Medical University of Graz

About: Medical University of Graz is a education organization based out in Graz, Steiermark, Austria. It is known for research contribution in the topics: Population & Medicine. The organization has 5684 authors who have published 12349 publications receiving 417282 citations.

Vitamin D deficiency 2.0: an update on the current status worldwide.

Abstract: Vitamin D testing and the use of vitamin D supplements have increased substantially in recent years. Currently, the role of vitamin D supplementation, and the optimal vitamin D dose and status, is a subject of debate, because large interventional studies have been unable to show a clear benefit (in mostly vitamin D replete populations). This may be attributed to limitations in trial design, as most studies did not meet the basic requirements of a nutrient intervention study, including vitamin D-replete populations, too small sample sizes, and inconsistent intervention methods regarding dose and metabolites. Vitamin D deficiency (serum 25-hydroxyvitamin D [25(OH)D] 50 nmol/L or 20 ng/ml is, therefore, the primary treatment goal, although some data suggest a benefit for a higher threshold. Severe vitamin D deficiency with a 25(OH)D concentration below <30 nmol/L (or 12 ng/ml) dramatically increases the risk of excess mortality, infections, and many other diseases, and should be avoided whenever possible. The data on a benefit for mortality and prevention of infections, at least in severely deficient individuals, appear convincing. Vitamin D is clearly not a panacea, and is most likely efficient only in deficiency. Given its rare side effects and its relatively wide safety margin, it may be an important, inexpensive, and safe adjuvant therapy for many diseases, but future large and well-designed studies should evaluate this further. A worldwide public health intervention that includes vitamin D supplementation in certain risk groups, and systematic vitamin D food fortification to avoid severe vitamin D deficiency, would appear to be important. In this narrative review, the current international literature on vitamin D deficiency, its relevance, and therapeutic options is discussed.

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Abstract: Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C, or D, leading to dysfunction of complex II of the electron transport chain. We evaluated the role of defective cellular respiration in sporadic GIST lacking mutations in KIT or PDGFRA (WT). Thirty-four patients with WT GIST without a personal or family history of paraganglioma were tested for SDH germline mutations. WT GISTs lacking demonstrable SDH genetic inactivation were evaluated for SDHB expression by immunohistochemistry and Western blotting and for complex II activity. For comparison, SDHB expression was also determined in KIT mutant and neurofibromatosis-1–associated GIST, and complex II activity was also measured in SDH-deficient paraganglioma and KIT mutant GIST; 4 of 34 patients (12%) with WT GIST without a personal or family history of paraganglioma had germline mutations in SDHB or SDHC. WT GISTs lacking somatic mutations or deletions in SDH subunits had either complete loss of or substantial reduction in SDHB protein expression, whereas most KIT mutant GISTs had strong SDHB expression. Complex II activity was substantially decreased in WT GISTs. WT GISTs, particularly those in younger patients, have defects in SDH mitochondrial complex II, and in a subset of these patients, GIST seems to arise from germline-inactivating SDH mutations. Testing for germline mutations in SDH is recommended in patients with WT GIST. These findings highlight a potential central role of SDH dysregulation in WT GIST oncogenesis.

2012 provisional classification criteria for polymyalgia rheumatica: a European League Against Rheumatism/American College of Rheumatology collaborative initiative

Abstract: The objective of this study was to develop EULAR/ACR classification criteria for polymyalgia rheumatica (PMR). Candidate criteria were evaluated in a 6-month prospective cohort study of 125 patients with new onset PMR and 169 non-PMR comparison subjects with conditions mimicking PMR. A scoring algorithm was developed based on morning stiffness >45 minutes (2 points), hip pain/limited range of motion (1 point), absence of RF and/or ACPA (2 points), and absence of peripheral joint pain (1 point). A score ≥4 had 68% sensitivity and 78% specificity for discriminating all comparison subjects from PMR. The specificity was higher (88%) for discriminating shoulder conditions from PMR and lower (65%) for discriminating RA from PMR. Adding ultrasound, a score ≥5 had increased sensitivity to 66% and specificity to 81%. According to these provisional classification criteria, patients ≥50 years old presenting with bilateral shoulder pain, not better explained by an alternative pathology, can be classified as having PMR in the presence of morning stiffness>45 minutes, elevated CRP and/or ESR and new hip pain. These criteria are not meant for diagnostic purposes.

Prechtl's Assessment of General Movements: A Diagnostic Tool for the Functional Assessment of the Young Nervous System.

Abstract: General movements (GMs) are part of the spontaneous movement repertoire and are present from early fetal life onwards until the end of the first half a year of life. GMs are complex, occur frequently, and last long enough to be observed properly. They involve the whole body in a variable sequence of arm, leg, neck, and trunk movements. They wax and wane in intensity, force and speed, and they have a gradual beginning and end. Rotations along the axis of the limbs and slight changes in the direction of movements make them fluent and elegant and create the impression of complexity and variability. If the nervous system is impaired, GMs loose their complex and variable character and become monotonous and poor. Two specific abnormal GM patterns reliably predict later cerebral palsy: 1) a persistent pattern of cramped-synchronized GMs. The movements appear rigid and lack the normal smooth and fluent character. Limb and trunk muscles contract and relax almost simultaneously. 2) The absence of GMs of fidgety character. So-called fidgety movements are small movements of moderate speed with variable acceleration of neck, trunk, and limbs in all directions. Normally, they are the predominant movement pattern in an awake infant at 3 to 5 months. Beside a sensitivity and specificity of 95% each, the assessment of GMs is quick, noninvasive, even nonintrusive, and cost-effective compared with other techniques, e.g., magnetic resonance imaging, brain ultrasound, and traditional neurological examination.

Adipose tissue, inflammation and cardiovascular disease

Abstract: Obesity has become a very frequent condition with important consequences for the health of affected individuals. Current evidence shows that the excess of adipose tissue as observed in obesity is responsible for secreting inflammatory mediators in a deregulated manner, thus inducing a chronic state of systemic low-grade inflammation that underlies the metabolic and cardiovascular outcomes in these populations. This article reviews the state of the art regarding mediators produced in the adipose tissue, their roles in the pathophysiology of obesity-associated insulin resistance and diabetes, and finally, tries to build a bridge between these mechanistically oriented insights and clinical practice.