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Muller A.M.,Universitatsklinik Bonn | Sarioglu N.,Charité - Medical University of Berlin
Pathologe | Year: 2012

During embryological development the heart develops from a simple tube into a complex fully developed heart with four chambers. Hence all congenital heart defects develop before the ninth week of gestation. Currently a steadily increasing number of genetic mutations have been found to be responsible for congenital heart defects. Nevertheless, up to now it has been impossible to diagnose a heart defect just on the basis of molecular pathology. Despite the current excellent prenatal and postnatal ultrasound diagnostics, the post-mortem examination is still the gold standard for the diagnosis of complex heart malformations. However, this requires knowledge of the pathomorphology of the heart malformation in question. Therefore, characteristic and distinguishing features of septal defects including atrioventricular septal defects are presented, especially as the latter are part of complex heart defects, such as conotruncal heart malformations. © Springer-Verlag 2012.

Background: Due to the increasing numbers of migrants and asylum seekers, hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency are no longer rare diseases in Germany. As a result of the current migration movements these genetically determined diseases will gain in importance. Methods: Following a literature search the prevalence of the original endemic regions was compiled and compared to the population composition based on statistical data on migrants, foreign residents and asylum seekers in Germany. Results: In the endemic regions a prevalence of 40 % and sometimes higher have been found for glucose-6-phosphate dehydrogenase deficiency and hemoglobinopathies. The number of people arriving in Germany from these endemic regions is rapidly increasing. Conclusion: Due to the high number of asylum seekers arriving from Asian and African regions, genetic erythrocyte defects will gain importance in the differential diagnosis of anemia; therefore, medical education and training must incorporate heightened awareness of risks, diagnostics and therapy of these disease patterns. © 2016, Springer-Verlag Berlin Heidelberg.

The diagnosis of hemoglobin variants that are not any of the better-known forms of thalassemia, sickle cell, HbC, HbD, or HbE anomalies is often challenging and requires detailed knowledge of the difference in symptoms and analysis. Experience in laboratory medicine plays an important role, as the range of variants is extensive and lack of expertise can result in a wrong diagnosis. Hemoglobin variants with low oxygen affinity may present cyanosis and low oxygen saturation levels, whereas variants with increased oxygen affinity show polyglobulia and concomitant complications. Differential diagnosis of methemoglobin variants requires careful assessment, which can be problematic especially in pediatric medicine. Other variants, due to their instability, can cause more or less distinct hemolysis or thalassemia syndromes depicting serious disease patterns. Clear distinction is not always possible, as several symptoms are often present. Many variants are autosomal dominant inherited. © 2015 by De Gruyter.

Hampel K.G.,Universitatsklinik Bonn | Elger C.E.,Universitatsklinik Bonn | Surges R.,Universitatsklinik Bonn
Aktuelle Neurologie | Year: 2016

Sudden unexpected death in epilepsy (SUDEP) is a frequent cause of premature death in people with epilepsy. Most SUDEP cases occur at night and are often unobserved, so that its underlying pathomechanisms are not fully understood. Most SUDEP cases, however, are most likely a fatal complication of epileptic seizures. According to recent studies, SUDEP is caused by a suppression of cardiorespiratory activity in the early phase following generalized tonic-clonic seizures that finally leads to death. Several factors appear to increase the risk of SUDEP; for instance, young male epilepsy patients with uncontrolled generalized tonic-clonic seizures die more frequently from SUDEP than other patients. Recent research aims at identifying genetic causes as well as structural and functional cerebral dysfunction, which may enable the future development of biomarkers for increased SUDEP risk. So far, effective anticonvulsive drug therapy is the only evidence-based preventive measure. Nocturnal supervision of people with epilepsy may reduce the risk of SUDEP, and early cardiopulmonary resuscitation may also prevent SUDEP. This review summarizes important facts, critically discusses new findings in SUDEP research and draws conclusions that are relevant for the daily clinical practice. © 2016 Georg Thieme Verlag KG Stuttgart New York.

Muhlenberg L.,Universitatsklinik Bonn | Schade G.,Universitatsklinik Bonn
Laryngo- Rhino- Otologie | Year: 2012

Background: In order to obtain a low-frequency specific auditory brainstem response (ABR) there are less stimuli that plege a satisfying accordance with the ABR threshold and the behavioural threshold. This study investigates the so called low-chirp-ABR as to predict a low-frequency-amblyacousia and compares it to the notched-noise-500 Hz-ABR. Material and Methods: We evaluated behavioural and ABR thresholds to a low-chirp respectively a 500 Hz tone presented in notched noise masking from 32 patients with a severe hearing loss at low-frequencies and 28 patients with normal hearing. Results: The average difference±single standard deviation between low-chirp-ABR and behavioural threshold is 1.53 dB±7.68 dB in the group of patient with low-frequency hearing loss and 2.55 dB±5.46 dB in the group of normal hearing. On the contrary the difference between notched-noise-500 Hz- and behavioural thereshold averages 2.67 dB±9.29 dB (low-frequency hearing loss) respectively 8.82 dB±7.90 dB (normal hearing). In order to verify the equivalence between the several methods we did a equivalence test that shows that low-chip-ABR and behavioural threshold can be considered as equal to obtain a low-frequency threshold. In contrast the comparison of notched-noise-500 Hz-ABR and behavioural threshold proves no equivalence. Conclusion: We detected a significant equivalence between low-chirp-ABR and pure-tone audiometric. The ABR to a low-chirp stimulus seems to be rather precise in contrast to the notched-noise-500 Hz-evoked-ABR in order to diagnose a low-frequency-hearing loss. © Georg Thieme Verlag KG Stuttgart · New York.

