bluuebunny/crossref_metadata_2025_split huggingface dataset:
Typing of XY (male) Genotype from Malignant Neoplastic Tissue by the Amelogenin-based Sex Test
Authors: Vauhkonen H , Hedman M , Vauhkonen M , Sipponen P , Sajantila A 
Published: May 2004

AbstractDNA profiling of a cancer tissue can be problematic because of genomic instability. Here we have analyzed gastrointestinal cancer specimens from 46 males, of which seven (15%) showed aberrations in determination of gender by the widely used amelogenin test. The X-type amelogenin allele in all cases remained intact. All male tumor samples showing frequent autosomal loss of heterozygosity had a decreased signal of the Y allele from the amelogenin marker. When tested with an alternate set of primers for the amelogenin locus, the Y-type allele showed loss of heterozygosity in the same seven cases. However, when amplified with 15 Y-specific STR primers, all the cancerous tissue Y chromosomes seemed to be intact. These results indicate when malignant neoplastic tissue specimens are used, that amelogenin-based gender determination should be carefully interpreted.
The Extraction and Infrared Identification of Gamma-Hydroxybutyric Acid (GHB) from Aqueous Solutions
Authors: Chappell JS , Meyn AW , Ngim KK 
Published: May 2004

Abstract
The chemical analysis of gamma-hydroxybutyric acid (GHB) in most forensic laboratories is complicated by the highly polar nature of the GHB molecule, which makes it unsuitable for direct analysis by gas chromatography (GC). Consequently, a popular analytical approach is to convert GHB into the corresponding lactone or a derivative compound that is then identified by mass spectrometry employed in conjunction with GC (GC/MS). An alternative approach is presented here where GHB may be isolated as a free acid specie from complex aqueous solutions employing a liquid-liquid extraction technique. This approach can yield a relatively pure residue of GHB that presents an infrared transmission spectrum that is sufficiently distinct for identification purposes. Infrared spectroscopy (IR) is a very popular technique that is available to most crime laboratories. The liquid-liquid extraction behavior of GHB is examined in detail and the uniqueness of the infrared spectrum is discussed.
Accurate STR Allele Designations at the FGA and vWA Loci Despite Primer Site Polymorphisms
Authors: Hendrickson BC , Leclair B , Forrest S , Ryan J , Ward BE , Petersen D , Kupferschmid TD , Scholl T 
Published: May 2004

Abstract
Polymerase chain reaction (PCR)-based STR DNA typing systems are used extensively in the field of human identification. Under optimal PCR conditions, the amplicon yield from both alleles of an STR locus is expected to be approximately equivalent. However, it is reasonable to expect that rare genomic sequence polymorphisms will co-localize with well-designed primer sets and induce allele imbalance or “dropouts”. Two samples were identified in the course of genotyping thousands of individuals with AmpF/STRR® Profiler Plus™ that showed strong disparity in amplitude peak height of heterozygous peaks at the loci vWA and FGA. These samples were reamplified at reduced annealing temperature in an attempt to balance the peak heights. Nucleotide sequencing documented polymorphisms at the PCR primer binding sites of the affected alleles. The results indicate that reducing the annealing temperature to improve primer-binding efficiency at the mismatch and employing an alternative multiplex enhanced the data from both samples. Reducing annealing temperatures could provide a simple general solution to improving data quality for samples where polymorphisms are suspected to cause allele imbalance. Finally, we report on additional polymorphisms surrounding the vWA locus in a genetically diverse population.
Relationships Between the Deinstitutionalization of Healthcare for Patients with Mental Disorder, Substance Abuse, and Isolated Death
Authors: Thiblin IB , Fugelstad AB , Leifman AG , Romelsjö AP , Agren GS , Sorimachi Y 
Published: May 2004

