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Hereditary Angioedema.
Cureus
July 2023
Emergency Medicine, Hospital Corporation of America (HCA) Florida Ocala Hospital, Ocala, USA.
The authors present the case of a 22-year-old female who reported having a persistent sore throat. The patient had a history of recurring episodes of hereditary angioedema and arrived at the emergency department with her C1-esterase inhibitor. The epidemiology, clinical presentation, and treatment strategies are presented.
View Article and Find Full Text PDF[Identification of compound heterozygous mutations of F11 gene in a pedigree affected with heriditary coagulation factor XI deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2019
Center of Laboratory Medicine, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, China. Email:
Objective: To identify potential mutations of F11 gene in a pedigree affected with hereditary coagulation factor XI (FXI) deficiency and explore its molecular pathogenesis.
Methods: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), coagulation factor VIII activity (FVIIIC), coagulation factor IX activity (FIXC), coagulation factor XI activity (FXIC), coagulation factor XII activity (FXIIC) and lupus anticoagulation (LA) of the proband and eight family members were determined. FXI antigen (FXIAg) was determined by enzyme-linked immunosorbent assay (ELISA).
Multiple heriditary exostoses in a family for three generation of Indian origin with review of literature.
J Clin Diagn Res
October 2014
Scientific Adviser, Genome Lab, Genome Lab, Sri Devaraj Urs Medical College, Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka, India .
Multiple hereditary exostoses (MHE) are an autosomal dominant disorder, consisting of multiple cartilage capped bone tumour arising from the metaphysis of long tubular bones. Mutations are seen in Exostosin-1 and Exostosin-2 genes. We present a family of MHE for three generations.
View Article and Find Full Text PDFResearch Objective: To study the psycho-emotional status and prevalence of the coronary heart disease (CHD) and the idiopathic hypertensia (IH) at patients with the peptic ulcer of a stomach (PUS) and at patients with a peptic ulcer of a duodenum is (YaB DPK).
Materials And Methods: Examination of 226 patients with an exacerbation of a peptic ulcer was conducted. Patients were distributed in 3 groups of observation depending on localization of ulcerative process.
Idiopathic Gingival Fibromatosis.
Int J Clin Pediatr Dent
September 2016
Senior Lecturer, Department of Pedodontics and Preventive Dentistry, USPM Dental College and Research Center Nagpur, Maharashtra, India.
Idiopathic gingival fibromatosis is a rare heriditary condition characterized by slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva caused by increase in submucosal connective tissue elements. This case report gives an overview of gingival fibromatosis in a 11-year-old female patient who presented with generalized gingival enlargement. Based on the history and clinical examination, the diagnosis was made and the enlarged tissue was surgically removed.
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