The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)
The relationship of attention-deficit/hyperactivity disorder (ADHD) to learning disorders was reviewed and included reading disability, mathematics learning disability, and nonverbal learning disability. Genetic, neuroimaging, and neuropsychological functioning were examined for each disorder, along with a discussion of any existing literature when ADHD co-occurred with the disorder. All the disorders were found to frequently co-occur with ADHD. A review of the underlying neuroanatomic and neurofunctional data found specific structures that frequently co-occur in these disorders with others that are specific to the individual diagnosis. Aberrations in structure and/or function were found for the caudate, corpus callosum, and cerebellum, making these structures sensitive for the disorder bu...
Exponentially growing biological and bioinformatics data sets present a challenge and an opportunity for researchers to contribute to the understanding of the genetic basis of phenotypes. Due to breakthroughs in microarray technology, it is possible to simultaneously monitor the expressions of thousands of genes, and it is imperative that researchers have access to the clinical data to understand the genetics and proteomics of the diseased tissue. This technology could be a landmark in personalized medicine, which will provide storage for clinical and genetic data in electronic health records (EHRs). In this paper, we explore the computational and ethical challenges that emanate from the intersection of bioinformatics and healthcare informatics research. We describe the current situation of the EHR and its capabilities to store clinical and ...
The success of monoclonal antibodies in clinical practice is dependent on good design. Finding a suitable target is the most important part as other properties of the antibody can be altered by genetic...Full Text Available
PurposeClinical trials have commenced to evaluate the feasibility of targeting malignant gliomas with genetically engineered cytolytic T-cells (CTLs) delivered directly...Full Text Available
Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases...Full Text Available
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available
SummaryBlastomycosis is a serious and potentially fatal infection by the thermally dimorphic fungus Blastomyces dermatitidis. PCR assays targeting the BAD-1 virulence...Full Text Available
Spontaneous mouse models of cancer show promise to more accurately recapitulate human disease and predict clinical efficacy. Transgenic mice or viral vectors have been required to generate spontaneous...Full Text Available
Clinical applications of genetic therapies, including delivery of short, interfering RNAs (siRNAs) for RNA interference (RNAi), are limited due to the difficulty of delivering nucleic acids...Full Text Available
PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available
Myelination is an important process in brain development, and delays or abnormalities in this process have been associated with a number of conditions including autism, developmental delay,...Full Text Available
Spondylarthritides (SpA) and inflammatory bowel disease (IBD) are idiopathic, chronic inflammatory disorders. Although they are very distinct and well-defined entities, there is clinical and genetic evidence supporting some degree of overlap between the pathogenesis of the two. Subclinical gut inflammation is present in up to two thirds of all SpA patients and can evolve into IBD. This subclinical gut inflammation has been shown to be strongly associated with joint inflammation, providing a clue for a common pathophysiologic background. Despite extensive research progress in the field over the past few years, many questions remain unanswered. In this paper, we focus on the clinical, genetic, and pathophysiologic overlap of SpA and IBD. Furthermore, we discuss some of the targets that may i...
The radiation dose to a series of adult and paediatric patients undergoing cardiac catheterisations and adults having percutaneous transluminal coronary angioplasty has been measured/determined directly using lithium fluoride thermoluminescent dosemeters and indirectly using an air ionisation chamber which indicated exposure-area product. Somatic and genetic risks are estimated from the dosimetry results. It is suggested that the magnitude of the radiation hazard is negligible compared with other clinical hazards associated with these procedures. (author).
This book contains 49 chapters. Some of the titles are: Molecular, Genetic, and Clinical Aspects of the HLA System; The Normal Immune Response; Significance of the ABO Antigen System; The Role of Dialysis in the Management of End-Stage Renal Disease; Access for Dialysis; Patient Selection for Renal Transplantation; The Living Donor in Kidney Transplantation; and Kidney Preservation by Cold Storage.
