scholarly journals Clinical Features of Congenital Complete Vaginal Atresia combined with cervical aplasia: A Retrospective Study of 19 Patients and Literature Review

2021 ◽  
Author(s):  
Mei Ling ◽  
Zhang Heng ◽  
Chen Yueyue ◽  
Niu Xiaoyu
Keyword(s):  
Retrospective Study ◽  
Literature Review ◽  
Clinical Features ◽  
Vaginal Atresia

scholarly journals Clinical features and treatment outcomes of nail lichen planus: a retrospective study and literature review

2021 ◽  
Author(s):  
Panrudee Wechsuruk ◽  
Sumanas Bunyaratavej ◽  
Rungsima Kiratiwongwan ◽  
Pranittra Suphatsathienkul ◽  
Supisara Wongdama ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Literature Review ◽  
Treatment Outcomes ◽  
Lichen Planus ◽  
Clinical Features

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Features ◽  
Rare Diseases ◽  
Rare Complication ◽  
Genetic Diseases ◽  
Related Effect ◽  
Higher Sensitivity ◽  
Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

Sign in / Sign up

Export Citation Format

Share Document