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.

Is There an Optimal Training Interval to Improve the Correct Use of Adrenaline Auto-Injectors?

BACKGROUND: Accurate use of adrenaline auto-injectors (AAIs) for anaphylaxis is critical to decrease mortality and morbidity. OBJECTIVE: In this study, we aimed to assess user knowledge of AAIs and evaluate the factors that affect their correct use. METHODS: The study involved caregivers of pediatric patients diagnosed with anaphylaxis who were trained with trainer injectors up to 24 months ago. The demographics of the caregivers, anaphylaxis history of the patients, usage of AAIs in the case of anaphylaxis, and the reasons for not using AAIs in anaphylaxis were evaluated. Users were asked to demonstrate the use of Penepin® with a trainer injector. RESULTS: Fifty-nine caregivers were enrolled in the study. Forty-seven (79.7%) users stated that they always carry AAIs with them. Forty-one (69.5%) of the users demonstrated all steps of the use of AAIs. The time from the last AAI training was the most significant parameter affecting the ability to use AAIs correctly (OR 0.678, 95% CI 0.546-0.841, p < 0.0001). AAI training every 6 months results in the proper usage of AAIs, with 96% probability. Thirty (50.8%) caregivers stated that anaphylactic reactions occurred in their children after the last AAI training. Of these, 16 (53.3%) users stated that they did not use an AAI for the anaphylactic reaction. The most common reason (50%) was not carrying an AAI on their person. CONCLUSION: Training users at least every 6 months is associated with the proper application of AAIs. Although regular training increases the frequency of AAI use in anaphylaxis, awareness of carrying AAIs is the most important factor for usage of AAI in anaphylaxis.

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.

The efficiency of the symptom-based score in infants diagnosed with cow's milk protein and hen's egg allergy

Introduction and objectives: Symptom-based score (SBS) quantifies the number and severity of suspected cow's milk-related symptoms. In this study, we aimed to evaluate the efficiency of SBS in patients diagnosed with cow's milk protein (CMPA) and hen's egg allergy (HEA). Materials and methods: A single-center study was conducted between June 2015 and August 2017. Infants who were diagnosed with CMPA and HEA or both were enrolled in the study. SBS was applied at baseline and at one month during an elimination diet. Results: One hundred and twelve patients were enrolled in the study. Of these, 56 (50%) were female. Forty-nine (43.8%) patients were diagnosed with CMPA, 39 (34.8%) patients were diagnosed with HEA and 24 (21.4%) patients were diagnosed with cow's milk protein and hen's egg allergy (CMPHEA). In the analysis of SBS, median Bristol scale and initial total symptom-based scores were significantly lower in the HEA group than others (p = 0.002; p = 0.025). After the elimination diet, mean SBS decrease in the CMPHEA group (11.3 ± 4.7) was found to be higher than CMPA (8.8 ± 3.7) and HEA (8.0 ± 4.0) groups (p = 0.009). In 41 (83.7%) patients with CMPA, 33 (84.6%) patients with HEA and 21 (87.5%) patients with CMPHEA, a ≥ 50% decrease in SBS was observed after the elimination diet. Conclusion: We may conclude that the present study suggests that SBS can be useful in monitoring the response to elimination diet in infants diagnosed with cow's milk protein and hen's egg allergy

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The efficiency of the symptom-based score in infants diagnosed with cow's milk protein and hen's egg allergy.

INTRODUCTION AND OBJECTIVES: Symptom-based score (SBS) quantifies the number and severity of suspected cow's milk-related symptoms. In this study, we aimed to evaluate the efficiency of SBS in patients diagnosed with cow's milk protein (CMPA) and hen's egg allergy (HEA). MATERIALS AND METHODS: A single-center study was conducted between June 2015 and August 2017. Infants who were diagnosed with CMPA and HEA or both were enrolled in the study. SBS was applied at baseline and at one month during an elimination diet. RESULTS: One hundred and twelve patients were enrolled in the study. Of these, 56 (50%) were female. Forty-nine (43.8%) patients were diagnosed with CMPA, 39 (34.8%) patients were diagnosed with HEA and 24 (21.4%) patients were diagnosed with cow's milk protein and hen's egg allergy (CMPHEA). In the analysis of SBS, median Bristol scale and initial total symptom-based scores were significantly lower in the HEA group than others (p=0.002; p=0.025). After the elimination diet, mean SBS decrease in the CMPHEA group (11.3±4.7) was found to be higher than CMPA (8.8±3.7) and HEA (8.0±4.0) groups (p=0.009). In 41 (83.7%) patients with CMPA, 33 (84.6%) patients with HEA and 21 (87.5%) patients with CMPHEA, a ≥50% decrease in SBS was observed after the elimination diet. CONCLUSION: We may conclude that the present study suggests that SBS can be useful in monitoring the response to elimination diet in infants diagnosed with cow's milk protein and hen's egg allergy.

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.

