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Article ; Online: CNKSR2-Related Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Report of Two Additional Cases and Review of the Literature.

Whitney, Robyn / Go, Cristina / Abushama, Ahmed / Jain, Puneet

2024 Volume 72, Issue 1, Page(s) 129–137

Abstract: CNKSR2 variants have been associated with X linked intellectual disability and epilepsy including developmental and epileptic encephalopathy with spike wave activation in sleep (D/EE SWAS) in males. We aimed to describe a sibling pair with a novel ... ...

Abstract	CNKSR2 variants have been associated with X linked intellectual disability and epilepsy including developmental and epileptic encephalopathy with spike wave activation in sleep (D/EE SWAS) in males. We aimed to describe a sibling pair with a novel pathogenic variant in CNKSR2 with D/EE SWAS and review published cases of D/EE SWAS. A retrospective chart review and a comprehensive review of the literature were conducted. Two brothers with a novel pathogenic variant in the CNKSR2 gene (c. 114delG, p.Ile39SerfsX14) were identified. The epilepsy phenotype was similar to previous cases and was characterized by early onset seizures, nocturnal seizures (focal motor with/without impaired awareness), global developmental delay and language impairment, frontal central temporal predominant epileptiform discharges with a spike wave index >95%, and treatment resistance. However, phenotypic variability was observed and the younger brother had milder neuro developmental impairment, and the diagnosis of D/EE SWAS was made by surveillance electro encephalogram (EEG). Literature search yielded 23 cases, and their clinical/neuro physiological features are discussed. To conclude, CNKSR2 related D/EE SWAS may be early onset and occur before the age of 5 years in some. Early surveillance EEG may aid in diagnosis. Phenotypic variability was observed in our cases as well as sibling pairs in the literature, which may impact genetic counseling.
MeSH term(s)	Male ; Humans ; Child, Preschool ; Retrospective Studies ; Epilepsy, Generalized ; Intellectual Disability ; Sleep ; Seizures ; Adaptor Proteins, Signal Transducing
Chemical Substances	CNKSR2 protein, human ; Adaptor Proteins, Signal Transducing
Language	English
Publishing date	2024-02-29
Publishing country	India
Document type	Review ; Journal Article
ZDB-ID	415522-1
ISSN	1998-4022 ; 0028-3886
ISSN (online)	1998-4022
ISSN	0028-3886
DOI	10.4103/ni.ni_1191_21
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Zs.A 698: Show issues

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Article ; Online: Involvement of TLR9 in priming the immune response in oral papillomatosis induced by low-risk HPV.

Andrei, Elena Cristina / Munteanu, Maria Cristina / Busuioc, Cristina Jana / Pisoschi, Cătălina Gabriela / Mateescu, Garofiţa Olivia / Drăcea, Sanda Amelia / Baniţă, Ileana Monica

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

2023 Volume 64, Issue 2, Page(s) 181–188

Abstract: Oral papillomatosis represents a benign lesion of the oral mucosa often induced by human papillomavirus (HPV) or having a non-infection local or general etiology. HPVs are very well adapted and efficient viruses able to produce changes in the immune ... ...

