Cureus最新文献

Chronic progressive external ophthalmoplegia (CPEO) is a rare mitochondrial disorder characterized by bilateral, slowly progressive ptosis and paralysis of the extraocular muscles. We present the case of a 61-year-old female with a 36-year history of bilateral ptosis and limited eye movements without diplopia. No family history of CPEO or other mitochondrial disorders was reported. To the best of our knowledge, this is the first documented case of CPEO in Trinidad and Tobago.

Metabolic-dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease in the Western world. MASLD-associated cirrhosis prevalence is on the rise along with the obesity and metabolic syndrome epidemic. Genetic factors are included in the multi-hit model of MASLD pathogenesis and insulin-like growth factor-1 (IGF-1) has an important role.  We report the case of a man who was referred to a hepatology clinic due to elevated liver enzymes as probable drug-induced liver injury (DILI). A 35-year-old man was diagnosed with compensated cirrhosis with an estimated Child-Pugh score of 5 points (Class A) and underwent further investigation of the causative factor. MASLD-cirrhosis was the preliminary diagnosis, but high serum and urine copper levels needed further investigation. Whole-genome sequencing revealed heterozygosity for a rare variant of the IGF-1 receptor, a metabolic factor whose role is crucial in the GH/IGF-1 axis to fatty liver and cirrhosis. MASLD diagnosis is really challenging, especially at the progressive stages of fibrosis. Clinical features, somatometric parameters, laboratory tests and liver biopsy guide us to establish the diagnosis. Despite all these findings, the heterogeneity of disease's pathogenesis through metabolic pathways underlines the need for deeper investigation, especially genetic factors such as IGF-1 and their penetration in disease progression and liver fibrosis.

Munchausen syndrome (MS), a complex form of factitious disorder (FD), presents significant diagnostic and management challenges in emergency and hospital settings. Patients deliberately fabricate or induce symptoms to gain medical attention, often leading to unnecessary interventions, resource misallocation, and iatrogenic harm. This study highlights the diagnostic complexity and the need for multidisciplinary management of Munchausen syndrome through a detailed case report and literature review. A 30-year-old woman presented with neurological symptoms mimicking Guillain-Barré syndrome (GBS), including quadriplegia and sensory deficits. Inconsistencies during physical examination and falsified imaging reports prompted further investigation, uncovering a history of fabricated symptoms and pathological lying. The psychiatric evaluation confirmed the diagnosis of Munchausen syndrome. Differentiating Munchausen syndrome from malingering, conversion disorder, and somatic symptom disorders requires meticulous evaluation and interdepartmental collaboration. Unlike malingering, Munchausen syndrome lacks external incentives, with psychological factors such as trauma and personality disorders playing a central role. Early recognition is essential to prevent unnecessary procedures, reduce costs, and avoid prolonged hospitalizations. This case underscores the need for clinical vigilance and a systematic approach to diagnosis. A multidisciplinary strategy involving psychiatry and other specialties is vital for effective management and improved patient outcomes.

This systematic review evaluates the long-term effectiveness of scleral lenses in improving visual outcomes, patient satisfaction, and safety in patients with keratoconus. A systematic search of six databases (PubMed, Embase, Web of Science, Scopus, Cochrane Library, and MEDLINE) was performed following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The inclusion criteria included studies with more than or equal to three months of follow-up, included a minimum of 20 keratoconus patients, published after year 2020 and outcomes reporting visual acuity, comfort or quality of life. Methodological quality was assessed using the Newcastle-Ottawa Scale and Murad et al. case series tool. Five studies (463 eyes) met the inclusion criteria. Scleral lenses consistently improved best-corrected visual acuity (BCVA) across studies, with visual gains from baseline logMAR 0.50-0.53 to post-treatment logMAR 0.08-0.09. Significant improvements in vision-related quality of life (National Eye Institute Visual Function Questionnaire (NEI-VFQ) scores) were observed in validated assessments. Complications were infrequently reported but included lens handling issues (10.4%-63%), fogging (58%), and physiological events (e.g., corneal epitheliopathy). Long-term follow-up indicated that 14.6% of the patients experienced worsening visual acuity due to keratoconus progression. Methodological quality was variable, with limitations including variable outcome reporting and limited follow-up duration.  Scleral lenses provide substantial and sustained improvements in visual acuity and quality of life for keratoconus patients, particularly those with advanced disease. However, the evidence is limited by methodological shortcomings and a lack of long-term controlled studies. Future research should prioritise randomised trials with standardised reporting and longer follow-up to better assess complications and durability of outcomes.

Epithelioid haemangioendothelioma (EHE) is a rare vascular neoplasm characterised by proliferation of vascular endothelial and pre-endothelial cells. The prevalence is less than one in a million people. It is principally observed in the soft tissues of the extremities but can also occur in the bone, brain, liver, lung and lymph nodes. EHE in the head and neck region is very rare. The most common site of occurrence in the head and neck is the submandibular region. To the best of our knowledge, there are only four cases of EHE reported in the orbit. We herein present the unusual case of a 22-year-old female patient with an EHE of the lateral wall of the right orbit and describe the clinical findings, histopathology, differential diagnoses and treatment. EHEs exhibit the potential for malignancy and recurrence, but metastasis remains rare. Due to its noticeable potential for malignancy and recurrence, complete excision and regular long-term follow-up would be the appropriate treatment protocol.

