Sofía Zoullas

University of Miami

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Luis G. Guijarro

Universidad de Alcalá

MÁ

Miguel Á. Ortega

Universidad de Alcalá

MÁ

Melchor Álvarez‐Mon

Universidad de Alcalá

M. Val Toledo-Lobo

Universidad de Alcalá

Patricia Sanmartín-Salinas

Universidad de Alcalá

MÁ

Miguel Ángel Álvarez-Mon

Hospital Universitario Infanta Leonor

Kavita Kasat

Northwell Health

Marty Ellington

Lenox Hill Hospital

Julia Buján

Universidad de Alcalá

Jorge Monserrat

Instituto Cajal

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Inserm

Universidad de Alcalá

Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas

Assistance Publique – Hôpitaux de Paris

Université Paris Cité

Instituto Ramón y Cajal de Investigación Sanitaria

Instituto Cajal

Centro de Investigación Biomédica en Red

Instituto de Salud Carlos III

Génétique Médicale & Génomique Fonctionelle

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Table of Contents, Volume 194A, Number 4, April 2024

American Journal of Medical Genetics Part A (2024)

Drake Carter Ola Kierzkowska Kathleen Sarino Lily Guo Elaine Marchi

Table (database)

Table of contents

10.1002/ajmg.a.63267

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Relationship between IGF-1 and body weight in inflammatory bowel diseases: Cellular and molecular mechanisms involved

Biomedicine & Pharmacotherapy (2021)

Luis G. Guijarro D. Cano-Martínez M. Val Toledo-Lobo Patricia Sanmartín-Salinas María Chaparro

Inflammatory bowel diseases (IBD), represented by ulcerative colitis (UC) and Crohn's disease (CD), are characterized by chronic inflammation of the gastrointestinal tract, what leads to diarrhea, malnutrition, and weight loss. Depression of the growth hormone-insulin-like growth factor-1 axis (GH-IGF-1 axis) could be responsible of these symptoms. We demonstrate that long-term treatment (54 weeks) of adult CD patients with adalimumab (ADA) results in a decrease in serum IGF-1 without changes in serum IGF-1 binding protein (IGF1BP4). These results prompted us to conduct a preclinical study to test the efficiency of IGF-1 in the medication for experimental colitis. IGF-1 treatment of rats with DSS-induced colitis has a beneficial effect on the following circulating biochemical parameters: glucose, albumin, and total protein levels. In this experimental group we also observed healthy maintenance of colon size, body weight, and lean mass in comparison with the DSS-only group. Histological analysis revealed restoration of the mucosal barrier with the IGF-1 treatment, which was characterized by healthy quantities of mucin production, structural maintenance of adherers junctions (AJs), recuperation of E-cadherin and β-catenin levels and decrease in infiltrating immune cells and in metalloproteinase-2 levels. The experimentally induced colitis caused activation of apoptosis markers, including cleaved caspase 3, caspase 8, and PARP and decreases cell-cycle checkpoint activators including phosphorylated Rb, cyclin E, and E2F1. The IGF-1 treatment inhibited cyclin E depletion and partially protects PARP levels. The beneficial effects of IGF-1 in experimental colitis could be explained by a re-sensitization of the IGF-1/IRS-1/AKT cascade to exogenous IGF-1. Given these results, we postulate that IGF-1 treatment of IBD patients could prove to be successful in reducing disease pathology.

Depression

Inflammatory Bowel Diseases

10.1016/j.biopha.2021.112239

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P861: Newborn screening for Pompe disease in South Florida: The clinical experience

Genetics in Medicine Open (2024)

William McGonigle Paulo Borjas‐Mendoza Sofía Zoullas Rosa María Baños Rivera Deborah Barbouth

Pompe disease (PD) is an autosomal recessive condition caused by GAA gene variants that affects lysosomal enzyme production, acid alpha-glucosidase (GAA), leading to glycogen buildup in the organelle. There are two distinct presentations of the disease: Infantile Onset (IOPD) with severe symptoms in infancy and Late Onset (LOPD) with progressive muscle affection and breathing difficulties at any age. Several countries and US states have included PD into their Newborn Screening (NBS) programs since the advent of treatments that decrease disease morbidity and mortality.

10.1016/j.gimo.2024.101775

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P370: Newborn screening for spinal muscular atrophy in South Florida: The clinical experience

Genetics in Medicine Open (2023)

Sofía Zoullas Deborah Barbouth Roberto Lopez-Alberola

10.1016/j.gimo.2023.100398

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P371: Initial evaluation of newborn screening for X-linked adrenoleukodystrophy in South Florida

Genetics in Medicine Open (2023)

Sofía Zoullas Deborah Barbouth Paulo Borjas Mendoza Stephanie Bivona Willa Thorson

Adrenoleukodystrophy

10.1016/j.gimo.2023.100399

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Impact of New Evidence-Based Sepsis Guidelines on Breastfeeding Rates

PEDIATRICS (2019)

