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Biomedical subjects

J A Martínez-Matos

Publications and source records attributed to J A Martínez-Matos.

17 recordsLinked to original sources
PubMed2006

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis (SSCA), the connexin 32 gene was analysed in all the patients from 498 families with sporadic or dominant inheritance with no male-to-male transmission and absence of the 17p2 duplication or deletion. Affected males had pes cavus, distal leg weakness, muscular distal atrophy, areflexia and distal sensory loss. The 106 families in which SSCA revealed abnormal migration electrophoresis were directly sequenced. We found 34 families (59 patients) with mutations in connexin 32 gene. In electrophysiological studies, 58.8% families presented slow and 14.7% intermediate nerve conduction velocities. Molecular findings revealed that codon 164 (29.4 +/- 15.3%) and the second extracellular (EC2) domain (44.1 +/- 16.6%) were the most frequently affected codon and domain of the connexin 32. Six novel mutations, Leu39fs, Glu47Gly, His153fs, Cys179Tyr, Cys201Phe and Ser211fs, were found in our study.

Amino Acid Sequence↗
PubMed2004

Public health surveillance and incidence of adulthood Guillain-Barré syndrome in Spain, 1998-1999: the view from a sentinel network of neurologists.

Temporal variation in Guillain-Barré syndrome (GBS) warrants monitoring in certain situations. This study sought to describe a public-health-based GBS surveillance service in Spain and conduct pilot surveillance in the period 1998-1999. Neurologists from 11 hospitals countrywide, serving a population of 3.9 million, reported all patients, ages 20 years or over, admitted to hospital with suspected GBS. Cases that did not belong to the designated hospital catchment area or failed to fulfill diagnostic criteria after follow- up were excluded. Reported monthly incidence was compared against predicted incidence obtained from retrospective data (1985-1997) using a reported method based on 97.5% percentile values. Alarm thresholds for 2000 onwards were obtained by applying the same method to the updated 1985-1999 series. During the 2-year period, 98 GBS cases were reported, yielding an overall age-adjusted incidence of 1.26 per 100 000 population, with a breakdown by sex of 1.83 for males and 0.76 for females. Monthly incidence remained below or was similar to the corresponding threshold limit value. Seasonality with highest incidence in winter was more pronounced in the elderly. Preceding events, mainly respiratory infections, were identified in 71% of patients. Pilot two-year GBS surveillance in Spain resulted neither in alarm nor in preventive measures. Adult GBS incidence in Spain might be monitored by a surveillance system set up at short notice when a possible threat is perceived. A monthly incidence of over 3 per 100 000 person-years in the population aged 20 years or older would exceed threshold values.

Adult↗
PubMed2001

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. A wide range of disease severity for peripheral neuropathy, from asymptomatic cases to subjects with chronic skin ulcers in their feet and osteomyelitis leading to amputations, was detected in D66del patients. Mild, often asymmetrical, hearing impairment was found in all but one patient with mutation D66del of this family and the same mutation was present in an independent family ascertained because of hearing impairment. We have found mouse connexin 31 (Gjb3) gene expression in the cochlea and in the auditory and sciatic nerves, showing a pattern similar to that of Gjb1 (connexin 32), of which the human ortholog (GJB1) is involved in X-linked peripheral neuropathy. This expression pattern, together with auditory-evoked brainstem anomalous response in D66del patients, indicates that hearing impairment due to GJB3 mutations involves alterations in both the cochlea and the auditory nerve. Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders.

Adult↗
PubMed2001

Guillain-Barré syndrome in Spain, 1985-1997: epidemiological and public health views.

Retrospective demographic information and hospital record data were collected for 337 patients resident in Spain who had validated Guillain-Barré syndrome (GBS) diagnoses and clinical onset during the period 1985-1997 and had been admitted to 11 centres, covering a population of 3.9 million. The European age-adjusted GBS incidence per 100,000 for 1985-1997 among the population aged 20 and over was 0.85, with a breakdown of 1.14 in men and 0.58 in women. Incidence increased with age and time, with occasional rises that mimicked outbreaks and occurred at irregular 2- to 4-year intervals, mainly in winter. Spatial variation was modest. Respiratory and gastrointestinal infections respectively constituted 49.3 and 19.3% of recorded preceding events. The 97.5% intercentile limit, obtained from the 1985-1997 monthly incidences using predictions from a Poisson model, was proposed as the threshold value for pilot epidemiological surveillance of GBS in 1998-1999.

Adult↗
PubMed1999

Leptin after IGF-I generation test in a patient with hypopituitarism and myotonic dystrophy disease.

