Pulmonary Alveolar Proteinosis in Hereditary and Autoimmune Forms With 2 Cases.

Pulmonary alveolar proteinosis (PAP) is a respiratory pathology characterized by the accumulation and increase of surfactant-derived material in the lungs. In clinical practice, PAP may present as the primary form, which includes autoimmune and hereditary PAP, or as the secondary form. Diffuse alveolar radiopacities on chest x-ray and the crazy-paving pattern on high-resolution computed tomography are important, although not specific findings for PAP. Bronchoalveolar lavage biopsy is a diagnostic method, and whole-lung lavage remains the criterion standard for the treatment of PAP. Evidence is required regarding treatment with exogenous anti-granulocyte/macrophage colony-stimulating factor.Here, we present a 13-year-old male patient with hereditary PAP and a 15-year-old female patient with autoimmune PAP who presented with complaints of easy fatigability and weakness to emphasize the importance of keeping in mind PAP as a differential diagnosis in patients with respiratory failure findings.

Outcomes of Baked Milk and Egg Challenge in Cow's Milk and Hen's Egg Allergy: Can Tolerance Be Predicted with Allergen-Specific IgE and Prick-to-Prick Test?

BACKGROUND: Adding baked food into the diets of patients with cow's milk allergy (MA) and hen's egg allergy (EA) has several benefits. OBJECTIVE: We aimed to determine baked and unbaked food tolerance and evaluate the effectiveness of laboratory findings on the prediction of baked and unbaked food tolerance in patients with MA and EA. METHODS: Clinical outcomes of the patients with MA and EA who had been exposed to oral food challenge with baked food were retrospectively analyzed. RESULTS: Ninety-one patients were evaluated. The median age of the study group was 22 months. Forty-nine and 42 patients had IgE-mediated MA and EA, respectively. While all patients with EA tolerated baked egg, 24.5% patients with MA could not tolerate baked cow's milk (BM). In patients with MA, BM tolerance showed negative association with milk-specific IgE, skin prick test (SPT), and prick-to-prick test (PTP), and the PTP was the most significant parameter (sensitivity 83.8%, specificity 91.7% for PTP ≤7 mm). Negative association was seen between milk-specific IgE, SPT, PTP, and unbaked milk (UBM) tolerance, and PTP was the most significant parameter (sensitivity 100%, specificity 55% for PTP ≤4 mm). In patients with EA, at the end of 6 months of baked hen's egg (BE) consumption, scrambled egg tolerance showed negative association with egg white-specific IgE level, egg white SPT and PTP. Egg white PTP was the most significant parameter (sensitivity 82.4%, specificity 96.0% for PTP ≤5 mm). CONCLUSION: Specific-IgE, SPT, and PTP should be kept in mind as parameters that can be used to predict tolerance to BM and BE for patients with MA and EA.

Efficacy of allergen-blocker mechanical barrier gel on symptoms and quality of life in patients with allergic rhinitis.

PROPOSE: Allergic rhinitis (AR) is a very common, chronic and global health problem. In the last two decades, the efficiency of barrier-enforcing measures in AR has been investigated. In this study, we aimed to evaluate the effect of allergen-blocker mechanical barrier gel (MBG) (AlerjiSTOP®) treatment on symptoms and quality of life score (QoLS) in patients with seasonal and perennial allergic rhinitis. METHODS: A single-center, prospective study was conducted between January 2017 and May 2018. Patients diagnosed with allergic rhinitis with a visual analogue scale (VAS) of 5 or higher (moderate/severe) were enrolled in the study. Patients were evaluated in terms of VAS, nasal symptom score (NSS), ocular symptom score (OSS), total symptom score (TSS) and QoLS at baseline, 1 week and 1 month of MBG treatment. RESULTS: A total of 83 patients with AR were enrolled in the study. Clinical and laboratory examinations showed that 50 (60.2%) patients were mono-sensitized. Allergen-blocker mechanical barrier gel treatment was performed as monotherapy in 22 (26.5%) patients. Median VAS, NSS, OSS and TSS decreased from 7 to 4, 8 to 3, 4 to 0 and 12 to 4, respectively (p < 0.0001). Correlation analysis revealed positive correlations between lower pediatric rhinoconjunctivitis quality of life questionnaire scores for patients under 12 years of age and decrease in VAS, NSS and TSS (r = 0.380, p = 0.008; r = 0.544, p < 0.0001; r = 0.543, p < 0.0001). Positive correlations were detected between lower rhinoconjunctivitis quality of life questionnaire (self-administered) scores for patients ≥ 12 years of age and decrease in VAS, NSS, OSS and TSS (r = 0.703, p < 0.0001; r = 0.465, p = 0.005; r = 0.526, p = 0.001; r = 0.624, p < 0.0001). CONCLUSION: In conclusion, we found significant decrease in all symptom scores and improvement in QoLS of patients treated with MBG as monotherapy and combination therapy.