Abstract	Oral papillomatosis represents a benign lesion of the oral mucosa often induced by human papillomavirus (HPV) or having a non-infection local or general etiology. HPVs are very well adapted and efficient viruses able to produce changes in the immune system, endowed with the ability to replicate in the keratinocytes and to remain silent. The natural evolution of HPV infection is different, depending on the efficiency of the innate immune system. The purpose of this study was to explore Toll-like receptor 9 (TLR9) immunohistochemical expression in low-risk (LR)-HPV oral infection and its ability to facilitate an efficient immune response by activating the macrophages, which serve as main antigen-presenting cells. Samples of two groups of oral mucosae - LR-HPV-positive and HPV-negative - were processed for immunohistochemistry technique and incubated with antibody against TLR9 and cluster of differentiation 68 (CD68). Image analysis and morphometry were conducted to assess the intensity of TLR9 immune signal in the epithelium and the number of macrophages labeled by CD68. We found a statistically significant difference between macrophage count for the subjects in HPV-positive and HPV-negative groups; thought no significant differences of TLR9 immune signal was noted, which demonstrates a diminished immune response in HPV-positive group, probably influencing the time of lesion's clearance.
MeSH term(s)	Humans ; Toll-Like Receptor 9/metabolism ; Papillomavirus Infections/complications ; Keratinocytes/metabolism ; Immunity ; Papilloma/metabolism ; Papillomaviridae
Chemical Substances	Toll-Like Receptor 9 ; TLR9 protein, human
Language	English
Publishing date	2023-07-15
Publishing country	Romania
Document type	Journal Article
ZDB-ID	1062519-7
ISSN	2066-8279 ; 1220-0522 ; 0035-4007
ISSN (online)	2066-8279
ISSN	1220-0522 ; 0035-4007
DOI	10.47162/RJME.64.2.08
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Zs.A 1105: Show issues

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Article ; Online: Electrochemical System for Field Control of Hg

Tenea, Anda-Gabriela / Dinu, Cristina / Buica, George-Octavian / Vasile, Gabriela-Geanina

Sensors (Basel, Switzerland)

2023 Volume 23, Issue 3

Abstract: The paper presents the validation of an electrochemical procedure for on-site ... ...

Abstract	The paper presents the validation of an electrochemical procedure for on-site Hg
Language	English
Publishing date	2023-01-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2052857-7
ISSN	1424-8220 ; 1424-8220
ISSN (online)	1424-8220
ISSN	1424-8220
DOI	10.3390/s23031084
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Article ; Online: An Unusual Cause of Worsening Obstructive Sleep Apnea.

Sunkonkit, Kanokkarn / Go, Cristina / Alzaid, Mohammed / Massicotte, Colin / Narang, Indra / Amin, Reshma

Clinical pediatrics

2022 Volume 62, Issue 3, Page(s) 188–190

MeSH term(s)	Humans ; Sleep Apnea, Obstructive/complications ; Sleep Apnea, Obstructive/diagnosis
Language	English
Publishing date	2022-08-25
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207678-0
ISSN	1938-2707 ; 0009-9228
ISSN (online)	1938-2707
ISSN	0009-9228
DOI	10.1177/00099228221118957
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Zs.A 454: Show issues

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Article: From Plants to Wound Dressing and Transdermal Delivery of Bioactive Compounds.

Isopencu, Gabriela Olimpia / Covaliu-Mierlă, Cristina-Ileana / Deleanu, Iuliana-Mihaela

Plants (Basel, Switzerland)

2023 Volume 12, Issue 14

Abstract: Transdermal delivery devices and wound dressing materials are constantly improved and upgraded with the aim of enhancing their beneficial effects, biocompatibility, biodegradability, and cost effectiveness. Therefore, researchers in the field have shown ... ...

Abstract	Transdermal delivery devices and wound dressing materials are constantly improved and upgraded with the aim of enhancing their beneficial effects, biocompatibility, biodegradability, and cost effectiveness. Therefore, researchers in the field have shown an increasing interest in using natural compounds as constituents for such systems. Plants, as an important source of so-called "natural products" with an enormous variety and structural diversity that still exceeds the capacity of present-day sciences to define or even discover them, have been part of medicine since ancient times. However, their benefits are just at the beginning of being fully exploited in modern dermal and transdermal delivery systems. Thus, plant-based primary compounds, with or without biological activity, contained in gums and mucilages, traditionally used as gelling and texturing agents in the food industry, are now being explored as valuable and cost-effective natural components in the biomedical field. Their biodegradability, biocompatibility, and non-toxicity compensate for local availability and compositional variations. Also, secondary metabolites, classified based on their chemical structure, are being intensively investigated for their wide pharmacological and toxicological effects. Their impact on medicine is highlighted in detail through the most recent reported studies. Innovative isolation and purification techniques, new drug delivery devices and systems, and advanced evaluation procedures are presented.
Language	English
Publishing date	2023-07-16
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2704341-1
ISSN	2223-7747
ISSN	2223-7747
DOI	10.3390/plants12142661
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Article ; Online: Logical model of reception and risk classification for women with pre-eclampsia and eclampsia.

