Research Database
The research database is a compilation of research abstracts and articles about Prader-Willi syndrome (PWS) as well as topics related to PWS. Beginning in November 2007, the database is being reorganized to make its entries more accessible by subject and date, but that process is incomplete, so be sure to try a search (using the search box in the upper right corner above) if you don't find much through the links below.
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Old database listing
[ 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 ]
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2006
2005
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2003
- 2003-12-01 Luboshitzky - Pituitary-gonadal function in men with obstructive sleep apnea - effect of CPAP
- 2003-12-01 Hoybye - Peptides associated with hyperphagia in adults with PWS before and during GH treatment
- 2003-12-01 Giavoli - Recombinant hGH replacement therapy and the hypothalamus-pituitary-thyroid axis in children with GH deficiency - hypothyroidism
- 2003-11-01 Wainwright - L-carnitine reduces brain injury after hypoxia-ischemia in newborn rats
- 2003-11-01 Inano - Acetyl-L-carnitine permeability across the blood-brain barrier
- 2003-11-01 Durand - Psychiatric manifestations of vitamin B12 deficiency
- 2003-10-15 Horsthemke - Somatic mosaicism for maternal uniparental disomy 15 in a girl with PWS
- 2003-10-01 Stevens - EFA supplementation in children with inattention hyperactivity and other disruptive behaviors
- 2003-10-01 Mattick - Challenging the dogma - hidden layer of non-protein-coding RNAs
- 2003-10-01 Hoybye - Growth hormone-insulin-like growth factor axis in adults with PWS
- 2003-10-01 Gottlieb - Symptoms of sleep-disordered breathing in 5-year-old children are associated with sleepiness and problem behaviors
- 2003-09-04 Batterham - Inhibition of food intake in obese subjects by peptide YY3-36
- 2003-09-01 Bekx - Decreased energy expenditure is caused by abnormal body composition in infants with PWS
- 2003-08-01 Marriage - Nutritional cofactor treatment in mitochondrial disorders - Important!!
- 2003-07-15 Shigematsu - Selective screening for fatty acid oxidation disorders by tandem mass spectrometry - difficulties in practical discrimination
- 2003-07-01 Wu - Ascorbate inhibits iNOS expression and preserves vasoconstrictor responsiveness in skeletal muscle of septic mice
- 2003-06-30 Lyoo - Multinuclear magnetic resonance spectroscopy of high-energy phosphate metabolites in human brain following creatine supplementation
- 2003-06-01 Yue - Case-control study on psychological symptoms in sleep apnea-hypopnea syndrome
- 2003-06-01 Pascale - Modulation of methylation in the FMR1 promoter region after long term treatment with L-carnitine and acetyl-L-carnitine
- 2003-06-01 Obici - Inhibition of hypothalamic carnitine palmitoyltransferase-1 decreases food intake and glucose production
- 2003-06-01 Dedeoglu - Creatine therapy provides neuroprotection after onset of clinical symptoms in Huntingtons disease mice
- 2003-06-01 Butler - Coenzyme Q10 levels in PWS
- 2003-06-01 Batterham - Gut hormone peptide YY regulates appetite
- 2003-05-01 Haqq - Effects of GH on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in PWS
- 2003-04-08 Lamperti - Cerebellar ataxia and coenzyme Q10 deficiency
- 2003-04-04 Friedrich - Functional characterization of OCTN2 transporter
- 2003-04-01 Bramnert - GH therapy induces insulin resistance by activating the glucose-fatty acid cycle
- 2003-04-01 Wassmer - Dual pathology in two hypotonic children with PWS and muscle mitochondrial Complex I deficiency - Important!!
- 2003-03-01 OBrien - Sleep and neurobehavioral characteristics of 5-7-year-old children with attention-deficit-hyperactivity disorder
- 2003-02-01 Cameron-Smith - Short-term, high-fat diet up-regulates lipid metabolism and gene expression in human skeletal muscle
- 2003-01-02 Gu - Role of duplicate genes in genetic robustness against null mutations
- 2003-01-01 Wilcken - Introduction to nutritional treatment in inborn errors of metabolism
- 2003-01-01 Malouf - Effect of vitamin B6 on cognition
- 2003-01-01 Haqq - Serum ghrelin levels inversely correlated with body mass index, age, and insulin concentrations in normal children and markedly increased in PWS
- 2003-01-01 Colin - Lipids, depression and suicide
- 2003-01-01 Acuna-Castroviejo - Mitochondrial regulation by melatonin and its metabolites
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1994
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Hear Res. 2002 Jul;169(1-2):69-84.
Inner ear pathology in the mucopolysaccharidosis VII mouse.
Ohlemiller KK, Hennig AK, Lett JM, Heidbreder AF, Sands MS.
