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Analysis of short tandem repeat (STR) polymorphisms by the powerplex 16 system and capillary electrophoresis: application to forensic practice.

Allele and genotype frequencies for 15 short tandem repeat (STR) polymorphisms--D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA--in a Japanese population were estimated. No deviations of the observed allele frequency from Hardy-Weinberg equilibrium expectations were found for any of the systems studied. Between 2 new pentanucleotide STR loci, Penta E and Penta D, for which there is only limited data regarding the allelic distribution in Japanese, the Penta E locus was found to be highly polymorphic and exhibited a tri- or tetra-modal distribution pattern having allelic peaks with 5, 11, 15 and 20 repeats. The distribution was significantly different from that of the other ethnic groups. Statistical parameters of forensic importance, the power of discrimination (PD), observed and expected heterozygosity values (H), polymorphism information content (PIC), power of discrimination (PD), matching probability (pM), power of exclusion (PE), and typical paternity index (PI), were calculated for the loci. These parameters indicated the usefulness of the loci in forensic personal identification and paternity testing among Japanese. The systems Penta E, FGA, D18S51 and D8S1179 were the most informative. This method was successfully applied to forensic personal identification and paternity testing among Japanese, thereby confirming its efficacy for forensic practice.

Adult↗

A mathematical model of phytochrome - the receptor of photomorphogenetic processes in plants.

A mathematical model of the phytochrome pigment system is considered, the parameters of which are determined by solving the problem of identification on the basis of the dynamic characteristics of the photoreceptor obtained experimentally. The model is based on two photochemical and four dark reactions occurring in the phytochrome system. A study of the model permitted establishing the dynamics of processes in the photoreceptor and determining the relation between the behavior of the active form of phytochrome and the intensity and spectral distribution of light. The results of the investigation allows explaining of the high-energy reaction of photomorphogenesis as a consequence of the dynamics of phytochrome processes.

Darkness↗

Benzo[a]pyrene and zinc solubilization by digestive fluids of benthic invertebrates--a cross-phyletic study.

Contaminant bioavailability via digestive exposure was examined for 18 species of marine benthic invertebrates, using incubation of digestive fluids with sediments that were spiked with either radiolabeled benzo-[a]-pyrene (BaP) or zinc. Interphyletic trends in contaminant solubilization were compared with measures of digestive biochemistry, including enzyme activities, surfactancy, pH, and fluid phase organic carbon, amino acids, and lipids. Contaminant solubilization ranged from values equal to that of a seawater control to as much as an order of magnitude higher but were lower than those obtained with commonly used chemical extractants. Digestive fluids from echinoderms and a cnidarian tended to be relatively weak, those from polychaetes and echiurans were relatively strong, and those from taxa such as sipunculans and mollusks were intermediate. These trends correlated strongly with concentrations or activities of digestive biochemicals but not with pH. These correlations are consistent with previous work on mechanisms of digestive solubilization of polycyclic aromatic hydrocarbons (PAH) and metals, though strong covariance among digestive parameters does not allow this approach to be used for identification of specific mechanism(s).

Animals↗

[Neurostimulation of the recurrent laryngeal nerve--a routine method in thyroid gland surgery?].

INTRODUCTION: Thyroid operations belong to the most frequent procedures in Germany (100,000/year). An important quality parameter is the incidence of postoperative recurrent nerve paralysis. Intraoperative identification by visualization of the nerve with a paralysis rate of 1% is the present gold standard in dedicated centers. PROBLEM: Can this results be further improved by use of an intraoperative neuromonitoring system (NM). RESULTS: The use of NM is helpful in difficult situations (recurrent goiter, advanced carcinoma, anatomic variants), but a quality improvement is not yet proven. CONCLUSION: NM can not replace the current nerve identification by meticulous preparation of anatomic structures. It should be used at the discretion of the operative surgeon.

Electrodiagnosis↗

The prognostic value of measuring the gross linear radial growth of pulmonary metastases and primary pulmonary cancers.

