Distribution of eosinophils in the gastrointestinal tract of children with no organic disease.

BACKGROUND: This study aimed to assess the eosinophil (eos) density of the mucosa of the gastrointestinal (GI) tract in children undergoing endoscopic procedures following an extensive workup, without diagnosis of an organic disease. METHODS: Biopsies from GI endoscopies performed at 3 major children's hospitals (Athens, Madrid and Rome), between January 2012 and June 2018, were evaluated by a single pathologist in each center. Peak eos counts were expressed /high power field and /mm2. Other histological abnormalities were also reported. RESULTS: A total of 111 children (median age 11 years; 48 boys) underwent upper endoscopy (333 biopsies), while 44 (median age 12; 25 boys) underwent ileocolonoscopy (262 biopsies). The median (interquartile range) eos/mm2 were as follows: esophagus 0 (0-0); stomach 0 (0-3); duodenum 22 (13-29); ileum 29 (19-46); cecum 39 (25-71); ascending colon 24 (20-41); transverse colon 27 (21-57); descending colon 21 (13-27); sigmoid colon 22 (13-30); and rectum 10 (6-22). Geographical variations in GI tissue eos counts were found amongst the participating centers, but the causative factors need further evaluation. Functional GI disorders according to the Rome IV criteria were diagnosed in 73 children (37 boys, median age 13 years). No differences were found between children with or without functional GI disorder diagnosis, with regard to eos density in the GI tract. CONCLUSION: The reported peak counts of GI tissue eos in children with no organic diseases provide normative values that may be useful in the evaluation of children with GI symptoms suggestive of eosinophilic GI disorders.

Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene.

AIM: To describe and evaluate the clinical and molecular findings of patients with incontinentia pigmenti (IP) in Greece. METHODS: We examined 12 female patients, initially aged 2 weeks to 7 months with clinical diagnosis of IP. Standard tests were performed including skin biopsies and ocular, dental and neurologic examinations. Molecular analysis was carried out on 8 out of 12 cases. RESULTS: The initial clinical examination was stage 1 (vesicular lesions), stage 2 (verrucous lesions) or stage 3 (hyperpigmented linear lesions of the trunk/limbs). At the final clinical examination, 10 of our patients had typical vesicular, verrucous or mixed hyper-hypopigmented skin lesions which had persisted from the neonatal period; seven had delayed dentition or conical teeth; two had developmental delay; one had microcephaly and strabismus and two had scarring alopecia. In seven patients, deletion of exons 4-10 of the IKBKG gene was found. In one patient, skewed X-inactivation was demonstrated and a novel mutation p.Gln332X was found. The mothers' DNA analyses were all normal. CONCLUSION: In our sample, all the cases were sporadic and the diagnosis of IP was based mainly on clinical features and confirmed with skin histology. Molecular analysis was used to find the mutations, in some cases to confirm diagnosis and to identify the carriers, which are crucial for prenatal and preimplantation diagnosis.

Acute gastrointestinal graft-versus-host disease in pediatric patients: serum albumin on day 5 from initiation of therapy correlates with nonrelapse mortality and overall survival.

The aim of the present study was to identify factors associated with the risk of development of gastrointestinal acute graft-versus-host disease (GI-aGVHD), as well as to evaluate the impact of various baseline parameters on response to treatment, nonrelapse mortality (NRM), and overall survival (OS) in pediatric patients with GI-aGVHD after allogeneic hematopoietic stem cell transplantation (allo-SCT). We retrospectively analyzed 300 pediatric patients who underwent allo-SCT from HLA-matched related or volunteer unrelated donors in our institution. GI tract involvement was observed in 46 out of 133 patients with aGVHD grade II-IV. Severe aGVHD (grade III-IV) was more frequently observed among patients with GI-aGVHD in comparison with patients without GI involvement (P < .001). Treatment with steroids resulted in durable responses in 22/46 patients; 14 additional patients responded to salvage therapy, whereas 10 were refractory to all treatments administered. Using Cox regression analysis, we observed that serum albumin level ≥ 3 mg/dL on day 5 after the initiation of therapy with steroids was statistically significantly associated with decreased hazard of NRM and improved OS (P = .021 and P = .026, respectively). In our study, serum albumin level, early (+ day 5) after the onset of steroids in patients with GI-aGVHD, was a predictor of treatment outcome. Prospective randomized trials need to be performed to verify the predictive significance of serum albumin and the need for early intensification of immunosuppressive treatment.