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A 34-year-old man of North African descent was referred to the emergency department because of malignant hypertension (220/113 mmHg), acute visual disturbances and acute kidney failure (serum creatinine 14.0 mg/dL). Blood analysis was compatible with thrombotic microangiopathy (TMA). Kidney biopsy confirmed this diagnosis with histological changes including intimal edema, arteriolar thrombi, and severe tubulointerstitial damage. Fundoscopy showed hypertensive retinopathy stage IV. Subsequent biochemical screening revealed normal complement testing and a marked elevation in homocysteine concentration (161 µmol/L; normal value 7-15 µmol/L). Other secondary causes of TMA were excluded. Further genetic testing for cobalamin C (cblC) deficiency showed no pathogenic mutations in the MMACHC gene. However, a homozygous c.665C>T polymorphism (NM_005957.4) in the methylenetetrahydrofolate reductase (MTHFR) gene was found explaining the severe hyperhomocysteinemia due to reduced activity of MTHFR. Additional genetic testing for alternative complement pathway proteins showed mutations in the genes encoding factor H and factor B, both categorized as possibly pathogenic using mutation prediction software. This is the first described case of TMA in a patient with severe hyperhomocysteinemia caused by a genetic defect other than cblC. We postulate that endothelial damage due to hyperhomocysteinemia and hypertension could have triggered the TMA episode in this patient with two possible predisposing pathogenic mutations in the alternative complement pathway. Furthermore, our case demonstrates the need for complete full diagnostic testing in patients with TMA. ispartof: ACTA CLINICA BELGICA vol:76 issue:1 pages:65-69 ispartof: location:England status: published

For the past decade TNO has been involved in the research and development of atmospheric pressure CVD (APCVD) and plasma enhanced CVD (PECVD) processes for deposition of transparent conductive oxides (TCO), such as tin oxide and zinc oxide. It is shown that by combining precursor development, fundamental gas phase and surface chemistry studies, process optimization and modeling-based reactor design, the demanding product requirements and cost issues of different types of thin film PV can be met. Our studies on the APCVD deposition of SnO2:F reveal the influence of different types of precursors and process conditions on the transmittance, morphology and conductance of the film. It is shown that a high transmittance (80%) and low resistivity (4.0·10-4Ω·cm) film can be obtained in combination with an intrinsic surface structure that enhances the light trapping effect. © 2009 Published by Elsevier Ltd.

Extracorporeal liver support therapies have been used for several decades as a bridging therapy prior to liver transplantation or as an addendum to standard medical therapy. The molecular adsorbent recycling system (MARS) represents a cell-free, extracorporeal, liver assistance method for the removal of both albumin-bound and water-soluble endogenous toxins. The aim of the present study was to evaluate the short-and long-term removal capacity and selectivity of the different inbuilt dialysers and adsorption columns (uncoated charcoal, anion exchanger resin). Levels of endogenous toxins and parameters of hepatic synthesis and necrosis were therefore monitored before, during, and after the MARS treatment phase in 10 patients. Moreover, blood and dialysate clearances of urea nitrogen, creatinine, bilirubin and bile acids were determined during a single treatment. The significant increasing time course of total bilirubin blood levels before the start of the treatment could be stopped and reversed in a significant decreasing time course (Linear Mixed Models, P

SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C A transversion, resulting in a pre-mature truncation of the protein, lacking the transactivation domain. Both living patients developed renal failure with severe hypertension in childhood for which both underwent renal transplantation. To our best knowledge this is the first report of renal failure associated with heterozygous mutations in the SOX18 gene. We conclude that this specific mutation results in a new, autosomal dominant condition and propose the acronym HLT-renal defect syndrome for HLTRS.

In this article, the deposition of TiN and Ti(C, N) in a relatively large scale reactor vessel is discussed. Tetrakis(diethylamine)titanium (TDEAT) was used for the deposition of TiN and Ti(C, N) at low temperatures. Favorable gas-phase conditions for deposition of Ti(C, N) in a pulsed direct current plasma have been determined, making use of mass and optical spectroscopy. Decomposition of TDEAT in a pure hydrogen plasma resulted in the favorable cleavage of diethylamine from the precursor but prevents the formation of Ti(C, N) due to the lack of nitrogen and carbon. Addition of N2 to the hydrogen plasma results in the formation of NHx (1⩽x⩽4), opening transamination pathways. Seemingly high quality Ti(C, N) coatings (Hv=1600) were deposited on WN 1.2370 tool steel.

