Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

2021 ◽  
Author(s):  
Morgan R. Sturgis ◽  
Kathryn E. Wrobel ◽  
Gianna N. Bosco ◽  
Carolyn H. Jones
Keyword(s):  
Quality Of Life ◽  
Symptom Severity ◽  
Clinical Presentation ◽  
Male Infant ◽  
Encephalocraniocutaneous Lipomatosis ◽  
Detection And Diagnosis ◽  
Early Detection And Diagnosis ◽  
Scalp Skin ◽  
Congenital Syndrome

AbstractHaberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

510 A Profile of Physical Performance Variables in an Out-Patient Adult Population with Narcolepsy

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A201-A201
Author(s):  
Ragy Tadrous ◽  
Julie Broderick ◽  
Niamh Murphy ◽  
Lisa Slattery ◽  
Gillian Quinn ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Physical Activity ◽  
Physical Performance ◽  
Symptom Severity ◽  
Health Related Quality ◽  
Cardiopulmonary Fitness ◽  
Performance Variables ◽  
Related Quality ◽  
Health Related

Abstract Introduction Narcolepsy can significantly impact the physical and mental wellbeing of people with narcolepsy, and has been associated with significant reductions in quality of life and physical performance. People with narcolepsy demonstrate many barriers to being physically fit and active, such as sleepiness and social isolation. Despite physical functioning and vitality being the most affected domains of health-related quality of life in this cohort, little is known about how physical performance variables are affected in people with narcolepsy. Methods This cross-sectional study profiled the physical performance of adults with narcolepsy attending the Narcolepsy Centre located in St. James’s Hospital. Participants underwent a physical performance test battery that investigated cardiopulmonary fitness, physical activity, muscle strength and endurance. Furthermore, health-related quality of life (HRQoL), symptom severity and sedentary behaviour was ascertained through self-report questionnaires. Results A total of 23 participants were recruited in this study. The majority of participants were female (n=13, 56.52%) and the mean age was 31.53 (± 13.17) years. Physical performance was generally found to be lower than age-and-gender matched normative values for cardiopulmonary fitness, physical activity and muscle strength and endurance. Participants’ completed 42.20 ± 21.41 minutes of moderate-vigorous physical activity daily as measured by actigraphy. Considerable sedentary behaviour was objectively measured in this sample (10.21 hours). Symptom severity was high as measured by the Epworth Sleepiness Scale and the Narcolepsy Severity Scale, and participants reported reduced quality of life when compared to general population norms (US, UK, France and Norway). Conclusion Markedly reduced physical performance was identified in this sample of people with narcolepsy, irrespective of participant age, gender and BMI. Future research should explore the role of exercise in improving the physical fitness in people with narcolepsy, and the influence of exercise on HRQoL and symptom severity in this cohort. Support (if any) This study was completed as part of Mr Ragy Tadrous’ Master of Science (MSc) degree in Trinity College Dublin. This degree was co-sponsored by the Physiotherapy Department in St. James’s Hospital, Dublin.

scholarly journals Long-COVID Syndrome? A Study on the Persistence of Neurological, Psychological and Physiological Symptoms

Healthcare ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 575
Author(s):  
Graziella Orrù ◽  
Davide Bertelloni ◽  
Francesca Diolaiuti ◽  
Federico Mucci ◽  
Mariagrazia Di Giuseppe ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Sleep Disturbances ◽  
Online Survey ◽  
Clinical Presentation ◽  
Demographic Data ◽  
Severity Index ◽  
Long Term Effects ◽  
Targeted Treatments ◽  
Euroqol 5D

Background: Emerging aspects of the Covid-19 clinical presentation are its long-term effects, which are characteristic of the so-called “long COVID”. The aim of the present study was to investigate the prevalence of physical, psychological, and sleep disturbances and the quality of life in the general population during the ongoing pandemic. Methods: This study, based on an online survey, collected demographic data, information related to COVID-19, sleep disturbances, and quality of life data from 507 individuals. The level of sleep disturbances and quality of life was assessed through the Insomnia Severity Index (ISI) and the EuroQol-5D (EQ-5D), respectively. Results: In total, 507 individuals (M = 91 and F = 416 women) completed the online survey. The main symptoms associated with “long COVID” were headache, fatigue, muscle aches/myalgia, articular pains, cognitive impairment, loss of concentration, and loss of smell. Additionally, the subjects showed significant levels of insomnia (p < 0.05) and an overall reduced quality of life (p < 0.05). Conclusions: The results of the study appear in line with recent publications, but uncertainty regarding the definition and specific features of “long COVID” remains. Further studies are needed in order to better define the clinical presentation of the “long COVID” condition and related targeted treatments.

Abstract 3024: Autogenic Training to Manage Chest pain in Women with Angina and Normal Coronary Arteries.

