Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.

Background: An understanding of the genetic mechanisms underlying diseases in ancestrally diverse populations is an important step towards development of targeted treatments. Research in African and African admixed populations can enable mapping of complex traits, because of their genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. We aimed to do a comprehensive genome-wide assessment in African and African admixed individuals to better understand the genetic architecture of Parkinson's disease in these underserved populations.

Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.

Our ability to identify different variants in GBA1, the gene mutated in the lysosomal storage disorder Gaucher disease (GD), has greatly improved. We describe a multigenerational family with type 1 GD initially evaluated over three decades ago. Re-evaluating both the genotype and phenotype, we determined that one family member with genotype N370S/T369M (p.

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.

Gaucher disease (GD) is an autosomal recessive disorder resulting from glucocerebrosidase deficiency due to pathologic variants in GBA1. While clinically heterogeneous, GD encompasses three types, non-neuronopathic (GD1), acute neuronopathic (GD2), and chronic neuronopathic (GD3). Newborn screening (NBS), which has made remarkable inroads in detecting certain diseases before detrimental health consequences and fatality ensues, is now being piloted for GD in several states and countries.

Facial features of lysosomal storage disorders.

Introduction: The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be grouped using artificial intelligence to allow the recognition of diseases and syndromes with similar features. Lysosomal storage disorders are rare, and some have prominent and unique features that may be used to train the accuracy of facial recognition software algorithms.

A thematic analysis of patients' and their informal caregivers' gendered experiences in traumatic brain injury.

Purpose: Research shows that patients' perceptions of themselves and others, in addition to their understanding of the concept of gender, changes after traumatic brain injury (TBI). Little is known about gendered experiences in TBI and care delivery. This study aims to explore perceptions of gender through life experiences and interactions between adult patients with TBI and their informal caregivers.

Perceptions of Digital Technology Experiences and Development Among Family Caregivers and Technology Researchers: Qualitative Study.

Background: Caregiving is highly stressful and is associated with poor mental and physical health. Various technologies, including mobile and eHealth apps, have been developed to address caregiver needs. However, there is still a paucity of research examining the technology perceptions of informal caregivers, especially from the perspectives of sex, gender, and diversity.

Risk of COVID-19 death in cancer patients: an analysis from Guy's Cancer Centre and King's College Hospital in London.

Background: Using an updated dataset with more patients and extended follow-up, we further established cancer patient characteristics associated with COVID-19 death.

Methods: Data on all cancer patients with a positive reverse transcription-polymerase chain reaction swab for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) at Guy's Cancer Centre and King's College Hospital between 29 February and 31 July 2020 was used. Cox proportional hazards regression was performed to identify which factors were associated with COVID-19 mortality.

COVID-19 Risk Factors for Cancer Patients: A First Report with Comparator Data from COVID-19 Negative Cancer Patients.

Very few studies investigating COVID-19 in cancer patients have included cancer patients as controls. We aimed to identify factors associated with the risk of testing positive for SARS CoV2 infection in a cohort of cancer patients. We analyzed data from all cancer patients swabbed for COVID-19 between 1 March and 31 July 2020 at Guy's Cancer Centre.

Men's gendered experiences of rehabilitation and recovery following traumatic brain injury: A reflexive thematic analysis.

Research shows that gender influences men's health-related beliefs and behaviours - including those within the context of traumatic brain injury (TBI) - making it a factor that should be considered when designing and implementing interventions for this population. To incorporate an understanding of such gendered influences in future educational materials for men with TBI, as well as their caregivers and clinicians, this qualitative study was informed by social constructionism, and aimed to explore how gender is related to men's post-TBI perceptions and behaviours in rehabilitation and recovery. Semi-structured interviews were conducted with 22 men with mild and moderate-severe TBI at the acute (≤ 3 months post-TBI) and chronic (> 3 months post-TBI) phases of injury.

Factors Affecting COVID-19 Outcomes in Cancer Patients: A First Report From Guy's Cancer Center in London.

There is insufficient evidence to support clinical decision-making for cancer patients diagnosed with COVID-19 due to the lack of large studies. We used data from a single large UK Cancer Center to assess the demographic/clinical characteristics of 156 cancer patients with a confirmed COVID-19 diagnosis between 29 February and 12 May 2020. Logistic/Cox proportional hazards models were used to identify which demographic and/or clinical characteristics were associated with COVID-19 severity/death.

First report of pharmaceuticals and personal care products in two tropical rivers of southwestern India.

