scholarly journals Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

2020 ◽  
Vol 22 ◽  
pp. 100551
Author(s):  
H.A. Haijes ◽  
Hubertus C.M.T. Prinsen ◽  
Monique G.M. de Sain-van der Velden ◽  
Nanda M. Verhoeven-Duif ◽  
Peter M. van Hasselt ◽  
...  
Keyword(s):  
Diagnostic Ratio ◽  
Hartnup Disorder

scholarly journals Correlation between Polycyclic Aromatic Hydrocarbons in Wharf Roach (Ligia spp.) and Environmental Components of the Intertidal and Supralittoral Zone along the Japanese Coast

2021 ◽  
Vol 18 (2) ◽  
pp. 630
Author(s):  
Masato Honda ◽  
Koki Mukai ◽  
Edward Nagato ◽  
Seiichi Uno ◽  
Yuji Oshima
Keyword(s):  
Dry Weight ◽  
The Sea Of Japan ◽  
Ratio Analysis ◽  
Environmental Indicator ◽  
Diagnostic Ratio ◽  
Environmental Media ◽  
Japanese Coast ◽  
Polycyclic Aromatic ◽  
Pah Exposure ◽  
Drifting Seaweed

Polycyclic aromatic hydrocarbon (PAH) concentrations in wharf roach (Ligia spp.), as an environmental indicator, and in environmental components of the intertidal and supralittoral zones were determined, and the PAH exposure pathways in wharf roach were estimated. Wharf roaches, mussels, and environmental media (water, soil and sand, and drifting seaweed) were collected from 12 sites in Japan along coastal areas of the Sea of Japan. PAH concentrations in wharf roaches were higher than those in mussels (median total of 15 PAHs: 48.5 and 39.9 ng/g-dry weight (dw), respectively) except for samples from Ishikawa (wharf roach: 47.9 ng/g-dw; mussel: 132 ng/g-dw). The highest total PAH concentration in wharf roach was from Akita (96.0 ng/g-dw), followed by a sample from Niigata (85.2 ng/g-dw). Diagnostic ratio analysis showed that nearly all PAHs in soil and sand were of petrogenic origin. Based on a correlation analysis of PAH concentrations between wharf roach and the environmental components, wharf roach exposure to three- and four-ring PAHs was likely from food (drifting seaweed) and from soil and sand, whereas exposure to four- and five-ring PAHs was from several environmental components. These findings suggest that the wharf roach can be used to monitor PAH pollution in the supralittoral zone and in the intertidal zone.

Hartnup Disorder

2009 ◽  
pp. 775-775
Author(s):  
Dieter Metze ◽  
Vanessa F. Cury ◽  
Ricardo S. Gomez ◽  
Luiz Marco ◽  
Dror Robinson ◽  
...  
Keyword(s):  
Hartnup Disorder

scholarly journals Deep Learning Could Diagnose Diabetic Nephropathy with Renal Pathological Immunofluorescent Images

Diagnostics ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. 466
Author(s):  
Shinji Kitamura ◽  
Kensaku Takahashi ◽  
Yizhen Sang ◽  
Kazuhiko Fukushima ◽  
Kenji Tsuji ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Deep Learning ◽  
Clinical Laboratory ◽  
Clinical Course ◽  
Laboratory Data ◽  
Area Under The Curve ◽  
Medical Doctors ◽  
Diagnostic Ratio ◽  
Interpretable Model ◽  
Microscopy Images

Artificial Intelligence (AI) imaging diagnosis is developing, making enormous steps forward in medical fields. Regarding diabetic nephropathy (DN), medical doctors diagnose them with clinical course, clinical laboratory data and renal pathology, mainly evaluate with light microscopy images rather than immunofluorescent images because there are no characteristic findings in immunofluorescent images for DN diagnosis. Here, we examined the possibility of whether AI could diagnose DN from immunofluorescent images. We collected renal immunofluorescent images from 885 renal biopsy patients in our hospital, and we created a dataset that contains six types of immunofluorescent images of IgG, IgA, IgM, C3, C1q and Fibrinogen for each patient. Using the dataset, 39 programs worked without errors (Area under the curve (AUC): 0.93). Five programs diagnosed DN completely with immunofluorescent images (AUC: 1.00). By analyzing with Local interpretable model-agnostic explanations (Lime), the AI focused on the peripheral lesion of DN glomeruli. On the other hand, the nephrologist diagnostic ratio (AUC: 0.75833) was slightly inferior to AI diagnosis. These findings suggest that DN could be diagnosed only by immunofluorescent images by deep learning. AI could diagnose DN and identify classified unknown parts with the immunofluorescent images that nephrologists usually do not use for DN diagnosis.