The gross rates of growth of pulmonary cancers and pulmonary metastases may be reduced to clinically useful nomograms and graphs. The constructs are feasible because most neoplasms growing in the lung are observed only during a limited segment of their life history, often being observed too few times to permit the identification of the growth curve of best fit. Consequently, the parameter that can be calculated most quickly, namely linear growth rate in mm./day, may be most useful. The linear radial growth rates are plotted against observed survival. The nomograms permit easy approximation of the volume doubling time and the exponential radial growth rate in mm./mm./day. The mean of the log normal frequency distributions of doubling times for common primary and metastatic cancers found growing in the lung is plotted on one nomogram to put the information in perspective. The more widespread reporting and tabulation of such data should lead to a highly useful kinetic staging and treatment evaluation system.

Cell Division↗

Dialysis for everybody? At any cost?

During the last fifty years medicine has made enormous progress. However the "mechanical disease model" has introduced the concept of disease as a biological disorder and, at the same time, has shifted the objective of the doctor's action: the patient is identified with the disease and the latter being curable, there are no limits to the doctor's action. This behaviour has two different implications: one is referred to the tremendous increase of the expenditure and the second is related to the changes in death's physiognomy. Today death is no longer a moment, but a process whose practical outcome is the dilution (from hours to months) of the boundary between life and death. Equity is one of the main principles of every health systems: all the members of a community should have equal opportunities to receive medical treatment. Every year approximately 1250 million Euros (2% of the total health expenditure) are spent in Italy for nearly 41,000 patients on chronic dialysis. In terms of macro economy and of balanced health policy, no ethical principles can justify the absorption of such a huge quantity of resources by such a small number of patients. We must establish some rules, but it is obvious that such rules cannot be based on the identification of criteria that exclude patient groups based on statistical parameters, and on the sum of risk factors. Viceversa, the exclusion and/or withdrawal from RRT must depend on the possibilities of individual patients to maintain the essential characteristics of human beings or on the patient's opinion that there is a lack of proportion between means and results. Doctors cannot presume that the best solution coincides with the extension of patients' life. Their assistance must not aim at mere survival neglecting the quality of life. In order to start an in depth discussion, solid ethical and methodological references can be found in the "Clinical Practice Guidelines on Shared Decision-Making in the Appropriate Initiation of and Withdrawal from Dialysis". This topic can no longer be postponed. Should the nephrological community be unable to find a shared basis for discussion beyond hypocrisy, the valuable doctor-patient relationship (which is vital for all medical procedures) will be replaced by the "taxpayer-mediated" approach. In this case, following the principles of social good, the political community will compel doctors to mediate a conflict between collective interests and individual interests, and doctors will no longer be able to act in compliance with the ethical principles of "avoiding harm".

Humans↗

LH levels in women with polycystic ovarian syndrome: have modern assays made them irrelevant?

OBJECTIVE: To determine whether using newer monoclonal rather than polyclonal assays for measuring luteinising hormone (LH) alters the predictive value of LH and LH/follicle-stimulating hormone (FSH) ratios for polycystic ovarian syndrome. DESIGN: Prospective cohort study. SETTING: Fertility and Reproductive Endocrinology Clinic within a New Zealand Teaching hospital. POPULATION: Seventy-eight women presenting with oligomenorrhoea or hirsutism and polycystic ovaries on pelvic ultrasound and 59 volunteer controls with ultrasonically normal ovaries and a regular menstrual cycle. METHODS: Serum LH concentrations were measured using a polyclonal radio-immunoassay (Amerlex-M, Johnson & Johnson) and two monoclonal immunometric assays (Immulite, DPC; Cobas Core, Hoffman La Roche). The proportion of women with an elevated serum LH concentration in each group was calculated using both current local laboratory reference intervals and a new reference range derived from our control group. The LH/FSH ratios for women in both groups were also calculated using the three different LH assays. MAIN OUTCOME MEASURES: LH concentrations and LH:FSH ratios measured using polyclonal and monoclonal immunoassays. RESULTS: Using the local laboratory normal range, a significantly higher proportion of women had an elevated LH when measured with a polyclonal assay (23.1%) than when measured with a monoclonal assay (12.8% Core, 6.4% Immulite) (P < 0.05). LH/FSH ratios were significantly lower when monoclonal assay was used and receiver-operator characteristic curves suggest that LH/FSH ratios of 1 or lower provide the most reliable separation of women with polycystic ovarian syndrome from controls when these assays are used. CONCLUSIONS: Clinicians should be aware that the use of monoclonal LH assays will result in significantly lower measured LH levels and LH/FSH ratios in women with polycystic ovarian syndrome than previously used polyclonal assays. Account should be taken of the assay type used, when using endocrinological parameters in the diagnosis of polycystic ovarian syndrome, or the identification of women who have LH hypersecretion.

