Misdiagnosis of a patient with congenital dysfibrinogenemia: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24624
Abstract: We reported a patient with congenital dysfibrinogenemia who was misdiagnosed and reviewed relevant literature, in order to discuss the methods to reduce misdiagnosis. read more here.
Keywords: literature; patient congenital; congenital dysfibrinogenemia; misdiagnosis ... See more keywords
Intestinal malrotation in an adult patient with other congenital malformations: A case report
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2018.09.010
Abstract: Highlights • Intestinal malrotation refers to aberrations in embryological midgut development.• Patients who persist beyond infancy tend to report chronic nonspecific symptoms.• Midgut volvulus is the acute presentation of intestinal malrotation.• Diagnosis is made by… read more here.
Keywords: malrotation; adult patient; malrotation adult; patient congenital ... See more keywords
Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.
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DOI: 10.1016/j.scr.2018.01.004
Abstract: The human iPSC cell line, GLC-FiPS4F1 (ESi047-A), derived from dermal fibroblast from the patient with congenital glaucoma caused by the mutation of the gene CYP1B1, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC… read more here.
Keywords: caused mutation; line; congenital glaucoma; patient congenital ... See more keywords
Elbow luxation in a patient with congenital dislocation of the radial head
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DOI: 10.1136/bcr-2022-252301
Abstract: Elbow dislocations are commonly seen and can occur after trauma or be congenital. The literature on congenital dislocations is scarce. No cases of an additional luxation of a pre-existing congenital radial head dislocation with a… read more here.
Keywords: radial head; head; patient congenital; dislocation radial ... See more keywords
Tricuspid Valve Endocarditis in a Patient with Congenital Heart Disease
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pharmacy and Pharmacology"
DOI: 10.17265/2328-2150/2018.05.009
Abstract: The present study reports a case of a young patient who presented for 3 months dyspnea, edema of lower limbs, fever and important weight loss. She evolved with acute fever, hematemesis and focal seizures. An… read more here.
Keywords: valve endocarditis; patient congenital; congenital heart; valve ... See more keywords