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result(s) for
"Hyatali, Saara A."
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Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management
by
Rashed, Adam
,
Collison, Rachael
,
Kumar, Kartik
in
CME: Respiratory Medicine
,
Internal Medicine
2025
•Recent improvements in genetic testing have shown a greatly increased prevalence of PCD, suggesting a significant cohort of undiagnosed patients.•PCD should be considered in individuals with a history neonatal respiratory distress, a chronic productive cough, chronic rhinosinusitis and organ laterality defects.•Diagnosis of PCD is contingent on identifying specific clinical symptoms and investigations such as nasal nitric oxide, ciliary microscopy and genetic testing.•Clinical management should focus on airway clearance and robust treatment of acute infections.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectasis as well as subfertility. This review provides an overview of PCD for clinicians. We discuss its aetiology, its presentation, how it is diagnosed and its multidisciplinary clinical management.
Journal Article
Miliary Tuberculosis Presenting with ARDS and Shock: A Case Report and Challenges in Current Management and Diagnosis
2017
Miliary tuberculosis, complicated by ARDS and septic shock, is a rare and lethal presentation of this disease. Here we present a case of such a patient, following which we discuss the management of tuberculosis in the ICU and some of the challenges that may be faced. A young HIV negative female presented to us with an acute history of worsening shortness of breath on a background of weight loss, nonproductive cough, and fever. CXR and CT scan showed bilateral miliary type opacities and the patient was admitted to the hospital. Within forty-eight hours of admission she became hypoxemic and was intubated and transferred to the ICU. There she experienced worsening organ dysfunction and developed circulatory shock. Despite escalating doses of noradrenaline, she continued to decline and died before specific anti-TB treatment could be started. Timely diagnosis and treatment initiation are the keys to improving outcomes in critically ill TB patients. However there are many challenges in doing so, especially in a general ICU located in a country with a low TB incidence.
Journal Article