Wolfram syndrome. How much could knowledge challenge the fate? A case report

Medical Science Monitor

Volumn 11, Issue 7, 2005, Pages

  Fabbri, Lea Paola ^a   Nucera, Maria ^a   Grippo, Antonello ^a   Menicucci, Adriana ^b   De Feo, Maria Laura ^b   Beechi, Chiara ^a   Al Malyan, Mohamed ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

Diagnosis; DIDMOAD syndrome; Weaning; Wolfram syndrome

Indexed keywords

AMIKACIN; CEFTAZIDIME; DESMOPRESSIN; DOXAPRAM; INSULIN; TEICOPLANIN;

ADULT; ARTICLE; ARTIFICIAL VENTILATION; BRAIN ATROPHY; CASE REPORT; DIABETES INSIPIDUS; DISEASE COURSE; ETHICS; EXON; FEMALE; GENE; HUMAN; INTENSIVE CARE UNIT; LOBAR PNEUMONIA; LUNG COMPLICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT CARE; REHABILITATION; WOLFRAM SYNDROME; WOLFRAMIN GENE;

FEMALE; HUMANS; MIDDLE AGED; PNEUMONIA; RESPIRATORY INSUFFICIENCY; WOLFRAM SYNDROME;

EID: 22244462119     PISSN: 12341010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Barret TG, Bundey SE: Wolfram (DIDMOAD) syndrome. J Med Genet, 1997; 34(1): 838-41
2. Kinsley B, Dumont RH, Swift M et al: Morbidity and Mortality in the Wolfram Syndrome. Diabetes Care, 1995; 18(12): 1566-70
3. Vendrell J, Ercilla G, Faundez A et al: Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome. Diabetes Res Clin Pract, 1994; 1: 175-80
4. Galluzzi P, Filosomi G, Vallone IM et al: MRI of Wolfram syndrome (DIDMOAD). Neuroradiology, 1999; 41: 729-31
5. Dreyer M, Rudiger HW, Bujara K et al: The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Klin Wochenschr, 1982; 60: 471-75
6. Khardori R, Stephens JW, Page OC et al: Diabetes mellitus and optic atrophy in two siblings, a report on a new association and a review of the literature. Diabetes Care, 1983; 6: 67-70
7. Thompson CJ, Charlton J, Walford S et al: Vasopressin secretion in DIDMOAD (Wolfram) syndrome. QJ Med, 1989; 71: 333-45
8. Gregorios JB: Wolfram's syndrome with schizophrenia and cerebral hypoventilation. a neuropathological study. J Neuropathol Exp Neurol, 1989; 48: 308 (abstract)
9. Cooper IS, Rynearson EH, Bailey AA et al: The relation of spinal cord diseases to gynecomastia and testicular atrophy. Proc Mayo Clin, 1950; 25: 320-27
10. Jackson MJ, Bindoff LA, Weber K et al: Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Diabetes Care, 1994; 17: 728-33
11. Rose FC, Fraser GR, Friedmann AI et al: The association of juvenile diabetes mellitus and optic atrophy, clinical and genetical aspects. QJ Med, 1966; 35: 385-405
12. Swift ID, Perkins DO, Chase CL et al: Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatr, 1991; 148: 775-79
13. Barrientos A, Volpini V, Casademont J et al: A nuclear defect in the 4p16 region predispose to multiple mitochondrial DNA deletions in families with Wolfram syndrome. Clin Invest, 1996; 97(7): 1570-76
14. Khanim F, Kirk J, Latif F et al: WFS1/wolframin mutations, Wolfram syndrome and associated disease. Hum Mutat, 2001; 17(5): 357-67
15. Tessa A, Carbone I, Matteoli MC et al: Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat, 2001; 17(4): 348-49
16. Takeda K, Inoue H, Tanizawa Y et al: WFS1 (Wolfram syndrome 1) gene product, predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mole Genet, 2001; 10(5): 477-84
17. Strom TM, Hortnagel K, Hofmann S et al: Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet, 1998; 13: 2021-28
18. Morrell MJ, Shea SA, Adams L et al: Effects of inspiratory support upon breathing in humans during wakefulness and sleep. Respir Physiol, 1993; 93: 57
19. th ed. Philadelphia, Lippincott Williams & Wilkins, 2003; 661-72
20. Wilson CR, Satoh M, Skatrud JB, Dempsey JA: Non-chemical inhibition of respiratory motor output during mechanical ventilation in sleeping humans. J Physiol, 1999; 518(2): 605-18