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"She had always regarded my sexual imaginativeness as a sort of constitutional disease; she stood by me patiently, unobtrusively waiting for the fever to subside," Wells writes.
This report documents one such validation of WES/WGS for patients without a molecular diagnosis but suspected constitutional disease mutation(s), with attention to parameters that measure the reproducibility of the testing platform as well as the informatics pipeline.
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This was a combined cytogenetic and molecular laboratory, offering cytogenetic testing for prenatal, constitutional and cancer cases, array CGH analysis and molecular testing for several constitutional diseases and somatic cancer mutations.
It is speculated that S. mutans may be the cause of other constitutional diseases [ 64].
The postwar secular decline of the male:female ratio at birth is not an isolated phenomenon and parallels the decline of perinatal morbidity and mortality, congenital anomalies, and various constitutional diseases.
Another analysis found parallels between the postwar secular decline of the male:female ratio at birth and the decline of perinatal morbidity and mortality, congenital anomalies, and various constitutional diseases (Jongbloet et al. 2001).
In humans, a number of L1 elements are intact and active, and create novel insertions: in the germline causing polymorphism and constitutional genetic disease [ 1– 3]; in cancers [ 6– 14]; and probably also in non-cancerous somatic tissues (e.g. [ 4, 15]).
Sixty-five per cent of patients achieved CR, and a discriminant analysis showed that failure to attain CR was associated with advanced stage disease, constitutional symptoms, increasing patient age, a low serum albumin and the presence of bulk disease.
The SLE patients with GG genotype showed significantly higher frequencies and increased risk of constitutional manifestations at disease onset, photosensitivity, hematological disorders, and positivity of ANA and anti-dsDNA [ 27].
A diagnosis of TB should, however, be considered in those with signs of lung disease or constitutional symptoms lasting longer than two weeks.
It is notable that compared to children with microbiologically confirmed M. tuberculosis, those children from whom NTM were isolated were even more likely to display constitutional symptoms compatible with disease.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com