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BACKGROUND AND PURPOSE: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by deletions/variants in the TCF4 gene. Seizures may be present in up to half of the patients, leading to a more severe disease burden. This study aims to analyse the electroclinical phenotype, treatment options, and long-term outcomes of epilepsy in PTHS. METHODS: A multicentre observational cohort study was performed, and the electroclinical data of PTHS individuals affected by epileptic seizures were retrospectively reviewed and analysed. RESULTS: The series includes 21 patients (11 female) with a median age at seizure onset of 2 years (range = 0.5-8). The median time of follow-up was 7.9 years (range = 2-27). Both generalized and focal epilepsies were present at the same prevalence (42.8%), whereas a minority of patients presented developmental and epileptic encephalopathies (14.4%). At the long-term follow-up, 42.8% achieved seizure freedom, whereas 42.8% developed drug-resistant epilepsy (DRE). The age at seizure onset was found to be an independent predictor for seizure outcome; in this regard, patients having seizure onset after the age of 2 years were more prone to achieve seizure freedom (odds ratio = 0.04, 95% confidence interval = 0.003-0.53; p = 0.01). During evolution, seizures tended to settle down, and even in patients with DRE, seizures tended to persist at a lower frequency and appeared to be more easily manageable over time. CONCLUSIONS: This study provides new insight into the natural history of epilepsy in PTHS. Better characterization of epileptic phenotype and prompt tailored treatment improve overall management and quality of life.
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Epilepsia , Qualidade de Vida , Criança , Pré-Escolar , Epilepsia/genética , Fácies , Feminino , Humanos , Hiperventilação , Lactente , Deficiência Intelectual , Masculino , Estudos Retrospectivos , Fator de Transcrição 4/genéticaRESUMO
AIM: Asthma and allergic rhinitis share common pathophysiological mechanisms. However, while asthma phenotypes and endotypes are defined basing on both clinical and immunological features, rhinitis classification is still based on severity and frequency of symptoms. Recently, fractional exhaled nitric oxide (FeNO) has been suggested as a possible biomarker of rhinitis to asthma development. The aim of our study was to define the prevalence of a high FeNO allergic rhinitis endotype in a paediatric population of children with allergic rhinitis in order to quantify the impact of such patients in general practice. METHODS: A total of 159 children (aged 7-16 years) with allergic rhinitis and no asthmatic symptoms were enrolled in our study. Severity assessment of rhinitis and asthma was evaluated in accordance with ARIA and GINA guidelines. All patients performed the following assessments: skin prick test (SPT), spirometry and FeNO measurement. RESULTS: FeNO was increased in 54 (33.9%) of 159 patients. No significant correlation with age, severity and frequency of rhinitis was evidenced. Positive SPT for house dust mites was related with a higher prevalence of high FeNO (P = 0.04), with no significant correlation with other sensitisations. All patients showed normal spirometric values. CONCLUSION: A possible new endotype of allergic rhinitis and lower airways inflammation showed to be significantly present in our population. The lack of correlation with allergic rhinitis severity assessment suggests that FeNO could be considered as an independent variable, possibly linked to a higher risk of asthma development in children with no lower airways symptoms and normal spirometry.
