A5075517813- Multiple Sclerosis Research Studies
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Systemic Lupus Erythematosus Research
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Retinal and Optic Conditions
- Genetics and Neurodevelopmental Disorders
- Diet and metabolism studies
- Ion Transport and Channel Regulation
- IL-33, ST2, and ILC Pathways
- Eosinophilic Esophagitis
- Polyomavirus and related diseases
- Neurological disorders and treatments
- Craniofacial Disorders and Treatments
- Nuclear Structure and Function
- Genetic and Kidney Cyst Diseases
- Tuberous Sclerosis Complex Research
- Whipple's Disease and Interleukins
- Neuroscience of respiration and sleep
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Genetic Syndromes and Imprinting
- Bartonella species infections research
- Autoimmune Neurological Disorders and Treatments
Cornell University
2023-2024
Georgetown University
2023
Klinik und Poliklinik für Kinder- und Jugendmedizin
2010-2017
University Hospital Münster
2008-2017
Zentrum für Kinderheilkunde
2008-2017
Innsbruck Medical University
2015
Universitätskinderklinik
2008
Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized of (SIGEI) with tonic clonic seizures (GTCS), and astatic (MAE) may show semiological overlaps. In GEFS+ families, all three phenotypes were found associated mutations the SCN1A gene. We analyzed gene 20 patients non-familial - including 12 probands original cohort used by Doose et al. 1970 to delineate MAE. addition, 18 sporadic SIGEI mostly without myoclonic-astatic analyzed. Novel 3 individuals. A frame shift...
Group 3 innate lymphoid cells (ILC3s) are abundant in the developing or healthy intestine to critically support tissue homeostasis response microbial colonization. However, intestinal ILC3s reduced during chronic infections, colorectal cancer, inflammatory bowel disease (IBD), and mechanisms driving these alterations remain poorly understood. Here we employed RNA sequencing of from IBD patients observed a significant upregulation RIPK3, central regulator necroptosis, inflammation. This was...
Die Möglichkeit der Entartung eines solitären Enchondroms des Handskeletts zum sekundären Chondrosarkom wird in Literatur kontrovers diskutiert und ist nur sehr selten belegt. wenigen beschriebenen Fälle halten nicht immer einer kritischen Überprüfung stand. Wir nahmen bei 77-jährigen Patientin die Resektion II. Fingerstrahls rechten Hand wegen Chondrosarkoms (Grad 2) Grundphalanx vor. legte 43 Jahre alte Röntgenaufnahmen vor, den typischen Befund Diaphyse Grundgliedes zeigten. Ganz...
Isolated optic neuritis in adults (ON) is the most common initial manifestation of multiple sclerosis (MS). Conversion to MS after childhood ON not well determined. We aimed identify risk factors predicting following and develop profiles with adjusted clinical follow-up based on current diagnostic tools. Medical records 42 cases isolated between 1970 2005 were analysed. In 2006 2007 all patients received a investigation including ophthalmological neurological examination, visual evoked...
Intrauterine epileptic seizures have rarely been reported to date and are surely underdiagnosed, as the possibility is not taken into consideration.
Blitz-Nick-Salaam (BNS) epilepsy (syn. West syndrome) is one of the severest forms generally involving impairments in child development which lead to permanent disability. In literature, there are only a few studies long-term progression syndrome and affected children. Most follow-up periods described these end before children 10 years old, majority follow-ups do not exceed 60 months.
The sphenoethmoidal cell (Onodi cell) is a quite posterior ethmoid with more cranial and dorsal extension which leads to displacement of sphenoidal sinus. Onodi shows very close proximity (medial, cranial, caudal) the optic canal respectively nerve.
Introduction: The congenital central hypoventilation syndrome (CCHS) is a rare, hereditary disorder involving dysfunction of autonomous respiratory control. One the causes CCHS that has been described mutation PHOX2b gene. We report case female patient first diagnosed as having at age 17 years.
Background: In childhood ischemic strokes, the impact of recanalization procedures like thrombectomy is unclear, considering different causes for stroke compared with adults, example, intracerebral stenosing vasculitis, which observed in childhood.
Aims: Some childhood epilepsy syndromes (e.g., idiopathic Lennox-Gastaut syndrome) show a distinct pharmacoresistance. In these cases, the ketogenic diet (KD) is therapeutic option. children with specific metabolic diseases GLUT-1 deficiency) even KD first-line treatment and preferred therapy. The study aims to provide efficacy safety profile of in pharmacoresistant epilepsy.
Aims: Optic neuritis (ON) in general is identified as one of the most frequent potential risk factors associated with future development multiple sclerosis (MS). In children, association between ON and MS seems to be weaker conversion rate after isolated much lower than adults. Here, we aim identify cerebrospinal fluid (CSF) peripheral blood (PB) cell composition activation status biomarkers distinguish children exclusive from high for MS.
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system with usually relapsing-remitting course disease. Therapy interferon-β recommended as well in children to reduce relapse rate and delay progression Fibroadenomas (FA) are benign neoplasms mammary gland. Their growth influenced by hormones. Changes these not previously reported under therapy interferon. We present case teenager MS rapid FA her interferon treatment.
Subject: Effectiveness and toleration of Lacosamide (LCM) in children with epilepsy younger than 16 years.
Aims: Some epilepsy syndromes in childhood (e.g., idiopathic Lennox-Gastaut syndrome) show a distinct pharmacoresistance. Possibly these cases, the ketogenic diet (KD) is therapeutic option. Furthermore, KD first line therapy children with specific metabolic diseases Glut-1 deficiency). We present our results of retrospective study patients regarding efficacy, safety, and adverse events.
Hypersomnia in children and adolescence can be caused by various factors. The most frequent cause is chronically shortened sleep due to poor hygiene. Sleep-related breathing disorders also lead increased daytime fatigue. Recurrent phases of hypersomnia accompanied abnormal behavior during these may indicate the Kleine-Levin syndrome.
Aims: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome affecting the skin, brain, kidneys, and heart. The recently approved mTOR inhibitor everolimus acts directly on pathomechanism of disorder. Studies documenting effectiveness in treating subependymal giant cell astrocytoma (SEGA) also indicate an improvement frequently therapy-resistant epilepsy.
Aims: The group of B vitamins consists eight which act as coenzymes in various metabolic pathways.
Abstract Group-3 innate lymphoid cells (ILC3s) are a recently described set of tissue resident immune which enriched in the intestine, express RORγt, and secrete variety effector cytokines to orchestrate homeostasis, inflammation, immunity. Crucially, intestinal ILC3 function frequency is dysregulated during inflammatory bowel disease (IBD). However, it remains unclear how ILC3s sense respond heterogeneity signals present microenvironment or this cell type becomes disrupted inflammation....
Abstract Giardia duodenalis is a common intestinal pathogen transmitted via consumption of contaminated water. In addition to causing distress symptoms, infection one the top 5 infectious causes growth stunting in children under two. Growth faltering complex pathology facilitated by changes barrier and enzymatic deficiencies. While widely associated with damage vitro, animal models, patient studies, mechanisms behind this process are not well understood. Since PAR2 has prominent role...