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PubMed2005

The value of basic science in clinical diagnosis: creating coherence among signs and symptoms.

BACKGROUND: We investigated whether learning basic science mechanisms may have mnemonic value in helping students remember signs and symptoms, in comparison with learning the relation between symptoms and diagnoses directly. PURPOSE: To compare 2 approaches to learning diagnosis: learning how features of various conditions relate to underlying pathophysiological mechanisms and learning the conditional probabilities of features and diseases. METHODS: Undergraduate students (n = 36) were taught 4 disorders (upper motor neuron lesion, lower motor neuron lesion, neuromuscular junction disease and muscular disease), either using basic science explanations or (symptom x disease) probabilities. They were tested with diagnostic cases immediately after learning and 1 week later. RESULTS: On the immediate test, there was no difference in the results. One week later, the accuracy of the mechanism group remained at 0.52, but the performance of the probability group had dropped to 0.43. CONCLUSIONS: Knowledge of basic science may have value in clinical diagnosis by helping students recall or reconstruct the relationships between features and diagnoses.

Clinical Competence↗
PubMed2000

Treatment of cricopharyngeal dysfunction by endoscopic laser myotomy.

Cricopharyngeal dysfunction may be caused by a central or peripheral nerve disease, a muscular disease, previous neck surgery or it may be idiopathic. The treatment may be a myotomy of the cricopharyngeal muscle carried out externally or endoscopically. Since 1995 we have treated 17 patients with endoscopic myotomy of the cricopharyngeal muscle with the CO2 laser. Anamnesis was the basis for the diagnosis and we obtained further information from videoradiographs of the upper gastrointestinal tract and from manometry. There were no immediate or late complications from the surgery. Three patients died from other diseases, the remaining 14 patients were sent a follow-up questionnaire and asked to grade their complaints pre- and postoperatively and to answer questions about their weight. All patients except one stated that their swallowing abilities had improved since the surgery and more than half of the patients had gained weight. A low rate of complications and postoperative morbidity, combined with good functional results, indicate that endoscopic laser myotomy should be recommended for treatment of cricopharyngeal dysfunction.

Aged↗
PubMedDate not supplied

[Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available].

INTRODUCTION: Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscular disease, which affects 1 in 3500 male newborns. The course of the other allelic form of the disease (Becker muscular dystrophy--BMD) is milder. Female relatives of affected subjects may carry the mutated gene. AIM OF THE STUDY: The purpose of this study was to detect the carrier among 23 families affected with DMD/BMD, in whom DNA from the deceased affected person was not available. MATERIAL AND METHODS: The analysis of polymorphic sequences within the dystrophin gene was applied. RESULTS: Informative results were obtained in 26 of 39 females examined (66%): 7 females were found to be carriers and 19 noncarriers. In one family the deletion could be detected in the mother and sister of the deceased proband.

Adult↗
PubMed1993

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy. A single locus for these disorders has been mapped by recombination events to a region of 0.7 centimorgan (range, 0.1-2.1 centimorgans) between loci D5S435 and MAP1B on chromosome 5q11.2-13.3. By using PCR amplification to screen yeast artificial chromosome (YAC) DNA pools and the PCR-vectorette method to amplify YAC ends, a YAC contig was constructed across the disease gene region. Nine walk steps identified 32 YACs, including a minimum of seven overlapping YAC clones (average size, 460 kb) that span the SMA region. The contig is characterized by a collection of 30 YAC-end sequence tag sites together with seven genetic markers. The entire YAC contig spans a minimum of 3.2 Mb; the SMA locus is confined to roughly half of this region. Microsatellite markers generated along the YAC contig segregate with the SMA locus in all families where the flanking markers (D5S435 and MAP1B) recombine. Construction of a YAC contig across the disease gene region is an essential step in isolation of the SMA-encoding gene.

Base Sequence↗
PubMedDate not supplied

Histopathological data on six cases of hypothyroidism accompanying muscular chronic disease.