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Asma , Rinite Alérgica , Asma/diagnóstico , Asma/epidemiologia , Asma/etiologia , Teste da Fração de Óxido Nítrico Exalado , Humanos , Inflamação , Óxido Nítrico , Prevalência , Rinite Alérgica/diagnóstico , Rinite Alérgica/epidemiologiaRESUMO
The 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder in humans and is the result of a recurrent 1.5 to 2.5 Mb deletion, encompassing approximately 20-40 genes, respectively. The clinical presentation of the typical deletion includes: Velocardiofacial, Di George, Opitz G/BBB and Conotruncalanomaly face syndromes. Atypical deletions (proximal, distal or nested) are rare and characterized mainly by normal phenotype or mild intellectual disability and variable clinical features. The pathogenetic mechanisms underlying this disorder are not completely understood. Because the 22q11.2 region harbours genes coding for transcriptional factors and chromatin remodelers, in this study, we performed analysis of genome-wide DNA methylation of peripheral blood from 49 patients with 22q11.2DS using the Illumina Infinium Methylation EPIC bead chip arrays. This cohort comprises 43 typical, 2 proximal and 4 distal deletions. We demonstrated the evidence of a unique and highly specific episignature in all typical and proximal 22q11.2DS. The sensitivity and specificity of this signature was further confirmed by comparing it to over 1500 patients with other neurodevelopmental disorders with known episignatures. Mapping the 22q11.2DS DNA methylation episignature provides both novel insights into the molecular pathogenesis of this disorder and an effective tool in the molecular diagnosis of 22q11.2DS.
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Metilação de DNA , Síndrome de DiGeorge/genética , Epigenoma , Feminino , Humanos , Lactente , MasculinoRESUMO
Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5-year-old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole-exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen-magnetic resonance spectroscopy (H-MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7-related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth.
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Aciltransferases/genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Proteínas de Membrana/genética , Atrofias Olivopontocerebelares/genética , Adolescente , Adulto , Cerebelo/diagnóstico por imagem , Criança , Consanguinidade , Exoma/genética , Feminino , Homozigoto , Humanos , Deficiência Intelectual/patologia , Masculino , Atrofias Olivopontocerebelares/patologia , Linhagem , Sequenciamento do Exoma , Adulto JovemRESUMO
Traumatic abdominal wall hernias (TAWHs) can be defined as a herniation through disrupted musculature and fascia associated with blunt trauma. They are seen in approximately 1% of patients with blunt abdominal trauma. Data on TAWH in the pediatric population are very limited and principally based on case reports and a few case series. Past reports have indicated that the presence of the "handlebar sign" confers an increased risk of internal injury. Concomitant internal injuries are reported with an incidence between 25% and 70%, and occult hernias may also occur and are usually detected only by abdominal computed tomography scan and ultrasonography. The treatment of TAWH consists in surgical exploration through closure of the defect. We describe 2 cases of TAWH due to blunt impact by bicycle handlebars that occurred in our department with a brief literature review. Our objectives are to describe the variable clinical presentations and management of these events. We hope to provide a useful tool for the clinician to increase early clinical suspicion and detection of this insidious injury.
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Traumatismos Abdominais/etiologia , Ciclismo/lesões , Hérnia Abdominal/etiologia , Ferimentos não Penetrantes/etiologia , Traumatismos Abdominais/diagnóstico por imagem , Traumatismos Abdominais/cirurgia , Parede Abdominal , Adolescente , Criança , Hérnia Abdominal/diagnóstico por imagem , Herniorrafia , Humanos , Masculino , Ferimentos não Penetrantes/diagnóstico por imagem , Ferimentos não Penetrantes/cirurgiaRESUMO
BACKGROUND: Epicutaneous immunotherapy (EPIT) is a new way of allergen administration that has a high rate of adherence and safety. The aim of this manuscript is to review clinical trials on EPIT for respiratory and food allergies published in the last 10 years, taking into account how different variables (i.e., dose, patch application duration, skin preparation, and efficacy and safety evaluation) have influenced study results. MAIN BODY: From a review of the literature, we identified eight placebo-controlled, double-blind trials conducted on children and adults, including four studies on grass pollen rhino-conjunctivitis, one on cow's milk allergy and three on peanut allergy. Different methods for skin pre-treatment, such as skin abrasion and tape stripping or stratum corneous hydration by an occlusive system, different endpoints and cumulative allergen doses, and different durations of patch application and tape stripping, were used in the rhino-conjunctivitis studies. A visual analogue system was used for the efficacy evaluation. Several local skin reactions (eczema) and some systemic adverse reactions were reported at higher rates in the active group compared to placebo in one study, but this was not shown by other authors. Local eczema reactions were correlated to the times for applying the tape stripping, while systemic side effects were correlated to the deepness of scraping. In the food allergy trials, differences in the food challenge thresholds, endpoints and allergen sites of the cutaneous patch application influenced the study results. A slight dose-dependent efficacy was found in the peanut allergy studies, which was confirmed by a more significant increase in the following progressive open study. Few adverse events and high adherence in all of the food allergen trials were reported. CONCLUSIONS: Overall, the EPIT study results, even if they were affected by great heterogeneity among the methodologies applied, have shown not only the high safety and adherence with this kind of immunotherapy but also suggested the possibility for obtaining definitive evidence of the efficacy of EPIT, especially for food allergies.
