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1.
NeuroRehabilitation ; 37(4): 591-624, 2015.
Article in English | MEDLINE | ID: mdl-26639926

ABSTRACT

OBJECTIVE: To generate normative data on the Stroop Test across 11 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate. METHOD: The sample consisted of 3,977 healthy adults who were recruited from Argentina, Bolivia, Chile, Cuba, El Salvador, Guatemala, Honduras, Mexico, Paraguay, Peru, and, Puerto Rico. Each subject was administered the Stroop Test, as part of a larger neuropsychological battery. A standardized five-step statistical procedure was used to generate the norms. RESULTS: The final multiple linear regression models explained 14-36% of the variance in Stroop Word scores, 12-41% of the variance in the Stoop Color, 14-36% of the variance in the Stroop Word-Color scores, and 4-15% of variance in Stroop Interference scores. Although t-tests showed significant differences between men and women on the Stroop test, none of the countries had an effect size larger than 0.3. As a result, gender-adjusted norms were not generated. CONCLUSIONS: This is the first normative multicenter study conducted in Latin America to create norms for the Stoop Test in a Spanish-Speaking sample. This study will therefore have important implications for the future of neuropsychology research and practice throughout the region.


Subject(s)
Color , Stroop Test/standards , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Color Perception Tests , Educational Status , Female , Humans , Language , Latin America , Linear Models , Male , Middle Aged , Reference Values , Sex Factors , Socioeconomic Factors , Young Adult
2.
NeuroRehabilitation ; 37(4): 639-61, 2015.
Article in English | MEDLINE | ID: mdl-26639932

ABSTRACT

OBJECTIVE: To generate normative data on the Trail Making Test (TMT) across 11 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate. METHOD: The sample consisted of 3,977 healthy adults who were recruited from Mexico, Argentina, Peru, Paraguay, Honduras, Chile, Cuba, Puerto Rico, Guatemala, El Salvador, and Bolivia. Each subject was administered the TMT as part of a larger neuropsychological battery. A standardized five-step statistical procedure was used to generate the norms. RESULTS: The final multiple linear regression models for the TMT-A explained 23- 50% of the variance, and the final multiple linear models for the TMT-B explained 22- 49% of the variance. Although there were gender differences on the TMT in Mexico, Peru, Paraguay, and Honduras, only Honduras had an effect size greater than 0.3. As a result, gender-adjusted norms were generated for the Trail Making Test-A, but not B, in this country. CONCLUSIONS: The present study is the first to create norms for the TMT in Latin America. As a result, this study will have important implications for the practice of neuropsychology in the future.


Subject(s)
Trail Making Test/standards , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Educational Status , Female , Humans , Language , Latin America , Linear Models , Male , Middle Aged , Reference Values , Sex Factors , Socioeconomic Factors , Young Adult
3.
NeuroRehabilitation ; 37(4): 719-35, 2015.
Article in English | MEDLINE | ID: mdl-26639934

ABSTRACT

BACKGROUND: The Test of Memory Malingering (TOMM) is an instrument used to assess purposeful embellishment or fabrication of memory difficulties for personal gain. Although the TOMM can be use in non-English speaking cultures, it has not been validated in Spanish-speaking Central and South American contexts. OBJECTIVE: To generate normative data on TOMM across 7 countries in Latin America, with country-specific adjustments for gender, age, and education, where appropriate. METHOD: The sample consisted of 2,266 healthy adults who were recruited from Argentina, Bolivia, Chile, Mexico, Paraguay, Peru, and Puerto Rico. Each subject was administered the TOMM as part of a larger neuropsychological battery. A standardized five-step statistical procedure was used to generate the norms. RESULTS: t-tests did not show significant differences in TOMM performance between men and women in any countries of the TOMM Trial 1 or 2. As a result, gender-adjusted norms were not generated. CONCLUSIONS: The results from this study will have a large impact on the practice of neuropsychology in Latin America, as this is the first normative multicenter study to create norms for the TOMM in this global region.


