☆ 4.6 Letter

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)

期刊

INTERNATIONAL JOURNAL OF CARDIOLOGY

卷 165, 期 3, 页码 584-587

出版社

ELSEVIER IRELAND LTD

DOI: 10.1016/j.ijcard.2012.09.029

关键词

TGF-beta; Genetics; Thoracic aortic aneurysm; Mitral valve disease

类别

Cardiac & Cardiovascular Systems

向作者/读者索取更多资源

Protocol

Reagent

作者

我是这篇论文的作者

点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.6

评分不足

次要评分

新颖性

-

重要性

-

科学严谨性

-

评价这篇论文

推荐

Review Biochemistry & Molecular Biology

Pathophysiology and Therapeutics of Thoracic Aortic Aneurysm in Marfan Syndrome

Keiichi Asano, Anna Cantalupo, Lauriane Sedes, Francesco Ramirez

Summary: This article describes a series of studies on Marfan syndrome that have implicated endothelial dysfunction and improper angiotensin II and TGF beta signaling in driving thoracic aortic disease in Marfan syndrome mice. These investigations have influenced the conceptualization of possible new therapies to slow down or even halt aneurysm progression in this relatively common connective tissue disorder.

BIOMOLECULES (2022)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database

Jason P. Glotzbach, Heidi A. Hanson, Joseph E. Tonna, Joshua J. Horns, Chelsea McCarty Allen, Angela P. Presson, Claire L. Griffin, Megan Zak, Vikas Sharma, Martin Tristani-Firouzi, Craig H. Selzman

Summary: In this large-population study, familial associations of thoracic aortic disease and bicuspid aortic valve (BAV) were examined. The risk of developing the same disease was found to be higher in relatives of patients with BAV, as well as in those with thoracic aortic aneurysm or dissection. Additionally, relatives of individuals with these diagnoses had a higher risk of aortic-specific mortality compared to controls.

CIRCULATION (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Nitro-oleic acid reduces thoracic aortic aneurysm progression in a mouse model of Marfan syndrome

Felix Sebastian Nettersheim, Julian Lemties, Simon Braumann, Simon Geissen, Senai Bokredenghel, Richard Nies, Alexander Hof, Holger Winkels, Bruce A. Freeman, Anna Klinke, Volker Rudolph, Stephan Baldus, Dennis Mehrkens, Martin Mollenhauer, Matti Adam

Summary: This study found that Nitro-oleic acid can attenuate the progression of aortic dilation in Marfan syndrome by modulating multiple disease-mediating pathways.

CARDIOVASCULAR RESEARCH (2022)

添加到收藏夹

Article Medicine, Research & Experimental

A novel intramural TGF β 1 hydrogel delivery method to decrease murine abdominal aortic aneurysm and rat aortic pseudoaneurysm formation and progression

Hualong Bai, Peng Sun, Shunbo Wei, Boao Xie, Mingxing Li, Yanhua Xu, Wang Wang, Yuanfeng Liu, Liwei Zhang, Haoliang Wu, Zhiju Wang, Ying Xing, Zhiwei Wang, Jing'an Li

Summary: Intramural delivery of TGF beta 1 hydrogel can effectively decrease aneurysm and pseudoaneurysm formation and progression in both mice and rats, and pig aortas can also be successfully intramurally injected with hydrogel. This technique may be a promising drug delivery method and therapeutic choice to decrease aneurysm and pseudoaneurysm formation and progression in the clinic.

BIOMEDICINE & PHARMACOTHERAPY (2021)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

The fate of aortic valve after rheumatic mitral valve surgery

Hong Rae Kim, Wan Kee Kim, Ho Jin Kim, Joon Bum Kim, Sung -Ho Jung, Suk Jung Choo, Cheol Hyun Chung, Jae Won Lee

Summary: This study aims to quantify the occurrence of deterioration of native aortic valve function in patients who underwent rheumatic mitral valve surgery. The results show that progression to severe aortic valve dysfunction or requirement of subsequent aortic valve replacements is relatively uncommon, but more common among patients with mild or greater aortic valve dysfunction at baseline.

