Articles: function.
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Cochrane Db Syst Rev · Nov 2023
ReviewCorrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).
Cystic fibrosis (CF) is a common life-shortening genetic condition caused by a variant in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. A class II CFTR variant F508del is the commonest CF-causing variant (found in up to 90% of people with CF (pwCF)). The F508del variant lacks meaningful CFTR function - faulty protein is degraded before reaching the cell membrane, where it needs to be to effect transepithelial salt transport. Corrective therapy could benefit many pwCF. This review evaluates single correctors (monotherapy) and any combination of correctors (most commonly lumacaftor, tezacaftor, elexacaftor, VX-659, VX-440 or VX-152) and a potentiator (e.g. ivacaftor) (dual and triple therapies). ⋯ There is insufficient evidence of clinically important effects from corrector monotherapy in pwCF with F508del/F508del. Additional data in this review reduced the evidence for efficacy of dual therapy; these agents can no longer be considered as standard therapy. Their use may be appropriate in exceptional circumstances (e.g. if triple therapy is not tolerated or due to age). Both dual therapies (lumacaftor-ivacaftor, tezacaftor-ivacaftor) result in similar small improvements in QoL and respiratory function with lower pulmonary exacerbation rates. While the effect sizes for QoL and FEV1 still favour treatment, they have reduced compared to our previous findings. Lumacaftor-ivacaftor was associated with an increase in early transient shortness of breath and longer-term increases in blood pressure (not observed for tezacaftor-ivacaftor). Tezacaftor-ivacaftor has a better safety profile, although data are lacking in children under 12 years. In this population, lumacaftor-ivacaftor had an important impact on respiratory function with no apparent immediate safety concerns, but this should be balanced against the blood pressure increase and shortness of breath seen in longer-term adult data when considering lumacaftor-ivacaftor. Data from triple therapy trials demonstrate improvements in several key outcomes, including FEV1 and QoL. There is probably little or no difference in adverse events for triple therapy (elexacaftor-tezacaftor-ivacaftor/deutivacaftor; VX-659-tezacaftor-ivacaftor/deutivacaftor; VX-440-tezacaftor-ivacaftor; VX-152-tezacaftor-ivacaftor) in pwCF with one or two F508del variants aged 12 years or older (moderate-certainty evidence). Further RCTs are required in children under 12 years and those with more severe lung disease.
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Cochrane Db Syst Rev · Nov 2023
ReviewCalcium channel blockers for preventing cardiomyopathy due to iron overload in people with transfusion-dependent beta thalassaemia.
Beta-thalassaemia is an inherited blood disorder that reduces the production of haemoglobin. The most severe form requires recurrent blood transfusions, which can lead to iron overload. Cardiovascular dysfunction caused by iron overload is the leading cause of morbidity and mortality in people with transfusion-dependent beta-thalassaemia. Iron chelation therapy has reduced the severity of systemic iron overload, but removal of iron from the myocardium requires a very proactive preventive strategy. There is evidence that calcium channel blockers may reduce myocardial iron deposition. This is an update of a Cochrane Review first published in 2018. ⋯ The available evidence suggests that calcium channel blockers may reduce MIC and may increase liver T2* values in people with transfusion-dependent beta thalassaemia. Longer-term multicentre RCTs are needed to assess the efficacy and safety of calcium channel blockers for myocardial iron overload, especially in younger children. Future trials should also investigate the role of baseline MIC in the response to calcium channel blockers, and include a cost-effectiveness analysis.
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A meta-analysis of randomized controlled trials. ⋯ In summary, we considered that IS had similar effects with DS in hospital stay, blood loss, spinous process fracture, disc height decrease, VAS score, Oswestry Disability Index score, and Zurich Claudication Questionnaire Symptom severity, and was better in some indices such as operation time, dural violation, Zurich Claudication Questionnaire Physical function, and foraminal height decrease than DS. However, due to the higher rate of reoperation in the IS group, we considered that both IS and DS were acceptable strategies for treating LSS. As a novel technique, further well-designed studies with longer-term follow-up are needed to evaluate the effectiveness and safety of IS.
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Review Case Reports
Lymphoma of the central nervous system originating from the septum pellucidum region: Two case reports with literature review.
Non-Hodgkin lymphoma affecting the brain, eyes, and cerebrospinal fluid without systemic spread is known as primary central nervous system lymphoma (PCNSL). While intracerebroventricular PCNSL is commonly found in the lateral ventricles and the third and fourth ventricles, the occurrence of PCNSL originating from the septum pellucidum is extremely rare. ⋯ In cases of PCNSL in the septum pellucidum, it is crucial to consider it as a potential differential diagnosis for intraventricular tumors. Surgical interventions should focus on maximizing tumor resection while ensuring the protection of critical structures like the fornix and peripheral neural components. The role of surgery compared to biopsy, as well as the long-term complications, necessitates extended follow-up. Additionally, an individualized treatment approach, considering factors such as age, Karnofsky performance score, and organ function assessment, can lead to positive outcomes.
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Review Case Reports
Confusion in the monitoring of coagulation function in pregnant and neonate patients with severe disease: A case reports and brief literature review.
Different populations have their own unique physiological and pathological characteristics. However, in specialized maternal and child hospitals, there is currently a lack of standardized methods for assessing coagulation dysfunction, both domestically and internationally. ⋯ For pregnant and neonatal critical illnesses, it is necessary to develop personalized coagulation monitoring programs that provide realistic and reasonable treatment recommendations. Such programs should consider the unique physiological and pathological characteristics of different populations to ensure effective management of critically ill patients.