ELIZA

return kwic search for patients with out of >500 occurrences
404916 occurrences (No.41 in the rank) during 5 years in the PubMed. [cache]

95) The patients with type I recessive congenital methemoglobinemia (RCM) presented with mild to severe cyanosis only whereas patients with type II RCM had cyanosis associated with severe neurological impairment.

--- ABSTRACT ---

PMID:24266649 DOI:10.1111/cge.12326

2015 Clinical genetics

* Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.

- We report the clinical features and molecular characterization of 23 patients with cyanosis due to NADH-cytochrome b5 reductase (NADH-CYB5R) deficiency from India. The patients with type I recessive congenital methemoglobinemia (RCM) presented with mild to severe cyanosis only whereas patients with type II RCM had cyanosis associated with severe neurological impairment. Thirteen mutations were identified which included 11 missense mutations causing single amino acid changes (p.Arg49Trp, p.Arg58Gln, p.Pro145Ser, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, p.Ala179Thr, p.Thr238Met, and p.Val253Met), one stop codon mutation (p.Trp236X) and one splice-site mutation (p.Gly76Ser). Seven of these mutations (p.Arg50Trp, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, and p.Thr238Met) were novel. Two mutations (p.Gly76Ser and p.Trp236X) were identified for the first time in the homozygous state globally causing type II RCM. We used the three-dimensional (3D) structure of human erythrocyte NADH-CYB5R to evaluate the protein structural context of the affected residues. Our data provides a rationale for the observed enzyme deficiency and contributes to a better understanding of the genotype-phenotype correlation in NADH-CYB5R deficiency.

--- ABSTRACT END ---

[
right
kwic]

[frequency of next (right) word to patients with]

(1)23 chronic	(21)3 AD	(41)2 CAD	(61)2 critical
(2)13 a	(22)3 AgP	(42)2 CKD	(62)2 diabetes,
(3)10 diabetes	(23)3 CTD	(43)2 CVD	(63)2 early
(4)9 acute	(24)3 an	(44)2 DIC	(64)2 equal
(5)8 severe	(25)3 cardiovascular	(45)2 LGV	(65)2 hard-to-heal
(6)6 cancer	(26)3 comorbid	(46)2 MFS	(66)2 higher
(7)6 congenital	(27)3 end-stage	(47)2 NE	(67)2 ischemic
(8)5 RA	(28)3 fibromyalgia	(48)2 NSTE-ACS	(68)2 lesions
(9)5 and	(29)3 heart	(49)2 SS	(69)2 limited
(10)5 hypertension	(30)3 known	(50)2 SSc	(70)2 moderate
(11)5 type	(31)3 nonvalvular	(51)2 ST-segment	(71)2 no
(12)4 STEMI	(32)3 osteoarthritis	(52)2 VLUs	(72)2 normal
(13)4 advanced	(33)3 ovarian	(53)2 VTE	(73)2 pressure
(14)4 breast	(34)3 poor	(54)2 angina	(74)2 prior
(15)4 dementia	(35)3 schizophrenia	(55)2 antiheparin/PF4	(75)2 refractory
(16)4 low	(36)3 sickle	(56)2 asthma	(76)2 sarcoidosis
(17)4 sepsis	(37)3 symptomatic	(57)2 atrial	(77)2 somatoform
(18)4 stable	(38)3 the	(58)2 central	(78)2 stroke
(19)4 this	(39)2 AHA	(59)2 clinical	(79)2 sudden
(20)4 venous	(40)2 BD	(60)2 coronary

add keyword

--- WordNet output for patients --- Overview of noun patient The noun patient has 2 senses (first 1 from tagged texts) 1. (73) patient -- (a person who requires medical care; "the number of emergency patients has grown rapidly") 2. affected role, patient role, patient -- (the semantic role of an entity that is not the agent but is directly involved in or affected by the happening denoted by the verb in the clause) --- WordNet end ---