Tyrosinämie Typ I

Tyrosinemia type I is an autosomal recessive inherited defect of tyrosine metabolism. The underlying cause is a defect of fumarylacetoacetate hydrolase. The disease affects the liver (acute liver failure, liver cirrhosis, hepatocellular cancer), the kidney (tubulopathy with hypophosphatemic rickets), and the peripheral nervous system (paresthesia, vegetative symptoms, progressive paralysis). Beside the hypertyrosinemia the diagnosis can be made on the basis of urinary excretion of a pathological metabolite of the tyrosine metabolism (succinylacetone). Therapeutic options are a regulated phenylalanine/tyrosine diet, a very effective drug therapy (NTBC) that has been available for several years, and in cases of acute liver failure or end-stage liver cirrhosis a liver transplantation.     

Lactobacillus bei Schwangeren

Ohne Zusammenfassung     

Fetofetales Transfusionssyndrom

In monochorionic twin pregnancies, the risk of developing a twin to twin transfusion syndrome is between 15 and 20%. Using high-resolution ultrasound machines, sonographic images demonstrate the detailed features of placental development. The lambda sign was established for the diagnosis of dichorionic placenta and the T sign for monochorionic placenta at the end of the first trimester. Other sonographic findings of the twin to twin transfusion syndrome are monochorionicity, same sex, polyhydramnios, permanently filled bladder in the recipient, and oligo/anhydramnios of the donor with a slightly filled or empty bladder. Fetoscopic laser treatment has become an accepted procedure to coagulate the placental anastomoses. This development is supported by actual studies about psycho- and neuromotoric development in early childhood, which shows a lower rate of disabled children in the group receiving laser therapy in comparison to the group undergoing amnioreduction. Twin pregnancies complicated by twin to twin transfusion syndrome should be treated in specialized prenatal centers.     

Diagnostik und Therapie der auditorischen Synaptopathie/Neuropathie

Pathological auditory brainstem responses (lack of responses, elevated thresholds and perturbed waveforms) in combination with present otoacoustic emissions are typical audiometric findings in patients with a hearing impairment that particularly affects speech comprehension or complete deafness. This heterogenous group of disorders first described as “auditory neuropathy” includes dysfunction of peripheral synaptic coding of sound by inner hair cells (synaptopathy) and/or of the generation and propagation of action potentials in the auditory nerve (neuropathy). This joint statement provides prevailing background information as well as recommendations on diagnosis and treatment. The statement focuses on the handling in the german language area but also refers to current international statements.     

Aktuelle Leitlinien zur interventionellen Mammadiagnostik

Minimally invasive diagnostic procedures for the breast under mammography, ultrasound, and magnetic resonance guidance have led to a higher specificity of imaging techniques and a decrease in open biopsy of the breast. The percutaneous approach is more cost and time effective and reduces morbidity compared with open biopsy. The “Step-3-guideline for early breast cancer detection in Germany” represents the first national guidelines for a nationwide, quality assured, early breast cancer detection program, including recommendations for minimally invasive breast diagnostics. Indications for ultrasound guided vacuum biopsy of the breast are summarized in the “Consensus on the use and technique of vacuum-assisted sonographic breast biopsy” by the Study Group on Minimally Invasive Breast Interventions (AG MiMi) of the German Society of Senology (DGS).     