Favourable gas-phase conditions for the deposition of Ti(C,N) in a large scale reactor vessel have been determined by a mass spectroscopic study of the activation of tetrakis(dimethylamino)titanium (TDMAT) and tetrakis(diethylamino)titanium (TDEAT) in a mixed H 2 -N 2 pulsed DC plasma. Activated hydrogen seemingly attacks the M-L bond. At least part of the ligands are stripped from the Ti atom. This prevents hydrocarbon incorporation in the coating. However, no nitrogen remains available for the formation of TiN. Addition of N 2 to a H 2 plasma seems to result in transamination. Transamination by NH (1≤x≤4) in a H 2 -N plasma appears to be a very attractive mechanism for cleavage of ligands and nitrogen supply at low temperatures. Deposition under preferred conditions produced bronze adherent coatings. The hardness varied between 1600 and 2300 kgf/mm 2 on stainless steel and tungsten carbide. The coatings are very ductile and might improve wear resistance of tools in non-lubricating forging processes.

The favourable gas-phase conditions for deposition of TiN have been determined by a mass-spectroscopic investigation of the gaseous species in an ambient of tetrakis(dimethyl-amino)titanium (TDMAT) molecules during pulsed d.c. plasma-enhanced deposition processes. The gas-phase composition was varied, at a pressure of 0.4 Torr, a temperature of 350 °C and a bias voltage of 500 V, based on an Ar, H 2 , N 2 ternary diagram. The results reveal that hydrogen plays a key role in the cleavage of –NMe 2 from the central Ti atom. The addition of N 2 to the hydrogen plasma opens up the possibility for transamination reactions by NH x formation (1 x 3 . This addition also leads to powder formation, which seems to reach a maximum within a 100% N 2 plasma. In a nitrogen plasma, only relatively small amounts of gaseous species, like HCN, NH 2 CN, and CH 3 CN, are detected, which indicates that residual hydrocarbon fragments of TDMAT must be incorporated into the powder and coating. Even small amounts of Ar addition to a hydrogen plasma convert TDMAT to powder particles, which is the opposite of the densification purpose of Ar bombarment. No gaseous species, apart from small amounts of HCN, are detected, suggesting hydrocarbon-containing coatings. If Ar:H 2 :N 2 =1:1:1, no specific mechanism is dominant under the conditions used here. Decreasing the deposition temperature and pressure and increasing the bias voltage seem to favour the cleavage of –NMe 2 ligands.

Thermally and plasma-enhanced chemical vapour deposition of tungsten oxide from W(CO) 6 precursor and of vanadium oxide from VO(O i Pr) 3 has been performed in a low pressure research reactor. Microstructural evaluation (X-ray diffraction and X-ray photoelectron spectroscopy) shows that fully oxidized layers can be obtained at high deposition rates under plasma-activated process conditions. Cyclic voltammetry indicates that, in principle, optical properties under ion intercalation are as desired for the production of electrochromic devices.

The Immunosuppression in Pancreas Transplantation was historically based on the fact that the pancreas is an extremely immunogenic organ. Quadruple drug therapy with polyclonal or monoclonal antibodies induction was the mainstay therapy since the introduction of Cyclosporine A.In the modern era of Immunosuppression, Mycophenolate Mofetil replaced Azathioprine while Tacrolimus-another potent calcineurin inhibitor-had-and still has-a difficult challenge to replaced Cyclosporine A, due to its potential diabetogenic effect. Thanks to the first two EuroSPK studies which prospectively tried to answer several questions in that field. But, the future challenge will be in understanding the impact of innate immunity and ischemic reperfusion injuries on the long term graft function. Hopefully, new drugs will be available and tested to block unspecific deleterious reactions to attenuate the proinflammatory response. It will be the aim of the third Euro SPK Study.

A low pressure 13.56 MHz radio frequency (rf) discharge is generated between two coaxial cylindrical electrodes, and is confined by two different types of magnetic field. A plasma electron temperature Te of typically a few electron volts is estimated from experimental spectroscopic data. Application of a homogeneous magnetic field appears to lower this Te by a few tenths of electron volts. Spatially resolved emission spectroscopy in an argon disharge shows that the magnetic confinement of plasma electrons leads to nonuniform emission intensities. The observed distributions can be related to ion density profiles, which have been measured with a Langmuir probe. It is shown that, at the low gas pressures considered here (several milliTorr), metastable states play an important role in the excitation and ionization mechanisms sustaining the discharge. Both experimental and theoretical arguments are presented to support this view. Actinometric measurement of the relative fluorine density in a magnetized CF4 dis...

