Unusual HLA typing in celiac disease.
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Celiac Disease↗
Biomedical subjects
M Bonamico
Publications and source records attributed to M Bonamico.
A new morphological classification during follow-up in patients with celiac disease: a three-dimensional observation by scanning electron microscopy.
The structure and ultrastructure of the villi of small intestinal mucosa was examined in 237 duodenal or jejunal biopsies taken from children with active celiac disease and during gluten-free diet. All biopsies were processed for light and scanning electron microscopy. Conventional histology showed four different morphological aspects: total and subtotal villous atrophy in patients on unrestricted diet, partial villous atrophy and normal mucosa during gluten-free diet. Scanning electron microscopy demonstrated that in active celiac disease the severity of the intestinal lesions was related to individual vulnerability to gluten. Our results showed that during dietary treatment the process of mucosal healing was constant and strictly time-dependent. Furthermore, the ultrastructural examination has been relevant in evaluating the evolution of the villous regeneration. In this study a classification regarding the healing process of the small intestinal mucosa correlated with the time of start of dietary therapy is proposed.
Adolescent↗
Helicobacter pylori infection in families of Helicobacter pylori-positive children.
Relatives of Helicobacter pylori positive patients show a higher incidence of Helicobacter pylori infection than the general population, probably due to relapses and/or reinfections between members of the family. Aim of this study was to evaluate the prevalence of the infection in 121 relatives of 41 children with Helicobacter pylori positive gastritis. Specific IgG antibodies (ELISA) were evaluated, and bacteria on gastric biopsy specimens were investigated by urease-rapid test, culture test and GIEMSA or acridine orange staining. Of the eighty-two relatives, 68% were antibody positive. Thirty-five agreed to undergo endoscopy. With the exception of one brother, all subjects (97%) were found to be infected by Helicobacter pylori. Two symptomatic relatives, with normal antibody titres, were submitted to endoscopy and found to be colonized by Helicobacter pylori. The present data confirm the high prevalence of infection within families and appear to demonstrate the usefulness of endoscopy for all subjects showing positive antibody titres as well as for symptomatic relatives, even if serologically negative, to confirm the presence of any pathological conditions and reduce the risk of relapses within families.
Antibodies, Anti-Idiotypic↗
Comparison of body weight, body height and body fatness of Italian children aged 6-12 years with American standards.
World Health Organization has suggested that American standards may be adopted for use in countries where no local reference data are available. Since no locally accepted growth standard is available in Italy, this study investigated if American growth curves for weight, height and triceps skinfold (TSF) provide reliable values for Italian children. Weight, height and TSF were measured in 1273 Italian children (boys: 656, girls: 617) ranging in age from 6 to 12 years and their percentiles were compared with that provided by NCHS for American children. Despite some minor differences, it is shown that American standards can be used safely in Italian children aged from 6 to 12 years.
Anthropometry↗
Nutritional epidemiology during school age.
Nutritional research covers different fields, two of which are of particular interest: evaluation of the nutritional status, and epidemiology of food consumption. For many years, studies in these fields have been promoted by our research group, which bases its methodology on anthropometric measurements, bioelectrical impedance measurements, and check of nutritional habits. Our studies involve more than 2500 subjects from pre-school age to adolescence. This work represents the basis for an educational approach with the ultimate aim of improving life styles. One of our first studies on school meals during nursery period and composition and application of "dietary tables" showed inadequacies of energy intakes and macronutrients distribution. In another study, aimed to evaluate the intake of soluble sugars, more than 2/3 of participating school children were found to consume more than 70 g of soluble sugars per day, while 10% of them exceeded 150 g/day. Results of the following study, in which special attention was given to salted and sweet snacks, showed that snacks can account for 34% of the total daily energy intake; although its adequacy, the energy distribution per macronutrients showed a clear imbalance. As for adolescence, a very critical age, the evaluation of weight self-perception revealed that only 62% of them had a correct perception of their weight. This research also devoted special attention to home prepared breakfast, which is consumed by the vast majority of enrolled subjects, although only rarely it is nutritionally adequate. A double age-related trend could thus be drawn: on one side, there is the tendency of the "overweight status" to decrease (from a starting-point of about 20%); on the other side, this tendency is unfortunately compensated by the increasing trend of "obesity" (which almost reaches 30%).
Adolescent↗
Celiac disease in two sisters with a mother from Cape Verde Island, Africa: a clinical and genetic study.
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Africa, Western↗
Helicobacter pylori infection in children with antral gastrin cell hyperfunction.