Subject(s)
Malingering/diagnosis , Malingering/psychology , Memory Disorders/diagnosis , Memory Disorders/psychology , Neuropsychological Tests/standards , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Educational Status , Female , Humans , Language , Latin America , Male , Middle Aged , Reference Values , Regression Analysis , Sex Factors , Socioeconomic Factors , Young Adult
4.
AMIA Annu Symp Proc ; 2014: 872-81, 2014.
Article in English | MEDLINE | ID: mdl-25954394

ABSTRACT

Secure access to patient data is becoming of increasing importance, as medical informatics grows in significance, to both assist with population health studies, and patient specific medicine in support of treatment. However, assembling the many different types of data emanating from the clinic is in itself a difficulty, and doing so across national borders compounds the problem. In this paper we present our solution: an easy to use distributed informatics platform embedding a state of the art data warehouse incorporating a secure pseudonymisation system protecting access to personal healthcare data. Using this system, a whole range of patient derived data, from genomics to imaging to clinical records, can be assembled and linked, and then connected with analytics tools that help us to understand the data. Research performed in this environment will have immediate clinical impact for personalised patient healthcare.


Subject(s)
Confidentiality , Datasets as Topic , Information Systems , Software , Electronic Health Records , Humans , Medical Informatics
5.
Am J Med Genet A ; 158A(3): 664-8, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22302747

ABSTRACT

Mutations in ACTA2 (smooth muscle cell-specific isoform of α-actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More recently, the ACTA2 R179H mutation has been described in individuals with global smooth muscle dysfunction. We report a patient heterozygous for the mutation in ACTA2 R179H who presented with megacystis at 13 weeks gestational age and, at birth, with prune-belly sequence. He also had deep skin dimples and creases on his palms and soles, a finding not previously described but possibly related to ACTA2. To our knowledge, this is the first report of the R179H mutation in ACTA2 in a child with prune-belly sequence. We think the R179H mutation in ACTA2 should be included in the differential diagnosis of individuals presenting with the sequence without an identified mechanical obstruction. Furthermore, as ACTA2 R179H has been reported in patients with severe vasculomyopathy and premature death, we recommend that molecular testing for this mutation be considered in fetuses presenting with fetal megacystis with a normal karyotype, particularly if the bladder diameter is 15 mm or more, to allow expectant parents to make an informed decision.


Subject(s)
Actins/genetics , Mutation , Prune Belly Syndrome/genetics , Skin Diseases/genetics , Humans , Infant, Newborn , Male , Phenotype , Prune Belly Syndrome/pathology , Ultrasonography, Prenatal
6.
Europace ; 7(2): 175-80, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15763534

ABSTRACT

AIM: The hypothesis was that there is more undetected dysfunction of implanted pacemaker systems than that detected and corrected. This prompted a research project (sponsored by the German Research Foundation) to detect pacemaker abnormalities and evaluate their complications for patients, thus, proving or disproving the hypothesis. METHODS AND RESULTS: Four hundred and fifteen pacemakers of deceased patients were analyzed assessing their functionality by in situ measurements and bench tests including five measurements and one telemetric interrogation. Results were divided into four categories and statistically evaluated. Life-threatening abnormalities were found in 3.8%, potentially life-threatening in 3.7%, probably symptomatic, divided into atrial and ventricular problems, 13.3% and 2.8%, respectively, and premature exhaustion in 1.2%. Three of 179 bipolar ventricular leads and 2 of 131 bipolar atrial leads had insulation defects corresponding to 1.7% and 1.5%, respectively. The bipolar complication rate was 2.8 times higher than unipolar. CONCLUSION: The pacemaker patients investigated, living 4 years with their pacemaker on average, had a post-mortem evaluated complication rate of the category "life-threatening" of 3.8%. This result corresponds to an annual complication rate of 0.94% compared with a rate of only 0.39% in an earlier investigation.


Subject(s)
Pacemaker, Artificial , Aged , Aged, 80 and over , Cadaver , Electrodes, Implanted , Equipment Failure Analysis , Female , Germany , Humans , Male
7.
Dtsch Med Wochenschr ; 129(37): 1931-4, 2004 Sep 10.
Article in German | MEDLINE | ID: mdl-15372373

ABSTRACT

Now-a-days immunoassays are world wide used for the rapid screening of drugs. Despite the fact that they are a highly valuable tool for the test of legal and illicit drugs, there is a non-negligible risk of false positive and false negative findings and many pitfalls must be taken into account when using these tests in an uncritical manner and without valid confirmation procedures.


