7 research outputs found
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test
Objectives: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogeneity of the clinical manifestations. In this study, DNA extracted from archival postmortem formalin-fixed paraffin-embedded tissues was used to identify Pompe disease mutations in Oman and develop a rapid molecular-based test. Methods: Intronic primers were designed to amplify short fragments (193–454 base pairs [bp]) from coding exons (2–20) and screen for mutations using direct sequencing (DS). Results: Two mutations known to cause severe disease were identified in two infants. One was a coding mutation, c.2560C>T (p.Arg854X), and the second was found at a splice acceptor site, c.1327-2A>G. Polymerase chain reaction- and restriction fragment length polymorphism-based tests were designed for the rapid genotyping of the identified mutations. Conclusion: These tests can facilitate prenatal diagnosis and help in identifying carriers in families with the identified mutations
The rapid response team in outpatient settings identifies patients who need immediate intensive care unit admission: A call for policy maker
Background: Caregivers in the ambulatory care setting with differing clinical background could encounter a patient at high risk of deterioration. In the absence of a dedicated acute care team, the response to an unanticipated medical emergencies in these settings is likely to have a poor outcome. Objective: To describe our experience in implementing an intensivist-led rapid response team (RRT) in the outpatient settings that identified patients who needed immediate Intensive Care Unit (ICU) admission. The effect on in hospital arrests, mortality, and ICU outcome is not the scope of this study. Materials and Methods: This retrospective descriptive study was performed from January 1, 2009 to December 31, 2011 in a tertiary hospital. Data from hospital records were used (none from patients′ records). Consent was not needed. Measurements: Direct ICU admissions from the outpatient areas. Results: There were 90 patients cared for by RRT in the outpatient′s settings, 76 adult, and 14 pediatric patients. A total of12 adult patients were transferred directly to ICU. Among the patient who were transferred to the emergency department, additional four patients required to be transferred to ICU (total 16 patients [17.7%], 15 adult, and one pediatric patient). Follow-up at 24 h in the ICU showed death of one adult oncology patient (6.25%), and discharge of two patients (12.5%). Nine patients (81%) were still sick to require longer ICU stay. Conclusion: Intensivist-led RRT in outpatient settings identifies patients who are critically ill and in need of immediate ICU admission. Thus, an intensivist-led RRT policy in the outpatient settings needs to be implemented hospital wide
Acquired hypernatremia in a general surgical Intensive Care Unit: Incidence and prognosis
Purpose: Intensive Care Unit (ICU)-acquired hypernatremia (IAH) is a serious electrolyte disturbance that recently was shown to present an independent risk factor for mortality in critically ill patients. IAH has not been widely investigated in Surgical ICU (SICU) patients. No study has specifically investigated IAH epidemiology in the Kingdome of Saudi Arabia (KSA) in general SICU. The objectives of this study are to assess the epidemiological characteristics and prognostic impact of IAH on SICU mortality and outcome in KSA and compare it with international figures.
Materials and Methods: A retrospective observational study on a prospectively collected data of patients (14 years of age or older) admitted to SICU over 2 years, with normal serum sodium on admission and who developed IAH (serum sodium above 145 mmol/L) from day two of admission. Traumatic brain injury patients with therapeutic target sodium level above 145 mmol/L were excluded.
Results: Over 2 years study period, 864 patients were admitted to SICU. A total of 50 (5.8%) developed IAH and were included in the study. Twenty-eight ( 56%) patients were male. The median age was 47 (14-84) years. The mean (± standard deviation) Acute Physiology and Chronic Health Evaluation II score was 17 ± 6.5. The incident density (the rate of occurrence of IAH per 100 days care for SICU admission for the first episode) was 0.71. Risk factors include mechanical ventilation, male sex, age ≥50 years, postgastrointestinal surgeries, weekend and night admission. SICU mortality was 40%. The SICU and hospital median (range) length of stay was 8.3 (2-53) and 28.8 (3-95), respectively.
Conclusions: IAH is not uncommon in SICU patients and is associated with increased risk of SICU as well as hospital mortality
The advantages of inhalational sedation using an anesthetic-conserving device versus intravenous sedatives in an intensive care unit setting: A systematic review
BACKGROUND: Sedation is fundamental to the management of patients in the intensive care unit (ICU). Its indications in the ICU are vast, including the facilitating of mechanical ventilation, permitting invasive procedures, and managing anxiety and agitation. Inhaled sedation with halogenated agents, such as isoflurane or sevoflurane, is now feasible in ICU patients using dedicated devices/systems. Its use may reduce adverse events and improve ICU outcomes compared to conventional intravenous (IV) sedation in the ICU. This review examined the effectiveness of inhalational sedation using the anesthetic conserving device (ACD) compared to standard IV sedation for adult patients in ICU and highlights the technical aspects of its functioning.
