Childhood interstitial lung disease in Turkey: first data from the national registry.

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated. Clinical characteristics were compared between two main chILD groups ((A) diffuse parenchymal lung diseases (DPLD) disorders manifesting primarily in infancy [group1] and (B) DPLD disorders occurring at all ages [group 2]). There were 416 patients registered from 19 centers. Forty-six patients were excluded due to missing information. The median age of diagnosis of the patients was 6.05 (1.3-11.6) years. Across the study population (n = 370), 81 (21.8%) were in group 1, and 289 (78.1%) were in group 2. The median weight z-score was significantly lower in group 1 (- 2.0 [- 3.36 to - 0.81]) than in group 2 (- 0.80 [- 1.7 to 0.20]) (p < 0.001). When we compared the groups according to chest CT findings, ground-glass opacities were significantly more common in group 1, and nodular opacities, bronchiectasis, mosaic perfusion, and mediastinal lymphadenopathy were significantly more common in group 2. Out of the overall study population, 67.8% were undergoing some form of treatment. The use of oral steroids was significantly higher in group 2 than in group 1 (40.6% vs. 23.3%, respectively; p = 0.040).   Conclusion: This study showed that national registry allowed to obtain information about the frequency, types, and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. What is Known: • Childhood interstitial lung diseases comprise many diverse entities which are challenging to diagnose and manage. What is New: • This study showed that national registry allowed to obtain information about the frequency, types and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. Also, our findings reveal that nutrition should be considered in all patients with chILD, especially in A-DPLD disorders manifesting primarily in infancy.

Macrophage activation syndrome induced by Staphylococcus Epidermidis in a pediatric patient with cystic fibrosis and familial Mediterranean fever.

Staphylococcus epidermidis (S. epidermidis) is the most frequently isolated member of the coagulase-negative staphylococci, which colonizes the skin and mucous membranes of the human body. Despite being a component of the normal flora, S. epidermidis can act as an opportunistic pathogen and is frequently implicated in both bacterial and nosocomial infections. Macrophage activation syndrome (MAS) is a rare but potentially fatal disease that occurs as a result of increased activation and proliferation of T lymphocytes and macrophages in response to infections and immune mediated diseases. It is very rare in patients with cystic fibrosis. Here we report a case of an 8-year-old girl with cystic fibrosis and familial Mediterranean fever who developed MAS after contracting a S. epidermidis infection.

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.

Surgery versus conservative management in congenital lobar emphysema: follow up and indicators for surgery.

INTRODUCTION: Congenital lobar emphysema (CLE), a rare developmental lung malformation, involves the hyperaeration of one or more lung lobes caused by partial obstruction and occurs at a rate of 1/20,000-30,000 live births. Here, we aimed to retrospectively examine the clinical, radiological, and bronchoscopy findings of patients with CLE who were diagnosed and treated by surgical or non-surgical (conservative) approaches at our center and compared our results with those in the literature. METHODS: We examined the clinical, radiological, and bronchoscopy findings of 20 patients with CLE aged 0-18 years at our center between 2013 and 2020. In addition, we examined the symptoms and findings recorded during the patients' follow-up in this retrospective descriptive study. RESULTS: The median age of 20 patients with CLE at diagnosis was 3.2 years (range 1 day-17 years). Respiratory distress and mediastinal shift were more prominent in patients who underwent surgery, and they were diagnosed at an earlier age compared with patients who were followed up conservatively (p = 0.001, 0.049, 0.001, respectively). Neither the pulmonary lobe involvement nor the bronchoscopy findings were found to be indicative of surgery. DISCUSSION: We observed that respiratory distress and mediastinal shift were more prominent in patients with a diagnosis of CLE who underwent surgery compared with patients who were conservatively followed up. Moreover, we observed that those who underwent surgery were diagnosed with CLE at an earlier age. In line with the literature, the pulmonary symptoms and CLE-related imaging findings in our study were reduced during conservative follow-up.

Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism.

BACKGROUND: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography. METHODS: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy. RESULTS: Heart systolic function was normal. Mitral E velocities and mitral E/A ratios were significantly lower in patients at baseline. Tei indices were significantly higher in patients and a significant negative correlation was detected between free thyroxine levels and Tei indices.When early and late post-treatment echocardiography findings are compared, a non-significant difference was detected. CONCLUSIONS: Neonates with CH may exhibit systolic and diastolic heart dysfunction, which can be reversed by early L-T4 substitution treatment. The Tei index index should be measured in addition to conventional echocardiography.

Diagnostic role of mean platelet volume and neutrophil to lymphocyte ratio in childhood brucellosis.

BACKGROUND/AIMS: Brucellosis patients present various non-specific clinical symptoms, such as fever, fatigue, sweating, joint pain, arthritis, myalgia, and headache. Based on the nonspecifity of its clinical signs and symtoms, we decided to evaluate whether mean platelet volume (MPV) , neutrophil to lymphocyte ratio (NLR), and platelet to lymphocyte ratio (PLR) will contribute to the diagnosis. METHODS: In this retrospective study, we reviewed hospital-records of 60 children with a confirmed diagnosis of brucellosis in Kayseri between January 2013 and January 2016, and compared the hematological parameters; white blood cell (WBC) count, hemoglobin (Hb), neutrophil count, lymphocyte count, platelet count, MPV, NLR, and PLR with 55 healthy age and gender matched children. Also, the well known inf lammation markers; erytrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were compared between the patient and control group. RESULTS: We found significant difference among the Hb, platelet count, MPV and NLR values between the patient and control group (p < 0.05). There was no difference between WBC, neutrophil count, lymphocyte count and PLR between the patient and control group (p > 0.05). When the patients were divided into groups as arthritis positive and arthritis negative and compared to the control group; we found that the NLR is more significant in between the arthritis positive and control group (p = 0.013). Also, we found significant difference among the ESR and CRP values between the patient and control group (p < 0.001). CONCLUSIONS: The results of this study indicates that MPV and NLR values can be used as markers of inflammation in childhood brucellosis. Also, NLR is more valuable in children with brucella arthritis.

