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Increasingly, consumers have been able to seek DNA testing online to explore their personal genetic information. This increased access to a range of genomic tests has raised concerns among health professionals tasked with providing guidance and support to patients requiring genetic/genomic testing. Individuals will seek genomic testing for a range of purposes; equally, the medical marketplace offers a range of different test types. The Human Genetics Society of Australasia (HGSA) published their first statement on Direct to Consumer Genetic Testing (2012 PS02). This is a revised statement, which considers developments in the field of online DNA testing, including rapid technological changes, diversity of applications and decreasing costs of testing. It draws from the first empirical nationwide study (Genioz – Genomics: National Insights of Australians) and insights from consumers with experience of this technology. The rapid adoption of these tests and the broad range of potential consequences have informed perspectives within this statement. It is the position of the HGSA that both individuals/consumers and health care professionals/providers should be supported to make informed choices about online DNA testing. This means adequate and ongoing education and resources should be available for individuals/consumers and health care professionals/providers before, during and after testing. Health care professionals/providers should be appropriately trained, have relevant experience and should be able to demonstrate (or provide evidence of) a current certification in their field of practice. This statement was ratified at the 2018 HGSA Council Meeting and was recently reviewed in 2019 for consistency with other HGSA position statements.
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare progressive maternally inherited mitochondrial disease that clinically harbours various neurological and systemic manifestations.
To describe barriers and facilitators to the adoption of recommended infection prevention and control (IPC) practices among healthcare workers (HCWs).
A qualitative research design was used. Individual semistructured interviews with HCWs and observations of clinical practices were conducted from February to May 2018 in 8 care units of 2 large tertiary-care hospitals in Montreal (Québec, Canada).
We interviewed 13 managers, 4 nurses, 2 physicians, 3 housekeepers, and 2 medical laboratory technologists. We conducted 7 observations by following IPC nurses (n = 3), nurses (n = 2), or patient attendants (n = 2) in their work routines. Barriers to IPC adoption were related to the context of care, workplace environment issues, and communication issues. The main facilitator of the IPC adoption by HCWs was the “development of an IPC culture or safety culture.” The “IPC culture” relied upon leadership support by managers committed to IPC, shared belief in the importance of IPC measures to limit healthcare-associated infections (HAIs), collaboration and good communication among staff, as well as proactivity and ownership of IPC measures (ie, development of local solutions to reduce HAIs and “working together” toward common goals).
Adoption of recommended IPC measures by HCWs is strongly influenced by the “IPC culture.” The IPC culture was not uniform within hospital and differences in IPC culture were identified between care units.
Several fall prevention programs have been implemented to reduce falls among seniors. In some rural areas or in French-speaking minority communities, the availability of such programs is limited. The objectives of this paper are to: (a) describe the Fall Prevention Program Marche vers le futur, offered in French, by videoconference; and (b) present the results of the evaluation of the program objectives. Results demonstrate that participants have improved their physical abilities, gained knowledge, adopted new behaviors and lifestyle habits. In short, Marche vers le futur reduces fall risk factors in a manner equal or superior to other programs. Marche vers le futur has made possible the provision of services in French in communities where availability of French-language resources is very limited, therefore fostering equity in access to health services.
Prevalence rates of sleep difficulties in advanced cancer patients have varied widely across studies (12 to 96%), and none of these employed a diagnostic interview to distinguish different types of sleep–wake disorders. Moreover, very limited information is available on subjective and objective sleep parameters in this population. Our study was conducted in palliative cancer patients and aimed to assess rates of sleep–wake disorders and subsyndromal symptoms and to document subjective and objective sleep–wake parameters across various types of sleep–wake difficulties.
The sample was composed of 51 community-dwelling cancer patients receiving palliative care and having an Eastern Cooperative Oncology Group score of 2 or 3. Relevant sections of the Duke Interview for Sleep Disorders were administered over the phone. An actigraphic recording and a daily sleep diary were completed for 7 consecutive days.
Overall, 68.6% of the sample had at least one type of sleep–wake difficulty (disorder or symptoms): 31.4% had insomnia and 29.4% had hypersomnolence as their main sleep–wake problem. Participants with insomnia as their main sleep difficulty had greater disruptions of subjective sleep parameters, while objectively-assessed sleep was more disrupted in patients with hypersomnolence comorbid with another sleep–wake difficulty.
Significance of the Results:
The high rates of sleep–wake difficulties found in this study indicate a need to screen more systematically for sleep–wake disorders, including insomnia and hypersomnolence, in both palliative care research and clinical practice, and to develop effective nonpharmacological interventions specifically adapted to this population.
