Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

The pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia's development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) as a cause of new-onset refractory status epilepticus (NORSE): Case report and review of literature.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare cause of NORSE. We describe the case of a young girl who presented with NORSE associated with MOGAD along with a systematic review of all cases of NORSE associated with MOGAD till date. Seizures associated with MOGAD are usually associated with good outcome but can occasionally be catastrophic and non-responsive to conventional therapies.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.

Participatory logic model for a precision child and youth mental health start-up: scoping review, case study, and lessons learned.

Background: The precision child and youth mental health (PCYMH) paradigm has great potential to transform CYMH care and research, but there are numerous concerns about feasibility, sustainablity, and equity. Implementation science and evaluation methodology, particularly participatory logic models created with stakeholders, may help catalyze PCYMH-driven system transformation. This paper aims to: (1) report results of a PCYMH logic model scoping review; (2) present a case study illustrating creation of a participatory logic model for a PCYMH start-up; and (3) share the final model plus lessons learned.

Assessing the implementation of a tertiary care comprehensive pediatric asthma education program using electronic medical records and decision support tools.

Background: Self-management education is integral for proper asthma management. However, there is an accessibility gap to self-management education following asthma hospitalizations. Most pediatric patients and their families receive suboptimal or no education.

Deubiquitinase BAP1 is crucial for surface expression of T cell receptor (TCR) complex, T cell-B cell conjugate formation, and T cell activation.

The adaptive immune response critically hinges on the functionality of T cell receptors, governed by complex molecular mechanisms, including ubiquitination. In this study, we delved into the role of in T cell immunity, focusing on T cell-B cell conjugate formation and T cell activation. Using a CRISPR-Cas9 screening approach targeting deubiquitinases genes in Jurkat T cells, we identified BAP1 as a key positive regulator of T cell-B cell conjugate formation.

Phenomenological patterns and aetiological spectrum in patients visiting a tertiary care Movement disorders service in India: An observational study.

Objective: Although previous studies have described phenomenological diagnoses, they lacked description of aetiological spectrum in patients visiting movement disorders (MD) service. Herein, we classify the MD phenomenology and describe aetiology wise distribution of each phenomenology in patients visiting a tertiary care movement disorders service.

Methods: Collected information included demographic profile (age of onset, age at presentation, gender, duration of illness before presentation), predominant MD phenomenology [such as parkinsonism, dystonia, ataxia, tremor, chorea, ballism, myoclonus, tics, stereotypy, restless legs syndrome (RLS) and others], diagnostic evaluations and detected aetiology.

A real-world evaluation of the effectiveness and Sufficiency of Current Emergency Department Preventative Strategies for Reducing Emergency Department revisits in a Canadian children's hospital: a retrospective cohort study.

Background: Despite asthma guidelines' recommended emergency department preventative strategies (EDPS), repeat asthma-related emergency department (ED) visits remain frequent.

Methods: We performed a retrospective cohort study of children aged 1-17 years presenting with asthma to the Children's Hospital of Eastern Ontario (CHEO) ED between September 1, 2014 - August 31, 2015. EDPS was defined as provision of education on trigger avoidance and medication technique plus documentation of an asthma action plan, a prescription for an inhaled controller medication or referral to a specialist.

Adaptive Mentoring Networks and Compassionate Care: A Qualitative Exploration of Mentorship for Chronic Pain, Substance Use Disorders and Mental Health.

This study undertook an exploration of how Adaptive Mentoring Networks focusing on chronic pain, substance use disorders and mental health were supporting primary care providers to engage in compassionate care. The study utilised the Cole-King & Gilbert Compassionate Care Framework to guide qualitative semi-structured interviews of participants in two Adaptive Mentoring Networks in Ontario, Canada. Fourteen physician participants were interviewed including five mentors (psychiatrists) and nine mentees (family physicians) in the Networks.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Background: Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited.

Does Celecoxib Prescription for Pain Management Affect Post-tonsillectomy Hemorrhage Requiring Surgery? A Retrospective Observational Cohort Study.

Background: Adenotonsillectomy and tonsillectomy (referred to as tonsillectomy hereafter) are common pediatric surgeries. Postoperative complications include hemorrhage requiring surgery (2 to 3% of cases) and pain. Although nonsteroidal anti-inflammatory drugs are commonly administered for postsurgical pain, controversy exists regarding bleeding risk with cyclooxygenase-1 inhibition and associated platelet dysfunction.