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY (2023)

添加到收藏夹

Article Biochemistry & Molecular Biology

Unraveling the role of TGFβ signaling in thoracic aortic aneurysm and dissection using Fbn1 mutant mouse models

Violette Deleeuw, Eric Carlson, Marjolijn Renard, Keith D. Zientek, Phillip A. Wilmarth, Ashok P. Reddy, Elise C. Manalo, Sara F. Tufa, Douglas R. Keene, Margie Olbinado, Marco Stampanoni, Sachiko Kanki, Hiromi Yanagisawa, Laura Muino Mosquera, Patrick Sips, Julie De Backer, Lynn Y. Sakai

Summary: This study investigates the role of TGF-beta signaling in different types of thoracic aortic diseases using mouse models and proteomics. The results suggest that reduced TGF-beta signaling is associated with microdissection, whereas increased TGF-beta signaling is associated with aneurysm and rupture.

MATRIX BIOLOGY (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Transcatheter Aortic Valve Replacement in Bicuspid Aortic Valve Stenosis

Flavien Vincent, Julien Ternacle, Tom Denimal, Mylene Shen, Bjorn Redfors, Cedric Delhaye, Matheus Simonato, Nicolas Debry, Basile Verdier, Bahira Shahim, Thibault Pamart, Hugues Spillemaeker, Guillaume Schurtz, Francois Pontana, Vinod H. Thourani, Philippe Pibarot, Eric Van Belle

Summary: TAVR is rapidly expanding its indications, but faces technical challenges and knowledge gaps when dealing with patients with bicuspid aortic valve (BAV). Physicians need to understand the BAV anatomy and TAVR procedure planning comprehensively to guide treatment decisions.

CIRCULATION (2021)

添加到收藏夹

Review Pharmacology & Pharmacy

Association of TGF-β Canonical Signaling-Related Core Genes With Aortic Aneurysms and Aortic Dissections

Jicheng Chen, Rong Chang

Summary: Transforming growth factor-beta (TGF-beta) signaling plays a crucial role in diseases of the aorta, but its mechanisms of action are still unclear. Researchers have made progress in understanding the role of canonical signaling-related core genes in disease by detecting gene mutations, utilizing animal models, and conducting in vitro studies.

FRONTIERS IN PHARMACOLOGY (2022)

添加到收藏夹

Review Genetics & Heredity

The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection

Jotte Rodrigues Bento, Josephina Meester, Ilse Luyckx, Silke Peeters, Aline Verstraeten, Bart Loeys

Summary: Genetic predisposition and risk factors such as hypertension and smoking can lead to the development of thoracic aortic aneurysm (TAA). Recent studies have identified monogenic defects in multiple genes and genetic modifiers and risk-conferring polymorphisms associated with TAA. Advances in omics technology have provided insights into various processes related to aortic wall degeneration, including inflammation, epigenetics, smooth muscle phenotype change, reactive oxygen species generation, mitochondrial dysfunction, and angiotensin signaling dysregulation. These findings open up possibilities for developing therapies that can halt or even reverse aneurysm progression.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

Laura Torres-Juan, Yolanda Rico, Elena Fortuny, Jaume Pons, Rafael Ramos, Fernando Santos-Simarro, Victor Asensio, Iciar Martinez, Damian Heine-Suner

Summary: Thoracic aortic aneurysms (TAA) are potentially lethal due to abnormal dilation of the ascending aorta. Congenital bicuspid aortic valve (BAV) is a risk factor, but little is known about the role of the NOTCH1 gene in TAA without BAV. We report two cases demonstrating NOTCH1 gene alterations as the cause of TAA without BAV.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Branched versus fenestrated thoracic endovascular aortic repair in the aortic arch: A multicenter comparison

Sven R. Hauck, Alexander Kupferthaler, Maximilian Kern, Herve Rousseau, Ciro Ferrer, Shinichi Iwakoshi, Shoji Sakaguchi, Marie-Elisabeth Stelzmuller, Marek Ehrlich, Christian Loewe, Martin A. Funovics

Summary: This study compared the results of two commercially available devices for branched thoracic endovascular aortic repair and fenestrated thoracic endovascular aortic repair. The results showed that both methods had excellent technical success and acceptable complication rates, but branched repair tended to have higher stroke rates. Meanwhile, fenestrated repair had a wider range of applicability.

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

LncRNA AK131850 is downregulated in thoracic aortic aneurysm and negatively affects the levels of TGF-β1 in aortic smooth muscle cells

Xiulei Cai, Yongqi Li, Shengjie Fu, Han Wang, Bing Liu, Yu Tian, Lei Li

Summary: This study found that lncRNA AK131850 is downregulated and TGF-beta 1 is upregulated in patients with thoracic aortic aneurysm (TAA). The expression levels of AK131850 and TGF-beta 1 can distinguish TAA patients from healthy controls. In human aortic smooth muscle cells, AK131850 overexpression promotes cell proliferation, while AK131850 silencing inhibits proliferation.

