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Case report: A novel case of parental mosaicism in gene causes inherited Cornelia de Lange syndrome.
Front Genet
September 2022
Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow this inheritance pattern. However, the high prevalence of somatic mosaicism recently reported in this syndrome (∼13%), together with the disparity observed in tissue distribution of the causal variant, suggests that its prevalence in this disorder could be underestimated.
View Article and Find Full Text PDFMultimodality Imaging and Genetics of Primary Mucosal Melanomas and Response to Treatment.
Radiographics
November 2021
From the Departments of Abdominal Imaging (M.S., S.J., M.P., T.L.S., P.B., S.C.F.), Pathology (C.T.C.), Dermatology (C.T.C.), and Melanoma Oncology (J.M.), The University of Texas MD Anderson Cancer Center, 1400 Pressler St, Houston, TX 77030-4008; and Department of Radiology, The University of Florida College of Medicine, Jacksonville, Fla (S.E.).
Mucosal melanomas (MMs) are rare and aggressive tumors that arise from melanocytes in the mucosal tissues that line the respiratory, gastrointestinal, and urogenital tracts. Most MMs occur during the 6th and 7th decades of life. MMs may be asymptomatic but may also cause bleeding, pain, and itching, depending on the site of origin.
View Article and Find Full Text PDFRecent advances in pericarditis.
Eur J Intern Med
January 2022
University of Milano, Department of biomedical and clinical sciences "Luigi Sacco", Fatebenefratelli Hospital, Piazzale Principessa Clotilde 3, 20121, Milano, Italy. Electronic address:
Pericardial diseases are an heterogeneous group of entities, ranging from acute pericarditis to asymptomatic pericardial effusions. New advances in understanding the processes underlying them have been made. In 2020 a prospective study defined the reference intervals of the component of normal pericardial fluid, that was found to be rich in nucleated cells, proteins, albumin and LDH, at levels compatible with the inflammatory exudates of other biological fluids such as pleural or peritoneal fluid; Light's criteria should not be used to evaluate it.
View Article and Find Full Text PDFPulsatile varicose veins simulating femoral artery aneurysm: case report.
J Vasc Bras
June 2021
Universidade Federal do Espírito Santo - UFES, Hospital Universitário Cassiano Antonio Moraes - HUCAM, Vitória, ES, Brasil.
Severe tricuspid regurgitation is mentioned as a factor associated with development or recurrence of varicose veins in the lower limbs and may present with retrograde pulsatile flow. Differential etiological diagnosis of this ultrasound finding must include investigation of arteriovenous fistulas, since the treatment methods are different. Given the complexity of the general condition of patients with tricuspid regurgitation, treatment for pulsatile varices should be chosen on a case-by-case basis after multidisciplinary evaluation.
View Article and Find Full Text PDFSacrospinous hysteropexy with a low weight transvaginal polypropylene mesh for treatment of complete uterovaginal eversion.
Int Braz J Urol
September 2019
Divisão de Urologia Feminina, Departamento de Cirurgia, Faculdade de Ciências Médicas, Universidaded e Campinas, UNICAMP, Brasil.
Introduction: Pelvic Organ Prolapse (POP) is a common condition in elderly resulting from the weakening of the organ suspension elements of multifactorial origin. It compromises significantly the quality of life and can affect more than 50% of multiparous women. Stage IV prolapse or complete uterovaginal eversion corresponds to 10% of the cases and the only form of curative treatment is the surgical correction.
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