Search PubMed⌕ Search

Biomedical subjects

R Gold

Publications and source records attributed to R Gold.

At least 19 recordsLinked to original sources
PubMed1992

Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis.

The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Apart from "classical" clinical presentations, asymptomatic or only mildly affected individuals with deletions in the dystrophin gene have now been reported. We describe two families which were initially classified as metabolic myopathies, until the diagnosis of atypical BMD was established after dystrophin analysis at the protein and DNA level. A modern diagnostic approach to myopathies should, therefore, not only include morphological and biochemical investigations, but also be extended to the analysis of the dystrophin gene.

Adolescent↗
PubMed1992

Muscle pathology correlates with permanent weakness in hypokalemic periodic paralysis: a case report.

We present a morphological follow-up in a case of familial hypokalemic periodic paralysis with progressive weakness. At age 12 years muscle biopsy revealed mild vacuolar changes. Seventeen years later, after the patient had developed permanent weakness, light and electron microscopy disclosed tubular aggregates in about 15% of the fibers and medium-grade myopathic alterations. We describe correlation of muscle pathology with permanent weakness in hypokalemic periodic paralysis.

Child↗
PubMed1992

Mycobacterial brain abscess possibly due to bacille Calmette-Guérin in an immunocompromised child.

Disseminated infection with bacille Calmette-Guérin (BCG) is rare, even in immunocompromised patients who receive BCG injections as immunotherapy or immunization. When such infection occurs, it is usually in patients with decreased cellular immunity. A 6-year-old Caucasian girl who was receiving maintenance chemotherapy for acute lymphoblastic leukemia presented with symptoms of meningitis. A temporal-lobe biopsy revealed acid-fast bacilli that were identified as Mycobacterium bovis BCG. Neither the patient nor any family members had been immunized previously. Appropriate therapy resulted in a complete recovery.

Biopsy↗
PubMed1992

Nosocomial urinary tract infections at a pediatric hospital.

Although the epidemiology of nosocomial urinary tract infections (NUTIs) is well-described in the adult population, there is little information on children. We therefore reviewed all our patients with NUTIs, to determine their age, underlying diagnoses, microorganisms involved, use of catheters and secondary bacteremias. During a 2-year period at our institution, NUTIs accounted for 10% of all nosocomial infections (0.8 infections/100 admissions). Of 44,948 patients admitted during this period 0.7% (n = 318) acquired 351 episodes of NUTI. The patient ages ranged from 5 days to 21 years. The highest rates of NUTIs per ward (NUTI/100 admissions or transfers to the ward) were seen in the neonatal surgery (4.8), hematology/oncology (2.7), infant neurosurgery (2.1) and neonatal intensive care units (1.9). The most common organisms isolated were Escherichia coli (26%), Enterococcus sp. (15%), Pseudomonas sp. (13%), Klebsiella sp. (10%) and coagulase-negative Staphylococcus (9%). Catheterrelated infections accounted for 48% of all the NUTIs. Secondary bacteremia occurred rarely, with an incidence of 2.9% (n = 7). We conclude that NUTIs represent an important proportion (10%) of nosocomial infections in our population of hospitalized children, but secondary bacteremia is uncommon.

Adolescent↗
PubMed1992

Development of a short 'readiness to change' questionnaire for use in brief, opportunistic interventions among excessive drinkers.

Excessive drinkers (141) identified in medical settings who were not seeking help for an alcohol problem completed a questionnaire based on Prochaska and DiClemente's stages of change model. Principal components analysis revealed a clear factor structure corresponding to the 'precontemplation', 'contemplation' and 'action' stages of change. On this basis, a 12-item 'Readiness to change' questionnaire was developed with satisfactory psychometric properties. As predicted, scale scores on adjacent stages of change showed significantly higher inter-correlations than scores on non-adjacent stages. Concurrent validation by comparison with subjects' choices of cartoons depicting each of the stages of change and with screening questions regarding aspects of drinking behaviour was moderate to very good. The questionnaire provides a short and convenient measure of readiness to change which may be used in conjunction with brief, opportunistic interventions with excessive drinkers.

