There is no generally accepted instrument for measuring quality of life (QOL) in patients with ALS. Current instruments are either too heavily weighted toward strength and physical function or useful ...for the evaluation of individuals but of less utility in assessing large samples.
To develop and evaluate the psychometric properties of an ALS-specific QOL instrument (the ALSSQOL) that would reflect overall QOL as assessed by the patient and would be valid and reliable across large samples.
The ALSSQOL is based on the McGill Quality of Life Questionnaire (MQOL), modified by changes in format and by adding questions on religiousness and spirituality, items derived from interviews with ALS patients, and items identified from open-ended questions administered during the MQOL. The psychometric properties of the ALSSQOL were assessed by a prospective multicenter study in which participants completed the ALSSQOL, other instruments measuring overall QOL, and instruments assessing religiousness, spirituality, and psychological distress.
A 59-item ALSSQOL was developed; 342 patients evaluated its psychometric properties. Completion time averaged 15 minutes. Forty-six items loaded on six factors. The ALSSQOL demonstrated concurrent, convergent, and discriminant validity for the overall instrument and convergent validity for its subscales. Analysis of individual items permitted insight into variables of clinical importance.
This new ALS-specific quality of life instrument is a practical tool for the assessment of overall quality of life in individuals with ALS and appears to be valid and useful across large samples. Validation studies of a shortened version are now under way.
Allogeneic hematopoietic stem cell transplant (HSCT) remains the mainstay in treating many hematologic malignancies. T-cell–depleted grafts designed to reduce graft-vs.-host disease (GVHD) may be ...complicated by severe viral infections that increase morbidity and mortality. Despite the use of antiviral pharmacologic therapy, challenges in controlling viral infections include drug resistance and/or side-effect intolerability. Virus-specific T-cell (VST) therapy is a promising targeted therapy for treating severe or drug-refractory viral infections after HSCT. An integrative review was conducted to inform advanced practitioners of the adverse effects associated with VST. A total of 836 articles were identified using PubMed, Scopus, and CINAHL databases, with 7 included in this review. Studies reviewed indicate that the adverse effects associated with VST therapy are limited and generally treatable. These studies reported low rates of adverse events of mild to moderate severity, including acute, recurrent, chronic, and de novo GVHD; cytokine release syndrome; infusion toxicity; and other adverse events. No deaths were attributed to VSTs in these studies.
Abstract
Introduction
Sleep valuation, the relative worth of one’s own sleep, is an under-explored construct that could have implications on sleep health. This study sought to validate the Sleep ...Valuation Questionnaire (SVQ) and to explore demographic differences in sleep valuation.
Methods
Participants (N = 946) recruited through TurkPrime were stratified across age (18-99), race (50% White, 17% Black, and 8.33% for each American Indian, Asian, Pacific Islander, and other), Hispanic ethnicity (20%), gender (50/50 female/male), employment status (50% employed full time and 8.33% for each part time, homemaker, retired, student, temp worker. unemployed, and disabled), Participants completed a demographic survey, followed by the original 43 item SVQ completed twice. Iterated principal factoring with a Promax solution was used to identify the factor structure of the SVQ. Cronbach’s alpha and correlation analyses were also used to help identify items with poor reliability. Total sleep valuation, the sum of valid items on the SVQ, was used as the dependent variable in a multiple regression analysis. Age, gender, race, work status, socioeconomic status, educational level, marital status, and general health and mental health estimates served as independent variables.
Results
After removing items with weak factor loadings (<0.6), poor reliability, and weak face validity, the number of items were reduced to 10, which loaded on to 2 factors: Sleep Desire and Sleep Need. Those who cohabitate had lower SVQ scores than married individuals (p=0.04), full-time workers had higher SVQ scores than non-full-time workers (p=0.001), higher age was associated with lower SVQ scores (p<0.001), and higher general mental health was associated with lower SVQ scores (p<0.001).
Conclusion
This is the first study to explore how demographic variables relate to sleep valuation. The SVQ may help identify factors that contribute to sleep valuation and sleep valuation relates to sleep behavior, sleep health, and sleep treatment utilization.
Support
None
Clearance of lysosomal glycogen has been shown after treatment with ERT (alglucosidase alfa) in LOPD patients. However, there is little data assessing glycogen clearance in ERT-treated LOPD patients. ...This Phase 4, controlled, prospective study evaluated skeletal muscle pathology and ERT response in ERT-naïve LOPD patients. Methods: 15 LOPD patients received alglucosidase alfa 20 mg/kg bi-weekly for 24 weeks. Quadriceps and deltoid biopsies were taken at baseline and week 26. Biopsies were prepared by HRLM and electron microscopy and assessed for glycogen accumulation and secondary pathology. Results: Evaluable baseline and 6-month quadriceps and deltoid biopsies were available for 13 and 10 patients, respectively. Baseline total glycogen (lysosomal plus cytoplasmic glycogen) levels were consistently higher in quadriceps than deltoid muscles. Total glycogen levels in most post-treatment quadriceps and deltoid biopsies were reduced or stable at 6 months vs. baseline. Baseline biopsy examination showed that glycogen was present within lysosomes and in cytoplasm. Post-treatment biopsies revealed that remaining glycogen was overwhelmingly extra-lysosomal and lysosomal glycogen was qualitatively reduced. Secondary changes included occasional foci of autophagic debris. No fibrosis, inflammation or fatty replacement was observed. Conclusions: This is the first proof-of-concept assessment of the histopathologic effects of ERT in LOPD patients. ERT reduced lysosomal glycogen; extra-lysosomal, cytoplasmic glycogen remained in biopsies after 6 months of ERT. This extra-lysosomal glycogen may evolve from the disruption of the lysosomal membrane and leakage of glycogen into the cytoplasm by the repetitive biomechanical forces of muscle contraction which occur in LOPD patients, but less so in IOPD patients. Early diagnosis and treatment of LOPD may translate into lysosomal glycogen clearance and prevention of further accumulation of cytoplasmic glycogen and cellular damage.