The occurrence of selected pharmaceuticals (trimethoprim, sulfamethoxazole, chloramphenicol, bezafibrate, ceftriaxone, and naproxen) in two west-flowing tropical rivers (Swarna and Nethravati) of southwestern India is reported for the first time. Water samples were collected during the monsoon and post-monsoon seasons from river water end members and further downstream up to their confluence with the adjacent Arabian Sea. Samples were analyzed using HPLC-MS/MS.

Women's Gendered Experiences of Traumatic Brain Injury.

Despite recognizing that women have worse outcomes after traumatic brain injury (TBI), little is known about how gender influences their experiences of this critical injury. Past research has been dominated by androcentrism and quantitative approaches, leaving the lived experience of women with TBI insufficiently examined. To gain insight into their experiences, this qualitative study interviewed 19 Canadian women with mild and moderate-to-severe TBIs.

Knowledge of sex and gender and related information needs in patients with traumatic brain injury: in-depth interview study.

Aim: This research aimed to gain an understanding of biological sex and social gender phenomena experienced by patients with traumatic brain injury in recovery, and to understand the educational needs of this group.

Methods: We conducted semi-structured interviews of 40 adult patients (22 men, 18 women) of different ages, education levels, and ethnicities, with diagnoses of mild and moderate-severe traumatic brain injury at the acute and chronic stages post-injury.

Results: Applying classic content analysis with inductive coding, three overarching themes that limited patients' knowledge and subsequent efforts to obtain information on the topic emerged: (1) the complexity of sex and gender subject matters, (2) patients' dependence on others, and (3) uncertainty about the course of recovery.

Measuring Change Over Time: A Systematic Review of Evaluative Measures of Cognitive Functioning in Traumatic Brain Injury.

The purpose of evaluative instruments is to measure the magnitude of change in a construct of interest over time. The measurement properties of these instruments, as they relate to the instrument's ability to fulfill its purpose, determine the degree of certainty with which the results yielded can be viewed. This work systematically reviews all instruments that have been used to evaluate cognitive functioning in persons with traumatic brain injury (TBI), and critically assesses their evaluative measurement properties: construct validity, test-retest reliability, and responsiveness.

A gender-transformative approach to improve outcomes and equity among persons with traumatic brain injury.

Introduction: The initiation and translation of sex-sensitive and gender-sensitive research programmes into clinically useful considerations for patients with traumatic brain injury (TBI) have been difficult. Clinical frameworks are currently not specific according to sex and gender, despite evidence that these constructs influence the incidence, course and outcome of patients with TBI. The present protocol outlines a strategy for a research programme, supported by the Canadian Institutes of Health Research (CIHR) Institute of Gender and Health, which explores sex and gender topics in the context of TBI, with the goal of building an infrastructure to facilitate the implementation of sex/gender-sensitive research findings into clinical considerations.

The course and prognostic factors of cognitive outcomes after traumatic brain injury: A systematic review and meta-analysis.

Despite indications that TBI may be a precursor of cognitive decline and subsequent development of Alzheimer's disease, little is known about the time course of this relationship and the factors involved. This systematic review summarizes the evidence pertinent to this subject matter. All English language studies of longitudinal design, and works cited within them, found in six literature databases, were considered, and their quality assessed.

The course and prognostic factors of cognitive status after central nervous system trauma: a systematic review protocol.

Introduction: Traumatic brain injury (TBI) is among the most disabling injuries, resulting in a range of cognitive impairments. Traumatic spinal cord injury (SCI) often occurs in conjunction with TBI; the two are best considered together in the context of trauma to the central nervous system (CNS). Despite strong indications of cognitive dysfunction in CNS trauma, little is known about its natural history or relationship with other factors.

Sleep and Psychiatric Disorders in Persons With Mild Traumatic Brain Injury.

Mild traumatic brain injury (mTBI) frequently challenges the integrity of sleep function by affecting multiple brain areas implicated in controlling the switch between wakefulness and sleep and those involved in circadian and homeostatic processes; the malfunction of each causes a variety of disorders. In this review, we discuss recent data on the dynamics between disorders of sleep and mental/psychiatric disorders in persons with mTBI. This analysis sets the stage for understanding how a variety of physiological, emotional and environmental influences affect sleep and mental activities after injury to the brain.

Post-Traumatic Sleep-Wake Disorders.

All living organisms that face a traumatic life event are susceptible to sleep-wake disturbances. Stress, which can result in trauma, evokes a high level of physiological arousal associated with sympathetic nervous system activation, during both sleep and wakefulness. Heredity, sex hormones, early losses, developmental factors and intra- and interpersonal conflicts, contribute to the level of baseline physiological arousal, producing either subclinical, clinical or complex clinical traits, acutely and at any time after exposure to a traumatic event.