Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.

Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the paraflocculus and flocculus, in mouse models and humans with 22q11.

Cross-cultural adaptation and validation of a French version of the perceived personal control questionnaire as an outcome measure instrument for genetic counseling.

The perceived personal control (PPC) questionnaire serves as an instrument to assess the concept of PPC, which refers to a person's perception of their ability to achieve positive outcomes while avoiding the negative effects of a given situation. Developed and used as a patient-reported outcome measure (PROM) in genetic counseling, the PPC questionnaire has been translated and validated in several languages, but not in French. The aim of this study was to cross-culturally adapt and validate a French version of the PPC questionnaire to evaluate genetic counseling services for hereditary breast and ovarian cancer (HBOC).

Dual Coaching of Medical Clerkship Students' History Taking Skills by Volunteer Inpatients at the Bedside and Faculty Physicians on Zoom During the COVID-19 Pandemic.

Purpose: Coaching is a well-described means of providing real-time, actionable feedback to learners. We aimed to determine whether dual coaching from faculty physicians and real inpatients led to an improvement in history-taking skills of clerkship medical students.

Patients And Methods: Expert faculty physicians (on Zoom) directly observed 13 clerkship medical students as they obtained a history from 26 real, hospitalized inpatients (in person), after which students received immediate feedback from both the physician and the patient.

Dynamic three-dimensional coculture model: The future of tissue engineering applied to the peripheral nervous system.

Traumatic injuries to the peripheral nervous system (PNI) can lead to severe consequences such as paralysis. Unfortunately, current treatments rarely allow for satisfactory functional recovery. The high healthcare costs associated with PNS injuries, worker disability, and low patient satisfaction press for alternative solutions that surpass current standards.

Are we on track to increase organ utilization? An analysis of machine perfusion preservation for liver transplantation in the United States.

Background: Efforts to improve the quality of marginal grafts for transplantation are essential. Machine perfusion preservation appears as a promising solution.

Methods: The United Network for Organ Sharing (UNOS) database was queried for deceased liver donor records between 2016 and 2022.

Development of a Competency Assessment Framework for Pharmacy Residents Participating in High-Fidelity Simulation and Creation of the SIMPHARM Assessment Tool.

Background: Simulations are used to improve professional practice across multiple health professions; however, the application of simulations in pharmacy curricula has been limited by a lack of evidence.

Objectives: To delineate the competencies of pharmacy residents needed to assess their progress while participating in a high-fidelity simulation training program and to create a reliable assessment tool based on these competencies.

Methods: A literature review was conducted, followed by application of a modified Delphi method.

The interaction between RIPK1 and FADD controls perinatal lethality and inflammation.

Perturbation of the apoptosis and necroptosis pathways critically influences embryogenesis. Receptor-associated protein kinase-1 (RIPK1) interacts with Fas-associated via death domain (FADD)-caspase-8-cellular Flice-like inhibitory protein long (cFLIP) to regulate both extrinsic apoptosis and necroptosis. Here, we describe Ripk1-mutant animals (Ripk1 [RE]) in which the interaction between FADD and RIPK1 is disrupted, leading to embryonic lethality.

Liver Transplant Costs and Activity After United Network for Organ Sharing Allocation Policy Changes.

Importance: A new liver allocation policy was implemented by United Network for Organ Sharing (UNOS) in February 2020 with the stated intent of improving access to liver transplant (LT). There are growing concerns nationally regarding the implications this new system may have on LT costs, as well as access to a chance for LT, which have not been captured at a multicenter level.

Objective: To characterize LT volume and cost changes across the US and within specific center groups and demographics after the policy implementation.

BERNN: Enhancing classification of Liquid Chromatography Mass Spectrometry data with batch effect removal neural networks.

Liquid Chromatography Mass Spectrometry (LC-MS) is a powerful method for profiling complex biological samples. However, batch effects typically arise from differences in sample processing protocols, experimental conditions, and data acquisition techniques, significantly impacting the interpretability of results. Correcting batch effects is crucial for the reproducibility of omics research, but current methods are not optimal for the removal of batch effects without compressing the genuine biological variation under study.

Loss-of-function variants identified in autosomal recessive cherubism families.

Cherubism (OMIM 118400) is a rare craniofacial disorder in children characterized by destructive jawbone expansion due to the growth of inflammatory fibrous lesions. Our previous studies have shown that gain-of-function mutations in SH3 domain-binding protein 2 (SH3BP2) are responsible for cherubism and that a knock-in mouse model for cherubism recapitulates the features of cherubism, such as increased osteoclast formation and jawbone destruction. To date, is the only gene identified to be responsible for cherubism.

Multi-scale analysis of heat stress acclimation in Arabidopsis seedlings highlights the primordial contribution of energy-transducing organelles.