Myotonic dystrophy, or dystrophia myotonica (DM), is a highly variable multisystem disease in which the classic adult-onset form displays progressive muscle wasting, cataracts, heart block, gonadal ...atrophy, insulin resistance and neuropsychiatric impairment. Its genetic basis is an expansion of CTG trinucleotide repeats in the DMPK protein kinase gene. Among the triplet repeat expansion disorders, DM is distinguished by the extended length of the repeat tract (5-13 kb in postmortem tissue) and its location in the 3' untranslated region of the gene that contains it. The pathophysiological mechanism for multisystem degeneration in DM is not understood. In contrast to the profound muscle wasting that characterizes advanced DM, only minor histopathological abnormalities have occurred in DMPK knockout mice or in mice that overexpress a human DMPK transgene, making it unlikely that changes in DMPK activity provide a unitary explanation for the disease. A DNAse hypersensitive site that maps 0.7 kb downstream (centromeric) from the CTG repeats is eliminated on DM chromosomes. This finding indicates that the repeat expansion may alter the adjacent chromatin structure and raises the possibility that it may also affect the expression of flanking genes. An interesting candidate flanking gene is DMAHP, a recently discovered homeodomain-encoding gene. We show here that DMAHP expression in myoblasts, muscle and myocardium is reduced by the DM mutation is cis, and the magnitude of this effect depends on the extent of CTG repeat expansion. These observations support the hypothesis that DMAHP participates in the pathophysiology of DM.
Pseudobulbar affect (PBA) may occur in association with a variety of neurological diseases, and so may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar ...disorders, multiple sclerosis, traumatic brain injury, Alzheimer's disease, stroke, and brain tumors. The psychological consequences and the impact on social interactions may be substantial. Although it is most commonly misidentified as a mood disorder, particularly depression or a bipolar disorder, there are characteristic features that can be recognized clinically or assessed by validated scales, resulting in accurate identification of PBA, and thus permitting proper management and treatment. Mechanistically, PBA is a disinhibition syndrome in which pathways involving serotonin and glutamate are disrupted. This knowledge has permitted effective treatment for many years with antidepressants, particularly tricyclic antidepressants and selective serotonin reuptake inhibitors. A recent therapeutic breakthrough occurred with the approval by the Food and Drug Administration of a dextromethorphan/quinidine combination as being safe and effective for treatment of PBA. Side effect profiles and contraindications differ for the various treatment options, and the clinician must be familiar with these when choosing the best therapy for an individual, particularly elderly patients and those with multiple comorbidities and concomitant medications.
Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disorder that is inevitably fatal. There are no effective treatments to stop or reverse the natural course of the disease. The role ...of the physician is to provide comfort and optimize quality of life.
Management of patients with ALS is a process extending over months to years. It begins with breaking the news of the diagnosis and extends through the terminal phase. Medication may extend lifespan by a small amount. However, most efforts are centered around symptom management. Areas of importance include respiration, nutrition, secretions, communication, pseudobulbar affect, therapy and exercise, spasticity and cramps, pain, depression and suicide, spirituality and religion, cognitive changes, the development of advance directives, and care at the end of life. Multidisciplinary ALS clinics provide much-needed support for patients with ALS and their caregivers.
Although physicians cannot cure ALS or even halt progression, there is much that can be done to manage the physical and emotional symptoms, thereby maintaining or enhancing quality of life.
A growing body of research has shown that women express stronger attraction to more masculine traits when they are tested near ovulation than when tested during other times in the menstrual cycle. ...Although these effects have been interpreted as increased preferences for markers of elevated testosterone during times in the cycle when conception is most likely, no previous studies have directly demonstrated that women express stronger attraction to higher testosterone men at different times in the cycle. In addition, little research has addressed which hormonal or other physiological mechanisms may regulate temporal shifts in women's attractiveness judgments. In this research, we demonstrate that women with higher estradiol concentrations exhibit stronger preferences for the faces of men with higher testosterone concentrations, and that women's testosterone preference and estradiol curves track one another across days of the cycle. The findings are the first direct demonstration in humans that hormone concentrations in one sex are associated with attraction to cues of hormonal status in the opposite sex. The results support a functional role for estradiol in calibrating women's mating psychology to indices of their current fertility, analogous to similar processes that have been documented in nonhuman species. A strong correlation between estradiol and testosterone preference specifically during the luteal phase further suggests that women's mate preferences may track their fertility between different cycles in addition to being calibrated to the timing of ovulation within individual cycles.
Abstract There is a wide range of congenital renal anomalies that can present in adulthood. These include unilateral agenesis, ectopia, as well as malrotation and fusion anomalies. These may have ...clinically relevant associated anomalies. Alternatively, these may present due to related sequela of urinary stasis or malposition. We will discuss the imaging findings of a spectrum of congenital renal anomalies presenting in adults.
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