Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Background And Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.

Methods: A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22].

Variability of anti-human transglutaminase testing in celiac disease across Mediterranean countries.

Aim: To verify the precision and accuracy of transglutaminase antibodies (TGA) assays across Mediterranean countries.

Methods: This study involved 8 referral centres for celiac disease (CD) in 7 Mediterranean countries. A central laboratory prepared 8 kits of 7 blinded and randomized serum samples, with a titrated amount of Human TGA IgA.

Diagnosis of celiac disease and applicability of ESPGHAN guidelines in Mediterranean countries: a real life prospective study.

Background: We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines can be applied in children from countries with different resources.

Methods: A real life prospective study was performed in 14 centres of 13 different Mediterranean countries. Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities.

A point-of-care test for facing the burden of undiagnosed celiac disease in the Mediterranean area: a pragmatic design study.

Background: We aimed at assessing the factors that can influence results of the dissemination of an already validated, new generation commercial Point-of-Care Test (POCT) for detecting celiac disease (CD), in the Mediterranean area, when used in settings where it was designed to be administered, especially in countries with poor resources.

Methods: Pragmatic study design. Family pediatricians at their offices in Italy, nurses and pediatricians in Slovenia and Turkey at pediatricians', schools and university primary care centers looked for CD in 3,559 (1-14 yrs), 1,480 (14-23 yrs) and 771 (1-18 yrs) asymptomatic subjects, respectively.

Celiac disease in the Mediterranean area.

Background: The World Gastroenterology Organization recommends developing national guidelines for the diagnosis of Celiac Disease (CD): hence a profile of the diagnosis of CD in each country is required. We aim to describe a cross-sectional picture of the clinical features and diagnostic facilities in 16 countries of the Mediterranean basin. Since a new ESPGHAN diagnostic protocol was recently published, our secondary aim is to estimate how many cases in the same area could be identified without a small intestinal biopsy.

Celiac disease in Tunisian children: a second screening study using a "new generation" rapid test.

This work aims to estimate celiac disease prevalence in school-children in the island of Djerba and assess rapid method feasibility for screening. We screened 2064 schoolchildren by a rapid method to detect IgA anti-tissue transglutaminase and IgA deficiency. Children with positive results were tested for IgA anti-transglutaminase and anti-endomysium by conventional tests.

Is the rapid whole blood test useful for diagnosis and monitoring celiac disease in children?

Aim: To evaluate a new whole blood rapid test for the detection of IgA anti-transglutaminase (ATG) for diagnosis and diet survey of celiac disease (CD).

Methods: 57 children, 20 of them were CD patients on a gluten-free diet and 37 were under suspicion of CD were enrolled. IgAATG was detected by the conventional ELISA test and the new rapid whole blood test.

HLA class II polymorphism in children with coeliac disease in Tunisia: is there any influence on clinical manifestation?

Objective: To elucidate the HLA DRB1, DQB1 and DQA1 polymorphism in Tunisian children with typical form of coeliac disease (CD) in comparison with those from mass screening (atypical and silent CD).

Materials And Methods: We recruited three groups: group I: 40 CD children diagnosed according to the ESPGHAN criteria. group II: 40 healthy controls matched with sex, age and geographic origin.

[A novel mutation in infant hypophophatasia: a case report].

Background: Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified.

Aim: The authors describe a Tunisian case having a mutation that has not been described up to now.

Prevalence of celiac disease in Tunisia: mass-screening study in schoolchildren.

Background: Celiac disease is reported to be common among North Africans, particularly Tunisians. Nevertheless, the prevalence of coeliac disease in the general population has not been previously investigated.

Objective: This study aimed to determine the prevalence of celiac disease among children in Tunisia and to describe the clinical profile of the screened patients.

[Deficient expression of leukocyte adhesion proteins. A new Tunisian case].

Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins.

[Pulmonary alveolar proteinosis in two siblings. A case report].

Pulmonary alveolar proteinosis (PAP) is a rare disorder in children. This report describes two siblings in whom PAP developed during infancy (three years for the boy and four years two months for the girl). The girl was admitted for chronic respiratory distress.

[Acute leukoencephalitis in infant treated by high-dose corticosteroid. A case report].

The authors report a case of acute post infectious leukoencephalitis observed in a tow-years and a half children admitted to our hospital for fiver with suddent condition deterioration, obnibulation, coma and paralysis of the 6th and 7th cranial nerve. Cerebrospinal fluid study showed lymphocytosis with negative culture. Head magnetic resonance imaging demonstrated diffuse high signals over the white matter on T2 weighted images so the diagnosis was confirmed.

Clinical and genetic heterogeneity in Desbuquois dysplasia.

Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a "Swedish key" appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients with Desbuquois dysplasia can be divided in two groups, depending on whether hand changes include an extra ossification center distal to the second metacarpal and whether phalangeal dislocations are present or absent. We have recently reported linkage of a Desbuquois dysplasia gene to 17q25.