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Biomedical subjects

V Schneider

Publications and source records attributed to V Schneider.

At least 37 records · Page 2Linked to original sources

An extreme case of necrophilia.

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.

Journal Article↗

Countermeasure development: future research targets.

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.

Biomechanical Phenomena↗

Bone mineral and lean tissue loss after long duration space flight.

The loss of bone and muscle is a major concern for long duration space flight. In December of 1989, we established a collaboration with Russian colleagues to determine the bone and lean tissue changes in cosmonauts before and after flights on the Mir space station lasting 4-14.4 months. Eighteen crew members received a lumbar spine and hip DEXA scan (Hologic 1000W) before and after flight; 17 crew members received an additional whole body scan. All results were expressed as percent change from baseline per month of flight in order to account for the different flight times. The pre-and post-flight data were analyzed using Hotelling's T(2) for 3 groups of variables: spine, neck of femur, trochanter; whole body BMD and subregions; lean (total, legs, arms) and fat (total only). A paired t-test was used as a follow-up to the Hotelling's T(2) to identify the individual measurements that were significantly different. These data define the rate and extent of bone and lean tissue loss during long duration space flight and indicate that the current in-flight exercise program is not sufficient to completely ameliorate bone and muscle loss during weightlessness.

Journal Article↗

Decapitation as a result of suicidal hanging.

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).

Craniocerebral Trauma↗

T cell changes after combined nucleoside analogue therapy in HIV primary infection.

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.

Adult↗

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly affecting newborn males. Neonatal muscle weakness and hypotonia usually leads to a rapid demise. The responsible gene, MTM1, was isolated in 1996, and mutational data derived from 90 patients have been published. We report on our findings in a further 53 patients, using genomic DNA and mRNA screening protocols. Thirty-four novel mutations were identified in 37 cases, and six known mutations found in 10 other patients. The 34 new mutations include five large deletions, eight nonsense, six frameshift, five missense, and eight splice-site mutations, whereas two intronic variants causing partial exon skipping represent the first report on such a mechanism in MTM1. Two deletions, one involving exon 1, and the second exon 15, are the first defects to be identified in these exons. The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations.

Adult↗

Photodegradation of imidacloprid.

The photolytic decomposition of the insecticide imidacloprid (1) in HPLC grade water and of imidacloprid as the formulated product Confidor insecticide in tap water was studied using HPLC methodology. The structures of several degradates have been determined in aquatic medium, and the DT(50) values of imidacloprid and Confidor have been measured. In addition, the influence of TiO(2) on the photodegradation of Confidor was studied. The photoproduct 1-(6-chloro-3-pyridinyl)methyl-2-imidazolidinone (5) has been identified as the main degradate in each of the three series of experiments by several analytical techniques. The photolytic half-lives for imidacloprid under the conditions of this study were 43 min in HPLC grade water, 126 min formulated as Confidor in tap water, and 144 min formulated as Confidor in tap water in the presence of TiO(2).

Chromatography, High Pressure Liquid↗

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.

The large size of many disease genes and the multiplicity of mutations complicate the design of an adequate assay for the identification of disease-causing variants. One of the most successful methods for mutation detection is the single strand conformation polymorphism (SSCP) technique. By varying temperature, gel composition, ionic strength and additives, we optimised the sensitivity of SSCP for all 27 exons of the CFTR gene. Using simultaneously SSCP and heteroduplex (HD) analysis, a total of 80 known CF mutations (28 missense, 22 frameshift, 17 nonsense, 13 splicesite) and 20 polymorphisms was analysed resulting in a detection rate of 97.5% including the 24 most common mutations worldwide. The ability of this technique to detect mutations independent of their nature, frequency, and population specificity was confirmed by the identification of five novel mutations (420del9, 1199delG, R560S, A613T, T1299I) in Swiss CF patients, as well as by the detection of 41 different mutations in 198 patients experimentally analysed. We present a three-stage screening strategy allowing analysis of seven exons within 5 hours and analysis of the entire coding region within 1 week, including sequence analysis of the variants. Additionally, our protocol represents a general model for point mutation analysis in other genetic disorders and has already been successfully established for OTC deficiency, collagene deficiency, X-linked myotubular myopathy (XLMTM), Duchenne and Becker muscular dystrophy (DMD, BMD), Wilson disease (WD), Neurofibromatosis I and II, Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and defects in mitochondrial DNA. No other protocol published so far presents standard SSCP/HD conditions for mutation screening in different disease genes.

Base Sequence↗

Novel human erythrovirus associated with transient aplastic anemia.