Antral gastrin cell hyperfunction (AGCH) is a rare syndrome characterized by persistent hypergastrinemia and important peptic symptoms in the absence of a gastrin-producing tumor. The pathogenesis of AGCH is still unknown and debated. Helicobacter pylori (Hp) infection has been reported as a possible cause of sustained hypergastrinemia. To assess the relevance of Hp infection in pediatric AGCH patients, Hp status, G cell function, acid secretion, and antral G and D cell populations were investigated in six children presenting with gastrointestinal bleeding of unknown origin, sideropenic anemia, and variable abdominal symptoms. All patients had moderate high basal gastrinemia with abnormally increased peak values after meals and elevated values of basal acid output (BAO), maximal acid output (MAO), and pentagastrin-stimulated acid output (PAO). Circulating pepsinogen I was also significantly increased. Three children had Hp infection, as assessed by enzyme-linked immunosorbent assay, urease test, and histology. Endoscopy showed duodenal erosions in three children, with ulcer in two Hp-positive cases. At histology, moderate gastritis was observed only in the three Hp-positive cases. In all patients, quantitative assessment of antral gastrin and somatostatin cells gave significantly elevated G cell counts; D cells were at the lower reference limit and the G/D cell ratio was significantly elevated. These data indicated a diagnosis of AGCH, possibly due to the elevated G/D cell ratio, and suggest HP infection as an overlapping factor complicating the clinical picture in some cases.
Adolescent↗
Coeliac disease, enamel defects and HLA typing.
The presence of dental enamel defects in coeliac disease and their relation to hypocalcaemia or a particular HLA class in 82 Italian children with coeliac disease was studied. Demarcated opacities or hypoplasia were detected in 23 subjects (group 1) while minimal or no dental lesions were found in the remaining 59 patients (group 2); in 189 normal controls, enamel lesions were significantly less frequent than in patients with coeliac disease (14.8% versus 28.0%; p < 0.005). No statistically significant differences were found for age at diagnosis and calcium concentrations between groups 1 and 2. Regression analysis showed a correlation between age at diagnosis and number of teeth with enamel defects. In our patients, the presence of HLA DR3 antigen significantly increased the risk of dental lesions, while genotype DR5,7 seemed to protect against enamel defects. A logistic regression analysis of the variables age, serum calcium concentrations, number of affected teeth, type of enamel defect and DR antigens showed that only DR antigens discriminated coeliac disease patients with from those without enamel defects.
Adolescent↗
[High incidence of Helicobacter pylori infections in an endoscopic pediatric patient series].
We evaluated in children with abdominal complaints the prevalence of Helicobacter pylori gastric and duodenal colonization and the histological features of gastric and duodenal mucosae. Fifty patients, aged 1-17 years, underwent upper endoscopy for recurrent abdominal pain, vomiting and/or gastrointestinal bleeding. With serological, bacteriological and/or histological methods twenty-eight children were demonstrated to be Helicobacter pylori-positive. No statistically significant differences were observed with regard to age, sex and indication to perform endoscopy. Eighty-two percent of Helicobacter pylori-positive patients had gastritis and/or duodenitis. The Helicobacter pylori-positive children had higher Helicobacter pylori specific IgG levels than the Helicobacter pylori-negative ones (p < 0.001). No statistically significant differences were found between Helicobacter pylori-positive and Helicobacter pylori-negative subjects, for gastrin and pepsinogen I. Since the frequency of Helicobacter pylori infection in children with gastrointestinal complaints is high, in patients undergoing upper endoscopy, the sistematical examination of bioptic samples for bacteriological and histologic procedures is of great importance.
Abdominal Pain↗
Different dose effect of HLA-DQ alpha beta heterodimers in insulin-dependent diabetes mellitus and celiac disease susceptibility.
To compare the quantitative effect of the DQ alpha beta heterodimers DQ alpha 52 Arg+, beta 57 Asp- and DQ alpha 1*0501, beta 1*0201 on susceptibility to IDDM and CD, we characterized, at the genomic level, the DQ alpha 52 and DQ beta 57 residues of 50 IDDM Italian patients observed in Rome. The results were compared with those of a previous study concerning the oligotyping of DQ dimers in a group of CD children belonging to the same population. Our data confirm that both diseases are primarily associated with HLA-DQ alpha beta heterodimers, but the distributions of the respective susceptible DQA1 and DQB1 alleles in the two diseases were different. In fact, the highest risk of IDDM is for subjects alpha SS, beta SS that could express, by either cis- or trans-association, four susceptible heterodimers and decreases in proportion to the number of these; in regard to CD, the highest risk was found for individuals who carried only one predisposing heterodimer.
Alleles↗
Prostaglandin E2 in gastric mucosa of children with Helicobacter pylori gastritis: relation to thickness of mucus gel layer.
