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1.
Sci Rep ; 13(1): 13805, 2023 08 23.
Artículo en Inglés | MEDLINE | ID: mdl-37612427

RESUMEN

Amyotrophic lateral sclerosis (ALS), the most prevalent motor neuron disease characterized by its complex genetic structure, lacks a single diagnostic test capable of providing a conclusive diagnosis. In order to demonstrate the potential for genetic diagnosis and shed light on the pathogenic role of miRNAs in ALS, we developed an ALS diagnostic rule by training the model using 80% of a miRNA profiling dataset consisting of 253 ALS samples and 103 control samples. Subsequently, we validated the diagnostic rule using the remaining 20% of unseen samples. The diagnostic rule we developed includes miR-205-5p, miR-206, miR-376a-5p, miR-412-5p, miR-3927-3p, miR-4701-3p, miR-6763-5p, and miR-6801-3p. Remarkably, the rule achieved an 82% true positive rate and a 73% true negative rate when predicting the unseen samples. Furthermore, the identified miRNAs target 21 genes in the PI3K-Akt pathway and 27 genes in the ALS pathway, including notable genes such as BCL2, NEFH, and OPTN. We propose that miRNA profiling may serve as a complementary diagnostic tool to supplement the clinical presentation and aid in the early recognition of ALS.


Asunto(s)
Esclerosis Amiotrófica Lateral , MicroARNs , Esclerosis Amiotrófica Lateral/diagnóstico , Humanos , MicroARNs/análisis , MicroARNs/genética , Perfilación de la Expresión Génica , Aprendizaje Automático
2.
Taiwan J Obstet Gynecol ; 48(2): 108-12, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19574168

RESUMEN

OBJECTIVE: Women of reproductive age are at risk of ruptured corpus luteum with hemoperitoneum. We identified the clinical and demographic features of patients recently treated in our institution and compared the findings with those from an earlier series, to detect any changes in disease identity that have occurred over the past 20 years. MATERIALS AND METHODS: Charts of patients treated between January 2001 and December 2003 at Changhua Christian Hospital were reviewed. Clinical parameters were compared with those from our previous study in the 1980s. RESULTS: A total of 91 women were diagnosed with ruptured corpus luteum and hemoperitoneum (mean age, 26 years; range, 15-42 years). Most ruptures (60.4%) occurred during the secretory phase and most women (57.1%) reported recent sexual intercourse prior to the onset of pain. Most patients (81.3%) required laparoscopic intervention to achieve hemostasis. No obvious differences were found between the results of this study and those from the 1985 series, except that our patients were younger, were more often unmarried, chose laparoscopic interventions rather than laparotomy, and that there was an emerging trend towards conservative treatment. CONCLUSION: The manifestations of corpus luteum hemorrhage in this study were similar to those observed in the 1980s at the same medical center. However, the demographic parameters (age, marital status) and the modalities of treatment (conservative treatment, mode of surgical interventions) had changed in line with the evolution of society, culture, and the progress of medical science over the past 20 years.


Asunto(s)
Cuerpo Lúteo/patología , Hemoperitoneo/epidemiología , Hemoperitoneo/patología , Enfermedades del Ovario/epidemiología , Enfermedades del Ovario/patología , Abdomen Agudo/epidemiología , Abdomen Agudo/patología , Adolescente , Adulto , Femenino , Humanos , Fase Luteínica , Estudios Retrospectivos , Factores de Riesgo , Rotura Espontánea , Adulto Joven
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