This study was carried out on 6 patients with myxedema that showed major muscular alterations. Light and electron microscopic examinations of the striated muscle structure revealed myxedematous myopathy lesions. Considering the existence of several hypotheses regarding the pathogeny of muscular alterations, the authors discuss the likelihood of a myogenic syndrome induced by an immunity deficit in hypothyroidism.

Antibodies↗
PubMed1977

[Peculiarities of electrophysiological pattern of the extensor digitorum brevis muscle. Its importance in neurologic diagnosis].

Fifty-five EMG records from the extensor digitorum brevis muscle were analysed in cases of lower motor neuron lesions, primary muscular diseases and in controls. In all patients with lower motor neuron disease denervation pattern was obtained from the muscle. In the control group the so-called neurogenic pattern was recorded in 45% of cases, in the remaining subjects the findings were normal. In patients with primary muscular diseases denervation pattern was obtained in 45% of cases while in the remaining patients the changes were typically myogenic. In the control group and in patients with primary muscular diseases no correlation was observed between the age of the patients and the presence of neurogenic changes in the muscle. Presence of the so-called neurogenic pattern in the muscle may be due to the anatomical structure and position of the muscle which is particularly exposed to microtraumas in cases of primarily muscular diseases.

Adolescent↗
PubMedDate not supplied

Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population.

UNLABELLED: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease with death usually occurring because of respiratory failure. Signs of early respiratory insufficiency are usually first detectable in sleep. OBJECTIVE: To study the presentation of sleep-related breathing disorder (SRBD) in patients with DMD. METHOD: A retrospective review of patients with DMD attending a tertiary paediatric sleep disorder clinic over a 5-year period. Symptoms, lung function and polysomnographic indices were reviewed. RESULTS: A total of 34 patients with DMD were referred for respiratory assessment (1-15 years). Twenty-two (64%) reported sleep-related symptomatology. Forced vital capacity (FVC) was between 12 and 107% predicted (n = 29). Thirty-two progressed to have polysomnography of which 15 were normal studies (median age: 10 years) and 10 (31%) were diagnostic of obstructive sleep apnoea (OSA) (median age: 8 years). A total of 11 patients (32%) showed hypoventilation (median age: 13 years) during the 5-year period and non-invasive ventilation (NIV) was offered to them. The median FVC of this group was 27% predicted. There was a significant improvement in the apnoea/hypopnoea index (AHI) (mean difference = 11.31, 95% CI = 5.91-16.70, P = 0.001) following the institution of NIV. CONCLUSIONS: The prevalence of SRBD in DMD is significant. There is a bimodal presentation of SRBD, with OSA found in the first decade and hypoventilation more commonly seen at the beginning of the second decade. Polysomnography is recommended in children with symptoms of OSA, or at the stage of becoming wheelchair-bound. In patients with the early stages of respiratory failure, assessment with polysomnography-identified sleep hypoventilation and assisted in initiating NIV.

Adolescent↗
PubMed2006

Sonographically guided percutaneous muscle biopsy in diagnosis of neuromuscular disease: a useful alternative to open surgical biopsy.

OBJECTIVE: The purpose of this study was to evaluate the feasibility of sonographically guided percutaneous muscle biopsy in the investigation of neuromuscular disorders. METHODS: Sonographically guided percutaneous needle biopsy of skeletal muscle was performed with a 14-gauge core biopsy system in 40 patients over a 24-month period. Patients were referred from the Department of Neurology under investigation for neuromuscular disorders. Sonography was used to find suitable tissue and to avoid major vascular structures. A local anesthetic was applied below skin only. A 3- to 4-mm incision was made. Three 14-gauge samples were obtained from each patient. All samples were placed on saline-dampened gauze and sent for neuropathologic analysis. As a control, we retrospectively assessed results of the 40 most recent muscle samples acquired via open surgical biopsy. RESULTS: With the use of sonography, 32 (80%) of 40 patients had a histologic diagnosis made via percutaneous needle biopsy. This included 26 (93%) of 28 patients with acute muscular disease and 6 (50%) of 12 patients with chronic disease. In the surgical group (all acute disease), 38 (95%) of 40 patients had diagnostic tissue attained. CONCLUSIONS: Sonographically guided percutaneous 14-gauge core skeletal muscle biopsy is a useful procedure, facilitating diagnosis in acute muscular disease. It provides results comparable with those of open surgical biopsy in acute muscular disease. It may also be used in chronic muscular disease but repeated or open biopsy may be needed.

