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18 results

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Page 1
Possible montelukast-induced angioedema.
Sabbagh R, Sheikh-Taha M. Sabbagh R, et al. Am J Health Syst Pharm. 2009 Oct 1;66(19):1705-6. doi: 10.2146/ajhp080408. Am J Health Syst Pharm. 2009. PMID: 19767375
Upon arrival at the ED, the patient had severe jaw tightness, facial numbness, uncontrollable cheek lifting, swollen eyes, and a swollen protruding tongue and was unable to catch her breath. Her dyspnea was apparent, and she was unable to talk and instead used hand …
Upon arrival at the ED, the patient had severe jaw tightness, facial numbness, uncontrollable cheek lifting, swollen eyes, and a swollen …
Otolaryngologic manifestations of Down syndrome.
Kanamori G, Witter M, Brown J, Williams-Smith L. Kanamori G, et al. Otolaryngol Clin North Am. 2000 Dec;33(6):1285-92. doi: 10.1016/s0030-6665(05)70281-4. Otolaryngol Clin North Am. 2000. PMID: 11449787 Review.
These anomalies include a flat occiput, oblique palpebral fissures, epicanthal folds, speckled irides, a protruding tongue, prominent malformed ears, and a flat nasal bridge. Congenital otologic anomalies and acquired conditions such as otitis media are also more fr …
These anomalies include a flat occiput, oblique palpebral fissures, epicanthal folds, speckled irides, a protruding tongue, pr …
Venous Invasion in Colorectal Cancer: Impact of Morphologic Findings on Detection Rate.
Hwang C, Lee S, Kim A, Kim YG, Ahn SJ, Park DY. Hwang C, et al. Cancer Res Treat. 2016 Oct;48(4):1222-1228. doi: 10.4143/crt.2015.429. Epub 2016 Feb 12. Cancer Res Treat. 2016. PMID: 26875194 Free PMC article.
RESULTS: Overall, the detection rate of VI was significantly increased as follows: 14/93 (15.1%) in the original pathology report, 38/93 (40.9%) in review of H&E slides with attention to the "protruding tongue" and "orphan arteriole" signs, and 45/93 (48.4%) usi …
RESULTS: Overall, the detection rate of VI was significantly increased as follows: 14/93 (15.1%) in the original pathology report, 38/93 (40 …
Human newborns match tongue protrusion of disembodied human and robotic mouths.
Soussignan R, Courtial A, Canet P, Danon-Apter G, Nadel J. Soussignan R, et al. Dev Sci. 2011 Mar;14(2):385-94. doi: 10.1111/j.1467-7687.2010.00984.x. Dev Sci. 2011. PMID: 22213907
Compared to a baseline condition, neonates increased significantly their tongue protrusion when seeing disembodied human and artificial tongue movements, but not when seeing a 2D full-face protruding tongue. This result was interpreted as revealing the exploration o …
Compared to a baseline condition, neonates increased significantly their tongue protrusion when seeing disembodied human and artificial tong …
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T. Le Guen T, et al. Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Neurogenetics. 2011. PMID: 20734096 Review.
He presented the association of postnatal microcephaly, severe axial dystonia with severe feeding difficulties with protruding tongue movements during the first year of life that subsequently evolved into dyskinetic movement disorders with hand stereotypies. ...Alto …
He presented the association of postnatal microcephaly, severe axial dystonia with severe feeding difficulties with protruding ton …
Accuracy of the clinical diagnosis of Down syndrome.
Devlin L, Morrison PJ. Devlin L, et al. Ulster Med J. 2004 May;73(1):4-12. Ulster Med J. 2004. PMID: 15244118 Free PMC article.
Simian crease, sandal gap, epicanthic folds, hypotonia, upslanting palpebral fissures, and protruding tongue are the most frequent characteristic features seen. Similarly epicanthic folds, protruding tongue, simian crease and sandal gap, hypotonia, and …
Simian crease, sandal gap, epicanthic folds, hypotonia, upslanting palpebral fissures, and protruding tongue are the most freq …
A novel mutation in CLCN1 associated with feline myotonia congenita.
Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA. Gandolfi B, et al. PLoS One. 2014 Oct 30;9(10):e109926. doi: 10.1371/journal.pone.0109926. eCollection 2014. PLoS One. 2014. PMID: 25356766 Free PMC article.
Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. ...Direct sequencing of CLCN1 revealed a mutation disrupting a donor spli …
Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw moti …
The Castillo-Morales approach to orofacial pathology in Down syndrome.
Limbrock GJ, Castillo-Morales R, Hoyer H, Stöver B, Onufer CN. Limbrock GJ, et al. Int J Orofacial Myology. 1993 Nov;19:30-7. Int J Orofacial Myology. 1993. PMID: 9601231
The primary pathology includes hypotonicity of the perioral muscles, lips, and masticatory muscles and a protruding tongue, later followed by active tongue protrusion. This results in problems with sucking, swallowing, drooling and dentition. ...In addition, the dir …
The primary pathology includes hypotonicity of the perioral muscles, lips, and masticatory muscles and a protruding tongue, la …
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
Salah A, Almannai M, Al Ojaimi M, Radefeldt M, Gulati N, Iqbal M, Alawbathani S, Al-Ali R, Beetz C, El-Hattab AW. Salah A, et al. Clin Genet. 2022 May;101(5-6):565-570. doi: 10.1111/cge.14126. Epub 2022 Mar 13. Clin Genet. 2022. PMID: 35229282
They also shared common facial features including arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing. Exome sequencing for affected individuals revealed …
They also shared common facial features including arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, th …
Facial appearance in persistent hyperinsulinemic hypoglycemia.
de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, Saudubray JM. de Lonlay P, et al. Am J Med Genet. 2002 Aug 1;111(2):130-3. doi: 10.1002/ajmg.10463. Am J Med Genet. 2002. PMID: 12210338
GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and Wiedemann-Beckwith syndrome could always be ruled …
GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/ …
18 results