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Ectopic dopamine agonist-resistant macroprolactinoma to the clivus masquerading as a chordoma - A case report.
Endocr Regul
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1Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
Pituitary neuroendocrine tumors (PitNETS) are common intracranial tumors, but extrasellar or ectopic PitNETS are very rare and supposed to originate from some pituitary remnants. They are mostly found in sphenoidal sinus. But particularly, ectopic clival PitNETS are highly aggressive and can cause bone invasion and can be misdiagnosed as other lesions of the skull base such as chordomas.
View Article and Find Full Text PDFA Rare Case of Disseminated Entomophthoromycosis in an Adolescent Boy Presenting as Mediastinal Mass.
Pediatr Infect Dis J
March 2025
Department of Pediatrics, AIIMS Jodhpur, Rajasthan, India.
Surgical management for caseous calcification of mitral annulus associated with coronary artery disease.
Interdiscip Cardiovasc Thorac Surg
March 2025
Department of Cardiovascular Surgery, Anjo Kosei Hospital, Anjo, Aichi, 446-8602, Japan.
Mitral annular calcification (MAC) is a common finding, especially among the elderly or patients undergoing hemodialysis. Caseous calcification of the mitral annulus (CCMA) is a rare MAC variant with liquefied material at the calcified annulus. Surgical management of CCMA often involves wide excision and debridement, increasing the risk of perioperative stroke.
View Article and Find Full Text PDFSwyer Syndrome: A diagnostic challenge.
JBRA Assist Reprod
March 2025
Department of Gynecology and Obstetrics, University Hospital Farhat Hached, Faculty of Medicine, Ibn Al Jazzar, University of Sousse, Sousse, Tunisia.
Swyer syndrome, represents a rare manifestation of primary amenorrhea arising from gonadal dysgenesis. This syndrome is distinguished by the manifestation of a female phenotype despite a 46, XY karyotype. We present the case of a patient aged 32 the second of three sisters; consulted for the first time with a main complaint of primary unexplored amenorrhea responsible for infertility of 1 year with a female phenotype and a male karyotype: 46XY.
View Article and Find Full Text PDFA nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.
Psychiatr Genet
February 2025
Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Heterozygous variants in the Early B cell factor 3 (EBF3) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual with neurodevelopmental delay and behavioural problems.
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