scholarly journals A natural history study of X-linked myotubular myopathy

Neurology ◽  
2017 ◽  
Vol 89 (13) ◽  
pp. 1355-1364 ◽  
Author(s):  
Kimberly Amburgey ◽  
Etsuko Tsuchiya ◽  
Sabine de Chastonay ◽  
Michael Glueck ◽  
Rachel Alverez ◽  
...  
Keyword(s):  
Natural History ◽  
Online Survey ◽  
Neuromuscular Disorders ◽  
Cross Sectional Study ◽  
Disease Course ◽  
Cross Sectional ◽  
Myotubular Myopathy ◽  
Phone Survey ◽  
History Of ◽  
Infancy And Early Childhood

Objective:To define the natural history of X-linked myotubular myopathy (MTM).Methods:We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33).Results:We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 hours of support) dependence. However, unlike previous reports and despite the high burden of disease, mortality was lower than anticipated (approximate rate 10%/y). Seventy-six percent of patients with MTM enrolled (mean age 10 years 11 months) were alive at the end of the study. Nearly all deaths in the study were associated with respiratory failure. In addition, the disease course was more stable than expected, with few adverse events reported during the prospective survey. Few non–muscle-related morbidities were identified, although an unexpectedly high incidence of learning disability (43%) was noted. Conversely, MTM was associated with substantial burdens on patient and caregiver daily living, reflected by missed days of school and lost workdays.Conclusions:MTM is one of the most severe neuromuscular disorders, with affected individuals requiring extensive mechanical interventions for survival. However, among study participants, the disease course was more stable than predicted, with more individuals surviving infancy and early childhood. These data reflect the disease burden of MTM but offer hope in terms of future therapeutic intervention.

scholarly journals Natural history of chronic hepatitis B infection in Eritrean patients: a laboratory-based cross-sectional study

2021 ◽  
Author(s):  
Mohammed Elfatih Hamida ◽  
Saud Mohammed Raja ◽  
Yemane Seyoum ◽  
Isam Mohammed Elkhidir ◽  
Freweini Tekle
Keyword(s):  
Chronic Hepatitis ◽  
Natural History ◽  
Hepatitis B ◽  
Immune Escape ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Immune Control ◽  
Cross Sectional ◽  
Immune Clearance ◽  
History Of

Abstract Background Understanding the natural history of chronic hepatitis B (CHB) virus infection is important for determining optimal management and predicting prognosis in patients. The aim of this study was to determine the prevalence of different phases of CHB infection among Eritrean patients and to identify the proportion of patients eligible for treatment according to 2018 American Association for the Study of Liver Diseases (AASLD) guidelines.Methods This cross-sectional study enrolled 293 CHB patients between Jan 2017 and Feb 2019 and classified them into four groups, namely, immunotolerant, immune clearance, immune control, and immune escape, based on the results of Hepatitis B virus (HBV) serological panel (HBsAg, anti-HBc total, HBeAg and anti-HBe), ALT levels, and HBV DNA viral load.Results Our study cohort of 293 patients comprised 213 males and 80 females, with a mean age of 41.66 ± 13.84 years. Of these, 5 (1.7%) were at the immune tolerant phase, 46 (15.7%) at immune clearance, 217 (74.1%) at immune control, and 25 (8.5%) at immune escape phase; thus, 71 (24.2%) patients were eligible for treatment, i.e., patients in immune clearance and immune escape phases. As most subjects (93%) were HBeAg-negative, based on AASLD guidelines, only 5 (1.7%) were eligible for treatment, and these patients were part of the group of 71 patients eligible for treatment based on chronic HBV status.Conclusions Our data show that CHB patients in Eritrea were predominantly in the immune control phase. Although initiating antiviral therapy is not recommended in these patients, periodic assessment of liver function and disease severity should be considered in patients older than 40 years. The immunotolerant phase had the fewest patients, most of whom were above 20 years old, attesting to the success of incorporating HBV vaccine in the national childhood immunization program since 2002. Our study shows that adopting AASLD treatment guidelines with adjustments to suit the local setting represent a suitable option in the management of Eritrean CHB patients.

scholarly journals Factors associated with depression and anxiety in the adult population of Qatar after the first COVID-19 wave: a cross-sectional study

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Salma Mawfek Khaled ◽  
Iman Amro ◽  
Lina Bader ◽  
Peter Woodruff ◽  
Majid A. Alabdulla ◽  
...  
Keyword(s):  
Risk Factors ◽  
Online Survey ◽  
Adult Population ◽  
Depression Scale ◽  
Cross Sectional Study ◽  
Prior History ◽  
Depression And Anxiety ◽  
Cross Sectional ◽  
Factors Associated ◽  
History Of

