374 results match your criteria: "London Health Science Centre[Affiliation]"

Article Synopsis
  • Sequence-based genetic testing finds causative variants in about 50% of cases of developmental and epileptic encephalopathies (DEEs), but DNA methylation changes in these cases have not been thoroughly explored.
  • This study analyzed genome-wide DNA methylation in blood samples from 582 individuals with unresolved DEEs, identifying rare methylation patterns and potential genetic causes in 12 of these cases.
  • The research highlights the effectiveness of DNA methylation analysis in diagnosing DEEs, showing a 2% diagnostic yield, and provides insights into the CHD2 gene's pathophysiology using advanced sequencing methods.
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Background: Epidural blood patch (EBP) is frequently used for the treatment of spontaneous intracranial hypotension (SIH) and anesthesiologists are often involved in performing such procedures. However, the optimal technique and approach of EBP remains uncertain.

Methods: This case series included adult patients with SIH who underwent EBPs at London Health Science Centre, Ontario, Canada between 2010 and 2022.

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Introduction: Extensive research has explored the impact of surgeons' characteristics on patient outcomes; however, the influence of anesthesiologists remains understudied. We performed a population-based retrospective cohort study to investigate the impact of anesthesiologists' characteristics on in-hospital morbidity after spine surgery.

Methods: Adult patients who underwent spine surgery at the London Health Science Centre, Ontario, Canada between January 1, 2010 and June 30, 2023 were included in this study.

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Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS).

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Background And Aims: EMR and endoscopic submucosal dissection (ESD) are both accepted resection strategies for Barrett's esophagus-related neoplasia and esophageal adenocarcinoma (EAC). However, a lack of consensus exists regarding which technique offers superior outcomes. This study aims to systematically review the evidence comparing EMR versus ESD in treating Barrett's neoplasia and EAC.

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Study Design: In-vitro cadaveric biomechanical study.

Objectives: Long posterior spinal fusion is a standard treatment for adult spinal deformity. However, these rigid constructs are known to alter motion and stress to the adjacent non-instrumented vertebrae, increasing the risk of proximal junctional kyphosis (PJK).

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Background: Routine patellar resurfacing during primary total knee arthroplasty (TKA) remains controversial. To our knowledge, there are no studies reporting the long-term performance of a cemented biconvex all-polyethylene inlay component implanted at the time of primary TKA. The purpose of this study was to examine the 15-year survivorship and long-term clinical outcomes of this biconvex inlay patella used at our institution.

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Purpose: In oropharyngeal squamous cell carcinoma (OPSCC), systemic loss of skeletal muscle mass (SMM), or sarcopenia, is a strong prognostic predictor of survival outcomes. However, the relationship between sarcopenia and nutrition-related outcomes is not well understood. This investigation evaluated the prognostic significance of sarcopenia for feeding tube (FT) placement in a cohort of OPSCC patients.

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Preoperative expectations of patients with degenerative cervical myelopathy: an observational study from the Canadian Spine Outcomes and Research Network.

Spine J

September 2024

Combined Neurosurgical and Orthopedic Spine Program, Department of Orthopedics Surgery, University of British Columbia, 818 West 10(th) avenue, Vancouver, British Columbia V5Z 1M9, Canada. Electronic address:

Background: Despite an abundance of literature on degenerative cervical myelopathy (DCM), little is known about preoperative expectations of these patients.

Purpose: The primary objective was to describe patient preoperative expectations. Secondary objectives included identifying patient characteristics associated with high preoperative expectations and to determine if expectations varied depending on myelopathy severity.

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Patients with triple-negative breast cancer (TNBC) have an increased propensity to develop lung metastasis. Our previous studies demonstrated that stem-like ALDHCD44 breast cancer cells interact with lung-derived soluble factors, resulting in enhanced migration and lung metastasis particularly in TNBC models. We have also observed that the presence of a primary TNBC tumor can 'prime' the lung microenvironment in preparation for metastasis.

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG Adv

July 2024

Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address:

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific to PTHS for diagnostic purposes and variant reclassification and functional insights into the molecular pathophysiology of this disorder. A cohort of 67 individuals with genetically confirmed PTHS and three individuals with intellectual disability and a variant of uncertain significance (VUS) in TCF4 were studied.

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Clinical characteristics and management of pediatric egg-induced anaphylaxis: A cross-sectional study.

Ann Allergy Asthma Immunol

July 2024

Division of Allergy and Clinical Immunology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

Background: Egg is the third most common food allergy in children; however, data on pediatric egg-induced anaphylaxis are sparse.

Objective: To describe the clinical characteristics, management, and outcomes of pediatric egg-induced anaphylaxis.

Methods: Children presenting with anaphylaxis were recruited from 13 emergency departments as part of the Cross-Canada Anaphylaxis Registry, from which data on anaphylaxis triggered by egg were extracted.