Two clinical strains of Escherichia coli (2138) and Enterobacter cloacae (7506) isolated from the same patient in France and showing resistance to extended-spectrum...Full Text Available
Objective: To compare pediatric patients with periventricular leukomalacia (PVL) with normal children by using diffusion tensor MR imaging. Methods: Diffusion tensor images were obtained in 15 pediatric patients with PVL and 15 age-matched normal children. Regions of interest were drawn to measure the fractional anisotropy (FA) in bilateral posterior limb of internal capsule, bilateral optic radiation, genu of corpus callosum, and splenium of corpus callosum. The values of PVL patients and normal children were compared using non-dependent samples T-test. Results: The FA values of regions of interest prescribed were significantly lower in PVL patients than in normal children (P<0.01). Conclusion: Diffusion tensor imaging may reveal retard of myelination of fiber tracts in PVL patients. It can be a potential tool in evaluating the brain development of children. (authors)
This book is an anatomical reference for cranial magnetic resonance imaging (MRI) studies in neonates and infants. It contains 122 clear, sharp MRI scans and drawings showing changes in the normal appearance of the brain and skull during development. Sections of the atlas depict the major processes of maturation: brain myelination, development of the corpus callosum, development of the cranial bone marrow, and iron deposition in the brain. High-quality scans illustrate how these changes appear on magnetic resonance images during various stages of development.
Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...
Resistance and tolerance are two types of host defense mechanisms that increase fitness in response to fungi. Several genetic polymorphisms in pattern recognition receptors, most remarkably Toll-like receptors (TLRs), have been described to influence resistance and tolerance to aspergillosis in distinct clinical settings. TLRs on dendritic cells pivotally contribute in determining the balance between immunopathology and protective immunity to the fungus. Epithelial cells also contribute to this balance via selected TLRs converging on indoleamine-2,3-dioxygenase (IDO). Studies in experimental hematopoietic transplantation confirmed the dichotomy of pathways leading to resistance and tolerance to the fungus providing new insights on the relative contribution of the hematopoietic/nonhematopoi...
Schizophrenia and bipolar disorder share genetic risk, brain vulnerability, and clinical symptoms. The ZNF804A risk variant, rs1344706, confers susceptibility for both disorders. This study aimed to identify neural mechanisms common to both schizophrenia and bipolar disorder through this variant's potential effects on cortical thickness, white matter tract integrity, and cognitive function. Imaging, genetics, and cognitive measures were ascertained in 62 healthy adults aged between 18 and 59 years. High-resolution multimodal MRI/DTI imaging was used to measure cortical thickness and major frontotemporal and interhemispheric white matter tracts. The general linear model was used to examine the influence of the ZNF804A rs1344706 risk variant on cortical thickness, white matter tract integrity, and cognitive measures. Individuals homozygous for the risk variant ('A' allele) demonstrated reduced cortical gray matter thickness ...
Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 (maximum recombination fraction [{theta}{sub max}] = .006) with the polymorphic marker D1S188. Our data demonstrate that STGD and fundus flavimaculatus are the same disorder clinically and genetically and provide further evidence for genetic homogeneity of this phenotype. Analysis of recombination on disease chromosomes placed the STGD gene within a 4-cM interval between markers D1S435 and D1S236. A physical map was constructed of a YAC contig flanking STGD, from markers D1S500 to D1S495, and includes the critical interval delineated by ...
Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) is a genetic disorder with autosomal dominance, variable penetrance, and an estimated prevalence of 1/10,000 inhabitants in France. Diagnosis is based on clinical criteria including epistaxis, telangiectasia, visceral manifestations, and familial occurrence. Pulmonary arteriovenous malformations, present in 15-33% of patients, are its primary visceral complications. The disease may be revealed by infectious and ischemic neurological manifestations due to paradoxical embolism. The high frequency of neurologic complications even in asymptomatic patients justifies systematic screening for pulmonary arteriovenous malformations. Treatment of these malformations is based on percutaneous transcatheter coil embolization of the feeding artery. Pulmonary arterial hypertension is rare in this disease. It may be due to systemic arteriovenous shunting in the liver, which increases cardiac ...
