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Biomedical subjects

X Ferrer

Publications and source records attributed to X Ferrer.

At least 37 records · Page 2Linked to original sources

Malignant infiltration of peripheral nerves in the course of acute myelomonoblastic leukaemia: neuropathological study of two cases.

Two patients suffering from acute myelomonoblastic leukaemia developed clinical evidence of peripheral nerve involvement. In both cases, a peripheral nerve biopsy revealed endoneurial cellular infiltrates which were identified as leukaemic cells by immunocytochemistry. Ultrastructural studies showed mainly axonal damage. Moreover, in one patient, a few features of active demyelination were also observed.

Action Potentials

Late central demyelination after Fischer's syndrome: MRI studies.

The case of a patient who presented with clinical, electrophysiological, and MRI evidence of central demyelination is described. The patient had been admitted to hospital for Fischer's syndrome a few years previously. The association of these two events suggests that central and peripheral myelinopathy may be related in Fischer's syndrome.

Ataxia

Repeated tuberculin testing in patients with active pulmonary tuberculosis.

OBJECTIVE: The proportion of tuberculin reactors in a population and the intensity of tuberculin reactions have been shown to increase with increasing exposure to mycobacterial infection, eg, repeated BCG immunization. These observations suggested that tuberculin reactivity would become uniformly high in individuals with a high mycobacterial load who did not have a known cause of anergy. Since tuberculin reactivity has been measured to evaluate the possible genetic regulation of responses to mycobacteria in humans, it is important to study its behavior under conditions of ongoing, maximal exposure to mycobacteria. In the present study, we determined the mean size of tuberculin reactivity in BCG-immunized and unimmunized patients with pulmonary tuberculosis of recent onset, and the stability of tuberculin reactions during and after treatment of pulmonary tuberculosis. METHOD: Serial tuberculin testing was performed on patients with newly diagnosed active pulmonary tuberculosis diagnosed over a period of 2 years at the National Institute for Respiratory Diseases in Santiago, Chile. The first tuberculin test was performed at the time of diagnosis in 58 patients. Repeated tuberculin testing was performed 2 weeks later in 15 patients with initial reaction sizes < 15 mm. Four additional tuberculin tests were performed, one each at 3-months intervals in 42 patients regardless of the size of the initial tuberculin reaction. RESULTS: Tuberculin reactions at entry had a unimodal distribution in patients both with and without BCG scars (14.8 +/- 5.0 mm and 16.5 +/- 5.2 mm, respectively). A second tuberculin test in patients with initial reaction sizes < 15 mm showed a moderate, statistically significant increase in the mean reaction size (PPD1: 10.1 +/- 3.2 mm; PPD2: 11.9 +/- 4.8 mm). Repeated tuberculin testing over 1 year revealed no significant changes in reaction size. The mean reaction sizes were 15.8 +/- 5.0 mm at entry, 15.5 +/- 5.4 mm at 3 months, 17.2 +/- 5.2 mm at 6 months, 17.0 +/- 5.1 mm at 9 months, and 16.7 +/- 54 mm at 12 months. The standard deviation of a random observation within patients was 5.3 mm. The largest variations due to increased reactivity after 6 months of treatment were observed in patients with reaction < 15 mm at entry compared with hyperergic patients, and in BCG-immunized patients compared to unimmunized patients. CONCLUSIONS: In the presence of an ongoing mycobacterial infection, patients without anergizing conditions express a tuberculin reactivity that is relatively constant during and after treatment of pulmonary tuberculosis. The size and stability of the reactions seem to be determined by individual conditions that include the tuberculin reactivity at the time of diagnosis and the BCG immunization status.

Adolescent

[Limb-girdle syndrome. A study of 46 cases].

We report a series of 46 patients (32 women and 14 men) with limb-girdle syndrome. After reappraisal, another diagnosis was made in 10 of them. Becker's muscular dystrophy was the most frequent cause among men (near 50 p. 100). A Duchenne muscular dystrophy manifesting carrier was discovered among 13 reevaluated women. Among the 36 cases (29 women and 7 men) without any defined etiology, 29 were without any other known familial history. Fifteen of these women had similar clinical findings: incipient weakness in the pelvic girdle and onset of symptoms most often in the forties. In these cases serum creatine kinase activity was normal or slightly elevated, and muscle biopsy showed non-specific patterns. "Late onset muscular dystrophy in females" should be reevaluated.