Adult↗
PubMed1991

[Limb-girdle dystrophy and pregnancy: a case report].

A case of pregnancy with Limb-girdle dystrophy is presented. The course of pregnancy remained uncomplicated, the patient has been delivered at 42 week's gestation by cesarean section, performed for dystocia and fetal distress. Histological and immunohistochemical examinations of the myometrium were unable to show its involvement in the muscular disease. The influence of the muscular disease and the route of delivery for such patients are discussed.

Adult↗
PubMed1988

Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans.

We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

Connective Tissue Diseases↗
PubMed1993

[Work absenteeism in a mining company: trends in 1985-1988].

The magnitude of medical and non medical absenteeism among male workers performing rotative shifts in a high altitude mining company was studied. There was a general rate of absenteeism of 8.8 absent days per 100 labor days, which means that 31.8% of the total labor force was absent every month. Absenteeism due to medical causes correspond to a mean of 85% of total lost days during the four years of the study. Common diseases (digestive, respiratory, and osteo-muscular diseases, traumatisms and poisonings) give account 84.3% of these lost days. Among these, respiratory diseases had the higher prevalence and traumatisms and osteo-muscular diseases the higher severity (with values over 10 days off). The production areas and people working in shifts had the higher prevalences of medical absenteeism. The numbers of days off for medical causes almost doubled during the four year period and in 1988 represented 14% of all the salaries paid during the year. This increasing tendency was associated with a massive entrance to private health systems. It is concluded that the problem of medical absenteeism in this company is complex and growing and its attenuation requires preventive measures.

Absenteeism↗
PubMed2001

[Chronic respiratory insufficiency in France].

The data concerning the prevalence of chronic respiratory insufficiency (CRI) in France are scarce: in 1994 official numbers were 14,000 deaths due to chronic bronchitis, 2,000 due to asthma for a total number of 40,000 deaths with respiratory cause; the same year 27,000 new patients were compensated for chronic respiratory insufficiency by social security services. On January 1st 2000 the non-profit organizations was in charge of 21,500 patients with long term oxygen therapy and 10,500 with home ventilation, and the commercial companies respectively 30,000 and 6,000. Accordingly the total of patients treated at home for CRI is about 68,000. The repartition by cause of CRI, the characteristics of patients and the prognosis can be evaluated thanks to the ANTADIR observatory which collects medical data since 1981. Chronic obstructive pulmonary diseases (chronic bronchitis, emphysema, asthma, bronchiectasis) count for more than half of the total of cases. Other causes comprise pleuro-parietal diseases (tuberculosis sequelae, kyphoscoliosis), neuro-muscular diseases and interstitial lung diseases. CRI is a severe disease with a survival median of three years for chronic obstructive pulmonary diseases, and a prognosis slightly better for kyphoscoliosis and neuro-muscular diseases, and worse for pulmonary fibrosis.

Chronic Disease↗
PubMed2003

Protein defects in neuromuscular diseases.

Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is highly variable, ranging from severe congenital forms with rapid progression to milder forms with later onset and a slower course. In recent years, several proteins from the sarcolemmal muscle membrane (dystrophin, sarcoglycans, dysferlin, caveolin-3), from the extracellular matrix (alpha2-laminin, collagen VI), from the sarcomere (telethonin, myotilin, titin, nebulin), from the muscle cytosol (calpain 3, TRIM32), from the nucleus (emerin, lamin A/C, survival motor neuron protein), and from the glycosylation pathway (fukutin, fukutin-related protein) have been identified. Mutations in their respective genes are responsible for different forms of neuromuscular diseases. Protein analysis using Western blotting or immunohistochemistry with specific antibodies is of the utmost importance for the differential diagnosis and elucidation of the physiopathology of each genetic disorder involved. Recent molecular studies have shown clinical inter- and intra-familial variability in several genetic disorders highlighting the importance of other factors in determining phenotypic expression and the role of possible modifying genes and protein interactions. Developmental studies can help elucidate the mechanism of normal muscle formation and thus muscle regeneration. In the last fifteen years, our research has focused on muscle protein expression, localization and possible interactions in patients affected by different forms of muscular dystrophies. The main objective of this review is to summarize the most recent findings in the field and our own contribution.

Blotting, Western↗
PubMed1998

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.

Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease that results from reduced levels of, or mutations in, the Survival of Motor Neurons (SMN) protein. SMN is found in the cytoplasm and the nucleus where it is concentrated in gems. SMN interacts with spliceosomal snRNP proteins and is critical for snRNP assembly in the cytoplasm. We show that a dominant-negative mutant SMN (SMNdeltaN27) causes a dramatic reorganization of snRNPs in the nucleus. Furthermore, SMNdeltaN27 inhibits pre-mRNA splicing in vitro, while wild-type SMN stimulates splicing. SMN mutants found in SMA patients cannot stimulate splicing. These findings demonstrate that SMN plays a crucial role in the generation of the pre-mRNA splicing machinery and thus in mRNA biogenesis, and they link the function of SMN in this pathway to SMA.

Autoantigens↗
PubMed1976

Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry.

A gas chromatographic mass spectrometric method has been developed for the rapid determination of a urinary tetrasaccharide (alpha-D-Glc-(1 leads to 6)-alpha-D-Glc-(1 leads to 4)-alpha-D-Glc-(1 leads to 4)-D-Glc). The urine sample is first fractionated by gel chromatography. An appropriate internal standard is added to the pooled tri-pentasaccharide fraction, which is then reduced, methylated and fractionated by g.c. The identification of the tetrasaccharide derivative is based on the g.c. relative retention time and the mass spectrum of the reduced permethylated tetrasaccharide. The normal excretion rate was in the range of 0.1-2.5 mg per 24 hours. Greatly increased amounts (9.4-89.6 mg 24 h-1) were found in the urine of patients with glycogen storage disease type II and type III and in one patient with unclassified muscular disease. A moderate increase (3.6m6 mg 24 h-1) was observed in one patient with glycogen storage disease type VI, in two patients with Duchenne muscular dystrophy and in two other patients with unclassified muscular disease.

Adolescent↗
PubMedDate not supplied

[Malate dehydrogenase and its isoenzymes in the peripheral blood leukocytes in progressive muscular dystrophy of the Duchenne type].

The authors studied the composition of isoenzymes of malic dehydrogenase in peripheral blood leucocytes of patients with Duchenne-type progressive muscular dystrophy, their mothers and sisters, and also in other primary muscular diseases. The studied group included 25 patients with Duchenne dystrophy, 20 their mothers and sisters, and 11 patients with other primary muscular diseases. The control group comprised 10 healthy subjects aged 19-40 years. Sporadically a decrease was observed of total activity and of the amount of the mitochondrial isoenzyme of MDH in Duchenne dystrophy. In one case the m-MDH isoenzyme was completely absent, this patient had most advanced disease. In the mothers of patients decreased MDH activity occurred rarely (once in 13 mothers) and the pattern of MDH isoenzymes was normal, similarly as in sisters of these patients. In other primary muscular diseases no abnormalities were found.

Adolescent↗