HLA-B27 in patients with a permanent pacemaker.
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Biomedical subjects
Publications and source records attributed to V Schneider.
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We investigated retrospectively the forensic autopsy cases of suicide by self-immolation in Berlin from 1990 to 2000. There were 46 cases (35 men and 11 women), corresponding to 0.76% of all known suicides committed in Berlin during this period. The most common reasons for self-immolation were separation from a partner or financial problems. Two individuals had political reasons. There was a history of mental disturbances in 65% of these suicide cases. The location of the self-immolation was outdoors in 65%, the rest were indoors, except for three victims, who committed suicide in their cars. In nearly all cases, the individuals had doused themselves with an inflammable fluid, usually petrol. One-third of the victims died from burn shock, about 20% from a combination of severe burns and inhalation trauma. The median body surface area burnt was 78% for all cases. The blood had a mean 21% carboxyhemoglobin concentration and 0.07 microg/ml of cyanide. Suicide by self-immolation was committed under the influence of drugs in nine cases and of alcohol in 11 cases.
Three cases are presented where fatal puncture wounds caused by broken glass were very similar to stab wounds inflicted by a knife with a single-edged blade. Thus, all three cases caused a murder investigation to be initiated. It could only be determined that these wounds had been caused by glass after a detailed forensic autopsy. In two of the three cases, the only evidence for this was the identification of glass fragments in the wounds. The importance of X-ray examinations is underlined because modern glass in common use is radiopaque. Glass fragments lodged in the wounds can reduce the loss of blood and thus, prolong the capacity to act despite severe injuries.
We have analyzed the TbAT1 gene, which codes for the P2 adenosine transporter, from Trypanosoma brucei field isolates to investigate a possible link between the presence of mutations in this gene and melarsoprol treatment failure. Of 65 T. b. gambiense isolates analyzed from a focus in north-western Uganda with high treatment failure rates following melarsoprol therapy, 38 had a mutated TbAT1. Unexpectedly, all individual isolates contained the same set of nine mutations in their TbAT1 genes. Of these, five point mutations resulted in amino acid substitutions, one resulted in the deletion of an entire codon, and three were silent point mutations. Eight of these mutations had previously been reported in a laboratory-derived Cymelarsan-resistant T. b. brucei clone. Identical sets of mutations were also found in a drug-resistant T.b.rhodesiense isolate from south-eastern Uganda and in a T.b.gambiense isolate from a relapsing patient from northern Angola. A deletion of the TbAT1 gene was found in a single T. b. gambiense isolate from a relapsing patient from northern Angola. The data presented demonstrate the surprising finding that trypanosomes from individual relapse patients of one area, as well as from geographically distant localities, contain an identical set of point mutations in the transporter gene TbAT1. They further demonstrate that many isolates from relapse patients contained the wild-type TbAT1 genes, suggesting that melarsoprol refractoriness is not solely due to a mutational inactivation of TbAT1.
Doxylamine is an antihistamine of the ethanolamine class. It is used primarily as a sleep-inducing agent. Only a few reports can be found in the literature about lethal intoxications with doxylamine, but many with combined intoxications. Doxylamine is, aside from diphenhydramine, the only chemically defined active ingredient in some sleeping medications which is available without a prescription in the Federal Republic of Germany. Two cases of doxylamine poisoning are presented, in which high doxylamine concentrations were found in the blood and organs.
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This article gives a short overview of medical education in Germany. The legal basis and organization of the medical studies program as well as the course in forensic medicine and the training duration for forensic pathologists are described.
