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Bonn, Germany

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.

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.

Muller A.M.,Universitatsklinik Bonn | Sarioglu N.,Charite - 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.

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.

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