Publications by authors named "C Lippe"
Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.
Results: The purpose of this study was to explore parental experiences of caring for a child with EB.
Article Synopsis
- - WDR83OS encodes a protein called Asterix, which works with another protein, CCDC47, to help fold large proteins correctly, specifically those with transmembrane domains.
- - Recent findings linked mutations in CCDC47 and WDR83OS to trichohepatoneurodevelopmental syndrome, showing consistent symptoms like neurodevelopmental disorders, facial dysmorphism, and liver dysfunction across multiple families.
- - A zebrafish model lacking Wdr83os function demonstrated its crucial role in the nervous system and lipid absorption, further establishing a connection between WDR83OS mutations and neurological diseases characterized by elevated bile acids.
Article Synopsis
- The study focuses on congenital aniridia, an eye condition where the iris is absent, and examines how it affects the health-related quality of life (HRQoL) of adults.
- Results showed that adults with aniridia had significantly lower HRQoL scores compared to the general population, indicating poorer health perceptions.
- The study found that low HRQoL was linked to factors like ocular pain, higher anxiety and depression symptoms, and obesity.
Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study.
Health Psychol Behav Med
October 2023
Background: Congenital aniridia is a rare genetic disorder of the eye characterized by visual impairment and progressive vision loss. While prior research has focused on ocular manifestations in individuals with aniridia, there is a dearth of research on impacts on cognition and mental health. The aims of this study were to describe subjective symptoms of everyday executive functioning, fatigue and sleepiness in adults with aniridia and to compare self-reported health status with that of a normative reference group.
View Article and Find Full Text PDFDry eye in the upper blepharoplasty patient: a study comparing orbicularis-sparing versus orbicularis-excising techniques.
Graefes Arch Clin Exp Ophthalmol
December 2023
Purpose: To compare subjective and objective dry eye syndrome (DES) metrics preoperatively and postoperatively in patients undergoing bilateral upper eyelid blepharoplasty (ULB) using orbicularis-sparing versus orbicularis-excising techniques.
Methods: A double-blind, randomized clinical trial was conducted on patients without prior DES or other severe conditions who presented to our institution between 2017 and 2019 for routine functional ULB. Patients were randomized into two treatment arms: bilateral ULB using the orbicularis-sparing technique or bilateral ULB using the orbicularis-excising technique.