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JOURNAL ARTICLE
John McDonnell, Kimberley Cousins, M Elizabeth M Younger, Adam Lane, Hassan Abolhassani, Roshini S Abraham, Salem Al-Tamemi, Juan Carlos Aldave-Becerra, Eman Hesham Al-Faris, Alberto Alfaro-Murillo, Suzan A AlKhater, Nouf Alsaati, Alexa Michelle Altman Doss, Melissa Anderson, Ernestina Angarola, Barbara Ariue, Danielle E Arnold, Amal H Assa'ad, Caner Aytekin, Meaghan Bank, Jenna R E Bergerson, Jack Bleesing, John Boesing, Carolina Bouso, Nicholas Brodszki, Diana Cabanillas, Carol Cady, Meghan A Callahan, Roberta Caorsi, Javier Carbone, Maria Carrabba, Riccardo Castagnoli, Jason R Catanzaro, Samantha Chan, Sharat Chandra, Hugo Chapdelaine, Zahra Chavoshzadeh, Hey Jin Chong, Lori Connors, Filippo Consonni, Oscar Correa-Jimenez, Charlotte Cunningham-Rundles, Katherine D'Astous-Gauthier, Ottavia Maria Delmonte, Yesim Yilmaz Demirdag, Deepti R Deshpande, Natalie M Diaz-Cabrera, Victoria R Dimitriades, Rasha El-Owaidy, Gehad ElGhazali, Suleiman Al-Hammadi, Giovanna Fabio, Astrid Schellnast Faure, Jin Feng, James M Fernandez, Lauren Fill, Guacira R Franco, Robert W Frenck, Ramsay L Fuleihan, Giuliana Giardino, Jessica Galant-Swafford, Eleonora Gambineri, Elizabeth K Garabedian, Ashley V Geerlinks, Ekaterini Goudouris, Octavio Grecco, Qiang Pan-Hammarström, Hedieh Haji Khodaverdi Khani, Lennart Hammarström, Nicholas L Hartog, Jennifer Heimall, Gabriela Hernandez-Molina, Caroline C Horner, Robert W Hostoffer, Nataliya Hristova, Kuang-Chih Hsiao, Gabriela Ivankovich-Escoto, Faris Jaber, Maaz Jalil, Mahnaz Jamee, Tiffany Jean, Stephanie Jeong, Devi Jhaveri, Michael B Jordan, Avni Y Joshi, Amanpreet Kalkat, Henry J Kanarek, Erinn S Kellner, Amer Khojah, Ruby Khoury, Cristina M Kokron, Ashish Kumar, Kelsey Lecerf, Heather K Lehman, Jennifer W Leiding, Harry Lesmana, Xin Rong Lim, Joao Pedro Lopes, Ana Laura López, Lucia Tarquini, Ingrid S Lundgren, Julieann Magnusson, Ana Karolina B B Marinho, Gian Luigi Marseglia, Giulia M Martone, Annamaria G Mechtler, Leonardo Mendonca, Joshua D Milner, Peter J Mustillo, Asal Gharib Naderi, Samuele Naviglio, Jeremy Nell, Hana B Niebur, Luigi Notarangelo, Matias Oleastro, María Claudia Ortega-López, Neil R Patel, Gordana Petrovic, Claudio Pignata, Oscar Porras, Benjamin T Prince, Jennifer M Puck, Nashmia Qamar, Marco Rabusin, Nikita Raje, Lorena Regairaz, Kimberly A Risma, Elizabeth H Ristagno, John Routes, Persio Roxo-Junior, Negin Salemi, Christopher Scalchunes, Susan J Schuval, Suranjith L Seneviratne, Ashwin Shankar, Roya Sherkat, Junghee Jenny Shin, Abeer Siddiqi, Sara Signa, Ali Sobh, Fabiana Mascarenhas Souza Lima, Kristen K Stenehjem, Jonathan S Tam, Monica Tang, Myrthes Toledo Barros, James Verbsky, Eleni Vergadi, Dayne H Voelker, Stefano Volpi, Luke A Wall, Christine Wang, Kelli W Williams, Eveline Y Wu, Shan Shan Wu, Jessie J Zhou, Alexandria Cook, Kathleen E Sullivan, Rebecca Marsh
BACKGROUND: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. OBJECTIVE: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. METHODS: We built a secure registry database in conjunction with the US Immunodeficiency Network to examine vaccination frequency and indicators of safety and effectiveness in IEI patients...
