Cor triatratum is a rare congenital malformation. Problems in diagnosis and surgery arise due to associated anomalies such as atrial septal defects and anomalous pulmonary venous drainage. A 21-year-old man proved to have a rare variant of cor triatiatum in which both the upper and lower compartments of the left atrium communicated with the right atrium through two separate atrial septal defects. In addition, he had anomalous drainage of the right superior pulmonary vein into the superior vena cava. Intracardiac repair was undertaken successfully.
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Am J Med Genet A
January 2025
Department of Endocrinology, The Fifth People's Hospital of Zhuhai, Zhuhai, China.
Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder caused by biallelic variants in the transient receptor potential melastatin 6 (TRPM6) gene, typically presenting in infancy. Currently, there is a lack of reports in the literature on adult-onset cases. This case report describes a 51-year-old male with adult-onset HSH, presenting with limb weakness, muscle spasms, and electrolyte imbalances, including severe hypomagnesemia (0.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Endocrinology and Metabolic Diseases, Shandong First University Affiliated Central Hospital, Jinan, China.
Background: KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.
Methods And Results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis.
Urol Case Rep
January 2025
Department of Pathology, Vardhman Mahavir Medical College And Safdarjung Hospital, New Delhi, 110029, India.
Ancient schwannoma is a rare benign variant of schwannoma with marked degenerative changes, often mimicking malignancies, particularly when retroperitoneal and pararenal. A 34-year-old woman presented with a rapidly growing 15 cm retroperitoneal pararenal mass. Imaging suggested an aggressive malignancy.
View Article and Find Full Text PDFTransl Lung Cancer Res
December 2024
Department of Physics and Center for Complexity and Biosystems, Università degli Studi di Milano and INFN, Milano, Italy.
Background: Non-small cell lung cancers (NSCLCs) with fusions are effectively treated with tyrosine kinase inhibitors (TKIs). The widespread use of next-generation sequencing (NGS) assays to study the molecular profile of NSCLCs, can identify rare fusion partners of . Therapy decisions are made without considering which fusion partner is present and its potential oncogenic properties.
View Article and Find Full Text PDFThe U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.
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