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Conjuntivite/complicações , Conjuntivite/terapia , Hipersensibilidade Alimentar/complicações , Hipersensibilidade Alimentar/terapia , Imunoterapia , Rinite/complicações , Rinite/terapia , HumanosRESUMO
Asthma is one of the most common chronic respiratory diseases worldwide. It affects all ages but frequently begins in childhood. Initiation and exacerbations may depend on individual susceptibility, viral infections, allergen exposure, tobacco smoke exposure, and outdoor air pollution. The aim of this review was to analyze the role of the gutâ»lung axis in asthma development, considering all asthma phenotypes, and to evaluate whether microbe-based therapies may be used for asthma prevention. Several studies have confirmed the role of microbiota in the regulation of immune function and the development of atopy and asthma. These clinical conditions have apparent roots in an insufficiency of early life exposure to the diverse environmental microbiota necessary to ensure colonization of the gastrointestinal and/or respiratory tracts. Commensal microbes are necessary for the induction of a balanced, tolerogenic immune system. The identification of commensal bacteria in both the gastroenteric and respiratory tracts could be an innovative and important issue. In conclusion, the function of microbiota in healthy immune response is generally acknowledged, and gut dysbacteriosis might result in chronic inflammatory respiratory disorders, particularly asthma. Further investigations are needed to improve our understanding of the role of the microbiome in inflammation and its influence on important risk factors for asthma, including tobacco smoke and host genetic features.
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Asma/microbiologia , Microbioma Gastrointestinal , Animais , Asma/etiologia , Asma/imunologia , Humanos , Pulmão/microbiologiaRESUMO
INTRODUCTION: Focal epilepsy constitutes the most common epilepsy in children, and medical treatment represents the first-line therapy in this condition. The main goal of medical treatment for children and adolescents with epilepsy is the achievement of seizure freedom or, in drug-resistant epilepsies, a significant seizure reduction, both minimizing antiseizure medications (ASM)-related adverse events, thus improving the patient's quality of life. However, up to 20-40% of pediatric epilepsies are refractory to drug treatments. New ASMs came to light in the pediatric landscape, improving the drug profile compared to that of the preexisting ones. Clinicians should consider several factors during the drug choice process, including patient and medication-specific characteristics. AREAS COVERED: This narrative review aims to summarize the latest evidence on the effectiveness and tolerability of the newest ASMs administered as monotherapy or adjunctive therapy in pediatric epilepsies with focal onset seizures, providing a practical appraisal based on the existing evidence. EXPERT OPINION: The latest ASMs have the potential to be effective in the pharmacological management of focal onset seizures in children, and treatment choice should consider several drug- and epilepsy-related factors. Future treatments should be increasingly personalized and targeted on patient-specific pathways. Future research should focus on discovering new chemical compounds and repurposing medications used for other indications.
