Angelika Seitz
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View article: Navigating rare cancer care: Patient-reported insights into patient journeys, time to diagnosis, decision-making and care coordination from a national cross-sectional study in Germany
Navigating rare cancer care: Patient-reported insights into patient journeys, time to diagnosis, decision-making and care coordination from a national cross-sectional study in Germany Open
Patients with RC in Germany experience longer diagnostic pathways and fragmented care, highlighting the need for targeted, cross-sectoral care coordination and greater patient empowerment.
View article: An atypical presentation in a child with propionic acidemia? Better think twice!
An atypical presentation in a child with propionic acidemia? Better think twice! Open
This report details the case of an infant with confirmed propionic acidemia who presented with progressive neurological deterioration and recurrent episodes of metabolic decompensation with elevated lactate levels, but without hyperammonem…
View article: Correlation of endoscopic third ventriculostomy with postoperative body temperature elevation: a single-center retrospective comparative study
Correlation of endoscopic third ventriculostomy with postoperative body temperature elevation: a single-center retrospective comparative study Open
Postoperative fever following neuroendoscopic procedures has been well-documented, yet specific differentiation based on the nature and site of the procedure remains lacking. Given the anatomical involvement of the hypothalamus in temperat…
View article: Cerebrospinal fluid liquid biopsy guides differential diagnosis of relapsed medulloblastoma versus secondary glioma: A case report of a pediatric patient enrolled on a <i>PDGFRA</i> inhibitor trial
Cerebrospinal fluid liquid biopsy guides differential diagnosis of relapsed medulloblastoma versus secondary glioma: A case report of a pediatric patient enrolled on a <i>PDGFRA</i> inhibitor trial Open
Liquid biopsies have the potential to substantially transform clinical oncology, but their technical applicability and clinical utility in pediatric neuro-oncology remain to be explored. Here, we present a case of a medulloblastoma patient…
View article: A Retrospective Single-Center Study in 20 Patients With Midline Nasal Masses: Which Site Has the Highest Risk of Recurrence?
A Retrospective Single-Center Study in 20 Patients With Midline Nasal Masses: Which Site Has the Highest Risk of Recurrence? Open
Objectives: Midline nasal masses are rare and challenging for surgeons. This study examined the site with the highest risk of recurrence following midline nasal mass excisions. Methods: Surgical outcomes were retrospectively reviewed follo…
View article: Elexacaftor/tezacaftor/ivacaftor improves chronic rhinosinusitis detected by magnetic resonance imaging in children with cystic fibrosis on long-term therapy with lumacaftor/ivacaftor
Elexacaftor/tezacaftor/ivacaftor improves chronic rhinosinusitis detected by magnetic resonance imaging in children with cystic fibrosis on long-term therapy with lumacaftor/ivacaftor Open
ELX/TEZ/IVA therapy leads to improvement of CRS in eligible children with CF. Our data support the role of MRI for comprehensive monitoring of CRS disease severity and response to therapy in children with CF.
View article: Heidelberg ETV score to assess success of ETV in patients with occlusive hydrocephalus: a retrospective single-center study
Heidelberg ETV score to assess success of ETV in patients with occlusive hydrocephalus: a retrospective single-center study Open
In aqueduct stenosis, pressure difference below and above level of obstruction leads to bulging of third ventricular floor (TVF) and lamina terminalis (LT). Endoscopic third ventriculocisternostomy (ETV) is the standard treatment in these …
View article: Intracranial arachnoid cysts: What is the appropriate surgical technique? A retrospective comparative study with 61 pediatric patients
Intracranial arachnoid cysts: What is the appropriate surgical technique? A retrospective comparative study with 61 pediatric patients Open
Objective: Symptomatic intracranial arachnoid cysts (ACs) should be treated either through microsurgical (MS) or endoscopic surgical (ES) fenestration. Implantation of cysto-peritoneal shunt (CPS) system is another treatment option with de…
View article: Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging
Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging Open
Introduction: Chronic rhinosinusitis (CRS) usually presents with nasal congestion, rhinorrhea and anosmia impacts quality of life in cystic fibrosis (CF). Especially mucopyoceles pathognomonic for CRS in CF may cause complications such as …
View article: MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters
MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters Open
This case series presents radiomorphologic characteristics highly predictive of DGONC that contrast with the typical aspects of the original histopathologic diagnoses. This presentation underlines the definition of DGONC as a separate enti…
View article: Shuntoscope-Guided Versus Free Hand Technique for Ventricular Catheter Placement: A Prospective Comparative Study of Intra-Ventricular Catheter Tip Position and Complication Rate
Shuntoscope-Guided Versus Free Hand Technique for Ventricular Catheter Placement: A Prospective Comparative Study of Intra-Ventricular Catheter Tip Position and Complication Rate Open
Background: The position of the ventricular catheter (VC) is essential for a proper function of cerebrospinal fluid diversion system. A shuntoscope-guided (SG) method might be helpful in reducing complications. Objective: The purpose of th…
View article: Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental <scp>SDH</scp> despite newborn screening
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental <span>SDH</span> despite newborn screening Open
Subdural hematoma (SDH) was initially reported in 20% to 30% of patients with glutaric aciduria type 1 (GA1). A recent retrospective study found SDH in 4% of patients, but not in patients identified by newborn screening (NBS). 168 MRIs of …
View article: Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability Open
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework f…
View article: Brain Magnetic Resonance Imaging Reveals Different Courses of Disease in Pediatric and Adult Cerebral Malaria
Brain Magnetic Resonance Imaging Reveals Different Courses of Disease in Pediatric and Adult Cerebral Malaria Open
Background Cerebral malaria is a common presentation of severe Plasmodium falciparum infection and remains an important cause of death in the tropics. Key aspects of its pathogenesis are still incompletely understood, but severe brain swel…
View article: Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability
Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability Open
PURPOSE Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation fra…
View article: Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia
Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia Open
Background Until today, adult and pediatric clinical trials investigating single-agent or combinatorial HDAC inhibitors including vorinostat in solid tumors have largely failed to demonstrate efficacy. These results may in part be explaine…
View article: Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement Open
Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents with typical facial features, dental and ocular anomalies, and syndactyly. Oligosymptomatic patients…
View article: The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1 Open
Joubert syndrome (JS) is a congenital autosomal-recessive or-in rare cases-X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial …
View article: MOESM6 of Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia
MOESM6 of Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia Open
Additional file 6: PK parameters (± SD). Medians and means of all dose levels.
View article: Reduced cortical thickness in Heschl's gyrus as an in vivo marker for human primary auditory cortex
Reduced cortical thickness in Heschl's gyrus as an in vivo marker for human primary auditory cortex Open
The primary auditory cortex (PAC) is located in the region of Heschl's gyrus (HG), as confirmed by histological, cytoarchitectonical, and neurofunctional studies. Applying cortical thickness (CTH) analysis based on high‐resolution magnetic…
View article: Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity Open
While clinical findings are non-specific, frontotemporal hypoplasia and subependymal nodules are characteristic MRI findings of late-onset GA1 and should trigger diagnostic investigation for this rare disease. Apart from their apparent non…