British medical bulletin
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British medical bulletin · Dec 2021
Meta AnalysisDiagnosis and epidemiology of winged scapula in breast cancer patients: A systematic review and meta-analysis.
Winged scapula (WS) is a critical complication of axillary surgery in patients treated for breast cancer, and is associated with pain, impairment of the upper extremity's function and poor performance in daily activities. ⋯ Further studies should aim for objective diagnostic tests, especially when the condition is not evident.
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British medical bulletin · Dec 2021
ReviewTreatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway.
Mosaic overgrowth syndromes (OS) are a proteiform ensemble of rare diseases displaying asymmetric overgrowth involving any tissue type, with degrees of severity ranging from isolated malformation to life-threatening conditions such as pulmonary embolism. Despite discordant clinical presentations, all those syndromes share common genetic anomalies: somatic mutations of genes involved in cell growth and proliferation. The PI3K-AKT-mTOR signaling pathway is one of the most prominent regulators of cell homeostasis, and somatic oncogenic mutations affecting this pathway are responsible for mosaic OS. This review aims to describe the clinical and molecular characteristics of the main OS involving the PI3K-AKT-mTOR pathway, along with the treatments available or under development. ⋯ OS are a dynamic, expanding field of research. Studies focusing on the identification of genetic anomalies and their pharmacological inhibition are needed.
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British medical bulletin · Dec 2021
ReviewTranslational aspects of novel findings in genetics of male infertility-status quo 2021.
Male factor infertility concerns 7-10% of men and among these 40-60% remain unexplained. ⋯ Di-/oligogenic causes, structural and common variants implicated in multifactorial inheritance may explain the 'hidden' genetic factors. It is also critical to understand how the recently identified diverse genetic factors of infertility link to general male health concerns across lifespan and how the clinical assessment could benefit from this knowledge.
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British medical bulletin · Dec 2021
Membrane scaffolds for matrix-induced autologous chondrocyte implantation in the knee: a systematic review.
Chondral defects of the knee are common and their management is challenging. ⋯ Hyaluronic acid membrane yields a lower rate of failures and revision surgeries for mACI in the management of focal articular cartilage defects of the knee compared with collagenic scaffolds at midterm follow-up. No difference was found in patient reported outcome measures (PROMs). Further comparative studies are required to validate these results in a clinical setting.
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Despite advances in technology including the development of more sophisticated methods of monitoring blood glucose and delivering insulin, many individuals with type 1 diabetes continue to experience significant challenges in optimizing glycaemic control. Alternative treatment approaches to insulin are required. Increasing efforts have focused on developing treatments aimed at targeting the underlying disease process to modulate the immune system, maximize beta cell function and enhance endogenous insulin production and action. ⋯ The development of optimal strategies for preventing and delaying progression of type 1 diabetes, and monitoring the response to immunointervention.