Neuroacanthocytosis

Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progressive neurological decline.[1] The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures.[2] Specific diseases are many, including chorea-acanthocytosis (ChAc),[3] McLeod syndrome (MLS),[4] Huntington like-disease 2 (HDL2),[5] pantothenate kinase-associated neurodegeneration (PKAN, also known as Hallervorden Spatz disease),[6][7] HARP Syndrome (considered part of the PKAN spectrum consisting of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), abetalipoproteinemia (ABL),[8] hereditary hypobetalipoproteinemia (HHBL),[9] and aceruloplasminemia.[10][11] The two core conditions are chorea-acanthocytosis and McLeod Syndrome. Each neuroacanthocytosis disorder is extremely rare, with a prevalence of less than 1 to 3 per 1,000,000 individuals for PKAN or fewer than 100 cases ever reported in the case of ABL

REM Rebound Effect

Sleep is a state consisting of several different stages of reversible disconnection from the environment with accompanying reduced consciousness, atonia, and metabolic changes. These stages are primarily divided into rapid-eye-movement (REM) sleep, which is characterized by classic ocular saccadic movement and fast-wave EEG patterns reminiscent of wakefulness, and non-rapid-eye movement (NREM) which can be subdivided further into three stages each distinguished by distinct EEG wave patterns. Normally an individual will progress through a predictable cycle of stages beginning with wakefulness, then through each stage of NREM sleep before quickly reversing through the stages to enter REM sleep. The maintenance of appropriate sleep architecture appears to play an important role in promoting physiological and mental health. Such health benefits may include modulating memory, emotion, and cognitive integration of stressors and mechanisms are in place to restore sleep homeostasis if sleep is disrupted. One of these mechanisms is REM rebound, which refers to the compensatory increase of the frequency, depth, and intensity of rapid-eye-movement (REM) sleep following sleep deprivation or significant stressors. Several experimental studies utilizing EEG and hormonal measurements have illustrated that human and animal participants who experience sleep deprivation or significant stressors will experience increased frequency and intensity of REM sleep to compensate for said deprivation

Physiology, REM Sleep

Sleep is a reversible state of disconnection from the environment, including reduced consciousness, skeletal muscle mobility, and metabolism. All forms of sensory responses are markedly decreased to varying degrees depending on the sleep cycle stage. Although this phenomenon is observed in all species that have been studied and occupies a significant fraction of the human lifespan, the purpose and function of sleep remain poorly understood. Sleep is measured primarily by polysomnography (PSG) which is considered the gold standard for diagnosing sleep disorders.. PSG reveals that sleep architecture has several distinct stages that vacillate between the non-rapid eye movement (NREM) stages and rapid eye movement (REM) stages. The REM stage is of particular interest due to its association with various pathological, psychological, and physiological phenomena. The wide variety of medical and psychiatric pathologies, as well as common pharmacotherapies that can disrupt normal sleep, are summarized in this article. With more than 50 million Americans affected by sleep loss, the treatment of sleep disorders is becoming an increasingly more specialized and interprofessional field with a significant impact on patient health in both acute and chronic settings

Supporting Family Members of Youth in Mental Health Crisis

The Sibling Support Program: A Family-Centered Mental Health Initiative, developed at the E.K. Shriver Center of UMass Medical School, addresses the impact of a youth’s mental health challenges on typically-developing siblings and caregivers. The project is an IRB-approved research study at Cambridge Health Alliance, and the principles of the project have been implemented at three sites in Worcester that provide gradated levels of care, ranging from residential to community-based. Findings show that regardless of the severity of a child’s mental health challenges, as evidenced by the level of care the child receives, family members display a similar need for support. The three sites in Worcester are: Continuing Care Units (CCU) at Worcester Recovery Center & Hospital; the Center for Autism and Neurodevelopmental Disorders (CANDO) at UMass Medical School; and a community collaboration between the Massachusetts Child Psychiatry Access Program (McPAP), the Parent/Professional Advocacy League (PPAL), and the department of psychiatry at UMass Medical School. The project aims to increase resiliency and mitigate the trauma commonly experienced by siblings of youth with mental health needs; build skills, competency and confidence among parents; strengthen the family unit; and build capacity among psychiatry trainees. Interventions include psycho-educational groups for caregivers and sibling support groups for children growing up alongside the affected youth. Participants completed surveys following the intervention to report on knowledge learned, satisfaction level, and behavioral change anticipated by the participant. This innovative program utilizes parent mentors and trainees to deliver interventions, with high satisfaction scores among participants. Results suggest that a child’s mental health challenges can be traumatic for family members, and that sharing stories and being introduced to coping skills can help alleviate the stress and anxiety related to living with a child with mental health issues. The program serves as a training elective for psychiatry residents at UMMS