Knowledge levels related to allergen specific immunotherapy and perspectives of parents whose children were diagnosed with asthma and/or allergic rhinitis in Turkey.

Isik S, Çaglayan-Sözmen S, Asilsoy S, Kiliçarslan SK, Anal Ö, Karaman Ö, Uzuner N. Knowledge levels related to allergen specific immunotherapy and perspectives of parents whose children were diagnosed with asthma and/or allergic rhinitis in Turkey. Turk J Pediatr 2018; 60: 50-55. In the present study, we aimed to evaluate the knowledge levels and perspectives about allergen specific immunotherapy (ASI) of parents whose children were diagnosed with asthma and/or allergic rhinitis with positive skin prick test. The study was conducted between September 2014 and January 2015. Surveys that were filled by 198 parents were analyzed. One hundred-ninety-eight parents were included in the study; 42.9% of the parents had knowledge about ASI. Parents obtained information about the ASI from respectively pediatric allergy specialists (25.5%), relatives and friends (17.8%), media (12.9%), and pediatrician (8.2%). There is a strong association between educational level of the mother, atopy background of the family, the monthly per capita income, and having knowledge about the ASI. Multivariate regression analysis revealed that individuals with a monthly income higher than 2,000 TL were more likely to be aware of the ASI application (OR: 4.35, 95% CI: 1.13-16.71; p < 0.05). Eighty-nine percent of the parents stated that they would prefer the sublingual ASI instead of subcutaneous ASI because it is easy to use and its severe side effects risk is low. The awareness of the ASI is at high rates in our patient population.

The association between monosymptomatic enuresis and allergic diseases in children.

Yilmaz-Durmus S, Alaygut D, Soylu A, Alparslan C, Köse SS, Anal Ö. The association between monosymptomatic enuresis and allergic diseases in children. Turk J Pediatr 2018; 60: 415-420. This clinical study was designed to evaluate correlation between monosymptomatic enuresis (MSE) and allergic diseases (asthma, allergic rhinitis, eczema, and food allergy) in pediatric patients. The study was conducted on 50 pediatric patients with a MSE clinic who were ≥7 years old and applied to two tertiary health institutions between November 2015 and June 2016. Fifty healthy children of similar age, who applied to pediatric outpatient clinics for various reasons, were included as the control group. A questionnaire questioning the presence of food allergy and enuresis in the family and also including the questions of International Study of Asthma and Allergies in Childhood (ISAAC) was distributed to the parents of the children included in the study. It was found that 52% of 100 children participating in the study were boys and 48% were girls and their mean age was 10.8±2.8 years. While allergic diseases accompanied 34% of the cases with enuresis, this rate was found as 12% in the control group (p < 0.01). It was determined that the family history in terms of enuresis and atopy was at a higher rate in the study group (40% and 26%, respectively) and at a lower rate in the control group (2% and 6%, respectively) (p < 0.01). It was observed that allergic diseases were more frequent in the cases with MSE at a statistically significant level compared to the group without enuresis.

Severe Neck and Face Edema in an Adolescent-Delayed Hypersensitivity Reaction to Hair Dye.

Allergic contact reactions to hair dyes arise mostly due to sensitization to para-phenylenediamine (PPD). Para-phenylenediamine, a derivative of p-nitroanaline, is widely used as an oxydizable hair dye and is also found in black henna tattoo. Subsequent exposure to PPD may lead to delayed type IV hypersensitivity reaction manifesting as acute contact dermatitis. Here, a 15-year-old girl is presented, who developed a hypersensitivity reaction after first exposure to hair dye. She was found to have been sensitized to PPD before, through application of black henna tatto.

Celiac disease in children and adolescents with Hashimoto Thyroiditis.