Abstract
Isolated death (ID) (i.e., dying alone without anyone noticing for several days) has been suggested to be related to social isolation, mental disorder, and alcohol and/or drug abuse. A major transfer of patients with a mental disorder and/or alcohol and/or drug abuse from institutionalized care to treatment as outpatients has been enacted in Sweden during the past decade. On the basis of the assumption that such deinstitutionalization is likely to result in increased social isolation, our working hypothesis was that the incidence of ID among patients belonging to these categories has increased in Sweden. The present study involved all deaths subjected to a medicolegal examination in Stockholm County (with a population of approximately 1.9 million people) during the period 1992–2000. The pattern of ID (defined as cases involving a postmortem delay between death and discovery of at least 1 week), as well as the incidence of fatalities subjected to medicolegal examination with a record of mental disorder and/or alcohol and/or drug abuse was evaluated. Throughout this period, the proportion of the deceased with a record of a mental disorder was high among all the cases examined and higher still among the cases of ID, especially among those younger than 65 years of age. There was a rather limited increase in the incidence of ID and a much more pronounced increase in the number of former psychiatric patients whose deaths were subjected to medicolegal examination, but did not satisfy the criteria for ID. A record of alcohol and/or drug abuse was more common than a diagnosis of mental disorder among both the males and females who died at an age of less than 65, with a clear difference between the cases of ID and non-ID in the case of men. There was no significant increase in incidence over the course of this study. Thus, this study reveals a slight increase in the number of IDs and a more pronounced increase in the number of medicolegal examination of non-IDs of individuals with a record of a mental disorder.
Methadone-Related Deaths in Palm Beach County
Authors: Wolf BC , Lavezzi WA , Sullivan LM , Flannagan LM 
Published: May 2004

Abstract
The authors reviewed cases investigated by the Palm Beach Medical Examiner's Office in which postmortem toxicologic studies indicated the presence of methadone over the period from 1998 to 2002, to examine the role of the drug in these deaths. There were 139 methadonepositive cases, including 75 in which the death was attributed to combined drug toxicity and 23 to methadone toxicity alone. Methadone was most frequently used in conjunction with other prescription or illicit drugs, most commonly benzodiazepines and/or cocaine. Therewas considerable overlap in the postmortem blood methadone concentrations among the groups. Concentrations ranged from 0.114 mg/L–1.939 mg/L (mean .0559 mg/L) in cases where death was attributed to methadone toxicity; 0.050 mg/L–1.903 mg/L (mean 0.411 mg/L) in cases of combined drug toxicity; 0.069 mg/L–0.644 mg/L (mean 0.224 mg/L) in deaths attributed to other drugs; 0.062 mg/L–1.090 mg/L (mean 0.344 mg/L) among deaths attributed to natural causes and 0.072 mg/L–2.7 mg/L (mean 0.605 mg/L) among deaths due to trauma. The concentrations of methadone detected indicate that it may not be possible to establish a lethal methadone range because some deaths occurred at methadone concentrations below previously reported lethal ranges, and because of the presence of other drugs. Determining the cause of death in methadone-positive cases necessitates correlation with autopsy results and investigative findings.
STR Typing of Human DNA from Fly Larvae Fed on Decomposing Bodies
Authors: Zehner R , Amendt J , Krettek R 
Published: May 2004

Abstract
In homicides with entomological evidence, it may be important to prove the presumed association of fly larvae to a corpse, especially if it is in doubt whether all maggots used for entomological expertise developed and fed on it. The present study demonstrates for the first time the possibility of analyzing human microsatellite DNA present in the digestive tract of necrophagous larvae that fed on decomposed bodies with a postmortem interval up to four months. The obtained human STR profiles support the association of a maggot to a specific corpse. In addition, the identification of the host species (e.g., animal source like pig) can be achieved by analysis of the cytochrome b gene.
Maggots were collected from 13 corpses after various postmortem intervals and STR typing and HVR amplifications were performed using their crop contents. In seven cases, a complete STR profile was established, in two cases, an incomplete set of alleles was obtained, and in four cases, STR typing was not successful. HVR analysis was successful in all cases except one. The time of storage of the maggots and the length of the postmortem interval up to 16 weeks appeared to have no particular influence on the quality of the results.
Mitochondrial DNA and STR Analyses of Maggot Crop Contents: Effect of Specimen Preservation Technique
Authors: Linville JG , Hayes J , Wells JD 
Published: May 2004