April 5, 2024: Journal of Clinical Immunology
#2
REVIEW
Juan Eduardo Quiroz-Aldave, Elman Rolando Gamarra-Osorio, María Del Carmen Durand-Vásquez, Luciana Del Pilar Rafael-Robles, Jhean Gabriel Gonzáles-Yovera, María Alejandra Quispe-Flores, Luis Alberto Concepción-Urteaga, Alejandro Román-González, José Paz-Ibarra, Marcio José Concepción-Zavaleta
Hepatocrinology explores the intricate relationship between liver function and the endocrine system. Chronic liver diseases such as liver cirrhosis can cause endocrine disorders due to toxin accumulation and protein synthesis disruption. Despite its importance, assessing endocrine issues in cirrhotic patients is frequently neglected. This article provides a comprehensive review of the epidemiology, pathophysiology, diagnosis, and treatment of endocrine disturbances in liver cirrhosis. The review was conducted using the PubMed/Medline, EMBASE, and Scielo databases, encompassing 172 articles...
March 7, 2024: World Journal of Gastroenterology: WJG
#3
JOURNAL ARTICLE
Kimberly P Raghubar, Andrew M Heitzer, Fatema Malbari, Jason Gill, Roy V Sillitoe, Livia Merrill, Johanna Escalante, M Fatih Okcu, Guillermo Aldave, Avner Meoded, Stephen Kralik, Kimberly Davis, Marina Ma, Emily A H Warren, Mark D McCurdy, Howard L Weiner, William Whitehead, Michael E Scheurer, Lisa Rodriguez, Amy Daigle, Murali Chintagumpala, Lisa S Kahalley
OBJECTIVE: Patients who experience postoperative pediatric cerebellar mutism syndrome (CMS) during treatment for medulloblastoma have long-term deficits in neurocognitive functioning; however, the consequences on functional or adaptive outcomes are unknown. The purpose of the present study was to compare adaptive, behavioral, and emotional functioning between survivors with and those without a history of CMS. METHODS: The authors examined outcomes in 45 survivors (15 with CMS and 30 without CMS)...
March 29, 2024: Journal of Neurosurgery. Pediatrics
#4
JOURNAL ARTICLE
Juan Eduardo Quiroz-Aldave, María Del Carmen Durand-Vásquez, Elman Rolando Gamarra-Osorio, Luis Alberto Concepción-Urteaga, Samuel Pecho-Silva, Luis Alejandro Rodríguez-Hidalgo, Marcio José Concepción-Zavaleta
INTRODUCTION: Adverse reactions to tuberculosis treatment can impact patient adherence and prognosis. Hypothyroidism is a frequent adverse reaction caused using ethionamide, prothionamide, and para-aminosalicylic acid and is often underdiagnosed. AREAS COVERED: We searched Scielo, Scopus, and EMBASE databases, including 67 articles. Antitubercular drug-induced hypothyroidism has a prevalence of 17%. It occurs after 2 to 3 months of treatment and resolves within 4 to 6 weeks after discontinuation...
January 19, 2024: Expert Review of Endocrinology & Metabolism
#5
JOURNAL ARTICLE
Doug D Chung, Angela C Chen, Charlene H Choo, Wenlin Zhang, Dominic Williams, Christopher G Griffis, Paul Bonezzi, Kavya Jatavallabhula, Alapakkam P Sampath, Anthony J Aldave
Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CEnC) dysfunction and/or cell loss leading to corneal edema and visual impairment. In this study, we characterize the impact of CHED-/FECD4-associated SLC4A11 mutations on CEnC function and SLC4A11 protein localization by generating and comparing human CEnC (hCEnC) lines expressing wild type SLC4A11 (SLC4A11WT) or mutant SLC4A11 harboring CHED-/FECD4-associated SLC4A11 mutations (SLC4A11MU)...
