The casee presented here may be the first fully identified and verified cas of translocation 4p-- syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22,+t(4q 22q). Thirty-nine other cases of the 4p--syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p-- (Wolf) syndrome and 5p-- (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible.
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http://dx.doi.org/10.1001/archpedi.1975.02120400066017 | DOI Listing |
J Cyst Fibros
January 2025
Pulmonology Department, Regional University Hospital of Malaga, Department of Medicine and Dermatology, University of Malaga, Biomedical Research Institute of Malaga (IBIMA) - Bionand Platform, Malaga, Spain. Electronic address:
Background: Cystic fibrosis (CF) is caused by variants in a gene that encodes a protein essential for water and ion transport in the epithelial cells of exocrine organs. Given the possible relationship of this protein and conjunctival and corneal epithelium, the aim of this study was to evaluate ophthalmologic alterations in people with CF.
Methods: Forty-five people with CF underwent pulmonary evaluation including inflammatory score (IS).
J Family Med Prim Care
September 2024
Department of Biochemistry, Prasad Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Background: Cardiometabolic disorders, notably primary hypertension and type 2 diabetes, present substantial global health challenges. The intricate interplay between metabolic and cardiovascular pathways has prompted extensive research into molecular mechanisms linking these conditions. The adipokine Retinol Binding Protein 4 (RBP4), initially recognized for retinol transport, has emerged as a potential biomarker in the network of metabolic and cardiovascular dysfunction.
View Article and Find Full Text PDFInt J Mol Sci
September 2024
Hanbang Cardio-Renal Syndrome Research Center, Wonkwang University, 460, Iksan-daero, Iksan 54538, Republic of Korea.
Heart failure, a major public health issue, often stems from prolonged stress or damage to the heart muscle, leading to cardiac hypertrophy. This can progress to heart failure and other cardiovascular problems. Doxorubicin (DOX), a common chemotherapy drug, and isoproterenol (ISO), a β-adrenergic agonist, both induce cardiac hypertrophy through different mechanisms.
View Article and Find Full Text PDFGene
January 2025
Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province 511400, China. Electronic address:
Sci Rep
October 2024
Department of Cardiology, The Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, Guangdong, China.
Although sodium-glucose transport protein-2 (SGLT2) inhibitors (SGLT2i) do not increase the risk of acute kidney injury (AKI) in general, they may pose a risk in patients undergoing angiography. This prospective cohort study aimed to evaluate the safety and efficacy of SGLT2i for post-contrast AKI (PC-AKI) in patients with type 2 diabetes mellitus (T2DM). Following screening, 306 patients with T2DM selected to undergo coronary arterial angiography with or without percutaneous intervention were enrolled.
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