Adult↗

Pupillometry in the detection of concomitant drug use in opioid-maintained patients.

Pupillometry and ocular response measures are sensitive to a variety of acutely administered drugs and as such are useful for drug detection and fitness-for-duty applications. The utility of pupillometry to complement urine testing in methadone clinics, where there is considerable non-therapeutic drug use, has not been tested. A video-based pupillometer (FIT 2000) was evaluated in 37 opioid-maintained patients. Three times a week they provided urine samples and pupillometry measures of: initial diameter (ID) in mm; constriction amplitude (CA) in mm; constriction latency (CL) in msec; and saccadic velocity (SV) in mm/sec. Analysis of the success rates indicated that 92.9% of subjects obtained an acceptable reading, 59% on the first attempt. Low variability in pupillary parameters on drug-free days are necessary for effective identification of concomitant drug use. The variability (standard deviation) of ID (0.51 vs. 0.68), CA (0.12 vs. 0.27) and SV (7.2 vs. 11.1) increased on days when the urine was positive for abused drugs compared with drug-free urine days in subjects (n = 6). Subjects who were always drug-free (n = 4) had lower variability than those who always had urine positive for additional drugs (n = 20). These preliminary results suggest that pupillometry may be useful to verify concomitant drug use in a methadone-maintained population. Successful implementation of the methodology could reduce costly and intrusive urine testing.

Adult↗

[A definition of the nomenclature of allele variants and a description of allele polymorphism within a molecular-genetic individualization system based on the pentanucleotide tandem replication of HUMCD4].

While analyzing the available published data, we found significant differences in definition of alleles of the HUMCD4 polymorphic chromosome locus. It is an obstacle for comparing the expertise results obtained while using the locus as molecular individualization system in different laboratories and, as a consequence, it hinders the use of the said marker in building up a reference database. The structure of the HUMCD4 locus was analytically investigated and the distribution of the locus alleles was systemized in a sample of 407 persons (citizens of Russia who are not blood relatives) within the present case study for the purpose of a detailed definition of its allele's characteristics. We worked out recommendations related with the nomenclature standardization of alleles of the HIMCD4 locus and specified the main population features of the locus polymorphism on the bases of the studied sample of Russia's citizens. The results can be used as reference parameters in interpreting the findings of the molecular-genetic identification expertise and examinations and in building up databases.

Alleles↗

[Potential roles of preoperative upper airway radiographs in planning of perioperative airway management].

Majority of severe anesthetic complications result from airway difficulties. Among the airway difficulties, difficult mask ventilation is a key critical condition in the currently proposed difficult airway algorithms, and is probably the most life-threatening event. Presence of severe obstructive sleep apnea may indicate potential difficulty in mask ventilation during anesthesia induction. Lateral neck radiographs for patients with suspected airway difficulties may provide useful information for identification of potential patients with difficult mask ventilation. Among the parameters measured by the radiographs, I recommend anesthesiologists to measure distance between the hyoid bone and mandibular plane, which possibly reflects anatomical balance of the upper airway maintenance.