Abstract Male infertility continues to be a clinical challenge of increasing significance. While male factors such as decreased semen quality are responsible for 25% of all infertility issues, the etiology of suboptimal semen quality is poorly understood. Many physiological, environmental, and genetic factors have been implicated, including oxidative stress. Oxidative stress is induced by reactive oxygen species (ROS), or free radicals, and although ROS are required for critical aspects of sperm function, excessive levels of ROS can negatively impact sperm quality. The origin of ROS generation, and the etiologies of increased ROS in men with suboptimal sperm quality have only recently been elucidated, offering multiple targets for potential therapy. Here, we present a critical review of th...
Alzheimer's disease (AD) is the most common form of neurodegenerative disease. The vast majority cases of AD are sporadic, without clear cause, and a combination of environmental and genetic factors has been implicated. The hypothesis that homocysteine (Hcy) is a risk factor for AD was initially prompted by the observation that patients with histologically confirmed AD had higher plasma levels of Hcy, termed hyperhomocysteinemia (HHcy), than age-matched controls. Most evidence accumulated so far implicates HHcy as a risk factor for AD onset, but there are also conflicting results. In this review we summarize reports on the relationship between HHcy and AD from epidemiological investigations, including observational studies and randomized controlled clinical trials. We also examine recent i...
Objective: A growing body of data from genetic, immunological and clinical studies indicates an involvement of the immune system in the pathophysiology of schizophrenia and suggests that the modulation of the cytokine system by antipsychotics may be one cause for the improvement of psychotic symptoms. However, the influence of the typical antipsychotics chlorpromazine and haloperidol, and the effect of typical and atypical antipsychotics on the TSST-1-stimulated blood cell secretion of cytokines, and specifically the interleukin (IL)-17 production have not been studied so far, although IL-17 is a leading pro-inflammatory cytokine. Method: We measured levels of IL-1@b, IL-2, IL-4, IL-6, IL-17 and tumor necrosis factor-@a (TNF-@a) in stimulated blood of 10 healthy female subjects in a whole ...
These three separate pamphlets provide background information, brief discussions of research findings, and guidelines and recommendations concerning selected aspects of diet. The first pamphlet discusses food additives and hyperactivity, focusing on both the Feingold theory and controlled experiments which do not support Feingold's clinical observations and case reports. (The Feingold theory claims that artificial food flavors and colors and antioxidant preservatives cause hyperactivity in genetically predisposed individuals.) The second pamphlet discusses fast food and the American diet as they are related to sound nutritional principles. The third pamphlet, focusing on alcohol use during pregnancy, lists principles and associated features of the fetal alcohol syndrome and presents research findings and recommendations concerning alcohol use during pregnancy. (RH)
Genetics, Genomics, and Molecular Biology USGS scientists develop and integrate new genetic and molecular techniques into systematic analyses to describe individuals and populations of fish .....
Background and objectives.Thymidylate synthase (TS) expression levels appear to be related to response to 5-fluorouracil-(5-FU)-based chemotherapy in colorectal cancer (CRC) patients. Three polymorphisms have been proposed as modulators of TS expression: a tandemly repeated sequence (2R/3R) in the 5? UTR, a SNP (G > C) within the 3R allele and a 6 bp deletion in the 3' UTR.To evaluate the influence of TS expression and polymorphisms on clinical outcome of 5-FU-treated patients we performed a comprehensive genetic analysis on 63 CRC patients.Methods.TS expression levels were analyzed in normal and tumor tissues. TS coding sequence and UTR polymorphisms were investigated on DNA from normal tissue. LOH analysis was performed to determine tumor genotype.Results.A difference in disease-free sur...
