Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether patients with CHED go on to develop hearing loss and whether their parents, who are carriers of an SLC4A11 mutation, show signs of having FECD. Methods: Patients with CHED were screened for mutations in the SLC4A11 gene and underwent audiometric testing. The patients and their parents underwent a clinical examination and specular microscopy. Results: Molecular analyses confirmed SLC4A11 mutations in 4 affected individuals from 3 families. All the patients were found to have varying degrees of sensorineural hearing loss at a higher frequency range. Guttate lesions were seen in 2 of the 4 parents who were available for examination. Conclusions: Our observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably. Patients with CHED should therefore be monitored for progressive hearing loss. We could not determine conclusively whether the parents of the patients with CHED were at increased risk of developing late-onset FECD

Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study

Background Multisystem inflammatory syndrome in children (MIS-C), a hyperinflammatory condition associated with SARS-CoV-2 infection, has emerged as a serious illness in children worldwide. Immunoglobulin or glucocorticoids, or both, are currently recommended treatments. Methods The Best Available Treatment Study evaluated immunomodulatory treatments for MIS-C in an international observational cohort. Analysis of the first 614 patients was previously reported. In this propensity-weighted cohort study, clinical and outcome data from children with suspected or proven MIS-C were collected onto a web-based Research Electronic Data Capture database. After excluding neonates and incomplete or duplicate records, inverse probability weighting was used to compare primary treatments with intravenous immunoglobulin, intravenous immunoglobulin plus glucocorticoids, or glucocorticoids alone, using intravenous immunoglobulin as the reference treatment. Primary outcomes were a composite of inotropic or ventilator support from the second day after treatment initiation, or death, and time to improvement on an ordinal clinical severity scale. Secondary outcomes included treatment escalation, clinical deterioration, fever, and coronary artery aneurysm occurrence and resolution. This study is registered with the ISRCTN registry, ISRCTN69546370. Findings We enrolled 2101 children (aged 0 months to 19 years) with clinically diagnosed MIS-C from 39 countries between June 14, 2020, and April 25, 2022, and, following exclusions, 2009 patients were included for analysis (median age 8·0 years [IQR 4·2–11·4], 1191 [59·3%] male and 818 [40·7%] female, and 825 [41·1%] White). 680 (33·8%) patients received primary treatment with intravenous immunoglobulin, 698 (34·7%) with intravenous immunoglobulin plus glucocorticoids, 487 (24·2%) with glucocorticoids alone; 59 (2·9%) patients received other combinations, including biologicals, and 85 (4·2%) patients received no immunomodulators. There were no significant differences between treatments for primary outcomes for the 1586 patients with complete baseline and outcome data that were considered for primary analysis. Adjusted odds ratios for ventilation, inotropic support, or death were 1·09 (95% CI 0·75–1·58; corrected p value=1·00) for intravenous immunoglobulin plus glucocorticoids and 0·93 (0·58–1·47; corrected p value=1·00) for glucocorticoids alone, versus intravenous immunoglobulin alone. Adjusted average hazard ratios for time to improvement were 1·04 (95% CI 0·91–1·20; corrected p value=1·00) for intravenous immunoglobulin plus glucocorticoids, and 0·84 (0·70–1·00; corrected p value=0·22) for glucocorticoids alone, versus intravenous immunoglobulin alone. Treatment escalation was less frequent for intravenous immunoglobulin plus glucocorticoids (OR 0·15 [95% CI 0·11–0·20]; p<0·0001) and glucocorticoids alone (0·68 [0·50–0·93]; p=0·014) versus intravenous immunoglobulin alone. Persistent fever (from day 2 onward) was less common with intravenous immunoglobulin plus glucocorticoids compared with either intravenous immunoglobulin alone (OR 0·50 [95% CI 0·38–0·67]; p<0·0001) or glucocorticoids alone (0·63 [0·45–0·88]; p=0·0058). Coronary artery aneurysm occurrence and resolution did not differ significantly between treatment groups. Interpretation Recovery rates, including occurrence and resolution of coronary artery aneurysms, were similar for primary treatment with intravenous immunoglobulin when compared to glucocorticoids or intravenous immunoglobulin plus glucocorticoids. Initial treatment with glucocorticoids appears to be a safe alternative to immunoglobulin or combined therapy, and might be advantageous in view of the cost and limited availability of intravenous immunoglobulin in many countries. Funding Imperial College London, the European Union's Horizon 2020, Wellcome Trust, the Medical Research Foundation, UK National Institute for Health and Care Research, and National Institutes of Health

Estudio del mecanismo responsable de la superconductividad en los óxidos de cobre superconductores de itrio y lantano