2024: PloS One
#6
JOURNAL ARTICLE
Andrea Rodríguez Esquíroz, Lorea Sanz Álvarez, Marta Marín Marín, Patricia García González, Paula Aldave Cobos, Javier Garjón Parra
BACKGROUND: The oral antiviral nirmatrelvir/ritonavir interacts with a range of drugs. Candidate patients to receive this antiviral agent are usually vulnerable, multipathological and polymedicated. The objective is to evaluate the pharmaceutical validation prior to the administration of the antiviral. MATERIAL AND METHODS: Nirmatrelvir/ritonavir drug-drug interactions to patients' usual treatment medications were checked in product information and in the UpToDate® and the University of Liverpool® interaction tools...
December 26, 2023: Anales del Sistema Sanitario de Navarra
#7
JOURNAL ARTICLE
Juan Eduardo Quiroz-Aldave, María Del Carmen Durand-Vasquez, Freddy Shanner Chávez-Vásquez, Alexandra Noelia Rodríguez-Angulo, Sonia Elizabeth Gonzáles-Saldaña, Carlos César Alcalde-Loyola, Julia Cristina Coronado-Arroyo, Francisca Elena Zavaleta-Gutiérrez, Luis Alberto Concepción-Urteaga, Juan Carlos Haro-Varas, Marcio José Concepción-Zavaleta
INTRODUCTION: Ifosfamide is an alkylating chemotherapeutic agent used in the treatment of various neoplasms. Its main adverse effects include renal damage. AREAS COVERED: A comprehensive review was conducted, including 100 articles from the Scielo, Scopus, and EMBASE databases. Ifosfamide-induced nephrotoxicity is attributed to its toxic metabolites, such as acrolein and chloroacetaldehyde, which cause mitochondrial damage and oxidative stress in renal tubular cells...
November 30, 2023: Expert Review of Anticancer Therapy
#8
JOURNAL ARTICLE
Karynne Patterson, Jessica X Chong, Doug D Chung, Walter Lisch, Hans U Møller, Carol L Karp, Erling Dreisler, David Lockington, Jens M Rohrbach, Dorota Garczarczyk-Asim, Thomas Müller, Stephen J Tuft, Pavlina Skalicka, Yael Wilnai, Nadra Naser Samra, Ali Ibrahim, Hanna Mandel, Alice E Davidson, Petra Liskova, Anthony J Aldave, Michael J Bamshad, Andreas R Janecke
PURPOSE: To report the genetic etiology of Lisch epithelial corneal dystrophy (LECD). DESIGN: Multicenter cohort study. METHODS: A discovery cohort of 27 individuals with LECD from 17 families, including seven affected members from the original LECD family, six patients from two new families and 14 simplex cases, was recruited. A cohort of six individuals carrying a pathogenic MCOLN1 (mucolipin 1) variant was reviewed for signs of LECD. Next-generation sequencing or targeted Sanger sequencing were used in all patients to identify pathogenic/likely pathogenic variants and penetrance of variants...
November 14, 2023: American Journal of Ophthalmology
#9
JOURNAL ARTICLE
Vinícius G Garcia, Nathanael N Batista, Diego A Aldave, Rodrigo B Capaz, Juan José Palacios, Marcos G Menezes, Wendel S Paz
High-performance nanosized optoelectronic devices based on van der Waals (vdW) heterostructures have significant potential for use in a variety of applications. However, the investigation of nanoribbon-based vdW heterostructures are still mostly unexplored. In this study, based on first-principles calculations, we demonstrate that a Sb2 S3 /Sb2 Se3 vdW heterostructure, which is formed by isostructural nanoribbons of stibnite (Sb2 S3 ) and antimonselite (Sb2 Se3 ), possesses a direct band gap with a typical type-II band alignment, which is suitable for optoelectronics and solar energy conversion...
November 15, 2023: ACS Applied Materials & Interfaces
#10
JOURNAL ARTICLE
Marianne E Nellis, Oliver Karam, Guillermo Aldave, Brandon G Rocque, David F Bauer
OBJECTIVES: To report pediatric intensivists' and pediatric neurosurgeons' responses to case-based scenarios about plasma and platelet transfusions before intracranial pressure (ICP) monitor placement in children with severe traumatic brain injury (TBI). DESIGN: Cross-sectional, electronic survey to evaluate reported plasma and platelet transfusion decisions in eight scenarios of TBI in which ICP monitor placement was indicated. SETTING: Survey administered through the Pediatric Acute Lung Injury and Sepsis Investigators and the American Association of Neurologic Surgeons...
