Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.

ISG15 deficiency is a rare disease caused by autosomal recessive variants in the gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 protein is essential for IFN-γ-dependent anti-mycobacterial immunity, while intracellularly, ISG15 is necessary for USP18-mediated downregulation of IFN-α/β signalling.

A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours.

There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise and targeted treatment to prevent irreparable organ damage or even death. Acute and severe hyper- inflammation may be caused by primary immunodeficiency (PID) with immune dysregulation, or more typical autoinflammatory diseases in the absence of obvious immunodeficiency.

Lentiviral Mediated Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2.

Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease caused by bi-allelic loss-of-function mutations in . Treatment with anti-TNF is effective for the autoinflammatory and vasculitic components of the disease but does not correct marrow failure or immunodeficiency; and anti-drug antibodies cause loss of efficacy over time. Allogeneic haematopoietic stem cell transplantation may be curative, but graft versus host disease remains a significant concern.

Barriers to the Success of Recreational Groups for Persons With Dementia.

Background: This paper describes barriers to engagement in the context of group activities attended by nursing home residents with dementia.

Objective: The goal is to clarify the presence and types of barriers to group activities for persons with dementia.

Methods: Therapeutic recreation staff (TRs) who conducted the group activities, and trained research observers (ROs) independently identified barriers occurring during group activity sessions through ratings and open-ended comments, which were analyzed via a mixed-method approach.

A case of Myhre syndrome mimicking juvenile scleroderma.

Background: Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contractures are often the main presenting features of the disease and may be mistaken for juvenile scleroderma.

Case Presentation: We report a case of a 13 year-old female presenting with widespread skin thickening and joint contractures from infancy.

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.

Objective: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma () gene and examine the functional role of the identified mutant Cbl protein. We hypothesized that mutated Cbl fails to act as a negative regulator of the RAS-mitogen-activated protein kinases (MAPK) signaling pathway, resulting in enhanced vascular fibroblast proliferation and migration and enhanced angiogenesis and collateral vessel formation.

Methods: We performed whole-exome sequencing in 11 separate families referred to Great Ormond Street Hospital, London, with suspected genetic cause for clinical presentation with severe progressive cerebral arteriopathy.

Attendance in Recreational Groups for Persons With Dementia: The Impact of Stimulus and Environmental Factors.

Objectives: Participation in group activities can benefit persons with dementia, alleviating boredom, improving affect, maintaining function, and decreasing problematic behaviors.

Methods: We describe patterns of attendance of residents with dementia at nursing home activity groups and investigate stimulus and environmental factors that may affect attendance.

Results: Residents participated in 60.

Social Engagement Care for Frail Older Persons: Desire for It and Provision by Live-In Migrant Caregivers.

Objectives: To describe social engagement care (SEC) provided by live-in migrant caregivers for frail older adults compared with care recipients' and families' wishes for such care.

Method: Interviews with care recipients, family members, and migrant caregivers assessed preferences for and provision of five types of SEC activities: knowing the older person as a person, knowing their main concerns, having personal conversations, going for walks, and sharing social or leisure activities.

Results: Care recipients and family proxies reported a moderate desire for SEC from migrant caregivers, except for sharing leisure activities, for which there was only a slight preference.

Sources of Discomfort in Persons with Dementia: Scale and Initial Results.

The Sources of Discomfort Scale (SODS) assesses discomfort manifestations based on source of discomfort, thus making it both distinct from and complementary to pain assessments for persons with dementia. Sources were categorized as pertaining to physical discomfort, to body position, and to environmental sources. Body position sources of discomfort were related to poor functional status and to pain.

Intergenerational Programs in Schools.

This study examined the prevalence, types, and perceived impact of intergenerational programs in schools. Programs involving senior volunteers assisting children, or children participating in activities with older people were considered. Of the schools reached, 47% reported intergenerational programming.

Phagocytosis-dependent activation of a TLR9-BTK-calcineurin-NFAT pathway co-ordinates innate immunity to Aspergillus fumigatus.

Transplant recipients on calcineurin inhibitors are at high risk of invasive fungal infection. Understanding how calcineurin inhibitors impair fungal immunity is a key priority for defining risk of infection. Here, we show that the calcineurin inhibitor tacrolimus impairs clearance of the major mould pathogen Aspergillus fumigatus from the airway, by inhibiting macrophage inflammatory responses.

An analysis of the relationships among engagement, agitated behavior, and affect in nursing home residents with dementia.

Background: Affect, behavior, and cognition can be considered as basic constructs that dictate human functioning, with intricate and bi-directional relationships among them. Prior to the present study, relationships among these constructs have not been systematically examined within the context of dementia.

Methods: Sample 1 contained 185 nursing home residents with a diagnosis of dementia.

Knowledge of and attitudes toward nonpharmacological interventions for treatment of behavior symptoms associated with dementia: a comparison of physicians, psychologists, and nurse practitioners.

