[Laboratory diagnostics for early detection of rheumatic autoimmune diseases: a guide for the general practitioner]. / Labordiagnostik zur Früherkennung und Verlaufskontrolle von systemischen Autoimmunerkrankungen des rheumatischen Formenkreises in der allgemeinmedizinischen Praxis.

Autoimmune diseases are a clinically heterogeneous group of disorders that represent a challenge for the general practitioner in daily routine. Except for rheumatoid arthritis, which is one of the most frequent autoimmune diseases with a prevalence of approximately 1 % of the population, systemic autoimmune disorders are rare. Thus outside specialized wards it might be a challenge to diagnose the underlying autoimmune disease considering the often kaleidoscopic clinical manifestations. Together with careful anamnesis and suspicious clinical symptoms determination of specific autoantibodies can support the suspected diagnosis. The Austrian group of the European autoimmune standardization initiative (EASI) firstly published this guide 2009 with the aim to provide a map through the jungle of the biomarkers for autoimmune diseases for the general practitioner.

Novel PHEX mutation associated with hypophosphatemic rickets.

BACKGROUND: X-linked hypophosphatemia (XLH) is the most prevalent heritable form of rickets. It is a dominantly inherited disorder, characterized by renal phosphate wasting, abnormal vitamin D and PTH metabolism, and defective bone mineralization. Inactivating mutations in the gene encoding PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) have been found to be associated with XLH. METHODS: We report about a 54-year-old male patient who exhibited the typical features of XLH, and in whom mutational analysis using PCR and sequencing was performed. Additionally, extensive laboratory and radiological investigations were carried out. RESULTS: A 1-bp deletion in exon 2 of the PHEX gene was detected (177delC), which, to the best of our knowledge, has not been reported yet. This deletion results in a premature stop codon (C59X), suggesting a truncation of the PHEX protein. Furthermore, elevated FGF23 and PTH levels as well as an increased axial bone mineral density score were measured. CONCLUSIONS: We present a male patient with XLH, who harbors a novel mutation in the PHEX gene, which might be the cause for his disease. Our data support previous findings and therefore contribute to the decipherment of the pathogenetic pathways of XLH.

Vegetables and PUFA-rich plant oil reduce DNA strand breaks in individuals with type 2 diabetes.

SCOPE: Type 2 diabetes is a multifactorial disease associated with increased oxidative stress, which may lead to increased DNA damage. The aim of this study was to investigate the effect of a healthy diet on DNA oxidation in diabetics and nondiabetics. METHODS AND RESULTS: Seventy-six diabetic and 21 nondiabetic individuals participated in this study. All subjects received information about the benefits of a healthy diet, while subjects randomly assigned to the intervention group received additionally 300 g of vegetables and 25 mL PUFA-rich plant oil per day. DNA damage in mononuclear cells (Comet Assay), urinary excretion of 8-oxo-7-hydro-2'-deoxyguanosine (8-oxodG) and 8-oxo-7,8-dihydroguanosine (8-oxoGuo) and glycated hemoglobin (HbA1c) were measured at baseline, after 4, 8 (end of intervention), and 16 weeks. The intervention with vegetables and PUFA-rich oil led to a significant increase in plasma antioxidant concentrations. Diabetic individuals of the intervention group showed a significant reduction in HbA1c and DNA strand breaks. Levels of HbA1c were also improved in diabetics of the information group, but oxidative damage to DNA was not altered. Urinary 8-oxodG and 8-oxoGuo excretion remained unchanged in both groups. CONCLUSIONS: This study provides evidence that a healthy diet rich in antioxidants reduces levels of DNA strand breaks in diabetic individuals.