C1 Inhibitor Deficiency and Angioedema of the Small Intestine Masquerading as Crohn’s Disease
A case of C1 inhibitor deficiency presenting as localized edema of the small intestine is described. A 16-year-old, previously healthy woman presented with recurrent attacks of abdominal pain and vomiting following minor abdominal trauma.
Kelly W Burak, Gary R May
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Clinical profile of patients with C1-inhibitor deficiency from Eastern India
C1-inhibtor deficiency or hereditary angioedema is a rare, autosomal dominant disorder that is characterized by severe episodic attacks of angioedema that can affect any part of the body.
Sujoy Khan
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Targeting BRCA1-BER deficient breast cancer by ATM or DNA-PKcs blockade either alone or in combination with cisplatin for personalized therapy [PDF]
BRCA1, a key factor in homologous recombination repair may also regulate base excision repair (BER). Targeting BRCA1-BER deficient cells by blockade of ATM and DNA-PKcs could be a promising strategy in breast cancer.
Abdel-Fatah, TMA +16 more
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Angioedema related to a deficiency in the C1-inhibitor protein is characterized by its lack of response to therapies including antihistamine, steroids, and epinephrine. In the case of laryngeal edema, mortality rate is approximately 30 percent. The first
Bassel Hallak +4 more
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In this letter to the editor, we present results of claims data analysis. This claims data analysis supports a hypothesis that in patients with hereditary angioedema due to C1-esterase inhibitor (C1-INH) deficiency, the occurrence and/or symptomatology ...
Henriette Farkas +5 more
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Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes. [PDF]
This review focuses on the role of the Cytochrome p450 subfamily 26 (CYP26) retinoic acid (RA) degrading enzymes during development and regeneration. Cyp26 enzymes, along with retinoic acid synthesising enzymes, are absolutely required for RA homeostasis
Roberts, C
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Pediatric hereditary angioedema: an update [version 1; referees: 2 approved]
Hereditary angioedema (HAE) with C1-inhibitor (C1-Inh) deficiency (C1-Inh-HAE) is a rare, life-threatening, and disabling genetic disorder characterized by self-limited tissue swelling caused by deficiency or dysfunction of C1-Inh. Our aim in this update
Geetika Sabharwal, Timothy Craig
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PARP inhibition: a promising therapeutic target in ovarian cancer [PDF]
Ovarian cancer is burdened by the highest mortality rate among gynecological cancers. Gold standard is represented by the association of platinum-taxane -based chemotherapy and radical surgery.
Abdul Halim, T +14 more
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Pediatric hereditary angioedema due to C1-inhibitor deficiency
Hereditary angioedema (HAE) resulting from the deficiency of the C1 inhibitor (C1-INH) is a rare, life-threatening disorder. It is characterized by attacks of angioedema involving the skin and/or the mucosa of the upper airways, as well as the intestinal
Farkas Henriette
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A novel assay to diagnose hereditary angioedema utilizing inhibition of bradykinin-forming enzymes. [PDF]
BACKGROUND: Hereditary angioedema types I and II are caused by a functional deficiency of C1 inhibitor (C1-INH), leading to overproduction of bradykinin. The current functional diagnostic assays employ inhibition of activated C1s; however, an alternative,
Agostoni +14 more
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