November 15, 2023: Pediatric Critical Care Medicine
#11
JOURNAL ARTICLE
A Basit Khan, Huy Q Dang, Sricharan Gopakumar, Tyler Lazaro, Nisha Gadgil, Patricia Baxter, Fatema Malbari, Guillermo Aldave
INTRODUCTION: Diffuse midline glioma (DMG) of the pons occurs in pediatric patients and carries a dismal prognosis. Biopsy is not necessary for diagnosis but provides information, particularly H3K27M status, with prognostic implications. Additionally, biopsy information may open therapeutic options such as clinical trials that require mutation status. Therefore, we sought to assess the safety of surgical biopsy in DMG patients as well as its potential impact on clinical course. METHODS: Retrospective analysis of patients who were radiographically and clinically diagnosed with pontine DMG in the last 5 years was performed...
November 2023: Journal of Neuro-oncology
#12
REVIEW
Marcio José Concepción-Zavaleta, Julia Cristina Coronado-Arroyo, Juan Eduardo Quiroz-Aldave, Luis Alberto Concepción-Urteaga, José Paz-Ibarra
INTRODUCTION: Female infertility is defined as the inability to achieve pregnancy following one year of consistent, unprotected sexual intercourse. Among the various endocrine factors contributing to this complex issue, thyroid dysfunction assumes a pivotal and noteworthy role. METHODS: A narrative review, encompassing 134 articles up to 2023, was conducted utilizing the PubMed/Medline, EMBASE, and Scielo databases. The primary focus of this review was to investigate the effects of thyroid dysfunction on female infertility...
November 2023: Diabetes & Metabolic Syndrome
#13
JOURNAL ARTICLE
Kavya Jatavallabhula, Onyinye Onyia, Doug D Chung, Dominic Williams, Kaidi Wang, Anthony J Aldave
PURPOSE: The aim of this study was to report a novel heterozygous variant c.1712G>T (p.Gly571Val) in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain-containing 3 gene (NLRP3) in a previously unreported non-Finnish individual with keratitis fugax hereditaria (KFH). METHODS: Ophthalmologic examination of the proband was performed with slit-lamp biomicroscopy and anterior segment optical coherence tomography. Saliva was collected as a source of DNA, after which targeted exome sequencing of candidate genes was performed using a commercially available panel...
October 11, 2023: Cornea
#14
REVIEW
Marcio José Concepción-Zavaleta, Juan Eduardo Quiroz-Aldave, María Del Carmen Durand-Vásquez, Elman Rolando Gamarra-Osorio, Juan Del Carmen Valencia de la Cruz, Claudia Mercedes Barrueto-Callirgos, Susan Luciana Puelles-León, Elena de Jesús Alvarado-León, Frans Leiva-Cabrera, Francisca Elena Zavaleta-Gutiérrez, Luis Alberto Concepción-Urteaga, José Paz-Ibarra
BACKGROUND: Obesity is a multifactorial chronic disease with a high, increasing worldwide prevalence. Genetic causes account for 7% of the cases in children with extreme obesity. DATA SOURCES: This narrative review was conducted by searching for papers published in the PubMed/MEDLINE, Embase and SciELO databases and included 161 articles. The search used the following search terms: "obesity", "obesity and genetics", "leptin", "Prader-Willi syndrome", and "melanocortins"...
September 19, 2023: World Journal of Pediatrics: WJP
#15
REVIEW
Juan Eduardo Quiroz-Aldave, Marcio José Concepción-Zavaleta, María Del Carmen Durand-Vásquez, Luis Alberto Concepción-Urteaga, Elman Rolando Gamarra-Osorio, Jacsel Suárez-Rojas, Luciana Del Pilar Rafael-Robles, José Paz-Ibarra, Alejandro Román-González
INTRODUCTION: Refractory hypothyroidism (RH) represents a challenge in the diagnosis and treatment within the field of thyroidology. It is defined as the inability to achieve disease control despite using levothyroxine (LT4) doses of 1.9 μg/kg/d or higher. METHODS: A comprehensive review, encompassing 103 articles, was conducted using the Scielo, Scopus, and EMBASE databases, providing an approach to evaluation and diagnosis of this condition. RESULTS: LT4 disintegrates and dissolves within an acidic gastric environment before being absorbed in the jejunum and ileum...
