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Article ; Online: Davis, J. Colin; Burdiel, Isabel (eds.). El otro, el mismo. Biografía y autobiografía en Europa (siglos XVII-XX)

Micaela Yunis

Páginas, Vol 4, Iss

2012 Volume 6

Keywords	Latin America. Spanish America ; F1201-3799 ; Social Sciences ; H
Language	Spanish
Publishing date	2012-10-01T00:00:00Z
Publisher	Universidad Nacional de Rosario
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

Yunis, Juan J / Yunis, Luz K

Clinical genetics

2023 Volume 103, Issue 6, Page(s) 720–722

Abstract: The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant. ...

Abstract	The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.
MeSH term(s)	Humans ; Dwarfism ; Frameshift Mutation ; Intellectual Disability ; Membrane Transport Proteins ; Osteochondrodysplasias ; Transcription Factors
Chemical Substances	Membrane Transport Proteins ; Transcription Factors ; TRAPPC2 protein, human
Language	English
Publishing date	2023-01-26
Publishing country	Denmark
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14301
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Article ; Online: Severe respiratory viral infections: T-cell functions diverging from immunity to inflammation.

Yunis, Joseph / Short, Kirsty R / Yu, Di

Trends in microbiology

2023 Volume 31, Issue 6, Page(s) 644–656

Abstract: Respiratory viral infections such as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza A virus (IAV) trigger distinct clinical outcomes defined by immunity-based viral clearance or disease associated with exaggerated and ... ...

Abstract	Respiratory viral infections such as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza A virus (IAV) trigger distinct clinical outcomes defined by immunity-based viral clearance or disease associated with exaggerated and prolonged inflammation. The important role of T cells in shaping both antiviral immunity and inflammation has revived interest in understanding the host-pathogen interactions that lead to the diverse functions of T cells in respiratory viral infections. Inborn deficiencies and acquired insufficiency in immunity can prolong infection and shift the immune response towards exacerbated inflammation, which results from persistent innate immune activation and bystander T-cell activation that is nonspecific to the pathogen but is often driven by cytokines. This review discusses how virus variants, exposure doses, routes of infection, host genetics, and immune history can modulate the activation and function of T cells, thus influencing clinical outcomes. Knowledge of virus-host interaction can inform strategies to prevent immune dysfunction in respiratory viral infection and help in the treatment of associated diseases.
MeSH term(s)	Humans ; Immunity, Innate ; T-Lymphocytes ; COVID-19 ; SARS-CoV-2 ; Inflammation
Language	English
Publishing date	2023-01-10
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1158963-2
ISSN	1878-4380 ; 0966-842X
ISSN (online)	1878-4380
ISSN	0966-842X
DOI	10.1016/j.tim.2022.12.008
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Article ; Online: Pharmacogenetics of ABCB1, CDA, DCK, GSTT1, GSTM1 and outcomes in a cohort of pediatric acute myeloid leukemia patients from Colombia.

Yunis, Luz K / Linares-Ballesteros, Adriana / Aponte, Nelson / Barros, Gisela / García, Johnny / Niño, Laura / Uribe, Gloria / Quintero, Edna / Yunis, Juan J

Cancer reports (Hoboken, N.J.)

2022 Volume 6, Issue 3, Page(s) e1744

Abstract: Background and aim: Different studies have shown pharmacogenetic variants related to drug toxicity in acute myeloid leukemia (AML) patients. Our aim was to identify the association between ABCB1, CDA, DCK, GSTT1, and GSTM1 variants with clinical ... ...

