BMJ Support Palliat Care
December 2023
A 75-year-old man presented to our Interventional Cancer Pain service for consideration of a percutaneous cervical cordotomy (PCC) to control severe chest wall pain secondary to malignant mesothelioma. His medical history included a neuroinflammatory disorder, neuromyelitis optica, for which he had previously had a prolonged hospital admission, with ongoing neurological deficit. Little information is available regarding the safety of PCC in a patient with this condition, specifically the risk of neurological relapse, and we were initially wary about going ahead.
View Article and Find Full Text PDFObjective: The aim of this study was to test brain tumor interactions with brain networks, thereby identifying protective features and risk factors for memory recovery after resection.
Methods: Seventeen patients with diffuse nonenhancing glioma (ages 22-56 years) underwent longitudinal MRI before and after surgery, and during a 12-month recovery period (47 MRI scans in total after exclusion). After each scanning session, a battery of memory tests was performed using a tablet-based screening tool, including free verbal memory, overall verbal memory, episodic memory, orientation, forward digit span, and backward digit span.
Importance: Schizophrenia is a clinically heterogeneous disorder. It is currently unclear how variability in symptom dimensions and cognitive ability is associated with genetic liability for schizophrenia.
Objective: To determine whether phenotypic dimensions within schizophrenia are associated with genetic liability to schizophrenia, other neuropsychiatric disorders, and intelligence.
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs.
View Article and Find Full Text PDFObjectives: We drew on fundamental cause theory and the weathering hypothesis to examine how discrimination influences aging for midlife and older adults in Canada.
Methods: Using nationally representative data, we assessed the associations between discrimination and pain and functional limitations among adults 45 years of age and older. Discrimination was measured using a modified version of the Everyday Discrimination Scale.
Background: Welfare societies like Sweden face challenges in balancing the budget while meeting the demand for good quality healthcare. The aim of this study was to analyse whether care quality, operationalized as survival of dental fillings, is predicted by workplace social capital and if this effect is direct or indirect (through stress and/or job satisfaction among staff at the clinic), controlling for patient demographics.
Methods: The prospective design includes A) work environment data from surveys of 75 general public dental clinics (aggregated data based on 872 individual ratings), and B) register-based survival of 9381dental fillings performed during a 3-month period around the time of the survey, and C) patient demographics (age, gender, income level and birth place).
is a promiscuous bacterium that infects a variety of species but has not been reported in free-ranging polar bears . Sera from 385 polar bears from the western Hudson Bay region, 1986 to 2017, were tested for reactivity to with enzyme-linked immunosorbent assays using anti-canine IgG and protein G as secondary reagents. Sera from bears had variable reactivity to antigens, and there was no difference among bears that had a history of coming near the town of Churchill, Manitoba, and bears that did not.
View Article and Find Full Text PDFIntroduction: Prevention of mother-to-child transmission (PMTCT) is a key strategy for ending the human immunodeficiency virus (HIV) pandemic. Most studies have focused on the mothers' side of the PMTCT cascade or the rate of vertical HIV transmission. Information on child-focused cascade is limited.
View Article and Find Full Text PDFRapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortality that were not diagnosed during life. Here, we present a neonate who developed seizures and encephalopathy on the third day of life that was refractory to antiepileptic medications.
View Article and Find Full Text PDFCopy Number Variation (CNV) at the 1q21.1 locus is associated with a range of neurodevelopmental and psychiatric disorders in humans, including abnormalities in head size and motor deficits. Yet, the functional consequences of these CNVs (both deletion and duplication) on neuronal development remain unknown.
View Article and Find Full Text PDFThe cultural value of (respect) is central to Latine parenting. Yet, how respeto manifests in the interactions of Latine parents and their young children remains unexamined. Low-income Mexican immigrant Spanish-speaking mothers and their 2.
View Article and Find Full Text PDFBackground: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.
Methods: WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for assessing sequence variants. Pathogenic or likely pathogenic missense variants were interpreted using in silico prediction tools, family segregation analysis, previous publications of disease association and relevant biological assays.
This longitudinal study documents the key role of early joint engagement in the language and early literacy development of Mexican-American children from low-income households. This rapidly growing population often faces challenges as sequential Spanish-English language learners. Videos of 121 mothers and their 2.
View Article and Find Full Text PDFMetformin is the first-line treatment for many people with type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM) to maintain glycaemic control. Recent evidence suggests metformin can cross the placenta during pregnancy, thereby exposing the fetus to high concentrations of metformin and potentially restricting placental and fetal growth. Offspring exposed to metformin during gestation are at increased risk of being born small for gestational age (SGA) and show signs of 'catch up' growth and obesity during childhood which increases their risk of future cardiometabolic diseases.
View Article and Find Full Text PDFGenetic risk factors can significantly increase chances of developing psychiatric disorders, but the underlying biological processes through which this risk is effected remain largely unknown. Here we show that haploinsufficiency of Cyfip1, a candidate risk gene present in the pathogenic 15q11.2(BP1-BP2) deletion may impact on psychopathology via abnormalities in cell survival and migration of newborn neurons during postnatal hippocampal neurogenesis.
View Article and Find Full Text PDFAdvances in genomic technologies and an increased understanding of the molecular pathogenesis of cancer have resulted in development of new effective, mutation-targeted therapies. In turn, these informed the development of Master Trial designs to test these therapies. The Beat Acute Myeloid Leukemia (BAML) Master Trial (Sponsor: The Leukemia & Lymphoma Society) tests several targeted therapies in patients aged ≥ 60 years with AML based on genomic profiling obtained within 7 days of study enrollment.
View Article and Find Full Text PDFUrsini et al reported recently that the liability of schizophrenia explained by a polygenic risk score (PRS) derived from the variants most associated with schizophrenia was increased 5-fold in individuals who experienced complications during pregnancy or birth. Follow-up gene expression analysis showed that the genes mapping to the most associated genetic variants are highly expressed in placental tissues. If confirmed, these findings will have major implications in our understanding of the joint effect of genes and environment in the pathogenesis of schizophrenia.
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