Article
Ophthalmology
Jared E. Knickelbein, Brett G. Jeffrey, Maggie M. Wei, Shuk Kei Cheng, Natasha Kesav, Susan Vitale, H. Nida Sen
Summary: The study investigated the variability of ffERG measurements in stable birdshot chorioretinopathy patients, finding that intra-visit variability was lower than inter-visit variability. It was suggested that a 40% reduction in ERG amplitude and/or a delay of >2 msec in the photopic single flash response may be suitable criteria for determining meaningful change in BCR patients.
OCULAR IMMUNOLOGY AND INFLAMMATION
(2021)
Article
Endocrinology & Metabolism
Agnieszka Zmyslowska, Urszula Smyczynska, Marcin Stanczak, Krzysztof Jeziorny, Agnieszka Szadkowska, Wojciech Fendler, Maciej Borowiec
Summary: This study found that patients with ALMS and BBS syndromes have different circulating miRNA expressions compared to obese individuals and controls. Additionally, eight miRNAs were found to be associated with the course of these diseases.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Ophthalmology
Jin-Ho Joo, Sang Woong Moon
Summary: Performing ffERG before surgery can assist in predicting postoperative visual outcomes, with parameters from LA 3.0 ERG and DA OP ERG showing significant correlations with postoperative BCVA. ROC curve analysis demonstrated high accuracy of these parameters in predicting good visual outcomes.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2021)
Article
Health Care Sciences & Services
Jung-Je Yang, Chu-Hsuan Huang, Chang-Hao Yang, Chung-May Yang, Chao-Wen Lin, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Chen
Summary: This study reviewed the clinical experience of full-field ERG in a single medical center over an 8-year period, finding that retinal dystrophies were the most common indication for the test, while central nervous system disease was the most common systemic disease. The average number of ffERGs performed annually was constant, indicating the importance of ffERG in diagnosing and predicting outcomes in ophthalmologic and multidisciplinary practice.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Medicine, General & Internal
Ayako Arashiro, Hayato Shinzato, Kota Kamizato, Manabu Kakinohana
Summary: Patients with Alstrom syndrome undergoing surgery for scoliosis may benefit from anesthesia that preserves liver function and avoids propofol. Remimazolam, an ultrashort-acting benzodiazepine, may be a suitable alternative to propofol in such cases, reducing the risk of motor impairments during surgery.
Article
Genetics & Heredity
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, Jose M. Millan, Carmen Ayuso, Diana Valverde
Summary: Alstrom syndrome is an ultra-rare disease caused by mutations in the ALMS1 gene, leading to a range of symptoms. Two novel pathogenic mutations were discovered in homozygosis, along with a probable founder effect in three unrelated families.
Article
Ophthalmology
Thomas Richard Johansen Forshaw, Troels Wesenberg Kjaer, Sten Andreasson, Torben Lykke Sorensen
Summary: The study used full-field electroretinography to examine the response of eyes with AMD, finding significant differences in light-adapted 3.0 a-wave implicit time and 30-Hertz flicker peak time between patients with late AMD and those without vitreoretinal disease. In early AMD patients, only the difference in light-adapted 3.0 a-wave implicit time compared to the control group was significant.
ACTA OPHTHALMOLOGICA
(2021)
Article
Genetics & Heredity
Qianwen Zhang, Yu Ding, Biyun Feng, Yijun Tang, Yao Chen, Yirou Wang, Guoying Chang, Shijian Liu, Jian Wang, Qian Li, Lijun Fu, Xiumin Wang
Summary: This study is the largest cohort of Chinese ALMS patients to date. Through detailed genetic and phenotypic data, specific and common variants were successfully identified in the cohort. The study also found olfactory identification impairments and distinctive facial patterns in ALMS patients.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Ping Jiang, Liang Xiao, Yuan Guo, Rong Hu, Bo-Yi Zhang, Yi He
Summary: We report a case of an infant with Alstrom syndrome (AS) presenting with dilated cardiomyopathy (DCM) caused by a novel mutation of the ALMS1 gene. Whole-exome sequencing revealed a simultaneous large deletion and point mutation in ALMS1, leading to frameshift and missense mutations, respectively. The baby's biohumoral exams and arrhythmic burden improved after optimized anti-remodeling therapy at a 6-month follow-up.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Medicine, General & Internal
Silvia Bettini, Giancarlo Bombonato, Francesca Dassie, Francesca Favaretto, Luca Piffer, Paola Bizzotto, Luca Busetto, Liliana Chemello, Marco Senzolo, Carlo Merkel, Paolo Angeli, Roberto Vettor, Gabriella Milan, Pietro Maffei
Summary: Patients with Alström syndrome show significant abnormalities in liver fibrosis and steatosis, which may be related to metabolic and genetic alterations. Shear wave elastography and ultrasound sonographic are promising tools for evaluating disease progression. The ALMS1 gene may be involved in liver fibrogenesis.
Article
Ophthalmology
Wei Kiong Ngo, Laura A. Jenny, Angela H. Kim, Masha Kolesnikova, Vivienne C. Greenstein, Stephen H. Tsang
Summary: The study showed significant correlations between FST threshold values and selected functional and anatomical outcome measures, particularly with LA 3.0 flicker amplitude and EZ band length measured on optical coherence tomography. This suggests the potential of FST as an adjunct outcome measure.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Clinical Neurology
Sadik Quoraishi, Gemma Mason, Tarekegn Geberhiwot, Claudia Lucy Dalton
Summary: This study characterized the patterns of hearing loss and methods of hearing rehabilitation in adults with Alstrom syndrome in the UK. The results showed that sensorineural hearing loss (SNHL) was present in almost all patients, and hearing deteriorated with age. Air conduction hearing aids were the most commonly used method of hearing rehabilitation.
OTOLOGY & NEUROTOLOGY
(2022)
Article
Clinical Neurology
Linlin Zhang, Xinjie Liu
Summary: De novo pathogenic variants in GABRA1 are more common than inherited variants, and most children with epilepsy show symptoms within the first year of life, presenting with a variety of seizure types and developmental delays.
FRONTIERS IN NEUROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Inn-Chi Lee, Kuo-Liang Chiang
Summary: Mutations in the SURF1 gene can cause Leigh syndrome, characterized by severe symptoms and varying disease courses. Treatment options such as a ketogenic diet and coenzyme Q supplementation may provide some relief, but overall therapeutic efficacy remains limited.
Review
Urology & Nephrology
Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Takayuki Okamoto, Kandai Nozu
Summary: This study systematically reviewed LAMB2-associated diseases, characteristics of LAMB2 nephropathy, and genotype-phenotype correlations, revealing a diversity of disease phenotypes and their associations with different gene variants.
KIDNEY INTERNATIONAL REPORTS
(2023)