Introduction Laparoscopic simulation has been used in many curricula. The United Kingdom (UK) surgical curriculum lacks summative assessment for laparoscopic skills. This study explores surgical trainees' perceptions of using simulated laparoscopic assessment as a summative tool in the UK. Methodology This was a semi-structured interview study conducted in person for 10 higher surgical trainees recruited voluntarily in the northern region of England. A thematic analysis was used to analyse the data. Results The findings generally showed positive perceptions among the trainees for simulated laparoscopic assessment. The trainees highlighted that the current assessments are formative and often subjective. Trainees suggested introducing summative assessment might fit with current changes in the national curriculum. The interviews also showed that simulated laparoscopic assessment would positively affect the trainees, curriculum, and patients. In addition, trainees expressed that the introduction of such a change should be staged and tailored to the training grade. However, the majority did not support making it part of CCT requirements. The trainees emphasised that implementing such a change can face challenges such as cost, tension between training and service provision, and culture change. The practicality of introducing simulated laparoscopic assessment was discussed in terms of skills to be assessed, fidelity, and progression signposting. Conclusion The study highlighted the trainees' perceptions about simulated laparoscopic assessment, which was generally positive, and raised issues regarding challenges in its implementation. Further discussion in surgical societies is required and in-depth research is needed before implementating simulated laparoscopic assessment for trainee certification.

Background Sexual dysfunction is highly prevalent. The Loyola University Medical Center Sexual Wellness Program (LU-SWP), a multidisciplinary program, uses a biopsychosocial and educational model to collaborate with patients in their treatment. Objective This study aims to examine the reported satisfaction scores for the LU-SWP and its activities based on a patient survey completed at the end of the program. Patient involvement Patients of the LU-SWP completed surveys gauging their opinions on presentations given and techniques used during the 6-week program. These surveys aided in program adjustments that increased patient-centeredness. Methods It is a retrospective assessment of patient satisfaction scores of the LU-SWP from 2014 to 2020. Results Eighty-five of the 90 participants completed the survey, giving a 94% response rate. The mean age of the participants in this program was 49.8 years (SD = 13.768). The mean program satisfaction score was 8.51 (SD = ±1.43). Conclusions Because of this study, patient satisfaction scores aided in updating aspects of the LU-SWP. The scores give patients a voice in their care and allow previous patients to act as advocates for future patients.

Tumid lupus erythematosus (TLE) is a rare subtype of cutaneous lupus, which can present diagnostic challenges due to its overlapping features with other skin disorders. Understanding the clinical and histopathological characteristics of TLE is essential for accurate diagnosis and management. In this article, we describe a case of TLE in a 45-year-old man who presented with annular, urticarial, non-scarring plaques on the scalp associated with non-scarring alopecia in the affected area. The patient had a long history of scalp lesions with intermittent resolution and no associated systemic symptoms. On examination, the patient had erythematous, edematous, non-scaly plaques on the occipital and temporal scalp regions, and hair loss was observed in these areas, consistent with non-scarring alopecia. Dermoscopy revealed arborizing blood vessels on a background of erythema, with no scaling, atrophy, or follicular plugging. A skin biopsy confirmed the diagnosis, revealing the characteristic periadnexal and perivascular lymphocytic infiltrates with dermal mucin and edema. Laboratory tests showed a decreased C4 complement level, though other autoimmune markers were within normal limits. The patient showed no systemic symptoms or other signs of systemic lupus erythematosus (SLE). The patient was treated with topical clobetasol dipropionate 0.05% ointment, which resulted in rapid improvement of the lesions. This case underscores the need to include TLE in the differential diagnosis when evaluating annular scalp lesions with associated non-scarring alopecia and emphasizes the critical role of histopathological examination in confirming the diagnosis.

High-sensitivity cardiac troponins are considered a gold standard for diagnosing acute myocardial infarction and myocardial injury. However, the occurrence of false positives needs to be kept in mind.  We describe the clinical challenges in diagnosing a 45-year-old woman who repeatedly presented to the emergency department with atypical chest pain and extremely elevated high sensitivity troponin I (HsTnI), despite normal imaging including cardiac MRIs and invasive coronary angiograms, on multiple occasions.  This report emphasizes the importance of carefully interpreting elevated troponin levels, especially when clinical findings and further investigations do not support a cardiac origin for troponin (Tn) elevation.

Actinomycosis is a chronic, granulomatous infection caused by Actinomyces species, a group of anaerobic, gram-positive bacteria commonly found in the human oral cavity, gastrointestinal, and female genital tracts. Although it predominantly affects the cervicofacial region, rare manifestations such as gallbladder actinomycosis can occur. This report presents a case of gallbladder actinomycosis in a 61-year-old man who presented with a two-week history of right upper quadrant pain, jaundice, nausea, and vomiting. Imaging revealed biliary obstruction with common bile duct stones, leading to endoscopic retrograde cholangiopancreatography and subsequent laparoscopic cholecystectomy. Histopathological examination identified Actinomyces species, confirmed by Gram, PAS, and Grocott staining. While prolonged antibiotic therapy is the cornerstone of treatment, localized infections with complete surgical excision may not necessitate extended antibiotic use, as highlighted in this case.