials.

Codon, Nonsense↗
PubMed2001

Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy.

OBJECTIVE: To determine the efficacy of IV immunoglobulin (IVIg) given patients with untreated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: A randomized, double-blind, multicenter, investigator-initiated study compared IVIg (Aventis Behring LLC, King of Prussia, PA) with placebo (5% albumin). On days 1, 2, and 21, IVIg (1 g/kg) or placebo was given. The primary outcome measure was the change in muscle strength from baseline to day 42, using the average muscle score (AMS). Secondary outcome measures included change from baseline AMS at days 10 and 21, the Hughes' functional disability scale, forced vital capacity (FVC), and nerve conduction studies (NCS) of four motor nerves (median, ulnar, peroneal, and tibial). RESULTS: The patients (n = 33) were randomized. Of these, 30 (14 women, 16 men, aged 54 +/- 20 years, range 13 to 82) received IVIg and 23 were given placebo (12 women, 11 men, aged 50 +/- 18 years, range 23 to 73). Baseline AMS values of the groups were similar (IVIg 7.06 +/- 1.31 versus placebo 7.28 +/- 1.18, p = 0.53). There were two dropouts in placebo group and one in the IVIg group. Mean AMS improved at day 42 comparing IVIg with placebo (0.63 versus -0.1, p = 0.006). Improved strength was seen by day 10. The placebo group lost strength over this same interval. In the IVIg, 11 subjects improved by the functional disability scale; none worsened. This differed (p = 0.019) from those in the placebo-treated group (two improved, two got worse, remainder unchanged). Forced vital capacity did not improve with IVIg treatment. IVIg improved ulnar motor distal latency (p = 0.005), tibial distal compound muscle amplitude (p = 0.003), and peroneal nerve conduction velocity (p = 0.03). CONCLUSIONS: IVIg improves strength in patients with untreated CIDP by day 10 with continued benefit through day 42; more than one third improve by at least a functional grade on a disability scale. This study provides data supporting IVIg as the initial treatment for CIDP.

Adolescent↗
PubMed2001

Electrophysiologic endpoint measures in a multicenter ALS drug trial.

We report the analysis of a battery of secondary electrophysiologic measurements to assess the progression of amyotrophic lateral sclerosis (ALS) in a two center, six month, double-blind, three arm trial comparing branched chain amino acids to L-threonine with pyridoxal 5-phosphate to placebo. The endpoint measurements were chosen to separately assess the effects of lower motor neuron loss and collateral reinnervation. For tests of inter-center reliability, we found no differences that could not be readily explained by variations in electrophysiologic testing techniques. Since the drug study was negative for the primary endpoint measure (muscle strength), we combined data from both centers and the three treatment arms. For measures of progression, all measures changed in the expected direction during the 6 months of the trial. We conclude that a battery of electrophysiologic measures can be used in a multicenter ALS drug trial to provide information on changes in lower motor neuron numbers and the effects of collateral reinnervation.

Amino Acids, Branched-Chain↗
PubMed2001

Painful sensory polyneuropathy associated with impaired glucose tolerance.

We examined records of 121 patients coded as idiopathic polyneuropathy, extracting neuropathy symptoms, electromyographic data, and diagnostic blood work. Of 89 patients screened for glucose handling, 28 demonstrated frank diabetes mellitus. Of the remaining 61 patients, 15 (25%) had impaired glucose tolerance (IGT) by American Diabetes Association criteria (serum glucose 140--200 mg/dl 2 h after a 75-g glucose load). Excluding those with diabetes mellitus, 35% of patients with neuropathic pain had IGT, more than twice the prevalence found in large, unselected population studies. No other common etiology of polyneuropathy was identified. Two-hour oral glucose tolerance test results were often abnormal, whereas fasting glucose or hemoglobin A1c was normal. Bias due to referral pattern, body weight, or genetics might affect the comparison of our polyneuropathy cohort with a broader, population-based control. However, our results corroborate an association between IGT and painful sensory polyneuropathy and link these patients syndromically to the typical painful polyneuropathy of diabetes mellitus.

