Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. METHODS: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. RESULTS: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. CONCLUSIONS: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide.

Premature Infants have no Higher Risk of Atopy and Respiratory Functions Compared to Control at 4-6 Years of Age.

AIMS: This study aimed to evaluate the respiratory functions and atopy conditions of preterm infants treated with aminophylline or caffeine for apnea in NICU in early childhood. MATERIALS AND METHODS: This is a retrospective cohort study. In this study, 27 patients aged 4 to 6 years hospitalized in NICU for prematurity and 26 healthy children were included. The subjects were evaluated for fx5, phadiatope, total IgE levels, skin tests, and respiratory function tests. RESULTS: There was no statistically significant difference among groups in terms of fx5, phadiatope, total IgE levels, and skin test results. Moreover, no statistically significant difference was found among the groups in terms of FVC, FEV1, FEV1/ FVC, PEF, MEF75, MEF50, MEF25, and MEF25-75 values in respiratory function tests. Preterm neonates with bronchopulmonary dysplasia (BPD) had higher FEV1 values compared to ones without BPD (p=0.02). CONCLUSION: Preterm infants treated with aminophylline or caffeine did not have a higher risk of atopy and had similar respiratory function tests compared to healthy infants at 4-6 years old. However, FEV1 values were higher in infants with BPD. These results suggested that respiratory functions could be affected in the long-term follow-up of premature infants with BPD.

Clinical features of anaphylaxis in children.

Background: Despite the considerable increase in anaphylaxis frequency, there are limited studies on clinical features of anaphylaxis in children in developing countries. Objective: We aimed to analyze the demographic and clinical features of anaphylaxis in children in Turkey by comparing different age groups and triggers. Methods: Medical records of 147 children, ages 0-18 years, diagnosed with anaphylaxis between 2010 and 2019 were retrospectively analyzed. Results: The mean ± standard deviation age at first anaphylaxis episode was 5.9 ± 5.2 years, with a male predominance (63.9%); 25.2% were infants and 52.4% were < 6 years of age at their first anaphylaxis episode; 78.2% were atopic, with the highest frequency in children with food-induced anaphylaxis (FIA). The home (51.7%) was the most frequent setting. The overall leading cause of anaphylaxis was food (44.2%), which was more frequent at < 6 years of age, followed by drugs (28.6%) and bee venom (22.4%), both were more frequent among older children (>6 years). The patients with venom allergy had the highest rate of rapid onset of symptoms (p < 0.001). Gastrointestinal symptoms were observed significantly more in infants (48.6%) and in children with FIA (38.5%); cardiovascular symptoms were more frequently observed in children > 6 years of age (48.6%) and in children with drug-induced anaphylaxis (64.3%). Although recurrent anaphylaxis was reported for 23.1% of the patients, it was highest in the patients with FIA (35.9%). Overall, only 47.6% of the patients received epinephrine in the emergency department (ED) and 27.3% were referred to an allergy specialist, with the patients with FIA having the lowest rate for both, 32.3% and 10.8%, respectively. Children with drug-induced anaphylaxis had the highest rate of severe anaphylaxis (57.1%). Conclusion: There is a need to improve anaphylaxis recognition and management in all children regardless of age and trigger. Inadequate treatment was most evident in infants and patients with FIA.

Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria.

Objectives: In this study, we aimed to investigate the performance of Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) classification criteria in pediatric patients with familial Mediterranean fever (FMF). Patients and methods: This retrospective, cross-sectional study included a total of 130 pediatric FMF patients (67 males, 63 females; mean age: 12.4±3.6 years; range, 2.5 to 17.7 years) with at least one M694V mutation in MEFV gene between July 2010 and July 2019. Demographic features and disease characteristics were recorded. The control group was consisted of 41 patients (19 males, 22 females; mean age: 7.8±4.0 years; range, 2.1 to 17.8 years) with other hereditary autoinflammatory diseases (AIDs), including periodic fevers with aphthous stomatitis, pharyngitis, and adenitis syndrome (n=30), mevalonate kinase deficiency (n=9), and tumor necrosis factor receptor-associated periodic syndrome (n=2). Sensitivity and specificity of the Eurofever/PRINTO classification criteria were calculated. Results: The sensitivity and specificity were 97.7% and 56.1% for Yalcinkaya-Ozen criteria, respectively and 93.1% and 90.2% for Tel Hashomer criteria, respectively. The Eurofever/PRINTO classification criteria reached a sensitivity and specificity of 94.6% and 82.9% and 93.1% and 80.5%, respectively, when genetic plus clinical criteria and clinical-only criteria were applied. Conclusion: The Eurofever/PRINTO classification criteria have a comparable sensitivity for avoidance of FMF underdiagnosis in childhood. The Yalcinkaya-Ozen criteria have the highest sensitivity without a significant specificity. The Tel Hashomer criteria and Eurofever/PRINTO classification criteria were superior to Yalcinkaya-Ozen criteria to differentiate FMF from other AIDs, thus leading to less complications relevant to underdiagnosis of other AIDs.

