scholarly journals Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis

2011 ◽  
Vol 286 (31) ◽  
pp. 27425-27435 ◽  
Author(s):  
Chih-Jen Cheng ◽  
Shih-Hua Lin ◽  
Yi-Fen Lo ◽  
Sung-Sen Yang ◽  
Yu-Juei Hsu ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis

scholarly journals Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

2011 ◽  
Vol 286 (38) ◽  
pp. 33707-33707 ◽  
Author(s):  
Chih-Jen Cheng ◽  
Shih-Hua Lin ◽  
Yi-Fen Lo ◽  
Sung-Sen Yang ◽  
Yu-Juei Hsu ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis

scholarly journals Biophysical Characterization of Two NaV1.4 Mutations Making a Clinical Overlap between the Myotonia-Hyperkalemic and Hypokalemic Periodic Paralysis Clusters of Disorders

2018 ◽  
Vol 114 (3) ◽  
pp. 632a
Author(s):  
Mohamed Chahine ◽  
Hugo Poulin ◽  
Pascal Gosselin-Badaroudine ◽  
Savine Vicart ◽  
Karima Habbout ◽  
...  
Keyword(s):  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Biophysical Characterization

scholarly journals Characterization of a NaV1.4 Hypokalemic Periodic Paralysis Mutation in Domain I

2018 ◽  
Vol 114 (3) ◽  
pp. 631a
Author(s):  
James R. Groome ◽  
Landon Bayless-Edwards ◽  
Paula Arinze ◽  
Frank Lehmann-Horn ◽  
Karin Jurkat-Rott
Keyword(s):  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Domain I

Morphologic alteration in the muscles of patients with hypokalemic periodic paralysis or myopathy

1990 ◽  
Vol 48 (3) ◽  
pp. 222-223
Author(s):  
T. Shimizu ◽  
Y. Muranaka ◽  
I. Ohta ◽  
N. Honda
Keyword(s):  
Clinical Manifestations ◽  
Quadriceps Muscle ◽  
Honeycomb Structure ◽  
Periodic Paralysis ◽  
Ultrastructural Changes ◽  
Hypokalemic Periodic Paralysis ◽  
Electron Microscopic ◽  
Tubular Aggregates ◽  
Hypokalemic Myopathy ◽  
Transmission Electron

There have been many reports on ultrastructural alterations in muscles of hypokalemic periodic paralysis (hpp) and hypokalemic myopathy(hm). It is stressed in those reports that tubular structures such as tubular aggregates are usually to be found in hpp as a characteristic feature, but not in hm. We analyzed the histological differences between hpp and hm, comparing their clinical manifestations and morphologic changes in muscles. Materials analyzed were biopsied muscles from 18 patients which showed muscular symptoms due to hypokalemia. The muscle specimens were obtained by means of biopsy from quadriceps muscle and fixed with 2% glutaraldehyde (pH 7.4) and analyzed by ordinary method and modified Golgimethod. The ultrathin section were examined in JEOL 200CX transmission electron microscopy.Electron microscopic examinations disclosed dilated t-system and terminal cistern of sarcoplasmic reticulum (SR)(Fig 1), and an unique structure like “sixad” was occasionally observed in some specimens (Fig 2). Tubular aggregates (Fig 3) and honeycomb structure (Fig 4) were also common characteristic structures in all cases. These ultrastructural changes were common in both the hypokalemic periodic paralysis and the hypokalemic myopathy, regardless of the time of biopsy or the duration of hypokalemia suffered.

Functional characterization of human brown adipose tissue metabolism

2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin
Keyword(s):  
Adipose Tissue ◽  
Brown Adipose Tissue ◽  
Functional Characterization ◽  
Human Infants ◽  
Positron Emission ◽  
Brown Adipose ◽  
Treatment Of Obesity ◽  
And Function

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.

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