AIMS: To evaluate the changes in mucus gel layer thickness and prostaglandin E2 (PGE2) content caused by Helicobacter pylori infection in the antral mucosa of children: to assess whether decreased mucus gel thickness is related to PGE2 production. METHODS: Antral biopsy specimens were taken at endoscopy from 153 children. H pylori gastritis was evident in 45 and normal mucosa in 59. The other 49 children were studied one month after antibiotic treatment that eradicated the infection in 37 of them had been stopped. One antral specimen was immersed in ice-cold saline, put under an inverse microscope with an eyepiece graticule. Mucus gel thickness was measured and then the processed for histological examination; another specimen was weighed and processed for in vitro prostanoid generation. RESULTS: Mucus gel layer thickness was significantly decreased in children with H pylori gastritis (90 (SD) 29) microns v 120 (58) microns in controls, p < 0.01) but returned to control values after H pylori had been eradicated. PGE2 generation was significantly increased in children with H pylori gastritis (1022 (811) ng/g v 641 (473) ng/g in controls, p < 0.01). One month after treatment PGE2 generation significantly decreased in children without infection (880 (534), p < 0.01), but was still high where infection persisted. A significant inverse correlation was found between PGE2 generation and mucus gel layer thickness (p < 0.05). CONCLUSIONS: These data suggest that H pylori damages the mucus gel layer, and that the gastric mucosa increases generation of PGE2 in response to back diffusion of acid and pepsin.
Adolescent↗
[Ascaridiasis: a rare cause of recurrent abdominal pain. Report of a clinical case documented by ultrastructural study of the intestinal mucosa].
The case of a six-year-old girl suffering from recurrent abdominal pain is reported. On the basis of the laboratory tests and a number of other clinical investigations, the diagnosis of ascaridiasis was made. At scanning electron microscopy the ultrastructural study of the bioptic fragments obtained during endoscopy showed peculiar lesions of the gastric and duodenal mucosa. We speculate that this unusual picture may be due to the ascaris. These lesions, described for the first time in the literature to our knowledge, were represented by the loss of the apical portion of some cells. Differential diagnosis of recurrent abdominal pain is discussed.
Abdominal Pain↗
[Prevalence of lactose malabsorption in Roman school children. A H2 breath test study using a cow's milk].
The aim of this study was to evaluate the prevalence of lactose malabsorption in a population of 75 (43 males, 32 females) apparently healthy school-children using the H2 breath test with cow's milk. The children, ranging in age from 8 years and 6 months to 15 years and 2 months (mean: 11 years, 7 months) were divided into 2 age groups: Group I (no. = 26): age < 11 years and Group II (no. = 49): age > 11 years. After on overnight fasting, lasting at least 8 hours, samples of expired air were collected at 0 time and at 30-min intervals following the administration of 250 ml cow's milk for a total time of 3 hours. The H2 breath concentration was then measured by gas chromatography (Micro-Lyzer Quintron Instruments Company mod. 12). A net rise of more than 20 ppm H2 was considered as lactose malabsorption. Subjects with symptoms such as excessive flatulence, abdominal pain, or diarrhoea, were considered as lactose intolerant. Two-hundred and 50 ml of cow's milk (12 g of lactose) was considered a more physiological vehicle than the traditional lactose aqueous solution. The examined children, all on free diet, showed a fasting alveolar from 0 to 43 ppm (mean +/- SD = 7.9 +/- 7.6). Sixty-six children out of 70 (93.3%), who completed the test had a total absorption of lactose. Two out of 4 children with lactose malabsorption originated from areas (East Africa and Central America), where a high incidence of this metabolic disorder is a characteristic findings.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
A study of Italian pediatric celiac disease patients confirms that the primary HLA association is to the DQ(alpha 1*0501, beta 1*0201) heterodimer.
Celiac disease (CD) has been recently reported to be primarily associated with the DQ(alpha 1*0501, beta 1*0201) heterodimer encoded in cis on DR3 haplotype and in trans in DR5,7 heterozygous individuals. The high incidence of DR5,7 heterozygotes, reflecting the high frequency of the DR5 allele in Italy, makes the analysis of the Italian CD patients critical. Polymerase chain reaction-amplified DNA from 50 CD patients and 50 controls, serologically typed for DR and DQw antigens, was hybridized with five DQA1-specific oligonucleotide probes detecting DQA1*0101 + 0102 + 0103, DQA1*0201, DQA1*0301 + 0302, DQA1*0401 + 0501 + 0601, and DQA1*0501 and a DQB1-sequence-specific oligonucleotide probe recognizing DQB1*0201 allele. As expected by the DR-DQ disequilibria, DQA1*0201 [62% in patients versus 26% in controls, relative risk (RR) = 5] and DQA1*0501 (96% versus 56%, RR = 19) show positive association with the disease. Of CD patients, 92% (50% DR3 and 42% DR5,7) compared to 18% of the controls carry both DQA1*0501 and DQB1*0201 alleles, so that the combination confers an RR of 52, higher than both the risks of the single alleles (DQA1*0501 RR = 19, DQB1*0201 RR = 30), confirming the primary role of the dimer in determining genetic predisposition to CD both in DR3 and in DR5,7 subjects.
