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F García-Bragado

Publications and source records attributed to F García-Bragado.

At least 19 recordsLinked to original sources
PubMed2006

[Fatal familiar insomnia: clinical, neurophysiological and histopathological study of two cases].

INTRODUCTION: Family prion diseases are caused by mutations in the gene coding the prion protein (PrP), originating an altered isoform called prion. One of the most uncommon is the fatal familial insomnia (FFI), an entity characterized by sleep disorders and that is associated to a mutation in codon 178. METHODS: We have studied two male patients, aged 43 and 49 years respectively, from the same family. RESULTS: The most significant symptoms were sleep disorders with agitation, fractionated sleep, snoring and daytime sleepiness. The evolution was brief, the patient dying at a few months of the clinical debut. Sleep registries showed destructuration with total loss of the normal cycle of the phases and great decrease of the sleep spindles and K complexes in both cases. The polygraphy showed tachycardia and apnea pauses. In the molecular study, a mutation in the codon 178 was detected, both being methionine/methionine homozygotes at position 129. The most outstanding neuropathological abnormalities were located in the thalamus with gliosis and neuronal loss of anterior and dorsomedial ventral nuclei and also intense neuronal loss in olive of the first case. CONCLUSIONS: This study describes two new cases of FFI with genotype D178N-129M and short course classical phenotype. The polysomnography is essential in the diagnostic strategy of this disease whose neuropathological substrate is the thalamic alterations and of the inferior olive. Molecular biology permits an exact diagnosis of FFI although there is still controversy on the phenotypal variability and physiopathogenic mechanisms.

Adult↗
PubMed2001

Efficacy and safety of oral and early-switch therapy for community-acquired pneumonia: a randomized controlled trial.

PURPOSE: We sought to determine the safety, efficacy, and cost of oral therapy for patients with community-acquired pneumonia. In patients with nonsevere pneumonia, conventional (parenteral) treatment was compared with the oral route; in patients with severe pneumonia, conventional treatment was compared with early switch from parenteral to oral therapy. SUBJECTS AND METHODS: We randomly assigned 85 hospitalized patients with nonsevere pneumonia to one of two groups: 41 received oral antimicrobials from admission, and 44 received parenteral antimicrobials until they had been afebrile for 72 hours before switching to oral treatment. We randomly assigned 103 patients with severe pneumonia who had initially been treated with parenteral antimicrobials to one of two groups: 48 were switched to oral therapy after 48 hours of treatment (early switch), and 55 received a full 10-day course of parenteral antibiotics. RESULTS: Among patients with nonsevere pneumonia, there were no deaths in the oral treatment group, and one death (2%) in the parenteral treatment group (95% confidence interval [CI] for between-group [oral minus parenteral] difference: -7% to 2%, P = 0.3). The time to resolution of morbidity was < or =5 days in 34 (83%) patients in the oral treatment group and 39 (88%) patients in the parenteral treatment group (P = 0.5); there were treatment failures in 4 (10%) patients in the oral treatment group and 14 (32%) patients in the parenteral treatment group (P = 0.02). Among patients with severe pneumonia, there was one (2%) death in the early-switch group and no deaths in the full course of parenteral antibiotics groups (95% CI for between-group [early switch vs. full course] difference: -2% to 6%, P = 0.5). The time to resolution of morbidity was < or =5 days in 38 (79%) patients in the early-switch group and 41 (75%) in the full-course group (P = 0.3). There were 12 (25%) treatment failures in the early-switch group and 13 (24%) in the full-course group (P = 0.9). There were fewer adverse events in the oral and early-switch groups, primarily due to lower rates of infusion-related phlebitis. Significant cost savings, mainly due to a shorter hospitalization, occurred among patients with severe pneumonia in the early-switch group. CONCLUSION: Inpatients with nonsevere community-acquired pneumonia can be effectively and safely treated with oral antimicrobials from the time of admission, whereas those with severe pneumonia can be treated with early-switch therapy.