Adult↗
PubMed1992

How successful deaf teenagers experience and cope with isolation.

This study examined isolation among a group of deaf high school students who were nominated as "outstandingly successful" by their schools in a stratified random sampling from across the United States. From the data contained in 23 case studies, we determined that most of the students, whether from mainstream or residential programs, experienced some degree of isolation from peers or family or both. Nevertheless, most of the students had developed, or had at their disposal, positive strategies for coping with their isolation. These strategies are discussed and implications are drawn for teachers and parents.

Adaptation, Psychological↗
PubMed1992

Spinal cord microglia in experimental allergic neuritis. Evidence for fast and remote activation.

We have studied the response and the spatial distribution pattern of microglial cells during experimental allergic neuritis induced in the Lewis rat by the transfer of varying doses of activated T cells specific either for the P2 or P0 protein. The microglial reaction was studied immunocytochemically at the light and electron microscopic level using a panel of monoclonal antibodies which included two recently produced antibodies against rat microglial cells, Murine Clone 101 and 102. Activation of microglial cells became apparent through changes in their immunophenotype and morphology within 48 hours of T cell transfer and therefore preceded the onset of clinical disease. Activated microglial cells showed an increased expression of the complement type three receptor, the murine clone 101 and 102 determinants and major histocompatibility complex antigens. The microglial reaction in experimental allergic neuritis occurs at a site remote from the inflammatory changes in the peripheral nerve, the microglial reaction being most prominent in the dorsal and ventral grey matter of the lumbar and the thoracic spinal cord. Similar changes were also observed at this time in the terminal projection fields of the primary, afferent, sensory fibers, such as the nucleus gracilis. Subsequently, after 7 days, motoneurons, particularly in the ventral grey matter of the lumbar spinal cord, were ensheathed by perineuronal microglial cells. These perineuronal microglial cells were in close contact with the neuronal plasma membrane and occasionally appeared to detach afferent synaptic terminals from the surface. Microglial responses were not detected in animals injected with nonpathogenic T cells specific either for the purified protein derivative or ovalbumin. This early activation of microglial cells observed in experimental allergic neuritis suggests that a rapid and remote signaling might be operating in the microglial responses during T cell-mediated autoimmune diseases.

Animals↗
PubMed1991

[Facial myokymia caused by pontine lesions and central fever in multiple sclerosis--case report].

We report on a 35-year old patient with multiple sclerosis (MS) with clinically and electrophysiologically typical facial myokymia, appearing during an acute bout of the disease. Magnetic resonance imaging (MRI) disclosed two new pontine lesions. During a follow-up period of eight months facial myokymia subsided, but five months later central fever with good therapeutic response to carbamazepine developed. In this report we discuss the potential mechanisms of myokymia and central temperature dysregulation in MS.

Adult↗
PubMed1991

[Negative schizophrenic symptoms and their detection].

The paper deals with the methodology and methods for the assessment of negative (or minus) symptoms of schizophrenia. Two approaches are distinguished: Rating scales and objective methods. Statistical analysis of symptom-ratings with comprehensive psychiatric assessment systems (eg Brief Psychiatric Rating Scale, Present State Examination) have supported the distinction between positive and negative symptoms. Therefore special scales have been constructed for the purpose of differentially assessing these symptoms, eg the Scale for the Assessment of Negative/Positive Symptoms (SANS, SAPS) or the Positive and Negative Syndrome Scale (PANSS). Relations to self-rating scales for subjectively experienced deficits and basic symptoms in schizophrenic patients are pointed out, eg Frankfurt Complaint Inventory (FBFB) or Scale for Emotional Blunting (SEB). Psychometric properties of the rating scales for negative symptoms have to be improved, especially their validity often is not shown. Objective--rater-independent--assessment methods for negative symptoms are rare and being experimentally developed. Some symptoms may be assessed by psychological tests as deficiencies in psychological functioning, other by laboratory based (automated) analysis of behaviour, eg speech or facial actions. These investigations increase the reliability of the symptom-assessments. The validation of the methods involves etiological, prognostic and treatment implications of the negative symptoms. Current results suggest, that the negative syndrome of schizophrenia is a heterogenous construct, which has further to be differentiated.

