Smith-Magenis syndrome (SMS) is a genetic disorder characterized by intellectual disability, behavioral challenges, and distinctive physical abnormalities. This case report describes a patient with SMS who presented with pneumonia and was found to have chronic hypercapnic respiratory failure, attributed to kyphoscoliosis and obesity-related conditions such as obesity hypoventilation syndrome and obstructive sleep apnea. Following treatment with non-invasive ventilation (NIV), the patient's baseline oxygen levels improved, and she was discharged with domiciliary NIV and respiratory follow-up.
View Article and Find Full Text PDFJ Family Med Prim Care
July 2024
Objectives: Coronavirus disease 2019 (COVID-19) emerged as a global pandemic during 2019 to 2022. The gold standard method of detecting this disease is reverse transcription-polymerase chain reaction (RT-PCR). However, RT-PCR has a number of shortcomings.
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