Purpose: Since ptosis is an early feature of chronic progressive external ophthalmoplegia (CPEO), patients are commonly misdiagnosed with other causes of ptosis. This study aims to report the type and frequency of misdiagnosis and time lag to diagnosis and the palpebral fissure transfer (PFT) procedure in patients with CPEO.
Methods: This is a retrospective analysis of consecutive patients with CPEO who underwent PFT between 2006 and 2017. The data on previous diagnoses and treatments, age at definitive diagnosis of CPEO, and clinical manifestations were recorded. While the diagnosis of CPEO was based on clinical examination, 75% (24/32) of patients had undergone a confirmatory muscle biopsy and genetic tests.
Results: There were 32 patients (19 females) with a mean age of 24.8 years (range, 13-36) at the final diagnosis and 34.1 years (range, 15-56) at the time of PFT. Also, 78% (25/32) of patients had been initially misdiagnosed with congenital ptosis (60%; 15/25) and ocular myasthenia gravis (OMG) (40%; 10/25). The majority of patients (20/32) had one to three previous eyelid surgical procedures, of which 90% (18/20) were performed before the definitive diagnosis of CPEO. The mean time lag from the first surgical procedure to CPEO diagnosis and PFT was 6.2 and 14.7 years, respectively.
Conclusion: In a referral center, 78% of the patients with CPEO were initially misdiagnosed with congenital ptosis and OMG, and 56% of them underwent ptosis repair before the diagnosis. While the onset of the disease was in the first or second decades of life, diagnosis was delayed up to a mean age of 25 years. Reviewing early family photos and paying attention to other signs of CPEO could prevent misdiagnosis.
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http://dx.doi.org/10.18502/jovr.v19i3.13998 | DOI Listing |
Augment Altern Commun
December 2024
Department of Special Education, College of Education, King Saud University, Riyadh, Saudi Arabia.
Request training can produce highly repetitive requests unless the setting is organized to encourage request diversity, particularly for individuals who depend on speech-generating devices (SGDs). Previous studies have shown that request training utilizing a lag schedule and progressive-time delay led to an increase in variability among children diagnosed with autism spectrum disorder (ASD). The impact of lag schedules on augmented requesting remains to be seen.
View Article and Find Full Text PDFBMC Public Health
December 2024
Air Force Medical Center, Air Force Medical University, Beijing, 100142, China.
Background: There is a lack of data support and scientific validation of the Exemption Approach policy for responding to the COVID-19 pandemic, in terms of protecting the health of flight crews and meeting the requirements for passenger and cargo transportation in emergencies, in terms of its safety and the circumstances that contribute to pilots' symptoms of jet lag and the risk of fatigue.
Methods: To assess pilots' sleep issues related to jet lag symptoms and fatigue, this study evaluated an example of risk management for flight crews on flights across time zones during the COVID-19 pandemic. To evaluate the crew's sleep status, variations in sleep index changes between before and after the flights, variations in sleepiness levels, and data on sleep indexes recorded by ActiGraph bracelets were collected from 146 crew members before and after flights eastward or westward across time zones.
Health Place
December 2024
School of Public Health, Research Center for Medicine and Social Development, Innovation Center for Social Risk Governance in Health, Research Center for Public Health Security, Chongqing Medical University, No.61 Middle University Town Road, Shapingba District, Chongqing, 400016, China. Electronic address:
Background: Cardiovascular disease (CVD) is one of the leading causes of death globally. Yet, further research is required into the relationship between CVD and extreme environmental temperatures. This study aims to explore the association between the incidence of CVD and extreme temperatures, and also to identify susceptible subgroups within the population.
View Article and Find Full Text PDFUltrason Sonochem
December 2024
School of Energy and Power Engineering, Xi'an Jiaotong University, Xi'an 710049, China; MOE Key Laboratory of Cryogenic Technology and Equipment, Xi'an Jiaotong University, Xi'an 710049, China.
Cavitation plays a crucial role in the reliability of components in refrigeration systems. The properties of refrigerants change significantly with temperature, thereby amplifying the impact of thermodynamic effects. This study, based on the Large Eddy Simulation (LES) method and the Schnerr-Sauer (S-S) cavitation model, investigates the transient cavitating flow characteristics of the R134a refrigerant in a Venturi tube (VT).
View Article and Find Full Text PDFEur J Cancer
November 2024
University of Perugia, Unit of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy.
A unique collaboration of multi-disciplinary experts from the European Association of Dermato-Oncology (EADO), the European Dermatology Forum (EDF), and the European Organization of Research and Treatment of Cancer (EORTC) was formed to make recommendations on cutaneous melanoma diagnosis and treatment, based on systematic literature reviews and the experts' experience. Cutaneous melanomas are excised with one to two-centimeter safety margins. For a correct stage classification and treatment decision, a sentinel lymph node biopsy shall be offered in patients with tumor thickness ≥ 1.
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