POLI HARLOWE, MARIA CECILIA BERTA
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POLI HARLOWE, MARIA CECILIA BERTA
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mpoli@alemana.cl
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57214078113

Research Output

2024 2024 2023 2023 2022 2022 2021 2021 2020 2020 2019 2019 2018 2018 0 0 2 2 4 4 6 6 8 8 10 10
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Compromiso cardiovascular en pacientes con Síndrome Inflamatorio Pediátrico Multisistémico, asociado a infección por SARS-CoV-2

2020 , Patricia Álvarez , Valeria Acevedo , María Lidia Valenzuela , Vicente Montes , Patricia Aroca , Carla García , Carolina Campos , Katherine Koch , Soledad González , Cecilia Poli , Patricia Verdugo , Fernanda Cofré , Jorge Mackenney , Lorena Tapia

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Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

2021 , Sonja Neuser , Barbara Brechmann , Gali Heimer , Ines Brösse , Susanna Schubert , Lauren O'Grady , Michael Zech , Siddharth Srivastava , David A. Sweetser , Yasemin Dincer , Volker Mall , Juliane Winkelmann , Christian Behrends , Basil T. Darras , Robert J. Graham , Parul Jayakar , Barry Byrne , Bat El Bar‐Aluma , Yael Haberman , Amir Szeinberg , Hesham M. Aldhalaan , Mais Hashem , Amal Al Tenaiji , Omar Ismayl , Asma E. Al Nuaimi , Karima Maher , Shahnaz Ibrahim , Fatima Khan , Henry Houlden , Vijayalakshmi S. Ramakumaran , Alistair T. Pagnamenta , Jennifer E. Posey , James R. Lupski , Wen‐Hann Tan , Gehad ElGhazali , Isabella Herman , Tatiana Muñoz , REPETTO LISBOA, MARIA GABRIELA , Angelika Seitz , Mandy Krumbiegel , POLI HARLOWE, MARIA CECILIA BERTA , Usha Kini , Stephanie Efthymiou , Jens Meiler , Reza Maroofian , Fowzan S. Alkuraya , Rami Abou Jamra , Bernt Popp , Bruria Ben‐Zeev , Darius Ebrahimi‐Fakhari

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Partial loss of function mutations in GINS4 lead to natural killer cell deficiency with neutropenia

2022 , Matilde Conte , Angelo Taglialatela , Giuseppe Leuzzi , Ivan Chinn , Sandra Salinas , POLI HARLOWE, MARIA CECILIA BERTA , Liz Veramendi Espinoza , Alberto Ciccia , James Lupski , Juan Aldave Becerra , Emily Mace , Jordan Orange

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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

2018 , Ivan K. Chinn , Olive S. Eckstein , Erin C. Peckham-Gregory , Baruch R. Goldberg , Lisa R. Forbes , Sarah K. Nicholas , Emily M. Mace , Tiphanie P. Vogel , Harshal A. Abhyankar , Maria I. Diaz , Helen E. Heslop , Robert A. Krance , Caridad A. Martinez , Trung C. Nguyen , Dalia A. Bashir , Jordana R. Goldman , Asbjørg Stray-Pedersen , Luis A. Pedroza , POLI HARLOWE, MARIA CECILIA BERTA , Juan C. Aldave-Becerra , Sean A. McGhee , Waleed Al-Herz , Aghiad Chamdin , Zeynep H. Coban-Akdemir , Shalini N. Jhangiani , Donna M. Muzny , Tram N. Cao , Diana N. Hong , Richard A. Gibbs , James R. Lupski , Jordan S. Orange , Kenneth L. McClain , Carl E. Allen

Key Points Whole-exome sequencing may identify specific therapeutic opportunities for patients with HLH. HLH should be conceptualized as a critical illness phenotype driven by toxic activation of immune cells from different underlying mechanisms.

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COMBINED TARGETING OF LXR AND NF-kappa B AS A TREATMENT OF ATOPIC DERMATITIS

2022 , POLI HARLOWE, MARIA CECILIA BERTA

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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

2024 , POLI HARLOWE, MARIA CECILIA BERTA , Boris Rebolledo-Jaramillo , Catalina Lagos , Joan Orellana , Gabriela Moreno , Luz M. Martín , Gonzalo Encina , Daniela Böhme , Víctor Faundes , M. Jesús Zavala , María Trinidad Hasbún , Sara Fischer , Florencia Brito , Diego Araya , Manuel Lira , Javiera de la Cruz , Camila Astudillo , Guillermo Lay-Son , Carolina Cares , Mariana Aracena , Esteban San Martin , Zeynep Coban-Akdemir , Jennifer E. Posey , James R. Lupski , Gabriela M. Repetto