BackgroundWith a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing...Full Text Available
The accelerating development of biochemical and DNA-based diagnostic tests for human genetic conditions in the last decade has engendered a revolution in genetic diagnosis. Both genetic testing and...Full Text Available
The genetically significant dose (GSD), per Caput mean bone marrow dose (CMD), leukemia significant dose (LSD) and malignancy significant dose (MSD) from medical diagnostic X-ray examinations in Japan were estimated based on a 1979 nationwide survey of randomly sampled hospitals and clinics. The population risk estimates were carried out using the resultant values of GSD, LSD and MSD. In the risk estimates, the significant factors, namely, the relative child expectancy, the leukemia significant factor and the malignancy significant factor, for patients were assumed to be same as those of general population. The risk factors used were 185 x 10"-"6 rad"-"1 for genetic risk of all generations, 20 x 10"-"6 rad"-"1 for fatal leukemia and 165 x 10"-"6 rad"-"1 for fatal malignant diseases, respectively. The resultant annual population doses per person were 15 mrad (0.15 mGy) for GSD, 107 mrad (1.07 mGy) for CMD, 86 mrad (0.86 mGy) ...
The cavum septum pellucidum is an anatomical variants of the septum pellucidum, and lying between two lateral ventricles and this is referred to as the fifth ventricle. Occasionally, posterior extension of the cavum septum pellucidum towards the splenium is seen and this is known as the cavum vergae, or sixth ventricle. The septum is double membrane and occasionally a narrow cavity containing CSF is present between these membrane. The roof of the cavum septum pellucidum is formed by the corpus callosum and its floor by the anterior pillars of the fornix. This cavum outlined with air is occasionally seen in the pneumoencephalography. Brain CT scans of 1000 patients were performed, and the diagnosis could be made on the basis of the characteristic shape, density and location. Other diagnostic procedure are not necessary in these cases. Patients were examined with CT scanner from June-80' to Dec-80', at department of radiology, Maryknoll Hospital, ...
Attention deficit hyperactivity disorder (ADHD) is one of the most common behavioral disorders in children. Symptoms of ADHD include hyperactivity, low frustration tolerance, impulsivity, and inattention. While the biological pathways leading to ADHD are not clearly delineated, a number of genetic and environmental risk factors for the disorder are recognized. In the early 1970s, research conducted by Dr. Benjamin Feingold found that when hyperactive children were given a diet free of artificial food additives and dyes, symptoms of hyperactivity were reduced. While some clinical studies supported these findings, more rigorous empirical studies conducted over the next 20 years were less positive. As a result, research on the role of food additives in contributing to ADHD waned. In recent years, however, interest in this area has revived. In response to more recent research and public petitions, in December 2009 the British government requested ...
The subjects covered in this Symposium range through almost every clinical medical specialty. From an average of one paper in each of the past three Symposiums, the explosive interest in cerebral amyloidosis has led to the presentation of 12 papers on this subject in the present volume. The genetically predisposed familial amyloidotic processes, such as the polyneuropathies and familial Mediterranean fever have also stimulated extensive and intriguing investigations which have revealed the striking effect of a single amino acid substitution in transforming a normal protein into a lethal ''amyloidogenic'' one. This Symposium clearly depicts the advances since the first amyloid fibril protein was definitively identified and defined 14 years ago. Since all amyloid fibril proteins so far described are variants of normal proteins, attention to gene abnormalities now becomes a significant focus as well as the pathogenic sequences which lead in these ...