Abstract
DNA analysis of maggot crop contents can be used to identify a missing body or aid entomologists with interpreting evidence used for PMI estimations. Entomological evidence is often collected and preserved to keep identifiable external features intact. The preservation methods currently in use may not be suitable for preserving DNA in the maggot crop for later analysis. In this study, carrion maggots raised on human tissue were preserved under the following 8 preservation conditions: no fluid at -70°C, no fluid at 4°C, no fluid at 24°C, 70% ethanol at 4°C, 70% ethanol at 24°C, 95% ethanol at 24°C, Kahle's solution at 24°C and formaldehyde at 24°C. Maggots were dissected following 2 weeks, 8 weeks and 6 months of preservation. The maggot crops were extracted, human DNA was quantitated, and an attempt was made at amplifying mitochondrial DNA (mtDNA) and short tandem repeat (STR) loci. Both mtDNA and STRs were successfully amplified from maggots stored in ethanol or without any preservation fluid. Formalin-containing preservation solutions reduced the recovery of DNA. The best results were observed from maggots stored without any preservation fluid at -70°C.
Unusual Association of Three Rare Alleles and a Mismatch in a Case of Paternity Testing
Authors: Turchi C , Pesaresi N , Alessandrini F , Onofri V , Arseni A , Tagliabracci A 
Published: May 2004

Abstract
This study reports a paternity case analyzed by the AmpℓSTR Identifiler Kit (AB) in which father and daughter shared three rare alleles for D19S433, D18S51 and TH01 microsatellites. The case also showed an apparent exclusion, due to a mutation at the D3S1358 microsatellite. Sequencing analysis was performed to assess the size of the rare alleles and to establish their structure, which revealed some molecular variations in regions flanking the motif repeats.
Application of Spectral Libraries for Characterization of Oxidizers in Post-Blast Residues by Electrospray Mass Spectrometry
Authors: Gapeev A , Yinon J 
Published: May 2004

Abstract
The goal of this paper is to demonstrate that electrospray mass spectrometry when used with spectral libraries becomes a useful method for rapid identification of inorganic oxidizers commonly present in commercial and improvised explosives.
Electrospray ionization mass spectra (ESI-MS) of oxidizers reveal a series of characteristic cluster ions. Such a set of cluster ions can be regarded as a “fingerprint” of a particular oxidizer. With the aid of a spectral library, tentative identification of inorganic oxidizer becomes automated and an easy-to-implement process. The oxidizer identity may be further confirmed by using tandem mass spectrometry (MS/MS). Because it is not necessary to separate the components before analysis, results become available in real time. Little sample consumption and the ease of sample preparation should also be noted. The methodology can be readily employed on various ESI-MS systems that are already in use in analytical laboratories. This is another important benefit as the ESI-MS instrumentation is becoming increasingly common in forensic laboratories.
Dr. Walter C. McCrone's Contribution to the Characterization and Identification of Explosives
Authors: Hopen TJ 
Published: May 2004

Abstract
Dr. McCrone was an amazing individual, possessing many talents and having many interests. He especially loved applying polarized light microscopy (PLM) to answering the question-at-hand and solving problems.He appliedPLMto many different fields including the identification of air pollution particles, asbestos identification, art conservation, pharmaceuticals, industry problems and forensic sciences. A field that I believe he enjoyed the most was the characterization and identification of explosives. Throughout his life he worked on, gave presentations and published articles on the characterization and identification of explosives. Also, he encouraged other scientists to give presentations and publish on the subject by providing “behind the scene” advice and/or be a co-author on a paper. He unselfishly taught others how to apply PLM and incorporate this invaluable tool into their analytical scheme.
Metal Content in River Suspended Particulate Matter: Data on Po River
Authors: Blo Gabriella , Conato Chiara , Contado Catia , Fagioli Francesco , Vaccaro Carmela , Dondi Francesco 
Published: May 2004

AbstractThe present study summarizes the last ten years of literature on heavy metal distribution in Suspended Particulate Matter (SPM) and dissolved phase in the Po River (Italy). The work compares different methodologies employed to collect, concentrate and fractionate the samples. The importance of metal speciation as a function of particle size is underlined and two approaches to metal speciation in the colloidal fraction of Po River SPM are presented: Sedimentation Field‐Flow Fractionation (SdFFF) and pH‐dependent extractions. Finally, emphasis is placed on the need for comparison with a reference “natural background level” of the metal load in Po River particulate matter in order to determine the real human contribution to river pollution. The high values of some trace transition elements, such as Cr and Ni, have been compared with clay sediments around Ferrara and with bricks in historic buildings. The highly comparable natural concentration of these metals in Po fine sedimentary rocks and in historic brick buildings of Ferrara (XII‐XVI centuries) can provide information on natural geochemical anomalies.
Spectrophotometric Determination of Aluminium and Nickel
Authors: Carpani Irene , Scavetta Erika , Tonelli Domenica 
Published: May 2004

