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H Thiele

Publications and source records attributed to H Thiele.

At least 19 recordsLinked to original sources
PubMed2006

[Peri-interventional risk in 1,384 cardiac catheterizations in patients aged 80 years or older].

BACKGROUND AND OBJECTIVE: Because of the rising life expectancy in the industrialized countries, ever more cardiac catheterizations are performed in patients aged 80 years or older. Little is known about the incidence of peri-interventional events in this age group. PATIENTS AND METHODS: Between January 1996 and September 2000, a total of 1,085 patients of that age (mean 82.6 +/- 2.6 years) underwent cardiac catheterization and intervention (3% of a total of 43,517 cardiac catheterizations). RESULTS: 827 patients (77%) had significant coronary artery stenoses. 373 of them (45%) were treated with balloon angioplasty, with or without stenting, and 331 (40%) underwent aortocoronary bypass procedures. 31 patients died while in hospital, 17 of them having been in cardiogenic shock on admission. Peri-interventional events, including damage to artery at the site of catheter entry occurred in 2.1% of patients undergoing diagnostic cardiac catheterization and in 11.6% in connection with a percutaneous interventional procedure. CONCLUSION: Both cardiac catheterization and interventional procedures can be done with a justifiable risk in patients aged 80 years or older. These cardiac investigations/interventions should not be withheld in this group of patients for reasons of age.

Age Factors↗
PubMed2006

A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs.

Three groups have previously performed genome scans in attention-deficit/hyperactivity disorder (ADHD); linkage to chromosome 5p13 was detected in all of the respective studies. In the current study, we performed a whole-genome scan with 102 German families with two or more offspring who currently fulfilled the diagnostic criteria for ADHD. Including subsequent fine mapping on chromosome 5p, a total of 523 markers were genotyped. The highest nonparametric multipoint LOD score of 2.59 (empirical genome-wide significance 0.1) was obtained for chromosome 5p at 17 cM (according to the Marshfield map). Subsequent analyses revealed (a) a higher LOD score of 3.37 at 39 cM for a quantitative severity score based on symptoms of inattention than for hyperactivity/impulsivity (LOD score of 1.11 at 59 cM), and (b) an HLOD of 4.75 (empirical genome-wide significance 0.001) based on a parametric model assuming dominant inheritance. The locus of the solute carrier 6A3 (SLC6A3; dopamine transporter 1; DAT1) localizes to 5p15.33; the gene has repeatedly been implicated in the etiology of ADHD. However, in our sample the DAT1 VNTR did not show association with ADHD. We additionally identified nominal evidence for linkage to chromosomes 6q, 7p, 9q, 11 q, 12q and 17p, which had also been identified in previous scans. Despite differences in ethnicity, ascertainment and phenotyping schemes, linkage results in ADHD appear remarkably consistent.

Adolescent↗
PubMed2004

[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].

BACKGROUND: Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-thirds of all cases being nonsyndromic. Only two loci (DFNA1 and DFNA6/14/38) are associated with low frequency sensorineural nonsyndromic hearing impairment. DFNA6 was mapped to chromosome 4p16. Recessive mutations in the WFS1 gene are responsible for Wolfram syndrome; missense mutations inherited as an autosomal dominant result in low frequency sensorineural hearing impairment (LFSNHI). PATIENTS AND METHODS: In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons. RESULTS AND CONCLUSION: In general, these patients show a postlingual, sensorineural, bilateral, symmetric, nonsyndromic low frequency hearing impairment with a slow progression. This impairment is accompanied by normal vision and normal vestibular responses.

Adolescent↗
PubMed2003

Regular physical activity improves endothelial function in patients with coronary artery disease by increasing phosphorylation of endothelial nitric oxide synthase.

