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Article ; Online: Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.

Treviño-Herrera, Alan Baltazar / Bustamante-Vargas, Ana Patricia / Lisker-Cervantes, Andrés / Ríos Y Valles Valles, Dolores / Villanueva-Mendoza, Cristina / González-Duarte, Alejandra / Concha-Del-Río, Luz Elena

Ophthalmic genetics

2022 Volume 43, Issue 3, Page(s) 413–419

Abstract: ... of vitreous amyloidosis as the initial presentation of ATTRv amyloidosis resulting from the rare Ile107Met (p ... the pathogenic variant Ile107Met (p.Ile127Met). It is important to consider vitreous amyloidosis as part ...

Abstract	Background: Hereditary transthyretin amyloidosis (ATTR) is a multisystemic disease with autosomal dominant inheritance, characterized by the deposition of amyloid-insoluble proteins. We describe a case of vitreous amyloidosis as the initial presentation of ATTRv amyloidosis resulting from the rare Ile107Met (p.Ile127Met) pathogenic variant. Materials and methods: Ophthalmic examination, multimodal imaging, vitreous biopsy, and genetic testing were performed to confirm the diagnosis. Results: A 44-year-old woman presented with blurred vision and floaters in both eyes (OU) for 1 year. The vitreous showed numerous strand-like opacities that were predominant in the anterior vitreous of OU. After a systemic workup and excluding malignancy, vitreous amyloidosis was suspected. Pars plana vitrectomy (PPV) of the left eye (OS) was performed, and a vitreous sample was obtained for histopathology. Homogeneous eosinophilic granular and filamentous deposits that showed an orange-red color with Congo red special stain were observed in the vitreous material, confirming vitreous amyloidosis. A PPV for the right eye (OD) was performed, and her vision at discharge was 20/20 OU. Systemic evaluation discarded neurologic or other systemic manifestations; however, there was familiar involvement in three generations with neurologic symptomatology, confirming an autosomal dominant inheritance pattern. Molecular analysis of the Conclusions: The present report describes a patient with ATTRv amyloidosis with initial vitreous involvement and the pathogenic variant Ile107Met (p.Ile127Met). It is important to consider vitreous amyloidosis as part of the non-malignant, non-infectious uveitis masquerade syndromes.
MeSH term(s)	Adult ; Amyloid Neuropathies, Familial/complications ; Amyloid Neuropathies, Familial/diagnosis ; Amyloid Neuropathies, Familial/genetics ; Eye Diseases/etiology ; Eye Diseases/genetics ; Female ; Humans ; Prealbumin/genetics ; Prealbumin/metabolism ; Vitreous Body/pathology
Chemical Substances	Prealbumin
Language	English
Publishing date	2022-01-17
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2022.2025606
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Article ; Online: Elucidating the Structural Basis of the Intracellular pH Sensing Mechanism of TASK-2 K 2 P Channels

Daniel Bustos / Mauricio Bedoya / David Ramírez / Guierdy Concha / Leandro Zúñiga / Niels Decher / Erix W. Hernández-Rodríguez / Francisco V. Sepúlveda / Leandro Martínez / Wendy González

International Journal of Molecular Sciences, Vol 21, Iss 2, p

2020 Volume 532

Abstract: Two-pore domain potassium (K 2 P) channels maintain the cell’s background conductance ... in each subunit. K 2 P channels were crystallized in “up” and “down” states. The movements of the pore-lining ... in the down-state. It is thought that the fenestration states are related to the activity of K 2 P channels ...

Abstract	Two-pore domain potassium (K 2 P) channels maintain the cell’s background conductance by stabilizing the resting membrane potential. They assemble as dimers possessing four transmembrane helices in each subunit. K 2 P channels were crystallized in “up” and “down” states. The movements of the pore-lining transmembrane TM4 helix produce the aperture or closure of side fenestrations that connect the lipid membrane with the central cavity. When the TM4 helix is in the up-state, the fenestrations are closed, while they are open in the down-state. It is thought that the fenestration states are related to the activity of K 2 P channels and the opening of the channels preferentially occurs from the up-state. TASK-2, a member of the TALK subfamily of K 2 P channels, is opened by intracellular alkalization leading the deprotonation of the K245 residue at the end of the TM4 helix. This charge neutralization of K245 could be sensitive or coupled to the fenestration state. Here, we describe the relationship between the states of the intramembrane fenestrations and K245 residue in TASK-2 channel. By using molecular modeling and simulations, we show that the protonated state of K245 (K245 + ) favors the open fenestration state and, symmetrically, that the open fenestration state favors the protonated state of the lysine residue. We show that the channel can be completely blocked by Prozac, which is known to induce fenestration opening in TREK-2. K245 protonation and fenestration aperture have an additive effect on the conductance of the channel. The opening of the fenestrations with K245 + increases the entrance of lipids into the selectivity filter, blocking the channel. At the same time, the protonation of K245 introduces electrostatic potential energy barriers to ion entrance. We computed the free energy profiles of ion penetration into the channel in different fenestration and K245 protonation states, to show that the effects of the two transformations are summed up, leading to maximum channel blocking. Estimated rates of ...
Keywords	k 2 p channels ; task-2 channels ; structure–function relationships ; homology modeling ; modeling of protein dynamics ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	290
Language	English
Publishing date	2020-01-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Romero-González, Gustavo A / Carnevali Fernández-Concha, German

