Clinical Evaluation of Pediatric Patients with Hereditary Angioedema.

Hereditary angioedema is a rare, potentially life-threatening disease. There is a lack of data describing the clinical course of hereditary angioedema (HAE) in children. We aimed to evaluate the clinical characteristics of pediatric patients with hereditary angioedema: The age of disease onset, age at diagnosis, the frequency of angioedema attacks, the total number of attacks before diagnosis, the regions where angioedema attacks were observed, accompanying abdominal pain, and serum levels of C4 and C1 esterase inhibitor were obtained and recorded. In addition, the results of SERPING1 (C1INH) gene sequence analysis of the patients in this group were also collected from medical records and recorded. While none of the patients reported a skin rash as a symptom of attack, there was formication observed in the region of angioedema in 46.9% (n = 15) of the patients and pruritus in 6.2% (n = 2) of the patients. At disease onset, the complaints of the patients regarding location of edema were on the hands of 32.3% (n = 10), on the feet of 9.7% (n = 3), on the faces of 25.7% (n = 8), and abdominal attacks in 32.3% of the patients (n = 10). Four different variants, one of which was novel, were detected in the SERPING1 gene in eight different families. The results of this study suggest that hereditary angioedema is diagnosed only when the patient requests examination following recurrent angioedema. Severe laryngeal edema attacks in patients without a diagnosis of HAE are fatal at a higher rate than attacks in patients with a diagnosis. Thus, awareness of the symptoms of HAE is necessary, and correct diagnosis is essential to proper treatment.

Impulse oscillometry in acute and stable asthmatic children: a comparison with spirometry.

OBJECTIVE: Lung function tests have attracted interest for the diagnosis and follow-up of childhood asthma in recent years. For patients who cannot perform forced expiratory maneuvers, impulse oscillometry (IOS), performed during spontaneous breathing, may be an alternative tool. METHODS: Thirty-five acute, 107 stable asthmatic and 103 healthy children who presented to our clinic performed IOS followed by spirometry before and after salbutamol inhalation. The mean baseline and reversibility of IOS and spirometry parameters were compared between the groups. Correlation analyses were undertaken within the asthmatics, and the healthy controls separately. To distinguish the three groups, the sensitivity and specificity of baseline and reversibility values of IOS and spirometry were computed. When spirometry was taken as the gold standard, the discriminating performance of IOS to detect the airway obstruction and reversibility was investigated. RESULTS: The mean absolute values of Zrs, R5, R5-R20, X5, X10, X15, Fres, AX, and all spirometric parameters, and the mean reversibility values of R5, R10, Fres, AX and forced expiratory volume in one second were different between the groups and the highest area under curve values to discriminate the groups was obtained from area of reactance (AX) and ΔAX. Zrs, all resistance (including R5-R20) and reactance parameters, Fres and AX were correlated with at least one spirometric parameter. Spirometric reversibility was detected by ≤-22.34 and ≤-39.05 cut-off values of ΔR5 and ΔAX, respectively. CONCLUSIONS: IOS has shown a highly significant association with spirometric indices and reversibility testing. It may be a substitute for spirometry in children who fail to perform forced expiratory maneuvers.

Once or consecutive administration of inhaled salbutamol in children with acute asthma exacerbation: Is an additional dose beneficial?