BACKGROUND: In stable coronary artery disease (CAD), exercise training has well-documented positive effects on arterial endothelial function. NO derived from endothelial NO synthase (eNOS) is regarded as a protective factor against atherosclerosis. The aim of the present study was to investigate the effects of exercise training on the endothelial function in relation to the expression of eNOS and Akt-dependent eNOS phosphorylation in the left internal mammary artery (LIMA) of patients with stable CAD. METHODS AND RESULTS: In 17 training patients (T) and 18 control patients (C), endothelium-dependent vasodilation and average peak flow velocity (APV) in response to acetylcholine were measured invasively at study beginning and after 4 weeks in the LIMA. In LIMA tissue sampled during bypass surgery, eNOS expression and content of pospho-eNOS-Ser1177, Akt, and phospho-Akt were determined by Western blot and quantitative reverse transcriptase-polymerase chain reaction. After exercise training, LIMA APV in response to acetylcholine was increased by 56+/-8% (from +48+/-8% at beginning to +104+/-11% after 4 weeks, P<0.001). Patients in T had a 2-fold higher eNOS protein expression (T 1.0+/-0.7 versus C 0.5+/-0.3 arbitrary units, P<0.05) and 4-fold higher eNOS Ser1177-phosphorylation levels in LIMA-endothelium (1.2+/-0.9 versus 0.3+/-0.2 arbitrary units, P<0.01). A linear correlation was confirmed between Akt phosphorylation and phospho-eNOS levels (R=0.80, P<0.05) and between phospho-eNOS and Delta APV (R=0.59, P<0.05). CONCLUSIONS: Exercise training in stable CAD leads to an improved agonist-mediated endothelium-dependent vasodilatory capacity. The change in acetylcholine-induced vasodilatation was closely related to a shear stress-induced/Akt-dependent phosphorylation of eNOS on Ser1177.

Acetylcholine↗
PubMed2003

[Sudden cardiac death in a case of systemic sarcoidosis].

CLINICAL PRESENTATION: A 55-year-old woman required emergency medical care because of sudden weakness. On arrival of the emergency physician the patient presented with bradycardia with a normal rhythm. The blood pressure was not measurable. The patient complained of recurrent dizziness for a few months. Subsequently, the patient presented with an asystole and required reanimation and insertion of a temporary cardiac pacemaker. On admission at the hospital myocardial infarction was suspected. CLINICAL AND LABORATORY TESTS: At the time of admission the patient presented in cardiogenic shock. The ECG revealed a 3rd atrioventricular block with idioventricular rhythm. Echocardiography showed reduced left ventricular function with global hypokinesia of the myocardium. Coronary artery disease was excluded by angiography. To exclude acute pulmonary embolism a CT-scan of the thorax was performed, revealing enlarged lymph nodes in the mediastinum. TREATMENT AND RESPONSE TO THERAPY: Despite the administration of high-dose catecholamines and before a left atrial-to-femoral arterial assist device could be completely implanted the patient died of cardiogenic shock. AUTOPSY: Autopsy revealed non-caseating epitheloid granulomas in the enlarged mediastinal lymph nodes as well as in the lung parenchyma, myocardium and several other organs. CONCLUSION: The cardiac involvement of previously undiagnosed systemic sarcoidosis was the cause of sudden death. In case of ECG changes of unknown cause in persons without a history of structural cardiac disease sarcoidosis should be considered in the differential diagnosis.

Cardiomyopathies↗
PubMed2003

Improved functional cardiac MR imaging using the intravascular contrast agent CLARISCAN.

PURPOSE: Using segmented k-space turbo gradient echo MR techniques (TGE) contrast between blood and myocardium is often reduced in long axis views due to reduced in plane spin-refreshment, particularly in patients with low ejection fraction. The application of an intravascular contrast agent (CA) may improve endocardial border delineation. MATERIALS AND METHODS: In 15 patients cardiac cine loops in two long axis and two short axis views were acquired during breath hold using a TGE sequence without and with increasing doses of CA (0.75, 2.0, 5.0 mg Fe/kg). Two independent observers evaluated left ventricular function (LVEF, modified Simpson's rule) and assigned a visual score (range: 0 = 'not visualized' to 6 = 'excellent visualization') for endocardial border delineation. Signal- and contrast-to-noise ratios (SNR; CNR) were determined. RESULTS: Endocardial border delineation score for TGE was 1.7 +/- 0.6 and 3.9 +/- 0.6**, 4.4 +/- 0.5**, 4.6 +/- 0.4** for 0.75, 2.0, 5.0 mg Fe/kg of CA, respectively (**p < 0.01 vs. TGE). SNR of blood increased significantly with any dose of CA with a mild drop of myocardial SNR resulting in a significant increase of CNR blood/myocardium. The maximum effect with 2.0 mg Fe/kg was a >2-fold CNR increase. Inter- and intraobserver variability assessed according to the method of Bland-Altmann was reduced at 2.0 mg Fe/kg for determination of LVEF and reached statistical significance for LVEF <50%. CONCLUSION: Intravascular CA increased CNR between blood and myocardium by a factor >2 and significantly improved the determination of cardiac volumes. The benefit in accuracy was most for patients with left ventricular ejection fraction <50%.

Aged↗
PubMed2001

Reversal of cardiogenic shock by percutaneous left atrial-to-femoral arterial bypass assistance.

