Results 21 to 30 of about 2,838 (127)

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design

Contemporary Clinical Trials Communications, 2021
Background: A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
Robert M. Haws, Gregory Gordon, Joan C. Han, Jack A. Yanovski, Guojun Yuan, Murray W. Stewart   +5 more
doaj   +1 more source

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.

PLoS ONE, 2021
Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
doaj   +1 more source

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]

, 2016
Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S., Arsenijevic, Y., Balzano, S., Bedoni, N., Blazaki, S.V., Boldt, K., Cisarova, K., Cremers, F.P., Decembrini, S., Di Gioia, S.A., El Zaoui, I., Farinelli, P., Giangreco, B., Khan, M.I., Kjellström, U., Mbefo, M.K., Messina, A., Micheal, S., Moulin, A.P., Nikopoulos, K., Plainis, S., Rivolta, C., Roepman, R., Royer-Bertrand, B., Tsika, C., Tsilimbaris, M.K., Ueffing, M.   +26 more
core   +5 more sources

Theory-of-mind in individuals with Alström syndrome is related to Executive functions, and verbal ability

Frontiers in Psychology, 2015
Objective: This study focuses on cognitive prerequisites for the development of Theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS).
Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Hans-Erik Ivert Frölander, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller, Mary eRudner, Mary eRudner, Mary eRudner, Sushmit eMishra, Jan D Marshall, Jan D Marshall, Heather Marie Piacentini, Björn eLyxell, Björn eLyxell, Björn eLyxell   +19 more
doaj   +1 more source

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]

, 2016
Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène, Barrett, Timothy G., Farmer, Amy, López de Heredia, Miguel, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes Martínez, Virginia, Paquis-Flucklinger, Véronique, Parkinson, Kay, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth   +13 more
core   +1 more source

Alström Syndrome with Acute Pancreatitis: A Case Report

Kaohsiung Journal of Medical Sciences, 2003
We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu, Shinn-Cherng Chen, Chia-Yen Dia, Ming-Lung Yu, Ming-Yuh Hsieh, Zu-Yau Lin, Liang-Yen Wang, Jung-Fa Tsai, Wen-Yu Chang, Wan-Long Chuang   +9 more
doaj   +1 more source

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

High quality, patient centred andcoordinated care for Alstrom syndrome: amodel of care for an ultra-rare disease [PDF]

, 2015
Background: Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national
Barrett, Timothy, Davison, Fabian, Geberhiwot, Tarekegn, Giacovazzi, Luca, Holtkemper, Oliver, Huang, Zexin, Parkinson, Kay, Van Groenendael, Stephanie, Wang, Qiaoying   +8 more
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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]

PLoS ONE, 2014
Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto, Gabriella Milan, Gayle B Collin, Jan D Marshall, Fabio Stasi, Pietro Maffei, Roberto Vettor, Jürgen K Naggert   +7 more
doaj   +1 more source

Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research. [PDF]

, 2014
The Patient-Centered Outcomes Research Institute (PCORI) recently launched PCORnet to establish a single inter-operable multicenter data research network that will support observational research and randomized clinical trials.
Andrew A. Nierenberg, Bruce Robinson, Esi Morgan Dewitt, Florian Eichler, Holly Peay, Janice Buelow, John Walsh, Kathleen E. Sullivan, Liz Horn, Marc Natter, Mark Pletcher, Megan O'Boyle, Michael D Kappleman, Paul Avillach, Peter A. Merkel, Rachael Fleurence, Rebecca Sutphen, Richard Colletti, Richard Mularski, Robert McBurney, Sarah E Daugherty, Sarita Wahba, Seth Ginsberg, Sue Friedman, Susan Redline   +24 more
core   +1 more source