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Genomics, 1997
Ç50% of affected individuals are diagnosed in the Autosomal recessive polycystic kidney disease i... more Ç50% of affected individuals are diagnosed in the Autosomal recessive polycystic kidney disease is perinatal period and die shortly after birth. Abnorone of the most common hereditary renal cystic dismalities in renal and biliary tubuloepithelial differeases in children. Genetic studies have recently asentiation have been proposed to explain the pathosigned the only known locus for this disorder, PKHD1, genesis of this disorder, but the primary biochemical to chromosome 6p21-p12. We have generated a YAC defect underlying ARPKD has not been determined. contig that spans Ç5 cM of this region, defined by the We have employed a positional cloning approach to markers D6S1253 -D6S295, and have mapped 43 sedefine the genetic defect responsible for this disease.
Biochemical Pharmacology, 2003
Tocopherols and tocotrienols are metabolized by side chain degradation via initial omega-oxidatio... more Tocopherols and tocotrienols are metabolized by side chain degradation via initial omega-oxidation and subsequent beta-oxidation. omega-Oxidation is performed by cytochrome P450 (CYP) enzymes which are often regulated by their substrates themselves. Results presented here show that all forms of Vitamin E are able to activate gene expression via the pregnane X receptor (PXR), a nuclear receptor regulating a variety of drug metabolizing enzymes. In HepG2 cells transfected with the human PXR and the chloramphenicol acetyl transferase (CAT) gene linked to two PXR responsive elements, CAT activity was most strongly induced by alpha- and gamma-tocotrienol followed by rifampicin, delta-, alpha- and gamma-tocopherol. The inductive efficacy was concentration-dependent; its specificity was underscored by a lower response when cotransfection with PXR was omitted. Up-regulation of endogenous CYP3A4 and CYP3A5 mRNA was obtained by gamma-tocotrienol, the most potent activator of PXR, with the same efficacy as with rifampicin. This points to a potential interference of individual forms of Vitamin E with the metabolism and efficacy of drugs.
Patients with heart failure and sinus rhythm undergoing cardiac resynchronization therapy (CRT) r... more Patients with heart failure and sinus rhythm undergoing cardiac resynchronization therapy (CRT) require the proper detection of atrial signals and reliable atrial pacing for AV-synchronous ventricular pacing. The study aim was to compare atrial pacing and sensing characteristics in patients with transvenous CRT and patients with standard pacing indications. The study group consisted of 31 heart failure patients with depressed left ventricular function and bundle branch block, and the control group of 124 patients with dual-chamber pacemakers because of standard pacing indications. The bipolar steroid-eluting atrial screw-in lead Tendril DX 1388 T (St. Jude Medical) was implanted and connected to pulse generators that provide similar diagnostic features. The unipolar pacing threshold at 0.4 ms duration, bipolar sensing threshold, and unipolar pacing impedance were determined at implantation and after 1, 3, and 6 months. At implantation, the atrial pacing threshold was significantly higher in the CRT group than in the control group, 1.07+/-0.99 V versus 0.74+/-0.36 V (P<0.01). Similar pacing thresholds were recorded after 1 month. The pacing threshold in the CRT group was significantly higher at 1.46+/-0.92 V after 3 and 1.50+/-0.94 V after 6 months (control group: 0.96+/-0.25 V at month 3; 0.98+/-0.32 V at month 6; P<0.05). Sensing threshold was similar at implantation with 2.36+/-1.87 mV in the CRT and 2.54+/-0.78 mV in the control group. The sensing threshold in the CRT group decreased to 1.64+/-0.8 6mV after 3 and to 1.71+/-0.71 mV after 6 months and was significantly lower compared with the control group (2.16+/-0.57 mV at month 3; 2.27+/-0.9 8mV at month 6; P<0.05). At implant, the atrial pacing impedance was not different between the two groups with 443+/-156 ohms in the CRT and 416+/-116 ohms in the control group. During follow-up, the impedance became significantly lower in the CRT group compared with the control group (404+/-84 ohms versus 452+/-101 ohms at month 3; P<0.05). Compared with patients with standard pacing indications, CRT recipients have less good electrical characteristics in the atrium. Atrial pacing and sensing function should be closely monitored in CRT patients.