Adult↗
PubMed2001

Assessing health status quality of life in ALS: comparison of the SIP/ALS-19 with the ALS Functional Rating Scale and the Short Form-12 Health Survey. ALS C.A.R.E. Study Group. Clinical Assessement, Research, and Education.

BACKGROUND: The progressive loss of function affects the quality of life of the ALS patient. Quality of life depends on a spectrum of factors. Available instruments for assessment include questionnaires developed for generic illness-related disabilities and ALS-specific questionnaires that focus on function. METHODS: Comparisons were made between two ALS-specific questionnaires (ALS Functional Rating Scale and SIP/ALS-19) and a generic instrument (Short Form-12) given to 1,513 patients from the (North American) ALS Patient Care Database. RESULTS: The SIP/ALS-19 correlates well with the ALS Functional Rating Scale and less well with the Short Form-12. CONCLUSIONS: The SIP/ALS-19 can be used as an effective surrogate for the ALS Functional Rating Scale, with the advantage that the SIP/ALS-19 also includes questions that encompass the psychological and social domains of quality of life.

Activities of Daily Living↗
PubMed2001

Increased prevalence of impaired glucose tolerance in patients with painful sensory neuropathy.

OBJECTIVE: To characterize a cohort of patients with neuropathy and impaired glucose tolerance (IGT) but no other identifiable cause of neuropathy. Of patients with diabetes, 10% have peripheral neuropathy at the time of their diagnosis, suggesting that axonal injury may occur early in the course of glucose intolerance. The American Diabetes Association (ADA) revised diagnostic criteria to recognize IGT (a serum glucose between 140 and 200 mg/dl in a 2-h oral glucose tolerance test [OGTT]) as a risk factor for cardiovascular disease independent of development of diabetes. RESEARCH DESIGN AND METHODS: Using revised ADA criteria for diabetes and IGT, we prospectively evaluated 107 sequential patients with idiopathic neuropathy. RESULTS: A total of 13 of the 107 patients had diabetes, whereas 36 (34%) had IGT, nearly three times the prevalence in age-matched control subjects (P < 0.01). OGTT was often elevated, whereas both fasting plasma glucose and HbA(1c) were normal. Comparing patients with diabetes, IGT, or normal OGTT, age and BMI were similar. However, painful sensory symptoms were more common in patients with IGT and diabetes, and family history of neuropathy was significantly more common in normoglycemic patients. Electrodiagnostic findings of axonal injury were less severe in patients with IGT and were more likely to be confined to sensory fibers than in patients with diabetes. CONCLUSIONS: Our results suggest that IGT may cause or contribute to small-fiber neuropathy, which is similar in phenotype to the painful sensory neuropathy commonly encountered in diabetes. Two-hour OGTT is more sensitive than other measures of glucose handling in screening these patients.

Adult↗
PubMed2000

Peripheral neurotoxic disorders.

The effects of several substances known to produce peripheral neuropathy are reviewed, as are the criteria espoused to be useful in establishing their neurotoxicity. Included is a description of systemic and neurologic symptoms and signs important in identification of the neurotoxic disorder, and a description of the resultant electrodiagnostic abnormalities.

Animals↗
PubMed2000

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.

Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally associated with stable or only slowly progressive weakness and early respiratory insufficiency. Recently, the first locus for congenital muscular dystrophy in association with rigid spine syndrome was mapped to chromosome 1p35-p36 in consanguineous Moroccan, Turkish, and Iranian families. We present here a detailed phenotypic description of the familial syndrome linked to this locus, describing 4 siblings (3 boys and 1 girl) of Northern European-American heritage who are the offspring of a nonconsanguineous marriage. All 4 siblings were affected by hypotonia and prominent neck weakness in infancy, early spinal rigidity, and early scoliosis. After initial improvement, muscle strength stabilizes or slowly declines, and skeletal deformities and respiratory insufficiency supervene. Muscle biopsy in an affected child at age 9 months revealed minimal, nonspecific myopathic changes, leading to a diagnosis of "minimal change myopathy." Muscle biopsy in his sibling, at the age of 14 years, revealed chronic and severe myopathic (dystrophic) changes, with normal staining for laminin-2 and for proteins of the dystrophin-glycoprotein complex. A possible explanation for these biopsy findings is that magnetic resonance imaging of the thighs reveals stereotyped selective muscle involvement, with the selectivity more pronounced early in the disease course followed by widespread muscular signal abnormalities in the late stages of the disease. In this family, linkage to the chromosome 1p rigid spine syndrome locus (RSMD1) is supported by maximum LOD scores for several markers of 1.81 at theta = 0, representing the maximum statistical power possible for this family. In combination with the previous report, this syndrome is linked to the RSMD1 locus with a summated maximum LOD score of 6.29, and analysis of recombination events in our family narrows the previously reported RSMD1 locus to 3 centiMorgans.

Adolescent↗
PubMed1999

The use of "clinic room" presentation as an educational tool in the ambulatory care setting.

OBJECTIVE: To evaluate the utility of "clinic room" case presentation in the ambulatory care setting. BACKGROUND: Neurology is increasingly an outpatient specialty. The transition from ward to clinic presents challenges for student and resident education. Interaction between attending physician and trainee is limited by busy patient schedules. New educational strategies must be developed to address the particular challenges of the outpatient clinic. One strategy to increase the quality and length of attending-trainee interaction is case presentation in the patient's presence. METHODS: The authors randomized 100 patients seen in an academic neuromuscular clinic to presentation in a conference room or clinic room. In the latter, all interaction between the trainee and attending occurred in the patient's presence. The attending recorded the time spent with the trainee and patient. The patient was asked to complete a survey and provide certain demographic information. RESULTS: The two groups were similar demographically. Time spent by the attending physician was similar between the two settings. Although there was no difference in patient satisfaction, those randomized to clinic room presentation were significantly more likely (p < 0.002) to feel their questions were answered adequately. There were trends toward these patients feeling less embarrassed, feeling that they were treated respectfully, and feeling that adequate time was spent with them. CONCLUSIONS: Although clinic room presentation does not save attending time, it allows for a more dynamic and intensive interaction among teacher, student, and patient.

Ambulatory Care↗
PubMed1999

A comparison of two commercial quantitative electromyographic algorithms with manual analysis.

Quantitative EMG (QEMG) is a useful technique in the evaluation of neuromuscular disease. Manual waveform measurements have been replaced by automated computer-based measurements, but there is no uniformity in computer algorithms used to make waveform measurements. We compared QEMG measurements made by algorithms in two commercially available EMG machines with manual measurements. Motor unit action potentials (MUAPs) were simultaneously fed into the two machines and analyzed using QEMG default settings and automatic waveform marking. The averaged MUAPs were also manually marked. The two algorithms and manual marking did not differ significantly for MUAP amplitude. There were significant differences between algorithms for duration and number of phases. Our study indicates that, although automated algorithms make QEMG more practical, visual inspection, and remarking of each MUAP if needed, is necessary before making clinical judgments from the data.

Action Potentials↗
PubMed1999

Pathogenesis of amyotrophic lateral sclerosis: a critical review.

Amyotrophic lateral sclerosis is a neurodegenerative disease with unknown pathogenesis. It is a relatively common disorder of adults (2-4 per 100,000 incidence) and leads to death from respiratory failure. There is no cure at this time, and available treatment and management can at best extend survival to a modest degree. Increasing our understanding of the pathogenesis of this disease is essential to the development of more effective treatments. The level of research interest is very high, and yearly reviews of the literature are helpful in assessing progress.

Amyotrophic Lateral Sclerosis↗
PubMed1999

Ongoing trials in motor neurone disease.

