Purpose To develop the novel multidimensional health perceptions questionnaire (MHPQ), a self-reported assessment of health perceptions inclusive of (1) individuals beliefs about the causes and consequences of health conditions, benefits and barriers to maintaining and improving health, ability to accomplish health-related goals and control health circumstances, and the role of God and/or spirituality in health and healthcare, (2) anticipated discrimination in the healthcare systems, and (3) trust in healthcare providers and medicine, illustrated in our newly proposed Multidimensional Health Perceptions Conceptual Model. Methods We developed an initial MHPQβ item set, corresponding to domains of our conceptual model, using a patient-centered outcomes development approach. This include literature review, expert and end-user feedback, translation and language validation (specifically to Latin American Spanish), and cognitive interviewing. Results The initial 104 items of MHPQβ had excellent content validity, with a Content Validity Index of 98.1%. After expert (n = 13) feedback, translation and language validation, and cognitive interviewing among community-dwelling English-speakers (n = 5) and Spanish-speakers (n = 4), the final MHPQβ comprised 93 items rated on a five-point agreement scale (1 = Strongly disagree to 5 = Strongly agree), with a reading grade level of 6th grade in English and 8th grade in Spanish. Conclusion The MHPQβ is a promising tool to assess individuals’ health perceptions. It has excellent content validity and good reading accessibility. Future work will establish the factor structure and final item set of the MHPQ.
Background: Hippocampal volumetric data are widely used in research but are rarely examined in clinical populations in regard to aiding diagnosis or correlating with objective memory test scores.Objective: To replicate and expand on the few prior clinical examinations of the utility of hippocampal volumetric data. We evaluated MRI volumetric data to determine (a) the degree of hippocampal loss across diagnostic groups compared with a cognitively intact group, (b) if total or lateralized hippocampal volumes predict diagnostic group membership, and (c) how total and lateralized volumes correlate with memory tests. Method:We retrospectively examined hippocampal volumetric data and memory test scores for 294 individuals referred to a memory clinic.Results: Individuals with mild cognitive impairment or Alzheimer disease had smaller hippocampal volumes compared with cognitively intact individuals. The raw and normalized total and lateralized hippocampal volumes were essentially equal for predicting diagnostic group membership, and notably low hippocampal volumes evidenced greater specificity than sensitivity. All of the volumetric data correlated with the memory test scores, with the total and left hippocampal volumes accounting for the slightly more variance in the diagnostic groups. Conclusion:The diagnostic groups exhibited hippocampal volume loss, which can be a potential biomarker for neurodegenerative disease in clinical practice. However, solely using hippocampal volumetric data to predict diagnostic group membership or memory test failure was not supported. While extreme hippocampal volume loss was rare in the cognitively intact group, the sensitivity of these volumetric data suggests a need for supplementation by other tools when making a diagnosis.
Dementia is a functional decline due to cognitive impairment, and its presence is required to make a diagnosis of dementia with Lewy bodies (DLB). Evaluation and management of cognitive impairment in DLB is complex and requires consideration of cognitive fluctuations as well as motor and behavioral symptoms. This article reviews the literature surrounding evaluation and management of cognitive impairment in DLB, highlighting the specific cognitive profile typically seen in early DLB as well as the available evidence for management of these symptoms. There are several pharmacological and nonpharmacological treatment strategies that are currently under investigation, and these are reviewed as well. [ Psychiatr Ann. 2022;52(10):404–409.]
Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary disease. It is linked to mutations in the high-temperature requirement A serine peptidase 1 gene ( HTRA1 ). The clinical presentation is characterized by cerebral small vessel disease, alopecia, and spondylosis. CARASIL was initially thought to be a recessive disorder and exclusively exist in Asian populations. The paradigm of CARASIL has recently expanded. Genetically confirmed heterozygous mutations and manifestation in other ethnicities were reported. A few cases were reported in Hispanic and Caucasian populations but none in the African population. Here we report a new homozygous mutation in a Hispanic male and a known heterozygous mutation in an African female. Methods: Patients underwent routine ischemic stroke work up and risk factor management. MRI brain results were consistent with severe small vessel disease out of proportion to age. Genetic testing for vascular dementia for NOTCH-3 and HTRA1 in Patient 1 and only HTRA1 in Patient 2 were performed through Mayo Clinic. Results: Table 1. Patient Characteristics and HTRA1 Mutations Discussion: The prevalence of CARASIL is unknown but probably underestimated. Since the recognition of heterozygous HTRA1 mutation in CARASIL, more cases of heterozygous HTRA1 mutations have been reported. One of the clinical CARASIL triad -alopecia was not reported or observed in our cases. Cases of CARASIL without alopecia have been reported. Thus, CARASIL should still be suspected in the appropriate clinical presentation even if there is no classic triad or in non-Asian populations. Our cases expanded CARASIL mutations and affected populations. Being more aware of the broad clinical presentation of CARASIL can lead to early diagnosis.