High‐resolution energy distributions of ions, accelerated by the sheath at the powered electrode of a low‐pressure 13.56‐MHz gas discharge, have been measured. The observed spectra are compared to existing models. Excellent agreement between measured and calculated spectra is obtained. Detailed information on rf sheath behavior is derived from the observed energy profiles and from the measured total ion current densities towards the electrode surface. Analogous to the case of dc discharges, a decrease of sheath thickness is observed when a homogeneous variable magnetic field (0≤B≤315 G) is applied. However, the product of magnetic‐field strength B and sheath thickness d is found to be independent of sheath voltage. This leads to the conclusion that in rf discharges, sheath contraction under influence of a magnetic field proceeds by a different mechanism than in dc discharges. It is suggested that the value of the product Bd is determined by the (virtually constant) temperature of the plasma electrons, rat...

Background and aims Hepatocyte nuclear factor 1 beta (HNF1B) is involved in the development of kidneys, liver, pancreas and urogenital tract. Disorders have an extremely high heterogeneity in phenotype. We aim to define accurate criteria for screening in a prospective cohort of patients. Methods Based on the phenotypic characteristics described in literature, we defined major, minor and extra-renal selection criteria. Major criteria were defined as fetal bilateral hyperechogenic kidneys; multicystic dysplastic kidney or renal agenesis; hypoplastic or dysplastic kidneys or cysts from unknown origin. Minor criteria were defined as ectopic kidney; vesico-ureteral reflux; hydronephrosis and extrarenal criteria as diabetes; hypomagnesemia; hyperuricemia; hypokalemia; liver function abnormalities or positive familial history. We included all patients from our paediatric and adult nephrology department from January 2010 till April 2013 presenting with at least one major or one minor criterion with extra-renal manifestations in the personal or familial history. Results We screened a prospective cohort of 252 patients fitting the criteria mentioned above and detected HNF1B mutations in 10% (n = 20), with a complete deletion being the most common (n = 10), besides duplication or sequence abnormalities. In our cohort the best predictors for finding HNF1B mutations were bilateral renal abnormalities (p Conclusions Based on a prospective single centre cohort, we demonstrated that HNF1B-mutations are responsible for approximately 10% of CAKUT cases. Nonetheless, bilateral renal anomalies or cysts from unknown origin were the best predictors. These criteria might be useful for a more restricted screening protocol, but should be reaffirmed in a larger multicenter cohort.

Successful kidney transplantation (KT) is believed to cure secondary hyperparathyroidism, but persistent disease has emerged in a significant number of allograft recipients. Parathyroidectomy (PTX) is ultimately required in some of these patients.To provide an in-depth analysis of 42 patients who required surgical treatment for persistent hyperparathyroidism after successful renal transplantation and to identify risk factors for PTX present at the time of transplantation.Retrospective case controlled study.Charts of 1332 kidney allograft recipients, transplanted between 1989 and 2000, were reviewed. Patients requiring a PTX after a first successful kidney transplantation (serum creatinine2.5 mg/dl) were identified. Their charts were checked for various demographic, clinical and biochemical variables. The data were compared with data obtained from a control group closely matched for time of transplantation.Persistent hyperparathyroidism after successful KT requiring PTX occurred in 55 (4.1%) patients. Because of insufficient follow-up data only 42 recipients were eligible for further analysis. The age of the patients was 52 +/- 2.1 years (mean +/- SEM). The time between transplantation and PTX was 416 +/- 61 days. The mean serum creatinine at the time of PTX amounted to 1.6 +/- 0.1 mg/dl. Persistent hypercalcemia, albeit asymptomatic in most patients, was the main indication for PTX. Enlarged parathyroid glands were visualised by ultrasonography in 74% of the cases. Subtotal parathyroidectomy was the procedure of choice. The operative morbidity was negligible and the incidence of persistent or recurrent hyperparathyroidism was low, being 15%. In comparison to the control group, the patients with persistent hyperparathyroidism had a significant longer duration of pre-transplantation dialysis treatment (36.3 vs. 23.0 months, p0.01) and significant higher values of intact parathyroid hormone (iPTH) (268.1 vs. 96.0 ng/l, p0.001), total serum calcium (10.6 vs. 9.4 mg/dl, p0.001), and serum alkaline phosphatases (185.5 vs. 132.0 U/L, p0.001) at the time of transplantation. No relationship with the mode of dialysis treatment was observed.Persistent hyperparathyroidism requiring PTX after successful KT is a common clinical problem. Patients who spent a long time on dialysis and/or patients with a high pre-transplant level of iPTH, serum calcium and alkaline phosphatases are especially at risk.

