Publications by authors named "E Berling"
Article Synopsis
- The study aimed to broaden the understanding of IMNEPD1, a rare genetic disorder, particularly in patients with neuropathy and pancreatic lipomatosis.
- Two elderly sisters showed severe neurological symptoms, including sensorimotor neuropathy, hearing loss, and respiratory issues, requiring wheelchairs and ventilation later in life.
- Genetic analysis revealed a likely pathogenic variant in both sisters, suggesting that testing for this gene is essential for patients with similar gastrointestinal and neurological issues.
Article Synopsis
- A lot of people have been using nitrous oxide (N O), which can cause muscle problems and make it hard to move.
- Researchers looked at 58 patients with nitrous oxide issues and compared them to 47 patients with a similar condition called Guillain-Barré syndrome (GBS).
- They found that checking vitamin B12 levels and looking for certain nerve signs can help doctors tell the difference between the two conditions quickly.
Article Synopsis
- CAV3 gene mutations, typically inherited in an autosomal dominant manner, lead to various skeletal muscle diseases, prominently characterized by exercise intolerance and high creatine kinase (CK) levels.
- A study of 23 patients showed that calf hypertrophy was present in 80% of cases, with most biopsies indicating abnormalities, though no clear pattern emerged among the results.
- Despite significant muscle involvement and mutations identified, the overall functional impact appears limited, indicating potential challenges in accurately diagnosing milder forms of the condition.
Gene therapy, i.e., any therapeutic approach involving the use of genetic material as a drug and more largely altering the transcription or translation of one or more genes, covers a wide range of innovative methods for treating diseases, including neurological disorders.
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