Introduction: Decreasing readmission rates and return emergency department (ED) visits represent a major challenge for health organizations. Seniors are especially vulnerable to discharge adverse events which can result in unplanned readmissions and loss of physical, functional and/or cognitive capacity. The ACE Collaborative is a national quality improvement initiative that aims to improve care of elderly patients. We aimed to adapt Mount Sinai’s Care Transitions program to our local context in order to decrease avoidable readmissions and ED visits among seniors. Methods: We performed a prospective pre/post implementation cohort study. We recruited frail elderly hospitalized patients (≥50 years old) discharged to home and at risk of readmission (modified LACE index score≥7/12). We excluded patients being discharged to long-term nursing homes or institutions. Our intervention is based on selected strategic ACE Care Transitions best practices: transition coach, telehealth personal response services and a structured discharge checklist. The intervention is offered to selected patients before hospital discharge. Our primary outcome is a 30-day post-discharge composite of hospital readmission and return ED visit rate. Our secondary outcomes are functional autonomy, satisfaction with care transition, quality of life, caregiver strain and healthcare resource use at recruitment and at 30-days follow-up. Hospital-level administrative data is also collected to measure global effect of practice changes. Results: The project is currently ongoing and preliminary results are available for the pre-implementation cohort only. Patients in this cohort (n=33) were mainly men (61%), aged 75±10 years and presented an OARS score (Activities of Daily Living instrument that ranges from 0-28) of 5.6±4.9. At 30 days post-discharge, the patients in our cohort had a 42.4% readmission rate (14 hospitalisations) and a 54.5% return ED visit rate (18 visits). For the same time period, readmission and return ED rates for all patients in the same corresponding age-group at the hospital level were 14.4% and 21.9%, respectively. Further results for our post-intervention cohort will be presented at CAEP 2017. Conclusion: Our cohort of elderly patients have high readmission and return ED visit rates. Our ongoing quality improvement project aims to decrease these readmissions and ED visits.
Background: SIRPIDS were first described in 2004 in patients admitted in an intensive care unit. Despite few studies attempting to better characterize SIRPIDS, their pathophysiology and clinical implication remain uncertain. Methods: Adult patients hospitalized in an intensive care unit with alteration of consciousness who underwent EEG recording in three separate centers were included in this retrospective study. Demographic data and EEG findings were noted. Characteristics of SIRPIDS were documented. The main outcome measures included the incidence of SIRPIDS, association of SIRPIDS with mortality and other EEG characteristics, EEG and clinical predictors of mortality. Results: 416 patients were included and SIRPIDs were identified in 43 patients (10.3%). The proportion of patients with SIRPIDs was not significantly different across the three sites (p=0.3351). Anoxia (p=0.0009), antiepileptic medications (p=0.0109), electrographic seizures (p=0.0259), triphasic waves (p=0.0012) and epileptiform discharges (p=0.0242) were independently associated with the presence of SIRPIDs. Older age (p=0.0050), anoxia (p=<0.0001) and absence of EEG reactivity (p<0.0001), but not SIRPIDs (p=0.1668), were independently associated with in-hospital mortality. Conclusions: In critically ill patients undergoing EEG, SIRPIDs occurred in 10% and were associated with other electrographic abnormalities previously reported to indicate poor prognosis. SIRPIDs were not independently associated with in-hospital mortality.
Background: Recently, many cases of autoimmune encephalitis with positive GAD65 (Glutamic acid decarboxylase) antibodies have been described in the literature. However, it remains an understudied topic. Methods: We conducted a search on reported cases of anti-GAD65 encephalitis. Specific variables were identified as general characteristics, clinical manifestations, MRI and EEG findings, concomitant systemic autoimmune disorders and cancer, and outcome and autoantibodies findings. Results: We identified a total of 58 cases, from one to 70 years old. It most frequently presented with seizures (97%) and memory impairment (59%). It commonly occurred in association with systemic autoimmune disease, particularly diabetes (28%). Brain MRI was usually abnormal (78%); involvement of temporal lobes was more frequent than multifocal abnormalities (59% vs 16%). GAD65 antibodies were reported positive in CSF and/or serum (31% in serum only). Other antibodies such as GABABR, GABAAR and VGKC were concurrently reported positive in some cases (19%). However, we found that the vast majority of cases were not tested for all those cell-surface antibodies. Overall, no distinctive pattern of clinical and paraclinical findings was found. Persistent impairments were common. Optimal treatment remained undefined. Conclusions: Prospective studies recruiting patients with autoimmune encephalitis are needed to better elucidate the contributions of GAD65 autoantibodies, and to evaluate treatment and outcomes in this population.
Background: Planning for neurology training necessitated a reflection on the experience of graduates. We explored practice characteristics, and training experience of recent graduates. Methods: Graduates from 2010-2014 completed a survey. Results: Response rate was 37% of 211. 56% were female. 91% were adult neurologists. 65% practiced in an outpatient setting. 63% worked in academics. 85% completed subspecialty training (median 1 year). 36% work 3 days a week or less. 82% took general call (median 1 night weekly). Role preparation was considered very good or excellent for most; however poor or fair ratings were 17% in advocacy and 8% in leadership. Training feedback was at least “good” for 87%. Burnout a few times a week or more was noted by 5% (6% during residency, particularly PGY1 and 5). 64% felt overly burdened by paperwork. Although most felt training was adequate, it was poor or fair at preparing for practice management (85%) and personal balance (55%). Most conditions were under-observed in training environment. Many noted a need for more independent practice development and community neurology. Conclusions: Although our training was found to be very good, some identified needs included advocacy training, and more training in general neurology in the longitudinal outpatient/community settings.