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Epilepsias Parciais , Epilepsia , Adolescente , Humanos , Criança , Anticonvulsivantes , Qualidade de Vida , Epilepsias Parciais/tratamento farmacológico , Convulsões/tratamento farmacológico , Epilepsia/tratamento farmacológico , Resultado do TratamentoRESUMO
It is widely known that optimal nutrition in the first 1000 days of life positively impacts the child's development throughout adulthood. In this setting, salt should not be added to complementary feeding. In developed countries, salt intake is generally higher than recommended for children. Excessive salt intake is the major determinant of hypertension and is associated with several cardiovascular outcomes. Therefore, pediatricians have a key role in raising awareness among parents to avoid salt consumption in the first 1000 days of life to ensure better health for their children. Starting from a review of the literature published in PubMed/MedLine regarding the short- and long-term consequences of salt consumption during the first 1000 days of life, our comprehensive review aims to analyze the beneficial effects of avoiding salt at such a vulnerable stage of life as the first 1000 days. Obesity, hypertension, increased salt sensitivity, high sweet drink consumption, increased mortality, and morbidity persisting in adult age represent the principal consequences of a higher salt intake during the first 1000 days of life.
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CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine-threonine kinase involved in neural maturation and synaptogenesis [...].
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Upper respiratory tract infections (URTI) account for more than 80% of wheezing episodes in children with a high incidence of hospitalization in preschool age. Most children with symptoms of wheezing during an URTI are usually non-atopic. As the majority of wheezing episodes resulting from URTI are attributed to viral triggers, several studies have suggested the potential anti-inflammatory and antiviral properties of resveratrol. This study aims to identify the effect of resveratrol for pediatric non-atopic patients with recurrent wheezing triggered by URTIs. We conducted a prospective single-blind study to assess the effectiveness of a short course of nasal solutions incorporating resveratrol and carboxymethyl-ß-glucan, administered for 7 days at the onset of URTIs, compared to standard nasal lavage with 0.9% saline solution. A total of 19 patients entered the active group, 20 patients were assigned to the placebo group. The comparison of overall wheezing days (p < 0.001), mean wheezing days per month (p < 0.01), and wheezing episodes per patient (p < 0.001) in the two groups showed a significant reduction in the group receiving resveratrol compared with the placebo group, with less hospital access (p < 0.001) and oral corticosteroid administration (p < 0.01). Our findings seem to suggest that, in non-atopic children with recurrent wheezing secondary to URTIs, nasal resveratrol could be effective to prevent or reduce the occurrence of wheezing, when started from the onset of upper airway symptoms.
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Sons Respiratórios , Infecções Respiratórias , Resveratrol , beta-Glucanas , Humanos , Resveratrol/administração & dosagem , Resveratrol/farmacologia , Pré-Escolar , Feminino , Masculino , Sons Respiratórios/efeitos dos fármacos , beta-Glucanas/administração & dosagem , beta-Glucanas/uso terapêutico , Método Simples-Cego , Estudos Prospectivos , Infecções Respiratórias/tratamento farmacológico , Administração Intranasal , Lavagem Nasal , Resultado do TratamentoRESUMO
CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine-threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000-60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development. This Italian multi-center observational study focused on 34 patients with CDKL5-related epileptic encephalopathy, aiming to enhance the understanding of the clinical and molecular aspects of CDD. The study, conducted across 14 pediatric neurology tertiary care centers in Italy, covered various aspects, including phenotypic presentations, seizure types, EEG patterns, treatments, neuroimaging findings, severity of psychomotor delay, and variant-phenotype correlations. The results highlighted the heterogeneity of seizure patterns, with hypermotor-tonic-spasms sequence seizures (HTSS) noted in 17.6% of patients. The study revealed a lack of clear genotype-phenotype correlation within the cohort. The presence of HTSS or HTSS-like at onset resulted a negative prognostic factor for the presence of daily seizures at long-term follow-up in CDD patients. Despite extensive polypharmacotherapy, including medications such as valproic acid, clobazam, cannabidiol, and others, sustained seizure freedom proved elusive, affirming the inherent drug-resistant nature of CDD. The findings underscored the need for further research to explore response rates to different treatments and the potential role of non-pharmacological interventions in managing this challenging disorder.