Abstract	Background and aim: Different studies have shown pharmacogenetic variants related to drug toxicity in acute myeloid leukemia (AML) patients. Our aim was to identify the association between ABCB1, CDA, DCK, GSTT1, and GSTM1 variants with clinical outcomes and toxicity in pediatric patients with AML. Methods: Fifty-one confirmed de novo AML pediatric patients were included. A SNaPshot™ assay and conventional PCR were used to evaluate ABCB1, CDA, DCK, GSTT1, and GSTM1 variants. Clinical outcomes and toxicity associations were evaluated using odds ratios and Chi-square analysis. Results: Patients carrying ABCB1 (1236C > T, rs1128503) GG genotype in had a 6.8 OR (CI 95% 1.08-42.73, p = .044) for cardiotoxicity as compared to patients carrying either AA or GA genotypes 0.14 OR (CI 95% 0.023-0.92, p = .044). For ABCB1 (1236G > A rs1128503/2677C > A/T rs2032582/3435G > A rs1045642) AA/AA/AA combined genotypes had a strong association with death after HSTC OR 13.73 (CI 95% 1.94-97.17, p = .009). Combined genotypes GG/CC/GG with CDA (79A > C, rs2072671) CA genotype or CDA (-451G > A, rs532545) CT genotype, had a 4.11 OR (CI 95% 2.32-725, p = .007) and 3.8 OR (CI 95% 2.23-6.47, p = .027) with MRD >0.1% after first chemotherapy cycle, respectively. Conclusion: Our results highlight the importance of pharmacogenetic analysis in pediatric AML, particularly in populations with a high degree of admixture, and might be useful as a future tool for patient stratification for treatment.
MeSH term(s)	Humans ; Child ; Pharmacogenetics ; Colombia/epidemiology ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; Genotype ; ATP Binding Cassette Transporter, Subfamily B/genetics ; ATP Binding Cassette Transporter, Subfamily B/therapeutic use
Chemical Substances	ABCB1 protein, human ; ATP Binding Cassette Transporter, Subfamily B
Language	English
Publishing date	2022-10-31
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2573-8348
ISSN (online)	2573-8348
DOI	10.1002/cnr2.1744
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Article ; Online: Mobile app activity engagement by cancer patients and their caregivers informs remote monitoring.

Yunis, Reem / Fonda, Stephanie J / Aghaee, Sara / Kubo, Ai / Davis, Sharon W / Liu, Raymond / Neeman, Elad / Oakley-Girvan, Ingrid

Scientific reports

2024 Volume 14, Issue 1, Page(s) 3375

Abstract: Mobile phone applications ("apps") are potentially an effective, low-burden method to collect patient-reported outcomes outside the clinical setting. Using such apps consistently and in a timely way is critical for complete and accurate data capture, but ...

Abstract	Mobile phone applications ("apps") are potentially an effective, low-burden method to collect patient-reported outcomes outside the clinical setting. Using such apps consistently and in a timely way is critical for complete and accurate data capture, but no studies of concurrent reporting by cancer patient-caregiver dyads have been published in the peer-reviewed literature. This study assessed app engagement, defined as adherence, timing, and attrition with two smartphone applications, one for adult cancer patients and one for their informal caregivers. This was a single-arm, pilot study in which adult cancer patients undergoing IV chemotherapy or immunotherapy used the DigiBioMarC app, and their caregivers used the TOGETHERCare app, for approximately one month to report weekly on the patients' symptoms and wellbeing. Using app timestamp metadata, we assessed user adherence, overall and by participant characteristics. Fifty patient-caregiver dyads completed the study. Within the one-month study period, both adult cancer patients and their informal caregivers were highly adherent, with app activity completion at 86% for cancer patients and 84% for caregivers. Caregivers completed 86% of symptom reports, while cancer patients completed 89% of symptom reports. Cancer patients and their caregivers completed most activities within 48 h of availability on the app. These results suggest that the DigiBioMarC and TOGETHERCare apps can be used to collect patient- and caregiver-reported outcomes data during intensive treatment. From our research, we conclude that metadata from mobile apps can be used to inform clinical teams about study participants' engagement and wellbeing outside the clinical setting.
MeSH term(s)	Adult ; Humans ; Mobile Applications ; Caregivers ; Pilot Projects ; Cell Phone ; Neoplasms/therapy
Language	English
Publishing date	2024-02-09
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/s41598-024-53373-w
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Article ; Online: Spatial insights into immunotherapy response in non-small cell lung cancer (NSCLC) by multiplexed tissue imaging.

Monkman, James / Moradi, Afshin / Yunis, Joseph / Ivison, Geoff / Mayer, Aaron / Ladwa, Rahul / O'Byrne, Ken / Kulasinghe, Arutha

Journal of translational medicine

2024 Volume 22, Issue 1, Page(s) 239

Abstract: The spatial localisation of immune cells within tumours are key to understand the intercellular communications that can dictate clinical outcomes. Here, we demonstrate an analysis pipeline for highly multiplexed CODEX data to phenotype and profile ... ...

