Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign course, usually with spontaneous regression of the tumors.

[Study of prevalence of celiac disease in children with type 1 diabetes mellitus: result of 10 years of follow-up].

Objective: To estimate the prevalence of celiac disease (CD) in children and adolescents with type 1 diabetes mellitus (T1DM) treated in the Children's Division of Endocrinology, at the Universidade Federal de Minas Gerais Hospital das Clínicas.

Subjects And Methods: Children and adolescents diagnosed with T1DM, aged 0 to 18 year, were included in this study performed from March 1999 to April 2009. All patients were screened for CD at their first visit and, again, annually.

Prevalence of serological markers for celiac disease (IgA and IgG class antigliadin antibodies and IgA class antiendomysium antibodies) in patients with autoimmune rheumatologic diseases in Belo Horizonte, MG, Brazil.

Context: Patients with autoimmune rheumatologic conditions and celiac disease tend to have a variety of autoantibodies, many of which have no clear pathogenic role. The literature contains frequent reports of celiac disease being more prevalent in patients with rheumatologic diseases, although this remains controversial.

Objectives: To investigate the prevalence of positive serum tests for celiac disease, particularly IgA and IgG antigliadin (AGA) antibodies and IgA antiendomysium antibodies (EmA) in patients with autoimmune rheumatologic diseases.

[Discrepancy of celiac disease presentation in monozygotic twins].

Context: The celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. Despite the genetic characteristic of the disease, studies show discrepancy of 30% in its presentation in monozygotic twins.

Objective: To present two pairs of monozygotic confirmed by genetic study and discordant for presentation of celiac disease.

Determining IgA and IgG antigliadin, IgA antitransglutaminase, and antiendomysial antibodies in monkey esophagus and in umbilical cord for diagnosis of celiac disease in developing countries.

Objectives: To assess the efficiency of determining IgA and IgG antigliadin antibodies (IgA- and IgG-AGA, respectively), antitransglutaminase (TgA), and anti-endomysial antibodies (AEA) in human umbilical cord (CO) and monkey esophagus for diagnosis of celiac disease; to determine the correlation between serological markers and celiac disease.

Patients And Methods: A total of 400 patients were divided in 3 groups: group 1 with 37 patients with celiac disease, group 2 with 208 patients with no enteropathies, and group 3 with 155 patients with other enteropathies. IgA-AGA, IgG-AGA, and TgA were assessed using enzyme-linked immunosorbent assay, whereas AEA was evaluated by indirect immunofluorescence.

Prevalence of celiac disease in Brazilian children with type 1 diabetes mellitus.

Objective: Although the relationship between celiac disease and diabetes mellitus type 1 is well recognized, there are no studies of this association in Brazil. This study aims to identify the prevalence of celiac disease in a group of children with diabetes mellitus type 1 undergoing treatment in the pediatric endocrinology division of a university hospital in Minas Gerais, Brazil.

Methods: Immunoglobulin (Ig)A and IgG antigliadin antibodies (enzyme-linked immunoadsorbent assay) were measured in blood collected from 236 children and adolescents with diabetes mellitus type 1.