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Ventricular tachycardia unveiling severe undiagnosed hypothyroidism.
Cardiovasc Endocrinol Metab
March 2025
Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Kalaburagi, Karnataka, India.
Hypothyroidism is typically associated with bradyarrhythmias, but can rarely precipitate life-threatening ventricular arrhythmias. We present a case of severe hypothyroidism manifesting as polymorphic ventricular tachycardia (VT). A previously healthy woman in her early 50s presented with an acute onset of breathlessness and on examination had hypotension and tachycardia.
View Article and Find Full Text PDFPhenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.
Am J Med Genet A
January 2025
Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.
We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.
View Article and Find Full Text PDFSerum levels of glycosylated hemoglobin, insulin, total protein and their association with somatoform disorder in environmentally exposed populations in Kazakhstan.
Environ Toxicol Pharmacol
January 2025
Nazarbayev University School of Medicine, Astana, Kazakhstan.
Biochemical blood parameters may serve as biomarkers of environmental pollution, with somatoform disorder (SD) being of interest. This study examined serum glycosylated hemoglobin (HbA1C), insulin, total protein, and SD prevalence in populations from polluted areas in Kazakhstan. It assessed the predictive value of these parameters for SD, along with other risk factors.
View Article and Find Full Text PDFDenovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families.
PLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFUndiagnosed partial ornithine transcarbamylase deficiency presenting as recurrent hyperammonaemic encephalopathy after capecitabine administration.
BMJ Case Rep
January 2025
Internal Medicine, Carolinas Medical Center, Charlotte, North Carolina, USA.
Capecitabine is a widely used drug for cancer treatment. Capecitabine is a derivative of 5-fluorouracil (5-FU). A known complication of 5-FU is hyperammonaemia which can cause encephalopathy.
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