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1.
Cureus ; 16(1): e51990, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38344644

RESUMEN

Varicose veins are a common vascular condition known for causing discomfort and cosmetic concerns. This comprehensive narrative review delves into their anatomy, pathophysiology, and modern treatment options, with a focus on endovenous techniques and sclerotherapy. The review starts by emphasizing the intricate anatomy of lower extremity venous circulation, underlining the significance of both superficial and deep venous networks in venous return. It also addresses how changes in the venous wall, including valvular insufficiency, contribute to the development of varicose veins. Endovenous techniques like endovenous laser ablation (EVLA), radiofrequency ablation (RFA), and mechanochemical endovenous ablation (MOCA) are explored in detail. These minimally invasive procedures have revolutionized varicose vein treatment, offering high success rates and quicker recovery compared to traditional surgery. The review also highlights their efficacy and safety profiles, aiding clinicians in informed decision-making. Sclerotherapy, a vital modality for varicose veins, is thoroughly examined, covering both liquid and foam sclerotherapy. Foam sclerotherapy, in particular, is recognized for its improved outcomes. The review provides a comprehensive comparison of these treatment modalities, highlighting differences in technical success, recurrence rates, and cost-effectiveness. Patient preferences and satisfaction play a significant role in choosing the right treatment. Safety and potential complications associated with these treatments are explored, with a focus on minor issues and rare adverse events. This review also emphasizes the positive impact of varicose vein interventions on patients' quality of life.

2.
Cureus ; 15(10): e47281, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38021759

RESUMEN

Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. This comprehensive review delves into AS, covering its clinical manifestations, genetics, diagnosis, medical management, psychosocial considerations, and future research directions. AS presents with distinct features, including a brachycephalic skull, midface hypoplasia, and limb anomalies such as syndactyly. It follows an autosomal dominant inheritance pattern with mutations in the FGFR2 gene. Prenatal diagnosis is possible through advanced imaging techniques and molecular testing. The multidisciplinary approach to AS management involves surgical interventions, orthodontics, and psychological support. Although no curative treatment exists, early interventions can significantly improve function and aesthetics. The quality of life for AS patients is influenced by psychosocial factors, necessitating comprehensive support for both patients and their families. Future research directions include gene therapy, understanding cellular responses to FGFR2 mutations, and addressing genetic heterogeneity. Collaborative efforts are vital to advancing knowledge about AS and its genetic underpinnings. Overall, this review serves as a valuable resource for healthcare professionals, educators, and researchers, contributing to a deeper understanding of AS and facilitating advancements in diagnosis and treatment.

3.
Cureus ; 15(10): e47058, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38022314

RESUMEN

This comprehensive review delves into the intricate relationship between the gut microbiota and multiple sclerosis (MS), shedding light on the potential therapeutic avenues for this complex autoimmune disease. It emphasizes the multifactorial nature of MS, including genetic, environmental, and gender-related factors. Furthermore, the article highlights the emerging role of gut microbiota in MS pathophysiology, particularly in terms of gut dysbiosis, oxidative stress, and inflammasome activation within the gut-brain axis. This interplay raises intriguing questions about how the gut microbiota influences the onset and progression of MS. Environmental factors, such as diet and pollutants, add further layers of complexity to the connection between gut health and MS risk. This review also discusses promising therapeutic interventions, such as fecal microbiota transplantation, probiotics, dietary adjustments, and gut-derived metabolites that offer potential avenues for managing MS. It underscores the need for ongoing research to fully unravel the complexities of the role of the gut-brain axis in MS. Ultimately, this article provides a comprehensive exploration of the topic, offering hope for novel preventive and therapeutic strategies that could significantly improve the lives of individuals affected by this challenging autoimmune condition.

4.
Cureus ; 15(9): e44906, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37692180

RESUMEN

Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS. The syndrome's genetic cause is linked to mutations in the SLC2A10 gene, affecting collagen and elastin synthesis. Arterial tortuosity, a complex phenomenon, arises from factors such as vessel elongation, anatomic fixation, and vessel diameter. ATS is one of many conditions associated with arterial tortuosity, including Marfan syndrome and Loeys-Dietz syndrome. Recent studies highlight arterial tortuosity's potential as a prognostic indicator for adverse cardiovascular events. Management requires a multidisciplinary approach, and surveillance and prevention play key roles. Despite challenges, advancements in understanding ATS offer hope for targeted therapies and improved patient care.

5.
Cureus ; 14(9): e28741, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36072782

RESUMEN

Autoimmune Polyglandular Syndrome (APS) spans three types of autoimmune disorders, categorized as APS type 1, type 2, and type 3. APS type 1 (APS-1) is the rarest type of the three. Complications of APS-1 can affect the bones, joints, skin, nails, gonads, eyes, thyroid, and several internal organs. We report a case of APS-1 in a 16-year-old female patient, who presented with complaints of oral thrush, tingling and numbness in her peripheries, and rash with multiple patches on the whole body with an infection of the nails, all around the age of 11 years, progressively worsening with time. In the next two years, she developed a bilateral decrease in visual acuity and dryness of the eyes as well as seizures, which have previously been seen in APS-1 patients. Laboratory results revealed hypocalcemia and hypoparathyroidism, but normal morning cortisol. Her mucocutaneous candidiasis and hypoparathyroidism fulfilled the criteria required for diagnosing APS-1. Her case, however, was made unique by her respiratory manifestations of frequent respiratory tract infections, which started around the age of 15 years, with a high-resolution CT scan (HRCT) revealing bronchiectasis, not commonly found amongst APS-1 patients. She was prescribed antibiotics for her respiratory tract infection exacerbations, oral calcium, vitamin D supplements, oral fluconazole, as well as an extensive eye care regimen. We report this case to add to the knowledge of this rare disease and look at its usual as well as unusual manifestations.

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