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).     

Selective lymphoscintigraphy: a necessary adjunct to dye-directed sentinel node biopsy for breast cancer?

BACKGROUND: Dye-directed sentinel node biopsy (SNB) for breast cancer provides accurate staging with low morbidity, but for tumors distant from the axilla, its use has been questioned. HYPOTHESIS: Can preoperative breast lymphoscintigraphy (BL) applied selectively to medial hemisphere tumors predict a subset of patients who may not require surgical staging of the axilla? DESIGN: Prospective cohort study. SETTING: Tertiary, multidisciplinary breast center. PATIENTS: Thirty-two women with breast tumors located in the medial hemisphere (30) or inframammary crease (2). INTERVENTION: Peritumoral injection of 500 microCi of technetium Tc 99m sulfur colloid and biplanar imaging. Nonpalpable lesions were localized with ultrasound or mammography. At the time of definitive breast surgery, isosulfan blue dye-directed SNB was performed. Axillary dissection was performed when the SN contained a tumor or could not be identified. MAIN OUTCOME MEASURES: Regional nodal basins identified by BL; success rate of SNB. RESULTS: Preoperative BL demonstrated axillary drainage in 28 patients (88%); 2 patients (6%) had isolated internal mammary radionuclide uptake, and 2 patients had no nodal uptake. Dye-directed axillary SNB succeeded in 27 (87%) of 31 patients, including both patients with failed BL. Breast lymphoscintigraphy had predicted isolated internal mammary drainage in 2 of 4 patients whose SNs could not be identified. Metastases were found in 5 patients (16%). CONCLUSIONS: Axillary radionuclide uptake predicts but does not augment dye-directed SN identification. In those few patients with isolated internal mammary drainage, BL may obviate the need for surgical staging of the axilla.     

Randomized placebo-controlled study of low-dose warfarin for the prevention of central venous catheter-associated thrombosis in patients with cancer.

PURPOSE: In this multicenter, randomized, placebo-controlled clinical trial, we studied whether warfarin 1 mg daily reduces the incidence of symptomatic central venous catheter (CVC) -associated thrombosis in patients with cancer. PATIENTS AND METHODS: Two hundred fifty-five patients with cancer who required a CVC for at least 7 days were randomly assigned to receive warfarin 1 mg or placebo. RESULTS: There were 11 (4.3%) symptomatic CVC-associated thromboses among 255 patients, with no difference in the incidence of symptomatic CVC-associated thrombosis between patients taking warfarin 1 mg daily (six of 130 patients; 4.6%) and patients taking placebo (five of 125 patients; 4.0%; hazard ratio, 1.20; 95% CI, 0.37 to 3.94). Warfarin had no effect on CVC life span (84 days v 63 days in control and warfarin groups, respectively; 95% confidence limit, -16 to 55 days; P = .09), and it did not affect the number of premature CVC removals (23.2% v 25.4% in control and warfarin groups, respectively; 95% confidence limit of difference -8.34 to 12.71; P = .68) or the frequency of major bleeding episodes (2% v 0% in control and warfarin groups, respectively; P = .5, Fisher's exact test). CONCLUSION: Symptomatic CVC-associated thrombosis in patients with cancer, although significant, is less common than previously reported. In this study, the administration of warfarin 1 mg daily did not reduce the incidence of symptomatic CVC-associated thrombosis in patients with cancer. However, the low rate of symptomatic CVC-associated thrombosis means that a much larger trial is required to address this issue definitively.     

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.