A 54-years-old woman diagnosed of myotonic dystrophy (MyD) with past medical history of massive postpartum haemorrhage at age 28 and panhypopituitarism was studied. BMI and body composition were determined and we determined baseline serum IGF-I, IGFBP3, insulin and leptin levels and after the IGF-I generation test performed after the GH administration of 0.1 U/kg/day s.c each evening for 4 days. As expected the patient had lower baseline IGF-I and IGFBP3 with high insulin and leptin levels. After IGF-I generation test, IGF-I, IGFBP3 and insulin levels increases without changes in body composition and leptin levels. In the current study, high leptin baseline levels may reflect the hyperinsulinism action over the adipose tissue in MyD and the effect of hypopituitarism over leptin regulation. After 4 days of GH administration, we demonstrated the lack of a modulatory role on leptin levels of GH and acute insulin increase, and a direct effect of GH on leptin can be excluded.

Body Mass Index↗
PubMed1999

Insulin regulation of leptin synthesis and secretion in humans: the model of myotonic dystrophy.

OBJECTIVE: Myotonic dystrophy (MyD) is a systemic disorder in which insulin resistance is well recognized. In the present study we have characterized plasma leptin levels in patients with MyD and in age, sex and body mass index (BMI) matched controls and assessed the influence of leptin on the clinical manifestations of MyD. DESIGN AND PATIENTS: Body composition, plasma leptin, fasting and post-oral glucose tolerance test insulin, IGF-I and IGFBP3 were studied in 34 MyD patients and 33 controls. MEASUREMENTS: Body composition was measured using a bioelectrical impedance analyzer, and circulating levels of insulin, leptin, IGF-I, IGFBP3 were measured by IRMA or RIA. Insulin sensitivity was modelled according to a homeostasis model assessment (HOMA) computer-solved model. RESULTS: Percentage body fat was higher in patients than in controls (25.6 +/- 2.28% vs 18.8 +/- 1.53%, P = 0.013). Insulin levels, both fasting and after oral glucose were higher in patients than in controls, and insulin sensitivity was lower in patients than in controls. Serum leptin was higher in patients than in controls (20.98 +/- 3.11 micrograms/l vs 10.4 +/- 1.31 micrograms/l, P = 0.004), and higher in women than in men, both in patients and in controls. In patients, leptin levels were correlated with age, BMI, fasting insulin, insulin area under curve and lower insulin sensitivity, whereas leptin levels were not correlated with body fat or other parameters of body composition. In controls, leptin levels were correlated with BMI and body fat. The results were evaluated using logistic regression models for each of the 2 populations. In the model of MyD, insulin resistance and age correctly identified higher leptin levels in relation to controls out of 87.88% of patients, and in the model of controls male sex with a negative correlation and BMI correctly identified their leptin levels out of 84.33% cases. CONCLUSIONS: These findings show that MyD provides a different model of leptin regulation in humans, and suggest that in MyD patients there are correlations between leptin and insulin resistance and age, irrespective of body fat. In contrast, leptin levels in controls, correlate with sex and BMI. The data on leptin in this population of patients can not be related aetiologically to the muscle disease itself.

Adolescent↗
PubMed1998

[Treatment of Guillain-barre syndrome: immunoglobulins or plasmapheresis?].

The aim of this study was to compare the efficacy of IgIV versus plasmapheresis in the treatment of Guillain-Barré syndrome. Twenty-four Guillain-Barré patients were treated either with IgIV (n = 17), or plasmapheresis (n = 7). Evolution during the first year after onset were assessed using the motor functional scale of Hughes and nerve conduction studies. IgIV treated patients had better functional recovery than the plasmapheresis group (p < 0.05) and shorter hospital stays (p < 0.05). These differences were significant from day 30 after treatment. Complications occurred in 14 patients: 9 (58%) in the IgIV group, and 5 (71%) in the patients treated with plasmapheresis. IgIV treated patients had better functional recovery scores and shorter hospital stays. There were no differences in the complication rates. Therefore we believe that IgIV is the treatment of choice for Guillain-Barré syndrome in our clinical setting.

Adult↗
PubMed1998

[Neuropathy by n-hexanes: a generalized disorder of the intermediate filaments].

BACKGROUND: Chronic inhalation of glues containing n-hexanes produces neurofilament (NF) accumulation which induces sensory-motor polyneuropathy. In vitro assays have shown this toxic substance causes intermediate filaments (IF) aggregation in non-neuronal cells. OBJECTIVE: To describe intermediate filament changes in human pathology due to n-hexanes. PATIENTS AND METHODS: Sural nerve and skin biopsy samples from 2 patients who suffered from a severe sensory-motor polyneuropathy after prolonged inhalation of glue containing n-hexane were examined with electron microscopy and vimentin and phosphorylated NF immunocytochemistry. RESULTS: Abnormal accumulations of NF and NF-immunoreactive products occurred in nerve fibers and increased numbers of fibrils were observed in endoneurial endothelial cells of the sural nerve. In addition, abnormal vimentin-immunoreactive deposition was seen in fibroblasts and capillaries of the skin. The present results suggest that high doses of n-hexane cause a diffuse IF disorder in a similar form as occurs in giant axonal neuropathy. CONCLUSION: IF aggregation can occur in non-neuronal cells in humans, as has been previously proved in in vitro experiments. The presence of IF accumulations in Schwann cells, as seen in the ultrastructural examination, together with the electrophysiological findings showing an early decrease of sensory and motor nerve conduction velocities, suggests the existence of a primary myelinic disorder associated with axonal damage.

