Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses

To understand neurological complications of COVID-19 better both acutely and for recovery, we measured markers of brain injury, inflammatory mediators, and autoantibodies in 203 hospitalised participants; 111 with acute sera (1–11 days post-admission) and 92 convalescent sera (56 with COVID-19-associated neurological diagnoses). Here we show that compared to 60 uninfected controls, tTau, GFAP, NfL, and UCH-L1 are increased with COVID-19 infection at acute timepoints and NfL and GFAP are significantly higher in participants with neurological complications. Inflammatory mediators (IL-6, IL-12p40, HGF, M-CSF, CCL2, and IL-1RA) are associated with both altered consciousness and markers of brain injury. Autoantibodies are more common in COVID-19 than controls and some (including against MYL7, UCH-L1, and GRIN3B) are more frequent with altered consciousness. Additionally, convalescent participants with neurological complications show elevated GFAP and NfL, unrelated to attenuated systemic inflammatory mediators and to autoantibody responses. Overall, neurological complications of COVID-19 are associated with evidence of neuroglial injury in both acute and late disease and these correlate with dysregulated innate and adaptive immune responses acutely

Patient perceptions of implantable cardioverter-defibrillator deactivation discussions: A qualitative study

Background: There is a class I recommendation for implantable cardioverter-defibrillator deactivation discussions to occur between physicians and heart failure patients. Few studies have reported the patient’s perspective on the timing of implantable cardioverter-defibrillator deactivation discussions. Aim: To determine patient awareness, preferences and timing of implantable cardioverter-defibrillator deactivation discussions. Design: Grounded theory was used to collect and analyze interview data from 25 heart failure patients with an implantable cardioverter-defibrillator. Setting and participants: Patients with an implantable cardioverter-defibrillator, from the Heart Function Clinic at University Health Network (Toronto, Canada). Results: The sample (n = 25) was predominately male (76%) with an average age of 62 years. Patients identified three stages where they felt implantable cardioverter-defibrillator deactivation should be discussed: (1) prior to implantation, (2) with any significant deterioration but while they were of sound mind to engage in and communicate their preferences and (3) at end of life, where patients wished further review of their previously established preferences and decisions about implantable cardioverter-defibrillator deactivation. Most patients (n = 17, 68%) said they would consider deactivation, six (24%) were undecided and two (8%) were adamant they would never turn it off. Conclusion: The patient preferences identified in this study support the need to include information on implantable cardioverter-defibrillator deactivation at implant, with change in clinical status and within broader discussions about end-of-life treatment preferences. Using this process to help patients determine and communicate their implantable cardioverter-defibrillator deactivation preferences may reduce the number of patients experiencing distressing implantable cardioverter-defibrillator shocks at end of life

Pilot Study of an Internet Patient-Physician Communication Tool for Heart Failure Disease Management

Reviewer: Ross, Stephen[This item is a preserved copy and is not necessarily the most recent version. To view the current item, visit http://www.jmir.org/2005/1/e8/ ] Background: Internet disease management has the promise of improving care in patients with heart failure but evidence supporting its use is limited. We have designed a Heart Failure Internet Communication Tool (HFICT), allowing patients to enter messages for clinicians, as well as their daily symptoms, weight, blood pressure and heart rate. Clinicians review the information on the same day and provide feedback. Objective: This pilot study evaluated the feasibility and patients’ acceptability of using the Internet to communicate with patients with symptomatic heart failure. Methods: Patients with symptomatic heart failure were instructed how to use the Internet communication tool. The primary outcome measure was the proportion of patients who used the system regularly by entering information on average at least once per week for at least 3 months. Secondary outcomes measures included safety and maintainability of the tool. We also conducted a content analysis of a subset of the patient and clinician messages entered into the comments field. Results: Between May 3, 1999 and November 1, 2002, 62 patients (mean age 48.7 years) were enrolled.. At 3 months 58 patients were alive and without a heart transplant. Of those, 26 patients (45%; 95% Confidence Interval, 0.33-0.58) continued using the system at 3 months. In 97% of all entries by participants weight was included; 68% of entries included blood pressure; and 71% of entries included heart rate. In 3386 entries out of all 5098 patient entries (66%), comments were entered. Functions that were not used included the tracking of diuretics, medications and treatment goals. The tool appeared to be safe and maintainable. Workload estimates for clinicians for entering a response to each patient’s entry ranged from less than a minute to 5 minutes or longer for a detailed response. Patients sent 3386 comments to the Heart Function Clinic. Based on the content analysis of 100 patient entries, the following major categories of communication were identified: patient information; patient symptoms; patient questions regarding their condition; patient coordinating own care; social responses. The number of comments decreased over time for both patients and clinicians. Conclusion: While the majority of patients discontinued use, 45% of the patients used the system and continued to use it on average for 1.5 years. An Internet tool is a feasible method of communication in a substantial proportion of patients with heart failure. Further study is required to determine whether clinical outcomes, such as quality of life or frequency of hospitalization, are improved

Innovating with the Model of Human Occupation in Mental Health

This article describes a new approach in a group of National Health\ud Service trusts in the United Kingdom. The assessment and intervention\ud were focused on using the Model of Human Occupation\ud in Mental Health services. An occupation focused assessment and\ud intervention protocol were developed based on the Model of Human\ud Occupation Screening Tool Single-Observation Form (MOHOSTSOF).\ud The aim was to develop a guide to treatment and monitoring\ud to support efficient practice while maintaining an occupation and\ud client-centered focus. Implementation has been successful to date

Service related needs of older people with dementia: perspectives of service users and their unpaid carers.

Background: Dementia is a major cause of disability among older people and constitutes one of the greatest challenges currently facing families, and health and social care services in the developed world. In response to trends in dementia prevalence and the impact the condition has on peoples' lives, dementia care has been placed high on the public and political agenda in the UK. However, despite significant public resources being allocated to combat the impact of the disease, recent evidence indicates that numerous challenges in relation to service provision remain. This study aimed to develop a deeper understanding of the lived experience of people with dementia regarding their service related needs. Method: The study made use of data gathered through individual semi-structured, narrative interviews conducted with persons with experience of dementia and their unpaid carers. Results: Although participants were generally satisfied with the services they received, a number of unmet needs related to service provision were identified. In terms of diagnostic procedures the findings of this study indicate the need for early diagnosis delivered through a comprehensive assessment package. The participants also highlighted the need for well co-ordinated post-diagnostic support, greater continuity of care concerning the personnel involved, and enhanced access to non-pharmacological interventions to support identity and social engagement. Conclusion: This study contributes to a better understanding of service related needs of people with dementia in relation to diagnostic procedures and post-diagnostic support.sch_occ25pub3135pub

Chapter 22: Applying the Model of Human Occupation to Individuals With Mental Health Conditions

Kirsty Forsyth - ORCID: 0000-0002-6732-1699 https://orcid.org/0000-0002-6732-1699Donald Maciver - ORCID: 0000-0002-6173-429X https://orcid.org/0000-0002-6173-429XMichele Harrison - ORCID: 0000-0001-6088-2998 https://orcid.org/0000-0001-6088-2998Item is not available in this repository.https://ot.lwwhealthlibrary.com/content.aspx?bookId=3270&sectionId=256365419&resultClick=1inpressinpres