Erythrovirus (formerly parvovirus) B19 causes a wide range of diseases in humans, including anemia due to aplastic crisis. Diagnosis of B19 infection relies on serology and the detection of viral DNA by PCR. These techniques are usually thought to detect all erythrovirus field isolates, since the B19 genome is known to undergo few genetic variations. We have detected an erythrovirus (V9) markedly different from B19 in the serum and bone marrow of a child with transient aplastic anemia. The B19 PCR assay yielded a product that hybridized only very weakly to the B19-specific probe and whose sequence diverged more from those of 24 B19 viruses (11 to 14%) than the divergence found within the B19 group (</=6.65%). Restriction enzyme analysis of the V9 genome revealed that this genetic divergence extended beyond the amplified region. Interestingly, serological tests failed to demonstrate a response characteristic of acute B19 infection. V9 could be a new erythrovirus, and new diagnostic tests are needed for its detection.

Amino Acid Sequence↗

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.

We have identified a novel mitochondrial (mt) DNA mutation in the tRNA(Phe)-gene in a patient with an isolated mitochondrial myopathy. This T to C transition at position 618 disrupts a strictly conserved base pair within the anticodon stem of tRNA(Phe). Computer analysis showed that the affected base pair is essential for anticodon stem formation of tRNA(Phe). The mutant mtDNA was heteroplasmic in skeletal muscle (95% mutant) and peripheral blood cells (20% mutant) from the patient but was undetectable in blood cells from his healthy sister. The patient presented with ragged red fibers and reduced activities of complex I and complex III in skeletal muscle. The T618C mutation described here is the second found in this region. Both mutations affect the same base pair of the tRNA(Phe) anticodon stem substantiating the pathogenic nature of both mutations.

Adult↗

Production of HIV-1 by human B cells infected in vitro: characterization of an EBV genome-negative B cell line chronically synthetizing a low level of HIV-1 after infection.

Human immunodeficiency virus type 1 (HIV-1) has tropism for helper T lymphocytes and cells of the monocyte/ macrophage lineages. HIV-1 can also infect other cell types, including B cells. We show here that 10% of fresh circulating B cells from HIV-1-seronegative donors (i) express the CD4 receptor and CCR5 and CXCR4, two recently described coreceptors for HIV-1 and (ii) are permissive to HIV-1 with de novo proviral DNA integration following ex vivo infection by either SI (syncytium-inducing) or NSI (non-syncytium-inducing) isolates. To get further information on the interaction between HIV and B cells, the susceptibility of several EBV-positive or -negative B cell lines to infection by SI and NSI isolates was checked. Following infection of an EBV- CD4+ CXCR4+ CCR5- B cell line (DG75) by an SI HIV-1 isolate, we obtained a cell line which chronically produced low-level infectious HIV-1 for 2 years (HIV-DG75). Immunocytochemical data, combined with in situ PCR data, established that HIV-DG75 cells consist of at least three populations uninfected cells, infected virus-producing cells, and infected but nonproducing cells. Moreover, HIV-DG75 cells which express p24 antigen do not go into apoptosis, contrary to T lymphocytes. We infer from these results that B cells could constitute a reservoir of infectious virus in infected patients.

Antigens, CD19↗

Contribution of long-bone radiographs to the management of congenital syphilis in the newborn infant.

OBJECTIVE: To determine the contribution of long-bone radiographs to the diagnosis and management of newborn infants at risk for congenital syphilis. DESIGN: Historical cohort. SETTING: Three large hospitals in Houston, Tex. PATIENTS: Eight hundred fifty-three live born infants who were evaluated for the presence of congenital syphilis. INTERVENTION: Long-bone radiographs done as part of the diagnostic evaluation for the presence of congenital syphilis. MAIN OUTCOME MEASURE: Changes in diagnostic classification or management decisions that were based on radiographic findings in the long bones. RESULTS: For 450 infants, radiographic results did not affect management because clinical or historical factors were present that dictated treatment: 26 infants had clinical symptoms of congenital syphilis (65% [17] had abnormalities on radiographs); and 424 infants were born to mothers who were untreated or reinfected (5.9% [25] had abnormalities on radiographs). All of these infants required a full course of therapy regardless of radiologic findings. Born to mothers with possibly inadequate therapy (according to 1993 Centers for Disease Control and Prevention guidelines), 237 asymptomatic newborn infants were candidates for a single injection of penicillin G benzathine if the results of their evaluations were normal; of these, 2 (0.8%) had abnormal radiographic findings. Of the 166 infants born to adequately treated mothers with appropriately falling serologic titer levels, 1 (0.6%) had abnormal radiographic findings (P=.99 between groups). The results of the long-bone radiographs did not alter management for any of the 853 infants who were evaluated for congenital syphilis. CONCLUSIONS: Long-bone radiographic findings, often abnormal in symptomatic infants, do not differentiate between active infection and past infection. The use of long-bone radiographs should be reconsidered in the routine evaluation of infants for congenital syphilis.