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY (2022)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Multimodality imaging assessment of bicuspid aortic valve disease, thoracic aortic ectasia, and thoracic aortic aneurysmal disease

Preethi Mani, Reza Reyaldeen, Bo Xu

Summary: Acute aortic syndromes have high mortality rates, particularly in patients with aortic dilation. Monitoring and measuring the thoracic aorta using various imaging modalities is crucial for timely interventions and to prevent progression to acute aortic syndromes. Despite lack of consensus on measurement techniques, a multimodality imaging strategy including echocardiography and cardiac computed tomography or magnetic resonance imaging is recommended for high-risk individuals.

CARDIOVASCULAR DIAGNOSIS AND THERAPY (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Apoptotic Cell Death in Bicuspid-Aortic-Valve-Associated Aortopathy

Sarah J. Barnard, Josephina Haunschild, Linda Heiser, Maja T. Dieterlen, Kristin Klaeske, Michael A. Borger, Christian D. Etz

Summary: This study analyzed the tissue of patients with bicuspid and tricuspid aortic valve, finding increased expression of RAGE, AGE, and S100A6 in bicuspid patients, which may promote apoptosis through upregulation of caspase-3 activity. Additionally, increased expression of the 48 kDa fragment of vimentin was detected in BAV patients, while increased expression of Bcl-2 was observed in TAV patients, suggesting better protection against apoptosis. Autophagy-related proteins p62 and ERK1/2 were increased in BAV patients, indicating a higher likelihood of apoptotic cell death in bicuspid tissue, leading to changes in the aortic wall and aortopathies.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Current Indications for Transcatheter Mitral Valve Replacement Using Transcatheter Aortic Valves Valve-in-Valve, Valve-in-Ring, and Valve-in-Mitral Annulus Calcification

Marina Urena, Alec Vahanian, Eric Brochet, Gregory Ducrocq, Bernard Iung, Dominique Himbert

Summary: The clinical use of TMVR using transcatheter aortic valves is limited to patients with failing bioprostheses or rings, and mitral valve disease associated with severe mitral annulus calcification. While valve-in-valve TMVR seems to be a reasonable alternative to surgery for high-risk patients, there is less evidence supporting valve-in-ring and valve-in-mitral annulus calcification interventions.

CIRCULATION (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

Marta Codina-Sola, Laura Trujillano, Anna Abuli, Eulalia Rovira-Moreno, Patricia Munoz-Cabello, Berta Campos, Paula Fernandez-alvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-Gonzalez, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernandez, Judith Balmana, Orland Diez, Ivon Cusco, Elena Garcia-Arumi, Eduardo Fidel Tizzano

Summary: This study investigated the acceptance rate of secondary findings (SFs) and factors associated with their acceptance in a cohort of patients with rare genetic disorders in a Spanish hospital. The results showed that the majority of families wanted to be informed of SFs, and the acceptance of SFs was associated with prenatal setting, consanguinity, gender, and being a minor. Disclosure of SFs increased the percentage of positive family histories and resulted in clinically meaningful changes in the medical management of individuals.

EUROPEAN JOURNAL OF HUMAN GENETICS (2023)

添加到收藏夹

Article Genetics & Heredity

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, Francois Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P. A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Muller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Summary: PRMT7-related syndrome is a neurodevelopmental disorder characterized by short stature, intellectual developmental disability, hypotonia, brachydactyly, and distinct facial morphology. This study provides a comprehensive description of the clinical characteristics of this syndrome, contributing to a better understanding of the disease.

GENETICS IN MEDICINE (2023)

添加到收藏夹

Article Engineering, Biomedical

Fluid-Structure Interaction Modeling of the Aortic Hemodynamics in Adult Zebrafish: A Pilot Study Based on Synchrotron X-Ray Tomography

Matthias Van Impe, Lisa Caboor, Violette Deleeuw, Margie Olbinado, Julie De Backer, Patrick Sips, Patrick Segers

Summary: This study successfully provides a biomechanical reference for the circulation in adult zebrafish by establishing 3D models of the cardiovascular system. By providing reference values for biomechanical stimuli in wild-type animals and a pipeline for image-based animal-specific computational biomechanical models, this study contributes to a more comprehensive understanding of the role of altered biomechanics and hemodynamics in heritable cardiovascular pathologies.

