A5066930727- Metabolism and Genetic Disorders
- Cleft Lip and Palate Research
- Folate and B Vitamins Research
- Neonatal Respiratory Health Research
- Child and Adolescent Health
- Congenital Ear and Nasal Anomalies
- Craniofacial Disorders and Treatments
- Pancreatic function and diabetes
- Congenital Anomalies and Fetal Surgery
- Diabetes Management and Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Esophageal and GI Pathology
- Genomics and Rare Diseases
- Congenital Diaphragmatic Hernia Studies
- Birth, Development, and Health
- Head and Neck Cancer Studies
- COVID-19 Clinical Research Studies
- Mitochondrial Function and Pathology
- Urological Disorders and Treatments
- COVID-19 Impact on Reproduction
- Gastrointestinal disorders and treatments
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Medical Imaging and Pathology Studies
- Salivary Gland Tumors Diagnosis and Treatment
Helios Vogtland Klinikum Plauen
2015-2024
Klinik und Poliklinik für Kinder- und Jugendmedizin
2023
University Hospital Magdeburg
2009-2012
Otto-von-Guericke University Magdeburg
2006-2011
Experimental Factory Magdeburg
2010
New technology enables expansion of newborn screening (NBS) inborn errors aimed to prevent adverse outcome. In conditions with a large share asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout United States, Australia, and Europe due limited data on outcome treatability candidate conditions. We elaborated rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts...
<i>Background:</i> Congenital hyperinsulinism (CHI) is characterized by severe hypoglycemia caused dysregulated insulin secretion. The long-term outcome dependent on prevention of hypoglycemic episodes to avoid the high risk permanent brain damage. Severe cases are usually resistant diazoxide or nifedipine. In addition, somatostatin analogues ineffective in a subgroup patients achieve stable euglycemia. these infants only remaining option has been subtotal pancreatectomy with...
Variants in the interferon regulatory factor 6 ( IRF6 ) gene have repeatedly been associated with non‐syndromic cleft lip or without palate (NSCL/P). A recent study has suggested that functionally relevant variant rs642961 is underlying cause of observed associations. We genotyped our Central European case–control sample 460 NSCL/P patients and 952 controls. In order to investigate whether other variants contribute independently etiology NSCL/P, we also non‐synonymous coding V274I...
Abstract Purpose During fall 2021, children’s hospitals in Germany faced a surge RSV-related hospitalizations, whereas during fall/winter 2022–2023, RSV and influenza infections both led to increased inpatient admissions. Our study prospectively assessed severe acute respiratory infections, their causative pathogens, the resulting disease burden on German children's for 2023–2024 season. Methods From October 3, 2023 through April 16, 2024, children hospitalized with ARI as primary diagnosis...
Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic environmental components. MYH9, gene coding for heavy chain non-muscle myosin II, been considered as good candidate in NSCL/P on basis its expression profile during craniofacial morphogenesis. Reports an Italian sample, well ethnically mixed North American positive association between single-nucleotide polymorphisms MYH9 have provided...
Objectives In a contemporary cohort of youth with type 1 diabetes, we examined the interval between episodes severe hypoglycemia (SH) as risk factor for recurrent SH or hypoglycemic coma (HC). Methods This was large longitudinal observational study. Using DPV Diabetes Prospective follow-up data, analyzed frequency and timing (defined requiring assistance from another person) HC (loss consciousness seizures) in 14 177 youths diabetes aged <20 years at least 5 follow-up. Results Among patients...
Background Adequate evidence on environmental risk factors for anorectal malformations (ARMs) is very limited. We assessed maternal body weight and several prenatal exposures of the parents to tobacco, pregestational diabetes, chronic cardiovascular respiratory diseases, periconceptional folic acid multivitamin intake. Methods Data from German Network Congenital Uro‐REctal (CURE‐Net) were compared with data Malformation Monitoring Centre Saxony‐Anhalt Otto‐von‐Guericke University in...
<ns4:p><ns4:bold>Background: </ns4:bold>Large contiguous gene deletions at the distal end of short arm chromosome 9 result in complex multi-organ condition 9p deletion syndrome. A range clinical features can from these with most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely reported feature syndrome genetic mechanism for dysregulated insulin secretion unknown. </ns4:p><ns4:p> <ns4:bold>Methods: </ns4:bold>We studied characteristics 12...
<ns4:p><ns4:bold>Background: </ns4:bold>Large contiguous gene deletions at the distal end of short arm chromosome 9 result in complex multi-organ condition 9p deletion syndrome. A range clinical features can from these with most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely reported feature syndrome genetic mechanism for dysregulated insulin secretion unknown. </ns4:p><ns4:p> <ns4:bold>Methods: </ns4:bold>We studied characteristics 12...
Fragestellung: Die vorliegende Arbeit umfasst den Aufbau einer passiven und zeitlich determinierten Fehlbildungserhebung für das Land Mecklenburg-Vorpommern der Jahre 2002–2004. Hierbei soll die Häufigkeit angeborener Fehlbildungen bei Lebend- Totgeborenen sowie Aborten unter Berücksichtigung verschiedener Begleitdaten ermittelt werden.
Die Myosonographie ist ein wichtiges bildgebendes Verfahren in der Diagnostik neuromuskulärer Erkrankungen. Im Folgenden werden anatomische und technische Grundlagen erläutert sowie charakteristische Befunde verschiedener Krankheitsbilder dargestellt. Dies soll den Leser befähigen, die Muskelultraschalluntersuchung im klinischen Kontext einzuordnen anzuwenden.
Einleitung: Die Neuralrohrdefektprophylaxe durch eine Folsäuresupplementation ist als wissenschaftlich fundierte Möglichkeit zu sehen, einer der schwersten und häufigsten angeborenen Fehlbildungen vorzubeugen. Untersuchungen des Fehlbildungsmonitorings Sachsen-Anhalt haben bereits 1998 gezeigt, dass die Empfehlungen deutscher Fachgesellschaften perikonzeptionellen Folsäureeinnahme nur unzureichend von Frauen im gebärfähigen Alter umgesetzt wurden. Methoden: Um Fragestellung nachzugehen, ob...
Angeborene Fehlbildungen werden bei 3–7 von 100 Neugeborenen beobachtet. Sie stellen für die betroffenen Familien eine extreme ―Belastungs―situation dar. Für Begleitung Eltern, deren Kind Fehlbildung oder Chromosomenstörung vermutet bzw. diagnostiziert wurde, sind Kenntnisse über Häufigkeit, Ursachen und auch Möglichkeiten der Prävention angeborener wichtig.
Mehr als 600 verschiedene, meist monogenetische metabolische Störungen wurden bereits beschrieben. Sie können sich in jedem Lebensalter manifestieren. Lebensbedrohliche Krisen sind bei Stoffwechselerkrankungen vom Intoxikationstyp oder infolge eines Energiemangels möglich. Betroffene Organe je nach Erkrankung Leber, Herz- und Skelettmuskel das Gehirn.