BACKGROUND: Although international guidelines generally recommend the back to back use of short-acting ß-agonizts (SABA) within a short time in the management of acute wheezing in children with asthma, there is still uncertainty in the evidence of short term outcome. Thus, this study aimed to investigate the efficacy of back to back and single use of inhaled SABA by lung function testing. METHODS: This was a prospective, double-blinded, placebo controlled study conducted in children ≥6 years of age with a history of asthma. Children who presented with an acute asthma exacerbation (AAE) with a forced expiratory volume in 1 s (FEV1) between 40% to 60% were enrolled in the study if they had a first dose to SABA response of FEV1 ≥ 12%. All children were then randomly assigned either to receive two additional doses of inhaled SABA (300 µg per dose) or placebo. Spirometric analysis included forced vital capacity (FVC), FEV1, FEV1/FVC, PEF, and FEF25-75 at baseline, 15, 30, and 45 min for each group. Oxygen saturation and heart rate were monitored during the study period. RESULTS: A total of 93 patients (inhaled SABA group; n = 48 vs. placebo group; n = 45) out of 110 enrolled patients completed the study. Baseline demographic characteristics of patients include age, gender, age of diagnosis, parental asthma, history of allergic rhinitis and atopic dermatitis, current asthma treatment, IgE and skin prick test were similar among groups. (p > .05) When lung function parameters were compared at each time interval during the study period, there were no statistical significance found in FVC, FEV1, FEV1/FVC, PEF and forced expiratory flow between 25% and 75% (FEF25-75) among groups. (p > .05) There were also no differences between groups for changes in heart rate and oxygen saturation. (p > .05) CONCLUSION: A single dose of inhaled SABA provides similar short term bronchodilator effect as back to back administration of inhaled SABA in children with AAE who showed an initial response to SABA of FEV1 ≥ 12%.

Relationship Between the Type of Allergen and Night Sweat in Allergic Children.

BACKGROUND: Atopic diseases can accompany allergic sensitization. The amount of allergen is as important to know since allergen exposure affects sensitization development. Some allergic children complain of intense sweating during the first few hours of transition to sleep especially at night. This study was carried out to investigate the relationship between the type of allergen to which children are sensitized and night sweating. METHODS: Children aged two to 18 years old with single allergic sensitization were included. A specific immunoglobulin E (IgE) skin prick test results were obtained from the medical records of the patients. Then, the patients' families were asked to evaluate the levels of sweating from 0 to 10 with the Visual Analogue Scale (VAS) questionnaire and the Sleep Disturbance Scale for Children (SDSC). RESULTS: Sensitization to mites was more prevalent in the group of patients with night sweating (p<0.001), and pollen allergy was more prevalent in the group of patients without night sweating (p<0.001).  Conclusion: The amount of mites and wetness in bed sheets might be responsible for allergic sensitization. A change in clothes and bed sheets for those with intense sweating might ensure better sleep and reduce the severity of the atopic symptoms. Such a recommendation might provide a better clinical outcome in these patients.

EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.

Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Case Presentation: Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in EXTL3 gene. Conclusions: ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.

As a potential treatment of COVID-19: Montelukast.

It has been hypothesized that Montelukast, a cysteinyl leukotriene (cysLT) receptor antagonist, with effects of anti-inflammatory, suppress oxidative stress and reduce affect cytokine production, may limited progression of the disease on COVID-19 infection.

Congenital pseudoarthrosis of clavicula.

Right clavicula fracture was found in a male patient who was brought to our outpatient clinic at the age of 7 days with a complaint of swelling on the right clavicula. The patient had no history of difficult delivery or resuscitation. He was born at term by spontaneous vaginal delivery with a birth weight of 3 340 g from the first pregnancy of his mother and there was no consanguinity between the parents. Orthopaedic examination repeated at the age of 2 months revealed pathological movement in the middle of the clavicula and a swelling with a diameter of 1 cm. There was no tenderness. Asymmetry was noted between the shoulders, but range of motion was normal in both shoulders. On radiographic examination, it was observed that the proximal and distal fragment in the middle region of the clavicula were displaced by 1 cm and there was no callus. It was noted that the medial end of the distal fragment was blunt and sclerotic. There was no other pathology related with the musculosketal system. Examination of the other systems was found to be normal. Thus, a diagnosis of congenital clavicula pseudoarthrosis was made. This condition is rare and there are less than 200 cases in the literature. Congenital clavicula pseudoarthrosis almost always develops on the right side. Pseudoarthrosis was also on the right side in our patient. It is rarely bilateral (10%). It rarely occurs on the left clavicula and is usually associated with dextrocardia. Familial association is present in very few of the reported cases, but there is no genetic background. It is rarely diagnosed in the neonatal period. The diagnosis was made in the neonatal period in our patient. Shoulder functions are not affected, but painful deformity, cosmetic problems or thoracic outlet syndrome may be observed in the adolescence and afterwards.