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Celiac disease (CD) is an underdiagnosed disease occurring in different clinical forms. This study aimed to determine the prevalence of CD among blood donors from Ribeirão Preto, Brazil, and to study some demographic characteristics of celiac patients. Blood samples from 3000 blood donors were tested for the presence of tissue transglutaminase antibody and positive samples were tested for endomysial antibody. Donors positive to both tests were referred for clinical evaluation and for a jejunal biopsy. Twenty-four samples were moderately/strongly positive for transglutaminase, with 9 of them being endomysial negative and 15 positive. Of the 13 biopsies obtained from 12 females and 1 male, 1 was classified as Marsh grade IV, 4 as grade III, 2 as grade II, 4 as grade I, and 2 as grade 0. Estimated prevalence was therefore 1:273 (0.33%; 95% CI, 0.127 to 0.539). The 1:273 estimated prevalence of CD detected indicates that the disease is not rare in Brazil. The frequency was higher among females and among individuals of European descent, with a significantly higher frequency for a family history of digestive tract cancer or epilepsy.

Abstract. Capillaria hepatica is a helminth that may cause an extremely rare condition of parasitic hepatitis. Only 29 cases have been published, 2 of them in Brazil. We report here 3 cases of children in Brazil with massive hepatic capillariasis who presented the characteristic triad of this type of infection, i.e., persistent fever, hepatomegaly, and eosinophilia. The diagnosis was made by liver biopsy. All children responded well after treatment with thiabendazole (case 1), albendazole (case 3), and albendazole in combination with a corticoid (case 2). Case 1 has been followedup for 24 years, an event not previously reported in the literature.

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Aims: To examine the light and electron microscopic features of appendices removed at the time of surgical reduction of intussusception in children; and to confirm that the viral inclusions seen in some of them are due to adenovirus. Methods: A series of 39 appendices from cases of intussusception and 15 control appendices were reviewed. Light microscopic examination of haematoxylin and eosin stained sections was performed on all of them and one appendix with large numbers of inclusions was examined by electron microscopy. Non-isotopic in situ hybridisation using a biotinylated DNA probe was carried out on sections of appendix from 30 of the cases of intussusception and from the 15 controls. Results: Light microscopic examination showed viral inclusions in 19 of the appendices from the cases of intussusception and in none of the controls. Electron microscopic examination showed virus particles with the typical features of adenovirus. Most of the appendices with viral inclusions in the haematoxylin and eosin stained sections also contained adenovirus DNA as shown by in situ hybridisation. Conclusions: Viral inclusions seen in appendices from cases of intussusception are caused by adenovirus. Adenovirus DNA was not demonstrable in appendices from cases of intussusception without viral inclusions and the aetiological factors involved in intussusception in these children remain unknown. (7 Clin Pathol 1993;46:154-158) Intussusception of the bowel may occur at any age but is particularly common in babies and young children under the age of 2 years. Any part of the intestine may be affected but ileocolic intussusceptions are the most common. In adults usually a lesion such as a polyp or tumour acts as a lead point, but in children only rarely is such an abnormality found.' It has therefore been suggested that hyperplasia of the lymphoid tissue around the terminal ileum is the cause of the intussusception. The association between intussusception and adenovirus infection was first suggested by Strang,2 and following this three different studies showed that adenovirus could be recovered from 50% or more of children with intussusception, significantly more than in controls.-5 More recently a study by Nicolas et al compared the incidence of adenovirus and rotavirus in 64 children with surgically confirmed intussusception.6 Adenovirus was found in 25 of the 64 cases (39%). Serotypes 1 and 2 were most common (10 cases each), followed by type 5 (three cases) and types 3 and 4 (one case each).Yunis et al performed a histological and ultrastructural study of 682 appendices of which 30 were from cases of ileocolic intussusception.7 These 30 cases were examined electron miroscopically. They described two types of intranuclear changes seen on light microscopy as presumptive evidence of adenovirus infection, namely eosinophilic nuclear inclusion bodies and "smudge cells", in which the nucleus is slightly enlarged, homogeneous, and basophilic. Electron microscopic examination showed clusters of replicating viral particles...

Enamel hypoplasia is an important clinical problem commonly seen in children born to diabetic women. We aimed to characterize the enamel hypoplasia in Wistar rats born to alloxan-induced diabetes mellitus rats. Groups consisted of pregnant rats supplemented (ISDR) or not (NISDR) with insulin and controls, in which sterile saline solution was administered instead of alloxan or insulin. The mandibular incisors of one-month-old rats born to these mothers were analyzed. Whitish defective enamel was found macroscopically in both experimental groups (ISDR = 37.5%, NISDR = 33.3%) but not in the control group. Mild to severe enamel hypoplasia was observed by scanning electron microscopy (ISDR = 93.8%; NISDR = 100%, control = 4.2%). The severity of hypoplasia correlated positively with the maternal level of blood glucose. In conclusion, the intensity of enamel hypoplasia in the teeth of the litter born to alloxan-induced diabetic rats was variable and was dependent on the glycemic level of the pregnant rat.

Type V osteogenesis imperfecta (OI) presents with moderate-to-severe skeletal deformity and is characterized by hyperplastic callus formation at fracture sites and calcification of the interosseous membranes of the forearm and lower leg. The facial dysmorphism is not well characterized and has not been described in previous reports. Inheritance is autosomal dominant, although the genetic aetiology remained unknown until very recently. The aims of this study were to establish the genetic aetiology in patients with type V OI and further characterize patients with this condition, and to ascertain whether they have a similar clinical phenotype and facial dysmorphism. Three families (one mother-daughter pair and two singletons) were identified with the above features and further investigations (molecular genetic analysis and skin biopsy including electron microscopy, histology and collagen species analysis) were performed. Accurate phenotyping of patients with type V OI was performed. PCR amplification was performed using the Sheffield Diagnostic Genetics Service pyrosequencing assay for the interferon-induced transmembrane protein-5 (IFITM5) gene. All the patients had been confirmed to have a heterozygous variant, c.[-14C>T];[=], in the 5'-UTR of the IFITM5 gene, which is located in the transcribed region of this gene. This recurrent mutation, in IFITM5, also known as bone-restricted interferon-induced transmembrane protein-like protein or BRIL, encodes a protein with a function in bone formation and plays an important role in osteoblast formation. All four patients in this study appear to have similar clinical features and facial dysmorphism, including a short, up-turned nose, a small mouth, a prominent chin and greyish-blue sclerae. Skin biopsy in one patient showed clumping of elastic fibres and normal biochemical analysis of collagen. We have been able to characterize patients with type V OI further and confirm the genetic aetiology in this distinct form of OI. Accurate phenotyping (including describing the common facial features) before investigations is important to enable the useful interpretation of genetic results and/or target-specific gene testing.

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