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Introduction: Cow's milk protein allergy (CMPA) is the most commonly encountered food allergy in the world, usually seen in infants under the age of 2 years. This study aims to determine the factors including COVID-19 affecting formula compliance of CMPA patients. Methods: This study is a prospective, observational study based on 10 different Paediatric Allergy-Immunology clinics in Turkey. Patients aged between 6 months and 2 years, who were followed up with IgE-mediated CMPA treatment or newly diagnosed and using breast milk and/or formula were included in the study. The sociodemographic characteristics of the patients, their symptoms, the treatments they received, and the effects of the COVID-19 pandemic on adherence to formula were evaluated with a questionnaire administered to the parents. Results: The compliance rate for formula-based treatment was 30.8% (IQR: 28.3, SD: 21.86). The number of patients with a single and multiple food allergy was 127 (51.6%) and 71 (28.9%), respectively. Breastfeeding duration, daily amount of prescribed formula and addition of sweetener to the formula were found to reduce compliance (p = 0.010, p = 0.003, and p = 0.004, respectively). However, it was determined that the patient's height, weight, age at diagnosis, and age of formula onset did not have a significant effect on compliance. Conclusion: It was found that the duration of breastfeeding, the increase in the daily amount of formula requirement, and the addition of sweeteners had adverse effects on formula compliance. There was no significant correlation between the formula adherence of CMPA patients and the pandemic.
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Introduction Celiac disease (CD) is a rather frequent chronic autoimmune disease that causes impaired growth in children. The present study aims to evaluate patients' condition after diagnosis cross-sectionally and determine the factors affecting prognosis. Methods Control visits were performed at the end of the 13-month intervention period. The study was designed as a single-center retrospective study and included patients diagnosed with CD. The study cohort consisted of 211 patients aged 1 to 18 years. Statistical parameters include Helicobacter positivity, Marsh classification; economic status; and body mass index (BMI) z-score, weight z-score, and height z-score to observe the difference between admission and follow-up. Results Treatment adherence is one of the most critical factors influencing improvement in developmental parameters during control visits (p<0.033). It was observed that the weight z-scores at the control visit deteriorated significantly with a longer duration of complaints (p=0.033). Better improvement of control visit BMI z-scores among patients with complaints compared to asymptomatic patients (p=0.036) indicate the importance of early diagnosis in asymptomatic cases. Developmental parameters of patients with CD without growth retardation (GR) show faster improvement compared to patients with GR (p<0.001). Families with good socioeconomic status can easily adapt to the diet by reaching a greater variety of gluten-free products, so anthropometric measurements are observed to be significantly higher at the control visit (p<0.002). Conclusions Treatment adherence is the most critical factor for improvement in CD treatment, as in all treatments. In addition, the investigation of suspected, additional disease symptoms during the follow-up of a CD patient is also of great importance for early diagnosis. The importance of early diagnosis has been emphasized in terms of anthropometric improvement in asymptomatic CD cases.
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AIMS: Coeliac disease (CD) is an autoimmune disorder with a prevalence ≤2% that causes an immune reaction to gluten. Growth retardation (GR) generally accompanies CD due to gastrointestinal complications and should be treated as early as possible along with initiation of a gluten-free diet. The aim of this study was to determine the indicators of GR in patients with CD. METHODS: This single-centre retrospective study included paediatric outpatients with CD. All patients were diagnosed with CD via serological analysis and upper gastrointestinal endoscopy if necessary. Patient records were obtained from Adana City Training and Research Hospital. Patients that were diagnosed with GR accompanying CD were given oral nutritional supplements and followed-up every 3-6 months. Statistical relationships between demographics, and anthropometric measurements, duration of breastfeeding, gluten contact time, diet duration, presenting complaints and serological findings were evaluated. RESULTS: This study included 169 paediatric outpatients between ages 1 and 18. Longer symptom duration and shorter breastfeeding duration were significantly correlated with GR accompanying CD (P = 0.007 and P = 0.029, respectively). Vomiting was the only symptom that was correlated with the presence of GR (P = 0.010). Helicobacter pylori infection was not correlated with the presence of GR (P = 0.277). CONCLUSIONS: GR should be treated as early as possible to reduce the severity of CD and a 6 months sole breastfeeding followed by solid foods accompanied by breastfeeding for 2 years is crucial for preventing GR. Moreover, vomiting as a presenting complaint in patients with CD might be indicative of the presence of GR.
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Enfermedad Celíaca , Adolescente , Enfermedad Celíaca/complicaciones , Niño , Preescolar , Dieta Sin Gluten , Glútenes , Trastornos del Crecimiento , Humanos , Lactante , Estudios RetrospectivosRESUMEN
BACKGROUND: The presence of mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1/2) in glioma tumors is correlated with good prognosis upon standard-of-care treatment. Therefore, information on whether the glioma tumor has IDH1/2 mutations could be used in the correct diagnosis and management of glial tumors. The two most common techniques used to detect IDH1/2 mutations, immunohistochemistry (IHC) and Sanger sequencing, are prone to missing these mutations, especially if the tumor cells that carry the mutations constitute a small minority of the tumor itself. OBJECTIVES: We developed and validated a rapid method (3-mismatch-amplification refractory mutation system [3m-ARMS]) that can be used for pre-, intra- and postoperative detection of the most common IDH1/2 mutations in glial tumors with high specificity and sensitivity. We also conducted a comprehensive IDH1/2 mutation analysis in 236 glial tumor samples comparing 3m-ARMS, IHC and Sanger sequencing. METHODS: 3m-ARMS was optimized and validated for the specific and sensitive detection of the most common IDH1 and IDH2 mutations. We then analyzed 236 glial tumor samples for the presence of IDH1/2 mutations using 3m-ARMS, Sanger sequencing and IHC techniques. We then analyzed and compared the results, evaluating the diagnostic and screening potential of 3m-ARMS. RESULTS: Comparison of the three techniques used in the mutation analysis showed that 3m-ARMS-based IDH1/2 mutation detection was superior to IHC and Sanger sequencing-based IDH1/2 mutation detection in terms of accuracy, specificity and sensitivity, especially for tumor samples in which only a small minority of the cell population carried the mutation. 3m-ARMS could detect the presence of femtogram levels of IDH1/2 mutant DNA in DNA samples in which the mutant DNA-to-wild-type DNA ratio was as low as 1:100,000. CONCLUSION: Sanger sequencing and IHC-based methods have shortcomings when detecting mutations in glial tumors so can miss IDH1/2 mutations in glial tumors when used alone without proper modifications. 3m-ARMS-based mutation detection is fast and simple with potential for use as a diagnostic test for the majority of hot spot mutations in IDH1/2 genes. It can detect IDH1/2 mutations within an hour so can be adapted for intraoperative diagnosis.