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Transtornos do Neurodesenvolvimento , Humanos , Masculino , Itália , Feminino , Pré-Escolar , Estudos de Coortes , Lactente , Criança , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/epidemiologia , Síndromes Epilépticas/genética , Síndromes Epilépticas/fisiopatologia , Proteínas Serina-Treonina Quinases/genética , Adolescente , Espasmos InfantisRESUMO
BACKGROUND: The introduction of component-resolved diagnosis was a great advance in diagnosis of allergy. In particular, molecular allergy techniques allowed investigation of the association between given molecular profiles and clinical expression of allergy. We evaluated the possible correlation between the level of specific IgE (sIgE) to single components of Phleum pratense and clinical issues such as the severity of allergic rhinitis (AR) and the presence or absence of asthma. METHODS: The study included 140 patients with rhinitis and/or asthma caused by sensitization to grass pollen. sIgE to Phl p 1, Phl p 5, Phl p 7, and Phl p 12 from Phleum pratense were measured, and the correlation between the stage of AR according to Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines and the presence of asthma was studied by multivariate logistic regression in terms of sIgE and ARIA stage, while univariate logistic regression was used for IgE and a dichotomic classification of asthma as present or absent. RESULTS: Ten patients had intermittent AR, 48 had mild persistent AR, and 82 had severe persistent AR. Asthma was present in 86 patients and absent in 54. A significant correlation was found between severe persistent AR and presence of asthma (p < 0.01). The only significant correlation between clinical data and sIgE values was that of low values of sIgE to Phl p 5 and absence of asthma (p < 0.01). CONCLUSIONS: This preliminary finding suggests that low values of sIgE to Phl p 5 are correlated with the absence of asthma in patients with grass-pollen induced allergy. The data, provided they are confirmed by further studies, could be useful when selecting patients who are candidates for allergen immunotherapy, since a higher risk of asthma could be used as a selection criterion for using this approach.
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Despite the introduction of new anti-seizure medications in recent years, approximately one-third of the epileptic population continues to experience seizures. Recently, the anti-obesity medication fenfluramine (FFA) has been successfully repurposed, and it has received approval from various regulatory agencies for the treatment of seizures associated with Dravet syndrome and Lennox-Gastaut syndrome. The potential antiseizure effects of FFA were initially observed in patients with photosensitive epilepsy in the 1980s but it was not rigorously explored as a treatment option until 30 years later. This narrative review aims to provide an overview of the historical progression of FFA's use, starting from initial clinical observations to preclinical studies and, ultimately, successful clinical trials in the field of epilepsy.
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BACKGROUND: Aicardi-Goutières syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS, advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes, and new clinical pictures have emerged beyond the classic presentation. The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies. DATA SOURCES: Literature reviews and original research articles were collected from databases, including PubMed and ClinicalTrials.gov. Relevant articles about AGS were included. RESULTS: The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients. However, other clinical manifestations, such as chilblains, hepatosplenomegaly, and hematological disturbances, may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients. Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities. However, advances in understanding the pathogenesis of AGS could open new and more effective therapies. CONCLUSIONS: The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS, leading to multi-organ damage with the main involvement of the central nervous system. To date, there is no specific and effective treatment for AGS. New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.