Diagnostic Techniques, Respiratory System↗

[Audiogram-analogue representation of the vestibular reaction to caloric stimulation (author's transl)].

A new diagram with audiogram-like presentation of the vestibular reaction to caloric stimulation is proposed, which facilitates the identification of typical vestibular disorders. Spontaneous nystagmus with the relevant parameters is entered in the chart. The diagram can be used for any parameter of the reaction, such as frequency, slow phase velocity or total amplitude in a defined period of time, e.g. 30 sec of maximal reaction.

Adult↗

Epidemiology of acute myelogenous leukemia.

The epidemiologic literature suggests that environmental exposures, familial susceptibility, and cytogenetic changes affect AML risk in childhood and adulthood. Unfortunately, many studies are limited by inadequate sample sizes, imprecise case definition, or inadequate exposure measurement. Few studies have singled out AML alone, either because of insufficient numbers or because methods of case ascertainment made it difficult to distinguish specific cell types. Studies of total leukemia or all acute leukemias offer insights into potential risk factors for AML, but may also be misleading in instances when few AML patients were actually included. Future studies should include adequate numbers of patients with AML. At the same time, further refinement of case definition through parameters such as specific cytogenetic changes may make risk factor identification in epidemiologic studies more likely.

Adult↗

[Operative assessment of the influenza situation based on a complex accounting of standardized indices of incidence and data on rapid diagnosis].

The paper described a method allowing most objective and operative evaluation of the influenza situation in the autumn-winter period, the detection of the onset of influenza epidemic in a given population area, and characterization of the intensity of the epidemic. The development of a more accurate method of operative evaluation of the influenza situation is necessary because influenza is one of widely prevalent virus diseases which still plays a significant role in human pathology and simultaneously takes away from productive labor tremendous numbers of workers. Follow-up of the incidence levels is based on the idea of comparison of the actual data with standardized parameters. These parameters (incidence at the start week, the pace of epidemic increase, the critical seasonal coefficient) are calculated by weekly data of the basic period for a number of years for each town under study on the basis of comparison with the mean minimal level of influenza and ARD incidence (summer normal level) and also the use of mathematical statistics apparatus. To establish epidemiologically unfavourable situation it is necessary that operatively estimated current parameters (analogous with pre-calculated standardized ones) be equal to or exceeding the standardized parameters. The methods of rapid diagnosis are used additionally for identification of the etiology of the starting outbreak or epidemic. The use of the developed methods is exemplified in the paper by practical estimates of the influenza situation in Moscow in the seasons of 1983-1984 and 1984-1985.

Disease Outbreaks↗

[Systematic aspects of roentgen identification--practical methods and new aids].

Radiology plays an important role in the identification of unknown corpses. Positive radiographic identification by comparison with ante-mortem films is an established technique in this setting. The value of identification depends on the ante- and post-mortem processing parameters which should be equal. A film-holder which is normally used in clinical dentistry has been modified for forensic investigation. The difficulties in placing and retaining intra-oral films in the mouths of deceased persons are minimised by the use of this holder. New equipment for film marking is described and different exposition times recording to the thickness of covering soft tissues were developed. Mistakes in the developing process are discussed. A forensic case underlines the advantages of systematic investigation.

Accidents, Aviation↗

Performance enhancement for audio-visual speaker identification using dynamic facial muscle model.