Strahlentherapie des Schilddrüsenkarzinoms

Zusammenfassung Beim differenzierten Schilddrüsenkarzinom besteht bei nicht Organkapsel überschreitendem Tumorwachstum und adäquater Operation keine Indikation zur postoperativen Bestrahlung. Bei Patienten mit Organkapsel überschreitendem Wachstum wird nach vollständiger Resektion der Nutzen einer zusätzlichen perkutanen Radiotherapie kontrovers diskutiert. Die MSDS-Studie (Multizenterstudie Differenziertes Schilddrüsenkarzinom), die eine Randomisierung genau zu dieser Fragestellung durchführte, musste aufgrund der mangelnden Rekrutierung vorzeitig beendet werden. Beim anaplastischen Schilddrüsenkarzinom wird die vollständige Resektion angestrebt. Die postoperative Bestrahlung ist dann obligat. Bei Therapieprotokollen mit zusätzlicher Adriamycingabe konnten erhöhte lokale Kontroll- und Überlebensraten beobachtet werden. Bei medullärem Schilddrüsenkarzinom und inkompletter Tumorresektion geht eine additive Radiotherapie mit einer verbesserten lokalen Kontrolle einher. Bei nicht Radiojod speichernden Metastasen des Schilddrüsenkarzinoms wird die Radiotherapie im Bereich des Knochens bei Schmerzen, Frakturgefahr oder Myelonkompression eingesetzt.     

Moderne immuntherapeutische Ansätze für die Behandlung von Lungen- und Kopf-Hals-Tumoren

Zusammenfassung Multimodale Therapiestrategien, die Chirurgie, Strahlen- und Chemotherapie kombinieren, haben die Behandlungsergebnisse bei Tumoren der Lunge und der Kopf-Hals Region verbessert. Die Ergänzung des Therapiespektrums um weitere Ansätze, die sich in der Wirkungsweise und möglichst durch reduzierte Toxizität von den konventionellen unterscheiden, erscheint jedoch zur Erzielung weiterer Fortschritte notwendig. Eine neue Generation immunologischer passiver (antikörperbasierter) und auch aktiver (Vakzinierungs-) Strategien erscheint aussichtsreich und befindet sich gegenwärtig in der klinischen Prüfung. Die Untersuchung der optimalen zeitlichen Sequenz in Kombination mit den konventionellen Therapieverfahren und die Individualisierung der Therapie auf Basis genomischer/proteomischer Daten muss die klinische Integration begleiten.     

Therapieprinzipien beim Lokalrezidiv des Rektumkarzinoms

The aim of treatment in isolated locally recurrent rectal cancer is R0 resection, which is possible in 30%. Because of the high rate of surgical complications after repeat surgery in the pelvis, preoperative staging has to be precise to estimate the extent and location of the recurrent rectal cancer. After exclusion of distant metastases, surgery should be considered following preoperative radiochemotherapy if possible. When a curative treatment concept is not indicated, radiotherapy is the best treatment choice. This paper presents various tabularised summaries about therapeutic strategies in isolated locally recurrent rectal cancer.     

Kann die Telemedizin in der Schlafmedizin die Akzeptanz der nCPAP-Therapie verbessern?

The obstructive sleep apnea syndrome has considerable consequences for morbidity and mortality in affected patients. The continuous positive airway pressure (CPAP) therapy can reliably prevent the nocturnal disordered breathing and minimize health implications (high efficacy). However, the effectiveness of this therapy is restricted due to reduced adherence in the daily routine. Practical methods are urgently needed to improve adherence. Special problem groups, such as post-stroke patients or those with poor sleep efficiency in the first therapy night have already been identified. Up to date information technology enables remote monitoring and control of therapy devices and a centralized evaluation of the data. Usage time, residual breathing disorders, high mask leakage or high therapy pressure in the home environment can promptly be determined to arrange remedies in a timely manner. Scientific evidence regarding the effects of telemedical care of CPAP patients is limited, but the results of available studies are promising. Many practical questions have still not been answered. Furthermore, the danger of using the new technologies only with the aim of short-term cost reduction must explicitly be emphasized. If such information would only be used to discontinue funding of an allegedly insufficient treatment, no additional benefits would be achieved from the patient point of view. The aim of telemedical concepts has to be the improvement of therapy acceptance especially in risk groups. From the perspective of sleep medicine a primacy of physicians is promoted in order to achieve a real improvement for the patient due to telemedicine. The findings obtained so far are promising.