(Orchids of Venezuela ; : an illustrated field guide / Gustavo A. Romero-González ; German Carnevali Fernández-Concha [Bd.3])

2000

Title variant	Orquideas de Venezuela
Series title	Orchids of Venezuela : an illustrated field guide / Gustavo A. Romero-González ; German Carnevali Fernández-Concha [Bd.3]
Language	Spanish
Size	S. 718 - 1155, überw. Ill.
Edition	2. ed
Publisher	Armitano
Publishing place	Caracas
Document type	Book
ISBN	9802161888 ; 9789802161881
Database	Former special subject collection: coastal and deep sea fishing

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Article: 5'-p-Fluorosulfonyl benzoyl adenosine inhibits an ecto-ATP-diphosphohydrolase in the tegument surface of Taenia crassiceps cysticerci.

Guevara-Flores, Alberto / Olvera-Sánchez, Sofía / Gómez-Concha, Cuauhtemoc / Juárez, Oscar / Esparza-Perusquía, Mercedes / Pardo, Juan P / Mendoza-Hernández, Guillermo / Martínez, Federico / Flores-Herrera, Oscar

Molecular and biochemical parasitology

2008 Volume 162, Issue 2, Page(s) 123–133

Abstract: The tegumental membrane of Taenia crassiceps cysticerci contains an ATP-diphosphohydrolase (EC 3.6.1.5) which hydrolyzes purine and pyrimidine nucleoside 5'-di- and 5'-triphosphates at an optimum pH of 8.5. It is Mg(2+)-dependent and insensitive to ... ...

Abstract	The tegumental membrane of Taenia crassiceps cysticerci contains an ATP-diphosphohydrolase (EC 3.6.1.5) which hydrolyzes purine and pyrimidine nucleoside 5'-di- and 5'-triphosphates at an optimum pH of 8.5. It is Mg(2+)-dependent and insensitive to classical ATPase and phosphatase inhibitors. In solubilized tegumental membrane the Km values varied from 220 to 480 microM and the V(max) from 370 to 748 nmol of Pi release/mg/min for nucleoside triphosphates (ATP, GTP, CTP, UTP, and TTP); for nucleoside diphosphates (ADP, GDP, CDP, and UDP) the Km values were from 260 to 450 microM and the V(max) from 628 to 1134 nmol of Pi release/mg/min. An antibody specific to CD39 shows cross-reactivity with T. crassiceps ATP-diphosphohydrolase, revealing a single protein of approximately 80 kDa. Incubation of ATP-diphosphohydrolase with FSBA inhibited ATPase and ADPase activities by 85-90%. Immunoblot analyses, the competition plot, similar inhibition by free nucleotides, the lack of effect of Mg(2+) at high concentrations, and the inactivation by FSBA of ATPase and ADPase activity strongly suggest that a single enzyme catalyzes the hydrolysis of all these nucleotides. The mechanism of ATP hydrolysis shows that ATP-diphosphohydrolase releases ADP during the catalytic cycle. Incubation of intact cysticerci with FSBA caused 70-80% inhibition of ATPase and ADPase activities, indicating that the active site of the ATP-diphosphohydrolase is oriented to the external surface of the tegument of T. crassiceps. The importance of this enzyme in the parasite-host relationship is discussed.
MeSH term(s)	Adenosine/analogs & derivatives ; Adenosine/pharmacology ; Affinity Labels/pharmacology ; Animals ; Antigens, CD/chemistry ; Antigens, CD/metabolism ; Apyrase/antagonists & inhibitors ; Apyrase/chemistry ; Apyrase/metabolism ; Enzyme Inhibitors/pharmacology ; Hydrogen-Ion Concentration ; Kinetics ; Taenia/drug effects ; Taenia/enzymology ; Taenia/metabolism
Chemical Substances	Affinity Labels ; Antigens, CD ; Enzyme Inhibitors ; 5'-(4-fluorosulfonylbenzoyl)adenosine (78859-42-4) ; Apyrase (EC 3.6.1.5) ; CD39 antigen (EC 3.6.1.5) ; Adenosine (K72T3FS567)
Language	English
Publishing date	2008-12
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	756166-0
ISSN	1872-9428 ; 0166-6851
ISSN (online)	1872-9428
ISSN	0166-6851
DOI	10.1016/j.molbiopara.2008.08.002
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Article: 5'-p-Fluorosulfonyl benzoyl adenosine inhibits an ecto-ATP-diphosphohydrolase in the tegument surface of Taenia crassiceps cysticerci

