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Eosinophilic esophagitis (EoE) is a chronic immune-mediated relapsing disease caused by eosinophilic infiltration of the esophageal mucosa which is normally lacking these cells. EoE belongs to the group of the so called Eosinophilic Gastrointestinal Disorders (EGIDs). From a rare and unusual disease, EoE has become an emerging entity and in recent years its incidence and prevalence have increased all over the world, also in children. The pathogenesis is very complex and still not completely clear. Esophageal disfunction symptoms (e.g. dysphagia and food impaction) represent the typical manifestation of EoE and this condition could be difficult to recognize, more in pediatric age than in adults. Moreover, symptoms can often overlap with those of gastro-esophageal reflux disease (GERD), leading to a delayed diagnosis. EoE is often related to atopy and an allergological evaluation is recommended. Untreated EoE could provoke complications such as strictures, esophageal rings, narrowing of the esophagus. Diagnosis is confirmed by the demonstration in biopsy specimens obtained through upper endoscopy of eosinophilic inflammation (>15 for high powered field) of the esophageal mucosa and other histological features. Other tests could be useful not specifically for the diagnosis, but for the characterization of the subtype of EoE. Since EoE incidence and knowledge about physiopathology and natural history have increased, the goal of the review is to provide some helpful tools for the correct management in pediatric age together with an overview about epidemiology, pathogenesis, clinical, diagnosis and treatment of the disease.
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http://dx.doi.org/10.23750/abm.v89i8-S.7866 | DOI Listing |
Arch Pediatr
December 2024
General Pediatric Department, Versailles hospital, Le Chesnay, France.
Scurvy is now considered to be a rare disease in European countries, even among children, but it still exists. We report the case of an 18-month-old boy who was initially hospitalized for a walking disorder and ultimately diagnosed with scurvy. Radiographs were compatible with rickets, but biological analysis ruled out this diagnosis.
View Article and Find Full Text PDFPediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Psychology, University of Toronto, Toronto, Ontario, Canada.
Introduction: Women with early bilateral salpingo-oophorectomy (BSO) have greater Alzheimer's disease (AD) risk than women with spontaneous menopause (SM), but the pathway toward this risk is understudied. Considering associative memory deficits may reflect early signs of AD, we studied how BSO affected brain activity underlying associative memory.
Methods: Early midlife women with BSO (with and without 17β-estradiol therapy [ET]) and age-matched controls (AMCs) with intact ovaries completed a face-name associative memory task during functional magnetic resonance imaging.
Neuro Endocrinol Lett
December 2024
Sichuan Provincial Center for Mental Health, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Background: Severe or recurring major depression is associated with increased adverse childhood experiences (ACEs), heightened atherogenicity, and immune-linked neurotoxicity (INT). Nevertheless, the interconnections among these variables in outpatient major depression (OMDD) have yet to be determined. We aim to determine the correlations among INT, atherogenicity, and ACEs in OMDD patients compared to normal controls.
View Article and Find Full Text PDFNeuro Endocrinol Lett
December 2024
Department of Psychiatry, Faculty of Medicine and Dentistry, University Palacky Olomouc, University Hospital, Olomouc, Czech Republic.
Introduction: PAdverse Childhood Experiences (ACEs) are associated with an increased risk of mental health issues in general, but their relationship with panic disorder (PD) and obsessive-compulsive disorder (OCD) has received less attention compared to borderline personality disorder (BPD). Dissociative experiences are significant predictors of increased symptoms, reduced treatment adherence, and poor prognosis in several psychiatric conditions, including PD, OCD, and BPD; still, their impact remains underexplored. This part of the study focuses on the overall efficiency of psychotherapeutic programs on treatment-resistant patients diagnosed with PD, OCD, and BPD (or combined), as well as the relationship between ACEs, dissociation rates, and treatment results.
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