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1.
Cureus ; 15(10): e46470, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37927689

RESUMO

Epilepsy, a neurological disorder characterized by recurrent seizures, has witnessed a remarkable transformation in its classification paradigm, driven by advances in clinical understanding, neuroimaging, and molecular genetics. This narrative review navigates the dynamic landscape of epilepsy classification, offering insights into recent developments, challenges, and the promising horizon. Historically, epilepsy classification relied heavily on clinical observations, categorizing seizures based on their phenomenology and presumed etiology. However, the field has profoundly shifted from a symptom-based approach to a more refined, multidimensional system. One pivotal aspect of this evolution is the integration of neuroimaging techniques, particularly magnetic resonance imaging (MRI) and functional imaging modalities. These tools have unveiled the intricate neural networks implicated in epilepsy, facilitating the identification of distinct brain abnormalities and the categorization of epilepsy subtypes based on structural and functional findings. Furthermore, the role of genetics has become increasingly prominent in epilepsy classification. Genetic discoveries have not only unraveled the molecular underpinnings of various epileptic syndromes but have also provided valuable diagnostic and prognostic insights. This narrative review delves into the expanding realm of genetic testing and its impact on tailoring treatment strategies to individual patients. As the classification landscape evolves, there are accompanying challenges. The narrative review underscores the transformative potential of artificial intelligence and machine learning in epilepsy classification. These technologies hold promise in automating the analysis of complex neuroimaging and genetic data, offering enhanced accuracy and efficiency in epilepsy diagnosis and classification. In conclusion, navigating the shifting landscape of epilepsy classification is a journey marked by progress, complexity, and the prospect of improved patient care. We are charting a course toward more precise diagnoses and tailored treatments by embracing advanced neuroimaging, genetics, and innovative technologies. As the field continues to evolve, collaborative efforts and a holistic understanding of epilepsy's diverse manifestations will be instrumental in harnessing the full potential of this dynamic landscape.

2.
Cureus ; 14(10): e29825, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36337815

RESUMO

Inflammatory bowel disease (IBD) is an autoimmune inflammatory disorder that affects the gastrointestinal system with an annual increase in incidence and prevalence worldwide. While the precise cause behind IBD remains obscured, certain genetic susceptibilities, in addition to environmental factors, may trigger the stimulation of the immunoinflammatory system against the gastrointestinal system, eventually resulting in IBD. Furthermore, certain medications have been proposed to increase the risk of developing IBD, such as isotretinoin. IBD has been reported during the post-marketing phase of isotretinoin. Subsequently, IBD development was added as a potential gastrointestinal adverse effect of isotretinoin. This review article aims to evaluate the possible association between isotretinoin exposure and the development of inflammatory bowel disease. We enrolled 32 relevant studies, including case reports, case-control, and cohort studies. The results were critically analyzed and reviewed by independent authors to answer the research question and achieve the primary endpoint.

3.
Cureus ; 14(9): e29618, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36312644

RESUMO

Wilson's disease (WD) is one of the most prevalent genetic conditions in the world. The average onset age ranges between 5 and 35 years. The prognosis tends to be worse if the diagnosis is delayed. Neurocognitive and psychological disorders are the most common extrahepatic manifestations of WD. Moreover, rapid eye movement (REM) sleep behavior disorder (RBD) is discovered to have a significant correlation with neurodegenerative disorders, particularly WD. Several synucleinopathies, including WD, have an early prodromal stage that manifests as RBD or sleep behavior disorder. We hereby present a case of a 14-year-old patient with borderline ceruloplasmin levels and REM sleep disorder as an early manifestation of WD. RBD may be considered one of the earliest manifestations of such disorders and a vital phase of the disease's onset, as the patient may be more responsive to treatment at this point.

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