Administration, Oral↗
PubMed2000

[Andersen syndrome. Description of a case] .

A 17 year-old man, with periodic muscular weakness since the age of 6 years, is presented. The episodes of periodic paralysis were of variable duration, from 1 to 3 days, and were induced by physical exercise or by stress. Weakness was generalised, although predominant in anterior compartment of the legs, with foot drop. Interictal neurological examination was absolutely normal. He showed dysmorphic features, with micrognatia. Cardiac examination revealed continuous arrhythmia. Basal EKG and 24 hours EKG-Holter confirmed the existence of abundant ventricular extrasystoles, with episodes of ventricular tachycardia, without clinical manifestations. Echocardiogram was normal. Ictal and interictal ENG-EMG, and muscle and nerve biopsies were normal. Serum potassium levels during the episodes ranged from 3 to 3.6 mEq/l (N: 3.5-4.5 mEq/l), being normal interictally (4-5 mEq/l). Oral administration of potassium did not prevent the development of episodic weakness. He had no familial history of similar symptoms. This association of periodic paralysis, cardiac arrhythmia and dysmorphic features correspond to a rare entity named Andersen's syndrome.

Abnormalities, Multiple↗
PubMed1999

[Prospective study of 198 community acquired pneumonias in a general hospital].

BACKGROUND: Pneumonia is a common medical problem with a significant mortality and morbidity. It is the leading infectious disease in hospital admissions. We conducted a one year prospective study of the patients over 14 years of age that had been diagnosed of community-acquired pneumonia in our institution. The objective was to determinate the clinical characteristics and the aetiological agents of pneumonia in our geographic area and to know which factors are related with the evolution and prognosis of this disease. PATIENTS AND METHODS: A medical team evaluated and followed-up all the patients diagnosed of community-acquired pneumonia. Epidemiological, clinical, radiological and laboratory data were recorded. An attempt to obtain an aetiological diagnosis was done by means of sputum, blood cultures and serologic studies at admission and between third and fourth week later. In individualized patients invasive techniques were performed. We classified the patients in five groups according to previous criteria defined in the guidelines of our hospital based in age, the presence of an underlying disease and the severity in the initial presentation. RESULTS: 274 patients received an initial diagnosis of pneumonia, in 76 (28%) this initial diagnosis was not confirmed. The mean age of the remaining 198 was 55 years. 62% were men. 40% had an identifiable microbiological etiology. The main causal microorganism was Streptococcus pneumoniae followed by Mycoplasma pneumoniae. Gram stain and sputum culture were the most useful laboratory tests for the aetiological diagnosis. Blood cultures and serological test had a lower efficiency. There was no relationship between the clinical presentation, typical or atypical pneumonia, and the causal microorganism. Complications developed in 11% of the patients and the mortality rate was of 3%. CONCLUSIONS: There was a high rate of initial erroneous diagnoses of pneumonia. The epidemiological, clinical and roentgenographic characteristics were similar to other studies conducted in our country with a lower number of microbiological agents identified. Patients who were admitted at hospital only because their age or the presence of chronic disease had a good evolution. In this series patients with severe presentation also had a good prognosis. It would be interesting to investigate about which parameters could be useful as indicators of prognosis and evolution at initial presentation of pneumonia.

Adolescent↗
PubMed1998

[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].

Linkage studies have confirmed the existence of clinical an genetic heterogeneity among the muscular dystrophies due to adhalin deficiency. We present the clinical, histological and genetic characteristics in a case of primary adhalinopathy (deficiency of the 50 kD subunit or alpha-sarcoglycan). It was a 19 years-old woman, born of non consanguineous parents, who shows a long evolution myopathy with onset before age 7, a severe evolution and becoming wheelchair bound at 10 years. She showed evident calf pseudohypertrophy and serum creatinkinase (CK) levels were elevated (40-180 times the standard level). The histological pattern showed a destructed fascicular architecture in agreement with severe muscular dystrophy, normal staining with anti-dystrophin monoclonal antibodies and abnormal staining pattern with anti-adhalin antibodies. The molecular study evidenced an homozygous point mutation (Arg-->Cys) at position 77 of exon 3 of the gene coding for the 50 kD subunit of the alpha-sarcoglycan complex localised in chromosome 17. In the light of this case, we suggest a revision of the diagnostic orientation in the muscular dystrophies and we review the new taxonomy of the limb-girdle muscular dystrophies, remarking the clinical signs which could indicate a given genetic locus.

