geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Dry cough and optic neuritis: two rare complications of interferon alpha treatment in chronic viral hepatitis


, : Dry cough and optic neuritis: two rare complications of interferon alpha treatment in chronic viral hepatitis. American Journal of Gastroenterology 96(4): 1303-1304

Germline mutations of the RET proto-oncogene (RET), its ligand glial cell-derived neurotrophic factor (GDNF), and neurturin (NTN) gene have been reported in patients with Hirschsprung's disease. A targeted mutation in the tyrosine kinase domain of RET produced total intestinal aganglionosis and renal agenesis in homozygous transgenic mice. Here we describe a homozygous mutation of the human gene for the RET tyrosine kinase domain that was present in a male neonate with total intestinal aganglionosis. Gut wall biopsy specimens from the stomach to the anorectum showed no ganglion cells. No urinary tract abnormalities were detected. Genomic DNAs were isolated from peripheral blood lymphocytes of the infant and his parents. DNA sequences of all the RET/GDNF/NTN coding regions were determined using a direct DyeDeoxy Terminator Cycle method. A homozygous missense mutation (CGG-to-TGG) at RET codon 969 was identified in this patient, which resulted in an amino acid change from arginine to tryptophan. No germline RET/GDNF/NTN mutations were found in his parents. In this case, the homozygous RET mutation seemed to cause a critical alteration of the Ret tyrosine kinase activity, which resulted in total intestinal aganglionosis but not renal agenesis. Discrepancies in phenotypic expression between humans and mice suggest differing threshold values for RET signal transduction in species or organs.

US$19.90

PMID: 11316196

DOI: 10.1111/j.1572-0241.2001.03727.x


Other references

Bocquentin Villanueva, J., 1982: Notas sobre la fauna del Pleistoceno superior de Taima-Taima depositada en el Museo del Hombre de Coro, Estado Falcon, Venezuela. Acta Cientifica Venezolana, 336: 479-487

Kingston, T.; Scully, P.J.; Browne, D.J.; Baldwin, P.A.; Kinsella, A.; Russell, V.; O'Callaghan, E.; Waddington, J.L., 2014: Diagnostic trajectory, interplay and convergence/divergence across all 12 DSM-IV psychotic diagnoses: 6-year follow-up of the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS). The boundaries of psychotic illness and the extent to which operational diagnostic categories are distinct in the long term remain poorly understood. Clarification of these issues requires prospective evaluation of diagnostic trajectory, interplay...

Puglisi, F.; Aprile, G.; Londero, V.; Minisini, A.M.; Valent, F.; Zuiani, C.; Bazzocchi, M.; Mansutti, M.; D.L.reto, C.; Sobrero, A., 2002: Response to preoperative chemotherapy for stage II-III breast carcinoma A comparison of mammography, US and MRI. European Journal of Cancer 38(Supplement 3): S154, March

Yun, S-Moon.; Cho, S-Jung.; Song, J.Chun.; Song, S.Yeon.; Jo, S.Ahn.; Jo, C.; Yoon, K.; Tanzi, R.E.; Choi, E-Ju.; Koh, Y.Ho., 2013: SUMO1 modulates Aβ generation via BACE1 accumulation. Accumulation of disease-related proteins is a characteristic event observed in the pathogenesis of neurodegenerative diseases. β-secretase (BACE)-1, which initiates generation of β-amyloid (Aβ), is increased in the Alzheimer's diseased bra...

Kinney, T.B.; Lowe, P.C.; Bohren, B.B.; Wilson, S.P., 1968: Genetic and phenotypic variation in randombred White Leghorn controls over several generations. Data from 8 generations of the Regional Cornell Control Population of S. C. [single comb] White Leghorns were analyzed to obtain estimates of means, components of variance, heritabilities and genetic correlations for 13 traits. The phenotypic mean...

Elion, R.; Molina, J-Michel.; Ramón Arribas López, Jé.; Cooper, D.; Maggiolo, F.; Wilkins, E.; Conway, B.; Liu, Y-Pei.; Margot, N.; Rhee, M.; Chuck, S.L.; Szwarcberg, J., 2013: A randomized phase 3 study comparing once-daily elvitegravir with twice-daily raltegravir in treatment-experienced subjects with HIV-1 infection: 96-week results. : This 96-week, double-blind, active-controlled, phase 3 study, randomized subjects to elvitegravir once daily or raltegravir twice daily with a fully active, ritonavir-boosted protease inhibitor plus a third agent. The proportion of subjects rand...

Jeste, D.V.; Barban, L.; Karson, C.N.; Waldman, I.N.; Patterson, D.; Anderson, C.; Wyatt, R.J., 1984: Psychopathology and dyskinesia. Psychopharmacology Bulletin 20(1): 41-41

Benick, L., 1915: Ueber Stenus morio Grav. und melanarius Steph., nebst Beschreibung einer neuen deutschen Art (Col. ). Entomologische Mitteilungen Berlin, 4: 226-234

Solbrig, O.T., 1960: Wild and cultivated plants of the Caprifoliaceae in Argentina. The descriptions include cultivated species of Viburnum, Abelia, Weigela, Lonicera and Symphoricarpos grown as ornamentals and also of the medicinal species Sambucus ebulus, V. prunifolium and L. periclymenum.

Nakano K.; Hara H., 1979: Measurement of the protein synthetic activity in vivo of various tissues in rats by using tritium labeled puromycin. The validity of a new technique was examined for estimating the protein-synthetic activity of various tissues in vivo. The basic assumption underlying the method is that the number of peptide chains growing on each active ribosome would increase a...