Mouse genetic resources include inbred strains, recombinant inbred lines, chromosome substitution strains, heterogeneous stocks, and the Collaborative Cross (CC). These resources were generated through...Full Text Available
Recently, there has been significant progress in the development of genetically-engineered mouse (GEM) models. By introducing genetic alterations and/or signaling alterations of human pancreatic cancer...Full Text Available
Gene expression data has been used in lieu of phenotype in both classical and quantitative genetic settings. These two disciplines have separate approaches to measuring and interpreting epistasis, which...Full Text Available
BackgroundA goal of human genetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the...Full Text Available
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully...Full Text Available
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure control most patients have intellectual disability. Folinic acid responsive seizures (FARS) are genetically identical to ATQ deficiency. ATQ functions as an aldehyde dehydrogenase (ALDH7A1) in the lysine degradation pathway. Its deficiency results in accumulation of ?-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF. To interrupt seizures a dose of 100mg of pyridoxine-HCl is given intravenously, or orally/enterally with 30mg/kg/day. First administration may result in respiratory arrest in responders, and thus treatment should be performed with support of respiratory management. To make sure that late and masked response is not missed, treatment with oral/enteral pyridoxine should be ...
BackgroundGenetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP). DNA-based tests...Full Text Available
The Molecular Genetics and Carcinogenesis Section conducts studies using human epithelial cells to assess: activation of proto-oncogenes by chemical and physical carcinogens; inactivation and dysregulation of tumor suppressor genes by chemical and physical
Mice are an ideal mammalian model for studying the genetics of aging: considerable resources are available, the generation time is short, and the environment can be easily controlled, an important...Full Text Available
The Liver Carcinogenesis Section uses the modern technologies of molecular biology, cell biology, protein chemistry and genetics to investigate the biochemical and genetic pathways involved in human liver cancer.
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The field of stem cell research was revolutionized with the advent of induced pluripotent stem cells. By reprogramming somatic cells to pluripotent stem cells, most ethical concerns associated with the use of embryonic stem cells are overcome, such that many hopes from the stem cell field now seem a step closer to reality. Several methods and cell sources have been described to create induced pluripotent stem cells and we discuss their characteristics in terms of feasibility and efficiency. From these cells, cardiac progenitors and cardiomyocytes can be derived by several protocols and most recent advances as well as remaining limitations are being discussed. However in the short time period this technology has been around, evidence emerges that induced pluripotent stem cells may be more prone to genetic defects and maintain an epigenetic memory and thus may not be entirely the same as embryonic stem cells. Despite the lack of a complete fundamental understanding ...
BackgroundCotton, with a large genome, is an important crop throughout the world. A high-density genetic linkage map is the prerequisite for cotton genetics and breeding. A genetic...Full Text Available
Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side ...
Central nervous system (CNS) manifestations in acquired immunodeficiency syndrome (AIDS) patients are an early and common feature. The spectrum of AIDS-related CNS diseases are encephalitis caused by the human immunodeficiency virus(HIV) itself, opportunistic infection, infarct and malignancy. We experienced two cases of CNS involvement in AIDS and they were serologically diagnosed as HIV encephalitis and CNS toxoplasmosis, respectively. In the case of the HIV encephalitis patient, brain MRI showed a non-enhancing lesion with high signal intensity on T2WI and low signal on T1WI and there was no mass effect on the right frontal lobe, periventricular white matter, splenium of the corpus callosum or bilateral basal ganglia. In the other case of CNS toxoplasmosis, MR showed multiple nodular and rim enhanced mass lesions in the right basal ganglia, thalamus and periventricular white matter, which were of low signal intensity on T1WI and of high intensity on T2WI. We ...
Objective: The paper describes and evaluates the use of Clinical Digital Libraries Project (CDLP) digital library collections in terms of their facilitation of timely clinical information...Full Text Available
Summary The objective of this study was to quantify the genetic diversity among breeds under evaluation for tropical adaptability traits that affect the performance of beef cattle at the USDA/ARS SubTropical Agricultural Research Station (STARS) near Brooksville, FL, USA. Twenty-six microsatellite loci were used to estimate parameters of genetic diversity among the breeds American Brahman, Angus, Senepol and Romosinuano; the latter was comprised of two distinct bloodlines (Costa Rican and Venezuelan). Genotypes of 47 animals from each of these STARS herds were analysed for genetic diversity and genetic distance. Using two methods, the greatest genetic distance was detected between the Costa Rican line of Romosinuano and the Senepol. Gene diversity ranged between 0.64 (Costa Rican line of R...