Retrospective Analysis of the Factors Affecting Growth Parameters in Turkish Children With Systemic Lupus Erythematosus.

OBJECTIVES: This study aims to investigate the growth parameters in Turkish children with systemic lupus erythematosus (SLE) and to compare these growth parameters according to the presence or absence of cyclophosphamide, rituximab treatment, cumulative corticosteroid dose, proliferative nephritis, and the last visit disease activity and damage index. PATIENTS AND METHODS: Medical data, growth parameters including z-scores for weight, height, and body mass index and parent-adjusted height z-scores of 45 juvenile SLE (jSLE) patients (5 males, 40 females; mean age 12.3±3.2 years; range 7.1 to 18 years) were retrospectively evaluated. Growth parameters were calculated by anthropometric references in Turkish children. The disease activity was assessed by the SLE Disease Activity Index 2000 (SLEDAI-2K). The disease outcome was measured by the Pediatric version of Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index. RESULTS: The median diagnostic delay was two months (range, 0-36 months). The median follow-up duration was 3.21 years (range, 0.63-9.48 years). Mean height z-score was significantly lower at last visit than at the time of diagnosis. The growth parameters did not differ according to age at disease onset, diagnostic delay, presence of proliferative nephritis, having cyclophosphamide and rituximab treatment and the last visit (SLEDAI-2K) scores. The median duration of corticosteroid treatment was 3.2 years (range, 0.6-9.4 years) and the median cumulative corticosteroid dosage was 13.9 g (range, 1.9-58 g) of methylprednisolone. The mean height z-score at last visit was significantly lower in those who received at least 10 g of cumulative dose of corticosteroid. The last visit mean parent-adjusted height z-scores did not differ significantly regarding the cumulative corticosteroid dose. CONCLUSION: The last visit height and parent-adjusted height z-scores of jSLE patients were significantly lower. The patients treated with at least 10 g of cumulative dose of corticosteroids had lower mean height z-score.

Recurrent Henoch Schönlein purpura without renal involvement successfully treated with methotrexate.

INTRODUCTION: Henoch Schönlein purpura is characterised by palpable purpura, abdominal pain, arthritis/arthralgia, often with a self-limiting course. Herein, we report a patient with recurrent Henoch Schönlein purpura and severe gastrointestinal involvement, successfully treated with methotrexate. CASE PRESENTATION: A 12-year-old boy was admitted to our department with palpable purpura, abdominal pain and arthralgia. Since gastrointestinal complaints were severe, systemic steroids were administered, with tapering of dosage. Henoch Schönlein purpura recurred several times with severe abdominal pain, maelena and purpura during next two months. Colchicine and hydroxychloroquine were initiated. After four months, we also introduced methotrexate, which enabled discontinuation of previous medications including corticosteroids. Methotrexate was ceased four months later, and remission was sustained without any medications for 24 months. CONCLUSION: Besides the conflicting data regarding the use of methotrexate in recurrent Henoch Schönlein purpura, our case introduces successful methotrexate experience in a child with Henoch Schönlein purpura and recurrent severe gastrointestinal involvement.

The Influence of Concomitant Disorders on Disease Severity of Familial Mediterranean Fever in Children.