Purpose Of The Study: Behavior problems are common in nursing homes. Current guidelines recommend nonpharmacological interventions (NPHIs) as first-line treatment, but pharmacological regimens (PIs) continue to be used. Given differences in background and training of those who treat behavior problems in residents, we compared attitudes of physicians (MDs), psychologists (PhDs), and nurse practitioners (NPs) concerning PI and NPHI usage as well as knowledge of NPHIs.

Quality of nursing home care: perceptions of physicians, psychologists, and nurse practitioners.

Physicians, psychologists, and nurse practitioners rated the quality of nursing home care and the importance and feasibility of improvement strategies. Overall care was rated better than care of residents, followed by treatment of staff. Physicians rated care highest and nurse practitioners rated it lowest.

Assessment and treatment of behavior problems in dementia in nursing home residents: a comparison of the approaches of physicians, psychologists, and nurse practitioners.

Objective: To compare physicians (MDs), psychologists (PhDs), and nurse practitioners (NPs) regarding their approach to dementia-associated behavior problems in nursing home residents.

Methods: A web-based questionnaire solicited information about symptoms, assessment methods, suspected etiologies, and interventions with respect to the last resident treated for dementia-associated behavior problems.

Results: Responses were obtained from 108 MDs, 38 PhDs, and 100 NPs.

Psychological correlates of performance in female athletes during a 12-week off-season strength and conditioning program.

Examination of the relationship between performance testing and psychological measures before and after a 12-week strength and conditioning program was the study's purpose. Female NCAA Division-III soccer (n = 28), field hockey (n = 28), and softball (n = 19) athletes completed pre- and post-testing held 12 weeks apart. On day 1, athletes completed informed consent, 3 psychological measures (Profile of Mood States [POMS], Physical Self Perception Profile [PSPP], and Athlete's Self Perception of Physical Abilities [ASPPA]), and 2 strength tests (1 repetition maximum [1RM] bench, 1RM back squat).

A comparison of eating practices of independently living older adults in private residences and in senior retirement housing: a pilot study.

This study investigated eating-related habits and their importance in older people and compared those living in private residences with those in senior retirement community housing. A convenience sample of 58 seniors answered eating-related items from the Self-maintenance Habits and Preferences in Elderly questionnaire (SHAPE). Meal location, companions, concurrent activities, portion size, and food variety differed between private and retirement housing for some meals, but the overall importance assigned to eating practices was similar.

Physicians' perceptions of their role in treating dementia-related behavior problems in the nursing home: actual practice and the ideal.

Objectives: To describe physicians' perceptions of their role in treating the behavior problems associated with dementia that commonly occur in the nursing home, both the way it is currently and the way they think it should be.

Design: This is a descriptive study presenting responses to a Web-based questionnaire.

Participants: Participants were 110 physicians who provide services in nursing homes.

Physicians' perceptions of care in the nursing home and of strategies for improvement in a survey on treatment of behavior problems.

Objectives: This paper reports on a survey documenting physicians' assessment of current levels of care in the nursing home and of the importance and feasibility of strategies to improve care.

Design: This is a descriptive study presenting responses to a Web-based questionnaire that asked about treatment of behavior problems in nursing homes as well as about perceptions of quality of care.

Setting: Nursing home.

Nursing home physicians' knowledge of and attitudes toward nonpharmacological interventions for treatment of behavioral disturbances associated with dementia.

Objectives: To describe the perceptions of physicians who care for nursing home residents regarding the etiology of behavior problems associated with dementia, their attitudes toward treatment, their knowledge of nonpharmacological interventions, and relationships among these issues and demographic variables and actual practice.

Design: This is a descriptive study presenting responses to a Web-based questionnaire.

Participants: Participants were 110 physicians providing services in a nursing home setting.

Assessment and treatment approaches for behavioral disturbances associated with dementia in the nursing home: self-reports of physicians' practices.

Objectives: Behavior problems are common in dementia, yet little is known about how physicians deal with these problems in practice. This article reports on a survey asking physicians to describe, with respect to the last nursing home resident with dementia they treated for behavior problems, the behaviors observed, assessment methods used, suspected etiology of the problem, types of intervention, and their reaction to the intervention process.

Design: This is a descriptive study presenting responses to a Web-based questionnaire.

Changes in habits related to self-care in dementia: the nursing home versus adult day care.

Little is known about the changes that occur for older persons with dementia in the practice of self-care routines. This study assesses the concordance of past and current self-care practices of day care and nursing home persons using spouse reports, the degree of spouse awareness of these changes, and spouse perception of how important self-care practices had been to their partner. Participants were spouses of 12 older persons with dementia in day care and spouses of 20 nursing home residents.

Self-maintenance Habits and Preferences in Elderly (SHAPE): reliability of reports of self-care preferences in older persons.

Background And Aims: Self-care preferences can be used in designing programs of care. Yet little has been documented concerning the self-care habits and preferences of older adults.

Methods: This study assessed the reliability of reports of self-care preferences and their importance among older adults using the Self-maintenance Habits and Preferences in Elderly (SHAPE) instrument.