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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

Am J Med Genet A

February 2023

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic utility. This study examined relationships between FMR1 methylation in different tissues with FMR1 messenger ribonucleic acid (mRNA) and intellectual functioning in 87 males with FXS (1.

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Objective: As patients and family caregivers are increasingly viewed as a dyadic whole, growing studies have emerged that identify ways to improve the two parties' emotional distress. However, the specific effectiveness, quality, and optimal intervention details of these studies are unclear. Our objective is to synthesize the effectiveness of existing dyadic interventions for improving the psychological distress of cancer patient-caregiver dyads and identify potential moderators that influence intervention effectiveness.

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Study Design: Retrospective Aanalysis of a Large Cohort of Cases.

Objectives: To explore the rate and cause of revision surgery after spinal fusion in adolescent idiopathic scoliosis(AIS).

Methods: The patients diagnosed with AIS who underwent spinal fusion surgery in a single center from 2002 to 2018 were retrospectively analyzed.

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Prediction of intraoperative hypotension from the linear extrapolation of mean arterial pressure.

Eur J Anaesthesiol

July 2022

From the Hospices Civils de Lyon, Hôpital Louis Pradel, Service d'Anesthésie-Réanimation (MJ-L, EG, RS, PP, MR, J-LF), Laboratoire CarMeN, IHU OPERA, Inserm (MJ-L, J-LF), Université Claude Bernard Lyon 1, Faculté de médecine Lyon-Est, Lyon, France (MJ-L, MR, FA, J-LF), Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Service d'Anesthésie-Réanimation.

Background: Hypotension prediction index (HPI) software is a proprietary machine learning-based algorithm used to predict intraoperative hypotension (IOH). HPI has shown superiority in predicting IOH when compared to the predictive value of changes in mean arterial pressure (ΔMAP) alone. However, the predictive value of ΔMAP alone, with no reference to the absolute level of MAP, is counterintuitive and poor at predicting IOH.

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