[Congenital myotonic dystrophy and hypoxic-ischemic encephalopathy].
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Biomedical subjects
Publications and source records attributed to E García de Frías.
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We present a case of a 7 years old girl who developed an episode of myoclonic movements and tremors after being medicated with a not well quantified amount of a pseudoephedrine/antihistamine combination. We want to highlight the potential toxicity of pseudoephedrine, usually administered as part of cold-syrup preparations which are used for symptomatic treatment of upper respiratory tract cough and congestion associated with the common cold and allergic rhinitis. Although these products are generally considered to be safe either by physicians and parents, we can't underestimate the potential adverse events and toxic effects that can occur when administering these medications.
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OBJECTIVE: The aim of the present work was to study the diagnostic value of the measurement of total serum bile acids in patients with Gilbert's syndrome as compared to the fasting test. PATIENTS AND METHODS: We have studied 17 patients, 12 males and 5 females, between the ages of 7 and 15 years. All patients showed a slight unconjugated hyperbilirubinemia (1.4 +/- 0.5 mg/dl) in the presence of repeated normal liver function test, including the total serum bile acids (7.47 +/- 2.3 mumol/l), and showed no evidence of hemolysis. A modified fasting test was performed in all of the patients. Serum bile acid levels (Merckotest, Merck Labs) and the biochemical parameters of liver function were determined before and after the fasting test. RESULTS: Our results show that to confirm the diagnosis of Gilbert's syndrome, the fasting test could be avoided in patients with increased unconjugated bilirubin levels if the basal levels of total serum bile acids are normal.
BASIS: The aim of this paper is to clinically describe a type of intoxication, mainly domestic, which still prevails today and which could even be increasing. MATERIALS AND METHODS: We present ten "toxic accidents" which involved seventeen patients, all under fifteen years of age. The diagnosis was confirmed upon obtaining a level of more than 5% carboxyhemoglobin (CO-Hb) in the blood. RESULTS: The symptomatology included: a sensation described by the patients as dizziness (53%), headache (53%), nausea and vomiting (35%). Sleepiness, fainting, or a faint-like feeling were also frequent (23%). The CO-Hb levels at admission were 28.6% +/- 9 (7.1-39.8). Pulse oximetry was performed in three patients, resulting in normal values. In all of the cases with the exception of one, several members of the family were affected simultaneously and the sources of intoxication were the boilers and/or gas heaters that were installed in the homes. The exception occurred in a home were there was a traditional coal burner. All patients were treated by inhalation of 100% oxygen. This resulted in a mean fall of the CO-Hb level in a two-hour interval to 4.6% +/- 2.1 (0-7.8). CONCLUSIONS: We emphasis the fact that since the symptoms are often nonspecific, a high level of suspicion is necessary in order to make this diagnosis. It is fundamental to keep this type of intoxication in mind when various members of a family present symptoms simultaneously and especially if it occurs during the colder time of the year. Only the determination of the CO-Hb can confirm this suspicion since gasometry and pulseoximetry are useless.
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Selective IgA deficiency is the most common primary immunodeficiency. Two types of selective IgA deficiency may be distinguished: the complete form, with IgA level less than 5 mg/dl, and the partial IgA deficiency, with level greater than 5 mg/dl but less than 2 standard deviations below the age-adjusted mean level; 50% of the cases belong to the partial type and half of them may be considered as transient clinical form. Patterns of this condition, are very unsteady: while some patients remain without any symptoms, others present recurrent respiratory and gastrointestinal tract infections. Though respiratory tract infections are the most frequent diseases, and in very few patients are associated bronchiectasis. A twelve-year-old patient with permanent partial IgA deficiency was treated for bronchiectasis in our pneumology and allergy pediatric center. The other serum immunoglobulins, IgG subclass, lymphocytes sub-populations, cell with expression of DR markers and proliferative response to PHA of peripheral blood lymphocytes, were normal. The alpha-1-antitrypsin, Mantoux test (negative), sweat chloride concentration and ciliated nasal epithelium were also normal. Pneumonia, bronchiectasis and meningitis are found in the complete IgA deficiency. The greater part of studies confirm that this severe, chronic and/or recurrent lower respiratory tract diseases are scarcely found in children with partial selective IgA deficiency, although our case states that it can be found. We think that in every patient with bronchiectasis the selective IgA deficiency complete or partial, has to be considered as an isolated etiologic factor.