![]() ![]() Certain types of genetic abnormalities such as inversions, rearrangements, polyploidy and epigenetic effects are not covered by this test. In cases where two variants are identified in a gene, the test does not distinguish whether these are on one chromosome (in cis) or on different chromosomes (in trans). Certain sequence changes (SNVs and INDELS) in non-coding regions of selected genes that are of clinical significance are also included in the analysis. Unless otherwise noted, sequence changes (SNVs and INDELS) in the promoter and other non-coding regions are not covered by this assay. Variants that fall outside of the targeted regions are not intended to be detected by this assay. The test aims to detect all variants relevant to the genes listed above by targeting all coding exons, of MANE or/and Canonical transcripts, and 12 bp of adjacent intronic sequence. Her book, ‘ Notes on Matters Affecting the Health, Efficiency and Hospital Administration of the British Army’, based on her experiences in Crimea, proposed reforms for other military hospitals and sparked a restructure of the War Office’s administrative department.įH, PH and RAS Kit analyzes 11, 11 and 30 genes and covers Familial Hypercholesterolemia (FH), Pulmonary Hypertension (PH) and RASopathy (RAS) related disorders, respectively.ĪBCA1, ABCG5, ABCG8, APOA5, APOB, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9ĪCVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4ĪKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP She also improved the quality of the patients’ stay in the hospital by providing special dietary requirements, establishing a laundry and a library. Through improving the horrid, unsanitary conditions that led numerous soldiers dying more from infectious diseases such as cholera, typhoid and dysentery, rather than battle injuries, Nightingale reduced the hospital’s death rate by two-thirds. Nightingale organized and oversaw the nursing of wounded soldiers during the Crimean war. Her improving of the hygiene practices significantly lowered the death rate at the hospital. During her work in London in the 1850s, she worked through a cholera outbreak, where she noticed that unsanitary conditions contributed to the rapid spread of the disease. ![]() Florence Nightingale’s contribution to nursingįlorence Nightingale pursued nursing academically, which she considered to be her calling, despite her family forbidding her to do so and the social expectations of the Victorian Era. ![]()
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