Adult

Effects of copper, iron and zinc on oedema formation induced by phospholipase A2.

1. Intradermal or subplantar injection of soluble snake venom phospholipase A2 (PLA2) evoked a brisk inflammatory response, with cutaneous vascular permeability increase and paw oedema. 2. These inflammatory processes are mainly the result of arachidonic acid cascade activation and mast cell degranulation. 3. Copper, iron and zinc have an inhibitory effect on vascular permeability increase and paw oedema induced by PLA2. 4. Copper and iron could have not only a direct effect on PLA2 but on enzymes of arachidonic acid cascade. 5. However, zinc have a moderate antiinflammatory activity. This effect could be the result to inhibit PLA2 induced mast cell degranulation.

Animals

Dystrophin.

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Dystrophin

[Autosomal dominant centronuclear myopathy].

In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3. Serum creatinine kinase was always within the normal range. In one case myotonic bursts were found at electromyography. In 2 cases brain stem auditory evoked potential studies demonstrated abnormal prolongation of interpeak latencies I-III and favoured subclinical nervous system involvement. Muscular biopsies showed typical features of centronuclear myopathy with 50 to 80% central nuclei. In two cases immunocytochemical labelling of dystrophin showed staining in the sarcoplasm in favour of an arrest in the morphogenesis of developing myofiber. Others families with autosomal dominant CNM in the literature and also some sporadic adult cases had similar clinical features.

Adult

PLA2-induced oedema in rat skin and histamine release in rat mast cells. Evidence for involvement of lysophospholipids in the mechanism of action.

Injection of phospholipase A2 (PLA2) in the rat skin produced a significant rise in oedema, which was inhibited by the simultaneous coinjection of aristolochic acid (100 micrograms), mepacrine (100 micrograms) and p-bromophenacyl bromide (10 micrograms). Indomethacin, nordihydroguaiaretic acid and WEB 2086 were without inhibitory effect on this model, whereas dexamethasone (5 mg/kg, p.o.) and coinjection of chlorpheniramine (20 micrograms) inhibited the oedema formation by more than 60%. Dose-dependent histamine release by rat peritoneal cells was induced by PLA2 and by lysophosphatidylserine and this effect could be antagonized by aristolochic acid and mepacrine. Apomorphine, previously reported to be an antagonist at lysophospholipid receptors, was able to inhibit the histamine release by mast cells as well as the oedema formation in rat skin. Taken all together, these results suggest that lysophospholipids, produced by the action of PLA2, are the mediators for the histamine release in rat peritoneal cells and could play an important role in the early oedema development in rat skin after PLA2 administration.

Animals

[Polymicrogyria and ulegyria. Diagnosis by magnetic resonance].

Three patients who had had epilepsy since the second decade of life were studied with cranial magnetic resonance (MR). Two patients had no antecedents of interest during pregnancy and the perinatal period and neurological examination was normal. The third patient had had dystocia and presented left hemiparesia since then, with normal intellectual development. None of the cases had any family history of neurological disease. Cranial magnetic resonance was performed in the three patients demonstrating polymicrogyria in two and ulegyria in the other, in addition to other lesions. The first patient presented an unilateral area of polymicrogyria related with a porencephalic cyst in the distal territory of the right sylvian artery and ipsilateral heterotopia of periventricular location. The second patient presented bilateral periventricular heterotopia, partial agenesis of the corpus callosum and an enlarged cisterna magna in addition to bilateral frontal-occipital polymicrogyria. Finally, ulegyria was observed in the third patient in the edges and neighboring regions of a right rolandic porencephalic cyst, as well as an enlarged cisterna magna.

Adult

Delayed onset movement disorders as a complication of central pontine myelinolysis.