AbstractThere is limited data from Arabic-speaking countries on risk factors for depression and anxiety during the COVID-19 pandemic. Country-specific data is necessary given differences in culture, demographics, and COVID-19 infection and mortality rates. The main purpose of the study is to identify the factors associated with symptoms of depression-anxiety in the adult population of Qatar during the first year of the COVID-19 pandemic. We conducted a cross-sectional online survey in Qatar between July and December 2020 after Qatar’s first COVID-19 wave and before the beginning of the second wave. Depression-anxiety was defined as a cut-off of 20 or higher on the Patient Health Questionnaire-Anxiety Depression Scale (PHQ-ADS). Of 1138 participants, 71.0% were female, 69.0% Arabs, 70.0% Non-Qataris, and 77.0% were < 40 years (the median age in Qatar is 32 years). In a fully-adjusted model, six variables were significantly associated with moderate-to-severe levels of depression or anxiety on the PHQ-ADS; Arab ethnicity (OR = 1.67, p = 0.026), never married versus married (OR = 1.69, p = 0.015), prior history of psychiatric disorder versus no history (OR = 1.80, p = 0.009), increased worries due to social media use for COVID-related news/updates (OR = 1.72, p = 0.003), a history of COVID-19 (OR = 1.76, p = 0.039), loneliness (OR = 1.91, p < 0.001), and lower levels of religiosity (OR = 0.96, p = 0.039). These associations also pertained in the reduced model, with the exception of religiosity which was only marginally statistically significant (OR = 0.97, p = 0.055). The potential risk factors identified may assist with anxiety and depression prevention in future COVID-19 waves, and similar national events, and assist with early intervention to treat sufferers.

scholarly journals Factors Affecting Willingness to Receive COVID-19 Vaccine Among Adults: A Cross-sectional Study in Bangladesh

2021 ◽  
pp. 097359842110506
Author(s):  
Abu-Hena Mostofa Kamal ◽  
Tonmoy Sarkar ◽  
Mohammed Moniruzzaman Khan ◽  
Sajal K. Roy ◽  
Sazzad Hossain Khan ◽  
...  
Keyword(s):  
Perceived Risk ◽  
Online Survey ◽  
Population Based ◽  
Cross Sectional Study ◽  
Motivating Factors ◽  
Cross Sectional ◽  
Factors Affecting ◽  
History Of ◽  
Perceived Impact ◽  
To Receive

The COVID-19 vaccine has been made available for emergency use in Bangladesh. However, willingness to receive the vaccine may be affected by varying factors across the country. Therefore, this study aimed to investigate the factors that influence willingness to receive the vaccine among Bangladeshi adults. A population-based cross-sectional online survey was conducted among a sample of 1,725 Bangladesh adults (age 18 years and older). The statistical analysis included univariate, bivariate and multivariate regression model. Findings show that 85% ( n = 1463) of respondents were willing to receive the vaccine. Respondents with 1–2 children (aOR: 1.77, 95% CI: 1.00–3.13, P = . 048), perceived risk of being infected (aOR: 1.48, 95% CI: 1.03–2.14, P = . 03), perceived impact on daily life (aOR: 2.53, 95%CI: 1.45–4.44, P = . 001), history of co-morbidities (aOR: 2.04, 95% CI: 1.37–3.04, P < . 01), price of the vaccine (aOR: 3.58, 95% CI: 2.34–5.47), physician’s recommendation to receive vaccine (aOR: 2.06, 95% CI: 1.38–3.06, P < . 01), vaccines supplied by government (aOR: 2.31, 95% CI: 1.64–3.25, P < . 01) were found to be motivating factors for willingness to receive the vaccine. Findings indicate that willingness to receive the vaccine is likely to be affected by socio-demographic, and health system factors. This should be carefully considered in the rollout of the vaccination plans in Bangladesh.

scholarly journals Is There a Neuropathic-Like Component to Endometriosis-Associated Pain? Results From a Large Cohort Questionnaire Study

2021 ◽  
Vol 2 ◽  
Author(s):  
Lydia Coxon ◽  
Katja Wiech ◽  
Katy Vincent
Keyword(s):  
Neuropathic Pain ◽  
Online Survey ◽  
Cross Sectional Study ◽  
Sensory Profile ◽  
Cross Sectional ◽  
Psychological Measures ◽  
Chronic Inflammatory Condition ◽  
History Of ◽  
New Perspective ◽  
Pain Symptoms

Background: Pain is one of the primary symptoms of endometriosis, a chronic inflammatory condition characterised by the presence of endometrial tissue outside the uterus. Endometriosis-associated pain is commonly considered as nociceptive in nature, but its clinical presentation suggests that it might have neuropathic-like properties in a subgroup of patients.Methods: This is a cross sectional study using an online survey. The survey was distributed by patient support websites. The survey was composed of validated questionnaires assessing pain symptoms, psychological measures and questions about number of surgeries.Main Results: We had 1,417 responses which met the inclusion criteria. Using standard painDETECT cut-off scores, we found that pain was classified as neuropathic in 40% of patients and as mixed neuropathic/nociceptive in a further 35%. In line with observations in other neuropathic conditions, the neuropathic subgroup reported higher pain intensities, greater psychological distress and cognitive impairment. Neuropathic pain was also more likely in those with more surgeries to the abdomen and a longer history of pain. As revealed by a cluster analysis, those with a neuropathic pain component could further be divided into two subgroups based on their sensory profile.Conclusions: The data presented here indicate that endometriosis-associated pain includes a neuropathic-like component in a substantial proportion of women. Although further investigation is required, our finding challenges the current conceptualisation of endometriosis-associated pain as nociceptive and advocates for a new perspective on this type of pain, which is so debilitating to a large number of women.

