The efficacy of nebulized salbutamol, hypertonic saline and salbutamol/hypertonic saline combination in moderate bronchiolitis

WOS: 000297778700001PubMed ID: 21978929Background: The mainstay of treatment in bronchiolitis includes oxygenation, aspiration of secretions from the respiratory tract and maintenance of hydration. The first choice medical agent in clinical practice is nebulized bronchodilators, although their place in treatment is controversial. Objectives: We investigated the therapeutic benefit of nebulized hypertonic (3%) saline (HS), by comparing four different nebulized regimens in the treatment of bronchiolitis in the emergency department. Methods: A total of 120 infants were included in this randomized, double-blind, prospective study. Infants were grouped according to the nebulized treatment they received: group 1 - salbutamol + normal saline (NS), group 2 - salbutamol + HS, group 3 - HS, group 4 - NS. Heart beat, Clinical Bronchiolitis Severity Score (CBSS) and oxygen saturation of the patients were determined before and after the nebulizations and at 48-72 h after admission by the designated study physician. Results: Post-treatment mean CBSS were significantly lower than pre-treatment scores in all groups (p = 0.0001) with no significant difference within groups. Improvement percentages for CBSSs were significantly higher in infants without a history of atopy treated with HS and NS (p = 0.023, p = 0.0001, respectively). Conclusions: The CBSSs of all the infants improved after three doses of nebulized therapy regardless of the treatment regimens. The combination of salbutamol with hypertonic saline did not lead to an additive effect in the improvement of CBSSs compared to the standard salbutamol + NS combination. Atopic children benefited from salbutamol/NS combination whereas non-atopic children improved with HS and NS nebulizations based on improvement percentages of CBSS

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy

Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functionsfollowing infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.1297G>A (p.Gly433Ser) alteration in BEND4, which was predicted to be deleterious in in silico analysistools and segregated in multiple affected individuals in the family. BEND4 has not been associated with any existing disease. Immunofluorescence microscopy analysis of wildtype and mutant BEND4 expressing Vero cells showed nuclearand cytoplasmic localization. Wild-type BEND4 displayed a network-like distribution, whereas mutant BEND4 showed a juxtanuclear distribution pattern. Differential proteome analysis of Vero cells expressing BEND4 revealed that mutantBEND4 expression caused selective increase in reticulocalbin- 1 and endoplasmic reticulum resident protein-29. Both proteins are associated with the endoplasmic reticulum and are primarily involved in protein processing and foldingpathways. Any defect or stress in protein folding creates stress on cells and may cause chronic damage. This is the first study showing that pathogenic BEND4 variants may lead to an infection-induced acute necrotizing encephalopathy asdemonstrated in characteristic neuroimaging findings