This report describes a case of central pontine myelinolysis occurring after a rapid correction of profound hyponatremia. Delayed-onset generalized dystonia and choreoathetosis then appeared. A small pontine myelinolysis was demonstrated by magnetic resonance images, but striatal myelinolysis could not be established. Aspects of movement disorders associated with the osmotic demyelination syndrome are briefly reviewed and discussed.

Athetosis

[Sensory neuropathy and subacute dysautonomia. Clinical and pathological study].

We report a case of severe subacute autonomic and sensory neuropathy in a 52 year-old man. Cerebrospinal fluid protein was 275 mg/dl. Electrophysiological data were consistent with an axonal sensory neuropathy. Nerve biopsy showed a severe decrease in myelinated fibers, and a less severe loss of unmyelinated fibers. No cause was found and recovery was almost complete over 4 years, with minimal persistent dysautonomia. This case and 4 similar reported cases are compared with pure dysautonomia and with sensorimotor dysautonomic neuropathy. The site of damage is discussed and it is suggested that these cases are axonal forms of inflammatory polyneuropathy.

Autonomic Nervous System Diseases

[Compliance with tuberculosis treatment in adults in Santiago, Chile].

A prospective study was conducted to estimate the current magnitude of adherence to short-course tuberculosis treatment, the degree of abandonment, the characteristics of treatment dropouts, and the causes of this abandonment. The study group was made up of tuberculosis patients over the age of 15 who received care at the Western and Southern Health Services of the Metropolitan Region of Santiago, Chile, between 1 October 1987 and 31 January 1988. The percentage abandoning treatment, calculated by the life table method, was 11.5. The profile of patients who dropped out of treatment was as follows: male, under 45 years of age, single, low level of education, no steady work, homeless, and alcoholic. In addition, an opinion survey on the variables associated with abandonment was conducted and it was concluded that the main ones were alcoholism and intolerance to tuberculosis drugs. Awareness of this profile makes it possible to take measures to prevent patients from abandoning treatment, as well as to educate and even hospitalize at the start of treatment those tuberculous patients exhibiting such a profile.

Adolescent

The influence of Calmette-Guérin bacillus immunization on the booster effect of tuberculin testing in healthy young adults.

The booster or enhancement effect of repeated tuberculin skin testing in Calmette-Guérin bacillus (BCG)-vaccinated young adults was studied in 208 first-year medical, nursing, and medical technology students in Santiago, Chile, where BCG vaccine is usually administered at birth and at 6 and 14 yr of age. Thirty-three students had no BCG scar, 62 had one scar, 71 had two scars, and 42 had three scars. The mean age for each group was 19 yr. All students were healthy and had no known exposure to tuberculosis or history of tuberculosis or other mycobacterioses. The size in millimeters of induration of the first tuberculin reaction (PPD1) was clearly correlated with the number of BCG scars: 2.3 +/- 4.6 for no scars; 6.7 +/- 6.7 for one scar; 10.9 +/- 5.9 for two scars, and 13.2 +/- 5.3 for three scars. The second tuberculin reaction (PPD2), performed 2 wk later on the contralateral forearm, showed a marked increase in reactivity. The increase in reaction size was most evident in students who had BCG scars but who were initially PPD negative (less than 10 mm). Smaller increases were observed in students without BCG scars, and also in those who had BCG scars but who were initially tuberculin positive (greater than or equal to 10 mm). The persistence of the booster effect was evaluated by performing PPD3 1 yr later. PPD1-negative students with BCG scars maintained the increased level of reactivity to PPD2 after 1 yr. An immunizing effect of tuberculin testing was suggested in 11 nonimmunized students who were initially PPD negative.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

[Hypothyroid neuropathy].

Two cases of polyneuropathy in patients with hypothyroidism are reported. In both cases, the polyneuropathy involved the lower limbs and was predominantly distal. It was sensorimotor in the first patient and purely sensory in the second one. Electrophysiological findings were consistent with an axonopathy. Symptoms and electrophysiological parameters improved with thyroid therapy. Neuropathy in such cases is probably related to the duration of hypothyroidism.

Aged