A new method for low temperature deposition of surface textured ZnO:Al is presented utilizing an expanding thermal plasma created by a cascaded arc. Films are deposited at 200 degrees C at the rate of 0.65-0.75 nm s/sup -1/ exhibiting low resistivity (10/sup -3/ ncm), high visible transmittance (>80%) and a rough surface texture. First application in p-i-n a-Si:H solar cells indicates promising light trapping properties

The average axon diameter in the proximal segment of a transected and reconstructed peripheral nerve will decrease shortly after the transection and increase again when the regenerating axons make contact with their targets. The magnetically recorded nerve compound action current (NCAC) amplitude and the conduction velocity (CV) are directly related to the axon diameters. In this experiment, the peroneal nerve was unilaterally transected and reconstructed in 42 rabbits. After 3, 4.5, 6, 8, 12, 20, and 36 weeks of regeneration time, hind leg motor function recovery, NCAC amplitude, and CV(1st peak) were studied. Our results demonstrate a significant decrease in signal amplitude and CV in the first 8 weeks after reconstruction. These decreases are related (P0.05). After 8 weeks of regeneration time, motor function and the CV of the recorded signals start to recover, but the signal amplitudes do not. Based on the correlation of the CV and signal amplitude with axon diameter, they would both be expected to increase with recovering function. As an explanation for this lack of increase of signal amplitude, we suggest that, at the same time as some axons reach their target organs and start to mature, a number of the axons which have not reached a proper target organ will lose their signal-conducting capability. This will cause a decrease in compound signal amplitude, which cancels out the expected increase in NCAC amplitude, due to axonal maturation.

Favourable gas-phase conditions for deposition of Ti(C,N) from tetrakis(dimethylamine)titanium (TDMAT) in a pulsed DC-plasma have been determined, making use of mass spectroscopy. Decomposition of TDMAT in a pure hydrogen plasma results in the favourable cleavage of dimethylamine from TDMAT but prevents the formation of Ti(C,N) due to the lack of nitrogen and carbon. Addition of N2 to the hydrogen plasma results in the formation of NHx (l2 interactions. The depletion of TDMAT by interaction with nitrogen in a H2(85%) - N2(15%) plasma proceeds in a mechnistic step with a rate constant of k = 4.7 × 10−14 cm3 mol−1sec. Results were compared with those obtained from using ammonia under similar process conditions, and with results from thermal CVD. Seemingly high quality Ti(C,N) coatings were deposited at temperatures between 200°C and 425°C on steel and glass with this simple and, therefore, interesting set-up.

Histologic techniques can quantify the number of axons in a nerve, but give no information about electrical conductibility. The number of functional myelinated neuronal units in a nerve can be quantified based on a magnetic recording technique. When studying reconstructed peripheral nerves a significant difference between the results found with these two techniques can be observed. A comparison was made between the long-term changes in the number of histologically and magnetoneurophysiologically measured neuronal units proximal to a nerve reconstruction. This study was performed on 6 New Zealand White rabbits, 20 weeks after the peroneal nerve had been reconstructed. The contralateral nerves were used as a control. Histologic examination demonstrates a statistically significant decrease of approximately 5% in the number of myelinated fibers. The magnetoneurophysiological results demonstrate a decrease which is estimated to be caused by the loss of approximately 50% of the functional myelinated neuronal units in the nerve. Therefore we conclude that of the initially available myelinated neuronal units, 5% degenerate completely, 45% are vital but lose their signal conducting capability, and the remaining 50% are vital and continue to conduct signals. Apparently, only this latter group of 50% of the initially available functional neuronal units appears to remain available for functional recovery.

