Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study.

Introduction: the management of phenylketonuria (PKU) is complex. Practical skills and knowledge of individuals taking care of PKU patients are important for treatment compliance. This study investigated parents´ knowledge about PKU and its affecting factors. The study group consisted of 62 parents of PKU patients. Methods: data were collected using a ready-made questionnaire on sociodemographic characteristics, PKU and dietary treatment. Total knowledge score (KS) was calculated by giving 5 points for each correct answer. Results: the study included 34 mothers and 28 fathers; 90.3% of patients were diagnosed during the newborn screening program, 6.5% between ages 1 and 2, and 3.2% at age 6 or after. Among all, 38.7% presented to their follow-up appointments with their mothers, 61.3% with both their parents and none with their father alone. Mothers answered all questions more accurately than fathers. Mothers´ and fathers´ mean KSs were 73.97 ± 12.72 and 53.04 ± 22.25, respectively. The highest KS was obtained among parents whose children were 13 years of age or older. Conclusion: the presence of another family member, parents´ education level, working status and professional qualifications, previous training on PKU and family´s economic status were the affecting factors. Creating a PKU dietary plan requires knowledge and diligence. Patients and their parents should be periodically informed about the disease and dietary treatment in order to increase their level of knowledge.

The Effects of Colchicine on the Histopathological Findings of Celiac Disease During Familial Mediterranean Fever Treatment.

Familial mediterranean fever (FMF) and Celiac Disease (CD) are both autoinflammatory and autoimmune diseases with common clinical features affecting the gastrointestinal system. Familial mediterranean fever may coexist with CD. Inflammatory cells and cytokines are up-regulated within the intestinal mucosa of patients with CD. In this perspective, lymphocyte infiltration to the lamina propria of the small intestinal mucosa is a critical pathological sign. In the present study, we aimed to find out whether the treatment of an FMF patient with colchicine affects the pathological signs of concomitant developed CD on the same patient. We retrospectively reviewed the medical records of 147 patients with FMF who were followed up in our center between 2015 and 2020. Of the 147 patients with FMF, 3 patients also had CD. In this report, we presented these 3 cases. The findings obtained in this study suggest that pathological findings may be misinterpreted in autoimmune diseases, such as CD, when patients administer anti-inflammatory treatments, such as colchicine.

Clinical significance of MEFV gene variation R202Q.

BACKGROUND: The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. METHODS: We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the patients regarding disease severity, symptoms, age at the onset of symptoms, gender, consanguinity, and family history. RESULTS: Twenty-one patients (9 males, 12 females) had compound heterozygote mutation (M694V/R202Q), and 37 patients (23 males, 14 females) had M694V/- mutation. The mean age of the patients at the time of diagnosis was 7.3 ± 4.3 and 9.2 ± 3.7 years. The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p = < 0.001). The mean severity score was higher in M694V/R202Q heterozygote group although it did not reach statistical significance (8.43 ± 1.69 vs 7.49 ± 1.50; p = 0.082). However, the rate of having a high severity score was significantly higher in the M694V/R202Q mutation group than in the other group (47.6% vs 21.6%, respectively; p = 0.039). The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p = < 0.001). CONCLUSION: Our finding supports the possibility that R202Q may be pathogenic rather than a variation. We found that the R202Q mutation is associated with the inflammatory phenotype of FMF; hence, the typical clinical findings of FMF especially arthritis can be observed in patients with compound mutation including R202Q. Key Points • We found that the R202Q mutation is associated with the inflammatory phenotype of FMF • The patients with the R202Q mutation had a greater rate of arthritis symptoms.

Peripheral and central smell regions in children with epilepsy: An MRI evaluation.

OBJECTIVES: We investigated the peripheral and central olfactory regions in children with epilepsy using cranial MRI. METHODS: In this retrospective study, cranial MRI images were obtained from 23 children with epilepsy and 23 healthy controls. Olfactory bulb (OB) volume and olfactory sulcus (OS) depth in the peripheral olfactory region and insular cortex and corpus amygdala areas in the central olfactory region were measured. RESULTS: There was no significant difference in the OB volume and OS depth in the peripheral olfactory regions in the two groups (p > 0.05). In the central olfactory region, the insular cortex and corpus amygdala areas in the epilepsy group were significantly smaller than those in the control group (p < 0.05). In both groups, the OS depth on the right side was significantly higher than that on the left side (p < 0.05). In the epilepsy group, there were positive correlations between each of the OB volumes, OS depths, insular cortex areas, and corpus amygdala areas bilaterally (p < 0.05). In both groups, there were positive correlations between the OB volume and OS depth, OS depth and insular cortex area and insular cortex area and corpus amygdala areas (p < 0.05). CONCLUSION: A change in the central olfactory region in epileptic patients may be related to central tissue damage due to epilepsy. This finding has important implications for epilepsy patients, with early diagnosis and treatment potentially preventing a reduction in the volumes/depths of components of the central olfactory region in the pediatric population.