Separation Anxiety

Separation anxiety disorder (SAD) is one of the most common childhood anxiety disorders. SAD refers to an exaggeration of otherwise developmentally normal anxiety manifested by excessive concern, worry, and even dread of the real or anticipated separation from an attachment figure. Although separation anxiety is a developmentally appropriate phenomenon, the disorder manifests with inappropriate intensity or the inappropriateness of age and context. Although The Diagnostic and Statistical Manual of Mental Disorders, Edition 4 (DSM-IV) had limited the diagnosis of SAD to children and adolescents, the diagnosis has been extended to include SAD first diagnosed in adulthood in the 5th edition (DSM-V). SAD has serious implications for quality of life and functioning across several areas of life, including work, social interactions, and close relationships. SAD has been described as a gateway anxiety disorder that can lead to a variety of poor mental and physical health outcomes, including excessive worry, sleep issues, excessive distress in social settings, poor academic performance, and somatic complaints. Despite its prevalence, SAD is often underdiagnosed and undertreated. One of the marked differences in children diagnosed with separation anxiety compared to adults is the type of attachment figures involved. In the case of children, the attachment figures are usually adults, such as parents. Adults, in contrast, experience anxiety when experiencing real or anticipated separation from children, spouses, or romantic partners

Rosai-Dorfman Disease: Self-Resolving Unilateral Lymphadenopathy and a Brief Review of Literature

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a disease of histiocytic proliferation with no known pathogenesis. This disease is defined by histological and cytological characteristics, including emperipolesis and positive S100 and CD68 markers. Although the disease typically presents clinically with massive bilateral lymphadenopathy due to sinus expansion from excessive histiocytosis, only unilateral lymphadenopathy was observed in this patient. The case involves a 40-year-old Caucasian male from the Netherlands presenting with unilateral lymphadenopathy suspicious for malignancy. Subsequent histological and laboratory testing led to the rare diagnosis of RDD. The lymphadenopathy resolved spontaneously over the course of several weeks following the initial presentation. Rosai-Dorfman disease reportedly has a benign prognosis with approximately 20% of patients experiencing spontaneous disease resolution (as was the case for this patient) with 70% experiencing chronic symptoms that may last years but not require intervention. We therefore advocate observation as a mainstay of treatment for most cases of this rare disease with intervention only being pursued in symptomatic cases. A review of recent literature regarding pathogenesis, epidemiology, diagnostic factors, prognosis, and treatment is provided and discussed

Brief Psychotherapeutic Intervention in Pediatric Acute Settings (BPI-PAS): Implementation of a Multidisciplinary Approach in a Dedicated Pediatric Psychiatric Emergency Department and its Effect on Stress Management

Over the last few decades, pediatric visits for mental health concerns have been rapidly increasing in the United States with recent studies suggesting that the number of mental health emergency department (ED) visits from 2012 to 2016 was four times greater than ED visits for other medical concerns. This crisis has only worsened in the waning emergent phase of the COVID-19 pandemic; many patients experience extended wait times and often spend days in the ED awaiting placement and stabilization. Rady Children’s Hospital houses a psychiatric emergency department within the emergency department (ED) to evaluate and stabilize patients in acute mental health crises. Pediatric emergency departments rarely offer therapeutic interventions or protocols for patients awaiting evaluation or placement. Our goal is to implement psychosocial and therapeutic modalities as a crisis intervention to improve perceived stress and the ability to manage stressors

Sibling Support Program: A Novel Peer Support Intervention for Parents, Caregivers and Siblings of Youth Experiencing Mental Illness

Caregivers and siblings of youth with mental illness often experience role-related psychological challenges, and it is important to focus on the needs of these family members. Existing literature demonstrates that caregivers and affected children benefit from participation in peer support and family-centered programs. This paper describes the Sibling Support Program: A Family-Centered Mental Health Initiative (SSP), a novel intervention for families of youth with mental illness. The SSP distinguishes itself from existing family-centered programs in that it utilizes a unique combination of peer support, parent mentor guidance, and clinician-led group therapy. The paper details the structure of the treatment model and presents preliminary data from participant surveys. Results show preliminary indications that the program provides both emotional and practical benefits. Along with high satisfaction ratings, family members report decreased feelings of isolation, gains in knowledge, and more positive thinking after program participation. Caregivers report that the SSP helped improve their understanding about the impact of a child’s mental illness on family members, and that they learned about effective family management strategies and access to resources. Siblings report learning coping strategies and feeling better after meeting peers with shared experiences