AbstractRare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the “diagnostic odyssey” for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international collaboration with Baylor College of Medicine, and the local development was structured as a hybrid model, where clinical and bioinformatics analysis were performed in-house and sequencing outsourced abroad, due to lack of high-throughput equipment in Chile. We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies, intellectual disabilities and/or immune system dysfunction. Patients underwent clinical exome or research exome sequencing, as solo cases or with parents using a trio design. We identified pathogenic, likely pathogenic or variants of unknown significance in genes related to the patients´ phenotypes in 47 (45.6%) of them. Half were de novo informative variants, and half of the identified variants have not been previously reported in public databases. DECIPHERD ended the diagnostic odyssey for many participants. This hybrid strategy may be useful for settings of similarly limited genomic resources and lead to discoveries in understudied populations.

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Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

2023 , Danyel Lee , Jérémie Le Pen , Ahmad Yatim , Beihua Dong , Yann Aquino , Masato Ogishi , Rémi Pescarmona , Estelle Talouarn , Darawan Rinchai , Peng Zhang , Magali Perret , Zhiyong Liu , Iolanda Jordan , Sefika Elmas Bozdemir , Gulsum Iclal Bayhan , Camille Beaufils , Lucy Bizien , Aurelie Bisiaux , Weite Lei , Milena Hasan , Jie Chen , Christina Gaughan , Abhishek Asthana , Valentina Libri , Joseph M. Luna , Fabrice Jaffré , H.-Heinrich Hoffmann , Eleftherios Michailidis , Marion Moreews , Yoann Seeleuthner , Kaya Bilguvar , Shrikant Mane , Carlos Flores , Yu Zhang , Andrés A. Arias , Rasheed Bailey , Agatha Schlüter , Baptiste Milisavljevic , Benedetta Bigio , Tom Le Voyer , Marie Materna , Adrian Gervais , Marcela Moncada-Velez , Francesca Pala , Tomi Lazarov , Romain Levy , Anna-Lena Neehus , Jérémie Rosain , Jessica Peel , Yi-Hao Chan , Marie-Paule Morin , Rosa Maria Pino-Ramirez , Serkan Belkaya , Lazaro Lorenzo , Jordi Anton , Selket Delafontaine , Julie Toubiana , Fanny Bajolle , Victoria Fumadó , Marta L. DeDiego , Nadhira Fidouh , Flore Rozenberg , Jordi Pérez-Tur , Shuibing Chen , Todd Evans , Frédéric Geissmann , Pierre Lebon , Susan R. Weiss , Damien Bonnet , Xavier Duval , Qiang Pan-Hammarström , Anna M. Planas , Isabelle Meyts , Filomeen Haerynck , Aurora Pujol , Vanessa Sancho-Shimizu , Clifford L. Dalgard , Jacinta Bustamante , Anne Puel , Stéphanie Boisson-Dupuis , Bertrand Boisson , Tom Maniatis , Qian Zhang , Paul Bastard , Luigi Notarangelo , Vivien Béziat , Rebeca Perez de Diego , Carlos Rodriguez-Gallego , Helen C. Su , Richard P. Lifton , Emmanuelle Jouanguy , Aurélie Cobat , Laia Alsina , Sevgi Keles , Elie Haddad , Laurent Abel , Alexandre Belot , Lluis Quintana-Murci , Charles M. Rice , Robert H. Silverman , Shen-Ying Zhang , Jean-Laurent Casanova , Loubna Alavoine , Sylvie Behillil , Charles Burdet , Charlotte Charpentier , Aline Dechanet , Diane Descamps , Xavier Duval , Jean-Luc Ecobichon , Vincent Enouf , Wahiba Frezouls , Nadhira Houhou , Ouifiya Kafif , Jonathan Lehacaut , Sophie Letrou , Bruno Lina , Jean-Christophe Lucet , Pauline Manchon , Mariama Nouroudine , Valentine Piquard , Caroline Quintin , Michael Thy , Sarah Tubiana , Sylvie van der Werf , Valérie Vignali , Benoit Visseaux , Yazdan Yazdanpanah , Abir Chahine , Nawal Waucquier , Maria-Claire Migaud , Dominique Deplanque , Félix Djossou , Mayka Mergeay-Fabre , Aude Lucarelli , Magalie Demar , Léa Bruneau , Patrick Gérardin , Adrien Maillot , Christine Payet , Bruno Laviolle , Fabrice Laine , Christophe Paris , Mireille Desille-Dugast , Julie Fouchard , Denis Malvy , Duc Nguyen , Thierry Pistone , Pauline Perreau , Valérie Gissot , Carole Le Goas , Samatha Montagne , Lucie Richard , Catherine Chirouze , Kévin Bouiller , Maxime Desmarets , Alexandre Meunier , Benjamin Lefèvre , Hélène Jeulin , Karine Legrand , Sandra Lomazzi , Bernard Tardy , Amandine Gagneux-Brunon , Frédérique Bertholon , Elisabeth Botelho-Nevers , Kouakam Christelle , Leturque Nicolas , Layidé Roufai , Karine Amat , Sandrine Couffin-Cadiergues , Hélène Espérou , Samia Hendou , Laurent Abel , Hassan Abolhassani , Sergio Aguilera-Albesa , Alessandro Aiuti , Ozge Metin Akcan , Nihal Akcay , Gulsum Alkan , Suzan A. Alkhater , Luis Miguel Allende , Yosunkaya Alper , Naima Amenzoui , Mark S. Anderson , Lisa Arkin , Melodie Aubart , Iryna Avramenko , Şehnaz Aydemir , Zeynep Gökçe Gayretli Aydin , Caner Aytekin , Gökhan Aytekin , Selma Erol Aytekin , Silvia Yumi Bando , Kathie Beland , Serkan Belkaya , Catherine M. Biggs , Agurtzane Bilbao Aburto , Geraldine Blanchard-Rohner , Daniel Blázquez-Gamero , Marketa Bloomfield , Dusan Bogunovic , Anastasia Bondarenko , Alessandro Borghesi , Amed Aziz Bousfiha , Oksana Boyarchuk , Petter Brodin , Yenan Bryceson , Giorgia Bucciol , Valeria Calcaterra , Giorgio Casari , Andre Cavalcanti , Jale Bengi Celik , George P. Chrousos , Roger Colobran , Antonio Condino-Neto , Francesca Conti , Megan Cooper , Taner Coskuner , Cyril Cyrus , Enza D’Auria , Selket Delafontaine , Beth A. Drolet , Burcu Bursal Duramaz , Loubna El Zein , Marwa H. Elnagdy , Melike Emiroglu , Emine Hafize Erdeniz , Marianna Fabi , Hagit Baris Feldman , Jacques Fellay , Filip Fencl , Filippos Filippatos , Julie Freiss , Jiri Fremuth , Alenka Gagro , Blanca Garcia-Solis , Gianluca Vergine , Rafaela González-Montelongo , Yahya Gul , Belgin Gülhan , Sara Sebnem Kilic Gultekin , Marta Gut , Rabih Halwani , Lennart Hammarström , Nevin Hatipoğlu , James Heath , Sarah E. Henrickson , Elisa Hernandez-Brito , Ilse Hoffman , Levi Hoste , Elena Hsieh , Antonio Íñigo-Campos , Yuval Itan , Petr Jabandziev , Bahar Kandemir , Saliha Kanık-Yüksek , Hasan Kapakli , Adem Karbuz , Ozgur Kasapcopur , Robin Kechiche , Yasemin Kendir Demirkol , Omer Kilic , Stella Kim Hansen , Adam Klocperk , Yu-Lung Lau , Jan Lebl , José M. Lorenzo-Salazar , Carrie L. Lucas , Majistor Maglorius , Laura Marque , Yeray Novoa Medina , Abián Montesdeoca Melián , Alexios-Fotios A. Mentis , Michele T. Pato , Athanasios Michos , Joshua D. Milner , Trine H. Mogensen , Adrián Muñoz-Barrera , Serdar Nepesov , João Farela Neves , Ashley Ng , Lisa F. P. Ng , Antonio Novelli , Giuseppe Novelli , Fatma Nur Oz , J. Gonzalo Ocejo-Viñals , Satoshi Okada , Zerrin Orbak , Ahmet Osman Kilic , Hind Ouair , Şadiye Kübra Tüter Öz , Tayfun Özçelik , Esra Akyüz Özkan , Aslınur Özkaya Parlakay , Carlos N. Pato , Estela Paz-Artal , Simon Pelham , Isabelle Pellier , Quentin Philippot , Laura Planas-Serra , Samira Plassart , Petra Pokorna , Meltem Polat , POLI HARLOWE, MARIA CECILIA BERTA , Carolina Prando , Laurent Renia , Jacques G. Rivière , Agustí Rodríguez-Palmero , Lucie Roussel , Luis A. Rubio-Rodriguez , Moro Salifu , Lumir Sasek , Laura Sasia , Anna Scherbina , Erica Schmitt , Anna Sediva , Esra Sevketoglu , Katerina Slaba , Ondrej Slaby , Ali Sobh , Jordi Solé-Violán , Pere Soler-Palacin , Lien De Somer , Betül Sözeri , András N. Spaan , Yuriy Stepanovskiy , Stuart G. Tangye , Gonul Tanir , Elizabeth Barbara Tatsi , Christian W. Thorball , Selda Hancerli Torun , Stuart Turvey , Mohammed J. Uddin , Emel Uyar , Juan Valencia-Ramos , Ana Maria Van Den Rym , Hulya Vatansev , Martín Castillo de Vera , François Vermeulen , Donald C. Vinh , Alla Volokha , Horst von Bernuth , Carine Wouters , Aysun Yahşi , Volkan Yarar , Osman Yesilbas , Mehmet Yıldız , Mayana Zatz , Pawel Zawadzki , Gianvincenzo Zuccotti , Shen-Ying Zhang , Jean-Laurent Casanova

Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1 , OAS2 , or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)–sensing OAS1 and OAS2 generate 2′-5′-linked oligoadenylates (2-5A) that activate the single-stranded RNA–degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L–deficient cells. Cytokine production in RNase L–deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS–RNase L deficiencies in these patients unleash the production of SARS-CoV-2–triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C.

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Gain-of-Function Mutations in STAT1: A Novel Manifestation with Pulmonary Granulomatous Disease

2020 , VALENTINA LUCIA JARUR CHAMY , POLI HARLOWE, MARIA CECILIA BERTA , EVELYN ANDREA SILVA CONTRERAS

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Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

2022 , Carmelo Carmona-Rivera , Yu Zhang , Kerry Dobbs , Tovah E. Markowitz , Clifton L. Dalgard , Andrew J. Oler , Dillon R. Claybaugh , Deborah Draper , Meng Truong , Ottavia M. Delmonte , Francesco Licciardi , Ugo Ramenghi , Nicoletta Crescenzio , Luisa Imberti , Alessandra Sottini , Virginia Quaresima , Chiara Fiorini , Valentina Discepolo , Andrea Lo Vecchio , Alfredo Guarino , Luca Pierri , Andrea Catzola , Andrea Biondi , Paolo Bonfanti , POLI HARLOWE, MARIA CECILIA BERTA , Yasmin Espinosa , Camila Astudillo , REY JURADO, EMMA , VIAL COX, MARIA CECILIA , Javiera de la Cruz , Ricardo Gonzalez , Cecilia Pinera , Jacqueline W. Mays , Ashley Ng , Andrew Platt , Beth Drolet , John Moon , Edward W. Cowen , Heather Kenney , Sarah E. Weber , Riccardo Castagnoli , Mary Magliocco , Michael A. Stack , Gina Montealegre , Karyl Barron , Danielle L. Fink , Douglas B. Kuhns , Stephen M. Hewitt , Lisa M. Arkin , Daniel S. Chertow , Helen C. Su , Luigi D. Notarangelo , Mariana J. Kaplan

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Post-COVID-19 condition: a sex-based analysis of clinical and laboratory trends

2024 , Carlos Delfino , POLI HARLOWE, MARIA CECILIA BERTA , VIAL COX, MARIA CECILIA , VIAL CLARO, PABLO AGUSTIN , Gonzalo Martínez , Amy Riviotta , Catalina Arbat , Nicole Mac-Guire , Josefina Hoppe , CARVAJAL BENAVIDES, CÉSAR CRISTÓBAL , MUÑOZ VENTURELLI, PAULA ANDREA

Background and aimPost-COVID-19 condition (PCC) encompasses long-lasting symptoms in individuals with COVID-19 and is estimated to affect between 31–67% of patients, with women being more commonly affected. No definitive biomarkers have emerged in the acute stage that can help predict the onset of PCC, therefore we aimed at describing sex-disaggregated data of PCC patients from a local cohort and explore potential acute predictors of PCC and neurologic PCC.MethodsA local cohort of consecutive patients admitted with COVID-19 diagnosis between June 2020 and July 2021 were registered, and clinical and laboratory data were recorded. Only those <65 years, discharged alive and followed up at 6 and 12 months after admission were considered in these analyses. Multivariable logistic regression analysis was performed to explore variables associated with PCC (STATA v 18.0).ResultsFrom 130 patients in the cohort, 104 were contacted: 30% were women, median age of 42 years. At 6 months, 71 (68%) reported PCC symptoms. Women exhibited a higher prevalence of any PCC symptom (87 vs. 60%, p = 0.007), lower ferritin (p = 0.001) and procalcitonin (p = 0.021) and higher TNF levels (p = 0.042) in the acute phase compared to men. Being women was independently associated to 7.60 (95% CI 1.27–45.18, p = 0.026) higher risk for PCC. Moreover, women had lower return to normal activities 6 and 12 months.ConclusionOur findings highlight the lasting impact of COVID-19, particularly in young women, emphasising the need for tailored post-COVID care. The lower ferritin levels in women are an intriguing observation, warranting further research. The study argues for comprehensive strategies that address sex-specific challenges in recovery from COVID-19.

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