A new case of incomplete Down syndrome with partial trisomy 21.
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Biomedical subjects
Publications and source records attributed to M Ceccarelli.
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We report results of a preliminary molecular dynamics study of a 1-palmitoyl-2-oleoylphosphatidylcholine (POPC) bilayer at low hydration (5% in weight). Our results suggest a gel phase structure where the oleic chain is bent recalling the crystalline oleic acid structure. We have also found a discontinuity in the volume/temperature curve which might be related to the gel to liquid crystal phase transition in POPC.
Although the definitive cause of infantile hypertrophic pyloric stenosis is unknown, it's probable that several predisposing risk factors would be associated with the condition. We analysed some perinatal factors in relation to the incidence of infantile hypertrophic pyloric stenosis among children observed during the period 1970-90. We examined 61 infants with surgically confirmed hypertrophic pyloric stenosis and, as controls, 61 healty children comparable for age. In every child we studied: sex, birth rank, pregnancy and delivery, birthweight, parental age, type of feeding, familial history of hypertrophic pyloric stenosis and of atopy, seasonal variation in incidence, AB0 and Rh blood phenotypes. In the 61 infants with hypertrophic pyloric stenosis, the incidence of three factors (male sex, primogeniture and feeding with artificial milk) was significantly higher than that in the controls. We conclude that infantile hypertrophic pyloric stenosis probably has a particular genetic basis, but perinatal factors are responsible for the rising of the condition. However the true aetiology remains to be elucidated.
Immune mechanisms have been invoked to explain coeliac disease and associations between this and other immunologically mediated diseases have been described. A direct relationship proposed is that coeliac disease may be associated with a range of autoimmune disease through the formation of immune complexes in the small intestine. It's more probable a common origin in an inherited predisposition to hypersensitive immuno responses to extrinsic antigens or auto-antigens. The association between coeliac disease and particular histocompatibility antigens was recognised.
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IgG antibodies to beta-lactoglobulin (ABLG) were assayed in children with coeliac disease (20 at gluten-containing diet and 35 at gluten-free diet) and in 28 "gastrointestinal" controls. Pathologic levels of ABLG were found in 16 patients with active coeliac disease (80%). In these patients the ABLG mean value was significantly higher than that found in the controls (p less than 0.001). In coeliac subjects at gluten-free diet, normal levels of ABLG were found after 6 months of diet. The presence of ABLG in the majority of untreated coeliac patients may reflect an increased permeability of the intestinal mucosa during the active stage of the disease.
Using an enzyme-linked immunosorbent assay (ELISA), the authors studied the sera of 116 patients with short stature of undetermined cause and no gastrointestinal symptoms, for the levels of IgG and IgA antigliadin antibodies (AGA). AGA of IgG and IgA isotypes were positive in 8 patients (group 1); only AGA IgG were positive in 7 patients (group 2). Both groups with positive AGA had subsequent duodenal biopsy that showed a villous atrophy in all children in group 1 and in two in group 2. These patients showed a significant acceleration in height velocity after the introduction of a gluten-free diet.
The clinical aspects of coeliac disease before and after anti-gliadin antibodies (AGA) assessment in clinical practice, referring to personal experience (107 cases in the period 1976-1988) are described. AGA determination has executed by two different ELISA methods. The diagnosis of coeliac disease in the period 1976-1986 has been made according to ESPGAN criteria, while in the last two years following the recent SIP advice. After 1987 with the introduction of AGA assay, the number of diagnosis/year of coeliac disease has increased three times in respect of the period 1976-1986. We have observed a more marked increase of the late beginning forms (from 2.8 to 10 diagnosis/year) in respect of the early beginning ones (from 3.7 to 7.5 diagnosis/year) and of the atypical forms (from 0.7 to 9 diagnosis/year) in respect of the typical ones (from 5.8 to 8.5 diagnosis/year). According to these data we think that prevalence of coeliac disease in our country is probably underestimated. AGA determination is at time most effective mean to make a screening of coeliac disease in the population. According to us the largest employment of this method in the next years could take a most exact estimate of the coeliac disease prevalence in our country.
The study of bile acids in the newborn permits to the AA. to point out that the beginning of the feeding does not influence the "physiologic cholestasis" of the first days of life. Neonatal cholestasis is the expression of the immaturity of bile acids synthesis and hepatic and intestinal carriage, which is not correlated with the maternal conditions. Furthermore, the AA. discuss about the analogy between cholestasis and "physiologic hyperbilirubinemia", from which it differs for the longer time. In fact, the maturation of the enterohepatic circle occurs very slowly under possible dietetic factors influences.