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Objectives: The impact of the COVID-19 pandemic on allergic patients is not clearly understood. The aim of this study is to investigate the changes in sensitivity to cat and dog allergens in patients with respiratory allergies in Istanbul during the COVID-19 pandemic. Methods: Before the pandemic (March 2018 - March 2020) and during and after the pandemic (March 2020 - March 2022), a total of 5499 patients who underwent skin testing were retrospectively evaluated. The patients' age, gender, diagnosis, total IgE, and eosinophil values were recorded. Patients were divided into two groups: 2-6 years old and 7 years and older. The frequency of sensitization to cats and dogs was investigated in both groups before and after the pandemic. Results: The median age of the 5499 children included in the study was 77 months, with a range of 2 to 221 months. Furthermore, 55.7% of the children were male. Of the children, 59.1% were examined before the pandemic, and 40.9% during and after the pandemic. During the examinations, allergic rhinitis was identified in 1628 children (29.6%), asthma in 1829 children (33.3%), and both asthma and allergic rhinitis in 2042 children (37.1%). Allergies to cats were found in 247 children (4.5%), and to dogs in 166 children (3.0%). When comparing the age groups, the frequency of cat allergy in the 7-years and older group was found to have decreased compared to the pre-pandemic period, and the statistical difference was close to significance (p=0.08). However, regarding dog allergy, in the 7 years and older group, the sensitivity to dogs, which was 5.6% before the pandemic, had decreased to 2.6% during the pandemic, and this decrease was found to be statistically highly significant (p<0.001). Conclusion: Environmental allergen exposure has a significant impact on the phenotype of allergic diseases. Changes in patients' lifestyles and increased time spent at home during the pandemic may have led to a decrease in contact with outdoor cat and dog allergens, resulting in a reduced frequency of cat and dog sensitivity. Additionally, the introduction of mask-distance-handwashing/disinfection rules during the pandemic is believed to have reduced contact with cat and dog allergens, potentially contributing to a decrease in allergy frequency.
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Transposable elements (TEs) are abundant in the human genome, and they provide the sources for genetic and functional diversity. The regulation of TEs expression and their functional consequences in physiological conditions and cancer development remain to be fully elucidated. Previous studies suggested TEs are repressed by DNA methylation and chromatin modifications. The effect of 3D chromatin topology on TE regulation remains elusive. Here, by integrating transcriptome and 3D genome architecture studies, we showed that haploinsufficient loss of NIPBL selectively activates alternative promoters at the long terminal repeats (LTRs) of the TE subclasses. This activation occurs through the reorganization of topologically associating domain (TAD) hierarchical structures and recruitment of proximal enhancers. These observations indicate that TAD hierarchy restricts transcriptional activation of LTRs that already possess open chromatin features. In cancer, perturbation of the hierarchical chromatin topology can lead to co-option of LTRs as functional alternative promoters in a context-dependent manner and drive aberrant transcriptional activation of novel oncogenes and other divergent transcripts. These data uncovered a new layer of regulatory mechanism of TE expression beyond DNA and chromatin modification in human genome. They also posit the TAD hierarchy dysregulation as a novel mechanism for alternative promoter-mediated oncogene activation and transcriptional diversity in cancer, which may be exploited therapeutically.
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Phenylketonuria is an inherited metabolic disorder that leads to neurobehavioral dysfunction. The main treatment is a low-phenylalanine diet and/or the cofactor tetrahydrobiopterin. Regular outpatient follow-up care and measurement of the phenylalanine levels in the blood are required. We aimed to analyze the economic burden of phenylketonuria on families and the state. The patients with phenylketonuria were divided into three groups according to their treatment: a low-phenylalanine diet group (n = 50), a tetrahydrobiopterin group (n = 44), and a group taking tetrahydrobiopterin together with the diet (n = 25). A comparative cost analysis was carried out. The annual economic burden to the state was calculated to average EUR 18,801 ± 15,345 and was lowest in the diet group, then in the tetrahydrobiopterin group, and highest in the tetrahydrobiopterin + diet group (p < 0.001). Out-of-pocket costs amounted to EUR 1531 ± 1173 per year, and indirect losses averaged EUR 2125 ± 1930 per year for all families. The economic loss was significantly lower in the families taking tetrahydrobiopterin than in the other groups (p = 0.001). The combined use of medical nutrition and BH4 treatments has been shown to increase the economic burden on the state. Reimbursing low-protein products and increasing the number of patients eligible for financial allowances may reduce the economic burden on families.
