Search results for "Lung Disorder"

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Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

2019

Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disord…

Lung DiseasesMalePathologymedicine.medical_specialtyFilaminsmedicine.medical_treatmentChildren; Congenital enphysema; Filamin a; Lung disease; Periventricular nodular heterotopiaCase ReportFilaminKeywords: Filamin a Congenital enphysema Lung disease Children Periventricular nodular heterotopiaFilamin aLung Disorder03 medical and health sciences0302 clinical medicineNeuroimagingLoss of Function Mutation030225 pediatricsmedicineHumansFLNA030212 general & internal medicineLungChildrenCongenital enphysemaGenetic testingMechanical ventilationLungmedicine.diagnostic_testbusiness.industrylcsh:RJ1-570BrainInfantlcsh:Pediatricsrespiratory systemRespiration ArtificialPeriventricular nodular heterotopiamedicine.anatomical_structurePulmonary EmphysemaRespiratory failureLung diseasePediatrics Perinatology and Child HealthRadiography ThoracicRespiratory InsufficiencyTomography X-Ray ComputedbusinessBMC Pediatrics
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Evaluation of low dose anaphylatoxic peptides in the pathogenesis of the adult respiratory distress syndrome (ARDS). Monitoring of early C5a effects …

1986

A guinea-pig in vivo model is presented that allows the infusion of purified C5a via a central vein catheter and the monitoring of its effects on granulocytes and platelets, the most important cells in the pathogenesis of several lung disorders, e.g. shock lung. After the infusion of C5a, which was adjusted to a quantity that caused slight and transient alterations of lung physiology, granulocytes disappeared from circulation within 1 min. Simultaneously the granulocyte content of the lung increased about three-fold as judged by histological evaluations. Morphologic destructions were not observed. After the drop a rebound of circulating Polymorpho-nuclear leucocytes (PMN) occurred, which wa…

MaleARDSPathologymedicine.medical_specialtyGuinea PigsClinical BiochemistryComplement C5aGranulocyteBiochemistryPathogenesisLung DisorderLeukocyte CountIn vivomedicineAnimalsInfusions IntravenousLungRespiratory Distress SyndromeLungRespiratory distressPlatelet Countbusiness.industryComplement C5General Medicinerespiratory systemmedicine.diseaseDisease Models Animalmedicine.anatomical_structureFemaleBone marrowbusinessGranulocytesEuropean Journal of Clinical Investigation
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