Evaluation of carotid intima-media thickness in children with migraine: a marker of subclinical atherosclerosis.

Migraine is a commonly seen neurovascular disorder during childhood. Inflammation induced by the activation of cytokines and neuropeptides is implied in its pathophysiology. There is an association between inflammation and atherosclerosis in patients with migraine. In addition, there is a strong correlation between early atherosclerotic wall lesions and carotid intima-media thickness (CIMT). The study population consisted of 57 migraine patients aged 5-17 years, as well as 47 healthy children who served as the control group. Those migraine patients who were not receiving any medications at the interictal period were compared to healthy controls in terms of their measured lipid levels, thyroid function, vitamin B12 levels, serum iron levels, iron binding capacity, complete blood count, C-reactive protein (CRP) levels, and carotid intima-media thickness (CIMT) scores, which may comprise risk factors for atherosclerosis. When children in the migraine and control groups were compared in terms of those risk factors that are known to be related to vascular changes, no significant differences were found. However, a significant difference was detected in CIMT values (P < 0.05). Atherosclerosis commences in childhood, and there is a long period of time before the onset of ischemic symptoms occurs. In children with migraine, an evaluation of CIMT can be used as a non-invasive imaging modality to detect atherosclerosis, which develops in the context of chronic inflammation. In this way, measures to reduce morbidity and mortality, which may result from cardiovascular diseases, can be implemented.

Reduction in mean platelet volume in children with acute bronchiolitis.

AIM: Platelets which are known to play a role in inflamation change their shapes when they are activated and this change is reflected in mean platelet volume and platelet distribution width values. Therefore, the mean platelet volume and platelet distribution width values are considered to be beneficial parameters for the diagnosis and treatment of many inflammatory diseases. The aim of the study was to evaluate platelet volume indices in children with acute bronchiolitis. MATERIAL AND METHODS: A total of 514 infants who were below the age of 2 years old were evaluated in this study. Three hundred thirteen of these infants were diagnosed with acute bronchiolitis patients and 201 were healthy children. The patients were separated into four groups as mild, moderate, severe bronchiolitis and the control patient group. The groups were evaluated in terms of significant differences in the values of mean platelet volume and platelet distribution width. A p value of <0.05 was considered statistically significant for all results. RESULTS: The mean platelet volume was found to be 6.8±0.6 fL in the patients with mild bronchiolitis attack, 6.7±0.6 fL in the patients with moderate bronchiolitis attack, 6.5±0.5 fL in the patients with severe bronchiolitis attack and 7.3±1.1 fL in the control group. The mean platalet volume was statistically significantly lower in the mild, moderate and severe bronchiolitis attack groups compared to the control group (p=0.000). The platelet distribution width was found to be 17.2%±0.83 in the mild bronchiolitis attack group, 17.1%±0.96 in the moderate bronchiolitis attack group, 17.3%±0.87 in the severe bronchiolitis attack group and 16.9±1.6% in the control patient group. This difference was not statistically significant (p=0.159). The platelet count was statistically significantly higher in the mild, moderate and severe bronchiolitis attack groups compared to the control group (p=0.000). CONCLUSIONS: The mean platalet volume is decreased in patients with acute bronchiolitis. It is not a useful criterion in determining the severity of bronchiolitis attack. It is important that clinicians evaluating hemogram results to also interprete this variable.

Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery.

Legg-Calve-Perthes (LCP) disease is characterized by idiopathic avascular osteonecrosis of the epiphysis of the femur head. The main factor that plays a role in the etiology of the disease is decreased blood flow to the epiphysis. Many predisposing factors have been suggested in the etiology of LCP disease, and most have varying degrees of effects. Here we present the case of a boy aged 4 years and 10 months with complaints of short stature and a diagnosis of multiple hypophyseal hormone deficiency, in whom LCP disease and difficult birth-related pituitary stalk interruption syndrome were identified by anamnesis. The present case revealed that LCP disease and hypophyseal hormone deficiency could be secondary to difficult birth and that LCP disease could be secondary to insulin-like growth factor 1 deficiency. Additionally, to the best of our knowledge there is no published case on the relation between LCP disease and insulin-like growth factor 1 deficiency. Therefore, we believe that this case is worthy of presentation.

Diabetic euglycemic ketoacidosis in newly diagnosed type 1 diabetes mellitus during Ramadan fasting.

Real euglycemic diabetic ketoacidosis [DKA; blood glucose <200 mg/dL (11.1 mmol/L)] is rare, and long-lasting starvation conditions due to intervening diseases in type 1 diabetes mellitus patients may also cause it. Euglycemic DKA is also reported in insulin-dependent diabetics with depression, alcoholics, glycogen storage diseases, and chronic liver disease apart from pregnant cases. This case report is presented to emphasize the importance of evaluation of acid-base state, urine glucose, and ketone values at the application in all newly diagnosed type 1 diabetic patients with normal glucose levels by defining euglycemic DKA that resulted from long-lasting starvation during Ramadan fasting in a newly diagnosed 14-year-old male patient.