Subject(s)
Drug Evaluation, Preclinical/methods , Immunoassay/methods , Cross Reactions , False Negative Reactions , False Positive Reactions , Humans , Immunoassay/adverse effects , Toxicity Tests/methods
9.
Pediatr Transplant ; 6(5): 411-8, 2002 Oct.
Article in English | MEDLINE | ID: mdl-12390429

ABSTRACT

Current data indicate that pharmacokinetic (PK) monitoring of cyclosporin microemulsion (CsA) should be performed using the 2-h concentration (C2), that tacrolimus (Tac) is commonly monitored using the trough level, and mycophenolate mofetil (MMF) should be monitored using the 1-h (C1), 2-h (C2) and 6-h (C6) concentrations. The three differing time-point requirements are cumbersome, and we aimed to develop universal guidelines for all three drugs using a large number of full PK profiles in children. One-hundred and twenty two stable pediatric patients, receiving either CsA (165 PK profiles, 69 patients, 24 with concomitant MMF) or Tac (122 PK profiles, 53 patients, 18 with MMF) were analyzed retrospectively. Pearson r for the CsA C2 was 0.90 [95% confidence interval(CI): 0.86-0.92], for Tac C2 r was 0.86 (95% CI: 0.80-0.90), and for MPA C2 r was 0.77 (95% CI: 0.68-0.83), respectively. For MPA, at least three time-points are required to accurately estimate the area under the concentration-time curve (AUC), and C1, C2 and C6 serve as best markers. Excellent AUC estimations could be obtained from a limited sampling strategy from C1, C2 and C6 or C0, C1, C2 and C4 with clinically acceptable errors for all three drugs. The AUC can be estimated with great precision by using an identical approach for all three drugs. Target AUCs for a given time-point after transplantation remain to be established.


Subject(s)
Area Under Curve , Cyclosporine/pharmacokinetics , Immunosuppressive Agents/pharmacokinetics , Kidney Transplantation , Mycophenolic Acid/pharmacokinetics , Tacrolimus/pharmacokinetics , Adolescent , Child , Humans , Kidney Transplantation/physiology , Monitoring, Physiologic , Mycophenolic Acid/analogs & derivatives
10.
Forensic Sci Int ; 125(2-3): 250-3, 2002 Feb 18.
Article in English | MEDLINE | ID: mdl-11909672

ABSTRACT

A Pilatus PC 6 "Turbo-Porter" crashed after having dropped skydivers. The interdisciplinary investigation of the crash revealed that the automated reserve opening device "Student-CYPRES" which the passenger wore on his parachute system had been set off during the landing approach. The parachute pulled the passenger out of the airplane. Subsequently the parachute got caught at the horizontal tail, and its wearer was instantly killed by internal decapitation. The airplane crashed because of its damaged horizontal tail, and the pilot lost his life.


Subject(s)
Accidents, Aviation , Craniocerebral Trauma/etiology , Forensic Medicine , Equipment Failure , Humans , Male
11.
J Forensic Sci ; 46(6): 1492-7, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11714166

ABSTRACT

A case of sudden death due to recurrent pulmonary thromboembolism is described. The fatality took place three and a half weeks following blunt trauma to the left popliteal region. The patient died unexpectedly. Autopsy revealed the source of the emboli as a sacciform venous aneurysm of the popliteal vein, an entity seldom described, but important to consider in cases of soft tissue popliteal masses or unexplained pulmonary embolism, especially in otherwise healthy individuals.


Subject(s)
Aneurysm/complications , Popliteal Vein/injuries , Pulmonary Embolism/etiology , Adult , Aneurysm/pathology , Athletic Injuries/complications , Death, Sudden/etiology , Fatal Outcome , Forensic Medicine , Histocytochemistry , Hockey , Humans , Male , Popliteal Vein/pathology , Pulmonary Embolism/pathology , Wounds and Injuries
12.
Arch Kriminol ; 207(5-6): 154-61, 2001.
Article in German | MEDLINE | ID: mdl-11508052

ABSTRACT

Tacrine, a cholinesterase inhibitor for symptomatic treatment of minor to moderate dementia, and its primary metabolites 1-hydroxy-tacrine and 4-hydroxy-tacrine were studied by means of thin-layer chromatography, UV spectroscopy and gas-chromatography/mass spectroscopy. The analytical data (corrected hRf values, UV spectra in solution as well as reflectance spectra, high-pressure liquid chromatography data, GC retention indices and EI mass spectra) including various derivatization methods are described.