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Elizabeth A Asbury ◽  
Nasim Kanji ◽  
Edzard Ernst ◽  
Mahmoud Barbir ◽  
Peter Collins
Keyword(s):  
Quality Of Life ◽  
Symptom Severity ◽  
Syndrome X ◽  
Cardiac Syndrome X ◽  
Post Intervention ◽  
Health Functioning ◽  
Cardiac Syndrome ◽  
Symptom Diary

Background: Women with angina pectoris, a positive exercise ECG for myocardial ischaemia and angiographically smooth coronary arteries (Cardiac Syndrome X), suffer increased psychological morbidity, debilitating symptomology and a poor quality of life. Autogenic Training (AT), a hypnosis-based auto-suggestive relaxation technique improved anxiety and quality of life in patients with CHD, multiple sclerosis and breast cancer. An exploration of AT as a treatment for Syndrome X was therefore undertaken. Methods: Fifty three female Syndrome X patients (mean ± SD; 57.4 ± 8.0 yrs) were randomised to an 8-week group-based AT and symptom diary program or symptom diary only control. Weekly group AT sessions were supported by an individual home program. The Hospital Anxiety and Depression Scale (HADS) Spielberger State-Trait Anxiety Inventory (STAI) Cardiac Anxiety Questionnaire (CAQ) and the Ferrans & Powers Quality of Life Index (QLI) were completed pre- and post-intervention and at 8-week follow-up. Results : Post-intervention, AT patients had reduced symptom severity (2.08 ± 1.03 vs. 1.23 ± 1.36, p=0.02) and frequency (6.11 ± 3.17 vs. 1.66 ± 2.19, p<0.001) with improved severity (8.04 ± 10.08 vs. 1.66 ± 2.19, p<0.001) and a trend toward reduced symptom frequency (1.95 ± 1.19 vs. 1.23 ± 1.36, p=0.063) compared to controls. Following AT, improved QLI health functioning (17.80 ± 5.74 vs. 19.41 ± 5.19, p=0.04) and CAQ fear (1.53 ± 0.61 vs. 1.35 ± 0.56, p=0.02) were found, with improvements in QLI health functioning (17.80 ± 5.74 vs. 20.09 ± 5.47, p=0.01), CAQ fear (1.53 ± 0.61 vs. 1.30 ± 0.67, p=0.002) CAQ total (1.42 ± 0.54 vs. 1.29 ± 0.475, p=0.04), STAI trait anxiety (42.95 ± 11.19 vs. 38.68 ± 11.47, p=0.01) and QLI quality of life (20.67 ± 5.37 vs. 21.9 ± 4.89, p=0.02) at follow-up. Post-monitoring changes in HADS depression (5.1 ± 3.3 vs. 4.2 ± 3.2, p=0.01), total HADS (13.95 ± 6.84 vs. 12.22 ± 5.75, p=0.02), CAQ avoidance (1.51 ± 0.92 vs. 1.24 ± 0.89, p=0.03), attention (1.33 ± 0.78 vs. 1.16 ± 0.57. p=0.05) and CAQ total (1.39 ± 0.6 vs. 1.23 ± 0.52, p=0.01) were shown in the control group. None were maintained at follow-up. Conclusion : An 8-week AT program has been shown to improve symptom severity and frequency, psychological morbidity and quality of life in women with Cardiac Syndrome X.

Symptom severity and quality of life in patients with atrial fibrillation: Psychological function outweighs clinical predictors

2019 ◽  
Vol 279 ◽  
pp. 84-89 ◽  
Author(s):  
Tomos E. Walters ◽  
Kate Wick ◽  
Gabriel Tan ◽  
Megan Mearns ◽  
Stephen A. Joseph ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Atrial Fibrillation ◽  
Symptom Severity ◽  
Psychological Function ◽  
Clinical Predictors

scholarly journals Towards Tailored Patient’s Management Approach: Integrating the Modified 2010 ACR Criteria for Fibromyalgia in Multidimensional Patient Reported Outcome Measures Questionnaire

Arthritis ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Yasser El Miedany ◽  
Maha El Gaafary ◽  
Sally Youssef ◽  
Ihab Ahmed
Keyword(s):  
Quality Of Life ◽  
Outcome Measures ◽  
Symptom Severity ◽  
Severity Score ◽  
Functional Disability ◽  
Response To Therapy ◽  
Widespread Pain ◽  
Acr Criteria ◽  
Symptom Severity Score

Objectives. To assess the validity, reliability, and responsiveness to change of a patient self-reported questionnaire combining the Widespread Pain Index and the Symptom Severity Score as well as construct outcome measures and comorbidities assessment in fibromyalgia patients. Methods. The PROMs-FM was conceptualized based on frameworks used by the WHO Quality of Life tool and the PROMIS. Initially, cognitive interviews were conducted to identify item pool of questions. Item selection and reduction were achieved based on patients as well as an interdisciplinary group of specialists. Rasch and internal consistency reliability analyses were implemented. The questionnaire included the modified ACR criteria main items (Symptom Severity Score and Widespread Pain Index), in addition to assessment of functional disability, quality of life (QoL), review of the systems, and comorbidities. Every patient completed HAQ and EQ-5D questionnaires. Results. A total of 146 fibromyalgia patients completed the questionnaire. The PROMs-FM questionnaire was reliable as demonstrated by a high standardized alpha (0.886–0.982). Content construct assessment of the functional disability and QoL revealed significant correlation (p<0.01) with both HAQ and EQ-5D. Changes in functional disability and QoL showed significant (p<0.01) variation with diseases activity status in response to therapy. There was higher prevalence of autonomic symptoms, CVS risk, sexual dysfunction, and falling. Conclusions. The developed PROMs-FM questionnaire is a reliable and valid instrument for assessment of fibromyalgia patients. A phased treatment regimen depending on the severity of FMS as well as preferences and comorbidities of the patient is the best approach to tailored patient management.

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