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Adults with longstanding, untreated GHD have multiple somatic impairments, including altered blood biochemistry, metabolism, body composition, and muscular and aerobic performance.
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The prevalence of multiple somatic symptoms is high in primary and hospital outpatient populations.
Large-scale genomic studies have identified multiple somatic aberrations in breast cancer, including copy number alterations and point mutations.
Pediatric osteosarcoma is characterized by multiple somatic chromosomal lesions, including structural variations (SVs) and copy number alterations (CNAs).
In the meantime, patients with chronic, multiple somatic symptoms who are still waiting for a diagnosis would be vulnerable to misdiagnosis as psychiatrically ill.
A principle difference exists between single vs. multiple somatic alleles.
Although their disease has features shared with single somatic allele patients, most notably the preferential enrichment of somatic alleles in memory T cells [9], [10], other important features of their phenotype are specific to multiple somatic alleles.
A recent publication reports on another WAS patient with multiple somatic alleles [30], and thus, the brothers described here are the second and third reported cases of multiple somatic alleles in WAS.
Thus, a finding of multiple somatic alleles in a single individual serves to "flag" an inherited allele harboring unique information.
In contrast, the presence of multiple somatic alleles in an individual patient indicates that a more deterministic process is occurring.
WASP mRNA in the patients' T cells had varying size, indicating that multiple somatic alleles are indeed expressed.
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CEO of Professional Science Editing for Scientists @ prosciediting.com