Affective Symptoms↗
PubMed1991

Myopathies and cardiomyopathies: histochemical and biochemical analyses.

The most frequent muscle diseases affecting the heart are muscular dystrophies and myotonic dystrophy. Apart from congenital heart diseases, various metabolic disorders are characterized by cardiac involvement. Potent candidates are carnitine deficiency, beta-oxidation deficiencies, and mitochondrial myopathies such as Kearns-Sayre syndrome. A typical example of an anaerobic metabolic myopathy causing cardiomyopathy is acid maltase deficiency. For diagnosis, ECG and echocardiography as well as cardiac catheterization should be performed and, if indicated, a heart muscle biopsy should be carried out. Diagnosis of the underlying disease should be possible from skeletal muscle biopsy. Besides routine staining, histology should include specific stainings for glycogen, lipids and mitochondrial activity or dystrophin. If certain histochemical abnormalities are found indicating a metabolic disorder, biochemistry is helpful for final diagnosis.

Cardiomyopathies↗
PubMed1991

Use of the Pediatric Risk of Mortality score to predict nosocomial infection in a pediatric intensive care unit.

OBJECTIVE: To define infection rates in patients with Pediatric Risk of Mortality (PRISM) scores greater than and less than 10 on admission to the pediatric ICU (PICU). DESIGN: Descriptive. SETTING: An 18-bed PICU admitting patients of all ages except nonsurgical neonates; within a 585-bed tertiary care pediatric hospital. PATIENTS: Patients admitted to the PICU from July 1987 to February 1988 inclusive. Of 685 admitted, 480 were followed for greater than or equal to 72 hr. METHODS: The baseline state of the patients on admission was determined by a designated intensivist using the PRISM score. Other variables included age, length of stay, and hospital day of onset of infection. Infections were identified by a designated intensivist who undertook prospective daily bedside observation, chart, radiographic, and laboratory review. MEASUREMENTS AND MAIN RESULTS: Equal portions of patients had PRISM scores less than and greater than 10. Significantly more infections occurred in the high PRISM population (10.8% vs. 3.4%, p less than .001). This association held through age, service, and length of stay. Sensitivity, specificity, positive and negative predictive values of a PRISM score greater than 10 were 75%, 53%, 11%, and 97%, respectively. Bacteremias accounted for 36% of infections, skin/eye/drain site 22%, respiratory 16%, wound 15%, and urine 9%. The most prevalent organisms were coagulase-negative staphylococci (32%), Pseudomonas aeruginosa (23%), Candida sp. (20%), and S. aureus (9%). CONCLUSIONS: A PRISM score greater than 10 on PICU admission characterizes a population within the PICU at increased risk of infection. However, 93% of patients did not develop infection and thus, a negative predictive value of 97% yields little additional information.

Adolescent↗
PubMed1991

Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.

Kearns-Sayre syndrome has been associated with large heteroplasmic mitochondrial DNA deletions and morphological alterations at the cytological level. We have measured the activities of different respiratory chain complexes in 3 patients presenting mitochondrial DNA deletions and found no close correlation between gene deletions and enzymatic activities. These data, therefore, point out the importance of analyses at the mitochondrial DNA level in such mitochondrial disorders because gross biochemistry may miss any defect.

Adult↗
PubMed1991

Diagnosis of osteomyelitis.

The early diagnosis of acute hematogenous osteomyelitis depends on a high index of suspicion whenever the physician is confronted with a child experiencing acute onset of bone pain or limited motion of an extremity, regardless of the presence or absence of signs of infection such as fever, local tenderness, redness, swelling or heat (Table 4). Early diagnosis is aided greatly by the use of plain radiography to exclude other conditions and radionuclide bone scans to detect evidence of inflammation at the site of bone pain. "High-tech" procedures such as CAT and MRI should be reserved for situations in which the diagnosis cannot be made by the simpler methods, such as osteomyelitis of the spine or pelvis, or when the anatomic detail provided by MRI is required for planning of surgery. It is very unlikely that CAT or MRI will every be required in the majority of cases of uncomplicated osteomyelitis in children.

Bacterial Infections↗