Genomics, 1997
Ç50% of affected individuals are diagnosed in the Autosomal recessive polycystic kidney disease i... more Ç50% of affected individuals are diagnosed in the Autosomal recessive polycystic kidney disease is perinatal period and die shortly after birth. Abnorone of the most common hereditary renal cystic dismalities in renal and biliary tubuloepithelial differeases in children. Genetic studies have recently asentiation have been proposed to explain the pathosigned the only known locus for this disorder, PKHD1, genesis of this disorder, but the primary biochemical to chromosome 6p21-p12. We have generated a YAC defect underlying ARPKD has not been determined. contig that spans Ç5 cM of this region, defined by the We have employed a positional cloning approach to markers D6S1253 -D6S295, and have mapped 43 sedefine the genetic defect responsible for this disease.
Biochemical Pharmacology, 2003
Tocopherols and tocotrienols are metabolized by side chain degradation via initial omega-oxidatio... more Tocopherols and tocotrienols are metabolized by side chain degradation via initial omega-oxidation and subsequent beta-oxidation. omega-Oxidation is performed by cytochrome P450 (CYP) enzymes which are often regulated by their substrates themselves. Results presented here show that all forms of Vitamin E are able to activate gene expression via the pregnane X receptor (PXR), a nuclear receptor regulating a variety of drug metabolizing enzymes. In HepG2 cells transfected with the human PXR and the chloramphenicol acetyl transferase (CAT) gene linked to two PXR responsive elements, CAT activity was most strongly induced by alpha- and gamma-tocotrienol followed by rifampicin, delta-, alpha- and gamma-tocopherol. The inductive efficacy was concentration-dependent; its specificity was underscored by a lower response when cotransfection with PXR was omitted. Up-regulation of endogenous CYP3A4 and CYP3A5 mRNA was obtained by gamma-tocotrienol, the most potent activator of PXR, with the same efficacy as with rifampicin. This points to a potential interference of individual forms of Vitamin E with the metabolism and efficacy of drugs.
Patients with heart failure and sinus rhythm undergoing cardiac resynchronization therapy (CRT) r... more Patients with heart failure and sinus rhythm undergoing cardiac resynchronization therapy (CRT) require the proper detection of atrial signals and reliable atrial pacing for AV-synchronous ventricular pacing. The study aim was to compare atrial pacing and sensing characteristics in patients with transvenous CRT and patients with standard pacing indications. The study group consisted of 31 heart failure patients with depressed left ventricular function and bundle branch block, and the control group of 124 patients with dual-chamber pacemakers because of standard pacing indications. The bipolar steroid-eluting atrial screw-in lead Tendril DX 1388 T (St. Jude Medical) was implanted and connected to pulse generators that provide similar diagnostic features. The unipolar pacing threshold at 0.4 ms duration, bipolar sensing threshold, and unipolar pacing impedance were determined at implantation and after 1, 3, and 6 months. At implantation, the atrial pacing threshold was significantly higher in the CRT group than in the control group, 1.07+/-0.99 V versus 0.74+/-0.36 V (P<0.01). Similar pacing thresholds were recorded after 1 month. The pacing threshold in the CRT group was significantly higher at 1.46+/-0.92 V after 3 and 1.50+/-0.94 V after 6 months (control group: 0.96+/-0.25 V at month 3; 0.98+/-0.32 V at month 6; P<0.05). Sensing threshold was similar at implantation with 2.36+/-1.87 mV in the CRT and 2.54+/-0.78 mV in the control group. The sensing threshold in the CRT group decreased to 1.64+/-0.8 6mV after 3 and to 1.71+/-0.71 mV after 6 months and was significantly lower compared with the control group (2.16+/-0.57 mV at month 3; 2.27+/-0.9 8mV at month 6; P<0.05). At implant, the atrial pacing impedance was not different between the two groups with 443+/-156 ohms in the CRT and 416+/-116 ohms in the control group. During follow-up, the impedance became significantly lower in the CRT group compared with the control group (404+/-84 ohms versus 452+/-101 ohms at month 3; P<0.05). Compared with patients with standard pacing indications, CRT recipients have less good electrical characteristics in the atrium. Atrial pacing and sensing function should be closely monitored in CRT patients.