We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted. CONCLUSION Despite its rarity, primary ciliary dyskinesia should be considered in unexplained cases of neonatal distress.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/BF01954280 | DOI Listing |
Respir Res
January 2025
Department of Anesthesiology, The Second Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, 210011, Jiangsu Province, China.
Background: Sepsis is a systemic inflammatory response caused by infection. When this inflammatory response spreads to the lungs, it can lead to acute lung injury (ALI) or more severe acute respiratory distress syndrome (ARDS). Pulmonary fibrosis is a potential complication of these conditions, and the early occurrence of pulmonary fibrosis is associated with a higher mortality rate.
View Article and Find Full Text PDFCommun Biol
January 2025
Department of Medicine, Universite de Montreal, Montreal, QC, Canada.
Severe COVID-19 can trigger a cytokine storm, leading to acute respiratory distress syndrome (ARDS) with similarities to superantigen-induced toxic shock syndrome. An outstanding question is whether SARS-CoV-2 protein sequences can directly induce inflammatory responses. In this study, we identify a region in the SARS-CoV-2 S2 spike protein with sequence homology to bacterial super-antigens (termed P3).
View Article and Find Full Text PDFHum Genome Var
January 2025
Division of Molecular Genetics, Center for Medical Science, Fujita Health University Hospital, Toyoake, Aichi, Japan.
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms.
View Article and Find Full Text PDFJ Transl Med
January 2025
Emergency Department, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510630, China.
Background: Acute respiratory distress syndrome (ARDS) is a life-threatening and heterogeneous disorder leading to lung injury. To date, effective therapies for ARDS remain limited. Sepsis is a frequent inducer of ARDS.
View Article and Find Full Text PDFIntern Emerg Med
January 2025
Department of Anaesthesia and Intensive Care, Copenhagen University Hospital - Bispebjerg and Frederiksberg, Bispebjerg Bakke 23, 2400, Copenhagen NV, Denmark.
Identifying frequent users of Emergency Medical Services (EMS) in the post-discharge period can potentially direct interventions to prevent deterioration at home. This study aimed to describe the frequency of post-discharge emergency phone calls within 30 days after common medical and surgical categories of hospital admission. A retrospective cohort study retrieved data from the electronic medical record and the EMS Capital Region Denmark database after approval by the Danish Health Data Authority.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!