IEEE TRANSACTIONS ON BIOMEDICAL ENGINEERING (2023)

添加到收藏夹

Article Genetics & Heredity

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

Anna Abuli, Mar Costa-Roger, Marta Codina-Sola, Irene Valenzuela, Jordi Leno-Colorado, Eulalia Rovira-Moreno, Anna Cueto-Gonzalez, Paula Fernandez-Alvarez, Elena Garcia-Arumi, Ivon Cusco, Eduardo F. Tizzano

Summary: Background: Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility of extensive preconception carrier screening (PCS) in consanguineous couples who may be at risk of rare genetic disorders. Methods: We retrospectively analysed ES data from 65 probands affected with rare genetic disorders born from consanguineous couples, exploring diagnostic yield and carrier status for recessive disorders.

JOURNAL OF MEDICAL GENETICS (2023)

添加到收藏夹

Article Genetics & Heredity

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto Garcia-Minaur, Maria Angeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-Del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begona De Azua, Jesus Eiris, Juan Jose Garcia-Penas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernandez-Jaen, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-Gonzalez, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera

Summary: This study investigated 67 patients with KBG syndrome and proposed new clinical diagnostic criteria based on the findings.

JOURNAL OF MEDICAL GENETICS (2023)

添加到收藏夹

Article Genetics & Heredity

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

Estela Carrasco, Adria Lopez-Fernandez, Marta Codina-Sola, Irene Valenzuela, Am Cueto-Gonzalez, Guillermo Villacampa, Victor Navarro, Sara Torres-Esquius, Dolors Palau, Mara Cruellas, Maite Torres, Belen Perez-Duenas, Anna Abuli, Orland Diez, Constantino Sabado-Alvarez, Elena Garcia-Arumi, Eduardo F. Tizzano, Lucas Moreno, Judith Balmana

Summary: This study investigated the frequency of secondary and incidental findings in cancer susceptibility genes (CSG), their clinical actionability, and the psychological impact on individuals. The results showed that 2.1% of individuals had secondary and incidental findings related to CSG, which played a positive role in cancer prevention in families.

JOURNAL OF MEDICAL GENETICS (2023)

添加到收藏夹

Article Cell & Tissue Engineering

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Jeffrey Aalders, Laurens Leger, Anthony Demolder, Laura Muino Mosquera, Paul Coucke, Bjorn Menten, Julie De Backer, Jolanda van Hengel

Summary: Marfan syndrome is caused by pathogenic variants in the FBN1 gene, resulting in impaired fibrillin-1 protein and affecting multiple organ systems. We generated iPSCs with a heterozygous FBN1 variant from a Marfan syndrome patient, as well as an isogenic control with the variant repaired using CRISPR-Cas9. This isogenic pair provides a valuable resource for in vitro disease modeling.

STEM CELL RESEARCH (2023)

添加到收藏夹

Editorial Material Cardiac & Cardiovascular Systems

Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!

Julie De Backer, Laura Muino Mosquera

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2023)

添加到收藏夹

Article Biochemistry & Molecular Biology

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananilia Silva, Haley Mcconkey, Raissa Relator, Michael A. Levy, Irene Valenzuela, Laura Trujillano, Amaia Lasa-Aranzasti, Berta Campos, Neus Castells, Eline A. Verberne, Saskia Maas, Marielle Alders, Marcel M. A. M. Mannens, Mieke M. van Haelst, Bekim Sadikovic, Peter Henneman

Summary: JARID2 haploinsufficiency is associated with a distinct neurodevelopmental syndrome characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. The study identified JARID2 as the driver gene for aberrant DNA methylation observed in 6p22-p24 microdeletions.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

添加到收藏夹

Article Medicine, General & Internal

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

Atilano Carcavilla, Ana Cambra, Jose L. Santome, Veronica Seidel, Jaime Cruz, Milagros Alonso, Jesus Pozo, Irene Valenzuela, Encarna Guillen-Navarro, Fernando Santos-Simarro, Isabel Gonzalez-Casado, Amparo Rodriguez, Constancio Medrano, Juan Pedro Lopez-Siguero, Begona Ezquieta

Summary: This study aimed to understand the molecular basis of patients with RASopathies, with a focus on patients with pathogenic variants in genes other than PTPN11, and its potential impact on rGH treatment indication. The study found that the correct nosological classification of patients with RASopathies is critical for determining the use of rhGH treatment and emphasized the importance of genetic testing in guiding the diagnostic orientation in these patients.