Proviral human immunodeficiency virus type 1 (HIV-1) DNA could be a useful marker for exploring viral reservoirs and monitoring antiretroviral treatment, particularly when HIV-1 RNA is undetectable in plasma. A new technique was developed to quantify proviral HIV-1 using a TaqMan real-time PCR assay. One copy of proviral HIV-1 DNA could be detected with 100% sensitivity for five copies and the assay had a range of 6 log(10). Reproducibility was evaluated in intra- and interassays using independent extractions of the 8E5 cell line harboring the HIV-1 proviral genome (coefficients of variation [CV], 13 and 27%, respectively) and peripheral blood mononuclear cells (PBMC) from a patient with a mean proviral load of 26 copies per 10(6) PBMC (CV, 46 and 56%, respectively). The median PBMC proviral load of 21 patients, measured in a cross-sectional study, was determined to be 215 copies per 10(6) PBMC (range, <10 to 8,381). In a longitudinal study, the proviral load of 15 out of 16 patients with primary infection fell significantly during 1 year of antiretroviral therapy (P = 0.004). In the remaining patient, proviral HIV-1 DNA was detectable but not quantifiable due to a point mutation at the 5' end of the TaqMan probe. No correlation was observed between proviral load and levels of CD4(+) cells or HIV-1 RNA in plasma. TaqMan PCR is sensitive and adaptable to a large series of samples. The full interest of monitoring proviral HIV-1 DNA can now be ascertained by its application to the routine monitoring of patients.
X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosphatase Sbf1/hMTMR5). We report 29 mutations in novel cases, including 16 mutations not described before. To date, 198 mutations have been identified in unrelated families, accounting for 133 different disease-associated mutations which are widespread throughout the gene. Most point mutations are truncating, but 26% (35/133) are missense mutations affecting residues conserved in the Drosophila ortholog and in the homologous MTMR1 gene. Three recurrent mutations affect 17% of the patients, and a total of 21 different mutations were found in several independent families. The frequency of female carriers appears higher than expected (only 17% are de novo mutations). While most truncating mutations cause the severe and early lethal phenotype, some missense mutations are associated with milder forms and prolonged survival (up to 54 years).
The temperature-based nomogram method for estimation of the time period since death was used at the scene of death as the primary method within a compound method in 72 consecutive cases. The situation and cooling conditions inspected and evaluated by the forensic pathologist at the scene are described as far as necessary to enable handling of the method. A comparison of the estimated period since death with the period determined by the police investigations demonstrates the reliability of the method. There were no contradictions in any of the 60 cases between the period of death estimated by this method and that determined by the police investigations. The criminal investigations were effectively supported in the earliest stages in 11 cases despite the fact that the period estimated was of considerable duration.
The period since death was estimated at the scene in 72 consecutive cases using the temperature-based nomogram method as the primary method and supplemented by examination of criteria such as lividity, rigor mortis, mechanical and electrical excitability of skeletal muscle and chemical excitability of the iris. A case-oriented, computer-assisted selection of the non-temperature-based methods and integration of the results into a common result of the compound method was made following a special logistic. The limits of the period since death as estimated by the nomogram were improved in 49 cases by including the non-temperature-based methods and also provided results in 4 cases where the temperature method could not be used. In a further 6 cases the non-temperature-based methods confirmed the limits estimated by the temperature method but in 14 cases a useful result could not be obtained. In only one of the cases investigated was the upper limit of the period since death, as estimated by the criterion re-establishment of rigor (8 h post-mortem), in contradiction with the period determined by the police investigations (9.4 h post-mortem).
A 28-year-old man was shot in the back of the head at close range by a robber who then locked him in a room assuming that he was dead. The man was discovered 2 days later. The entrance wound of the bullet was in the left occipital region and it passed into the periphery of the right temporal lobe, where it lodged. The man was transferred to a rehabilitation centre 3 weeks later in relatively good health with only slight general EEG changes. The mild clinical course in this case is attributable to two major factors: firstly, no important brain structures were injured, and secondly, the kinetic energy of the silver-tip hollow-point bullet was probably rather low. Three years after the incident, the man still has slight sensory disturbances in the fingers of the left hand and left-sided homonymous hemianopia. He is now working again at his old profession (managing director) and the projectile is still lodged in the right temporal lobe.
