Publications by authors named "M Warde"
Cultured brain cells are used conventionally to investigate fundamental neurobiology and identify therapeutic targets against neural diseases. However, standard culture conditions do not simulate the natural cell microenvironment, thus hampering in vivo translational insight. Major weaknesses include atmospheric (21%) O tension and lack of intercellular communication, the two factors likely impacting metabolism and signaling.
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- There is a significant lack of data on the prevalence and clinical differences between obstructive sleep apnea (OSA), central sleep apnea (CSA), and their co-existence (CSA-OSA), particularly due to issues with scoring hypopneas in sleep labs.
- A study of over 2,400 patients showed that correctly distinguishing between central and obstructive hypopneas significantly changes the perceived prevalence of CSA, highlighting its under-recognition when not properly classified.
- Patients with CSA and co-existing CSA-OSA demonstrated the most severe comorbidities and sleep disturbances, suggesting tailored therapeutic approaches based on the specific type of sleep apnea are crucial for effective treatment.
Introduction: Sudden Unexplained Death in Childhood (SUDC) needs to be fully assessed considering its impact on the family, parents and siblings. Inborn Errors of Metabolism (IEM) such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) should be taken into consideration when SUDC occurres. Our aim is to present a family with two successive SUDC and to discuss the post-mortem genetics investigations revealing an IEM implication.
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- Infantile striatonigral degeneration is linked to a specific genetic mutation (homozygous variant in NUP62) affecting nuclear-pore complex function, which plays a key role in cellular transport.
- Researchers found similar mutations in another gene, NUP54, in three unrelated patients showing symptoms consistent with NUP62-related diseases, such as early-onset dystonia and striatal lesions.
- Additional studies confirmed that these variants are pathogenic, highlighting a broader range of dystonic conditions associated with nuclear-pore complex abnormalities.