AI Article Synopsis
- - Wilson disease is a rare genetic disorder that causes copper to build up in the liver and brain, mainly due to mutations in the ATP7B gene.
- - In children, this disorder primarily shows liver-related symptoms, while adults tend to experience neurological and psychiatric issues, along with other problems like kidney issues, joint disorders, and anemia.
- - The text discusses the diagnosis of Wilson disease in a 14-year-old girl and her sibling, prompted by their symptoms of anemia, liver failure, and low phosphate levels.
Article Abstract
Wilson disease is a rare inherited disorder of copper metabolism that affects liver and brain due to copper tissue accumulation. The mechanism involved is based on mutations of the ATP7B gene. Children have predominant hepatic manifestations while adult are more often diagnosed by neurological and psychiatric symptoms. However, others features are tubulopathy, articular disorders and hemolytic anemia. We report the diagnostic of Wilson disease in a 14 years old girl and her sibling after investigation of hemolytic anemia, hepatic insufficiency, and hypophosphatemia.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1684/abc.2020.1574 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pediatric Neuroimaging of Multiple Sclerosis and Neuroinflammatory Diseases.
Tomography
December 2024
Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Using a pediatric-focused lens, this review article briefly summarizes the presentation of several demyelinating and neuroinflammatory diseases using conventional magnetic resonance imaging (MRI) sequences, such as T1-weighted with and without an exogenous gadolinium-based contrast agent, T2-weighted, and fluid-attenuated inversion recovery (FLAIR). These conventional sequences exploit the intrinsic properties of tissue to provide a distinct signal contrast that is useful for evaluating disease features and monitoring treatment responses in patients by characterizing lesion involvement in the central nervous system and tracking temporal features with blood-brain barrier disruption. Illustrative examples are presented for pediatric-onset multiple sclerosis and neuroinflammatory diseases.
View Article and Find Full Text PDFChallenges in Implementing Comprehensive Precision Medicine Screening for Ovarian Cancer.
Curr Oncol
December 2024
Hudson Institute of Medical Research, Clayton 3168, Australia.
Precision medicine has revolutionised targeted cancer treatments; however, its implementation in ovarian cancer remains challenging. Diverse tumour biology and extensive heterogeneity in ovarian cancer can limit the translatability of genetic profiling and contribute to a lack of biomarkers of treatment response. This review addresses the barriers in precision medicine for ovarian cancer, including obtaining adequate and representative tissue samples for analysis, developing functional and standardised screening methods, and navigating data infrastructure and management.
View Article and Find Full Text PDFBrain Metastases in Gynaecologic Cancer: A Retrospective Cohort Study Evaluating Treatment Outcomes, Prognostic Factors, and Overall Survival.
Curr Oncol
November 2024
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
(1) Background: The objectives of this study were to assess survival of patients with a diagnosis of brain metastases secondary to gynaecologic malignancy and the impact of clinicopathological factors on prognosis in this population. (2) Methods: A retrospective cohort of patients with gynaecologic cancers diagnosed with brain metastases treated with radiation at a tertiary care centre from 1 January 2004 until 30 September 2023 was studied. Kaplan-Meier method and log-rank test were used to evaluate survival, and cox regression was used to identify significant predictive factors of survival.
View Article and Find Full Text PDFNeuroinflammatory pathways and potential therapeutic targets in neonatal post-hemorrhagic hydrocephalus.
Pediatr Res
December 2024
Department of Neurological Surgery, Ohio State University Medical Center, Columbus, OH, USA.
Background: Post-hemorrhagic hydrocephalus (PHH) is a severe complication in premature infants following intraventricular hemorrhage (IVH). It is characterized by abnormal cerebrospinal fluid (CSF) accumulation, disrupted CSF dynamics, and elevated intracranial pressure (ICP), leading to significant neurological impairments.
Objective: This review provides an overview of recent molecular insights into the pathophysiology of PHH and evaluates emerging therapeutic approaches aimed at addressing its underlying mechanisms.
Pythiosis in Dogs.
Vet Clin North Am Small Anim Pract
December 2024
Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, 736 Wilson Road, East Lansing, MI, USA. Electronic address:
Pythiosis is caused by the oomycete Pythium insidiosum. Within the United States, Pythiosis is most seen in the Southeast and Gulf Coast states, but it has an expanding distribution. Pythiosis is characterized by gastrointestinal or cutaneous lesions, and rarely these lesions are seen together.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!