Subject(s)
Cholinesterase Inhibitors/pharmacokinetics , Tacrine/analogs & derivatives , Tacrine/pharmacokinetics , Biotransformation , Cholinesterase Inhibitors/adverse effects , Dose-Response Relationship, Drug , Drug Interactions , Humans , Metabolic Clearance Rate , Structure-Activity Relationship , Tacrine/adverse effects
13.
Arch Kriminol ; 207(1-2): 49-55, 2001.
Article in German | MEDLINE | ID: mdl-11304926

ABSTRACT

Johann Joachim Winckelmann, German historian of ancient art and archaeologist, was born on 9 December 1717 in Stendal, a town in Saxony-Anhalt. At the age of 50 he was murdered on 8 June 1768 in a Trieste hotel. The voluminous original record of the criminal proceedings against his murderer, Francesco Arcangeli, was presumed lost for about 150 years. A new edition in the wording of the original text appeared in 1964. This long sought historical document gives cause for forensic-historical reflections under consideration of the autopsy protocol about Winckelmann, which is likewise a historical document. A considerable change of paradigm in comparison to current autopsy protocols is observed with regard to the evaluation of injuries and the circumstances of death.


Subject(s)
Famous Persons , Forensic Medicine/history , Homicide/history , Wounds, Stab/history , Archaeology/history , Autopsy/history , Germany , History, 18th Century , Humans , Italy , Male
14.
Forensic Sci Int ; 124(2-3): 209-13, 2001 Dec 27.
Article in English | MEDLINE | ID: mdl-11792514

ABSTRACT

Two cases (involving five murder victims) of multiple homicide by inhalational chloroform intoxication are reported. In the discussion of the findings the valence of toxicological analyses is underlined with regard to the possibility of forcible external suffocation due to occlusion of the respiratory orifices by means of a chloroform-soaked soft covering. In addition storage experiments were performed at +4, +20 and -20 degrees C with cadaver blood mixed with chloroform. The optimal solution for avoiding volatile losses was stored in glass tubes with ground glass stoppers. In cases of unclear death in which involvement of volatile substances is suspected it is, therefore, advisable to preserve an additional blood sample at -20 degrees C in glass tubes that are only opened for the analysis of volatile substances.


Subject(s)
Chloroform/poisoning , Forensic Medicine/methods , Homicide/statistics & numerical data , Lung/pathology , Solvents/poisoning , Adolescent , Child , Child, Preschool , Chloroform/blood , Female , Humans , Male , Time Factors , Tissue Preservation
15.
Arch Kriminol ; 208(5-6): 159-64, 2001.
Article in German | MEDLINE | ID: mdl-11824096

ABSTRACT

The authors report on an initially unrecognized fatal accident caused by electric current at the place of work. The source of the current was a satellite dish which had been improperly connected to an old music box with subsequent connection to the household electrocution system (220 V, 50 Hz). Only when a second nearly fatal accident occurred, proper diagnosis and detection of the uncommon source of the electric current was made.


Subject(s)
Accidents, Occupational/legislation & jurisprudence , Electric Injuries/pathology , Satellite Communications/instrumentation , Adult , Autopsy/legislation & jurisprudence , Cause of Death , Fatal Outcome , Humans , Male
16.
Int J Legal Med ; 113(6): 352-5, 2000.
Article in English | MEDLINE | ID: mdl-11100431

ABSTRACT

Genotypes of the ABO blood group system were investigated using a multiplex PCR and subsequent restriction enzyme digestion on experimental blood stains. Differences were found when typing blood between the PCR and serological methods and one blood sample, typed as B with the agglutination test was classified as AB using the method described here. The subsequent sequencing procedure revealed the genotype to be BB. Methodological causes for errors in typing which should be taken into consideration are discussed.


Subject(s)
ABO Blood-Group System/genetics , Blood Grouping and Crossmatching , Blood Stains , Polymerase Chain Reaction , Agglutination Tests , Alleles , Base Sequence , DNA/genetics , Exons/genetics , Genotype , Humans , Medical Errors , Sensitivity and Specificity
17.
Arch Kriminol ; 205(5-6): 152-61, 2000.
Article in German | MEDLINE | ID: mdl-10923169