Molecular and biochemical parasitology. 2008 Dec., v. 162, no. 2

2008

Abstract	The tegumental membrane of Taenia crassiceps cysticerci contains an ATP-diphosphohydrolase (EC 3.6.1.5) which hydrolyzes purine and pyrimidine nucleoside 5'-di- and 5'-triphosphates at an optimum pH of 8.5. It is Mg²⁺-dependent and insensitive to classical ATPase and phosphatase inhibitors. In solubilized tegumental membrane the Km values varied from 220 to 480μM and the V max from 370 to 748nmol of Pi release/mg/min for nucleoside triphosphates (ATP, GTP, CTP, UTP, and TTP); for nucleoside diphosphates (ADP, GDP, CDP, and UDP) the Km values were from 260 to 450μM and the V max from 628 to 1134nmol of Pi release/mg/min. An antibody specific to CD39 shows cross-reactivity with T. crassiceps ATP-diphosphohydrolase, revealing a single protein of ~80kDa. Incubation of ATP-diphosphohydrolase with FSBA inhibited ATPase and ADPase activities by 85-90%. Immunoblot analyses, the competition plot, similar inhibition by free nucleotides, the lack of effect of Mg²⁺ at high concentrations, and the inactivation by FSBA of ATPase and ADPase activity strongly suggest that a single enzyme catalyzes the hydrolysis of all these nucleotides. The mechanism of ATP hydrolysis shows that ATP-diphosphohydrolase releases ADP during the catalytic cycle. Incubation of intact cysticerci with FSBA caused 70-80% inhibition of ATPase and ADPase activities, indicating that the active site of the ATP-diphosphohydrolase is oriented to the external surface of the tegument of T. crassiceps. The importance of this enzyme in the parasite-host relationship is discussed.
Keywords	Taenia crassiceps ; active sites ; adenosine ; adenosine diphosphate ; adenosine triphosphate ; adenosinetriphosphatase ; antibodies ; apyrase ; cross reaction ; cysticerci ; guanosine triphosphate ; hydrolysis ; magnesium ; pH ; solubilization ; uridine diphosphate ; uridine triphosphate
Language	English
Dates of publication	2008-12
Size	p. 123-133.
Publishing place	Amsterdam: Elsevier
Document type	Article
ZDB-ID	756166-0
ISSN	1872-9428 ; 0166-6851
ISSN (online)	1872-9428
ISSN	0166-6851
DOI	10.1016/j.molbiopara.2008.08.002
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Symptoms and problems reported by patients with non-cancer diseases through open-ended questions in specialist palliative care: a national register-based study.

Rojas-Concha, Leslye / Hansen, Maiken Bang / Groenvold, Mogens

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer

2024 Volume 32, Issue 2, Page(s) 141

Abstract: Purpose: Since 2010, a comprehensive symptom/problem (S/P) assessment has been carried out ... the EORTC QLQ-C15-PAL, 812 (34.9%) reported at least one S/P using WISP. A total of 1340 S/Ps were reported ...