AbstractA simple spectrophotometric method, based on the complexes with xylenol orange (XO) and EDTA, is presented for the rapid determination of aluminium and nickel, respectively, in synthetic samples of hydrotalcite. The method only requires the solubilization in sulphuric acid of the inorganic material before the ligand addition. Under optimum conditions, the complexes Al‐XO and Ni‐EDTA showed maximum absorption at 554 nm and 380 nm, respectively. The method obeyed Beer's law in the concentration range 0.14‐1.8 μg mL‐1 of aluminium, and 30‐2730 μg mL‐1 of nickel. Molar absorptivities were 2.45×104 and 14.85 L mol‐1 cm‐1 while Sandell s sensitivities were 1.1×10‐3 and 3.9 μg cm‐1 for aluminium and nickel, respectively. The standard addition technique was used and the recoveries obtained revealed that the proposed procedure shows good accuracy.
Chromium Speciation by Surfactant Assisted Solid‐Phase Extraction and Flame Atomic Absorption Spectrometric Detection
Authors: Saber Tehrani Mohammad , Afshar Ebrahimi Arash , Rastegar Faramarz 
Published: May 2004

AbstractA new procedure has been developed for chromium speciation in aqueous solution by the use of micellar, ion‐association, solid‐phase extraction techniques (SPE) followed by flame atomic absorption spectrometry. The method was based on the use of C‐18 bonded phase silica SPE disks for retention of ion‐associated Cr(VI) with cetyl trimethyl ammonium bromide (CTAB), elution of the retained species and subsequent detection by flame atomic absorption spectrometry (FAAS). Cr(III) was oxidized by potassium persulfate to Cr(VI), then the total chromium was retained on the disk and determined by FAAS. The amount of Cr(III) was calculated by the difference between the total and Cr(VI) values. The calculated limit of detections (LOD) (based on 3σ) are 15 μg L‐1 and 20 μg L‐1 for Cr(VI) and Cr(III) respectively. No considerable interferences have been observed from other investigated anions and cations and the method has been successfully applied to water samples taken from the Karoon River in Khuzestan province.
Progressive age‐related development of Alzheimer‐like pathology in APP/PS1 mice
Authors: Trinchese Fabrizio , Liu Shumin , Battaglia Fortunato , Walter Sean , Mathews Paul M. , Arancio Ottavio 
Published: May 2004

AbstractIncreasing evidence points to synaptic plasticity impairment as one of the first events in Alzheimer's disease (AD). However, studies on synaptic dysfunction in different transgenic AD models that overexpress familial AD mutant forms of amyloid precursor protein (APP) and/or presenilin (PS) have provided conflicting results. Both long‐term potentiation (LTP) and basal synaptic transmission (BST) have been found to be both unchanged and altered in different models and under differing experimental conditions. Because of their more robust amyloid‐β (Aβ) deposition, double transgenic mice currently are used by several laboratories as an AD model. Here, we report that mice overexpressing APP (K670N:M671L) together with PS1 (M146L) have abnormal LTP as early as 3 months of age. Interestingly, reduced LTP paralleled plaque appearance and increased Aβ levels and abnormal short‐term memory (working memory). BST and long‐term memory (reference memory) are impaired only later (approximately 6 months) as amyloid burden increases. Aβ pathology across different ages did not correlate with synaptic and cognitive deficits, suggesting that Aβ levels are not a marker of memory decline. In contrast, progression of LTP impairment correlated with the deterioration of working memory, suggesting that percentage of potentiation might be an indicator of the cognitive decline and disease progression in the APP/PS1 mice. Ann Neurol 2004;55:801–814
Somatic mosaicism in FSHD often goes undetected
Authors: Lemmers Richard J. L. F. , van der Wielen Michiel J. R. , Bakker Egbert , Padberg George W. , Frants Rune R. , van der Maarel Silvère M. 
Published: May 2004