AIM: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with Hashimoto thyroiditis (HT). MATERIAL AND METHODS: The data of a total of 80 patients with positive anti-thyroid antibodies who were aged between 6 and 17.9 years were retrospectively studied. Age, gender, complaints at the time of presentation, family history of thyroid disorders, clinical and laboratory findings were recorded. The levels of thyrotropin, free thyroxin, thyroid autoantibodies (thyroid peroxidase and thyroglobulin antibodies), immunoglobulin A (IgA), anti-tissue transglutaminase antibodies (IgA-tTG), and thyroid ultrasonography findings were enrolled. RESULTS: Eighty patients (65 females (81.2%) and 15 males (18,8%)) were included in the study. Family history of thyroid disease was present in 38 (47.5%) patients. The most common complaints at the time of presentation were goiter (%30) and weight gain (%25). Forty three (53.8%), 23 (28.7%), and 14 (17.5%) patients presented with euthyroidism, subclinical hypothyroidism and obvious hypothyroidism. Thirty seven (46.2%) patients had goiter. IgA-tTG was found to be positive after a diagnosis of HT was made in only one patient (1.25%) and the diagnosis of CD was confirmed when intestinal biopsy of this patient revealed villus atrophy, crypt hyperplasia and increase in the intraepithelial lymphocyte count. CONCLUSIONS: In our study, it was found that the most common complaints at presentation in patients with a diagnosis of hashimoto thyroiditis included goiter, weakness and weight gain and the prevalence of celiac diseases was found to be 1.25% (1/80). This study shows that the prevalence of CD in patients with a diagnosis of HT is higher compared to the prevalence in the healthy pediatric population.

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections have also been reported in some patients. OBJECTIVE: Our objective was to assess the effect of mycobacterial disease in patients with CGD. METHODS: We analyzed retrospectively the clinical features of mycobacterial disease in 71 patients with CGD. Tuberculosis and BCG disease were diagnosed on the basis of microbiological, pathological, and/or clinical criteria. RESULTS: Thirty-one (44%) patients had tuberculosis, and 53 (75%) presented with adverse effects of BCG vaccination; 13 (18%) had both tuberculosis and BCG infections. None of these patients displayed clinical disease caused by environmental mycobacteria, Mycobacterium leprae, or Mycobacterium ulcerans. Most patients (76%) also had other pyogenic and fungal infections, but 24% presented solely with mycobacterial disease. Most patients presented a single localized episode of mycobacterial disease (37%), but recurrence (18%), disseminated disease (27%), and even death (18%) were also observed. One common feature in these patients was an early age at presentation for BCG disease. Mycobacterial disease was the first clinical manifestation of CGD in 60% of these patients. CONCLUSION: Mycobacterial disease is relatively common in patients with CGD living in countries in which tuberculosis is endemic, BCG vaccine is mandatory, or both. Adverse reactions to BCG and severe forms of tuberculosis should lead to a suspicion of CGD. BCG vaccine is contraindicated in patients with CGD.

Effects of Quercetin Treatment on Epithelium-derived Cytokines and Epithelial Cell Apoptosis in Allergic Airway Inflammation Mice Model.

Quercetin is a dietary flavonoid which has anti-inflammatory effects. This study aimed to evaluate the influence of quercetin on histopathological aspects and airway epithelium in  allergic airway  inflammation mice model. Twenty-eight BALB/c mice were randomly divided into four groups: Group I (control), Group II (untreated mice with allergic airway inflammation), Group III (allergic airway inflammation quercetin-treated [16mg/kg/day]), Group IV (allergic airway inflammation dexamethasone-treated [1mg/kg/day]). Ovalbumin was administered intraperitoneally and via inhalation to achieve allergic airway inflammation mice model and treatments were also given intraperitoneally. Epithelium thickness, subepithelial smooth muscle thickness, number of mast and goblet cells, and basement membrane thickness were examined on samples isolated from lung. Immunohistochemical evaluationof lung tissues was performed using  IL-25, IL-33, thymic stromal lymphopoietin (TSLP), terminal deoxynucleotidyl transferase-mediated dUTP nick endlabeling (TUNEL) and cysteine-dependent aspartate-specific proteases(caspase)-3 antibodies. IL-4, IL-25, IL-33, TSLP were quantified in bronchoalveolar lavage (BAL) and OVAspecific IgE levels was measured in serum by standard ELISA protocols. IL-25, IL-33, thymic stromal lymphopoietin (TSLP) and cysteine-dependent aspartate-specific proteases (caspase)-3. Quercetin treatment led to lower epithelial thickness, subepithelial smooth muscle thickness, goblet and mast cell numbers compared to untreated  mice with allergic airway inflammation (p<0.05). However, quercetin treatment was not effective on improving basal membane thickness. Immunohistochemical scores of IL-25, IL-33, TSLP, caspase-3 and TUNEL were lower in quercetin-treated mice  t compared to untreated mice with allergic airway inflammation (p<0.05). IL-4, IL-25, IL-33, TSLP levels in BAL and OVA-specific IgE in serum were lower in quercetin treated mice compared to untreated mice (p<0.05). These findings suggest that quercetin improves chronic histopathological changes except basal membrane thickness in lung tissue and its beneficial effects on inflammation might be related to modulating epithelium derived cytokines and epithelial apoptosis.