Over the last decade, the use of the zebrafish as a genetic model has moved beyond the proof-of-concept for the analysis of vertebrate embryonic development to demonstrated utility as a mainstream...Full Text Available
Forward and reverse genetic experiments have both played important roles in revealing critical aspects of mammalian signal transduction pathways in cell culture experiments. Only recently have we begun...Full Text Available
Current genome-wide association studies (GWAS) are moving towards the use of large cohorts of primary cell lines to study a disease of interest and to assign biological relevance to the genetic signals...Full Text Available
Although genetic engineering techniques for baker's yeast might improve the yeast's fermentation characteristics, the lack of scientific data on the survival of such strains in natural environments...Full Text Available
Genetically identical rhesus monkeys would have tremendous utility as models for the study of human disease and would be particularly valuable for vaccine trials and tissue transplantation studies where...Full Text Available
Dairy cattle of three genetic lines maintained year round in total confinement (either in loose housing or tie stall barn) were monitored for estrous cycle activity and reproductive performance. Only...Full Text Available
The achievements made in the field of radiation protection over the past 20 years are outlined. Risk analysis as applied to medicine is considered and genetic significant doses, genetic risks, somatic effective doses and somatic risks are discussed. (C.F.).
A computer program, RISK-XLR, which calculates genetic risk for carrier status of a Mendelian X-linked recessive condition has been written for the Macintosh series of microcomputers. The program,...Full Text Available
Plants have too long been ignored as useful screening and monitoring systems of environmental mutagens. However, there are about a dozen reliable, some even unique, plant genetic systems that can increase...Full Text Available
AbstractGenetic-variant analysis of rabies viruses provides the most sensitive epidemiologic tool for following the spread and persistence of these viruses in their wildlife hosts. Since...Full Text Available
Auxin modulates diverse plant developmental pathways through direct transcriptional regulation and cooperative signaling with other plant hormones. Genetic and biochemical approaches have clarified...Full Text Available
BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available
The continued evolution of bacterial pathogens has major implications for both human and animal disease, but the exchange of genetic material between host-restricted pathogens is rarely considered....Full Text Available
Our understanding of the genetic basis of systemic lupus erythematosus (SLE) has been rapidly advanced using large-scale, case–control, candidate gene studies as well as genome-wide...Full Text Available
Mood and anxiety disorders and rodent phenotypic measures modeling these disorders have a strong genetic component. Various assays are used to study the neurobiological basis of fear- and anxiety-related...Full Text Available
BackgroundStress fractures are a significant problem among athletes and soldiers and may result in devastating complications or even permanent handicap. Genetic factors may increase...Full Text Available
We report on genetic identification of ‘whale meat’ purchased in sushi restaurants in Los Angeles, CA (USA) in October 2009 and in Seoul, South Korea in June and September 2009. Phylogenetic...Full Text Available
Over the past two decades, combined advances in genetics, developmental biology and biochemistry have transformed the study of human birth defects. This review describes the importance of genome architecture,...Full Text Available
The genetic architecture of complex traits underlying physiology and disease in most organisms remains elusive. We still know little about the number of genes that underlie these traits, the magnitude...Full Text Available
This is the first report of research for an ongoing study to evaluate the genetic effects of using hatchery-reared fish to supplement natural populations of chinook salmon and steelhead in the Snake River Basin.
