[Trisomy 13-15: presentation of a case].
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Biomedical subjects
Publications and source records attributed to R Lazzari.
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Unlike the adult form, childhood celiac disease has not hitherto been associated with a particular endoscopic pattern. The upper gastrointestinal tracts of 46 children with various stages of celiac disease and of 27 children with conditions other than celiac disease were examined by an endoscopist unaware of the clinical details of the patients. The scalloped configuration of duodenal folds was shown to have a sensitivity of 88% and a specificity of 87% in the diagnosis of subtotal villus atrophy. Attention to this finding, described here for the first time in childhood celiac disease, may be helpful for the diagnosis of this condition.
A group of 81 teenage coeliac patients were recently followed to monitor their compliance with a gluten free diet and also to correlate this with: their general wellbeing, height and weight, antigliadin and antiendomisyal antibody levels and jejunal mucosa patterns. Fifty two patients (64.1%) were on a strict gluten free diet; 18 (22.3%) admitted an occasional gluten intake; 11 (13.6%) were on a normal diet. Symptoms were more frequent in non-compliers that in compliers. There was no appreciable difference between the groups in regard to height and body-mass index, but patients on a normal diet were lighter than the others. Small bowel biopsy was performed on 18 patients with various histological findings. Antigliadin antibodies and antiendomysium antibodies were good indications of a patient's gluten free diet compliance and mucosal damage.
It has been known that there is a more than fortuitous association between coeliac disease and a whole range of autoimmune conditions. At present there are only very small numbers of cases reported with childhood coeliac disease and thyroiditis. The Authors refer to a seven year old girl with documented coeliac disease who developed an autoimmune thyroiditis with glandular hypofunction, an unusual feature still rarely described.
Gastroesophageal reflux (GER) is a very common event in childhood. Therefore we must use an exact and nontraumatizing test to differentiate between physiologic and pathologic conditions. Sonography appears to be a methodology endowed with these particularities. The aim of our study was to evaluate the diagnostic efficacy of Ultrasound (US) in comparison with a very precise test: the pH monitoring. We studied, by both methodologies, 76 children with suspected GER. Compared to pH-metry data, sonography showed a diagnostic sensitivity of 88,46% and a specificity of 58,33%. Therefore US appears to be an efficacious and innocuous test both in the screening and in the follow-up of patients with GER.
The protozoan Cryptosporidium has been described in many cases of acute self-limiting diarrhoea in immunocompetent patients and of more protracted or life threatening diarrhoea in immunocompromised patients. We found the parasite in the stools of a child with chronic diarrhoea and without deficiency of immunity. The test for common causes of chronic diarrhoea were normal. The end of the clinical manifestation and the normalization of the test to identify Cryptosporidium in the stools, after a specific therapy, prove the presence of a casual relation between the patient's symptomatology and the finding of the protozoan in his stools.
Hodgkin's lymphoma (HL) simulating acute cholestatic hepatitis is a very unusual clinical picture. Massive liver infiltration with conspicuous acute cholestatic symptoms, in fact, suggests more aggressive systemic diseases such as non Hodgkin's lymphomas or acute leukemias. Nevertheless, we observed two cases of mixed cellularity H.L. showing all the symptoms of acute cholestatic hepatitis, without systemic lymph nodes involvement. Diagnosis was achieved by liver biopsy. Hepatic histology showed extensive portal and periportal Hodgkin's infiltrations, loss of periportal liver cells and variable damage to small bile ducts. In both cases bone marrow biopsy showed granulomatous infiltrations. Liver failure appeared to be the most frequent terminal complication of cholestatic H.L. The course of the disease was rapid, and cytostatic therapy scarcely effective. In our opinion, the cholestatic variety of H.L. should be considered in the differential diagnosis of all cases of acute or chronic cholestatic hepatitis, irrespectively of the presence of systemic lymph nodes enlargement.
Antibodies to gliadin, detected by immunofluorescence (IFL-AGA) and ELISA (ELISA-AGA), have been found in 68 of 71 (96%) sera from children with active celiac disease. AGA of IgA class were confined to celiac disease on normal diet and after gluten challenge, as all the antibodies, found in children on gluten free diet (40%) and in control gastroenterological diseases (20%), were of IgG class. Sera from 175 first-degree relatives of our celiacs were also screened for AGA. IFL-AGA were positive in 13 (7%) and ELISA-AGA in 27 cases (15%). Antibodies were of IgA class in 13 relatives (7%). A celiac's asymptomatic sister, selected for jejunal biopsy only on the basis of IgA AGA positivity, showed subtotal villous atrophy. Although AGA cannot replace jejunal biopsy in the diagnosis of celiac disease, they can be regarded as useful tools in the screening of gluten sensitive enteropathy. Moreover, as a positive IgA AGA test is closely related to the active phases of celiac disease, their research can be useful both to evaluate the effect of gluten free diet and to establish when a new biopsy is appropriate after gluten challenge.
The authors report the case of a three year old patient who presented with coeliac disease simulating an Hirschsprung's (constipation and megacolon). She underwent surgery many times and this was due to an initial diagnosis of aganglionic megacolon. Moreover the relationship between constipation and megacolon is discussed and some pathogenetic interpretations of megacolon, a common observation in patient with coeliac disease, are presented.
The trial has been carried out on 33 treated Parkinsonian patients and 14 healthy controls. A series of psychometric tests were employed in order to show a possible intellectual deterioration in Parkinsonian patients. Bender's test showed greater motor-perceptive deterioration in Parkinsonian patients respect to control, the Wechsler-Bellevue Intelligence Scale evidenced in patients significant deterioration of mnesic and psychomotor capacity. When considering drug treatments patients undergoing combined treatment or anti-cholinergics alone obtained worse results in all tests made whilst patients on L-Dopa alone obtained the best results.
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