JOURNAL OF CLINICAL MEDICINE (2023)

添加到收藏夹

Article Medicine, General & Internal

Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Diaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simo

Summary: This report describes a case of short stature in an adult patient with homozygous variants in the ADAMTS17 and GHS-R genes. The patient exhibited severe short stature, small hands and feet, and eye disturbances. Genetic testing revealed compound homozygosity for ADAMTS17, responsible for Weill-Marchesani-like syndrome, as well as homozygous variants in the GHS-R gene. Dynamic stimulation tests showed a normal GH response to insulin tolerance test but a flattened response to macimorelin stimulus. The findings provide insights into the clinical spectrum, associated co-morbidities, implications in dynamic tests, genetic counseling, and treatment options for both the index case and her relatives.

DIAGNOSTICS (2023)

添加到收藏夹

Article Urology & Nephrology

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

Lina Werfel, Helge Martens, Imke Hennies, Ann Christin Gjerstad, Kerstin Froede, Gheona Altarescu, Sushmita Banerjee, Irene Valenzuela Palafoll, Robert Geffers, Martin Kirschstein, Anne Christians, Anna Bjerre, Dieter Haffner, Ruthild G. Weber

Summary: WES provides significant advantages for the diagnosis and management of patients with CAKUT diagnosed before 3 years of age, especially in patients who require KRT or have extrarenal anomalies.

KIDNEY INTERNATIONAL REPORTS (2023)

添加到收藏夹

Article Medicine, Research & Experimental

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P. A. Stegmann, Estrella Lopez-Martin, Eva Bermejo-Sanchez, Beatriz Martinez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Graefe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernandez-alvarez, Shiyi Xiong, Robert Smigiel, Vanesa Lopez-Gonzalez, Lluis Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B. R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jaksic, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D'Angelo, Vincenzo A. Gennarino

Summary: By studying individuals with de novo missense variants in CERT1, it was found that CERT autoregulation plays a central role in the control of sphingolipid biosynthetic flux. Inhibiting CERT pharmacologically can correct the morphological and motor abnormalities in CerTra syndrome, suggesting a potential therapeutic approach for patients.

JOURNAL OF CLINICAL INVESTIGATION (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Anatomical mapping of the membranous septum in tricuspid and bicuspid aortic valves by cardiac computed tomography

Laurence Campens, Xi Wang, Nicholas J. Montarello, Jingjing He, Klaus Fuglsang Kofoed, Mao Chen, Lars Sondergaard, Ole De Backer

Summary: A study using cardiac computed tomography found that patients with bicuspid aortic valves (BAVs) have a higher incidence of conduction disturbances and permanent pacemaker implantation (PPI) after transcatheter aortic valve implantation (TAVI) compared to those with tricuspid aortic valves (TAVs). The study revealed that BAVs have a significantly shorter sub-annular length of the membranous septum (MS) compared to TAVs, which could explain the higher PPI rate. The location of the MS in BAVs, closer to the right coronary cusp where TAVI is commonly performed, may also contribute to the increased PPI rate.

INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

The coronavirus disease pandemic among adult congenital heart disease patients and the lessons learnt - results of a prospective multicenter european registry

Francisco Javier Ruperti-Repilado, Helmut Baumgartner, Berto Bouma, Judith Bouchardy, Werner Budts, Laurence Campens, Massimo Chessa, Maria Jesus del Cerro Marin, Harald Gabriel, Pastora Gallego, Elvira Ana Gonzalez, Annette Schophuus Jensen, Magalie Ladouceur, Christopher Lockhart, Berta Miranda-Barrio, Marielle Morissens, Eduardo Moreno Escobar, Agnes Pasquet, Joaquin Rueda Soriano, Annemien Elise van den Bosch, Heleen Berdina van der Zwaan, Daniel Tobler, Matthias Greutmann, Markus Schwerzmann

Summary: This study aimed to assess changes in risk stratification and outcomes of adult congenital heart disease (ACHD) patients suffering from COVID-19. The study found that general risk factors were equally important for ACHD patients, in addition to cyanotic heart disease. Risk perception among ACHD experts decreased during the pandemic.

INTERNATIONAL JOURNAL OF CARDIOLOGY CONGENITAL HEART DISEASE (2023)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.