Kavita Kasat Marty Ellington Seungjun Ahn Shayla Smith Sofía Zoullas

Purpose: Traditional management of asymptomatic full term neonates with risk factors for early-onset sepsis has potentially negatively affected maternal-infant bonding and breastfeeding success. Beginning in January 2016, the Lenox Hill Hospital NICU adopted new evidence-based early-onset sepsis guidelines for the evaluation of asymptomatic full term neonates. While the length of stay in the NICU was decreased to just hours in some cases, overall antibiotic utilization did not decrease. In June 2017, the guidelines were modified using the Kaiser Permanente Neonatal Early-Onset Sepsis Calculator to further stratify risk of sepsis. Infants …

Full Term

10.1542/peds.144.2_meetingabstract.262

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Chronic venous disease patients show increased IRS-4 expression in the great saphenous vein wall

Journal of International Medical Research (2021)

Miguel Á. Ortega Oscar Fraile‐Martínez Cielo García‐Montero Fernando Ruiz-Grande Silvestra Barrena-Blázquez

Objectives Chronic venous disease (CVeD) is a multifactorial and debilitating condition that has a high prevalence in Western countries and an important associated socioeconomic burden. Varicose veins (VVs) are the most common manifestations of CVeD. Pathologically, many morphological and functional changes have been described in VVs, which most notably affect venous wall integrity. Previous studies have found several molecular alterations that negatively affect normal cell signaling pathways. Insulin receptor substrate (IRS)-4 is a central adaptor protein that is closely related to insulin/insulin-like growth factor-1 signaling upstream, phosphatidylinositol 3-kinase/Akt or mitogen-activated protein kinases downstream, and other proteins. These molecular pathways have been implicated in CVeD pathogenesis. Thus, the aim of our study was to identify the role of IRS-4 in VV tissue. Methods We conducted a histopathological study to analyze IRS-4 protein expression in CVeD patients compared with healthy controls. Results Our results demonstrate a significant increase in IRS-4 expression in VV tissue. Conclusions IRS-4 may be implicated in CVeD development and progression. Therefore, IRS-4 could be a potential diagnostic or therapeutic target for patients with this condition.

Pathogenesis

P110α

10.1177/03000605211041275

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Examination of Idiopathic Intracranial Hypertension in the All of Us National Data Repository: A Prospective Genetic Investigation (P1-12.009)

Neurology (2024)

Sofía Zoullas Anthony J. Griswold Liza Smirnoff

Identify a cohort of subjects with idiopathic intracranial hypertension (IIH) within the All of Us (AoU) database in order to conduct a genome-wide association study (GWAS).

Genetic data

10.1212/wnl.0000000000204697

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Actinomycin D Arrests Cell Cycle of Hepatocellular Carcinoma Cell Lines and Induces p53-Dependent Cell Death: A Study of the Molecular Mechanism Involved in the Protective Effect of IRS-4

Pharmaceuticals (2021)

Luis G. Guijarro Patricia Sanmartín-Salinas Eva P. Cuevas M. Val Toledo-Lobo Jorge Monserrat

Actinomycin D (ActD) is an FDA-approved NCI oncology drug that specifically targets and downregulates stem cell transcription factors, which leads to a depletion of stem cells within the tumor bulk. Recently, our research group demonstrated the importance of IRS-4 in the development of liver cancer. In this study, we evaluated the protective effects of IRS-4 against ActD. For this study, three hepatocellular carcinoma cell lines (HepG2, Huh7, and Chang cells) were used to study the mechanism of actinomycin D. Most assays were carried out in the Hep G2 cell line, due to the high expression of stem cell biomarkers. We found that ActD caused HepG2 cell necroptosis characterized by DNA fragmentation, decreased mitochondrial membrane potential, cytochrome c depletion, and decreased the levels of reduced glutathione. However, we did not observe a clear increase in apoptosis markers such as annexin V presence, caspase 3 activation, or PARP fragmentation. ActD produced an activation of MAP kinases (ERK, p38, and JNK) and AKT. ActD-induced activation of AKT and MAP kinases produced an activation of the Rb-E2F cascade together with a blockage of cell cycle transitions, due to c-jun depletion. ActD led to the inhibition of pCdK1 and pH3 along with DNA fragmentation resulting in cell cycle arrest and the subsequent activation of p53-dependent cell death in the HepG2 cell line. Only JNK and AKT inhibitors were protective against the effects of ActD. N-Acetyl-L-cysteine also had a protective effect as it restored GSH levels. A likely mechanism for this is IRS-4 stimulating GCL-GSH and inhibiting the Brk-CHK1-p53 pathway. The assessment of the IRS-4 in cancer biopsies could be of interest to carry out a personalized treatment with ActD.

10.3390/ph14090845

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Citations (8)

Impact of New Evidence-Based Sepsis Guidelines on Breastfeeding Rates

PEDIATRICS (2019)

Kavita Kasat Marty Ellington Seungjun Ahn Shayla Smith Sofía Zoullas

10.1542/peds.144.2ma3.262

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