Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems and is historically regarded as a disease of childhood. Since it is inherited in an autosomal dominant manner in 40% of patients, it carries many implications for genetic counselling of patients and screening of family members. In addition, the considerable variable expression and absence of a clear genotype–phenotype correlation, results in a diverse range of clinical manifestations, even in affected individuals within the same family. With recent therapeutic advancements in cholestasis treatment and the improved survival rates with liver transplantation (LT), many patients with ALGS survive into adulthood. Although LT is curative for liver disease secondary to ALGS, complications secondary to extrahepatic involvement remain problematic lifelong. This review is aimed at providing a comprehensive review of ALGS to adult clinicians who will take over the medical care of these patients following transition, with particular focus on certain aspects of the condition that require lifelong surveillance. We also provide a diagnostic framework for adult patients with suspected ALGS and highlight key aspects to consider when determining eligibility for LT in patients with this syndrome.
Background Traumatic Brain Injury (TBI) is a significant and growing worldwide healthcare burden. Minimising brain hypoxia is important in preventing secondary brain injury. Anaemia is common in TBI patients but there is little evidence as to which haemoglobin (Hb) threshold transfusion should be considered in TBI patients. Objective This present systematic review and meta-analysis of randomised controlled trials aims to assess the effect of high verses low red blood cell transfusion thresholds on functional outcomes and quality of life in TBI patients. Method We searched Cochrane Central Register of Controlled Trials, MEDLINE, Embase, CINAHL, and Web of Science up to June 2020. We also searched clinical trial registers, conference proceedings, and reference lists from previous systematic reviews and included studies. We included randomised studies comparing high verses low Hb threshold for red blood cell transfusion in TBI patients. We assessed the following major outcomes: all-cause mortality, transfusion related adverse events and favourable outcome (Glasgow Outcome Scale, GOS). Results We included 3 RCTs involving 311 participants. Our analysis showed no difference in all-cause mortality (3-6 months) (OR 1.17 (95% CI 0.64 to 2.13)) and no difference in GOS (OR 1.10 (95% CI 0.65 to 1.85)) between transfusing red blood cells at 7g/dL or at 9/10g/dL in moderate to severe TBI. Conclusions There is no difference between a high and a low Hb threshold transfusion policy. However, considering the limitations in current evidence there is a need for future high quality randomised controlled trials.
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