Publications by authors named "W Marques"
Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic diagnosis remains scarce and inconsistent in middle-income countries such as Brazil.
View Article and Find Full Text PDFBackground: Central nervous system symptoms, such as cognitive dysfunction, have been reported in Hereditary Transthyretin Amyloidosis (ATTRv). However, there is a lack of neuroimaging studies investigating structural alterations in the brain related to cognition in ATTRv amyloidosis. This study aimed to investigate cognition and cortical morphology in a cohort of ATTRv patients.
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- Human genetics research has made a lot of progress in finding out what causes diseases over the last ten years, thanks to sharing data and working together.
- The GENESIS platform helps scientists who may not know a lot about bioinformatics to analyze genetics data and discover new disease genes.
- With over 20,000 datasets from rare disease patients, GENESIS has contributed to discovering more than 100 new genes and helped solve many cases for patients with rare diseases.
Article Synopsis
- Leprosy is a chronic infectious disease caused by the bacteria Mycobacterium leprae, which attacks peripheral nerves, making diagnosis and treatment challenging.
- A study involving 25 leprosy patients and 14 controls tested a new multisegmented nerve conduction study (NCS) method, targeting cooler body areas where the bacteria are likely to cause damage, to see if it could identify nerve issues better than standard methods.
- Results showed that the new method identified abnormalities in all leprosy patients, significantly outperforming the standard method by increasing detection sensitivity for various nerves, suggesting it offers a better diagnosis approach for leprosy neuropathy.
In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis.
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