Bone and Bones↗

Future human bone research in space.

Skylab crewmembers demonstrated negative calcium (Ca) balance reaching about -300 mg/day by flight day 84. Limited bone density (BMD) measurements documented that bone was not lost equally from all parts of the skeleton. Subsequent BMD studies during long duration Russian flights documented the regional extent of bone loss. These studies demonstrated mean losses in the spine, femur neck, trochanter, and pelvis of about 1%-1.6% with large differences between individuals as well as between bone sites in a given individual. Limited available data indicate postflight bone recovery occurred in some individuals, but may require several years for complete restoration. Long duration bedrest studies showed a similar pattern of bone loss and calcium balance (-180 mg/day) as spaceflight. During long duration bedrest, resorption markers were elevated, formation markers were unchanged, 1,25 vitamin D (VitD) and calcium absorption were decreased, and serum ionized Ca was increased. Although this information is a good beginning, additional spaceflight research is needed to assess architectural and subregional bone changes, elucidate mechanisms, and develop efficient as well as effective countermeasures. Space research poses a number of unique problems not encountered in ground-based laboratory research. Therefore, researchers contemplating human spaceflight research need to consider a number of unique problems related to spaceflight in their experimental design.

Animals↗

[Criminal law problems in forensic medicine].

This paper first goes into cases of medical malpractice proceeding from the definition of the subject (forensic medicine). Among the material examined by the author lapses were to be assumed in 6.9% of the cases. A forensic autopsy can, however, also be of significance in countering false accusations. Forensic autopsies are regulated by Sect. 87 of the German Code of Criminal Procedure. Clinical autopsies are performed in Berlin in conformity with the Autopsy Act of 1996. Therapeutic removal of tissue is, moreover, also regulated by the Autopsy Act. Last year's Grafting Act, on the other hand, is Federal Law. Another act promulgated in 1997 has likewise provoked considerable controversial debate: viz. the Criminal Proceedings Amendment Act--keyword: DNA analysis/genetic fingerprint. And, finally, the paper also goes somewhat deeper into the introduction of breath-alcohol tests as evidence admitted in court. Further points discussed: reports prepared in connection with trials involving shootings along the Berlin wall, reports drawn up in connection with matters involving the abuse of anabolic substances by competitive athletes in the German Democratic Republic, reports on former GDR functionaries pertaining to their fitness to plead in court or to undergo detention. To conclude with, the question, whether evidence obtained by coerced vomiting can be used in court, is also discussed (drug couriers).

Autopsy↗

On the temporal onset of postmortem animal scavenging. "Motivation" of the animal.

During an initial investigation, postmortem scavenging by pets (dogs, cats, etc.), which sometimes occurs, may sometimes lead to the suspicion that a crime has been committed. In most cases however, the death was due to natural causes. The time of the onset of postmortem scavenging by animals can often not be exactly determined because the interval between the time of death and discovery of the body is usually considerable. In this paper we deal with the case of a 31-year-old man, who committed suicide by shooting himself in the mouth and whose face exhibited extensive postmortem animal bite marks caused by the victim's Alsatian, which must have occurred during the 45 minute period between the fatal shot and the discovery of the body. Hunger, frequently discussed as a reason for postmortem animal mutilating injuries, could not have been responsible for the injuries in this case. In the room where the victim was found, there was also a bowl with sufficient dog food and while being transported to an animal sanctuary in a police van the dog vomited about 400 g of dog food as well as human tissue.

Adult↗

Self-implanted subcutaneous penile balls--a new phenomenon in Western Europe.

The subcutaneous self-implantation of spherical objects in the penis is a well-known practice among members of the Yakuza in Japan but this phenomenon has not previously been described in the Western world. However, recently there were two cases in Berlin of young Eastern Europe men in whom implanted penile balls as in the Yakuza were found at autopsy. Investigations in Russia revealed that this phenomenon is typically encountered there among prisoners and in certain army units. In addition to the feeling of belonging to a specific group, increased sexual confidence is one major reason for these implantations that are usually performed under primitive conditions.

Adult↗