Efficacy of asthma education program on asthma control in children with uncontrolled asthma.

We aimed to evaluate the efficacy of a group education program on asthma control for children with uncontrolled asthma. Patients were randomized to receive 1-hour group education program with their parents or usual care. Our primary outcome was the change in asthma control test (ACT) between baseline and month 3 and secondary outcomes were health care utilizations and self report of exacerbations of asthma symptoms and missed school days. Change of ACT between baseline and 1st month and 3rd month was not significant in education and usual care groups. Health care utilizations and self reported exacerbations in the study groups were similar while missed school days were significantly higher in usual care group. The results of the study suggest that group education may play a useful role in the management of children with uncontrolled asthma but it is not significantly effective when compared with usual care.

Cyclosporin treatment improves skin findings in omenn syndrome.

Omenn syndrome is a combined immunodeficiency characterized by a generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3-month-old girl was admitted to our hospital with a history of recurrent sepsis. Physical examination revealed severe erythroderma, hepatosplenomegaly, lymphadenopathy, and failure to thrive. Laboratory findings revealed leukocytosis, lymphocytosis with high CD3 T-cells, a high CD4:CD8 ratio, absence of CD19 B-cells, high eosinophil count, and low immunoglobulin levels. A heterozygote RAG1 gene mutation was found. She had itchy, scaling, ichthyosiform erythroderma and protracted diarrhea. Cyclosporin treatment up to 10 mg/kg effectively resolved erythroderma and lowered total eosinophil counts, and she gained weight during treatment. Since extensive erythroderma with generalized itching causes patient discomfort in Omenn syndrome, cyclosporin treatment can be considered while waiting for treatment with hematopoietic stem cell transplantation.

Chanarin-dorfman syndrome with multi-system involvement in two siblings.

UNLABELLED: Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear. CONFLICT OF INTEREST: None declared.

Pulmonary tuberculosis in infants under one year of age.

This study describes the clinical and radiological features of tuberculosis in infants under one year of age. Medical records were reviewed for infants aged 12 months or less with proven tuberculosis. Six patients' data were evaluated. Cough and tachypnea were the major symptom and sign, respectively. Contact with an adult case of tuberculosis was present in five of the cases. Tuberculin skin test was positive in only one case. Mycobacterium tuberculosis was cultured from gastric aspirates of four of five infants and from cerebrospinal fluid in one case. Consolidation was the most common parenchymal lung lesion occurring in four of the patients. Mediastinal or hilar lymphadenopathies were also detected in four of the patients and calcifications were seen within the enlarged nodes in two of them. Antituberculous treatment appeared to be well tolerated without significant adverse effects. Significant radiological improvement was noted after a mean period of 4.6 months.

Characteristics of children with positive tuberculin skin test.

The aim of the study was to define the characteristics of children with latent tuberculosis diagnosed with positive tuberculin skin test (TST) and evaluate potential risk factors in children with positive TST. Children followed with the diagnosis of latent tuberculosis infection were included in the study retrospectively. Demographic characteristics of patients including history of atopy, respiratory infections, family history of tuberculosis and atopy, number of BCG vaccinations, findings of physical examination and laboratory data were extracted from patient's file. Eighty-one children (51 male, 30 female) who had positive TST were retrospectively evaluated in the study. Mean age of the patients was 8.00 ± 4.00 years. Only 13 (16%) of the children had contact with a case who had active tuberculosis. It was shown that the age of the patients, number of BCG scars and BCG vaccination significantly affected TST reaction size. TST size was not affected with time passed after last dose of BCG vaccination, family history of tuberculosis, presence of TST positive case in the family, exposure to cigarette smoke, number of household family members and presence of respiratory allergic disease. The patient's age, numbers of BCG vaccination and BCG scars significantly affect TST results in childhood. This may cause difficulty in diagnosing latent tuberculosis infection and in decision of initiating prophylactic treatment. The results of this study may show that recently developed, more accurate and convenient in vitro tests that they have higher costs and require sophisticated laboratory, can be used to diagnose latent tuberculosis.