Hundemenschen und Mensch-Hund-Biografien : über die Gestaltung von multi-species family lives und deren biografische Folgen

Die Interaktion mit Tieren, besonders die Interaktion mit Hunden, ist ein Charakteristikum gegenwärtigen Soziallebens in unserer Kultur. Vor diesem Hintergrund entstand die Foschungsthese, dass Hunde unsere Lebensführung und somit auch unsere Biografie grundlegend und genauso, wie Menschen es tun, beeinflussen können. Insofern ist die vorliegende Arbeit am Kreuzungspunkt der Biografieforschung und der Human-Animal Studies zu verorten; über die Entwicklung und den aktuellen Stand dieser beiden Forschungsrichtungen wird zu Beginn ein Überblick gegeben. Zu den Forschungsfragen zählen, welche Rollen Hunde in Mensch-Hund-Beziehungen einnehmen können, warum Menschen die Nähe und das enge Zusammenleben mit Hunden suchen, warum und wie es dazu kommt, dass Hunde zu bedeutsamen Lebensveränderungen führen. Diesen Fragen wird mit Hilfe der Methoden der teilnehmenden Beobachtung, der dichten/aktiven Teilnahme sowie durch informelle und geplante Gespräche nachgegangen. Im ersten Teil der Arbeit werden Hund-Mensch-Biografien und die gegenseitige Beeinflussung der Lebensläufe beschrieben, interpretiert und analysiert. Im zweiten Teil werden die Hundehaltung als Lebensstil, das Leben als Hundemensch und das Führen von multi-species family lives sowie die Beweggründe dafür dargestellt und untersucht. Die Forschung ergab, dass je nach Kontext und je nach den Zuschreibungen durch den Menschen Hunde biografische Akteur*innen und biografische Agents sein können. Durch das gegenseitige Geben und Nehmen in den multi-species family lives kann das Zusammenleben von Hunden und Hundemenschen als Symbiose bezeichnet werden. Daher wird in der Arbeit der Begriff der symbiotischen Mensch-Hund-Biografie eingeführt und konstatiert, dass ein nicht anthropozentrisches und akteur*innenzentriertes Kulturverständnis, nach dem handelnde Akteur*innen Kultur gestalten und zugleich selber von dieser Kultur geprägt werden, auch Hunde mit einschließen müsse.Interaction with animals, especially with dogs, is a characteristic of social life in our culture, in our society. The theme of this thesis draws on this fact, stating that dogs can fundamentally influence our conducts of life and thus our biographies in the same way humans do. This thesis is located at the intersection of biography studies and human-animal studies. The research questions are: What kind of roles do dogs play in human-dog relationships? Why do people seek being close to dogs or living together with them? Why and how do dogs change people's lives? These questions are analyzed through methods of participant observation and close/active participation, following informal and systematic talks and interviews and processual fieldwork with dog people.In the first part of the thesis dog-human biographies and the mutual influences of humans and dogs on their respective lives are described, interpreted and analyzed. In the second part, dog keeping as a lifestyle, the lives of dog people as well as multi-species family lives and the motivation for such a way of living are illustrated and examined.The research revealed that dogs can be biographical actors and agents depending on the contexts and on attributions by humans. Because of the give-and-take basis of multi-species family lives, the cohabitation of dogs and dog people can be described as a symbiosis. Consequently, we can identify the actor duo dog-human and we can introduce the term symbiotic human-dog biography. According to an actor-centred culture concept that looks at actors as both actively forming culture and being formed by culture, dogs need to be seen as actors also in ethnographic research.vorgelegt von Susanne Verena Judith Schicho, BA BAAbweichender Titel laut Übersetzung des Verfassers/der VerfasserinZusammenfassung in Deutsch und EnglischKarl-Franzens-Universität Graz, Masterarbeit, 2017(VLID)228719

Decreased frontal cortex levels of 20:5-containing phosphatidylcholines (PtdC) in Lewy body disease with intermediate Alzheimer’s disease (LBD-I-AD), Lewy body disease with Alzheimer’s disease (LBD-AD), and Parkinson’s disease (PD) tissues.

<p>R = ratio of the peak area of the endogenous PtdC to the peak area of the internal standard (mean ±SEM). *, p < 0.01; #, p < 0.05 vs controls.</p