Recently, many cases of autoimmune limbic encephalitis with positive GAD65
(glutamic acid decarboxylase) antibodies have been described in the
scientific literature. However, it remains an understudied topic of great
relevance to practicing neurologists. Thus, we report here a review of
published cases, in English, of autoimmune limbic encephalitis with this
type of antibodies, focusing on presenting symptoms and signs, associated
conditions, and findings upon investigation. We also report treatment
responses. We aim to offer a better description of the clinical spectrum of
autoimmune limbic encephalitis associated with GAD65 antibodies as well as
to expose its paraclinical features and outcome.
Background: Caspr2 is a transmembrane protein facilitating intercellular communication. It is found primarily in the central nervous system, specifically cerebellum and hippocampus. Anti-Caspr2 antibodies, more commonly seen in men (M/F: 4), also bind voltage-gated potassium channels. The antibodies are associated with limbic encephalitis, seizures, Morvan’s syndrome, peripheral nerve hyperexcitability, and cerebellar ataxia. Malignancy exists in 20% of cases. Methods: Case report and review of literature. Results: A 71-year-old man presented with subacute onset refractory seizures failing several anti-convulsants, emotional lability, and rapid decline in memory and executive function. EEG showed an electrographic seizure over the left hemisphere. MRI brain demonstrated mild diffuse cerebral atrophy, chronic ischemic changes, and mild diffusion restriction in the medial frontal lobes. Cerebrospinal fluid was normal. Serum Antithyroid peroxidase and antithyroglobulin antibodies were negative. TSH was slightly elevated and eltroxin didn’t help. Anti-Caspr2 antibodies were highly positive. EMG ruled out neuromyotonia. Body CT and PET scans indicated no malignancy. Treatment with IVIG stopped the seizures and cognition dramatically improved. Conclusions: Recognizing anti-Caspr2 antibody-associated encephalitis in elderly males with new onset refractory epilepsy and rapid cognitive decline is important for timely initiation of immunomodulation to avoid permanent deficits. Rapid executive dysfunction was unique in this case.
Environmental contamination of hospital rooms is well recognized as a reservoir for highly resistant nosocomial pathogens such as methicillin-resistant Staphylococcus aureu (MRSA) and vancomycin-resistant Enterococcus (VRE), which can be transferred to patients through contact with healthcare providers and contaminated surfaces. Numerous studies dedicated to environmental cleaning and disinfection have found promising results with several novel technologies, including vaporized hydrogen peroxide and ultraviolet over-head lighting or wands. We conducted a pilot study of one such device, the Sterilray Disinfection Wand (Healthy Environment Innovations), a handheld ultraviolet (UV) room decontamination wand. The Sterilray device claims to generate UV radiation in the far-UV spectrum (185-230 nm), resulting in the rapid killing of contaminant bacteria. The goal of this pilot was to collect preliminary data on the efficacy of this device in reducing surface contamination, particularly of common nosocomial pathogens, in an active hospital setting.
A 60-year-old American man who was hospitalized in India for 4 weeks after an intracranial bleed was transferred by air ambulance to a 249-bed community hospital in Maryland in January 2011. His clinical course is described elsewhere. Here, we describe the infection prevention considerations surrounding his care in the hospital. A sputum sample obtained from the patient grew a New Delhi metallo-β-lactamase-producing (NDM) Klebsiella pneumoniae (NDM-KP) strain and panresistant Acinetobacter species, among other pathogens. Two weeks later, a perirectal swab sample grew an NDM-1 Salmonella Senftenberg (NDM-SS) isolate, described elsewhere. Gut decolonization was attempted with rifaximin 300 mg every 12 hours for 12 days. The patient was discharged home 4.5 months later. He was readmitted to the hospital within 1 week and died shortly thereafter.
In recognition of his epidemiological risk factors, empiric contact isolation was instituted by the infectious disease physician who was consulted when the patient experienced a fever 24 hours after hospital admission. Once the NDM-KP strain was identified, a 1:1 nursing protocol was instituted for the patient; respiratory therapists, however, continued to care for other Patients. The patient's nurses were empowered to enforce strict contact isolation. Visitors were restricted to the patient's immediate family members. The hospital implemented an intensive education and communication program for the professional staff, nurses, respiratory therapists, ancillary personnel, and the patient's family.
We present a large outbreak of ESBL-producing Klebsiella pneumoniae in a neonatal intensive care unit that resulted in 31 colonized infants, 10 invasive infections, and 5 attributable deaths over a 5-month period. Although the source of infection was unknown, overcrowding and understaffing appeared to have been aggravating factors.