BACKGROUND: Recovery of myocardial function after revascularization of acutely occluded coronary arteries may require several days. During this critical time, patients in cardiogenic shock may have low output. A newly developed percutaneous left ventricular assist device (VAD) may offer effective treatment for these patients by providing active circulatory support. METHODS AND RESULTS: Between May 2000 and May 2001, VADs were implanted in 18 consecutive patients who had cardiogenic shock after myocardial infarction. The device was connected to the patient's circulation by insertion of a 21F venous cannula into the left atrium by transseptal puncture; blood was returned to the iliac artery through an arterial cannula. Mean duration of cardiac assistance was 4+/-3 days. Mean flow of the VAD was 3.2+/-0.6 L/min. Before support, cardiac index was 1.7+/-0.3 L/min per m(2) and improved to 2.4+/-0.6 L/min per m(2) (P<0.001). Mean blood pressure increased from 63+/-8 mm Hg to 80+/-9 mm Hg (P<0.001). Pulmonary capillary wedge pressure, central venous pressure, and pulmonary artery pressure were reduced from 21+/-4, 13+/-4, and 31+/-8 mm Hg to 14+/-4, 9+/-3, and 23+/-6 mm Hg (all P<0.001), respectively. Overall 30-day mortality rate was 44%. CONCLUSIONS: A newly developed VAD can be rapidly deployed in the catheterization laboratory setting. This device provides up to 4.0 L/min of assisted cardiac output, which may aid to revert cardiogenic shock. The left ventricle is unloaded by diverting blood from the left atrium to the systemic circulation, making recovery more likely after an ischemic event. The influence of this device on long-term prognosis warrants further investigation.

Adult↗
PubMed2001

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.

Abnormalities, Multiple↗
PubMed2001

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.

Although clinical features in Kabuki syndrome (KS; Niikawa-Kuroki syndrome) have been well defined, the underlying genetic mechanism still remains unclear. We report a 9-year-old girl with typical KS-like facial appearance, skeletal and dermatoglyphic abnormalities, severe mental retardation, and growth deficiency. In 60 of 100 GTG-banded metaphases from peripheral blood lymphocytes, a ring chromosome smaller than a G group chromosome was found, which, according to reverse painting, consisted of Xq11.1q13. The proband's karyotype was described as mos45,X/46,X,+r(X). Several loci were analyzed with fluorescence in situ hybridization (FISH) and microsatellite markers revealing that one r(X) breakpoint mapped proximal to DXS422 (Xp11.21) and the second mapped distal to XIST gene, between loci DXS128E and DXS441 (Xq13.2). Uniparental disomy for X and r(X) was excluded and the paternal origin of r(X) was identified. XIST expression was demonstrated by nested reverse transcription polymerase chain reaction (RT-PCR) using primers spanning exons 5, 6i, and 6 in RNA prepared from lymphocytes. The observation of XIST expression is in contrast to two other cases in which the XIST gene was either not present on r(X) or not expressed. To our knowledge, this is the first case of Kabuki-like syndrome manifestations with r(X) and XIST expression.

Abnormalities, Multiple↗
PubMed2001

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features-eg, macrocephaly, lipomatosis, and vascular malformations-can be seen in all three syndromes. We examined PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified de-novo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.

Genes, Tumor Suppressor↗
PubMed2001

[A rare cause of malignant ascites--peritoneal mesothelioma].

HISTORY AND CLINICAL FINDINGS: A 56-year-old patient (case 1) with recurrent haemorrhagic ascites for one year was admitted to our hospital for further investigation. Besides massive ascites he did not show abnormal physical signs. In addition, two 45-year-old patients were admitted (case 2 and 3) with clinical signs of acute abdomen--one having muscular guarding in the epigastric angle, the other in the right lower quadrant. All 3 patients did not have serious illnesses in the past; the first 2 patients had occupational asbestos exposure. INVESTIGATIONS: In patient 1 the ultrasound did not reveal abnormal findings besides ascites. Patients 2 and 3 underwent explorative laparotomy. DIAGNOSIS, TREATMENT AND COURSE: In the first case a diagnostic laparoscopy revealed diffuse tumor proliferations with nodular formations over the entire peritoneum--histologically a malignant peritoneal mesothelioma of the epithelial subtype. Patient 2 showed intraoperatively metastatic spread of tumour formations with infiltration of the peritoneum and transverse mesocolon. The histologic finding was similar to that in the first case. Patient 3 had a perforated sigma diverticulitis which was treated by resection of the sigmoid. Incidentally a well differentiated papillary peritoneal mesothelioma was found in the resected specimen. The first two patients were treated with alpha-interferon subcutaneously resulting in a decrease of ascites production. Because patient 3 showed neither ascites nor evidence for malignancy no interferon was administered. CONCLUSION: In case of haemorrhagic ascites of unknown cause a histological clarification by either laparoscopy or laparotomy is mandatory. Immunomodulation with interferon may be a promising approach.

