Levent Midyat

Eponym. Scimitar syndrome.

Scimitar syndrome is a rare congenital anomaly, characterized by partial or complete anomalous pulmonary venous drainage of the right or left lung into the inferior vena cava. The syndrome is commonly associated with hypoplasia of the right lung, pulmonary sequestration, persisting left superior vena cava, and dextroposition of the heart. The pathogenesis of the syndrome is unclear, but it seems to originate from a basic developmental disorder of the entire lung bud early in embryogenesis. Two main forms of scimitar syndrome have been described. Signs and symptoms can start during infancy (infantile form) or beyond (childhood/adult form). The infantile form generally presents within the first 2 months of life with tachypnea, recurrent pneumonia, failure to thrive, and signs of heart failure. The diagnosis of scimitar syndrome is usually made based on the characteristic chest X-ray films and can be confirmed by angiography; however, it is now done mostly by transthoracic or transesophageal echocardiography, noninvasive computed tomography, or magnetic resonance angiography. Fetal echocardiography using three-dimensional power Doppler imaging permits prenatal diagnosis. Most frequently, patients are asymptomatic in the absence of associated abnormalities and can be followed conservatively. For patients with congestive heart failure, repeated pneumonia, or pulmonary-to-systemic blood flow ratios greater than 1.5 and pulmonary hypertension, it is important to reroute the anomalous right pulmonary veins and repair the associated cardiac defects in order to avoid progression to right ventricular failure. The triad of respiratory distress, right lung hypoplasia, and dextroposition of the heart should alert the clinician to think of scimitar syndrome.

A VERY RARE CAUSE OF CHILDHOOD PARAPARESIS: PRIMARY INTRADURAL EXTRAMEDULLARY SPINAL HYDATID CYST

Hydatid disease is caused by the larval form of Echinococcus. Lung and liver are the most commonly affected sites. Primary intradural extramedullary hydatid disease is extremely rare; a 13-year-old girl with primary intradural hydatid cyst who presented with symptoms of paraparesis is discussed in this article.

MicroRNA expression profiling in children with different asthma phenotypes

An improved understanding of the molecular mechanisms in asthma through exploring the role of microRNAs may offer promise to reveal new approaches for primary prevention and identification of new therapeutic targets in childhood asthma. The primary goal of this study is to identify the microRNAs that play a role in the pathogenesis of asthma in pediatric age group. The secondary goal is to analyze these microRNAs according to the asthma phenotype, atopic status, and severity of the disease exacerbation. To our knowledge, this is the first research project in the literature which studies the relationship between microRNA expression and the severity of childhood asthma. One hundred children between 6 and 18 years old with a diagnosis of asthma, and 100 age‐matched healthy children were enrolled in this study, and the analyses of microRNA expression profiles were performed in the Medical Genetics Laboratories of Ege University between November 2009 and June 2010. The expression of 10 microRNAs were shown to be higher in patients with more severe asthma, and the expression of these microRNAs were also found to be higher in patients who present with more severe acute asthma exacerbation symptoms (P < 0.001). Also, five microRNAs were found to be expressed more than twofold in allergic patients when compared to non‐allergic participants (P <0.001). Asthma is one of the best examples of complex genetic diseases, and further studies, which will investigate the relationship between these microRNAs and their target genes, are needed to learn more about the specific roles of microRNAs in respiratory diseases. Pediatr Pulmonol. 2016;51:582–587.

Immunity against diphtheria among children and adults in Izmir, Turkey.

The aim of this study was to evaluate diphtheria immunity in a sample of the Turkish population having high childhood immunization coverage, including a booster dose of diphtheria toxoid at 12-15 years of age. A total of 599 persons aged 1-70 years were selected with cluster sampling. The information on socio-demographic characteristics, vaccination status and diphtheria history was gathered for each participant. Diphtheria antitoxin levels were measured qualitatively by using micro-enzyme immune assay. Of studied population, 72.3% had fully protective antitoxin levels (≥ 0.1 IU/ml). The rate of protection was 92.5% in the children aged 0-2 years, 93.2% in the primary school children aged 7-9 years, and 86.0% in the adolescents aged 15-19 years. After 20 years of age, diphtheria protection rates showed a significant age-related decrease, reaching minimum in the 30-39 age group, in which 47.3% of these subjects had fully protective antitoxin levels. The diphtheria antitoxin geometric mean titer (GMT) was highest in the 0-2 year age group (1.18 IU/ml). In the adolescents aged 15-19 years, diphtheria antitoxin GMT was 0.71 IU/ml. Then, geometric mean titer decreased with increasing age, and reached the minimum level in the 40-59 years age group (0.18 IU/ml). The protection rate among females was significantly lower than males (67.1% vs. 80.9%). The difference was apparent in the 20-29 and the 30-39 years age group: 80% of the males and 46.2% of the females in the 20-29 years age group, and 60% of males and 44.1% of females in the 30-39 years age group were fully protected against diphtheria (p<0.0001). These results suggest that in Izmir, Turkey, full serological protection against diphtheria is only detectable in <50% of the young adult population, even though childhood immunization coverage is relatively high. Potentially, there is still risk of diphtheria outbreaks among the adults in our country. Therefore, a revaccination of adults with reduced doses of diphtheria toxoid should be considered to sustain diphtheria immunity.

Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girl

Juvenile psoriatic arthritis (JPsA) is characterized by asymmetric arthritis of big and small joints, enthesitis, dactylitis, psoriatic skin lesions and nail pitting. Investigators agree that JPsA is a relatively common chronic arthropathy of childhood that differs clinically, serologically, and genetically from both juvenile idiopathic arthritis and juvenile ankylosing spondylitis. Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease occasionally accompanied by sacroiliitis. This is characterized by recurrent self‐limited attacks of fever and accompanying abdominal, chest and arthricular pain. We present a 14‐year‐old Turkish girl with JPsA and carrying FMF gene mutations. In this patient, JPsA was diagnosed according to her physical, laboratory and skin biopsy findings and a treatment with methotrexate and sulfasalazine was started. As an inadequate clinical and laboratory response was obtained after the first month of therapy, the patient was investigated for FMF, and was diagnosed by molecular analyses of related gene (E148Q heterozygous/V726A homozygous mutation) besides clinical findings. After 2 weeks of the colchicine treatment, symptoms of the patient regressed and acute phase reactants decreased. To our knowledge, this is the first case presenting with psoriatic arthritis and FMF gene mutations together and responds to colchicine, methotrexate and sulfasalazine dramatically in clinical and laboratory findings. This case has been presented to remind that cases with psoriatic arthritis may also carry mutations in the MEFV gene.

Dietary vitamin A intake and serum retinol concentrations of preschool children from different socio-economical levels in Izmir, Turkey.

Aim:  Vitamin A deficiency (VAD), especially in its subclinical form, is a world health problem in young children. The aim of this study was to determine the prevalence of VAD among preschool children in various socio‐economic groups in İzmir, Turkey.

Scimitar syndrome associated with partial anomalous pulmonary venous draining into superior vena cava.

Scimitar syndrome is a rare congenital cardiopulmonary malformation characterized by hypoplasia of the right lung and drainage of the right pulmonary veins into the vena cava inferior. It may also be associated with cardiac dextroversion and anomalies of the tracheobronchial system, cardiovascular system, and diaphragm. Some cases are asymptomatic with others diagnosed in early-childhood period with pulmonary hypoplasia and other associated malformations. We present here a patient whose venous return of the middle and lower lobes of the right lung is into the superior vena cava, which is a very unusual finding for this disorder.

Intrinsic Endobronchial Obstructions in Children from Turkey: Evaluation of 2,555 Flexible Bronchoscopic Procedures

Background: Endobronchial obstructions are rarely seen in children and are often misdiagnosed resulting in delay of definitive treatment. A variety of diseases can cause endobronchial obstructions in childhood, but data is limited as to the frequency, distribution and clinical characteristics of endobronchial obstructions diagnosed with flexible bronchoscopy (FB). Objective: To document endobronchial obstructions detected by FB. Methods: FB results from three pediatric pulmonology centers in Istanbul were evaluated. Results: A total of 2,555 children underwent an FB procedure during the study period. Endobronchial obstructions were detected in 10% (n = 256) of the patients. Among FB in patients who had endobronchial obstructions, the four most common indications for bronchoscopy were persistent infiltrations (30%, n = 72), persistent wheezing (28%, n = 70), chronic cough (26%, n = 66) and atelectasis (23%, n = 59). The most common endobronchial obstructions detected in the patients were aspirated foreign bodies (35.9%, n = 92), endobronchial tuberculosis (31.6%, n = 81), mucous plugs occluding airway (16.7%, n = 43) and granulation scars (6%, n = 16). Other pathologies included hydatid cysts (n = 5), hemangiomas (n = 5), tumors (n = 5), submucosal nodules (n = 5) and polyps (n = 4). Endobronchial obstructions were most commonly located in the right bronchus (51%, n = 130) followed by the left bronchus (33%, n = 85), bilaterally (8%, n = 21) and trachea (8%, n = 20). Conclusions: Endobronchial obstructions can be caused by a number of different diseases which require various medical or surgical treatments. In the presence of clinical or radiological findings suggesting an endobronchial obstruction, FB should be performed promptly.

Outcomes of mechanical support in a pediatric lung transplant center.

Pediatric lung transplantation is a lifesaving option for patients with end stage lung disease, although the scarcity of suitable donor organs results in long wait times and increased waitlist mortality. Many pediatric centers consider mechanical ventilatory support, such as long‐term invasive ventilation and ECMO, a contraindication to lung transplantation. We hypothesized that current survival rates and outcomes for patients on mechanical ventilatory support in the pre‐transplant period were not remarkably different. In our retrospective analysis we included patients between the ages of 0–21 years listed for lung transplantation from deceased donors between 2007 and 2014 at our institution. One‐year survival outcomes were compared between three groups of patients: (i) patients bridged to transplant on ECMO (n = 6, 1‐year survival = 67%); (ii) patients needing mechanical ventilation (either through endotracheal intubation or tracheostomy) but not ECMO (n = 12, 1‐year survival = 75%); and (iii) patients who did not need endotracheal ventilation, tracheostomy, or ECMO (n = 25, 1‐year survival = 88%). Comparison of outcomes of transplanted patients between these three groups were not statistically different in terms of successful hospital discharge and 1‐year survival rates (P > 0.05). We believe that “bridging” the end‐stage lung disease patient with long‐term mechanical ventilation and/or ECMO support is a reasonable option in selected patients until suitable donors become available. Pediatr Pulmonol. 2017;52:360–366.

Rubella seroprevalence among healthy individuals in Izmir, Turkey.

In order to assess immunity to rubella in Izmir, Turkey, a total of 600 persons of 1–70 years of age were selected with cluster sampling. Of the 597 subjects, 120(20.1%) was susceptible to the rubella according to their serum antibody levels. Of children 1 to 6 years of age, 50.9% was found to be serologically susceptible to rubella. Rubella protection rates showed a age-related increase, reaching maximum in the 15–19 age group, in which 98.1% of these subjects had antibody titre above the full protective level. Of the 126 females in the reproductive age group, only 4(3.1%) were found to be serologically susceptible to rubella. Logistic regression analysis showed that among the several independent variables, only age (p