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Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder which results from the inability of biotin-dependent carboxylase enzymes to function due to the release and absorption of biotin, leading to neurological and cutaneous findings. In the present study, evaluation of demographic characteristics, clinical findings, laboratory results, molecular genetic characteristics, and genotype–phenotype correlations of cases with BD. Two hundred forty-seven cases were included in the study who were admitted to the Department of Pediatric Metabolism of Ankara Bilkent City Hospital after being identified with potential BD through the Newborn Screening Program (NBS), during family screening or based on suspicious clinical findings, or following the detection of a pathogenic variant in a BTD genetic analysis during the period of October 2020 and February 2022. The medical files of the cases were reviewed retrospectively. An analysis of the admission routes of all cases to our clinic revealed 89.5% NBS, 5.7% family screening, and 4.9% suspicious clinical findings suggestive of BD. Complete enzyme deficiency was identified in 19.8%, partial enzyme deficiency in 55.1%, and heterogenous enzyme deficiency in 9.7%. The most common pathogenic variants were c.1270G > C (p.Asp424His), c.410G > A (p.Arg137His), and c.38_44delGCGCTGinsTCC (p.Cys13Phefs*36) in BTD gene. The c.1270G > C variant was most common in patients with cutaneous symptoms. The c.410G > A and c.38_44delGCGCTGinsTCC variants were more common in the patients with neurological symptoms. The mean activity level in patients with the c.1270G > C homozygous variant was statistically significantly higher than the mean activity level in the c.1270G > C compound heterozygous patients and the activity level of patients without the c.1270G > C variant. The mean activity level in c.410G > A homozygous patients was statistically significantly lower than the mean activity level of the c.410G > A compound heterozygous patients and the activity level of patients without the c.410G > A variant. In the course of our study, four new pathogenic variants were detected, namely: c.190G > A (p.Glu64Lys), c.249 + 5G > T, c.228delA (p.Val77*), and c.682A > G (p.Ile228Val). Conclusions: The present study has determined the clinical and genetic spectrum of a large group of patients with BD in a single center. The frequent mutations in our study were similar to those reported in literature, and four novel variants were also described. What is Known: • Biotinidase deficiency is an autosomal recessive, treatable inborn error of metabolism. Two hundred ninety-four pathogenic variants in the BTD gene have been identified and the c.1270G > C variant is the most frequent BTD gene mutation in both Turkey and around the world. What is New: • Four new pathogenic variants (c.190G > A, p.Glu64Lys; c.249 + 5G > T; c.228delA, p.Val77*; and c.682A > G, p.Ile228Val) have been identified. It is believed that the c.38_44delGCGGCTGinsTCC variant is more commonly seen in individuals with ocular issues; however, further genotype–phenotype correlations are needed. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to evaluate the effects of dietary changes on late phase of allergic reaction in patients with allergic rhinitis (AR) by measuring eosinophilic cationic protein (ECP), interleukin (IL)-4 and IL-31 levels. Methods: Sixty participants (40 patients with AR and 20 healthy control subjects) were included in this study. Forty patients with confirmed diagnosis of AR were randomly divided into two groups, all patients were prescribed the same treatment, intranasal azelastine hydrochloride. Patients in group 1 were asked to change their diet from Western to Mediterranean diet by eliminating processed meat, processed sugar, and polyunsaturated fatty acids. Blood samples of every subject were driven at the beginning and three months later to study ECP, IL-4 and IL- 31 levels. By using ELISA method IL-4 and IL-31 levels were determined and compared between healthy volunteers and patients. Results: There was a significant difference in terms of ECP levels in group 2. The posttreatment ECP levels were significantly higher than pretreatment levels in group 2 (p=0.025 and p<0.05). There was no significant difference in terms of other parameters. Conclusion: In our study, we showed that the laboratory parameters associated with AR were positively affected by the Mediterranean diet. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effect of professional experience and lighting conditions on visual shade selection on natural teeth and comparing the visual‐shade‐selection results with those of instrumental methods. Materials and Methods: Shade selection was performed on five maxillary central incisors. The 25 observers were divided into five groups according to their professional experience. Observers performed visual‐shade‐selection using shade guide (Vita 3D Master, Vita Zahnfabrik, Bad Säckingen, Germany) under two lighting conditions (4000 and 6500 K) from the cervical, middle and incisal thirds of the teeth. Same teeth were measured using an intraoral scanner (Trios 3Shape, Copenhagen, Denmark) and spectrophotometer (Vita Easyshade Compact, Vita Zahnfabrik, Bad Säckingen, Germany), under the same two lighting conditions. Results: Visual‐shade‐selection outcomes were not affected by professional experience under both lighting conditions (P < .05). Outcomes of visual‐shade‐selection and intraoral scanner were not significantly different than that of spectrophotometer (P > .05). Lighting conditions had no effect on the shade measurement outcomes of visual shade selection, Vita Easyshade Compact, and Trios 3Shape (P > .05). Conclusions: Shade measurement outcomes were not affected by the lighting conditions (4000 and 6500 K). The shade measurement feature of the T‐3S could be an alternative to V‐ES and VSS. Clinical significance: This study suggests professional experience and lighting conditions has no effect on visual shade selection. Trios 3Shape could be used for shade determination as an alternative to a Vita Easyshade Compact spectrophotometer. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to evaluate how Rhinapi nasal spray affects symptoms of allergic rhinitis. Methods: In this prospective, multicenter, observational study, 10,000 patients (comprising 5028 males and 4972 females) exhibiting symptoms of allergic rhinitis (namely, nasal discharge, sneezing, nasal itching, and nasal obstruction) from different centers in different regions of Turkey were enrolled in the study between March 2022 and March 2023. All the patients wanted to participate in the study and were administered Rhinapi one puff to each nostril three times a day, for a period of 3 weeks. Total symptom scores, quality of life (QoL) scores, and otolaryngological examination scores were evaluated before and 3 weeks after treatment. Results: The scores for discharge from the nose, sneezing, nasal pruritus, and blockage of the nose all indicated improvement when compared to pre-medication and post-medication. This difference achieved statistical significance (P <.001). The mean total symptom score fell following treatment (P <.001): whilst the score was 11.09 ± 3.41 before administering Rhinapi; after administration, the average score was 6.23 ± 2.41. The mean QoL scores also altered after medication (P <.001), improving from a mean value of 6.44 ± 1.55 to a mean of 7.31 ± 1.24. Significant improvement was also noted in the scores for conchal color and degree of edema after the treatment had been administered (P <.001). Conclusion: The study demonstrates that Rhinapi nasal spray decreases total symptom scores, and results in improved QoL and otolaryngological examination scores. Propolis spray may be recommended for patients with allergic rhinitis alongside other treatments. [ABSTRACT FROM AUTHOR]

This research was aimed to determine the level of consciousness and consumption status of probiotic foods of the students in the Food Engineering and Chemistry Departments in Sakarya University (Sakarya, Turkey). The study was carried out between April and May-2019 with the participation of 200 students in Chemistry Department and 200 in Food Engineering Department. The research data was collected by using an interview method with a questionnaire. Minitab program was used to evaluate data. Tables with mean, probability value (p value) and percentage (%) values were prepared, and chi-square (χ²) materiality test was used. It was determined that 44% of students in Food Engineering Department and 20.10% of students in Chemistry Department had information about probiotic foods (p<0.05). 32.16% of students in Food Engineering Department and 12.18% of students in Chemistry Department consumed probiotic foods (p<0.05). According to results, students in Food Engineering Department had more information about probiotic foods. Furthermore, students in Food Engineering Department consumed probiotic foods more. In recent years; with the consumption of probiotic foods, digestive system disorders improved significantly, diarrhea decreased, cholesterol level decreased, body cells were renewed, immune system was strengthened and even colon cancer was suppressed. Parallel to this, it was determined that the majority of students consumed probiotic food because of strengthening the immune system. e [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to present our experience and evaluate our results of endoscopic balloon laryngoplasty (BL) in children with subglottic stenosis (SGS) at a pediatric tertiary center over a 5-year period. Methods: This study reviewed 41 pediatric patients diagnosed with acquired SGS who had undergone BL as the primary course of treatment. Cases were analyzed for details including patient demographics, SGS grade and length, timing and the type of surgery, presence of tracheostomy, comorbidities, postoperative management, complications and outcomes of balloon dilatation. Results: Forty-one children (22 girls and 19 boys) who had undergone BL at a mean age of 26 months (range, 1 month to 14 years) were included in the study. Nineteen (46.3%) were diagnosed with acute SGS (12 thin stenosis, 7 thick stenosis) and 22 (53.7%) with chronic SGS (9 thin stenosis, 13 thick stenosis). The success rate of BL was 100% in patients with acute and chronic thin membranous stenosis. The effectiveness of BL was significantly higher in patients with acute thick stenosis than in patients with chronic thick stenosis (p=0.016). Conclusion: This study confirms that BL in patients presenting with acquired SGS with thin membranous stenosis, regardless of whether acute or chronic, can have a good prognosis. However, the results are less promising in cases of chronic thick stenosis. [ABSTRACT FROM AUTHOR]