Abstract	Purpose: Since 2010, a comprehensive symptom/problem (S/P) assessment has been carried out in Danish specialist palliative care using the EORTC QLQ-C15-PAL questionnaire and the open-ended "Write In three Symptoms/Problems" (WISP) instrument. On WISP patients can report up to three S/Ps not included in the EORTC QLQ-C15-PAL. However, little is known about which S/Ps patients with non-cancer diseases report using WISP. Therefore, we investigated the prevalence and severity of S/Ps reported on WISP by non-cancer patients in specialist palliative care and compared these S/Ps with those previously reported by cancer patients. Methods: This register-based study collected data from the Danish Palliative Care Database. We included adult patients with non-cancer diseases answering the EORTC QLQ-C15-PAL at admittance to specialist palliative care between 2016 and 2021. WISP responses were qualitatively categorized, and their prevalence and severity calculated. Results: Of the 2323 patients with non-cancer diseases answering the EORTC QLQ-C15-PAL, 812 (34.9%) reported at least one S/P using WISP. A total of 1340 S/Ps were reported on WISP, of which 56.7% were not included in the EORTC QLQ-C15-PAL (i.e., were new). Edema, existential problems, dizziness, cough, and dysphagia were the most prevalent new S/Ps. Overall, 88.7% of the S/Ps were scored as moderate-severe. The prevalence of S/Ps reported on WISP did not significantly differ between cancer and non-cancer patients, except for existential problems, dysphagia, myoclonus, speaking problems, sweats, and vomiting. Conclusion: The similarities and differences in the prevalence of the most common S/Ps reported on WISP confirm that WISP improves symptom assessment regardless of patient diagnosis.
MeSH term(s)	Adult ; Humans ; Palliative Care ; Neoplasms/therapy ; Quality of Life ; Deglutition Disorders ; Hospice and Palliative Care Nursing ; Surveys and Questionnaires
Language	English
Publishing date	2024-02-02
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1134446-5
ISSN	1433-7339 ; 0941-4355
ISSN (online)	1433-7339
ISSN	0941-4355
DOI	10.1007/s00520-024-08345-1
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Article ; Online: Elevated temperature extraction of β-carotene from freeze-dried carrot powder into sunflower oil: Extraction kinetics and thermal stability.

Kumar, Rahul / Oruna-Concha, Maria Jose / Balagiannis, Dimitris P / Niranjan, Keshavan

Journal of food science

2024 Volume 89, Issue 3, Page(s) 1642–1657

Abstract: β-Carotene, a precursor of vitamin A, can alleviate the deficiency of this vitamin prevalent worldwide. Earlier research studies have addressed the extraction of β-carotene at relatively low temperatures (up to 70°C) due to its perceived instability at ... ...

Abstract	β-Carotene, a precursor of vitamin A, can alleviate the deficiency of this vitamin prevalent worldwide. Earlier research studies have addressed the extraction of β-carotene at relatively low temperatures (up to 70°C) due to its perceived instability at higher temperatures, as a result of which extraction rates recorded are relatively low. This study models the net rate of β-carotene extraction by considering both extraction and degradation kinetics. The model developed, which accounts for degradation occurring in solid and extract phases, has been experimentally validated for the extraction of β-carotene from freeze-dried carrot powder into sunflower oil over a range of temperatures 90-150°C. This study also gives insights into the application of sunflower oil as a carrier for β-carotene during cooking and food processing, by monitoring and modeling the thermal degradation and isomerization of β-carotene at temperatures up to 220°C. The modeling of extraction kinetics shows that it is possible to achieve viable extraction rates by employing temperatures in the range (90-150°C) for relatively short times (<5 min). The degradation kinetics shows that almost 75% of the β-carotene can survive heating at 180°C for 10 min-indicating the possibility of using β-carotene enriched edible oils for frying. This study also reports on the formation of three isomers of β-carotene identified using HPLC: trans-, 9-cis, and 13-cis. The reaction network model developed in this study was able to account for the transient variation of the concentration of all three isomers. PRACTICAL APPLICATION: β-Carotene is a precursor of vitamin A and its consumption can potentially alleviate the deficiency of this vitamin prevalent worldwide. This study validates a model for the extraction of β-carotene in sunflower oil, which takes into account extraction as well as degradation occurring during extraction, so that a rational method is available for the design of efficient extractors for this purpose. This paper also establishes the thermal stability of β-carotene under frying conditions by quantifying its thermal degradation as well as isomerization.
MeSH term(s)	beta Carotene/metabolism ; Vitamin A ; Sunflower Oil ; Daucus carota ; Powders ; Temperature ; Vitamins ; Kinetics
Chemical Substances	beta Carotene (01YAE03M7J) ; Vitamin A (11103-57-4) ; Sunflower Oil ; Powders ; Vitamins
Language	English
Publishing date	2024-02-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	241615-3
ISSN	1750-3841 ; 0022-1147
ISSN (online)	1750-3841
ISSN	0022-1147
DOI	10.1111/1750-3841.16964
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Article ; Online: Priority pesticides in Chile: Predicting their environmental distribution, bioaccumulation, and transport potential.

