ELIZA

return kwic search for revealed out of >500 occurrences
324965 occurrences (No.62 in the rank) during 5 years in the PubMed. [no cache] 500 found

392) Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier.

--- ABSTRACT ---

PMID:23010537 DOI:10.1016/j.jmii.2012.07.004

2015 Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi

* X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

- Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case.

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[frequency of next (right) word to revealed]

(1)193 that	(9)4 five	(17)2 common	(25)2 new
(2)61 a	(10)4 high	(18)2 distinct	(26)2 numerous
(3)21 the	(11)3 statistically	(19)2 enhanced	(27)2 right
(4)14 no	(12)3 that,	(20)2 evidence	(28)2 severe
(5)13 an	(13)3 three	(21)2 four	(29)2 significantly
(6)13 significant	(14)3 two	(22)2 higher
(7)7 by	(15)2 null	(23)2 in
(8)5 multiple	(16)2 as	(24)2 moderate

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--- WordNet output for revealed --- Overview of verb reveal The verb reveal has 3 senses (first 2 from tagged texts) 1. (34) uncover, bring out, unveil, reveal -- (make visible; "Summer brings out bright clothes"; "He brings out the best in her") 2. (17) unwrap, disclose, let on, bring out, reveal, discover, expose, divulge, break, give away, let out -- (make known to the public information that was previously known only to a few people or that was meant to be kept a secret; "The auction house would not disclose the price at which the van Gogh had sold"; "The actress won't reveal how old she is"; "bring out the truth"; "he broke the news to her"; "unwrap the evidence in the murder case") 3. reveal -- (disclose directly or through prophets; "God rarely reveal his plans for Mankind") --- WordNet end ---