RESUMEN
Fragile X syndrome (FXS) is a hereditary disease that predominantly leads to intellectual disability (ID) in boys. It is the second prominent cause of ID, which manifests as a result of the atypical development of the cytosine-guanine-guanine (CGG) region. This irregular extension of the CGG region gives rise to methylation and silencing of the fragile X mental retardation 1 (FMR1) gene, causing a loss of the fragile X mental retardation 1 protein (FMRP). This reduction or loss of FMRP is the main cause of ID. It has a multisystemic involvement showing neuropsychiatric features such as ID, speech and language delay, autism spectrum disorder, sensory hyperarousal, social anxiety, abnormal eye contact, shyness, and aggressive behaviour. It is also known to cause musculoskeletal symptoms, ocular symptoms, cardiac abnormalities, and gastrointestinal symptoms. The management is challenging, and there is no known cure for the disease; hence an early diagnosis of the condition is needed through prenatal screening offered to couples with familial history of ID before conception. The management rests on non-pharmacological modalities, including applied behaviour analysis, physical therapy, occupational therapy, speech-language therapy, and pharmacologic management through symptomatic treatment of comorbid behaviours and psychiatric problems and some forms of targeted therapy.
RESUMEN
BACKGROUND: Community-acquired pneumonia (CAP) is associated with significant morbidity and mortality. Non-invasive ventilation (NIV) and invasive mechanical ventilation (IMV) are most important interventions for patients with severe CAP associated with respiratory failure. We analysed utilization trends and predictors of non-invasive and invasive ventilation in patients hospitalized with CAP. METHODS: Nationwide Inpatient Sample and Healthcare Cost and Utilization Project data for years 2008-2017 were analysed. Adult hospitalizations due to CAP were identified by previously validated International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) and International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) codes. We then utilized the Cochran-Armitage trend test and multivariate survey logistic regression models to analyse temporal incidence trends, predictors, and outcomes. We used SAS 9.4 software (SAS Institute Inc., Cary, NC, USA) for analysing data. RESULTS: Out of a total of 8,385,861 hospitalizations due to CAP, ventilation assistance was required in 552,395 (6.6%). The overall ventilation use increased slightly; however, IMV utilization decreased, while NIV utilization increased. In multivariable regression analysis, males, Asian/others and weekend admissions were associated with higher odds of any ventilation utilization. Concurrent diagnoses of septicemia, congestive heart failure, alcoholism, chronic lung diseases, pulmonary circulatory diseases, diabetes mellitus, obesity and cancer were associated with increased odds of requiring ventilation assistance. Ventilation requirement was associated with high odds of in-hospital mortality and discharge to facility. CONCLUSION: The use of NIV among CAP patients has increased while IMV use has decreased over the years. We observed numerous factors linked with a higher use of ventilation support. The requirement of ventilation support is also associated with very high chances of mortality and morbidity.