Ageing and the natural history of dry eye disease: A prospective registry-based cross-sectional study

2020 ◽  
Vol 18 (4) ◽  
pp. 736-741 ◽  
Author(s):  
Michael T.M. Wang ◽  
Alex Muntz ◽  
Joevy Lim ◽  
Ji Soo Kim ◽  
Lucas Lacerda ◽  
...  
Keyword(s):  
Natural History ◽  
Dry Eye ◽  
Cross Sectional Study ◽  
Dry Eye Disease ◽  
Eye Disease ◽  
Sectional Study ◽  
Cross Sectional ◽  
History Of

scholarly journals Is there a neuropathic-like component to endometriosis-associated pain? Results from a large cohort questionnaire study

2020 ◽  
Author(s):  
Lydia Coxon ◽  
Katja Wiech ◽  
Katy Vincent
Keyword(s):  
Neuropathic Pain ◽  
Online Survey ◽  
Cross Sectional Study ◽  
Sensory Profile ◽  
Cross Sectional ◽  
Psychological Measures ◽  
Chronic Inflammatory Condition ◽  
History Of ◽  
New Perspective ◽  
Pain Symptoms

AbstractBackgroundPain is one of the primary symptoms of endometriosis, a chronic inflammatory condition characterised by the presence of endometrial tissue outside the uterus. Endometriosis-associated pain is commonly considered as nociceptive in nature but its clinical presentation suggests that it might have neuropathic-like properties in a subgroup of patients.MethodsThis is a cross sectional study using an online survey. The survey was distributed by patient support websites. The survey was composed of validated questionnaires assessing pain symptoms, psychological measures and questions about number of surgeries.Main results and the role of chanceWe had 1417 responses which met the inclusion criteria. Using standard painDETECT cut-off scores, we found that pain was classified as neuropathic in 40% of patients and as mixed neuropathic/nociceptive in a further 35%. In line with observations in other neuropathic conditions, the neuropathic subgroup reported higher pain intensities, greater psychological distress and cognitive impairment. Neuropathic pain was also more likely in those with more surgeries to the abdomen and a longer history of pain. As revealed by a cluster analysis, those with a neuropathic pain component could further be divided into two subgroups based on their sensory profile.ConclusionsThe data presented here indicate that endometriosis-associated pain includes a neuropathic-like component in a substantial proportion of women. Although further investigation is required, our finding challenges the current conceptualisation of endometriosis-associated pain as nociceptive and advocates for a new perspective on this type of pain, which is so debilitating to a large number of women.

Pregnancy Reverses Abdominoplasty Aesthetic Outcome: Myth or Misconception? A Cross-Sectional Study

2021 ◽  
Author(s):  
Roni Averbuch Sagie ◽  
Itay Wiser ◽  
Lior Heller ◽  
Doron Klein ◽  
Eran Hadad
Keyword(s):  
Online Survey ◽  
Unplanned Pregnancy ◽  
Cross Sectional Study ◽  
Aesthetic Outcome ◽  
Maternal Complications ◽  
Cross Sectional ◽  
Fetal Complications ◽  
History Of ◽  
Gestational Week ◽  
Future Pregnancy

Abstract Background The common recommendation for female abdominoplasty candidates is to conclude family planning before undergoing the procedure. However, there is no evidence demonstrating correlation between aesthetic outcome compromise, risk for fetal complications or risk for maternal complications when abdominoplasty is followed by pregnancy. Objectives The aim of this study was to evaluate maternal, fetal, and aesthetic outcomes among pregnant females with a history of abdominoplasty. Methods We conducted an online survey among women who became pregnant after having an abdominoplasty. Participants were recruited via social media groups related to abdominoplasty. The survey included demographic, aesthetic outcome and pregnancy related questions. We used a score from 1 (no effect) to 10 (worst effect) to assess abdominal aesthetic outcome compromise. Results Thirty-two participants completed the online survey, 15 (46.8%) of which reported their pregnancy was unplanned. Pregnancy related findings included five (15.6%) late premature births (between gestational week 35 and 37), one miscarriage and one emergency C-section. Compromised aesthetic outcomes following pregnancy included new abdominal stretch marks (50%, N=16), widened abdominoplasty scar (28%, N=9), abdominal skin excess (37.5%, N=12) and abdominal bulge (25.8%, N=8). A new hernia was reported by two participants (6.3%). The average abdominal aesthetic severity score was 2.7 (range 1-8), and only three scores were above 5 (9.3%). Two women (6.2%) underwent abdominoplasty revision, and eighteen (56.2%) stated they would recommend others to undergo abdominoplasty before pregnancy (56.3%). Conclusions Our survey shows there is room to reevaluate whether future pregnancy should be considered a relative contraindication for undergoing abdominoplasty.

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