A congenitally malformed infant with a partial deletion of the long arm of chromosome 4 identified by Giemsa banding studies is described. The relationship of the anomalies to the chromosome abnormality is discussed.
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http://dx.doi.org/10.1136/jmg.10.1.83 | DOI Listing |
Front Microbiol
January 2025
Service of Infectious Diseases, Geneva University Hospitals, Geneva, Switzerland.
Antibiotic-resistant Gram-negative bacteria are an increasing threat to human health. Strategies to restore antibiotic efficacy include targeting multidrug efflux pumps by competitive efflux pump inhibitors. These could be derived from natural substrates of these efflux systems.
View Article and Find Full Text PDFJ Bacteriol
January 2025
Department of Population Medicine and Diagnostic Sciences, Cornell University, Ithaca, New York, USA.
and are two phylogenetically related bacterial pathogens that exhibit extreme intrinsic resistance when they enter into a dormancy-like state. This enables both pathogens to survive extended periods in growth-limited environments. Survival is dependent upon their ability to undergo developmental transitions into two phenotypically distinct variants, one specialized for intracellular replication and another for prolonged survival in the environment and host.
View Article and Find Full Text PDFCureus
December 2024
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Haemoglobin (Hb) AE Bart's disease is a rare form of thalassemia that results from the co-inheritance of Hb E and alpha thalassemia, typically with Hb H disease. The clinical severity can vary depending on the underlying genetic mutations, particularly in the presence of Hb Constant Spring (Hb CS), which is a highly unstable form of alpha thalassemia. Understanding the genetic basis and haematological profiles of Hb AE Bart's disease is crucial for proper diagnosis and management.
View Article and Find Full Text PDFBiol Psychiatry Glob Open Sci
March 2025
Initiative on Stress, Trauma, and Resilience, Department of Psychiatry and Human Behavior, Warren Alpert Medical School, Brown University, Providence, Rhode Island.
Background: Mounting evidence suggests that mitochondria respond to psychosocial stress. Recent studies suggest mitochondrial DNA (mtDNA) deletions may be increased in some psychiatric disorders, but no studies have examined early-life stress (ELS) and mtDNA deletions. In this study, we assessed mtDNA deletions in peripheral blood mononuclear cells of medically healthy young adults with and without ELS.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
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