Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the

OBJECTIVES: To evaluate an objective and quantitative method for assessment of capillary abnormalities in systemic sclerosis (SSc).METHODS: Nailfold capillaries were investigated by capillary microscopy and photographed in 17 consecutive SSc patients (five with diffuse cutaneous systemic sclerosis (dSSc) and 12 with limited cutaneous systemic sclerosis (lSSc)) and in 17 healthy controls. Investiga

Lead(II) acetate [Pb(Ac)2, where Ac = acetate group (CH3-COO-)2] is a very common salt with many and varied uses throughout history. However, only lead(II) acetate trihydrate [Pb(Ac)2·3H2O] has been characterized to date. In this paper, two enantiotropic polymorphs of the anhydrous salt, a novel hydrate [lead(II) acetate hemihydrate: Pb(Ac)2·1/2H2O], and two decomposition products [corresponding t

BACKGROUND: Oesophageal perforation is a rare but life-threatening condition with a significant morbidity and mortality. In this retrospective, nationwide study, the results of oesophageal perforation are reported for a well defined cohort, with special emphasis on the incidence, aetiology and results of surgical treatment.MATERIAL AND METHODS: 29 consecutive patients (16 males) were diagnosed wit

I följande rapport redovisar vi resultatet från en utvärdering av datahanteringsplaner genomförd under 2016. Rapporten har följande disposition: bakgrund kring begreppet datahanteringsplaner, syfte och mål, avgränsningar, intressentanalys, risker, metod, resultat från forskarnas utvärdering, resultat från enkät till forskningsfinansiärer och slutligen en sammanfattning och rekommendation.

In this study the wet adhesion between Layer-by-Layer (LbL) assembled films of triblock copolymer micelles was investigated. Through the LbL assembly of triblock copolymer micelles with hydrophobic, low glass transition temperature (Tg) middle blocks and ionic outer blocks, a network of energy dissipating polymer chains with electrostatic interactions serving as crosslinks can be built. Four tribl

In the course of my PhD work, I have been involved in the development and the construction of the Tagging System for the BGO-OD experiment at the ELSA accelerators of the University of Bonn.BGO-OD is a fixed target experiment for the investigation of the structure of the nucleon at low energies via the photoproduction of mesons. It consist of a central calorimeter and a forward spectrometer. The r

Side localization of parathyroid adenomas was performed by venous sampling for intact parathyroid hormone (PTH) in 20 consecutive patients with primary hyperparathyroidism (pHPT) after induction of anesthesia. The results were thus available during surgery. Nineteen of the patients had solitary parathyroid adenoma, and one had hyperplasia. There was no complication to the procedure. A lateralizing

Episodes of transient thyrotoxicosis after surgery for primary hyperparathyroidism have previously been described, and surgical trauma to the thyroid gland has been suggested as an etiologic factor. However, there are several links between the thyroid and parathyroid hormonal systems, and therefore other explanations are possible as well. In this study we investigate pre- and postoperative serum l

The secretion of intact parathyroid hormone (PTH) was investigated in 11 patients operated on for parathyroid adenoma at 1 year after surgery and compared with that of seven healthy individuals and five patients operated on because of clinical and biochemical signs of primary hyperparathyroidism with equivocal diagnosis after surgery. The investigation was performed by infusing Na2EDTA and CaCl2 a

The introductory and closing speeches during a conference dedicated to the legacy of the 1915 Genocide, its denial by the Turkish State.

The main purpose of this study was to compare two non-invasive optical spectroscopic techniques for assessing peripheral oxygenation saturation in healthy volunteers under specific provocations. The results suggest that the time-resolved technique provides more accurate and robust results.

Hypoxia is a hallmark of solid tumors, which may offer opportunities for targeted therapies of cancer; however, the mechanisms that link hypoxia to malignant transformation and tumor progression are not fully understood. Here, we show that up-regulation of the polyamine system promotes cancer cell survival during hypoxic stress. Hypoxia was found to induce polyamine transport and the key enzyme of

Parnetti L, Chiasserini D, Andreasson U, Ohlson M, Hüls C, Zetterberg H, Minthon L, Wallin ÅK, Andreasen N, Talesa VN, Blennow K. Changes in CSF acetyl- and butyrylcholinesterase activity after long-term treatment with AChE inhibitors in Alzheimer's disease.Acta Neurol Scand: DOI: 10.1111/j.1600-0404.2010.01435.x. © 2010 John Wiley & Sons A/S. Objectives - To measure cerebrospinal fluid (CSF)

The Lake Poopo basin, located on the Bolivian Altiplano, is extremely vulnerable to environmental degradation. The basin displays extreme spatial and temporal variations of water resources and rapidly decreasing water quality due to anthropogenic and natural pollution. The region’s population lives in extreme poverty, and the authorities’ efforts to manage the water resources efficiently have been