IP 1101-05-402-93ARTICULO(S) EN REVISTA: Calculo de correlaciones entre TCy laspropiedades electronicas y fononicas en los;nuevos superconductores / Jairo Giraldo, R. Baquero - En:Revista Colombiana de Fisica No. 27 (1995); p.;595-598 - Thermoelectric power of (Bi-Pb)SrCaCuO superconductingthin films / J.E Rodriguez, A. Mariño, Jairo;Giraldo, H. Rodriguez - En: Revista Colombiana de Fisica Vol.28, no.2 (1996); p. 197-200 - Electron-phonon;enhancement of thermopower in si doped superconducting bicompounds / Jairo Giraldo, J. E Rodriguez, A. Mariño;- En: Revista Colombiana de Fisica No. 28 (1996); p. 189-1-92Optical andstructural properties of Cd1-iZniTe;for high Zn concentrations / J.J Perez Bueno, M. E Rodriguez,L.Baños, O.Zelaya-Angel, Jairo Giraldo - En:;Revista Colombiana de Fisica vol. 29 No. 2 (1997); p. 207-210-Incrementoen la interaccion e-ph en;compuestos superconductores de BSCCO dopados con Si y Ag /J.ERodriguez,A . Mariño, J. Giraldo - En: Revista;Colombiana de Fisica vol. 29 No. 2 (1997); p. 231-234 - Estudioelectronico del C60 con un modelo de ruptura;de la simetria esferica a la icosaedrica / F. Alonso, J. JGiraldo - En: Revista Colombiana de Fisica vol. 30;No 1 (1998); p. 173-176 - Some tracks to a conventional approachin the cuprates / Jairo Giraldo - En: Revista;Colombiana de Fisica vol. 30 No 1 (1998); p.177-180 - Breve historia de lasuperconductividad de alta;temperatura critica / Jairo Giraldo Gallo - En: Momento Revistadel departamento de Fisica Universidad;Nacional de Colombia No. 9 (abril : 1995); p. 52-63 - Algunosproblemas conceptuales y metodologicos en la;superconductividad de alta temperatura critica / Jairo GiraldoGallo - En:Momentos Revista del departamento;de Fisica Universidad Nacional de Colombia No 9 (abril : 1995);p. 64-78 -Calculated bonding, structural, and;vibrational properties of YBa2Cu3-xCoxO7 / U. Yxklinten, JairoGiraldo, K.Holmlund - En: Physica C. No 234;(1994); p. 295-299 - CAPITULO(S) EN LIBRO: Tight-binding calculation of the van hove singularity shift from;the fermi level as a function of x for La2-xBaxCuO4 / Jairo Giraldo, R. Baquero. - p. 135-142. -- En:;Manifestation of the E-Ph interaction - proceedings of the2 nd(CINVESTAV) superconductivity symposium -;Mexico : 1994. : il. ; 29 cm. - ISBN 9810215452 - ARTICULO(S)ENREVISTA:Lattice properties of YBa2Cu3-xCoxO7;: pilot calculation using effective medium theory / JairoGiraldo, U. Yxklinten - En: journal of;superconductivity vol. 8 No 1 (1995); p. 1-2 - Electron-phononcontribution to thermopower in si-doped;superconducting bi compounds / Jairo Giraldo, J. E Rodriguez,A.Mariño -En: Physical Review B. VOL. 56 No 5;(1997 : aug. 1); p. 2383-2386 - Transport and structural properties of YBa2Cu3O7-g thin films and bulk samples;as a function of oxygen content - En: Friday morning vol.43 No1 (1998);p. 964 - EMT Applied to complex;systems: lattice properties of YBa2Cu3-xCoxO7 / Jairo Giraldo,Uno Yxklinten - En: American institute of;Physics (1996); p. 461-465. - Termopower and lattice parametersof YBa2Cu3O7-g thin films as a function of;oxygen content / Jairo Giraldo, A. Pulzara, P. Prieto, M.Chacon'- en: Revista Mexicana de Fisica No 44 sup.;(1998 : dic); p. 202-207 - Electron-phonon enhancement ofthermopower in silver-doped superconducting bi;compounds / J. E. Rodriguez, A. Mariño, Jairo Giraldo - En: Physica C. 282-287 (1997); p. 1253-1254 - An;aproximation to the optical absorption spectra of the ternarycompound ZnSexTe1-x / J. C Salcedo, Jairo;Giraldo, A. Camacho - En: Revista Mexicana de Fisica No. 44 sup.(1998 : dic.); p. 119-121. - Electronic and;vibrational properties of the C60 molecule / F. Alonso Marroquin, Jairo Giraldo, A.Calles, J. J Castro - En:;Revista Mexicana de Fisica No 44 sup. (1998 : dic); p. 18-21

La investigación universitaria y sus contribuciones en Mesoamérica

La Universidad Autónoma de Chiapas a través de su Proyecto Académico 2014-2018, reafirma su compromiso con el desarrollo de nuestra región, al establecer líneas de desarrollo de nuestra región, al establecer líneas de desarrollo institucional, donde la vinculación de la investigación ocupa un lugar preponderante; en este sentido, a partir de 2015, junto con la comunidad académica internacional, se unió a la Agenda 2030 para el Desarrollo sostenible de la ONU y priorizó los 17 Objetivos de Desarrollo Sostenible (ODS) y sus 169 metas, con la finalidad de dar soluciona los grandes desafíos sociales, económicos y medioambientales que enfrenta la sociedad. Este libro es la recopilación de trabajos realizados por académicos de diversas Instituciones de Educación Superior y Centros de Investigación, de manera multidisciplinaria, interinstitucional e internacional, los cuales han permitido compartir intereses en diversas líneas de generación y aplicación del conocimiento