OBJECTIVE: To examine the relation between uterine blood flow and endometrial thickness on transvaginal Doppler ultrasonography, serum E2 and progesterone levels, and the histologic dating of an endometrial biopsy specimen obtained in the midluteal phase of a spontaneous cycle. DESIGN: Prospective clinical study. SETTING: A tertiary care infertility center. PATIENT(S): One hundred fifty-nine patients with normal menstrual cycles. INTERVENTION(S): Transvaginal Doppler ultrasonographic evaluation of uterine blood flow and endometrial thickness, determination of serum concentrations of E2 and progesterone, and endometrial biopsy. MAIN OUTCOME MEASURE(S): Resistance index, pulsatility index, serum E2 and progesterone levels, endometrial thickness, and histologic dating of the endometrium. RESULT(S): One hundred thirteen (71%) of the endometrial biopsy specimens showed complete secretory transformation and thus were classified as "in phase," and 46 (29%) of the specimens lacked some or all of the criteria for secretory transformation and thus were classified as "out of phase." There was no statistically significant difference between the in phase and out of phase groups with regard to patient age, endometrial thickness, serum hormone levels, or resistance index. The pulsatility index was significantly higher in the in phase group. The overall predictive value of the studied parameters was only 64% (sensitivity, 57%; specificity, 66%). CONCLUSION(S): Doppler ultrasonographic evaluation of uterine blood flow and measurement of hormone concentrations cannot be used to predict the histologic dating of an endometrial biopsy specimen obtained in the midluteal phase of a spontaneous cycle.
This report presents the case of a young man legally convicted twice on a charge of defiling the dead. All necrophilic acts were committed over a period of around 15 years. The examination results revealed a purely female-fixated necrophilia. In three cases, the perpetrator skinned the trunk of the corpses, placed the skin on his naked body and stimulated himself sexually. In several cases, he also used burial clothes that he had removed from the coffins and kept at home. The perpetrator had a long record of psychiatric treatment for his sexual inclination.
We will briefly discuss a series of countermeasures that are currently being developed to maintain bone mass and the integrity of supporting connective tissues. Our objective is to focus on several countermeasures under development which can be tested on the ISS. Other countermeasures may also be needed to provide additional safety factors which are required before long duration spaceflight is undertaken.
A report is presented on a 47 year old man who committed suicide by hanging himself from a staircase bannister of an apartment house. The man, weighing 144 kg jumped with the noose of a 2 cm thick and 2 m long hemp rope around his neck and was completely decapitated. Death from typical "normal" suicidal hanging is usually due to cerebral ischaemia caused by compression of the carotid (and vertebral) arteries. Except for bleeding at the clavicular insertions of the sternocleidomastoid muscles there are only occasional injuries to the cervical soft parts or hyoid bone and/or laryngeal cartilage. A fall with a noose around the neck, on the other hand, is associated with more frequent injuries to cervical structures through additional axial traction and radial shearing forces of the tightening noose. Complete decapitation can occur in rare cases under extreme conditions (heavy body weight, inelastic and/or thin rope material, fall from a great height).
OBJECTIVE: To characterize the immune changes after treatment of acute HIV-1 infection with triple nucleoside analogue therapy. DESIGN: Immunological and virological parameters were monitored from day 0 to weeks 36-44 in eight patients [median CD4 cells = 451 cells/microl (range: 149-624), viral load = 4.8 log10 copies/ml (range: 6.5-3.3)] who started at time of primary HIV infection (PHI) a therapy including zidovudine (ZDV), didanosine (ddl), and lamivudine (3TC). METHODS: Lymphoid subsets were evaluated on peripheral blood lymphocytes by four-colour flow cytometry using a panel of mAbs directed against differentiation and activation markers. RESULTS: We observed a median -2.1 (range: -1; -3.3) log10 copies/ml viral load decrease and a median +158 cells/microl (range: +7 to +316) CD4 cell count increase at week 4 reaching normal CD4 cell count values of 761 CD4 cells/microl (range: 389-1153) at weeks 36-44. Virus undetectability was obtained at week 24 for all subjects. A rapid CD4 T cell amplification involved both memory and naive CD4 T cells. This was associated with a very rapid and significant decrease in activation markers [human leukocyte antigen-DR (HLA-DR), CD38] on both CD4 and CD8 T cell subsets together with a CD8+CD28+ cell increase as early as week 4. CONCLUSIONS: These results show that early therapy with nucleoside analogues can correct the immunological abnormalities observed in CD4 and CD8 T cell subsets at the time of PHI. This early kinetics in T cell recovery appears to be faster than in established disease.