Adult↗
PubMed1996

The relation between thyroid function and nutritional status in HIV-infected patients.

OBJECTIVE: The effects of human immunodeficiency virus (HIV) infection on thyroid function have been reported in only a few studies with discrepant results. The aim of this study was to assess the relation between nutritional status and thyroid function in HIV infected patients. DESIGN: Prospective, cross-sectional study. SETTING: A 500-bed teaching and referral hospital serving a population of 450,000. PATIENTS: Seventy-five consecutive HIV infected patients between 21 and 40 years of age (mean 31.8 +/- 0.9 years). MEASUREMENTS: Nutritional status was evaluated using the body mass index (BMI), triceps skinfold thickness (TSF), mid-arm muscle circumference (MAMC), and serum albumin concentration (SA). Hormone assays for serum T4, free thyroxine index (FTI), T3, reverse triiodothyronine (rT3), thyroxine-binding globulin (TBG), TSH and simultaneous CD4 lymphocyte counts were determined in all patients. RESULTS: Clinical stage was significantly related to nutritional status (P = 0.0001 for BMI, P = 0.0002 MAMC). The more poorly nourished groups had low mean serum T3 and rT3 levels, particularly for muscular (P = 0.0001 for T3 and P = 0.0076 for rT3) and visceral (P = 0.00001 for T3 and P = 0.0021 for rT3) protein compartments. Multivariate analysis showed that two factors, SA and MAMC, correlated significantly and independently with serum T3 and rT3. CONCLUSIONS: A close relation exists between serum thyroid hormone levels and nutritional status in HIV infected patients. These patients are probably euthyroid and the abnormal findings in the thyroid function tests are thus a reflection of the severity of illness.

Adult↗
PubMed1995

Chronic alcoholism decreases neuronal nuclear size in the human entorhinal cortex.

The effect of chronic alcoholism in the neuronal nuclear area (karyometry) of the lateral entorhinal cortex at three rostro-caudal levels (rostral, intermediate and caudal) has been studied in 19 alcoholic subjects and in 15 aged-matched controls. Cases were distributed into three groups according to their age (29-44, 45-60 and 61-70 years of age). In the second group (45-60 years), the nuclear size in layers II and III of the caudal entorhinal cortex showed a very significant decrease compared to controls. The first group (29-44 years) also showed a significant reduction in size, while the third group presented the smallest differences. The presence of cirrhosis in the alcoholic group did not vary the observed results. Thus, chronic alcoholism significantly decreases the nuclear size in layers II and III of the lateral entorhinal cortex, and thus the entorhinal output to the hippocampus may be altered in alcoholism.

Adult↗
PubMed1995

[Pneumocystis carinii pneumonia. Complications of cytotoxic treatment in a systemic vasculitis].

We report a patient with systemic vasculitis who developed a Pneumocystis carinii pneumonia whilst he was on steroid n cyclophosphamide treatment. Severe lymphopenia was noted with a CD4 count of 0.023 x10(9)/1 with no evidence of Human Immunodeficiency virus infection. A literature review of recent reports about this particular topic reveals that the development of lymphopenia in patients under immunosuppressor treatment is a fact of a paramount importance. In that sense, a periodic monitorization of both the granulocyte and the lymphocyte count is widely recommended in patients under cytotoxic treatment. A dose adjustment or even suppression of drug administration would be necessary if severe lymphopenia was observed.

Aged↗