La investigación universitaria y sus contribuciones en Mesoamérica

La Universidad Autónoma de Chiapas a través de su Proyecto Académico 2014-2018, reafirma su compromiso con el desarrollo de nuestra región, al establecer líneas de desarrollo de nuestra región, al establecer líneas de desarrollo institucional, donde la vinculación de la investigación ocupa un lugar preponderante; en este sentido, a partir de 2015, junto con la comunidad académica internacional, se unió a la Agenda 2030 para el Desarrollo sostenible de la ONU y priorizó los 17 Objetivos de Desarrollo Sostenible (ODS) y sus 169 metas, con la finalidad de dar soluciona los grandes desafíos sociales, económicos y medioambientales que enfrenta la sociedad. Este libro es la recopilación de trabajos realizados por académicos de diversas Instituciones de Educación Superior y Centros de Investigación, de manera multidisciplinaria, interinstitucional e internacional, los cuales han permitido compartir intereses en diversas líneas de generación y aplicación del conocimiento

Risk of COVID-19 after natural infection or vaccinationResearch in context

Summary: Background: While vaccines have established utility against COVID-19, phase 3 efficacy studies have generally not comprehensively evaluated protection provided by previous infection or hybrid immunity (previous infection plus vaccination). Individual patient data from US government-supported harmonized vaccine trials provide an unprecedented sample population to address this issue. We characterized the protective efficacy of previous SARS-CoV-2 infection and hybrid immunity against COVID-19 early in the pandemic over three-to six-month follow-up and compared with vaccine-associated protection. Methods: In this post-hoc cross-protocol analysis of the Moderna, AstraZeneca, Janssen, and Novavax COVID-19 vaccine clinical trials, we allocated participants into four groups based on previous-infection status at enrolment and treatment: no previous infection/placebo; previous infection/placebo; no previous infection/vaccine; and previous infection/vaccine. The main outcome was RT-PCR-confirmed COVID-19 >7–15 days (per original protocols) after final study injection. We calculated crude and adjusted efficacy measures. Findings: Previous infection/placebo participants had a 92% decreased risk of future COVID-19 compared to no previous infection/placebo participants (overall hazard ratio [HR] ratio: 0.08; 95% CI: 0.05–0.13). Among single-dose Janssen participants, hybrid immunity conferred greater protection than vaccine alone (HR: 0.03; 95% CI: 0.01–0.10). Too few infections were observed to draw statistical inferences comparing hybrid immunity to vaccine alone for other trials. Vaccination, previous infection, and hybrid immunity all provided near-complete protection against severe disease. Interpretation: Previous infection, any hybrid immunity, and two-dose vaccination all provided substantial protection against symptomatic and severe COVID-19 through the early Delta period. Thus, as a surrogate for natural infection, vaccination remains the safest approach to protection. Funding: National Institutes of Health

Risk of COVID-19 after natural infection or vaccinationResearch in context

Background: While vaccines have established utility against COVID-19, phase 3 efficacy studies have generally not comprehensively evaluated protection provided by previous infection or hybrid immunity (previous infection plus vaccination). Individual patient data from US government-supported harmonized vaccine trials provide an unprecedented sample population to address this issue. We characterized the protective efficacy of previous SARS-CoV-2 infection and hybrid immunity against COVID-19 early in the pandemic over three-to six-month follow-up and compared with vaccine-associated protection. Methods: In this post-hoc cross-protocol analysis of the Moderna, AstraZeneca, Janssen, and Novavax COVID-19 vaccine clinical trials, we allocated participants into four groups based on previous-infection status at enrolment and treatment: no previous infection/placebo; previous infection/placebo; no previous infection/vaccine; and previous infection/vaccine. The main outcome was RT-PCR-confirmed COVID-19 >7–15 days (per original protocols) after final study injection. We calculated crude and adjusted efficacy measures. Findings: Previous infection/placebo participants had a 92% decreased risk of future COVID-19 compared to no previous infection/placebo participants (overall hazard ratio [HR] ratio: 0.08; 95% CI: 0.05–0.13). Among single-dose Janssen participants, hybrid immunity conferred greater protection than vaccine alone (HR: 0.03; 95% CI: 0.01–0.10). Too few infections were observed to draw statistical inferences comparing hybrid immunity to vaccine alone for other trials. Vaccination, previous infection, and hybrid immunity all provided near-complete protection against severe disease. Interpretation: Previous infection, any hybrid immunity, and two-dose vaccination all provided substantial protection against symptomatic and severe COVID-19 through the early Delta period. Thus, as a surrogate for natural infection, vaccination remains the safest approach to protection. Funding: National Institutes of Health