ABSTRACT

A 35 year-old male was found dead within a vast collection of garbage in his parent's house with 13 stab wounds of the thorax. 6 years before death he had suffered from a severe cerebral trauma with intracranial hemorrhage, after which an organic psychosis had ensued. At autopsy besides the stab wounds measuring 1-3.5 cm in length and partly exhibiting a so-called "fish-tail" formation a piece of wood was detected, having penetrated the fourth intercostal space along the sternal border and lacerated the pericardium, right pulmonary hilum and the pleura parietalis at the paravertebral line between the eight and ninth rib. There the leading part of the tool had apparently broken and bent to the left in a nearly 90 degrees angle, thus penetrating the left pleural cavity with a slight laceration of the lower lobe of the lung. From the forensic pathologist's point of view this case of multiple stabbing and additional impalement was at least remarkable and at first sight might have raised a suspicion of homicide due to the extent of the rib penetrations and especially the intrusion of the wooden device, which had been pushed by substantial force into an already existing wound. The police presupposed a suicide based on the personal history and situation at the site, where no traces suggesting an activity of somebody else could be ascertained. Reconstruction of the case and resulting differential diagnostic considerations are to be discussed.


Subject(s)
Neurocognitive Disorders/pathology , Suicide/legislation & jurisprudence , Thoracic Injuries/pathology , Wounds, Stab/pathology , Adult , Autopsy/legislation & jurisprudence , Diagnosis, Differential , Homicide/legislation & jurisprudence , Humans , Male , Neurocognitive Disorders/psychology , Suicide/psychology , Thorax/pathology
18.
Arch Kriminol ; 202(3-4): 95-9, 1998.
Article in German | MEDLINE | ID: mdl-9856277

ABSTRACT

For an evaluation concerning different regional population and community characteristics, 23 fatalities of homeless individuals were selected from the current autopsy series of the Institutes of Legal Medicine of Giessen/Germany and Hamburg/Germany from 1990 to 1996. The outcome of this retrospective analysis enables to overcome the deficiency of knowledge of causes, manners and circumstances of death among homeless individuals.


Subject(s)
Autopsy/legislation & jurisprudence , Cause of Death , Ill-Housed Persons/legislation & jurisprudence , Accidents/legislation & jurisprudence , Adult , Expert Testimony/legislation & jurisprudence , Female , Germany , Homicide/legislation & jurisprudence , Humans , Male , Middle Aged
19.
Neurosci Lett ; 248(3): 147-50, 1998 Jun 05.
Article in English | MEDLINE | ID: mdl-9654330

ABSTRACT

Central serotonergic neurotransmission has been implicated in the aetiology of ethanol tolerance and dependence. Cellular expression of the serotonin transporter and serotonin reuptake is modulated via a polymorphic, repetitive element in the 5'-flanking regulatory region of the serotonin transporter gene (5-HTTLPR). We report the association of the low-activity, short variant of the 5-HTTLPR with high ethanol tolerance among young adults in a case-control association study (n = 713). The low-activity 5-HTTLPR showed a significantly increased allele frequency (chi2 = 7.30; df = 2; P = 0.007) and genotype frequency among young adults (< or =26 years) with high ethanol tolerance homozygous for the short allele (chi2 = 7.58; df = 1; P = 0.02). The estimated odds ratio for the homozygous short variant compared to the homozygous long variant was 2.82 (95% CI 1.30-6.11). This indicates that the low-activity 5-HTTLPR may be involved in the neuronal mechanisms responsible for ethanol tolerance and dependence.


Subject(s)
Carrier Proteins/drug effects , Carrier Proteins/genetics , Ethanol/pharmacology , Membrane Glycoproteins/drug effects , Membrane Glycoproteins/genetics , Membrane Transport Proteins , Nerve Tissue Proteins/genetics , Promoter Regions, Genetic/drug effects , Serotonin/genetics , Adult , Alcoholism/genetics , Case-Control Studies , Drug Tolerance , Female , Genotype , Humans , Male , Serotonin Plasma Membrane Transport Proteins
20.
Arch Kriminol ; 201(3-4): 93-6, 1998.
Article in German | MEDLINE | ID: mdl-9582976

ABSTRACT

Numerous urine samples were found to be positive when using a new amphetamine immunoassay (AxSYM). Confirmation analysis was carried out in a second laboratory at "reasonable prices" using a simple TLC-method with non specific ninhydrine detection and resulted in many "positive" confirmation findings. The GC/MS analysis clearly indicated the absence of amphetamine derivatives regularly encountered in forensic toxicology. The false-positive immunochemical findings may probably be caused by endogenous substances.


Subject(s)
Amphetamine/urine , False Positive Reactions , Gas Chromatography-Mass Spectrometry , Humans , Immunoassay/standards
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