scholarly journals Intestinal Absorption of Amino Acids and Peptides in Hartnup Disorder

1976 ◽  
Vol 10 (4) ◽  
pp. 246-249 ◽  
Author(s):  
J V Leonard ◽  
T C Marrs ◽  
J M Addison ◽  
D Burston ◽  
K M Clegg ◽  
...  
Keyword(s):  
Amino Acids ◽  
Intestinal Absorption ◽  
Hartnup Disorder

scholarly journals Diagnostic Ratio Analysis: A New Concept for the Tracking of Oil Sands Process-Affected Water Naphthenic Acids and Other Water-Soluble Organics in Surface Waters

2020 ◽  
Vol 54 (4) ◽  
pp. 2228-2243
Author(s):  
Pamela Brunswick ◽  
Dayue Shang ◽  
Richard A. Frank ◽  
Graham van Aggelen ◽  
Marcus Kim ◽  
...  
Keyword(s):  
Surface Waters ◽  
Oil Sands ◽  
Naphthenic Acids ◽  
Water Soluble ◽  
Ratio Analysis ◽  
Diagnostic Ratio

Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder

2005 ◽  
Vol 33 (1) ◽  
pp. 233-236 ◽  
Author(s):  
S. Bröer ◽  
J.A. Cavanaugh ◽  
J.E.J. Rasko
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Amino Acid Transport ◽  
Neutral Amino Acid ◽  
Electrophysiological Recording ◽  
Candidate Gene Approach ◽  
Acid Transport ◽  
Japanese Family ◽  
Transporter Family ◽  
Hartnup Disorder

Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport. A corresponding transport activity has been characterized in kidney and intestinal cells and named system B0. The failure to resorb amino acids in this disorder is thought to be compensated by a protein-rich diet. However, in combination with a poor diet and other factors, more severe symptoms can develop in Hartnup patients, including a photosensitive pellagra-like skin rash, cerebellar ataxia and other neurological symptoms. Homozygosity mapping in a Japanese family and linkage analysis on six Australian pedigrees placed the Hartnup disorder gene at a locus on chromosome 5p15. This fine mapping facilitated a candidate gene approach within the interval, which resulted in the cloning and characterization of a novel member of the sodium-dependent neurotransmitter transporter family (B0AT1, SLC6A19) from mouse and human kidney, which shows all properties of system B0. Flux experiments and electrophysiological recording showed that the transporter is Na+ dependent and Cl− independent, electrogenic and actively transports most neutral amino acids. In situ hybridization showed strong expression in intestinal villi and in the proximal tubule of the kidney. Expression of B0AT1 was restricted to kidney, intestine and skin. A total of ten mutations have been identified in SLC6A19 that co-segregate with disease in the predicted recessive manner, with the majority of affected individuals being compound heterozygotes. These mutations lead to altered neutral amino acid transport function compared to the wild-type allele in vitro. One of the mutations occurs in members of the original Hartnup family described in 1956, thereby defining SLC6A19 as the ‘Hartnup’-gene.

Apical Transporters for Neutral Amino Acids: Physiology and Pathophysiology

Physiology ◽  
2008 ◽  
Vol 23 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Stefan Bröer
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Molecular Identification ◽  
Molecular Basis ◽  
Amino Acid Transporters ◽  
Lysinuric Protein Intolerance ◽  
Inherited Disorders ◽  
Lysinuric Protein ◽  
Hartnup Disorder ◽  
Protein Intolerance

Absorption of amino acids in kidney and intestine involves a variety of transporters for different groups of amino acids. This is illustrated by inherited disorders of amino acid absorption, such as Hartnup disorder, cystinuria, iminoglycinuria, dicarboxylic aminoaciduria, and lysinuric protein intolerance, affecting separate groups of amino acids. Recent advances in the molecular identification of apical neutral amino acid transporters has shed a light on the molecular basis of Hartnup disorder and iminoglycinuria.

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