Adhesives↗
PubMed1994

[Dysphagia as the only manifestation of inclusion body myositis].

We report a 72-year-old woman with dysphagia as the only manifestation of inclusion body myositis (IBM). Although electrophysiological examination revealed subclinical abnormalities in limb muscles, dysphagia was the only symptom 4 years after the onset of the disease. Muscle biopsy showed rimmed vacuoles and cytoplasmic inclusions together with lymphocytic inflammation. IBM must be included in the differential diagnosis of isolated dysphagia.

Aged↗
PubMed1993

GH secretion status in myotonic dystrophy.

Frequent endocrine alterations and abnormal growth hormone (GH) secretion have been reported in myotonic dystrophy (MD). To evaluate GH secretion status in MD, GH response to 100 micrograms of growth hormone releasing hormone (GHRH) with or without pyridostigmine pretreatment and its relation with insulin-induced hypoglycemia was investigated in MD patients and compared with normal controls. The mean peak plasma GH response to GHRH was 27.8 +/- 19.2 micrograms/l normal subjects and 11.4 +/- 8.7 micrograms/l in MD patients. In five of seven patients GH reached a mean peak of 12.6 +/- 4.2 micrograms/l after insulin-induced hypoglycemia, compared with 5 +/- 2.8 micrograms/l after GHRH. Conversely, in two patients GH reached a peak of 16.1 and 32 micrograms/l after GHRH, and only 2.5 and 5.3, respectively, after hypoglycemia. Pretreatment with pyridostigmine in nine patients tested potentiated GHRH-induced GH release with a peak of 17.6 +/- 12.5 micrograms/l, compared with 10.05 +/- 6.7 micrograms/l after GHRH alone; IGF-I levels were normal in all patients.

Adolescent↗
PubMed1993

[Centronuclear myopathy].

A 19 year-old patient, second child of a non consanguinous marriage, was evaluated because of the patient progressive mental retardation and muscular weakness from infancy. Six maternal uncles non had died of unknown cause in the first year of life, and his mother had 3 spontaneous miscarriages; the two sisters of the patient were healthy. Clinical examination demonstrated a severe mental retardation, discrete proximal muscular weakness as well as universal areflexia. The muscular enzymes were elevated and the electrophysiologic study showed normal neurographic parameters and abundant generalized spontaneous activity with a mixed type contraction pattern. Histologic examination of the muscle was diagnosed as myopathy with atrophy of type I fibers and central nuclei and upon cranial nuclear magnetic resonance (NMR) images suggestive of perinatal hypoxic-ischemic encephalopathy were observed.

Adult↗
PubMed1992

[Lumbosacral polyradiculomyelitis caused by cytomegalovirus in a patient with acquired immunodeficiency syndrome].

The case of a HIV positive patient with lumbosacral polyradiculomyelitis by cytomegalovirus (PLS-CMV) is presented. The patient was a homosexual male receiving maintainance treatment with foscarnet for previous corioretinitis by CMV who consulted for paraparesia and sphincter disorders of a 3 week evolution. Neutrophilic pleocytosis and high levels of glucose and proteins were observed on LCR and CMV isolated discarding other entities. The LCR normalized upon treatment with gancyclovir although serious residual paraparesia persisted. PLS-CMV is an infrequent entity of typical clinic and liquoral characteristics. Recognition of the same is important since favorable response depends on early anti-CMV treatment.

Acquired Immunodeficiency Syndrome↗
PubMed1990

[Stiff man syndrome (Moersch and Woltman syndrome). Description of two cases].

This study reports two female patients with progressive muscular rigidity beginning to the paravertebral and pelvic muscles associated with muscular spasms. The electromyography showed continuous muscular activity originated at the central nervous system. In both cases we observed the complete rigid man syndrome. Complementary explorations including thyroid hormonal study, ceruloplasmin, electroencephalogram, cranial computerized tomography, and magnetic resonance were normal. Auditive evoked potentials evidenced a prolongation of the interlatency III-V, suggesting pathologic involvement of the encephalic trunk. In one patient an artificial reservoir was inserted to instill baclofen into the meningeal space and produced a clinical improvement. The actual status of this rare illness is reviewed.

Electromyography↗