Wolter K.,Universitatsklinik Bonn | Decker G.,Universitatsklinik Bonn | Willinek W.A.,Universitatsklinik Bonn
RoFo Fortschritte auf dem Gebiet der Rontgenstrahlen und der Bildgebenden Verfahren | Year: 2013

Purpose: To evaluate the feasibility of transperineal MR-guided prostate biopsy using a stereotactical targeting system originally designed for anorectal usage. Materials and Methods: A commercially available DynaTRIM MR targeting system (Invivo corp., Gainesville FL, USA) originally designed only for anorectal application was used on a 70 cm wide-bore, whole-body 3 Tesla MR-system (Ingenia, Philips Healthcare, Best, NL). Transperineal biopsy was performed following mulitparametric MR imaging for targeting of the lesion. Results: The anorectal device allowed for correct localization and successful MR-guided transperineal biopsy of the targeted lesion. Conclusion: MR-guided transperineal biopsy is feasible using a commercially available anorectal stereotactic biopsy device. This may lead to a broader acceptance of this approach for targeted prostate biopsies. © Georg Thieme Verlag KG Stuttgart · New York.

Although it might be expected otherwise, greater than 50 % of organ graft recipients exhibit unsatisfactory adherence during post-transplant follow-up. Non adherence results in severe consequences such as delayed acute rejection episodes, increased graft loss and mortality. This review summarizes types and risk factors of non adherent behavior in transplanted patients and outlines possible strategies to improve patient adherence. © 2010 by Verlag Hans Huber, Hogrefe AG.

This paper provides evidence that pharyngeo-cardial propulsion in the oesophagus follows similar principles as translocation of luminal contents in other locations in the body. In brief, the following statements are discussed in the paper: 1. Only animals with a lung-based respiratory system have an oesophagus. 2. Its bulky muscular wall is made up of the elastic fibres which ensure that the oesophagus stays elastic during an entire lifetime. 3. While short-segment ring sphincter systems exist in several locations in the body, the lower oesophageal sphincter is maximally elongated. This configuration helps with the propulsion of luminal contents in addition to this sphincters opening and occlusive functions. 4. The musculature of the diaphragm is genetically related to the cervical muscles. The crural portion of the diaphragm works in coordination with the lower oesophageal stretch sphincter. 5.Gastro-oesophageal reflux disease is fairly common. In patients with this disorder, the oesophagus is too short and the stretch sphincter remains patent for abnormal periods of time. 6.When the stretch sphincter is surgically retightened by transposition of the oesophageal cardia into the abdomen, a proper function of the regulatory lower oesophageal stretch sphincter can be restored. 7.-9. All fundoplication procedures place the lower oesophageal sphincter under stretch, squeeze and create an oesophageal wrap out of gastric fundus tissue. X-ray images confirm in many patients undergoing fundoplication that the anatomic stretch sphincter already starts above and proximally to the plicated cuff. © Georg Thieme Verlag KG Stuttgart · New York.

Hoppe B.,Universitatsklinik Bonn
Nephrologe | Year: 2014

The three currently known forms of primary hyperoxaluria (PH) types I, II and III are autosomal recessive inherited defects of glyoxylate metabolism resulting in overproduction of endogenous oxalate and hence extremely elevated urinary oxalate excretion (>1 mmol/1.73 m2 body surface area per day; normal <0.5). Primary clinical hallmarks of PH are recurrent urolithiasis and/or progressive nephrocalcinosis. These and chronic inflammatory processes often lead to early renal failure in most PH type I and in 20% of PH type II patients resulting in systemic deposition of calcium oxalate crystals, which makes PH an often fatal multisystemic disease. Diagnosis is often missed or delayed until end-stage renal disease (ESRD) or when isolated kidney transplantation has failed due to recurrent oxalosis. Treatment options are scarce, even in patients with an early diagnosis. High fluid intake and medication to increase urine solubility of oxalate, e.g. alkaline citrate, are the therapy of choice. Pyridoxine treatment in PH type I may reduce oxalate excretion in about one third of the patients. In ESRD time on dialysis should be short to avoid severe systemic oxalosis, which would worsen transplantation outcome. Transplantation methods are different depending on the PH type and the individual clinical course, but combined or sequential liver/kidney transplantation is still the method of choice in PH I, whereas isolated kidney transplantation is performed in PH II. No patient with PH III has yet been reported to develop ESRD. © 2014 Springer-Verlag.

Hoffmann J.M.,Universitatsklinik Bonn
Zeitschrift fur Epileptologie | Year: 2014

Despite the use of a large variety of modern anticonvulsants in the management of epileptic seizures, there is a special patient population without measureable profit. This group of patients is amenable to new therapeutic approaches, such as vagus nerve stimulation (VNS) as a non-pharmacological treatment. This article elucidates the importance of VNS in the treatment of epilepsies, illustrates the procedure after implantation (e.g. ramp up and managing different duty cycles), summarizes the results of long-term VNS in different study groups and gives an insight into a new therapy vision. Over the years VNS has become established as an adjunct therapy for treatment of pharmacoresistant epilepsy and offers an innovative approach by a newly developed on demand autostimulation for the treatment of seizures. © 2014 Springer-Verlag.

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