OBJECTIVES: This study aims to describe the effects of concomitant disorders on the course of familial Mediterranean fever (FMF) and the relevance of genotype on these associations. PATIENTS AND METHODS: Files of 494 FMF patients (257 males, 237 females; mean age 12.8±1.94 years; range 1.6 to 23 years) were retrospectively examined. Age of diagnosis, sex, MEditerrenean FeVer mutations, colchicine dosage, disease severity score and concomitant diseases in FMF course were recorded. FMF diagnoses were based on Tel-Hashomer criteria and disease severity was determined by international severity scoring system for FMF. Patients were divided into two groups as M694V positives and M694V negatives. We compared the groups in terms of accompanying illnesses, MEditerrenean FeVer mutations, and disease severity scores among five concomitant diseases: juvenile idiopathic arthritis (JIA), asthma, Henoch- Schonlein purpura, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome, and others. RESULTS: The mean age at diagnosis was 8.7±1.9 years. Eighty-five patients (17.2%) had accompanying diseases including JIA, asthma, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome, and Henoch-Schonlein purpura. Mean disease severity scores were 2.4±1.1 in patients with only FMF and 3.0±1.5 in patients with concomitant disorders (p=0.001). Patients with concomitant JIA showed the highest severity scores (4.3±1.6). A statistically significant difference was found with one-way analysis of variance. CONCLUSION: Our findings indicate that concomitant diseases, particularly JIA, influence FMF severity. Therefore, it may be beneficial to focus on diagnosis and treatment of comorbid inflammatory diseases, which may worsen the course of FMF.

Correlation between nasal eosinophils and nasal airflows in children with asthma and/or rhinitis monosensitised to house dust mites

BACKGROUND: Allergic rhinitis and asthma due to mite sensitisation are diseases which are frequently associated and characterised by persistent inflammation. In the present study, we aimed to investigate the relationship between nasal airflows and nasal eosinophils in patients with asthma and/or rhinitis due to house dust mite sensitisation. METHODS: Twenty-four children with both rhinitis and asthma (R + A), 13 children with rhinitis and no asthma (R) and 10 non-allergic healthy children were evaluated prospectively. The patients belonging to the first two groups had moderate-severe grade of nasal obstruction. Total nasal symptom scores, peak nasal inspiratory flows (PNIFs) obtained by anterior rhinomanometry, skin prick tests, nasal eosinophils and FEV1 values were all assessed. RESULTS: Percentages of nasal eosinophils and PNIFs in patients with R + A and R (r = −0.415, p = 0.04) were found to be statistically significant and to have an inverse correlation. Skin prick tests were also significantly correlated with nasal eosinophils and PNIFs (r = 0.372, p = 0.01 and r = −0.306, p = 0.04, respectively). Both PNIFs and nasal eosinophils of patients with R + A were significantly correlated with FEV1 values (r = −0.641, p = 0.001 and r = 0.548, p = 0.007, respectively). CONCLUSION: In this study, a close relationship was demonstrated between eosinophil infiltration and nasal airflows in children having asthma and/or rhinitis monosensitised to mites. Additionally, the significant association found between FEV1 values and nasal eosinophils or PNIFs supported the close link of upper and lower airways

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Effects of physical exercise on quality of life, exercise capacity and pulmonary function in children with asthma.

OBJECTIVE: To investigate the effects of regular submaximal exercise on quality of life, exercise capacity and pulmonary function in asthmatic children. PATIENTS AND METHODS: Sixty-two children with mild-moderate asthma (mean age 10.4 (SD 2.1) years) were randomly allocated into exercise and control groups. The exercise group underwent a moderately intensive basketball training program for 8 weeks. A home respiratory exercise program was advised to both groups. Pediatric Asthma Quality of Life Questionnaire (PAQLQ) was used for the evaluation of activity limitation, symptoms and emotional functions. Exercise capacity was evaluated through the physical work capacity (PWC 170 test) on a cycle ergometer and 6-minute walk test. Spirometric tests were also performed and medication and symptom scores were recorded. RESULTS: Although PAQLQ scores improved in both groups, the improvement in the exercise group was significantly higher. The exercise group performed better in the PWC 170 and 6-minute walk tests, whereas no improvement was detected in the control group at the end of the trial. Medication scores improved in both groups, but symptom scores improved only in the exercise group. No significant changes were detected in pulmonary function in either group, except for peak expiratory flow values in the exercise group. CONCLUSION: Eight weeks of regular submaximal exercise has beneficial effects on quality of life and exercise capacity in children with asthma. Submaximal basketball training is an effective alternative exercise program for asthmatic children.