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Doenças Autoimunes do Sistema Nervoso , Malformações do Sistema Nervoso , Humanos , Qualidade de Vida , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/terapia , Malformações do Sistema Nervoso/genética , Interferons/uso terapêuticoRESUMO
Background: Sleep and epilepsy are characterized by a bidirectional relationship. Indeed, epilepsy predisposes to the development of sleep disorders, while sleep deprivation may exacerbate epilepsy. In addition, antiseizure medication can disrupt normal sleep architecture. Therefore, adequate sleep hygiene could lead to improvement in seizure control. The present study aimed to evaluate the effect of melatonin on seizure frequency, EEG tracing, and sleep in children with focal idiopathic epilepsy. Methods: This observation study evaluated the effect of 4 mg oral melatonin in ameliorating sleep-wake cycle, seizure frequency, and EEG features in children with focal idiopathic epilepsy of infancy. Twenty children were enrolled from September 2020 to August 2021. The study consisted of serial controls at enrollment (t0), at 3 months (t1), and at 6 months (t2) including neurological examination, questionnaire about sleep disturbances (CSHQ), and EEG. Results: A significant improvement in sleep quality and daytime sleepiness was observed after melatonin supplementation. Furthermore, we observed a noteworthy improvement in EEG tracing at t2 that exhibited a significant correlation with improvements in CSHQ scores. Conclusion: The studies conducted so far to evaluate the effect of melatonin in persons with epilepsy do not lead to definitive conclusions. Despite the small population sample and the study design, we report sleep and EEG improvement after melatonin administration in our cohort. Larger studies are needed to further study the neuroprotective and anticonvulsant properties of melatonin.
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INTRODUCTION: Despite recent advances in neuroimaging and genetics, electroencephalography (EEG) continues to play a central role in the diagnosis and management of epilepsy. One application of EEG is called pharmaco-EEG. This technique is highly sensitive in detecting the effects of drugs on brain functioning and shows potential in predicting the efficacy and tolerability of anti-seizure medications (ASMs). AREAS COVERED: In this narrative review, the authors discuss the most salient data concerning the effects of different ASMs on EEG. The authors aim to provide a clear and concise overview of the current state of research in this area, while also identifying opportunities for future investigation. EXPERT OPINION: To date, pharmaco-EEG does not appear to be clinically reliable for predicting treatment response in epilepsy, as the literature is limited by underreporting of negative results, a lack of controls in many studies and insufficient direct replication of previous findings. Future research should focus on controlled interventional studies, which are currently lacking.
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Eletroencefalografia , Epilepsia , Humanos , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , NeuroimagemRESUMO
BACKGROUND: Strategies for diagnosing celiac disease (CD) include case-finding and population-screening programs. Case finding consists of testing individuals at increased risk for the disease due to symptoms or associated conditions. Screening programs are widespread campaigns, which definitely perform better in terms of unveiling CD diagnoses but nowadays are still debatable. The global prevalence of CD is around 1% but it almost doubles when considering screening programs among school children. Within this framework, we aimed to estimate the prevalence of CD among hospitalized children in the Pediatric Department of a Southern Italy University Hospital in the period from January 2018 through December 2021. In addition, we attempted to explore, at the time of diagnosis, the prevalence of leading clinical alerts due to malabsorption/malnutrition such as anemia or failure to thrive or due to systemic inflammation/immune dysfunction as hypertransaminasemia and thyroid dysfunction. METHODS: Data records of pediatric patients admitted as inpatients and tested by anti-transglutaminase IgA antibodies (TGA-IgA) were retrospectively analyzed. CD was diagnosed according to either 2012 or 2020 ESPGHAN guidelines, depending on the year of diagnosis. CD autoimmunity (CDA) was a wider group defined within our protocol if patients had elevated TGA-IgA on at least one occasion, regardless of anti-endomysial antibodies (EMA-IgA) and without biopsy confirmation. RESULTS: During the observation period, 3608 pediatric patients were admitted and 1320 were screened for CD (median age 5 years, IQR 2-9 years; CD test rate: 36.6% out of all admissions). The available prevalence of newly diagnosed CD was 1.59% (21 patients diagnosed) and the available prevalence of CDA was 3.86% (51 subjects). Among CD patients, underweight/malnourished children accounted for 28.6% (6 out of 21). CONCLUSIONS: The estimated prevalence of CD diagnoses within our setting was comparable to the most recent population-screening programs. The estimated prevalence of CDA was even higher. A hospital-admission CD testing during routine blood draws might be a non-invasive, cost-effective and valuable approach to reduce discrepancy of prevalence between case-finding and population-screening programs.