Now showing 1 - 10 of 15
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    Coagulopathy as initial manifestation of concomitant celiac disease and cystic fibrosis: a case report
    (Springer Science and Business Media LLC, 2011-03-24)
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    Celiac disease and cystic fibrosis have many common manifestations, such as malabsorption, steatorrhea and growth failure, and were for many years recognized as one clinical entity. Since their recognition as two separate diseases, their co-existence in a patient has been described sporadically; around 20 cases have been described in the literature. Taking into consideration the incidences of the two diseases, the chance of them occurring together is one in 2,000,000 in the general population.
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    First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
    (Serbian Medical Society, 2017)
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    Tesarova, Marketa
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    Zeman, Jiři
    <jats:p>Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene are presently reported on the Human Genome Mutation Database. To date, no molecular genetic defects of HT1 in Macedonia have been described. Case outline. A female infant two and a half months old presented with failure to thrive, anemia, edemas, and severe coagulation disturbances. The diagnosis of HT1 was based on high levels of serum ?-fetoprotein, increased serum tyrosine, and positive succinylacetone in urine. Nitisinone treatment with tyrosine-restriction diet was immediately introduced. The patient, currently aged five years, has normal growth, psychomotor development, and no focal lesions on abdominal MRI. A screening of the FAH gene revealed two heterozygous mutations ? c.[1A>G];[784T>A]. The mutation c.784T>A is a novel one (p.Trp262Arg), and was predicted to be the cause of the disease by an in silico analysis. Conclusion. To date, this case is the first and only child with HT1 successfully treated with nitisinone in our country. Also, this is the first report of an HT1 patient caused by the c.784T>A mutation.</jats:p>
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    Neonatal lupus erythematosus-a rare syndrome of transient autoimmunity
    (Wiley, 2022-06)
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    Janchevska, Snezhana
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    Jovanovska, Jana
    Neonatal lupus erythematosus (NLE) is a rare autoimmune disease due to a passive transfer of maternal autoantibodies to the fetus. The clinical spectrum is variable and includes skin lesions, cardiac, hematological, or hepatobiliary disorders. We report an NLE case presenting with skin eruption that was initially considered as tinea.
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    Diagnosis and management of eosinophilic esophagitis in children: An update from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)
    (Wiley, 2024-08)
    Amil-Dias, Jorge
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    Oliva, Salvatore
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    Papadopoulou, Alexandra
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    Thomson, Mike
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    Gutiérrez-Junquera, Carolina
    Eosinophilic esophagitis (EoE) is a chronic inflammatory disease of the esophagus characterized by symptoms of esophageal dysfunction and histologically by predominantly eosinophilic infiltration of the squamous epithelium. European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) published a guideline in 2014; however, the rapid evolution of knowledge about pathophysiology, diagnostic criteria, and therapeutic options have made an update necessary.
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    Functional Gastrointestinal Disorders in Mediterranean Countries According to Rome IV Criteria
    (2022-03-01)
    Strisciuglio, Caterina
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    Cenni, Sabrina
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    Serra, Maria Rosaria
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    Dolce, Pasquale
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    Kolacek, Sanja
    The aim of this study was to assess the prevalence of functional gastrointestinal disorders (FGIDs) in children of Mediterranean area using Rome IV criteria and to compare the prevalence of FGIDs using Rome IV and Rome III criteria.
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    Collodion phenotype remains a challenge for neonatologists: A rare case of self-healing collodion baby
    (Wiley, 2022-07)
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    Janchevska, Snezana
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    We report a unique case of self-healing collodion baby (CB) that was successfully managed despite the risk of potentially serious complications. Self-healing CB is a rare and distinct outcome of collodion phenotype occurring in approximately 10% of the cases. The outcome depends on the initial assessment and adequate multidisciplinary approach.
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    Prevalence of Functional Gastrointestinal Disorders in Children and Adolescents in the Mediterranean Region of Europe
    (Elsevier BV, 2018)
    Scarpato, Elena
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    Kolacek, Sanja
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    Jojkic-Pavkov, Danijela
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    Konjik, Vlatka
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    Živković, Nataša
    Little is known about the prevalence of functional gastrointestinal disorders (FGIDs) in children from the Mediterranean area of Europe. We aimed to assess the prevalence of FGIDs in children and adolescents in this region.
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    Diet and Pediatric Functional Gastrointestinal Disorders in Mediterranean Countries
    (MDPI AG, 2022-06-02)
    Strisciuglio, Caterina
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    Cenni, Sabrina
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    Serra, Maria Rosaria
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    Dolce, Pasquale
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    Kolacek, Sanja
    Background: The increased intake of FODMAP (fermentable oligosaccharides, disaccharides, monosaccharides, and polyol) rich foods has been suggested as a possible trigger of functional gastrointestinal disorders (FGIDs). Despite the high FODMAP content, the Mediterranean diet (MD) appears to have beneficial effects on health. Our aim was to evaluate whether the prevalence of FGIDs in different Mediterranean countries may be influenced by FODMAP consumption and adherence to the MD. Methods: A school-based, cross-sectional, multicenter study was performed in six countries in the Mediterranean area: Croatia, Greece, Israel, Italy, Macedonia, and Serbia. Subjects 4-18 years were examined in relation to their eating habits and the presence of FGIDs, using Rome IV criteria, 3-day food diaries and Mediterranean Diet Quality Index in Children and Adolescents (KIDMED) questionnaires. Results: We enrolled 1972 subjects between 4 and 9 years old (Group A), and 2450 subjects between 10 and 18 years old (Group B). The overall prevalence of FGIDs was 16% in Group A and 26% in Group B. FODMAP intake was significantly different among countries for both age groups. In both groups, no significant association was found between FGIDs and FODMAPs. Adherence to the MD in all countries was intermediate, except for Serbia, where it was low. In both groups, we found a statistically significant association between FGIDs and the KIDMED score (Group A: OR = 0.83, p < 0.001; Group B: OR = 0.93, p = 0.005). Moreover, a significant association was found between the KIDMED score and functional constipation (Group A: OR = 0.89, p = 0.008; Group B: OR = 0.93, p = 0.010) and postprandial distress syndrome (Group A: OR = 0.86, p = 0.027; Group B: OR = 0.88, p = 0.004). Conclusions: Our data suggest that the prevalence of FGIDs in the Mediterranean area is not related to FODMAP consumption, whereas adherence to the MD seems to have a protective effect.
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    Diagnosis and management of eosinophilic esophagitis in children: An update from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)
    (Wiley, 2024-08)
    Amil-Dias, Jorge
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    Oliva, Salvatore
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    Papadopoulou, Alexandra
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    Thomson, Mike
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    Gutiérrez-Junquera, Carolina
    Eosinophilic esophagitis (EoE) is a chronic inflammatory disease of the esophagus characterized by symptoms of esophageal dysfunction and histologically by predominantly eosinophilic infiltration of the squamous epithelium. European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) published a guideline in 2014; however, the rapid evolution of knowledge about pathophysiology, diagnostic criteria, and therapeutic options have made an update necessary.