December 2023: Endocrine Practice
#16
REVIEW
Marcio José Concepción-Zavaleta, Julia Cristina Coronado-Arroyo, Juan Eduardo Quiroz-Aldave, María Del Carmen Durand-Vásquez, Sofía Pilar Ildefonso-Najarro, Luciana Del Pilar Rafael-Robles, Luis Alberto Concepción-Urteaga, Elman Rolando Gamarra-Osorio, Jacsel Suárez-Rojas, José Paz-Ibarra
INTRODUCTION: Infertility is defined as the inability to conceive after unprotected sexual intercourse for at least 12 consecutive months. Our objective is to present an updated narrative review on the endocrine causes of infertility in women. AREAS COVERED: A comprehensive review was conducted using Scielo, Scopus, and EMBASE databases, comprising 245 articles. The pathophysiology of infertility in women was described, including endocrinopathies such as hypothalamic amenorrhea, hyperprolactinemia, polycystic ovary syndrome, primary ovarian insufficiency, obesity, thyroid dysfunction, and adrenal disorders...
2023: Expert Review of Endocrinology & Metabolism
#17
JOURNAL ARTICLE
Guillermo Aldave, M Fatih Okcu, Lucia Ruggieri, Arnold C Paulino, Susan McGovern, William Whitehead, Howard L Weiner, Murali Chintagumpala
OBJECTIVE: The role of surgery in recurrent ependymomas and its contribution to the outcome are not well defined. While gross-total resection (GTR) has shown benefit in newly diagnosed patients with improvement in progression-free survival (PFS), its impact after recurrence is not known. Its role in distant relapses or multiple local recurrences is similarly less well understood. The objective of this study was to investigate whether GTR could prolong survival after recurrence. METHODS: In this paper, the authors identified patients with ependymomas who underwent surgery at Texas Children's Hospital for recurrent ependymomas between December 2000 and December 2021...
September 1, 2023: Journal of Neurosurgery. Pediatrics
#18
REVIEW
Almudena Zapatero, Antonio José Conde Moreno, Marta Barrado Los Arcos, Diego Aldave
Within the oligometastatic state, oligorecurrent lymph node disease in prostate cancer represents an interesting clinical entity characterized by a relatively indolent biology that makes it unique: it can be treated radically, and its treatment is usually associated with a long period of control and excellent survival. Additionally, it is an emergent situation that we are facing more frequently mainly due to (a) the incorporation into clinical practice of the PSMA-PET that provides strikingly increased superior images in comparison to conventional imaging, with higher sensitivity and specificity; (b) the higher detection rates of bone and node disease with extremely low levels of PSA; and (c) the availability of high-precision technology in radiotherapy treatments with the incorporation of stereotaxic body radiotherapy (SBRT) or stereotaxic ablative radiotherapy (SABR) technology that allows the safe administration of high doses of radiation in a very limited number of fractions with low toxicity and excellent tolerance...
August 17, 2023: Cancers
#19
JOURNAL ARTICLE
Kirk K Hou, Anthony J Aldave, Allan E Kreiger
PURPOSE: We report a case of silicone oil placement after Boston Type 1 keratoprosthesis implantation for improvement and maintenance of intraocular pressure in a patient with chronic hypotony secondary to chronic uveitis. METHODS: Observational case report. RESULTS: A 54-year-old female with a history of bilateral chronic panuveitis and subsequent hypotony presented with progressive corneal decompensation and band keratopathy in her better-seeing left eye...
August 15, 2023: Retinal Cases & Brief Reports
#20
JOURNAL ARTICLE
Esen Karamursel Akpek, Anthony J Aldave, Guillermo Amescua, Kathryn A Colby, Maria S Cortina, Jose de la Cruz, Jean-Marie A Parel, Gavin Li
PURPOSE: To report the biological stability and postoperative outcomes of a second-generation, single-piece, flexible synthetic cornea in a rabbit model. METHODS: Device materials and design were amended to enhance biointegration. Optic skirt design devices were made from compact perfluoroalkoxy alkane with porous expanded polytetrafluoroethylene ingrowth surface overlying the skirt and optic wall. Sixteen devices were implanted into intrastromal pocket in rabbit eyes...
August 1, 2023: Translational Vision Science & Technology
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