Much progress has been made in understanding the molecular mechanisms of plant adaptation to heat stress. However, the great diversity of models and stress conditions, and the fact that analyses are often limited to a small number of approaches, complicate the picture. We took advantage of a liquid culture system in which Arabidopsis seedlings are arrested in their development, thus avoiding interference with development and drought stress responses, to investigate through an integrative approach seedlings' global response to heat stress and acclimation.

Genetic ablation of induces a lethal disruption of the MICOS complex.

The mitochondrial contact site and cristae organizing system (MICOS) is important for crista junction formation and for maintaining inner mitochondrial membrane architecture. A key component of the MICOS complex is MIC60, which has been well studied in yeast and cell culture models. However, only one recent study has demonstrated the embryonic lethality of losing (the gene encoding MIC60) expression.

Unraveling the dataset transcriptomic response of stem to mechanical stimulation: assembly and functional annotation.

A crucial attribute of potted ornamental plants is compactness characterized by well branched plants with rather short stems bearing numerous flowers. To gain plant compactness, producers use plant growth regulators (PGRs), in particular growth retardants during culture. However, due to their negative environmental impacts, growth retardants are progressively withdrawn from the market.

Simultaneous split liver/kidney transplantation: A national and single center experience report.

Background: End-stage liver disease (ESLD) and end-stage renal disease (ESRD) are prevalent diseases for which the definitive treatment is transplantation. With limited organ supply, strategies to maximize organ availability has led to increasing rates of split liver transplantations for ESLD patients. Therefore, simultaneous split liver and kidney transplantations (SSLK) for patients with ESLD and ESRD could represent a treatment option for comorbid patients.

Medial meniscal repair in stable knees: Survival rate and risk factors for failure at a minimum of 5 years.

Introduction: The menisci play a major role in the protection of the knee against osteoarthritis. A medial meniscus (MM) tear occurring in a stable knee is more at risk of repair failure than a suture concomitant with reconstruction of the anterior cruciate ligament.

Hypothesis: The survival of MM sutures in stable knees depends on the type of lesion.

The frequency of medial meniscal repairs in stable knees during one year of arthroscopic activity (2021-2022) - comparison with a retrospective study (prior to 2017).

Introduction: There has been a significant increase in the use of conservative treatment for meniscal lesions due to raised awareness around the need for meniscal preservation. However, sutures of the medial meniscus (MM) in stable knees remain less frequently used. The objective of this study was to, firstly, identify the MM suture rate over one year of activity; secondly, to identify and compare the distribution of MM sutures in stable, and stabilized, knees on this prospective series; and thirdly, to compare the evolution of practices with a retrospective series of more than 5 years follow-up.

Survival after LDLT in recipients ≥70 years old in the United States. An OPTN/UNOS liver transplant registry analysis.

Background: Living donor liver transplantation (LDLT) in the elderly population is currently not well studied. There are single-center studies indicating that patient age should not be a barrier to LDLT, with similar outcomes compared to younger recipients.

Methods: Using UNOS/STAR data from 2010 to 2022 we retrospectively analyzed patients ≥70 years old receiving a living donor graft (LDLT ≥70y group) versus a deceased donor graft (DDLT ≥70y group).

Enhancing Classification of liquid chromatography mass spectrometry data with Batch Effect Removal Neural Networks (BERNN).

Liquid Chromatography Mass Spectrometry (LC-MS) is a powerful method for profiling complex biological samples. However, batch effects typically arise from differences in sample processing protocols, experimental conditions and data acquisition techniques, significantlyimpacting the interpretability of results. Correcting batch effects is crucial for the reproducibility of proteomics research, but current methods are not optimal for removal of batch effects without compressing the genuine biological variation under study.

Thermoelectric Freeze-Casting of Biopolymer Blends: Fabrication and Characterization of Large-Size Scaffolds for Nerve Tissue Engineering Applications.

Peripheral nerve injuries (PNIs) are detrimental to the quality of life of affected individuals. Patients are often left with life-long ailments that affect them physically and psychologically. Autologous nerve transplant is still the gold standard treatment for PNIs despite limited donor site and partial recovery of nerve functions.

Rehabilitation protocol after suturing the medial meniscus of a stable knee, a retrospective series of the Francophone Arthroscopy Society.

Introduction: Surgical meniscal lesions are common and 80% of cases involve the medial meniscus of a stable knee. There is a lack of consensus regarding postoperative rehabilitation protocols and a wide variation between restrictive and accelerated rehabilitation protocols exists. The main objective of this study was to report the functional results and the failure rate of the various rehabilitation protocols of the retrospective series of the French Society of Arthroscopy (SFA) after suturing the medial meniscus of a stable knee, considering whether the tear is stable or unstable.