Publications by authors named "C J Garrido"
Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling. Some NMDs have high levels of creatine phosphokinase (CK).
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- A school-aged boy presented with scoliosis, muscle weakness, hypotonia, and respiratory distress, leading to a genetic analysis that identified two variants in the MEGF10 gene, one of which was novel and potentially pathogenic.
- This case highlights the varied symptoms of early onset myopathy associated with the identified mutations, stressing the need for early genetic testing for better diagnosis and intervention.
- The report emphasizes that myopathy should be considered in children displaying severe scoliosis and respiratory issues, advocating for timely and comprehensive treatment options based on current understanding of the condition, EMARDD.
Article Synopsis
- Preterm birth (PTB) is a major cause of complications in newborns, and identifying women at risk for spontaneous preterm labor (PTL) is difficult due to the lack of reliable diagnostic tools.
- The study investigated the link between specific maternal lymphocyte subpopulations and the likelihood of giving birth within 7 days for women hospitalized with PTL between 24 and 34 weeks of pregnancy.
- Results indicated that higher levels of certain lymphocyte markers were associated with a higher likelihood of delivering soon, allowing for the potential identification of high-risk women and possibly reducing unnecessary hospital admissions and related healthcare costs if confirmed in future research.