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About 175 results

ALLMedicine™ Alström Syndrome Center

Research & Reviews  67 results

Spinal fusion with motor evoked potential monitoring using remimazolam in Alström syndr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615471
Medicine Arashiro A, Shinzato H et. al.

Dec 30th, 2021 - Alström syndrome is a rare genetic disorder characterized by obesity, diabetes mellitus, cardiomyopathy, and liver dysfunction. Further, scoliosis, a common symptom of Alström syndrome, often requires surgical intervention for functional impairmen...

The Hedgehog Signaling Pathway is Expressed in the Adult Mouse Hypothalamus and Modulat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8482854
ENeuro Antonellis PJ, Engle SE et. al.

Sep 19th, 2021 - The hedgehog signaling pathway is best known for its role in developmental patterning of the neural tube and limb bud. More recently, hedgehog signaling has been recognized for its roles in growth of adult tissues and maintenance of progenitor cel...

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogen...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353411
EBioMedicine Eintracht J, Forsythe E et. al.

Aug 9th, 2021 - Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and r...

Anesthetic Considerations in Alström Syndrome: A Case Report.
https://doi.org/10.1213/XAA.0000000000001503
A&A Practice; Aslam MZ, O'Meachair A et. al.

Jul 21st, 2021 - Alström syndrome is a rare genetic condition that affects cardiac, respiratory, endocrine, hepatorenal, gastrointestinal, auditory, ophthalmic, and musculoskeletal systems. This multisystem syndrome poses significant anesthetic challenges, along w...

Impaired Ca2+ signaling due to hepatic steatosis mediates hepatic insulin resistance in...
https://doi.org/10.1152/ajpcell.00020.2021
American Journal of Physiology. Cell Physiology; Ali ES, Girard D et. al.

Jun 10th, 2021 - Ca2+ signaling plays a critical role in the regulation of hepatic metabolism by hormones including insulin. Changes in cytoplasmic Ca2+ regulate synthesis and posttranslational modification of key signaling proteins in the insulin pathways. Emergi...

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Clinicaltrials.gov  2 results

Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
https://clinicaltrials.gov/ct2/show/NCT03184584

Nov 3rd, 2020 - This is a Phase 2, open-label, single-arm, multi-centre study evaluating the long term safety and tolerability of PBI-4050 in subjects with Alström Syndrome who have completed the end-of-treatment (EoT) visit in a preceding ProMetic-sponsored Alst...

Clinical Study of a Single Ciliopathy: Alström Syndrome
https://clinicaltrials.gov/ct2/show/NCT02890550

Jun 21st, 2019 - The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets. The investigators believe that the clinical consequences of mutations in...

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News  1 results

$8B Price Tag for PCOS; Tymlos Label Update; Genetic Obesity Tx Seeks New Approvals
https://www.medpagetoday.com/endocrinology/generalendocrinology/94704

Sep 26th, 2021 - Eli Lilly is voluntarily recalling one lot of the glucagon emergency kit for low blood sugar with an expiration of April 2022 due to loss of potency, the FDA announced. The estimated cost to diagnose and treat women with polycystic ovary syndrome ...

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