AbstractAutosomal dominant facioscapulohumeral muscular dystrophy (FSHD1A) is associated with contractions of the polymorphic D4Z4 repeat array on chromosome 4qter. The disease has a high frequency of new mutations of mitotic origin. Pulsed‐field gel electrophoresis–based studies show that mitotic mutations leading to somatic mosaicism occur equally frequently in patients and parents. Nevertheless, somatic mosaicism in FSHD is mainly reported in asymptomatic parents by applying standard Southern analysis after linear gel electrophoresis. Explaining this apparent discrepancy, we here demonstrate that somatic mosaicism in FSHD patients goes largely undetected using the standard diagnostic technique, indicating that linear electrophoresis is unsuitable to identify mosaic patients. As a consequence, the phenotype of mosaic patient's offspring will be underestimated, whereas the recurrence risk in the symptomatic mosaic individuals will be overestimated. Moreover, somatic mosaicism may partly explain the observation of anticipation in de novo kindreds. Therefore, clinicians should always consider pulsed‐field gel electrophoresis analysis in de novo FSHD families, in particular when the patient's phenotype is much milder than expected based on D4Z4 length proper.
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa‐responsive dystonia
Authors: Hwu Wuh‐Liang , Lu Mei‐Yi , Hwa Kuo‐Yuan , Fan Shu‐Wen , Lee Yu‐May 
Published: May 2004

AbstractUnstable GTP cyclohydrolase I (GCH) mutations in dopa‐responsive dystonia (DRD) can exert a dominant‐negative effect in the HeLa cell model, but in a batch of cells this effect could not be shown. Through differential display, we found a higher Hsc70 expression in the non–dominant‐negative cells. We further demonstrated that ectopic expression of Hsp40/Hsp70 stabilized the GCH mutant G201E. Moreover, Hsp90 inhibitor geldanamycin destroyed the wild‐type GCH level, and heat shock increased the synthesis of GCH protein. Therefore, the dominant‐negative effect produced by unstable proteins would be susceptible to the status of molecular chaperones, which could be the modifying genes and therapeutic targets for DRD and other genetic diseases. Ann Neurol 2004;55:875–878
Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation
Authors: Swoboda Kathryn J. , Kanavakis Emmanuel , Xaidara Athina , Johnson Justine E. , Leppert Mark F. , Schlesinger‐Massart Mylynda B. , Ptacek Louis J. , Silver Kenneth , Youroukos Sotiris 
Published: May 2004

AbstractAlternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2 locus could not be excluded failed to identify additional mutations. Ann Neurol 2004;55:884–887
Alzheimer: Positive Effekte von Fisch‐Verzehr und Lernen
Authors: Kriesten Klaus 
Published: May 2004

AbstractSowohl der Verzehr der insbesondere in Fisch enthaltenen Docosahexaensäure (DHA), als auch geistige Aktivität bis ins hohe Alter scheinen einen gewissen Schutz vor der Alzheimer‐Demenz zu bieten.
Die gründliche Vorbereitung, Teil 1
Authors: Debus‐Spangenberg Isolde 
Published: May 2004

AbstractDie Medienwissenschaftlerin und Karriereberaterin Isolde Debus‐Spangenberg gibt in BIUZ Tipps zu Jobsuche und Bewerbung. Den Anfang machten zehn allgemeine Karriere‐Tipps in Heft 2/2004, in dieser Ausgabe folgen konkrete Ratschläge, wo überhaupt interessante Stellenangebote für Biologen zu finden sind.
Changes in bone architecture in the femoral head and neck in osteoarthritis
Authors: Neilson Matthew , White Andrew , Malik Uzma , Morrison Elaine , McGill Paul E. , McDonald Stuart W. 
Published: May 2004

AbstractThis study analyses changes in the bony architecture of the femoral head and neck in osteoarthritis. Five osteoarthritic hips were obtained from female patients undergoing total hip replacement and were compared to non‐arthritic control specimens from the dissecting room. Analysis was carried out on a coronal bony slice of the femoral head and on a transverse section of the upper femoral neck. The results indicated that in the region of the compressive trabeculae the intertrabecular areas were generally smaller in the osteoarthritic specimens and that the inferior part of the cortex of the femoral neck had thickened. Our data thus quantified changes consistent with the thickening of compressive trabeculae reported by others and with thickening of the region of the femoral neck on which they converge. We found less trabecular bone in non‐weight‐bearing regions of the lower femoral head and in the medulla of the upper neck in the osteoarthritic specimens consistent with loss of tensile trabeculae. Scanning electron microscopy suggested that bone resorption activity was higher in the subchondral and non‐weight‐bearing regions of the osteoarthritic femoral heads than in the controls. Clin. Anat. 17:378–391, 2004. © 2004 Wiley‐Liss, Inc.