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Biomedical subjects

M Gambarara

Publications and source records attributed to M Gambarara.

35 records · Page 2Linked to original sources
PubMed1998

[The heart of anorexic adolescents].

BACKGROUND: Anorexia nervosa (AN) is often associated with cardiac changes, such as thinning of the left ventricle (LV), reduction of LV mass, abnormalities of mitral valve function and systolic dysfunction. Some authors have reported QT interval prolongation and sudden death in these patients. METHODS: We studied 23 adolescent females, aged 14.7 +/- 2 years (mean +/- SD), with AN. Serum electrolytes, proteins and albumin were measured in all patients. Electrocardiogram, Doppler-echocardiogram and chest X-rays were also performed on the same day. Eighteen patients were also examined via indirect calorimetry (difference from basal metabolic rate) and 21 underwent dosage of thyroid hormones. RESULTS: The patients, who were of normal height (159 +/- 7.4 cm), were underweight (36 +/- 4.8 kg) and had a body mass index (BMI) of less than 19 (14.2 +/- 1.3). Serum electrolytes, proteins, albumin and chest X-rays were substantially normal in all patients; 74% of them showed reduction of FT3. The calorimetry was reduced (-27.1 +/- 10.6%) with the exception of one patient. Resting heart rate was 58 +/- 12 bpm. We found normal values for PR, QRS, QT (0.41 +/- 0.03 s1/2) and QTc intervals (0.40 +/- 0.03 s1/2) and QT dispersion (40.9 +/- 14.1 ms). Echocardiography showed a reduction in the dimensions of the interventricular septum (52% of patients), LV free wall (61%), left atrium (31%) and LV mass (61%). Fractional shortening was normal in all but one patient. In 61% of cases, there was mild or moderate pericardial effusion that was clinically silent and inversely related to BMI (r = -0.38, p 0.08, ns), to calorimetry (r = -0.56, p < 0.0055), to FT3 (r = -0.53, p < 0.05) and to sodium concentration (r = -0.43, p 0.04). CONCLUSIONS: Teen-agers with AN often show a reduction in LV thickness and mass, as well as clinically silent pericardial effusion that is inversely related to BMI, calorimetry, FT3 and sodium serum concentrations. We did not find any prolongation of QTc interval or of QT dispersion.

Adolescent↗
PubMed1988

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The clinical history of both patients was characterized by severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. The children died of bronchopneumonia at age 2 and 3 years, respectively. Immunological investigations showed, in one sib studied, skin anergy to recall antigens, profound depletion of T4+ lymphocytes, and serum IgG2 deficiency. Necropsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. The distinctive features of these sibs appear to define a previously undescribed hereditary MCA/MR syndrome. The clinical and pathological findings seem to indicate, as a pathogenetic mechanism, a defect involving the embryonic organization of the central nervous system and of the immune system.

Abnormalities, Multiple↗
PubMed1987

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.

Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively. The aim of the investigation was to assess the effect of supplementing citrulline, arginine, or ornithine (2 mmol/kg per day) while on a protein-restricted diet. The peroral supplementation was carried out during 2 wk for each amino acid. While ammonia in plasma was not increased the supply of citrulline or arginine led to a reduction of plasma glutamine compared to ornithine supplement or to no supplement (control period). Plasmatic ornithine was raised in all instances. Homocitrulline excretion was lower with all additions compared to the control period. Adding citrulline to the diet (in contrast to supplementing arginine) did not lower tubular lysine reabsorption. A lowered creatine excretion was found which could be normalized by arginine or citrulline. The data are compatible with a product inhibition of arginino-glycine transamidinase suggesting that the enzyme is not located in the mitochondrial matrix in man. Citrulline supplement combined with a protein-restricted diet appears to allow a normal development. The additional finding of a factor VII and X deficiency in one of the patient and reports in the literature of this association in two other patients with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome suggest that the genetic defect leading to the syndrome might be located on chromosome 13.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

[IgA-class antigliadin antibodies in the screening and follow-up of celiac disease patients].

IgA antigliadin antibodies (IgA-AGA) have been determined with an enzyme immunoassay in 2.141 pediatric patients. High levels of IgA were found in 98% of 53 celiac patients (1st biopsy), in 81% of 16 celiac patients after gluten challenge, while high levels of these antibodies were not found in 200 patients on gluten-free diet. Moreover high levels of IgA-AGA were found in 29% of 48 patients with normal jejunal biopsy and in 4% of 1.824 patients with gastrointestinal problems other than celiac disease. Our results confirm the data report in literature about the sensibility and the specificity of the IgA-AGA dosage as a screening test for celiac disease, but the possibility of false pathological and false normal values confirms the intestinal biopsy, as the main procedure for the diagnosis of celiac disease.

Antibodies↗
PubMedDate not supplied

[Allergy to cow's milk proteins: the sensitivity of specific and nonspecific laboratory tests].

Authors report their experience of a population of 308 children affected by cow's milk allergy who presented gastrointestinal, respiratory and cutaneous symptoms. Diagnosis was based on challenge with cow's milk proteins and on laboratory specific tests (RAST, prick test) and non specific ones (PRIST, eosinophil count, 1-h xylose test, occult blood in the stools), following ESPGAN criteria. The patients were subdivided in 3 groups: a) patients with prevalent gastrointestinal symptoms; b) patients with prevalent cutaneous symptoms and c) patients with both, gastrointestinal and cutaneous symptoms. The sensitivity of the employed tests was evaluated either in the whole patient population or in the there group according to symptoms. Our data show a high sensitivity of the RAST for cow's milk (70%) versus a lower sensitivity of prick test (53%) when the whole patients population was considered. Moreover statistically important differences of the sensitivity of the various tests were found when the three groups of patients were considered, as well as when such a comparison was done in patients subdivided according to age (more or less than 6 months). Finally the concord between RAST and prick test was evaluated in the three groups.

Adolescent↗