Antineoplastic Agents↗
PubMed2001

Functional cardiac MR imaging with steady-state free precession (SSFP) significantly improves endocardial border delineation without contrast agents.

Contrast between blood and myocardium in standard turbo gradient echo MR techniques (TFE) used routinely in clinical practice is mainly caused by unsaturated inflowing blood. Steady-state free precession (SSFP) has excellent contrast even in the absence of inflow effects. In 45 subjects cardiac cine loops in two long axis projections were acquired using TFE and compared with SSFP. A visual score (range 0 worst - 3 best) was assigned for endocardial border delineation for six myocardial segments in two long axis views. Endocardial border delineation score for TFE was 1.3 +/- 0.3 per segment and 2.4 +/- 0.3 for SSFP (P < 0.0001). Signal intensity blood/signal intensity myocardium was 1.5 +/- 0.4 at enddiastole and 1.4 +/- 0.3 at systole for TFE and 3.5 +/- 1.1 and 3.2 +/- 1.3 for SSFP, respectively (P < 0.0001). SSFP increases contrast between blood and myocardium more than twofold, resulting in an improved endocardial border definition. This may reduce variability for the determination of cardiac volumes and ejection fraction.

Adult↗
PubMed2001

Combined intrauterine and extrauterine gestation. A rare cause of acute abdominal pain.

This is the report of a patient, that had without using any assisted reproduction technology (ART) the rare event of a heterotopic pregnancy. After verifying the intrauterine pregnancy by ultrasound, the ectopic tubal pregnancy (EP) was detected at an emergency abdominal surgery as the cause of an intraabdominal hemorrhage. After removal the further pregnancy was uncomplicated.

Abdominal Pain↗
PubMed2001

[Stress analysis of the human mandible in standard trauma situations with numerical simulation].

For the stress analysis of the human mandible a flexible simulation concept basing on finite element-method has been developed. One of the main issues is the prediction of fractures as a consequence of known forces as well as the forensic reconstruction of the traumatologic situation. At first, the individual geometry was reconstructed by 3D-CT-Scans. To reduce the simulation efforts, for the time being the anisotropic structural mechanics of the jaw bone was neglected in favour of an homogeneous and isotropic material law. Assuming the Von-Mises-Stress as a failure indicator the results of the simulations were in good agreement with typical traumatologic situations. For further validation of the model, a real failure case, shown on a radiograph of a injured human mandible with three fractures, was simulated and, by this, the real incident was reconstructed. Reasonable planned extensions of the actual simulation concept have the regard on the nerve channel, the temporomandibular joint's function, the paradontal apparatus and the individual mechanical properties of the bone.

Biomechanical Phenomena↗
PubMed2001

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones. Hyperostosis and sclerosis of the skull may lead to cranial nerve compressions resulting in hearing loss and facial palsy. An autosomal dominant form of the disorder (MIM 123000) was linked to chromosome 5p15.2-p14.1 (ref. 3) within a region harboring the human homolog (ANKH) of the mouse progressive ankylosis (ank) gene. The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralization and bone resorption. Here we carry out mutation analysis of ANKH, revealing six different mutations in eight of nine families. The mutations predict single amino acid substitutions, deletions or insertions. Using a helix prediction program, we propose for the ANK molecule 12 membrane-spanning helices with an alternate inside/out orientation and a central channel permitting the passage of PPi. The mutations occur at highly conserved amino acid residues presumed to be located in the cytosolic portion of the protein. Our results link the PPi channel ANK with bone formation and remodeling.

Amino Acid Sequence↗
PubMed2001

Analytical methods for thorium determination: a journey from conventional methods to novel applications.

Thorium may be determined using a variety of analytical methods. These may be based on chemical or physical principles or may make use of the radioactive decay of the individual thorium isotopes. The method to be used for a certain analytical purpose is selected as a function of the matrix of the sample and of the concentration of thorium. The present paper describes different methodologies, their range of application and discusses selected results. The methods described cover a concentration range of more than twelve orders of magnitude, i.e. from concentrated solutions to micrometre-sized particles. Emphasis is given to active radiometric techniques, chemical and instrumental analysis.

Mass Spectrometry↗