Silva, Sandra Cristina de Souza Borges / Brandão, Paula Soares / Cardoso, Gisela Cordeiro Pereira / Paes, Graciele Oroski / Trotte, Liana Amorim Correa / Stipp, Marluci Andrade Conceição

Revista da Escola de Enfermagem da U S P

2024 Volume 57, Page(s) e20230264

Abstract: Objective: To describe the validation of the Logical Model of Reception and Risk Classification for women with pre-eclampsia/eclampsia in a high-risk maternity hospital.: Method: Evaluative research with a quantitative approach. The elaboration and ... ...

Abstract	Objective: To describe the validation of the Logical Model of Reception and Risk Classification for women with pre-eclampsia/eclampsia in a high-risk maternity hospital. Method: Evaluative research with a quantitative approach. The elaboration and validation of the Logical Model were systematized in stages related to the scope review, preparation of the document guided by the Donabedian model and validation by 12 stakeholders, aiming at the assessment of the Content Validation Index. Results: The problem that gave rise to the intervention was elaborated, supporting the construction of the Logical Model. Agreement was reached on 24 items, reaching a Content Validation Index of 0.99. Stakeholders included contributions regarding correlations between elements of the structure and process. Conclusion: The document achieved high content validity and could contribute to decision-making by managers in the Reception and Risk Classification sectors for women with pre-eclampsia and/or eclampsia.
MeSH term(s)	Pregnancy ; Female ; Humans ; Pre-Eclampsia ; Eclampsia
Language	Portuguese
Publishing date	2024-02-02
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	2411320-7
ISSN	1980-220X ; 1980-220X
ISSN (online)	1980-220X
ISSN	1980-220X
DOI	10.1590/1980-220X-REEUSP-2023-0264en
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Article ; Online: Oral Papillomatosis: Its Relation with Human Papilloma Virus Infection and Local Immunity-An Update.

Andrei, Elena Cristina / Baniță, Ileana Monica / Munteanu, Maria Cristina / Busuioc, Cristina Jana / Mateescu, Garofița Olivia / Mălin, Ramona Denise / Pisoschi, Cătălina Gabriela

Medicina (Kaunas, Lithuania)

2022 Volume 58, Issue 8

Abstract: Oral papilloma lesions may appear as a result of HPV infection, or not, and only special molecular methods could differentiate them. Low-risk and high-risk HPV types could induce oral HPV papillomatosis with different natural evolution, clearance and ... ...

Abstract	Oral papilloma lesions may appear as a result of HPV infection, or not, and only special molecular methods could differentiate them. Low-risk and high-risk HPV types could induce oral HPV papillomatosis with different natural evolution, clearance and persistence mechanisms. The pathogenic mechanisms are based on the crosstalk between the oral epithelial and immune cells and this very efficient virus. HPV acts as a direct inducer in the process of transforming a benign lesion into a malignant one, the cancerization process being also debated in this paper. According to the degree of malignity, three types of papillomatous lesions can be described in the oral cavity: benign lesions, potential malign disorders and malignant lesions. The precise molecular diagnostic is important to identify the presence of various virus types and also the virus products responsible for its oncogenicity. An accurate diagnostic of oral papilloma can be established through a good knowledge of etiological and epidemiological factors, clinical examination and laboratory tests. This review intends to update the pathogenic mechanisms driving the macroscopic and histological features of oral papillomatosis having HPV infection as the main etiological factor, focusing on its interreference in the local immunity. In the absence of an accurate molecular diagnostic and knowledge of local immunological conditions, the therapeutic strategy could be difficult to decide.
MeSH term(s)	Humans ; Mouth Neoplasms/etiology ; Mouth Neoplasms/pathology ; Papilloma/diagnosis ; Papilloma/pathology ; Papillomaviridae ; Papillomavirus Infections/complications
Language	English
Publishing date	2022-08-15
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2188113-3
ISSN	1648-9144 ; 1010-660X
ISSN (online)	1648-9144
ISSN	1010-660X
DOI	10.3390/medicina58081103
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Zs.A 6270: Show issues