Motor and sensory function in a healthy nerve is strongly related to the number of neuronal units connecting to the distal target organs. In the regenerating nerve the amplitudes of magnetically recorded nerve compound action currents (NCACs) seem to relate to the number of functional neuronal units with larger diameters regenerating across the lesion. The goal of this experiment was to compare the signal amplitudes recorded from the distal segment of a reconstructed nerve to functional recovery. To this end, the peroneal nerves of 30 rabbits were unilaterally transected and reconstructed. After 6, 8, 12, 20, and 36 weeks of regeneration time the functional recovery was studied based on the toe-spread test, and the nerve regeneration based on the magnetically recorded NCACs. The results demonstrate that the signal amplitudes recorded magnetically from the reconstructed nerves increase in the first 12 weeks from 0% to 21% of the amplitudes recorded from the control nerves and from 21% to 25% in the following 23 weeks. The functional recovery increases from absent to good between the 8th and the 20th week after the reconstruction. A statistically significant relation was demonstrated between the signal amplitude and the functional recovery (P0.001). It is concluded that the magnetic recording technique can be used to evaluate the quality of a peripheral nerve reconstruction and seems to be able to predict, shortly after the reconstruction, the eventual functional recovery.

A review is presented describing the development of TiN-CVD from the classical, high temperature TiCl 4 /N 2 process, towards low temperature MOCVD processes. This development is presented from a chemical point of view. In addition to low pressure (LPCVD) and atmospheric pressure (APCVD) thermal processing, also plasma enhanced (PECVD) techniques are described. In the past few years production facilities for good quality TiN layers for wear resistant applications have come on the market. Production facilities for IC-technology applications of CVD-TiN are on the edge of breaking through. For both applications deposition temperatures have been reduced to 500-600°C. Research developments, have shown even lower deposition temperatures possible for TiN and Ti(C,N) layers.

lidomide orally, daily at dose of 5mg daily for 56 days followed by individual titration up in 5mg increments every 28 days to reach a maximum dose of 25mg daily based on patient tolerance. All pts received full supportive care, including transfusions of blood and blood products, antibiotics, and anti-emetics when appropriate. Use of filgrastim (G-CSF) and erythropoietin to treat for neutropenia and anemia, respectively, was permitted while on study. Allopurinol 300 mg daily was prescribed from day 1 to 14 as tumor lysis syndrome prophylaxis. Results: Out of 60 total pts, 17 (28%) were identified as long-term responders (TTF greater than or equal to 24 months) and were included in this analysis. Of the 17 long-term responder pts, median age was 72 years. Eight pts (47%) were female. Four had (24%) Rai stage 3 or 4 disease. Medians: hemoglobin 12.6 g/dL, platelet 154 K/uL, WBC 55.6 K/uL, absolute lymphocyte count 40.5 K/uL. Beta-2 microglobulin was 4.2 mg/L. Eleven pts (65%) expressed ZAP-70, and 12/16 (75%) had unmutated IGHV. Fluorescence in-situ hybridization (FISH) was as follows: 13q del (6 pts), trisomy 12 (5 pts), 11q del (4 pts) and no abnormalities (2 pts). The median dose of lenalidomide was 5 mg oral daily dose. Documented best responses to therapy were: CR (2 pts), CRi (1 pt), NPR (2pts), PR (12 pts). The median TTF was 26 months. To date, all these long-term responders are alive, 15 patients are continuing on therapy and 2 pts have discontinued treatment (1 pt who had achieved NPR was taken off secondary to the diagnosis of non-melanomatous skin cancer and 1 pt who had achieved PR taken off study secondary to venous thrombo-embolism). Conclusion: Lenalidomide induces lasting responses in pts with CLL. With continuation of therapy, these responses can be maintained for more than 2 years in 28% of the pts. Further studies are warranted on this sub-group of pts with emphasis on pt-related clinical and biological characteristics of these long-term responders.

High resolution energy spectra of ions, accelerated across the sheath at the powered electrode of an rf gas discharge, are presented. The measured profiles are explained by a simple model. Ion energy, ion mass, total ion flux and time averaged sheath thickness are thus obtained. In the presence of a magnetic field fast electrons modify the sheath, resulting in an increased ion flux and a decreased sheath thickness.

Ion energy measurements have been performed with an electrostatic parallel plate energy analyzer at the powered electrode of a 13.56–MHz rf discharge. Considerable splitting of the ion energy distributions is observed due to rf oscillations. Plasma potential, sheath thickness, and total ion current are derived from the observed energy profiles. Low‐pressure operation of the plasma at several mTorr permits a collisionless sheath approximation and gives rise to well‐defined energy spectra.