Élise Schaefer
A5037443657- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Cinema and Media Studies
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Hedgehog Signaling Pathway Studies
- RNA modifications and cancer
- Neuroscience of respiration and sleep
- Sexuality, Behavior, and Technology
- Epigenetics and DNA Methylation
- Breastfeeding Practices and Influences
- Infant Development and Preterm Care
- Dermatological and Skeletal Disorders
- Child and Adolescent Psychosocial and Emotional Development
- Congenital heart defects research
- Advanced Breast Cancer Therapies
- Neonatal Respiratory Health Research
- Renal and related cancers
- Trauma and Emergency Care Studies
- Economic and Financial Impacts of Cancer
- Renal cell carcinoma treatment
- Emergency and Acute Care Studies
- Craniofacial Disorders and Treatments
Pennsylvania State University
2016-2025
Hôpitaux Universitaires de Strasbourg
2016-2025
Université de Strasbourg
2013-2025
Inserm
2010-2025
Génétique Médicale & Génomique Fonctionelle
2014-2025
Hôpital d'Hautepierre
2013-2025
Penn State Milton S. Hershey Medical Center
2014-2024
Hôpital Saint-Vincent-de-Paul
2024
Groupe Hospitalier de l'Institut Catholique de Lille
2024
Medford Radiology Group
2024
<h3>Background:</h3> The database of the German programme for quality in healthcare including data every hospitalised patient with community-acquired pneumonia (CAP) during a 2-year period (n = 388 406 patients 2005 and 2006) was analysed. <h3>Methods:</h3> End points analysis were: (1) incidence; (2) outcome; (3) performance CRB-65 (C, mental confusion; R, respiratory rate ⩾30/min; B, systolic blood pressure <90 mm Hg or diastolic ⩽60 Hg; 65, age ⩾65 years) score predicting death; (4)...
Postpartum anxiety screening does not typically occur, despite changes in life roles and responsibility after childbirth. We sought to determine the prevalence of postpartum during maternity hospitalization its associations with maternal child outcomes. further aimed compare correlates depression.For a randomized controlled trial mothers "well" newborns ≥34 weeks' gestation comparing 2 post-hospital discharge care models, completed baseline in-person interviews stay telephone surveys at...
The majority of newborns are exclusively breastfed during the birth hospitalization, and weight loss is nearly universal for these neonates. amount lost varies substantially among with higher amounts increasing risk morbidity. No hour-by-hour newborn nomogram exists to assist in early identification those on a trajectory adverse outcomes.
Objective: Anecdotally, breastfeeding experiences differ between those who have previously nursed an infant and are primiparous. This analysis contrasted outcomes primiparous women with previous experience spanning from maternity stay through 6 months postpartum. Study Design: A secondary was conducted of data collected in a randomized, controlled trial mothers "well" newborns ≥34 weeks gestation comparing two post–hospital discharge care models. Mothers completed in-person interview during...
Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with protein BBIP1/BBIP10 into BBSome, complex that ferries signalling receptors from cilia.Exome sequencing performed on sporadic case revealed for first time homozygous stop mutation (NM_001195306: c.173T>G,...
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, abnormally centralized nuclei. Autosomal dominant CNM due to mutations in the large GTPase dynamin 2 (DNM2), mechanochemical enzyme regulating cytoskeleton membrane trafficking cells. To date, 40 families CNM-related DNM2 have been described, here we report 60 additional encompassing broad genotypic phenotypic spectrum. In total, 18...
<h3>Background</h3> Bardet–Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction. The 16 BBS genes known to date are implied in the primary cilia related cellular pathways. <h3>Methods results</h3> Single nucleotide polymorphism (SNP) array analysis followed exome sequencing was performed a consanguineous family diagnosed with unusual...
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum a larger cohort of SCL6A1 ‐mutated patients. Methods collected 24 probands 6 affected family members. Four previously published cases included for further electroclinical description. In total, we reviewed data 34 subjects. Results Cognitive development was impaired 33/34 (97%) subjects; 28/34 had...
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six 1000 live births, represent about 20% prenatally detected anomalies, constitute main cause CKD children. These disorders are phenotypically genetically heterogeneous. Monogenic causes CAKUT humans mice have been identified. However, despite high-throughput sequencing studies, disease remains unknown most patients, several studies support more complex inheritance role environmental factors and/or epigenetics...
Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at presentation, evolving through a caudocranial pattern into generalized dystonia, prominent oromandibular, laryngeal cervical involvement. Although KMT2B-related is emerging as one the most common causes early-onset genetic much remains to be understood about full spectrum disease. We describe cohort...
Background This two-stage, multi-institutional, randomized phase 2 trial assessed the toxicity and response rate associated with two treatment schedules of histone deacetylase inhibitor, vorinostat (suberoylanilide hydroxamic acid; SAHA) in patients relapsed acute myeloid leukemia selected untreated high-risk leukemia.Design Methods Patients or who were not candidates for chemotherapy entered one arms. In both arms a total dose 8400 mg was delivered each 21-day cycle treatment: arm A regimen...
<h3>Importance</h3> Bisphenol A (BPA), a prevalent endocrine-disrupting chemical, has been associated with wheezing in children, but few studies have examined its effect on lung function or wheeze older children. <h3>Objectives</h3> To test whether BPA exposure is function, wheeze, and pattern of children during their first 5 years. <h3>Design, Setting, Participants</h3> birth cohort study, enrolled early pregnancy the greater Cincinnati, Ohio, area among 398 mother-infant dyads. We...
<h3>Importance</h3> In trauma populations, improvements in outcome are documented institutions with higher case volumes. However, it is not known whether improved outcomes attributable to the volume within specific higher-risk groups, such as elderly, or among all patients treated by an institution. <h3>Objective</h3> To test hypothesis that of care for geriatric affected differently cases and nongeriatric <h3>Design, Setting, Participants</h3> This retrospective cohort study using a...
Postpartum depression (PPD) is a common complication of childbearing, but the course PPD not well understood. We analyze trajectories and key risk factors associated with these in peripartum postpartum period.
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical molecular study of 39 patients affected syndrome. Among them, 19 were diagnosed after the detection 16q24.3 deletion encompassing gene array CGH. In 20 remaining patients, suspicion was confirmed identification an mutation direct sequencing. present arguments modulate previously reported diagnostic criteria. Macrodontia...