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Article ; Online: LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America.

Vélez-GóMEZ, Beatriz / Perna, Abayuba / Vazquez, Cristina / Ketzoian, Carlos / Lillo, Patricia / Godoy-Reyes, Gladys / Sáez, David / Zaldivar Vaillant, Tatiana / Gutiérrez Gil, Joel Víctor / Lara-Fernández, Gloria Esther / Povedano, Mónica / Heverin, Mark / McFarlane, Robert / Logroscino, Giancarlo / Hardiman, Orla

Amyotrophic lateral sclerosis & frontotemporal degeneration

2024 Volume 25, Issue 1-2, Page(s) 119–127

Abstract: Objective: The Latin American Epidemiologic study of ALS (LAENALS) aims to gather data on ALS epidemiology, phenotype, and risk factors in Cuba, Chile, and Uruguay, to understand the impact of genetic and environmental factors on ALS.: Methods: A ... ...

Abstract	Objective: The Latin American Epidemiologic study of ALS (LAENALS) aims to gather data on ALS epidemiology, phenotype, and risk factors in Cuba, Chile, and Uruguay, to understand the impact of genetic and environmental factors on ALS. Methods: A harmonized data collection protocol was generated, and a Latin-American Spanish language Register was constructed. Patient data were collected in Uruguay in 2018, in Chile from 2017 to 2019, and in Cuba between 2017 and 2018. Statistical analysis was performed using SPSS 25.0.0 software. Crude cumulative incidence, standardized incidence, and prevalence were calculated in the population aged 15 years and older. Results: During 2017-2019, 90 people with ALS from Uruguay (55.6% men), 219 from Chile (54.6% men), and 49 from Cuba (55.1% men) were included. The cumulative crude incidence in 2018 was 1.73/100,000 persons in Uruguay, 1.08 in Chile and 0.195 in Cuba. Crude prevalence in 2018 was 2.19 per 100,000 persons in Uruguay, 1.39 in Chile and 0.55 in Cuba. Mean age at onset was 61.8 ± 11.96 SD years in Uruguay, 61.9 ± 10.4 SD years in Chile, and 60.21 ± 12.45 SD years in Cuba ( Conclusions: These preliminary data from LAENALS confirm the lower incidence and prevalence of ALS in counties with admixed populations. The LAENALS database is now open to other Latin American countries for harmonized prospective data collection.
MeSH term(s)	Male ; Humans ; Female ; Latin America/epidemiology ; Amyotrophic Lateral Sclerosis/diagnosis ; Amyotrophic Lateral Sclerosis/epidemiology ; Cuba/epidemiology ; Uruguay/epidemiology ; Prevalence
Language	English
Publishing date	2024-01-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2705049-X
ISSN	2167-9223 ; 2167-8421
ISSN (online)	2167-9223
ISSN	2167-8421
DOI	10.1080/21678421.2023.2271517
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Zs.A 5874: Show issues

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Article ; Online: Stain normalization using score-based diffusion model through stain separation and overlapped moving window patch strategies.

Jeong, Jiheon / Kim, Ki Duk / Nam, Yujin / Cho, Cristina Eunbee / Go, Heounjeong / Kim, Namkug

Computers in biology and medicine

2022 Volume 152, Page(s) 106335

Abstract: Hematoxylin and eosin (H&E) staining is the gold standard modality for diagnosis in medicine. However, the dosage ratio of hematoxylin to eosin in H&E staining has not been standardized yet. Additionally, H&E stains fade out at various speeds. Therefore, ...