Abstract	The spatial localisation of immune cells within tumours are key to understand the intercellular communications that can dictate clinical outcomes. Here, we demonstrate an analysis pipeline for highly multiplexed CODEX data to phenotype and profile spatial features and interactions in NSCLC patients that subsequently received PD1 axis immunotherapy. We found that regulatory T cells (Tregs) are enriched in non-responding patients and this was consistent with their localization within stromal and peripheral tumour-margins. Proximity-based interactions between Tregs and both monocytes (p = 0.009) and CD8
MeSH term(s)	Humans ; Carcinoma, Non-Small-Cell Lung/therapy ; CD8-Positive T-Lymphocytes ; Lung Neoplasms/therapy ; Adenoma, Pleomorphic ; Immunotherapy ; Tumor Microenvironment
Language	English
Publishing date	2024-03-04
Publishing country	England
Document type	Journal Article
ZDB-ID	2118570-0
ISSN	1479-5876 ; 1479-5876
ISSN (online)	1479-5876
ISSN	1479-5876
DOI	10.1186/s12967-024-05035-8
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Article ; Online: Molecular characterization of hemophilia B patients in Colombia.

Parrado Jara, Yolima A / Yunis Hazbun, Luz K / Linares, Adriana / Yunis Londoño, Juan J

Molecular genetics & genomic medicine

2020 Volume 8, Issue 5, Page(s) e1210

Abstract: Background: Hemophilia B (HB) is a coagulation disorder with an X-linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high-cost disease, with 362 males reported in 2017.: Methods: Here, we ... ...

Abstract	Background: Hemophilia B (HB) is a coagulation disorder with an X-linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high-cost disease, with 362 males reported in 2017. Methods: Here, we characterized 20 HB apparently unrelated families by PCR amplification and Sanger sequencing. Results: Fourteen unique variants were identified: seven missense, three nonsense, one variant in the 3' UTR region, two large deletions >50 bp, and one intronic substitution that affects splicing c.520+13A>G that was present in 7/20 patients (35%). All these variants have been previously reported in the literature, except for exons 3 and 4, deletions, present in one patient. The genotype-phenotype association correlates with the reported in the literature, with the exception of one patient. Conclusion: This molecular analysis allowed us to establish the causal variant of HB in 100% of patients, to provide the appropriate genetic counseling to each of the families, and to propose a more cost-effective carrier analysis. Here, we reported the first variants in Colombian population with Hemophilia B, finding a new variant and one intron recurrent variant present in 35% of patients.
MeSH term(s)	Adolescent ; Adult ; Aged ; Child ; Colombia ; Factor IX/genetics ; Gene Frequency ; Hemophilia B/genetics ; Humans ; Male ; Middle Aged ; Mutation ; Phenotype
Chemical Substances	Factor IX (9001-28-9)
Language	English
Publishing date	2020-03-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.1210
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Article ; Online: Correction: Correlation Between Remote Symptom Reporting by Caregivers and Adverse Clinical Outcomes: Mixed Methods Study.

Oakley-Girvan, Ingrid / Yunis, Reem / Fonda, Stephanie J / Longmire, Michelle / Veuthey, Tess L / Shieh, Jennifer / Aghaee, Sara / Kubo, Ai / Davis, Sharon W / Liu, Raymond / Neeman, Elad

Journal of medical Internet research

2024 Volume 26, Page(s) e56368

Abstract: This corrects the article DOI: 10.2196/49100.]. ...

Abstract	[This corrects the article DOI: 10.2196/49100.].
Language	English
Publishing date	2024-01-30
Publishing country	Canada
Document type	Published Erratum
ZDB-ID	2028830-X
ISSN	1438-8871 ; 1438-8871
ISSN (online)	1438-8871
ISSN	1438-8871
DOI	10.2196/56368
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Article ; Online: Nirmatrelvir for Vaccinated or Unvaccinated Adult Outpatients with Covid-19.

Hammond, Jennifer / Fountaine, Robert J / Yunis, Carla / Fleishaker, Dona / Almas, Mary / Bao, Weihang / Wisemandle, Wayne / Baniecki, Mary Lynn / Hendrick, Victoria M / Kalfov, Veselin / Simón-Campos, J Abraham / Pypstra, Rienk / Rusnak, James M

The New England journal of medicine

2024 Volume 390, Issue 13, Page(s) 1186–1195

Abstract: Background: Nirmatrelvir in combination with ritonavir is an antiviral treatment for mild-to-moderate coronavirus disease 2019 (Covid-19). The efficacy of this treatment in patients who are at standard risk for severe Covid-19 or who are fully ... ...