Science of human identification using physiological characteristics or biometry has been of great concern in security systems. However, robust multimodal identification systems based on audio-visual information has not been thoroughly investigated yet. Therefore, the aim of this work to propose a model-based feature extraction method which employs physiological characteristics of facial muscles producing lip movements. This approach adopts the intrinsic properties of muscles such as viscosity, elasticity, and mass which are extracted from the dynamic lip model. These parameters are exclusively dependent on the neuro-muscular properties of speaker; consequently, imitation of valid speakers could be reduced to a large extent. These parameters are applied to a hidden Markov model (HMM) audio-visual identification system. In this work, a combination of audio and video features has been employed by adopting a multistream pseudo-synchronized HMM training method. Noise robust audio features such as Mel-frequency cepstral coefficients (MFCC), spectral subtraction (SS), and relative spectra perceptual linear prediction (J-RASTA-PLP) have been used to evaluate the performance of the multimodal system once efficient audio feature extraction methods have been utilized. The superior performance of the proposed system is demonstrated on a large multispeaker database of continuously spoken digits, along with a sentence that is phonetically rich. To evaluate the robustness of algorithms, some experiments were performed on genetically identical twins. Furthermore, changes in speaker voice were simulated with drug inhalation tests. In 3 dB signal to noise ratio (SNR), the dynamic muscle model improved the identification rate of the audio-visual system from 91 to 98%. Results on identical twins revealed that there was an apparent improvement on the performance for the dynamic muscle model-based system, in which the identification rate of the audio-visual system was enhanced from 87 to 96%.

Adult↗

Improvement of an in-gel tryptic digestion method for matrix-assisted laser desorption/ionization-time of flight mass spectrometry peptide mapping by use of volatile solubilizing agents.

The combination of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS), in-gel enzymatic digestion of proteins separated by two-dimensional gel electrophoresis and searches of molecular weight in peptide-mass databases is a powerful and well established method for protein identification in proteomics analysis. For successful protein identification by MALDI-TOF mass spectrometry of peptide mixtures, critical parameters include highly specific enzymatic cleavage, high mass accuracy and sufficient numbers and sequence coverage of the peptides which can be analyzed. For in-gel digestion with trypsin, the method employed should be compatible both with enzymatic cleavage and subsequent MALDI-TOF MS analysis. We report here an improved method for preparation of peptides for MALDI-TOF MS mass fingerprinting by using volatile solubilizing agents during the in-gel digestion procedure. Our study clearly demonstrates that modification of the in-gel digestion protocols by addition of dimethyl formamide (DMF) or a mixture of DMF/N,N-dimethyl acetamide at various concentrations can significantly increase the recovery of peptides. These higher yields of peptides resulted in more effective protein identification.

Amino Acid Sequence↗

A multidisciplinary selection model for youth soccer: the Ghent Youth Soccer Project.

OBJECTIVES: To determine the relationships between physical and performance characteristics and level of skill in youth soccer players aged 12-16 years. METHODS: Anthropometry, maturity status, functional and sport-specific parameters were assessed in elite, sub-elite, and non-elite youth players in four age groups: U13 (n = 117), U14 (n = 136), U15 (n = 138) and U16 (n = 99). RESULTS: Multivariate analyses of covariance by age group with maturity status as the covariate showed that elite players scored better than the non-elite players on strength, flexibility, speed, aerobic endurance, anaerobic capacity and several technical skills (p<0.05). Stepwise discriminant analyses showed that running speed and technical skills were the most important characteristics in U13 and U14 players, while cardiorespiratory endurance was more important in U15 and U16 players. The results suggest that discriminating characteristics change with competitive age levels. CONCLUSIONS: Characteristics that discriminate youth soccer players vary by age group. Talent identification models should thus be dynamic and provide opportunities for changing parameters in a long-term developmental context.

Adolescent↗

The utility of newly derived Doppler echocardiographic variables in the diagnosis and management of patients with heart failure.

Doppler echocardiography, because of its noninvasive nature, is an ideal tool to evaluate patients with heart failure (HF), offering the potential to improve early identification and management of these patients. Although traditional Doppler indices have allowed characterization of diastolic filling abnormalities associated with various HF states, important limitations are recognized. More refined Doppler techniques such as analysis of color M-mode flow propagation velocity, tissue Doppler imaging, and strain parameters can add to the ability of the noninvasive laboratory to improve the identification and management of this group of patients. These newer techniques as well as the traditional Doppler assessment of transmitral left ventricular inflow and pulmonary venous inflow velocities are reviewed as methods to improve the diagnosis and management of patients with HF.

Blood Flow Velocity↗