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The impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study.

Orphanet J Rare Dis

December 2024

Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, Piazza Leonardo da Vinci, 20133, Milan, Italy.

Introduction: Osteogenesis Imperfecta (OI) is characterised by brittle bones, severe skeletal deformities, low sleep quality, and restricted breathing. We aimed to distinguish how disease and obesity affect these results.

Methods: According to BMI, we considered four groups of peer adults (median age: 35.

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Background: Studies on the survival of patients with home mechanical ventilation (HMV) are sparse. We aimed to analyse the impact of controlled hypercapnia on survival over 27 years among patients with HMV in Sweden.

Study Design And Methods: Population-based cohort study of adult patients starting HMV in the Swedish Registry for Respiratory Failure (Swedevox) during 1996-2022 cross-linked with the National Cause of Death registry.

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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.

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Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare syndrome presenting in early childhood associated with a high risk of mortality between 50 and 60%. It is characterised by rapid, early onset of obesity between 1.5-7 years, along with central hypoventilation and hypothalamic dysfunction, such as central hypothyroidism, hyperprolactinemia, disorders of sodium and water balance, growth hormone deficiency, adrenocortical insufficiency, or disorders of puberty and features of autonomic dysregulation.

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