Results 11 to 20 of about 44,570 (243)

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs.
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama   +13 more
doaj   +1 more source

Emergency department visits and associated factors among people with dementia residing in nursing homes in Taiwan: a one-year cohort study

BMC Geriatrics, 2023
Background Residing in a nursing home (NH) may increase emergency department (ED) utilization in patients with dementia; however, evidence regarding the status of and predictors for ED utilization of NH residents with dementia remains unclear, especially
Jiun-Yi Wang, Yu-Wan Yang, Chien-Hui Liu, Kun-Chia Chang, Yi-Ting Lin, Chih-Ching Liu   +5 more
doaj   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
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Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea ...
Célia H. Tengan, Antonio C. Antunes, José R. Bauab, Gilmar F. Prado, Gilberto M. Manzano, Alberto A. Gabbai   +5 more
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A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Frontiers in Genetics, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani   +5 more
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Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease

Annals of Clinical and Translational Neurology, 2022
Parkinson's disease and Alzheimer's disease show overlapping features both clinically and neuropathologically and elucidating shared mechanisms could have important implications for therapeutic strategies.
Maren Stolp Andersen, Manuela Tan, Inge R. Holtman, John Hardy, International Parkinson's Disease Genomics Consortium, Lasse Pihlstrøm   +5 more
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Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

Frontiers in Neurology, 2023
Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj   +1 more source

The Distribution Characteristics of Aerosol Bacteria in Different Types of Pig Houses

Animals, 2022
With the development of modern pig raising technology, the increasing density of animals in pig houses leads to the accumulation of microbial aerosols in pig houses.
Huan Cui, Cheng Zhang, Juxiang Liu, Shishan Dong, Kui Zhao, Ligong Chen, Zhaoliang Chen, Yucheng Sun, Zhendong Guo   +8 more
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Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

Frontiers in Cell and Developmental Biology, 2022
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager, Ceara K. McAtee, Mitchell A. Lesko, Allyson F. O’Donnell   +3 more
doaj   +1 more source

Factors Affecting Healthcare Utilization among Patients with Single and Multiple Chronic Diseases

Iranian Journal of Public Health, 2020
Background: We aimed to investigate the factors affecting healthcare utilization among patients with single and multiple chronic diseases using the Andersen healthcare utilization model.
Ka Young KIM, Eunmi LEE, Jeonghyun CHO
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