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[DiGeorge syndrome with 22q11.2 deletion in a patient of Rarámuri ethnicity].
Rev Alerg Mex
December 2024
Departamento de Inmunología, Hospital Infantil de Especialidades de Chihuahua; Facultad de Medicina y Ciencias Biomédicas, Universidad Autónoma de Chihuahua.
Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.
View Article and Find Full Text PDFPathophysiology of oral lesions subsequent to SARS-CoV-2 vaccination: A systematic review.
J Oral Maxillofac Pathol
October 2024
Kasturba Medical College, Manipal, Karnataka, India.
Amidst worldwide reports of adverse oral lesions subsequent to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination, the current systematic review planned to determine the prevalence of adverse oral events in adult individuals (≥18 years) after SARS-CoV-2 vaccination, emphasizing upon the type and dose of vaccine, time of onset, and underlying pathophysiology. The registered protocol (PROSPERO CRD42023421307), conforming with PRISMA guidelines, included an all-inclusive literature search through online databases, consisting of Scopus, PubMed/MEDLINE, Web of Science, Lilacs, Livivo, and PROSPERO, completed on 2 May 2023, followed by assessment of risk of bias by Joana Briggs Institute Evaluation Checklist. Due to the paucity of literature, case reports and case series were included.
View Article and Find Full Text PDF, gen et sp. nov., a small early Permian parareptile with conical teeth from Richards Spur, Oklahoma.
PeerJ
November 2024
Australian Centre for Neutron Scanning, Australian Nuclear Science and Technology Organization, Sydney, New South Wales, Australia.
A small, pristinely preserved specimen recently collected from the Dolese Brothers limestone quarry near Richards Spur, Oklahoma provides evidence for the presence of a new early Permian parareptile at this locality. The specimen includes an articulated, nearly complete skull roof, and with the right premaxilla, right quadratojugal, most of the right palate, as well as the right epipterygoid and the sphenethmoid preserved inside. Although similar in many respects to the other contemporary parareptiles , and , it can be distinguished from other acleistorhinids by the presence of a number of autapomorphies related to its dentition.
View Article and Find Full Text PDFCongenital teratoma of the oral cavity - the largest personal series of cases.
Oral Maxillofac Surg
November 2024
Hospital de Clínicas, Federal University of Paraná and Assistance Center for Cleft Lip and Palate, Curitiba, Brazil.
Purpose: The objective of this study is to present the largest personal series of oral teratomas already published in English literature and discuss the diagnosis, neonatal management, and surgical treatment of this disorder.
Method: The study included patients treated by the senior author (RSF) between 2004 and 2023. Data were collected regarding prenatal evaluation, perinatal approach, surgical management, evolution, and treatment of secondary deformities.
A Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.
Cureus
September 2024
Pediatrics, Saveetha Medical College and Hospitals, Saveetha Institute of Technical and Medical Sciences, Saveetha University, Chennai, IND.
Kabuki syndrome is an autosomal dominant disorder characterized by distinct facial features, including long palpebral fissures, a short columella with a flat, broad nasal tip, ptosis, and cleft lip/palate. The syndrome was named for the resemblance of the facial features to the make-up worn by traditional Kabuki performers. We report the case of a 10-month-old female infant admitted for cleft palate repair.
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