Fay and Carl Simons Center for the Biology of Hearing and Deafness, Central Institute for the Deaf, 4560 Clayton Ave., Saint Louis, MO, USA.
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is caused by dysfunction of the acid hydrolase beta-D-glucuronidase. The defect results in the accumulation of incompletely degraded glycosaminoglycans within lysosomes of a wide array of cell types. MPS VII is associated with mixed (conductive and sensorineural) hearing loss, vision defects, shortened stature, mental retardation and decreased lifespan. Whether the sensorineural component of hearing loss in MPS VII involves degeneration of cochlear sensory cells is not yet clear. The MPS VII mouse resembles its human counterpart in all major aspects, and has been the focus of extensive research seeking to correct MPS VII and other lysosomal storage diseases. The value of potential treatments for this hearing loss can be determined only if cochlear pathology in this model is well characterized. We examined threshold sensitivity, frequency tuning, hair cell density and the appearance of the cochlea and vestibular organs in MPS VII mice ranging from 1.0 to 7.5 months of age. At all ages, lysosomal storage is pronounced within cells of spiral limbus, spiral prominence, spiral ligament and glial cells, but not within organ of Corti, stria vascularis, or neurons. Within the vestibular maculae and cristae, both hair cells and supporting cells also show lysosomal storage. Although hearing thresholds are never normal, reduction in the sharpness of frequency tuning is not apparent until 2.5 months of age, suggesting that the sensorineural component of hearing loss begins in adulthood. No evidence was found for cell loss within the organ of Corti, or any other structure, however. Our results suggest that sensorineural hearing loss in the MPS VII mouse is not caused by degeneration, but may arise from alterations in mass and stiffness of cochlear structures or impaired sensory cell function. They also indicate a possible vestibular component in MPS VII.
Categories: 2002, Mucopolysaccharidosis type VII, Hearing, Speech, Lysosomal storage disorders, Mucopolysaccharidosis, Beta-glucuronidase
Lab Invest. 1994 Sep;71(3):438-45.
Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss.
Berry CL, Vogler C, Galvin NJ, Birkenmeier EH, Sly WS.
Department of Pathology, Saint Louis University School of Medicine, Missouri.
BACKGROUND: Patients with mucopolysaccharidosis commonly have hearing impairment but the morphologic alterations in the ear caused by these lysosomal storage diseases are incompletely defined. EXPERIMENTAL DESIGN: We studied a murine model of mucopolysaccharidosis VII with clinical features, including conductive hearing loss and biochemical, and pathologic features similar to those seen in human mucopolysaccharidoses. Gross morphology, radiography, light and electron microscopy were used to define the pathologic alterations in the ear that correlate with auditory dysfunction in mucopolysaccharidosis VII. RESULTS: Cerumen [ear wax] occluded the external auditory canal and there was a severe otitis media. The bone encasing the middle and inner ear was sclerotic and opaque and the temporal bone and the ossicles and their joints contained cells distended by enlarged lysosomes. Hair cell damage and multifocal lysosomal distention in endoneural fibroblasts and spiral ganglion neurons characterized the mucopolysaccharidosis VII cochlea. CONCLUSIONS: The external auditory canal obstruction, otitis media, and ossicle articular alterations in mucopolysaccharidosis VII mice cause a conductive hearing loss. The hair cell damage and neuronal storage may contribute to sensorineural deafness. This model allows investigation of the pathophysiology of auditory dysfunction in mucopolysaccharidosis and the effects of therapies on hearing loss.
Categories: 1994, Mucopolysaccharidosis Type VII, Beta-glucuronidase, Hearing, Speech, Lysosomal storage disorders, Mucopolysaccharidosis
Int J Pediatr Otorhinolaryngol. 1990 Jun;19(2):97-107.
Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII.
Wallace SP, Prutting CA, Gerber SE.
Department of Speech and Hearing Sciences, University of California, Santa Barbara.
Mucopolysaccharidosis VII (MPS-VII) is probably the rarest of the mucopolysaccharidoses; literature reveals only 20 cases. We have had the opportunity to study and treat such a child in our clinic, and this paper documents his speech, language, and hearing. Results demonstrated a delay with respect to his chronological age in all cognitive, linguistic, and social domains. He had a mixed hearing loss which could have contributed to his diminishing speech and language abilities; he had chronic otitis media. After 59 h of speech and language intervention (over a period of 19 months), primarily for language treatment, standardized tests revealed that his scores had decreased over time. During this period, both his speech production and his hearing got poorer. At about the time of his 8th birthday, he underwent a permanent tracheostomy, altering further therapy. Although MPS-VII is a very rare disorder, what has been learned here may apply to other MPSs and even to other multiply handicapped patients. We hope that the presentation of our findings may assist others when confronted with complex, degenerative disorders.
Categories: 1990, Mucopolysaccharidosis type VII, Speech, Hearing
