Publications by authors named "Stefanie Heinrich"
Article Synopsis
- The study focuses on PLA2G6-associated neurodegeneration (PLAN), which includes three diseases with similar symptoms, particularly highlighting infantile neuroaxonal dystrophy (INAD), a condition that affects vision and motor skills from an early age.
- Researchers estimated the genetic prevalence of PLAN using two approaches: collecting genetic variant data from various databases and analyzing literature to find additional relevant variants. They determined that the estimated prevalence ranges from 1 in 987,267 to 1 in 1,570,079 pregnancies.
- The findings indicate a significant underdiagnosis of PLAN and suggest a higher presence of PLA2G6 variants in African and Asian populations, emphasizing the need for better diagnostic efforts
Background: ENPP1 Deficiency-caused by biallelic variants in ENPP1-leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive Hypophosphatemic Rickets type 2, ARHR2). A prior study using the Exome Aggregation Consortium (ExAC)-a database of exomes obtained from approximately 60,000 individuals-estimated the genetic prevalence at approximately 1 in 200,000 pregnancies.
Methods: We estimated the genetic prevalence of ENPP1 Deficiency by evaluating allele frequencies from a population database, assuming Hardy-Weinberg equilibrium.
Objectives: Lefamulin, a pleuromutilin antibiotic approved for community-acquired bacterial pneumonia (CABP), was evaluated for microbiological efficacy in a prespecified pooled analysis of LEAP 1 and 2 phase 3 clinical trial data in patients with CABP.
Methods: In LEAP 1, adults (PORT risk class III‒V) received intravenous (IV) lefamulin 150 mg every 12 h (q12h) for 5‒7 days or moxifloxacin 400 mg every 24 h (q24h) for 7 days, with optional IV-to-oral switch. In LEAP 2, adults (PORT II‒IV) received oral lefamulin 600 mg q12h for 5 days or moxifloxacin 400 mg q24h for 7 days.
Background: Monomers of the collectin surfactant associated protein-A (SP-A) are arranged in trimers and higher oligomers. The state of oligomerization differs between individuals and likely affects SP-A's functional properties. SP-A can form aggregates together with other SP-A molecules.
View Article and Find Full Text PDFHuman SNM1B/Apollo is involved in the cellular response to DNA-damage, however, its precise role is unknown. Recent reports have implicated hSNM1B in the protection of telomeres. We have found hSNM1B to interact with TRF2, a protein which functions in telomere protection and in an early response to ionizing radiation.
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