Base Sequence↗
Short stature as the primary manifestation of monosymptomatic celiac disease.
It is generally accepted that celiac disease (CD) must always be taken into consideration when dealing with children manifesting growth failure. It is therefore important to have laboratory tests capable of detecting patients who should undergo intestinal biopsy. Auxological and endocrine parameters, bone age, some nutritional indices (hemoglobin, serum iron, calcium, total protein, and albumin), and anti-gliadin antibodies (AGA) IgA and IgG and 1-h blood xylose levels were evaluated in 49 children of short stature. On the basis of the intestinal biopsy, 29 (59.1%) patients affected by CD were found. When patients with atrophic and normal intestinal mucosa were compared, significant differences in the frequency of pathological values of hemoglobinemia, serum iron, AGA, and 1-h blood xylose levels were found, whereas no difference was observed in the levels of serum calcium, total protein, and albumin. Bone age was delayed in 81% of the celiac patients and in 47% of the controls. In particular, AGAs were found in 27 of 29 celiac patients and in three control subjects who showed a low level of one of the two antibodies. The results of our study demonstrate that AGA (IgA and IgG), together with 1-h blood xylose, hemoglobinemia, serum iron, and family history of CD determination, are extremely useful for screening patients of short stature. This type of screening cannot, however, replace the intestinal biopsy because such tests cannot be completely sensitive and specific.
Body Constitution↗
Oligotyping of Italian celiac patients with the 11th International Histocompatibility Workshop reagents.
Oligotyping for HLA-DRB1, DQA1 and DQB1 specificities has been performed on PCR-amplified DNA from 55 Italian celiac children, living in Rome, and 50 blood donors. 52.6% of CD patients were DR3;DQA1*0501;DQB1*0201-positive versus 14% of controls (RR = 6.85) and 34.5% were DR5,7;DQA1*DQB1*0201-positive versus 2% of controls (RR = 25.86). 7 patients (12.7%) were negative for the DQA1*0501/B1*0201 dimer: 3 of them were DR4 (5.4%) and the others typed as DR1,5; 1,7; 5,7 and w6,7. No patient was negative for both DQA1*0501 and DQB1*0201 alleles.
Celiac Disease↗
Diabetes-related autoantibodies do appear in children with coeliac disease.
Humoral immune factors related to type 1 diabetes have been investigated in children with coeliac disease. Anti-insulin (IAAb), immunoglobulin (alpha IgAb), islet cell (ICA) and glucagon autoantibodies were examined in 15 children with coeliac disease at diagnosis (group 1), in 15 children with coeliac disease following a gluten-free diet (group 2) and in 30 control patients (groups 3 and 4). IAAb were present in 27% of group 1 and in 20% of group 2 patients and alpha IgAb were significantly increased in group 1 and 2 patients; two patients in group 2 were positive for ICA; none of the coeliac disease patients were positive for anti-glucagon antibodies. The levels of anti-gliadin antibodies in group 1 were positively correlated with those of alpha IgAb. Coeliac disease-related HLA antigens were not correlated with antibody presence. The presence of diabetes-related humoral immune factors in coeliac disease raises the question as to whether or not they are predictive of subclinical pancreatic damage or whether they are simply indicators of a more general autoimmune diathesis.
Adolescent↗
Scanning electron microscopy of the small intestine during gluten-challenge in celiac disease.
The celiac disease syndrome is characterized by structural and ultrastructural alterations of the small intestine mucosa. According to criteria by European Society of Paediatric Gastroenterology and Nutrition, the conclusive diagnosis of celiac disease in children depends on the demonstration of histological relapse of the mucosa after reintroduction of gluten in the diet, as this syndrome is a permanent condition of gluten intolerance. Under these diseased conditions, the structure of the intestinal villi has been studied by light microscopy; morphological alterations were revealed only when the gluten challenge induced a clinical relapse. Scanning electron microscopy analyses of the intestinal mucosa in celiac diseased patients showed a strikingly uniform destruction of the villi with changes in their dimensions and arrangement. At high magnification the enterocytes were irregular in size and shape with a decrease and disruption of the glycocalyx. Reductions in length and density of microvilli were also clearly identified. Although these scanning electron microscopy findings could not demonstrate a relationship between the degrees of mucosal atrophy and the duration of the gluten challenge, they nevertheless revealed early stages of fine villous alterations that cannot be detected by the presently employed low resolution light microscopic techniques.
Autopsy↗