Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility. Owing to its nonspecific clinical manifestations, CPEO is often misdiagnosed as other conditions. Herein, we present the case of a 34-year-old woman who primarily presented with incomplete left eyelid closure and limited bilateral eye movements. During the 6-year disease course, she was diagnosed with myasthenia gravis and cranial polyneuritis. Finally, skeletal muscle tissue biopsy confirmed the diagnosis. Biopsy revealed pathological changes in mitochondrial myopathy. Furthermore, mitochondrial gene testing of the skeletal muscle revealed a single chrmM:8469-13447 deletion. In addition, we summarized the findings of 26 patients with CPEO/Kearns-Sayre syndrome who were misdiagnosed with other diseases owing to ocular symptoms. In conclusion, we reported a rare clinical case and emphasized the symptomatic diversity of CPEO. Furthermore, we provided a brief review of the diagnosis and differential diagnosis of the disease.
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http://dx.doi.org/10.3389/fneur.2023.1268053 | DOI Listing |
J Gen Fam Med
January 2025
Department of Primary Care and Medical Education, Institute of Medicine University of Tsukuba Ibaraki Japan.
Background: Chronic periodontal disease primarily causes tooth loss and oral frailty and is linked to chronic conditions such as diabetes mellitus. However, its progression and broader studies on chronic diseases have not been well explored. This study aimed to investigate this association using claims data.
View Article and Find Full Text PDFTheranostics
January 2025
Department of Nephrology, Jiangsu Province Hospital, The First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China.
Chronic kidney disease (CKD) is a global public health issue, with vascular calcification (VC) being a common and deadly complication. Despite its prevalence, the underlying mechanisms of VC remain unclear. In this study, we aimed to investigate whether and how Otubain-2 (OTUB2) contributes to VC.
View Article and Find Full Text PDFCureus
December 2024
Department of Critical Care Medicine, Citizens Specialty Hospital, Hyderabad, IND.
Background: Sepsis is a life-threatening condition arising from a dysregulated host response to infection leading to organ dysfunction. Traditional clinical signs are often unreliable for detecting sepsis, necessitating the exploration of more accurate biomarkers. Furthermore, currently, recommended screening scores perform poorly, necessitating more effective biomarkers to identify sepsis.
View Article and Find Full Text PDFCureus
December 2024
Family Medicine, Unidade de Saúde Familiar (USF) Vil'Alva, Unidade Local de Saúde do Médio Ave, Santo Tirso, PRT.
Introduction Home visits are a key component of primary care in Portugal, designed for patients unable to visit medical facilities. However, logistical constraints often lead to incomplete real-time clinical records, impacting care quality and safety. This study aimed to improve the quality of home visit records through structural interventions and a continuous quality improvement approach.
View Article and Find Full Text PDFJ Pharm Policy Pract
December 2024
College of Pharmacy and Health Sciences, Ajman University, Ajman, UAE.
Background: Chronic Kidney Disease (CKD) represents a significant worldwide health challenge, with far-reaching implications for both patients and healthcare systems. This study aimed to identify the incidence of CKD at stages 3-5, analyzed the impact of statin and other antihyperglycemic interventions, on the CKD progression in individuals with T2DM.
Methods: This was a single-center retrospective cohort study based on data derived from electronic medical records (EMR) of UAE populations with diabetes mellitus, registered at outpatient clinics at Tawam Hospital in Al Ain, UAE, between January 2011 and December 2021.
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