Vitamin D levels in children with COVID-19: a report from Turkey.

Several studies have demonstrated that higher levels of vitamin D are associated with better prognosis and outcomes in infectious diseases. We aimed to compare the vitamin D levels of paediatric patients with mild/moderate coronavirus disease 2019 (COVID-19) disease and a healthy control group. We retrospectively reviewed the medical records of patients who were hospitalised at our university hospital with the diagnosis of COVID-19 during the period between 25 May 2020 and 24 December 2020. The mean age of the COVID-19 patients was 10.7 ± 5.5 years (range 1-18 years); 43 (57.3%) COVID-19 patients were male. The mean serum vitamin D level was significantly lower in the COVID-19 group than the control group (21.5 ± 10.0 vs. 28.0 ± 11.0 IU, P < 0.001). The proportion of patients with vitamin D deficiency was significantly higher in the COVID-19 group than the control group (44% vs. 17.5%, P < 0.001). Patients with low vitamin D levels were older than the patients with normal vitamin D levels (11.6 ± 4.9 vs. 6.2 ± 1.8 years, P = 0.016). There was a significant male preponderance in the normal vitamin D group compared with the low vitamin D group (91.7% vs. 50.8%, P = 0.03). C-reactive protein level was higher in the low vitamin D group, although the difference did not reach statistical significance (9.6 ± 2.2 vs. 4.5 ± 1.6 mg/l, P = 0.074). Our study provides an insight into the relationship between vitamin D deficiency and COVID-19 for future studies. Empiric intervention with vitamin D can be justified by low serum vitamin D levels.

Does Subclinical Hypothyroidism Affect Dynamic Thiol / Disulfide Homeostasis and Ischemia-modified Albumin Levels in Children?

OBJECTIVE: To determine the effects of subclinical hypothyroidism on oxidative stress in children. STUDY DESIGN: A cross-sectional study. PLACE AND DURATION OF STUDY: Department of Paediatrics, Paediatric Endocrinology, and General Outpatient Clinics, Kirikkale University, School of Medicine, from May 2017 to October 2018. METHODOLOGY: This study included 92 subjects aged between 2 and 18 years. The subjects were divided into two groups. Forty-seven children with subclinical hypothyroidism and 45 healthy controls were evaluated. In order to evaluate oxidative damage, native thiol, total thiol, disulfides, their ratios, and ischemia-modified albumin (IMA) levels were compared between the two groups. The relationship between TSH and IMA levels was assessed. RESULTS: Age and gender were not significantly different in the two groups. Native thiol, total thiol, disulfides and their ratios were similar in the two groups. Ischemia-modified albumin levels were significantly higher in the patient group than the controls (p<0.001). There was no correlation between TSH and IMA levels in the patient group (r=0.069 p=0.645). CONCLUSION: Subclinical hypothyroidism may be related to the impairment of IMA, and have a neutral effect on thiol/disulfide balance. Further research is needed to explain the effects of oxidative stress in subclinical hypothyroidism. Key Words: Subclinical hypothyroidism, Childhood, Oxidative stress.

Purtscher-Like Retinopathy Associated with Synthetic Cannabinoid (Bonzai) Use

Purtscher's retinopathy is a microvascular occlusive disease initially described as retinal edema, cotton wool-like exudation, and hemorrhages occurring after severe head trauma. A similar clinical presentation called Purtscher-like retinopathy is associated with systemic diseases instead of trauma. In the present case, ophthalmic eksamination of a patient with complaints of blurred vision related to substance (Bonzai) use revealed bilateral cotton-wool spots. Purtscher-like retinopathy was diagnosed based on fluorescein angiography and optical coherence tomography findings. This is the first case of Purtscher-like retinopathy associated with Bonzai use described in the literature.