- Research Article
- 10.1016/j.jns.2025.125106
EEG findings of OIRDA in DDX3X syndrome: Case report
- Dec 01, 2025
- Journal of the Neurological Sciences
- William Baek + 1 more +1
Publications from 2021 to 2026
Showing 10 of 49 papers
EEG findings of OIRDA in DDX3X syndrome: Case report
Atopic dermatitis beyond the skin: Characterizing skin pain in the “Scars of Life” study
A core outcome set for research on masculinizing genital gender-affirming surgery: international consensus results from the GenderCOS project
SummaryBackgroundMasculinizing genital gender-affirming surgery (gGAS) for transgender and gender diverse people encompasses a complex, heterogenous, and modular set of procedures. To enable evidence-based decision-making or meta-analysis, a uniformity of outcome research is needed. Currently, this is hindered by non-standardized outcome reporting. This study aims to develop a core outcome set (COS) for research on masculinizing gGAS to address this issue.MethodsAn international, multidisciplinary study steering group was established, consisting of 16 professional experts (PE) and lived experience experts (LEE), to advise on and support the development of this COS. The steering group convened online on 16 June 2022, 28 September 2023, 2 May 2024, and 29 August 2024. Potential outcomes were identified through interviews and focus groups with LEE and a systematic literature review convened up to September 2023. LEE and PE were recruited globally via websites, social platforms, scientific meetings, patient organizations, and posters and invited to participate in three e-Delphi survey rounds. In the first round, participants rated each outcome's importance on a 5-point Likert scale and provided reasoning for their rating. In subsequent rounds, participants re-rated the outcomes using illustrative quotes and rankings based on prior ratings to refine consensus. Pre-defined criteria guided outcome inclusion and exclusion. A final online consensus meeting with LEE and PE finalized the COS.FindingsInitial outcome gathering identified 384 unique outcomes, of which 38 outcomes were selected for the e-Delphi survey rounds. Thirty-two LEE and 52 PE participants, most from Europe, the UK, and the USA, completed all three survey rounds (February, May, and July 2024). Final consensus was reached in September 2024 on including one clinical outcome, three adverse events, and six patient-reported outcomes in the COS for masculinizing gGAS. The core outcomes are sensibility in the neo-phallus, additional surgery, ability to achieve orgasm, sexual well-being, and satisfaction with neo-genital aesthetics. For urethral lengthening, additional core outcomes include neo-urethral fistula, stricture, and the ability to void while standing. For phalloplasty, additional outcomes are flap necrosis and donor site morbidity.InterpretationDeveloping a COS for masculinizing gGAS is a crucial step towards standardized outcome measurement and reporting in clinical research. Implementation could facilitate data comparison, meta-analysis and evidence-based guideline development, ultimately improving personalized surgical care.FundingNone received.
Read moreCould resistance training prevent or improve work-related musculoskeletal disorders among surgeons?
Studies have demonstrated the negative impact that work-related musculoskeletal disorders (WMSDs) have on surgeons. These are also likely to affect some allied healthcare professionals such as interventional radiologists. Problems from WMSDs include pain, diminished technical and cognitive performance, and work absence. These could contribute to burnout, to which surgeons are already vulnerable owing to other working practices such as shift patterns and long hours. WMSDs could negatively affect working performance, and lead to poorer surgical outcomes and patient care. Surgeons are at risk of WMSDs of the neck and back that result from fixed and damaging postures while operating. Some have reduced their operation numbers and working days as result of WMSDs. Theatre ergonomics (e.g. table positioning, operating stools and monitors), intraoperative breaks and stretching may improve WMSDs for some.Strength/resistance training (RT) may be used to prevent or mitigate WMSDs. RT can also enhance general health and concentration, and combat intraoperative fatigue. Low engagement times of moderate-intensity RT of 20 minutes, twice a week, improve neck and back pain from WMSDs. Moreover, RT has been shown to reduce all-cause mortality by up to 15%, increase bone density, improve proprioception and reduce the fear of movement due to pain. Alongside ergonomic improvement and stretching, we recommend RT as an activity to improve general health and WMSDs.
Read moreUsing the arts to work with refugees and displaced persons in times of crisis and war
Our global community is experiencing the highest numbers of internally displaced persons and refugees brought about by crises and war. Not since World War II have we seen such huge numbers of persons who have been separated from their families and communities and are without homes. The war in Ukraine alone, caused by Russia’s illegal invasion, has contributed to over 14 million refugees and displaced persons, of which, according to UNICEF, 4.6 million are children. This panel explored how the arts can contribute towards restoring common humanity and dignity to those in crisis. Practical examples of how the arts and arts therapies are being used with refugees and displaced persons across the globe were presented. Topics such as safety, space and place, peer support, and collaboration were revisited as these relate to resilience, wellness, and empowerment. Three major questions guided the presenters as they shared their experience in working with people in crisis: Why use the arts when working with refugees and displaced persons? How are the arts understood/perceived as they are being integrated in this field of work? How do we restore common dignity and humanity to persons living in crisis?
Read moreChapter 75 - Painful heels, and tired and clumsy feet: Poor biomechanics in the feet causing localized pain, poor gait, and fatigue when walking
Do national health insurance schemes guarantee financial risk protection in the drive towards Universal Health Coverage in West Africa? A systematic review of observational studies.