The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating...Full Text Available
Random amplified polymorphic DNA fingerprinting was performed to assess the genetic diversity among rarely cultivated traditional indica rice (Oryza sativa ...Full Text Available
The purpose of this study was to investigate whether genetically determined properties of muscle metabolism contribute to the exceptional physical endurance of world-class distance runners. ATP, phosphocreatine,...Full Text Available
Rumen-cannulated cows (n = 4) were fed successively silage made from either conventional or genetically modified (GM) maize. Results revealed no effects of GM maize on the dynamics...Full Text Available
Nuclear transfer (NT) is a procedure by which genetically identical individuals can be created. The technology of pig somatic NT, including in vitro maturation of oocytes, isolation and treatment of...Full Text Available
The zebrafish is emerging as a prominent model system for studying the genetics of human development and disease. Genetic alterations that underlie each mutant model can exist in the form of...Full Text Available
This study examined the genetic basis of hypertension and renal disease in Dahl SS/Mcwi (Dahl Salt-Sensitive) rats using a complete chromosome substitution panel of consomic rats in which each of the...Full Text Available
HIV infections show great variation in the rate of progression to disease, and the role of viral genetic factors in this variation had remained poorly characterized until recently. Now a series of four...Full Text Available
Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic component. Population genetics...Full Text Available
Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the upstream region including ...
Based on a literature study an actual summary of the risk-utility problems in X-ray diagnosis is outlined due to the Recommendations of the International Commission for Radiation Protection (ICRP publication 26/1977). Papers demonstrating quantitative assessment of the somatic and genetical risk in X-ray examination are preferably cited and evaluated. It is concluded that the somatic and genetical risk is low in diagnostic ratiology. However, it must not be neglected and has always to be compared to the utility of an examination as well as to other risks of the examination. (author).
Patients who fail to attend initial appointments reduce clinic efficiency. To maximize attendance by newly referred outpatients, we introduced a mandatory group orientation clinic for all new patients...Full Text Available
Study DesignThis is a retrospective study that was done according to clinical and radiological evaluation.PurposeWe analyzed the clinical and radiological...Full Text Available
The likelihood that past experience will produce correct guides to current practice depends on the signal-to-noise ratio for the clinical problem of interest. If the signal-to-noise ratio is high, the...Full Text Available
The Clinical Summary is a Web-based application for accessing the clinical database at the Massachusetts General Hospital. The application has been developed to give physicians in our health care community...Full Text Available
In 2008, a clinical information tool was developed and embedded in the electronic health record system of an academic medical center. In 2009, the initial information tool, Clinical-e, was superseded...Full Text Available
PURPOSE The Wells rule is widely used for clinical assessment of patients with suspected deep vein thrombosis (DVT), especially in the secondary care setting. Recently a new clinical decision...Full Text Available
The clinical signs and postmortem findings in sheep from two flocks accidentally poisoned with monensin are described. Clinical signs began within 24 hours of exposure to monensin. In the acute stages...Full Text Available
Sufficient genetic diversity exists in Indian tree species to give large genetic gains. Improvement potential, using wild gene resources for selection and breeding is vast as there are over 244 genera and 400 forest tree species in India. Of these over 30 species and 22 genera are of outstanding forestry value. Selective genetic-variation can be lifted from wild populations, multiplied vegetatively or by seed, and planted with controlled germplasm sources. Among the Indian species no less than 74 reproduce by cutting, 11 by layers, 9 by grafting and buding and 104 by root suckers. More than 161 species coppice vigorously. Afforestation techniques of over 170 species have been worked out. Tree genetic approach of survey of natural variability, quick evaluation, selection, conservation multiplication and planting superior variability directly in the field can give immediate genetic ...
Although clinic environments are a primary location for exchanging information with clinicians, patients experience these spaces as harsh environments to access, use, exchange, and manage information....Full Text Available
A questionnaire on the development of specialist clinics was distributed to the members of the Association of British Neurologists and completed by 104 members (85 consultants). Half of the respondents...Full Text Available
As controlled clinical vocabularies assume an increasing role in modern clinical information systems, so the issue of their quality demands greater attention. In order to meet the resulting stringent...Full Text Available
PURPOSE: To determine the risk factors and clinical signs of Curvularia keratitis and to evaluate the management and outcome of this corneal phaeohyphomycosis. METHODS: We reviewed clinical and laboratory...Full Text Available
A tunable diode laser is used to obtain infrared spectra of carbon dioxide in biological materials. The spectral resolution is sufficient to readily distinguish differing isotopic species. The technique may prove useful in clinical tests.