METHODS: We searched the PubMed, Cochrane Central Register of Controlled Trials, The Cochrane Library, MEDLINE, Web of Science, and Sage Journals databases using the terms “anesthetic conserving device,” “Anaconda,” “sedation” and “intensive care unit” in randomized clinical studies that were performed between 2012 and 2022 and compared volatile sedation using an ACD with IV sedation in terms of time to extubation, duration of mechanical ventilation, and lengths of ICU and hospital stay.
RESULTS: Nine trials were included. Volatile sedation (sevoflurane or isoflurane) administered through an ACD shortened the awakening time compared to IV sedation (midazolam or propofol).
CONCLUSION: Compared to IV sedation, volatile sedation administered through an ACD in the ICU shortened the awakening and extubation times, ICU length of stay, and duration of mechanical ventilation. More clinical trials that assess additional clinical outcomes on a large scale are needed
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Effects of pre-operative isolation on postoperative pulmonary complications after elective surgery: an international prospective cohort study an international prospective cohort study
We aimed to determine the impact of pre-operative isolation on postoperative pulmonary complications after elective surgery during the global SARS-CoV-2 pandemic. We performed an international prospective cohort study including patients undergoing elective surgery in October 2020. Isolation was defined as the period before surgery during which patients did not leave their house or receive visitors from outside their household. The primary outcome was postoperative pulmonary complications, adjusted in multivariable models for measured confounders. Pre-defined sub-group analyses were performed for the primary outcome. A total of 96,454 patients from 114 countries were included and overall, 26,948 (27.9%) patients isolated before surgery. Postoperative pulmonary complications were recorded in 1947 (2.0%) patients of which 227 (11.7%) were associated with SARS-CoV-2 infection. Patients who isolated pre-operatively were older, had more respiratory comorbidities and were more commonly from areas of high SARS-CoV-2 incidence and high-income countries. Although the overall rates of postoperative pulmonary complications were similar in those that isolated and those that did not (2.1% vs 2.0%, respectively), isolation was associated with higher rates of postoperative pulmonary complications after adjustment (adjusted OR 1.20, 95%CI 1.05–1.36, p = 0.005). Sensitivity analyses revealed no further differences when patients were categorised by: pre-operative testing; use of COVID-19-free pathways; or community SARS-CoV-2 prevalence. The rate of postoperative pulmonary complications increased with periods of isolation longer than 3 days, with an OR (95%CI) at 4–7 days or ≥ 8 days of 1.25 (1.04–1.48), p = 0.015 and 1.31 (1.11–1.55), p = 0.001, respectively. Isolation before elective surgery might be associated with a small but clinically important increased risk of postoperative pulmonary complications. Longer periods of isolation showed no reduction in the risk of postoperative pulmonary complications. These findings have significant implications for global provision of elective surgical care. We aimed to determine the impact of pre-operative isolation on postoperative pulmonary complications after elective surgery during the global SARS-CoV-2 pandemic. We performed an international prospective cohort study including patients undergoing elective surgery in October 2020. Isolation was defined as the period before surgery during which patients did not leave their house or receive visitors from outside their household. The primary outcome was postoperative pulmonary complications, adjusted in multivariable models for measured confounders. Pre-defined sub-group analyses were performed for the primary outcome. A total of 96,454 patients from 114 countries were included and overall, 26,948 (27.9%) patients isolated before surgery. Postoperative pulmonary complications were recorded in 1947 (2.0%) patients of which 227 (11.7%) were associated with SARS-CoV-2 infection. Patients who isolated pre-operatively were older, had more respiratory comorbidities and were more commonly from areas of high SARS-CoV-2 incidence and high-income countries. Although the overall rates of postoperative pulmonary complications were similar in those that isolated and those that did not (2.1% vs 2.0%, respectively), isolation was associated with higher rates of postoperative pulmonary complications after adjustment (adjusted OR 1.20, 95%CI 1.05–1.36, p = 0.005). Sensitivity analyses revealed no further differences when patients were categorised by: pre-operative testing; use of COVID-19-free pathways; or community SARS-CoV-2 prevalence. The rate of postoperative pulmonary complications increased with periods of isolation longer than 3 days, with an OR (95%CI) at 4–7 days or ≥ 8 days of 1.25 (1.04–1.48), p = 0.015 and 1.31 (1.11–1.55), p = 0.001, respectively. Isolation before elective surgery might be associated with a small but clinically important increased risk of postoperative pulmonary complications. Longer periods of isolation showed no reduction in the risk of postoperative pulmonary complications. These findings have significant implications for global provision of elective surgical care