Background Familial hypercholesterolaemia (FH) is a genetic disorder characterized by high levels of cholesterol with evidence of coronary arterial disease at an early age. The prevalence of FH has been recently reported as 1/200 to 1/250 in the general population and although early identification and treatment is recommended (2019 ESC/EAS Guidelines for the Management of Dyslipidaemias), the disorder is largely underdiagnosed in asymptomatic individuals.1 A number of blood programs has recognised the opportunity that blood donation provides to identify ostensibly healthy individuals who might be unaware of risks to their health. These programs have included, along with mandated serological testing, such assays as non-fasting total cholesterol (TC) and haemoglobin A1C. They have also taken steps to notify individuals whose results suggest risk for cardiovascular disease or diabetes. Purpose Since our blood donation program has a long history of providing donors information about their TC, we tested whether some donors with elevated TC met the criteria for FH. Methods We reviewed unlinked total non-fasting cholesterol results from volunteers donating between 2015 and June 2019. Cholesterols were measured on a chemistry analyzer system (Beckman Coulter AU680) on residual blood after routine testing for infectious disease markers. For volunteers donating more than once, we included only their highest TC recording. TC was classified by American Heart Association (AHA) 2020 Goal Metrics as high, if ≥240 mg/dL (6.2 mmol/L) in donors ≥20 years of age and ≥200 (5.1 mmol/L) in donors <20 years of age. 2 We applied the United States Center for Disease Control Cooperative MEDPED diagnostic criteria for FH. Using these criteria, FH is diagnosed when TC exceeds 270 mg/dL (7.0 mmol/L) in individuals less than 20, 290 mg/dL (7.5 mmol/L) in individuals 20 to 29, 340 mg/dL (8.8 mmol/L) in individuals 30 to 39, and 360 mg/dL (9.3 mmol/L) in individuals 40 years of age and older. 3 Results There were 432,389 unique donors during the study period. The overall prevalence of high cholesterol, 11.1% and the prevalence of FH 0.24% are similar to published data for the general population. As shown in the table, the prevalence of FH was highest in blood donors 20 to 29 years of age and was lower in those over 30 years, while the prevalence of high TC was higher in older age groups. Conclusion There is a subset of blood donors, at all ages who can be identified as satisfying familial hypercholesterolaemia criteria that could benefit from additional evaluation and family screening. A sizeable proportion of blood donors have high cholesterol despite not having FH. Funding Acknowledgement Type of funding sources: None.
Several important questions regarding cognitive aging and dementia in older people with multiple sclerosis (PwMS) are the focus of this narrative review: Do older PwMS have worse cognitive decline compared to older people without MS? Can older PwMS develop dementia or other neurodegenerative diseases such as Alzheimer’s disease (AD) that may be accelerated due to MS? Are there any potential biomarkers that can help to determine the etiology of cognitive decline in older PwMS? What are the neural and cellular bases of cognitive aging and neurodegeneration in MS? Current evidence suggests that cognitive impairment in MS is distinguishable from that due to other neurodegenerative diseases, although older PwMS may present with accelerated cognitive decline. While dementia is prevalent in PwMS, there is currently no consensus on defining it. Cerebrospinal fluid and imaging biomarkers have the potential to identify disease processes linked to MS and other comorbidities—such as AD and vascular disease—in older PwMS, although more research is required. In conclusion, one should be aware that multiple underlying pathologies can coexist in older PwMS and cause cognitive decline. Future basic and clinical research will need to consider these complex factors to better understand the underlying pathophysiology, and to improve diagnostic accuracy.
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