Concha, Carolina / Manzano, Carlos A

Integrated environmental assessment and management

2022 Volume 19, Issue 3, Page(s) 676–683

Abstract: ... long-range transport potential in the environment. The results were used to develop a P-B-lon range transport (LRT ... the longest half-lives and bioaccumulation potential. A group of 21 pesticides showed relatively high P-B-LRT ...

Abstract	Agriculture is one of the main economic activities in Chile and is associated with extensive use of pesticides, which can represent a risk to the environment and to human health. Currently, there are over 400 pesticides approved for commerce in Chile, including chemicals banned in other countries (e.g., flocoumafen and chlorfenapyr). An empirical analysis of their potential environmental effects is difficult due to this large number, thus opening the doors for the use of computational tools for prioritization efforts based on their persistence, bioaccumulation, and transport potential in the environment. The main objectives of this study were to estimate the properties and environmental distribution of pesticides approved for commerce in Chile and to generate a priority list for further evaluation in local environments. We used the Estimation Program Interface Suite interface to estimate the distribution coefficients, half-lives, and bioaccumulation potential of all pesticides registered in the Chilean Agriculture and Livestock Services. Additionally, the Pov & LRTP Screening Tool was used to estimate their overall persistence and long-range transport potential in the environment. The results were used to develop a P-B-lon range transport (LRT) score, which considered persistence, bioaccumulation, and long-range transport potential. All pesticides were compared to a group of polychlorinated biphenyls (PCBs), used as reference compounds, to generate a list of priority pesticides with persistent organic pollutants characteristics. The results showed that most pesticides were distributed between the organic phase and water, where they also showed the longest half-lives and bioaccumulation potential. A group of 21 pesticides showed relatively high P-B-LRT scores, compared to PCBs, and were classified as priority compounds. The list was further refined based on the volume of sales for each pesticide. Integr Environ Assess Manag 2023;19:676-683. © 2022 The Authors. Integrated Environmental Assessment and Management published by Wiley Periodicals LLC on behalf of Society of Environmental Toxicology & Chemistry (SETAC).
MeSH term(s)	Humans ; Pesticides/analysis ; Polychlorinated Biphenyls ; Bioaccumulation ; Chile ; Agriculture ; Environmental Monitoring/methods
Chemical Substances	Pesticides ; Polychlorinated Biphenyls (DFC2HB4I0K)
Language	English
Publishing date	2022-10-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	2234931-5
ISSN	1551-3793 ; 1551-3777
ISSN (online)	1551-3793
ISSN	1551-3777
DOI	10.1002/ieam.4680
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Article ; Online: Author Correction: Intrinsic chiral field as vector potential of the magnetic current in the zig-zag lattice of magnetic dipoles.

Mellado, Paula / Concha, Andrés / Hofhuis, Kevin / Tapia, Ignacio

Scientific reports

2023 Volume 13, Issue 1, Page(s) 2667

Language	English
Publishing date	2023-02-15
Publishing country	England
Document type	Published Erratum
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-023-29687-6
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Article ; Online: Intrinsic chiral field as vector potential of the magnetic current in the zig-zag lattice of magnetic dipoles.

Mellado, Paula / Concha, Andrés / Hofhuis, Kevin / Tapia, Ignacio

Scientific reports

2023 Volume 13, Issue 1, Page(s) 1245

Abstract: Chiral magnetic insulators manifest novel phases of matter where the sense of rotation of the magnetization is associated with exotic transport phenomena. Effective control of such phases and their dynamical evolution points to the search and study of ... ...

Abstract	Chiral magnetic insulators manifest novel phases of matter where the sense of rotation of the magnetization is associated with exotic transport phenomena. Effective control of such phases and their dynamical evolution points to the search and study of chiral fields like the Dzyaloshinskii-Moriya interaction. Here we combine experiments, numerics, and theory to study a zig-zag dipolar lattice as a model of an interface between magnetic in-plane layers with a perpendicular magnetization. The zig-zag lattice comprises two parallel sublattices of dipoles with perpendicular easy plane of rotation. The dipolar energy of the system is exactly separable into a sum of symmetric and antisymmetric long-range exchange interactions between dipoles, where the antisymmetric coupling generates a nonlocal Dzyaloshinskii-Moriya field which stabilizes winding textures with the form of chiral solitons. The Dzyaloshinskii-Moriya interaction acts as a vector potential or gauge field of the magnetic current and gives rise to emergent magnetic and electric fields that allow the manifestation of the magnetoelectric effect in the system.
MeSH term(s)	Electricity ; Physical Phenomena ; Rotation
Language	English
Publishing date	2023-01-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-023-28545-9
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