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Biopterinas , Fenilalanina , Fenilcetonurias , Fenilcetonurias/economía , Fenilcetonurias/dietoterapia , Fenilcetonurias/tratamiento farmacológico , Fenilcetonurias/sangre , Humanos , Biopterinas/análogos & derivados , Biopterinas/uso terapéutico , Biopterinas/economía , Masculino , Femenino , Fenilalanina/sangre , Niño , Turquía , Preescolar , Costo de Enfermedad , Adolescente , Costos y Análisis de Costo , Adulto , Lactante , Adulto Joven , Gastos en Salud/estadística & datos numéricos , Costos de la Atención en Salud/estadística & datos numéricosRESUMEN
BACKGROUND: Local anesthetic (LA) drugs are commonly used in clinical practice to provide effective analgesia, including in dentistry and minor surgical procedures. The perception of a high risk of allergy in daily applications leads to the referral of atopic patients and those with other drug allergies to allergy clinics for the evaluation of allergic reactions to LA. The aim of this study was to determine who should be referred to the allergy clinic for LA allergy testing, assess the frequency of LA allergy in pediatric patients, and identify the negative predictive value of skin tests in diagnosis. METHODS: January 2017-July 2023, the clinical and laboratory data, as well as the results of drug allergy tests, of patients referred to our pediatric allergy clinic by dentists and physicians performing minor surgical procedures with suspected LA allergy were retrospectively evaluated. RESULTS: Our study included a total of 153 patients, comprising 84 girls (54.9%) and 69 boys (45.1%), with a mean age of 8.9 (±3.3) years. The most common reason for referral was a history of non-LA drug allergies (n = 66, 43.2%), followed by asthma (n = 25, 16.3%). Hypersensitivity reactions (HRs) with LA were most commonly associated with articaine (n = 7, 4.8%), followed by lidocaine (n = 6, 4.1%). When intradermal tests were evaluated, 17 patients (11.1%) had a positive test result. The positivity for lidocaine was 70.6% (n = 12), and prilocaine was 29.4% (n = 5). Subcutaneous provocation was administered to 109 patients (71.2%), and one patient exhibited local erythema and swelling with prilocaine. CONCLUSION: Although LA allergy is a rare occurrence, consultations of this nature are frequently requested from allergy clinics in real life. Considering the negative predictive value of skin tests performed with LA drugs, the reaction rate appears to be low in patients with atopy or other drug allergies. It is crucial for all relevant healthcare professionals to be knowledgeable about the appropriate approach to suspected LA allergies to avoid unnecessary tests. To the best of our knowledge, our study is the most comprehensive work in the literature that evaluates the results of diagnostic tests in children referred with a suspicion of LA allergy.
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Hipersensibilidad a las Drogas , Hipersensibilidad Inmediata , Masculino , Femenino , Humanos , Niño , Anestésicos Locales/efectos adversos , Estudios Retrospectivos , Hipersensibilidad a las Drogas/diagnóstico , Hipersensibilidad a las Drogas/epidemiología , Lidocaína/efectos adversos , Pruebas Cutáneas , Prilocaína , Hipersensibilidad Inmediata/diagnóstico , Pruebas Diagnósticas de RutinaRESUMEN
OBJECTIVE: The study focused on assessing the potential neurocognitive and social developmental issues in children with non-syndromic craniosynostosis (NSC) who received optimal surgical treatment. The primary objective was to determine whether NSC, even after optimal surgical treatment, could have negative effects on brain development. METHODS: The study included a total of 73 pediatric patients aged between 2 and 6 years who had previously undergone surgery for NSC at the Gazi University Faculty of Medicine, Department of Neurosurgery. These patients were carefully matched with 107 healthy children who visited the outpatient clinic of the same department in terms of sociodemographic characteristics such as age, gender, and social status. To assess the neurocognitive and social development of the participants, the child psychologist administered a developmental scale to the child and his/her family via video conference. This scale was adapted from the Bayley-III Infant and Child Development Scale by the Gazi University Faculty of Medicine, Division of Pediatric Neurology. RESULTS: The study found no social or gross motor developmental issues in patients who had undergone optimal surgical treatment for NSC. However, the risk of fine motor developmental deficiencies was 4.79 times higher than that of the normal population, and the risk of language developmental deficiencies was 5.75 times higher than that of the normal population. CONCLUSIONS: Despite timely treatment of NSC, long-term neurocognitive and social development issues may arise in affected children. Therefore, it is crucial to monitor these patients after completing surgical treatment and thoroughly examine their development using a multidisciplinary approach.
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Craneosinostosis , Cambio Social , Humanos , Niño , Lactante , Masculino , Femenino , Preescolar , Discapacidades del Desarrollo , Craneosinostosis/cirugía , Desarrollo Infantil , Desarrollo del LenguajeRESUMEN
5-Fluorouracil (5-FU) has been in clinical practice for decades one of the oldest chemotherapy agents. However, intravenous administration of 5-FU requires the development of an oral controlled delivery system for improved patient compliances. For this purpose, 5-FU loaded and sodium alginate (NaAlg) coated and uncoated methyl cellulose (MC)/chitosan (CS) microspheres were prepared by emulsion crosslinking method using a mixture of water and oil. Firstly, MC/CS microspheres were prepared and then coated with NaAlg. The prepared microspheres were characterized by optical microscopy, Fourier transform infrared spectroscopy (FTIR), and differential scanning calorimetry (DSC). Microspheres were also characterized by equilibrium swelling values and drug release profiles. The in vitro drug release studies were carried out with three pH values 1.2, 6.8, and 7.4, respectively, each for 2 h. It was determined that coating the microspheres with NaAlg provides more controlled drug release, especially at pH 1.2. The effects of the preparation conditions, such as coating time, MC/CS ratio, NaAlg concentration, and crosslinker concentration on the 5-FU release were investigated.