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Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFHETEROKARYOTIC MONOZYGOTIC TURNER TWINS: AN INTERESTING PRESENTATION.
Acta Endocrinol (Buchar)
January 2025
Bursa Uludag University, School of Medicine, 1Department of Pediatric Endocrinology.
Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac.
View Article and Find Full Text PDFUnusual Cause of Ventricular Arrhythmia.
JACC Case Rep
January 2025
Department of Cardiovascular Magnetic Resonance, Hôpital Privé Jacques Cartier, Institut Cardiovasculaire Paris Sud, Massy, France.
Although relatively rare, cardiac metastases represent a significant clinical challenge because of their impact on cardiac function and overall patient prognosis. This case presents a rare and atypical presentation of a patient with ventricular arrhythmia revealing a metastatic cancer in the heart. A 59-year-old man with lung cancer was admitted for chest tightness and episodes of syncope.
View Article and Find Full Text PDFSensory processing associated with subcategories of restricted and repetitive behaviors in Japanese children and adolescents with autism spectrum disorder.
Front Child Adolesc Psychiatry
August 2024
Department of Occupational Therapy Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Background: Restricted and repetitive behavior (RRB) is a core symptom of autism spectrum disorder (ASD). The structure of RRB subcategories and their relationship with atypical sensory processing in Japan are not well understood. This study examined subcategories of the RRB in Japanese children with ASD and explored their relationship with sensory processing.
View Article and Find Full Text PDFPseudovascular squamous cell carcinoma of the buccal mucosa-a rare case report and review of literature.
Ecancermedicalscience
November 2024
Department of Oncopathology, Dr. B. Borooah Cancer Institute, Guwahati 781016, Assam, India.
Squamous cell carcinoma is the most common malignancy of the head and neck. Pseudovascular squamous cell carcinoma (PSCC) is a rare variant that occurs commonly in the skin of the head and neck. However, oral cavity involvement is extremely rare, with only a few cases reported to date.
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