Search results for "Genetics"

Measuring patient experiences in fabry disease: validation of the Fabry Outcome Survey (FOS) paediatric health and pain questionnaire

2011

Consensus recommendation on a diagnostic guideline for acid sphingomyelinase deficiency

2017

The neonatal phenotype of Prader–Willi syndrome

2006

�ber den Nachweis eines Neurohormones beim Laubmooscallus und seine Beeinflussung durch das Phytochrom

1971

The presence of a neurohormone in moss callus could be demonstrated by means of pharmacological experiments on the heart of the frog (Rana temporaria L.) and by chromatography.The hearts react in the same manner as they do to application of acetylcholine and the substance resembles acetylcholine in its Rf-value. Therefore it is suggested that this hormone is identical with acetylcholine. The concentration of the hormone in the callus cells is mediated by the phytochrome. Moss callus cultivated under red and far-red illumination contain less substance than moss callus grown in red light.

An unmet medical need:advances in endoscopic imaging of colorectal neoplasia

2011

Gastrointestinal cancer is a major public health problem worldwide. Detection of early neoplastic lesions in gastrointestinal tract is essential for cure, because prognosis and survival are related to the size and stage of malignant lesions. Endoscopic screening and treatment of polyps could prevent approximately 80% of colorectal cancer (CRC). However, white-light endoscopy is an imperfect technology since miss rates of up to 25% have been reported and polyps without malignant potential were treated without benefit but with additional costs and risks to the patient. There are several known "human" predictors of an inadequate colonoscopy. These include patient characteristics such as poor b…

Isoflavones and cardiovascular disease

2010

The specific profile of estrogens on cardiovascular risk, with limiting action on atherogenesis but a less clear protection on cardiovascular episodes, might be improved by other agonists of the estrogen receptor, such as isoflavones. By using a systematic search based on the electronic Medline database plus a hand-search of reference lists of selected review papers, we reviewed the rapidly growing body of experimental and clinical data that, on average, follow a pattern of benefit rather similar to estrogens. Experimental models have used endothelial and vascular smooth muscle cells, isolated arteries, and live animals, including monkeys. The clinical evidence arises from studies on the li…

Intravenous ascorbic acid to prevent and treat cancer-associated sepsis?

2011

Abstract The history of ascorbic acid (AA) and cancer has been marked with controversy. Clinical studies evaluating AA in cancer outcome continue to the present day. However, the wealth of data suggesting that AA may be highly beneficial in addressing cancer-associated inflammation, particularly progression to systemic inflammatory response syndrome (SIRS) and multi organ failure (MOF), has been largely overlooked. Patients with advanced cancer are generally deficient in AA. Once these patients develop septic symptoms, a further decrease in ascorbic acid levels occurs. Given the known role of ascorbate in: a) maintaining endothelial and suppression of inflammatory markers; b) protection fro…

Splenic respiratory gas exchange and glucose uptake in patients with splenomegaly in hypersplenism and Hodgkin's disease.

1977

Blood samples are taken from the splenic artery, vein and pulp of patients suffering from Hodgkin's disease (n=10) or hypersplenism (n=7) and undergoing splenectomy. In these samples, the relevant parameters of the respiratory gas exchange as well as glucose and lactate concentrations are determined. In hypersplenism (mean splenic wet weight: 543 g) the mean oxygen consumption of the splenic tissue amounts to 0.9 ml O2/100 g/min taking into account a mean splenic blood flow of 80 ml/100 g/min. The glucose uptake and the lactate release are 9 mg/100 g/min and 5.5 mg/100 g/min, respectively. These values are in close agreement with the results obtained in the normal and undisturbed spleen in …

Current Surgical Treatment Standards for Esophageal and Esophagogastric Junction Cancer

2020

A number of different surgical techniques for the treatment of cancer of the esophagus and the esophagogastric junction have been proposed. Guidelines generally recommend a transthoracic approach for esophageal cancer, including Siewert type I tumors. In tumors of the proximal esophageal third, transthoracic esophagectomy may be extended to a three-field approach, including resection of cervical lymph nodes. However, the choice between transthoracic esophagectomy with intrathoracic anastomosis (Ivor Lewis esophagectomy) and the three-incision approach with cervical esophago-gastrostomy (McKeown esophagectomy) remains controversial, with guidelines varying among different countries. Furtherm…

Surgical robotics for esophageal cancer

2018

We present an update on robotic techniques and their advantages and use in esophageal cancer surgery. Recent work has shown tremendous progress in robotic-assisted minimally invasive esophagectomy (RAMIE) and lymphadenectomy for esophageal cancer, as well as benefits of robotic surgery in high upper esophageal tumors and T4b disease. We discuss the different RAMIE techniques, especially for intrathoracic anastomosis. The ongoing ROBOT trial had demonstrated superiority of robotic esophageal cancer surgery over open esophagectomy. There are various putative technical advantages of RAMIE over minimally invasive esophagectomy, which need to be proven in future trials.