Abstract	Hematoxylin and eosin (H&E) staining is the gold standard modality for diagnosis in medicine. However, the dosage ratio of hematoxylin to eosin in H&E staining has not been standardized yet. Additionally, H&E stains fade out at various speeds. Therefore, the staining quality could differ among each image, and stain normalization is a critical preprocessing approach for training deep learning (DL) models, especially in long-term and/or multicenter digital pathology studies. However, conventional methods for stain normalization have some significant drawbacks, such as collapsing in the structure and/or texture of tissue. In addition, conventional methods must require a reference patch or slide. Meanwhile, DL-based methods have a risk of overfitting and/or grid artifacts. We developed a score-based diffusion model of colorization for stain normalization. However, mistransfer, in which the model confuses hematoxylin with eosin, can occur using a score-based diffusion model due to its high diversity nature. To overcome this mistransfer, we propose a stain separation method using sparse non-negative matrix factorization (SNMF), which can decompose pathology slide into Hematoxylin and Eosin to normalize each stain component. Furthermore, inpainting with overlapped moving window patches was used to prevent grid artifacts of whole slide image normalization. Our method can normalize the whole slide pathology images through this stain normalization pipeline with decent performance.
MeSH term(s)	Coloring Agents/chemistry ; Hematoxylin ; Eosine Yellowish-(YS) ; Staining and Labeling ; Algorithms
Chemical Substances	Coloring Agents ; Hematoxylin (YKM8PY2Z55) ; Eosine Yellowish-(YS) (TDQ283MPCW)
Language	English
Publishing date	2022-11-28
Publishing country	United States
Document type	Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	127557-4
ISSN	1879-0534 ; 0010-4825
ISSN (online)	1879-0534
ISSN	0010-4825
DOI	10.1016/j.compbiomed.2022.106335
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Article: Effects of 2,4-dichlorophenol on non-specific immunity, histopathological lesions, and redox balance in African Catfish,

Imade, Osayimwen / Ilesanmi, Bobola V / Ogunwole, Germaine O / Elekofehinti, Olusola O / Souza, Marília Cristina Oliveira / Barbosa, Fernando / Adedire, Chris O / Adeyemi, Joseph A

Journal of toxicology and environmental health. Part A

2024 Volume 87, Issue 11, Page(s) 480–495

Abstract: The toxic effects of 2, 4-dichlorophenol (2, 4-DCP) on aquatic organisms are well-established; however, the details regarding the mechanisms underlying the toxicity, especially immunotoxicity are poorly understood. Consequently, the aim of this study was ...

Abstract	The toxic effects of 2, 4-dichlorophenol (2, 4-DCP) on aquatic organisms are well-established; however, the details regarding the mechanisms underlying the toxicity, especially immunotoxicity are poorly understood. Consequently, the aim of this study was to investigate the histopathologic, oxidative stress and immunotoxic effects attributed to exposure to sublethal concentrations of 2,4-DCP in the African catfish,
MeSH term(s)	Animals ; Catfishes/metabolism ; Water Pollutants, Chemical/toxicity ; Water Pollutants, Chemical/metabolism ; Oxidative Stress ; Lipid Peroxidation ; Immunity, Innate ; Chlorophenols
Chemical Substances	2,4-dichlorophenol (R669TG1950) ; Water Pollutants, Chemical ; Chlorophenols
Language	English
Publishing date	2024-04-09
Publishing country	England
Document type	Journal Article
ZDB-ID	1413345-3
ISSN	1528-7394 ; 0098-4108 ; 1087-2620
ISSN	1528-7394 ; 0098-4108 ; 1087-2620
DOI	10.1080/15287394.2024.2339538
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