Good syndrome (GS), a rare acquired immunodeficiency disorder characterized by thymoma and hypogammaglobulinemia, predisposes individuals to recurrent infections. This study reports a case of a 37-year-old male GS with multiple pulmonary infections and reviews relevant literature. The patient, with a history of thymoma resection, experienced multiple hospitalizations due to lung infections and neutropenia. The alveolar lavage fluid was detected by macro-genomic sequencing (NGS) to detect multiple pathogens, and targeted anti-infective and immunity-enhancing treatments led to improved symptoms and normal neutrophil counts. A literature review of 98 case reports from 2000 to 2023 was conducted, summarizing the associated diseases and pathogens in GS patients. Regular immunoglobulin monitoring in thymoma patients is essential for early GS diagnosis. When empirical antimicrobial therapy fails, mNGS for pathogen detection and targeted therapy are crucial, and regular IVIG injections can reduce infection rates in GS patients.
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http://dx.doi.org/10.1007/s12026-024-09528-y | DOI Listing |
Elife
December 2024
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, United States.
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.
Methods: We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping.
Neurol Neurochir Pol
January 2024
Department of Gynecology, Obstetrics and Oncological Gynecology, Faculty of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
Acta Obstet Gynecol Scand
December 2024
Department of Obstetrics, Gynecology and Reproductive Medicine, Foch Hospital, Suresnes, France.
Introduction: Since 2017, women with absolute uterine infertility due to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome have been eligible to participate in a uterine transplantation clinical trial conducted by Foch Hospital in France. The aim of this study is to assess the psychological state of potential candidates, including recipients, their partners, and their living-related donors.
Material And Methods: Sixteen potential uterus transplant candidates, including recipients, partners, and living-related donors, participated in the study.
BMC Musculoskelet Disord
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Department of Orthopaedics, School of Medicine, Zhongda Hospital, Southeast University, No. 87 Ding Jia Qiao, Nanjing, 210009, Jiangsu, China.
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View Article and Find Full Text PDFInt J Lang Commun Disord
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Department of Clinical Speech and Language Studies, Trinity College Dublin, Dublin, Ireland.
Background: Individuals with dementia have communication limitations resulting from cognitive impairments that define the syndrome. Whereas there are numerous cognitive assessments for individuals with dementia, there are far fewer communication assessments. The Profiling Communication Ability in Dementia (P-CAD) was developed to address this gap.
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