Motor neurone disease (MND) is a group of progressive neurodegenerative disorders that cause disability from weakness and lead to death from respiratory failure. The pathophysiology of the several forms of MND is unknown, but recent advances have led to clinical trials of therapeutic agents based on an improved understanding of the pathologic processes. The design of clinical trials in MND is challenging, because an effective drug cannot restore strength, but rather slow the rate of progression. Measurement of progression poses difficulties, and an optimum end-point measure has not been determined. This article will include the clinical features of MND, present the leading hypotheses about causes as they relate to drug therapy, discuss factors to consider in selecting informative end-point measures, and will review past and current drug trials.

Journal Article↗
PubMed1999

Agreement between symptom surveys, physical examination procedures and electrodiagnostic findings for the carpal tunnel syndrome.

OBJECTIVES: The goal of this study was to evaluate the concordance between various clinical screening procedures for carpal tunnel syndrome. METHODS: The subject population consisted of 824 workers from 6 facilities. The evaluated procedures included bilateral sensory nerve conduction testing, physical examinations, and symptom surveys, including hand diagrams. The agreement between the outcomes of various combinations of these procedures was assessed by determining the kappa coefficient. RESULTS: There was relatively poor overlap between the reported symptoms, the physical examination findings, and the electrodiagnostic results consistent with carpal tunnel syndrome. Overall, only 23 out of 449 subjects (5%) with at least 1 positive finding met all 3 criteria (symptoms, physical examination findings, and electrophysiological results consistent with carpal tunnel syndrome) for the dominant hand. The screening procedures showed poor or no agreement with kappa values ranging between 0.00 and 0.18 for all the case definitions evaluated for carpal tunnel syndrome. CONCLUSIONS: The poor overlap between the various screening procedures warns against the use of electrodiagnostic findings alone without the symptom presentation being considered. The results of this study also point to a need for the further development and evaluation of methods for detecting carpal tunnel syndrome.

Adult↗
PubMed1998

Symmetry of normal motor and sensory nerve conduction measurements.

Nerve conduction measurements in normal subjects are assumed to be symmetric, but the normal limits of symmetry have not been determined. Full data on the limits of symmetry for commonly studied nerves are important in the clinical interpretation of nerve conduction data. We selected normal electrodiagnostic studies from archived electromyographic laboratory reports that included bilateral measurements of motor and sensory nerves. Symmetry of nerve conduction measures was confirmed, and only the median and ulnar sensory nerves had significant deviations from symmetry, supporting subclinical nerve damage in the most common dominant hand. The limits of symmetry were determined by calculating the 95th percentile for the differences between sides. For motor and sensory nerves, the range of 95th percentile limits was narrower for measures in upper extremity nerves compared to lower extremity nerves. Several reasons are offered for the wider limits of symmetry in lower extremity nerves.

Electromyography↗
PubMed1998

Median and ulnar nerve conduction studies among workers: normative values.

To determine normative values for nerve conduction studies among workers, we selected a subset of 326 workers from 955 subjects who participated in medical surveys in the workplace. The reference cohort was composed exclusively of active workers, in contrast to the typical convenience samples. Nerve conduction measures included bilateral median and ulnar sensory amplitude and latency (onset and peak). Workers with upper extremity symptoms, medical conditions that could adversely affect peripheral nerve function, low hand temperature, or highly repetitive jobs were excluded from the "normal" cohort. Linear regression models explained between 21% and 51% of the variance in nerve function, with covariates of age, sex, hand temperature, and anthropometric factors. The most robust models were fitted for sensory amplitudes in the median and ulnar nerves for dominant and nondominant hands. The median-ulnar difference was least sensitive to adjustment, indicating it is the best measure to use if corrections are not made to account for relevant covariates. A key point was that the magnitude of variance increased with age and anthropometric factors. These findings provide strong evidence that to improve diagnostic accuracy, electrodiagnostic testing should control for relevant covariates, particularly age, sex, hand temperature, and anthropometric factors.

Adult↗