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J Med Genet 2022 Jun 28. Epub 2022 Jun 28.

Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK

Background: The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human Phenotyping Ontology (HPO) terms entered by recruiting clinicians to guide focused analysis.

Methods: We developed a reverse phenotyping strategy to identify 100K participants with pathogenic variants in nine prioritised disease genes (), representative of the full phenotypic spectrum of multisystemic primary ciliopathies. Read More

Eur J Vasc Endovasc Surg 2022 Jun 25. Epub 2022 Jun 25.

Endovascular and Cardiovascular Surgery, St. Bartholomew's Hospital, London, UK; Division of Surgery and Interventional Science, University College London. Electronic address:

Objective: During fenestrated endovascular repair (FEVAR), mesenteric vessels may be incorporated with a scallop or fenestration. The benefits/harms of techniques to incorporate the coeliac axis (CA) have not been assessed for their impact on procedural complexity versus perioperative and longer-term outcomes; this assessment may instruct a balanced operative strategy for the CA and complex FEVAR, minimizing adverse intra/perioperative events, and maximizing durability.

Design: Retrospective Cohort MATERIALS AND METHODS: Patients undergoing fenestrated or scalloped CA incorporation during FEVAR for a juxtarenal/pararenal/suprarenal aortic aneurysm (January 2015-December 2019) were reviewed (n=159) for demographics, intra-procedural/perioperative outcomes, and reinterventions to 5 years. Read More

Radiother Oncol 2022 Jun 25. Epub 2022 Jun 25.

Department of Radiation Oncology, Shanghai Chest Hospital, Shanghai Jiao Tong University, No.241 Huai-Hai Road, Shanghai 200030, China; Department of Radiation Oncology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, No.270 Dong-An Road, Shanghai 200433, China. Electronic address:

Introduction: Postoperative radiotherapy (PORT) plays a highly controversial role in pathological N2 (pN2) non-small cell lung cancer (NSCLC) disease. Recent studies reveal that not all patients can benefit from PORT. Further research is needed to identify predictors of PORT. Read More

Pharmacol Ther 2022 Jun 25:108236. Epub 2022 Jun 25.

The Zucker Hillside Hospital, Department of Psychiatry, Northwell Health, Glen Oaks, NY, USA; Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Department of Psychiatry and Molecular Medicine, Hempstead, NY, USA; Charité Universitätsmedizin Berlin, Department of Child and Adolescent Psychiatry, Berlin, Germany.

Almost fifty years after its first introduction into clinical care, clozapine remains the only evidence-based pharmacological option for treatment-resistant schizophrenia (TRS), which affects approximately 30% of patients with schizophrenia. Despite the long-time experience with clozapine, the specific mechanism of action (MOA) responsible for its superior efficacy among antipsychotics is still elusive, both at the receptor and intracellular signaling level. This systematic review is aimed at critically assessing the role and specific relevance of clozapine's multimodal actions, dissecting those mechanisms that under a translational perspective could shed light on molecular targets worth to be considered for further innovative antipsychotic development. Read More