Performance of tuberculin skin test and interferon gamma assay for the diagnosis of latent tuberculosis infection in juvenile idiopathic arthritis.

The objective of this prospective cross-sectional study was to compare a Mycobacterium tuberculosis-specific interferon gamma (IFN-γ) enzyme linked immunosorbent assay [QuantiFERON-TB Gold In-Tube (QFT-GIT)] test with tuberculin skin test (TST) for detection of latent tuberculosis infection (LTBI) in patients with juvenile idiopathic arthritis (JIA). To our knowledge, this is the first study evaluating the performance of QFT-GIT in comparison with TST in JIA. A cross-sectional study of 39 children with JIA and 40 healthy controls was conducted in Izmir, Turkey. Blood was for drawn for the QFT-GIT assay prior to administration of the TST using 5 tubercullin units (TU) of purified protein derivative (PPD-S). A positive TST was defined as ≥10 mm for JIA and ≥15 mm for controls. Statistical analysis was performed using SPSS version 16.0 for Windows. There were no significant differences between JIA patients and controls for age, sex, and Bacillus Calmette-Guérin (BCG) vaccination. Of patients, 70% had active JIA disease. The median TST induration was 5.8 mm (±5.7 mm) for JIA and 10.7 mm (±4.5 mm) for the control group, which was statistically significant (p = 0.000). The rate of patients who showed no reaction to TST was 38%, of which 93% had active disease. There were two patients who had positive IFN-γ results but negative TST, who had systemic and polyarticular type JIA, respectively. Overall agreement between TST and QFT-GIT was low both in JIA and control group (κ value =0.06 and 0.10, respectively). TST may be inadequate to diagnose LTBI in JIA patients. The IFN-γ assay may be useful to identify false negative TST response in cases with latent M. tuberculosis infection. The combination of IF QFT-GIT method with TST would provide successful diagnostic screening for LTBI in JIA, particularly prior to anti-tumor necrosis factor treatment. Long-term prospective studies are still necessary to appreciate the advantages and the applicability of these tests in pediatrics.

Infection caused by Nocardia farcinica mimicking pulmonary metastasis in an adolescent girl.

Nocardia farcinica infections are rare and potentially life threatening. Herein, we describe a case of pulmonary nocardiosis caused by N. farcinica. This 13-year-old girl admitted with 1-year history of cough, intermittent fever, and recurrent hemoptysis. She was examined for multiple pulmonary nodules mimicking pulmonary metastasis that were detected with chest radiography and computed tomography of the thorax. Eventually, N. farcinica was yielded in culture of sputum and aspiration material of pulmonary nodules. No predisposing factor could be shown for Nocardia infection. Although infections caused by N. farcinica have tendency to disseminate, and are mostly resistant to antibiotics, the patient was successfully treated with prolonged intravenous antibiotic therapy followed with oral amoxicillin-clavulanate.

Chlamydia pneumonia mimicking miliary tuberculosis.

Chlamydia trachomatis is a common cause of subacute, afebrile pneumonia with onset from 1 to 3 months of age. On physical examination, crepitant inspiratory rales are commonly heard. Infiltration is usually bilateral and interstitial; reticulonodular pattern and atelectasis have also been described, which distinct the disease from miliary tuberculosis. We report an infant who had a disseminated miliary pattern in the chest radiograph and computed tomographic scan of the thorax that was diagnosed as Chlamydia pneumonia with serologic investigations. We emphasized that Chlamydia trachomatis can cause a miliary reticulonodular pattern in radiological examinations of infants who were admitted with respiratory symptoms. We suggest that pneumonia due to C. trachomatis should be kept in mind in the differential diagnosis of infants examined because of a diffuse miliary pattern.