To facilitate the drive towards Universal Health Coverage (UHC) several countries in West Africa have adopted National Health Insurance (NHI) schemes to finance health services. However, safeguarding insured populations against catastrophic health expenditure (CHE) and impoverishment due to health spending still remains a challenge. This study aims to describe the extent of financial risk protection among households enrolled under NHI schemes in West Africa and summarize potential learnings. We conducted a systematic review following the PRISMA guidelines. We searched for observational studies published in English between 2005 and 2022 on the following databases: PubMed/Medline, Web of Science, CINAHL, Embase and Google Scholar. We assessed the study quality using the Joanna Briggs Institute (JBI) critical appraisal checklist. Two independent reviewers assessed the studies for inclusion, extracted data and conducted quality assessment. We presented our findings as thematic synthesis for qualitative data and Synthesis Without Meta-analysis (SWiM) for quantitative data. We published the study protocol in PROSPERO with ID CRD42022338574. Nine articles were eligible for inclusion, comprising eight cross-sectional studies and one retrospective cohort study published between 2011 and 2021 in Ghana (n = 8) and Nigeria (n = 1). While two-thirds of the studies reported a positive (protective) effect of NHI enrollment on CHE at different thresholds, almost all of the studies (n = 8) reported some proportion of insured households still encountered CHE with one-third reporting more than 50% incurring CHE. Although insured households seemed better protected against CHE and impoverishment compared to uninsured households, gaps in the current NHI design contributed to financial burden among insured populations. To enhance financial risk protection among insured households and advance the drive towards UHC, West African governments should consider investing more in NHI research, implementing nationwide compulsory NHI programmes and establishing multinational subregional collaborations to co-design sustainable context-specific NHI systems based on solidarity, equity and fair financial contribution.
Read moreUnlocking ultra-high-density seismic for CCUS applications by combining nimble nodes and agile source technologies
Abstract In the quest for denser, nimbler, and lower-cost seismic surveys, the industry is seeing a revolution in the miniaturization of seismic equipment, with autonomous nodes approaching the size of a geophone and sources becoming portable by crews on foot. This has created a paradigm shift in the way seismic is acquired in difficult terrains, making zero-environmental-footprint surveys a reality while reducing cost and health, safety, and environmental risk. The simplification of survey operation and the new entry price of seismic surveys unlocked by these technologies are already benefiting industries beyond oil and gas exploration. High trace density seismic has become accessible to industries playing a key role in the net-zero era, such as geothermal and carbon capture, utilization, and storage (CCUS), to which a good understanding of the subsurface geology is crucial to their success. We describe these benefits as observed during an ultra-high-density seismic survey acquired in June 2020 through a partnership between STRYDE, Explor, and Carbon Management Canada over the Containment and Monitoring Institute site. The smallest and lightest source and receiver equipment in the industry were used to achieve a trace density of 257 million traces/km2 over this test site dedicated to CCUS studies. We discuss the operational efficiency of the seismic acquisition, innovative techniques for data transfer and surveying, and preliminary results of the seismic data processing with a focus on the near-surface model and fast-track time migration.
Read moreText-message Reminders in Colorectal Cancer Screening (TRICCS): a randomised controlled trial
Background:We investigated the effectiveness of a text-message reminder to improve uptake of the English Bowel Cancer Screening programme in London.Methods:We performed a randomised controlled trial across 141 general practices in London. Eight thousand two hundred sixty-nine screening-eligible adults (aged 60–74 years) were randomised in a 1 : 1 ratio to receive either a text-message reminder (n=4134) or no text-message reminder (n=4135) if they had not returned their faecal occult blood test kit within 8 weeks of initial invitation. The primary outcome was the proportion of adults returning a test kit at the end of an 18-week screening episode (intention-to-treat analysis). A subgroup analysis was conducted for individuals receiving an invitation for the first time.Results:Uptake was 39.9% in the control group and 40.5% in the intervention group. Uptake did not differ significantly between groups for the whole study population of older adults (adjusted odds ratio (OR) 1.03, 95% confidence interval (CI) 0.94–1.12; P=0.56) but did vary between the groups for first-time invitees (uptake was 34.9% in the control and 40.5% in the intervention; adjusted OR 1.29, 95% CI 1.04–1.58; P=0.02).Conclusions:Although text-message reminders did not significantly increase uptake of the overall population, the improvement among first-time invitees is encouraging.
Read moreNarrow neovaginal width in a transgender patient due to short interramic distance
Vaginoplasty is one of the core procedures for transgender patients. A neovaginal cavity is created between the prostate and rectum. The width of the introitus is determined by the distance between the inferior pubic rami. A 32-year-old transgender patient underwent vaginoplasty. Surgery was uneventful. When starting the dilation regimen, insertion of the usual stent was impossible since the neovagina had restricted width. A CT scan of the pelvis showed that the interramic distance, at 3.0 cm below the lower border of bony structure of the symphysis pubis, was only 3.2 cm. If a transgender patient presents with short stature, a short interramic distance may be expected. Preoperative radiological imaging should be considered. Surgeons should be equipped with adequate-size stents for postoperative dilation regimen.
Read more