Abstract	Background: Nirmatrelvir in combination with ritonavir is an antiviral treatment for mild-to-moderate coronavirus disease 2019 (Covid-19). The efficacy of this treatment in patients who are at standard risk for severe Covid-19 or who are fully vaccinated and have at least one risk factor for severe Covid-19 has not been established. Methods: In this phase 2-3 trial, we randomly assigned adults who had confirmed Covid-19 with symptom onset within the past 5 days in a 1:1 ratio to receive nirmatrelvir-ritonavir or placebo every 12 hours for 5 days. Patients who were fully vaccinated against Covid-19 and who had at least one risk factor for severe disease, as well as patients without such risk factors who had never been vaccinated against Covid-19 or had not been vaccinated within the previous year, were eligible for participation. Participants logged the presence and severity of prespecified Covid-19 signs and symptoms daily from day 1 through day 28. The primary end point was the time to sustained alleviation of all targeted Covid-19 signs and symptoms. Covid-19-related hospitalization and death from any cause were also assessed through day 28. Results: Among the 1296 participants who underwent randomization and were included in the full analysis population, 1288 received at least one dose of nirmatrelvir-ritonavir (654 participants) or placebo (634 participants) and had at least one postbaseline visit. The median time to sustained alleviation of all targeted signs and symptoms of Covid-19 was 12 days in the nirmatrelvir-ritonavir group and 13 days in the placebo group (P = 0.60). Five participants (0.8%) in the nirmatrelvir-ritonavir group and 10 (1.6%) in the placebo group were hospitalized for Covid-19 or died from any cause (difference, -0.8 percentage points; 95% confidence interval, -2.0 to 0.4). The percentages of participants with adverse events were similar in the two groups (25.8% with nirmatrelvir-ritonavir and 24.1% with placebo). In the nirmatrelvir-ritonavir group, the most commonly reported treatment-related adverse events were dysgeusia (in 5.8% of the participants) and diarrhea (in 2.1%). Conclusions: The time to sustained alleviation of all signs and symptoms of Covid-19 did not differ significantly between participants who received nirmatrelvir-ritonavir and those who received placebo. (Supported by Pfizer; EPIC-SR ClinicalTrials.gov number, NCT05011513.).
MeSH term(s)	Adult ; Humans ; Antiviral Agents/adverse effects ; Antiviral Agents/therapeutic use ; COVID-19/diagnosis ; COVID-19/prevention & control ; COVID-19/therapy ; COVID-19 Drug Treatment ; Diarrhea/chemically induced ; Ambulatory Care ; Dysgeusia/chemically induced ; Vaccination ; COVID-19 Vaccines/therapeutic use
Chemical Substances	Antiviral Agents ; nirmatrelvir and ritonavir drug combination ; COVID-19 Vaccines
Language	English
Publishing date	2024-04-04
Publishing country	United States
Document type	Clinical Trial, Phase II ; Clinical Trial, Phase III ; Journal Article ; Randomized Controlled Trial
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMoa2309003
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Article: Mitochondrial DNA (mtDNA) haplogroups in 1526 unrelated individuals from 11 Departments of Colombia.

Yunis, Juan J / Yunis, Emilio J

Genetics and molecular biology

2013 Volume 36, Issue 3, Page(s) 329–335

Abstract: The frequencies of four mitochondrial Native American DNA haplogroups were determined in 1526 unrelated individuals from 11 Departments of Colombia and compared to the frequencies previously obtained for Amerindian and Afro-Colombian populations. ... ...

Abstract	The frequencies of four mitochondrial Native American DNA haplogroups were determined in 1526 unrelated individuals from 11 Departments of Colombia and compared to the frequencies previously obtained for Amerindian and Afro-Colombian populations. Amerindian mtDNA haplogroups ranged from 74% to 97%. The lowest frequencies were found in Departments on the Caribbean coast and in the Pacific region, where the frequency of Afro-Colombians is higher, while the highest mtDNA Amerindian haplogroup frequencies were found in Departments that historically have a strong Amerindian heritage. Interestingly, all four mtDNA haplogroups were found in all Departments, in contrast to the complete absence of haplogroup D and high frequencies of haplogroup A in Amerindian populations in the Caribbean region of Colombia. Our results indicate that all four Native American mtDNA haplogroups were widely distributed in Colombia at the time of the Spanish conquest.
Language	English
Publishing date	2013-08-30
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/S1415-47572013000300005
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