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Background And Objectives: There is a lack of data examining the effects of perioperative adverse events (AEs) on long-term outcomes for patients undergoing surgery for degenerative cervical myelopathy. We aimed to investigate associations between the occurrence of perioperative AEs and coprimary outcomes: (1) modified Japanese Orthopaedic Association (mJOA) score and (2) Neck Disability Index (NDI) score.

Methods: We analyzed data from 800 patients prospectively enrolled in the Canadian Spine Outcomes and Research Network multicenter observational study.

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Objective: Pulmonary artery sling is a rare congenital anomaly accounting for 2% of all patients with vascular anomalies that cause airway obstruction. In the normal heart, the left (LPA) and right (RPA) pulmonary arteries arise in the intrapericardial space. However, in the pulmonary artery sling, the LPA trunk arises in the extrapericardial space from the posterior aspect of the mid RPA and courses posterior to the trachea causing tracheal compression and, at times, bronchial compression.

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Enhancing care for hip fracture patients through a Quality-Based Procedures funding model.

Can J Anaesth

June 2024

Department of Anesthesia & Perioperative Medicine, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada.

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Purpose: Bleeding is a major complication of patients requiring extracorporeal membrane oxygenation (ECMO). Several risk factors have been identified; however, there remains a paucity of evidence for optimal management of anticoagulation and bleeding in ECMO patients.

Methods: A total of 255 patients required ECMO from January 1996 to December 2021 at a single institution.

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Article Synopsis
  • There's a meeting called the Canadian Consensus Forum (CCF3) where doctors talked about how to manage prostate cancer (PCa) better.
  • They discussed important topics like treatment options and how to test for the disease using new technology.
  • The doctors agreed on more than half of the questions discussed, helping to guide future treatment and research to improve care for patients with prostate cancer.
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Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Eur J Hum Genet

June 2024

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42122, Reggio Emilia, Italy.

Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is characterized by intellectual disability, epilepsy, typical facial phenotype and other anomalies, such as short stature, Hirschsprung disease, brain and heart defects. Despite some recognizable features, MOWS rarity and phenotypic variability may complicate its diagnosis, particularly in the neonatal period.

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Background And Objectives: The advantages and disadvantages of anterior vs posterior surgical approaches for patients with progressive degenerative cervical myelopathy (DCM) remain uncertain. Our primary objective was to evaluate patient-reported disability at 1 year after surgery. Our secondary objectives were to evaluate differences in patient profiles selected for each approach in routine clinical practice and to compare neurological function, neck and arm pain, health-related quality of life, adverse events, and rates of reoperations.

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Article Synopsis
  • The study compares the complication rates and functional outcomes of hamstring tendon (HT) and quadriceps tendon (QT) autografts used in pediatric ACL reconstruction from various research articles.
  • Results indicate that QT autografts have a significantly lower graft rupture rate (3.5%) compared to HT autografts (12.4%) and better functional outcomes, as reflected in the Lysholm score.
  • Overall, both types of autografts showed similar rates of contralateral ACL injuries, but the QT group demonstrated superior performance in terms of graft stability and functional recovery.
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Background And Objective: The prescriptive literature on vesicoureteral reflux (VUR) is still limited and thus the level of evidence is generally low. The aim of these guidelines is to provide a practical approach to the treatment of VUR that is based on risk analysis and selective indications for both diagnostic tests and interventions. We provide a 2023 update on the chapter on VUR in children from the European Association of Urology (EAU) and European Society for Paediatric Urology (ESPU) guidelines.

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Article Synopsis
  • The study examines whether antibiotic prophylaxis (AP) is beneficial during robot-assisted laparoscopic radical prostatectomy (RALP) for prostate cancer, highlighting concerns over antibiotic resistance and side effects.
  • A systematic literature review reviewed 436 publications, ultimately finding 8 relevant studies involving 6,378 RALP procedures, yet no substantial evidence showed effective differences in infection rates based on varying AP protocols.
  • Overall, infection rates post-surgery ranged from 0.6% to 6.6%, but the lack of scientific proof for AP's efficacy suggests a need for more uniform research to provide better guidance on its use in RALP.
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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

Genet Med

March 2024

Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

Purpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures, hypogonadism, and mild dysmorphic features. We investigated the phenotype of 18 participants with HAFOUS and performed DNA methylation (DNAm) analysis, aiming to generate a diagnostic biomarker.

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Milk-induced anaphylaxis among children presenting to Canadian emergency departments.

Ann Allergy Asthma Immunol

April 2024

Division of Allergy and Clinical Immunology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

Article Synopsis
  • Cow's milk is a prevalent allergen in children, causing about 10% of anaphylactic reactions, and can lead to severe health risks.
  • Data from 2011 to 2023 showed that prehospital epinephrine use can lower the need for multiple doses in the emergency department, particularly among younger children.
  • The study highlights that children under 5 often have milder reactions compared to older kids, with symptoms like wheezing and vomiting being more common in milk-induced cases than with other food allergies.
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