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Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.
Am J Surg Pathol
August 2024
Department of Pathology & Laboratory Medicine, Memorial Sloan Kettering Cancer Center.
Embryonal rhabdomyosarcoma (ERMS) is the most common subtype of RMS, occurring in soft tissue and visceral sites of young children, and is associated with favorable outcomes. A subset occurs in mucosal-lined luminal structures, displaying a unique grape-like growth termed as "botryoid-type." To further delineate the differences between conventional (cERMS) and botryoid-type (bERMS) RMS, we performed a comparative histologic review and comprehensive molecular profiling of 48 cases (25 bERMS and 23 cERMS).
View Article and Find Full Text PDFManagement of a bulbous blunderbuss maxillary central incisor with one root and three canals in a patient with cleft lip and palate.
J Conserv Dent Endod
June 2024
Department of Conservative Dentistry and Endodontics, Government Dental College and Hospital, Vijayawada, Andhra Pradesh, India.
Unique anatomical deviations in canal structure are rare in anterior teeth, especially central incisors, and thus risk being overlooked. For successful intervention, a meticulous diagnostic procedure and treatment plan, significantly aided by cone-beam computed tomography (CBCT), are crucial. The case at hand explores the management of a maxillary left central incisor in a cleft palate patient, characterized by multiple developmental lobes, a bulbous crown, and an atypical root anatomy.
View Article and Find Full Text PDFFloating-Harbor Syndrome: A Systematic Literature Review and Case Report.
J Clin Med
June 2024
Department of Dentofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Medical University of Wroclaw, 50-425 Wroclaw, Poland.
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms.
View Article and Find Full Text PDFHow many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Eur J Med Genet
June 2024
Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK. Electronic address:
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.
View Article and Find Full Text PDFCementoblastoma Mimicking Pathology of Endodontic Origin: A Case Report.
Compend Contin Educ Dent
April 2024
Professor of Surgery, Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.
Interdisciplinary care in the management of complex pathology is critical to ensure patients receive predictable, evidence-based treatment. The authors report the unique case of a healthy 38-year-old female patient who presented to a private endodontics practice with a radiopaque lesion associated with the root of tooth No. 20.
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