The Effect of Rapid Antigen Detection Test on Antibiotic Prescription Decision of Clinicians and Reducing Antibiotic Costs in Children with Acute Pharyngitis.

We aimed to investigate the effect of rapid antigen detection test (RADT) in the diagnosis of streptococcal pharyngitis, its impact on antibiotic prescription decision of pediatricians and influence on reduction of antibiotic treatment costs in children with pharyngitis. The study group consisted of 223 patients who were diagnosed with pharyngitis by pediatricians. The sensitivity and specificity of RADT were 92.1% (95% Cl: 78.6-98.3%) and 97.3% (95% Cl: 93.8-99.1%), respectively. In the first assessment, before performing RADT, pediatricians decided to prescribe antibiotics for 178 (79.8%) patients with pharyngitis. After learning RADT results, pediatricians finally decided to prescribe antibiotics for 83 (37.2%) patients with pharyngitis, and antibiotic prescription decreased by 42.6%. Antibiotic costs in non-Group A streptococcus pharyngitis, Group A streptococcus pharyngitis and all subjects groups decreased by 80.8%, 48%, and 76.4%, respectively. Performing RADT in children with pharyngitis has an important impact on treatment decision of clinicians, reduction of unnecessary antibiotic prescriptions and antibiotic costs.

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.

A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia, partially compensated metabolic acidosis, alkaline urine and nephrocalsinosis), a diagnosis of distal renal tubular acidosis (dRTA) was made. Then, the audiogram revealed a bilateral sensorineural hearing loss (SNHL). On follow-up, bilateral SNHL progressively worsened requiring the need for hearing aid. The ATP6V0A4 gene mutation analysis showed homozygote Val2Ala mutation. To the best of our knowledge, this is the first report describing a Turkish girl with dRTA who suffered from early-onset SNHL caused by Val2Ala mutation in the ATP6V0A4 gene.

The effect of circumcision on the frequency of urinary tract infection, growth and nutrition status in infants with antenatal hydronephrosis.

The objective of this study was to determine the effect of circumcision on the frequency of urinary tract infection (UTI), growth development, and the nutrition status in infants with antenatal hydronephrosis (AH). The data were collected prospectively between 1998 and 2010. Infants with a fetal pelvis diameter of >5 mm identified with antenatal ultrasound were followed-up. Body height and weight were expressed as HZ scores (observed height - median height/standard deviation) and WZ scores (observed weight - median weight/Standard deviation). The nutritional status was evaluated and the body weight was transformed to a weight-for-height index (WHI = weight/median weight for the height age × 100). The HZ and WZ scores or WHI were calculated for each patient at the first and last visits. The chi-square and Student's t tests were used for statistical analysis. A p value <0.05 was considered significant. The study included 178 (134 males, 44 females) patients. Of these, 29 were diagnosed by vesicoureteral reflux (VUR), 87 by obstructive uropathy, and 54 by normal. Of 134 males, 111 infants were circumcised. The mean monitoring time was 45±24.9 months and the mean age of circumcision was 14 ± 16.06 months. The pre-circumcision UTI frequency (2.97 ± 1.14/y) was significantly higher than post-circumcision period (0.25 ± 0.67/y) (p < 0.05). Also, pre-circumcision UTI frequency (2.97 ± 1.14/y) was significantly higher than the UTI frequency observed in female cases (0.85 ± 0.91/y) and in the overall study group (0.73 ± 0.79/y) (p < 0.05). In all patients, the HZ of the circumcised subjects (0.18 ± 1.01) was statistically higher than uncircumcised subjects (-0.26 ± 0.92) (p < 0.05). Although statistically insignificant, the HZ of the circumcised males (0.13 ± 1.24) with VUR was higher than the uncircumcised patients (0.03 ± 0.55) (p > 0.05). In obstructive uropathy groups, the HZ of the circumcised males (-0.13 ± 0.54) was also found to be higher than uncircumcised males (-0.49 ± 0.66) (p < 0.05). Although nutrition scores were found to be better in circumcised males, no statistically significant effect of circumcision on the nutrition status was detected. In conclusion, postnatal early circumcision of infants with AH seems to prevent frequent UTIs and nutritional disturbances enabling normal growth.

Severe renal osteodystrophy in a pediatric patient with end-stage renal disease: Sagliker syndrome?

Renal osteodystrophy (ROD) is a multifactorial disorder of bone metabolism in chronic kidney disease (CKD). As CKD progresses, ensuing abnormalities in vitamin D metabolism and parathyroid hormone (PTH) secretion result in distortions in trabecular microarchitecture, thinning of the cortical shell, and increased cortical porosity. The recently described Sagliker syndrome (SS) might be an exaggerated version of ROD and is a very striking and prominent feature of secondary hyperparathyroidism in patients with end-stage renal disease (ESRD). It includes a distorted facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissue tumors in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurologic and psychological problems. We herein describe an affected 14-year-old girl with severe ROD resulting from ESRD, who had severe peripheral and central neurologic problems caused by bone deformities, mimicking the features of Sagliker syndrome.