Although coagulase-negative staphylococci (C-NS) have been implicated in certain human infections, they are generally regarded as contaminants, and their clinical significance is questioned. To assess...Full Text Available
In 2005, the American Medical Informatics Association undertook a set of activities relating to clinical decision support (CDS), with support from the office of the national coordinator and the Agency...Full Text Available
Introduction: Generally agreed outcome criteria in psychosis are required to evaluate the effectiveness of new treatment strategies. The aim of this study is to explore clinical recovery...Full Text Available
PurposeTo evaluate the clinical characteristics and outcomes of cataract surgery in highly myopic Korean subjects.MethodsWe retrospectively reviewed...Full Text Available
AIM: To evaluate the prevalence of upper gastrointestinal symptoms and their association with clinical and functional characteristics in elderly outpatients.METHODS: The study involved 3238 outpatients...Full Text Available
Full text: Disorders of brain development and phakomatosis are resulting from disturbed embryonic-foetal development One third of all major embryological anomalies involve CNS, and over 2000 different anomalies have been described. Anomalies of the brain often cause foetal and neonatal death, and mental and physical retardation in pediatric group. The majority of disorders of brain development and phakomatosis are idiopathic, and most of them are not hereditary or familial. Ultrasonography plays the important role in screening foetal and neonatal brain, but after closure of fontanels it is difficult to find the acoustic window. CT has limited contrast resolution, and disadvantage exposing infant to ionizing radiation. It is helpful to demonstrate the presence of calcifications. MR imaging has proved to be a diagnostic tool of major importance in children with disorders of brain development and phakomatosis. The excellent grey/white matter differentiation and multiplanar imaging ...
Computed tomograms (CT) from 204 cases of premature and full term infants were studied. 1) In 70 infants of hyaline membrane disease, primary apnea and asymptomatic transient hypoglycemia and hypocalcemia, without any abnormal CT findings such as intracranial hemorrhage, periventricular lucency was found in 65 cases (93%) and a wide extracerebral space of the temporal lobes was found in 60 cases (86%) before 44 weeks of gestation. A wide interhemispheric fissure was found in 11 cases of extremely premature infants before term. Periventricular lucency and a wide extracerebral space of temporal lobes may not be the result of the intracranial pathological changes, but they may represent a stage of brain development. 2) In 204 cases, intracranial hemorrhage was found in 39 cases; intra ventricular 14 cases, subependymal 2 cases, intracerebral 4 cases, subarachnoid 19 cases. CT was useful in evaluating the site and extent of hemorrhage. Among 14 cases of intraventricular hemorrhage, 9 cases ...
Analysis of data on seedling traits from 20 diverse genotypes revealed significant differences fro most of the seedling traits. Significant estimates of broad-sense heritability were observed for VI, ERI, FRTW, DRTW and R/S ratio. Genetic advance was maximum for VI,ERI and E%. The correlation of VI with ERI and R/S ratio was negative and significant, whereas it was positive and significant with E%, FSHW and DSHW. Characterization of the sorghum genotypes according to Anderson's Metro glyph Statistics revealed five different groups for seedling trails. (authors)
This book presents in simple terms the basis of molecular genetics and how it is used to obtain an understanding of the human genome. The author's central focus is the transistion of genetics from statistics to experimental manipulations, and he offers analogies that help readers visualize the genome, thereby avoiding conventional scientific presentations. He illustrates how genetics is used in scientific laboratories, in courtrooms, and in hospitals. Little is presented about the complex social and ethical issues raised by the Human Genome project.
BackgroundDuplications of stretches of the genome are an important source of individual genetic variation, but their unrecognized presence in laboratory organisms would be a confounding...Full Text Available
The application of multi-objective genetic algorithms for green building design in two phases were presented in order to better help designers in the decision-making process. The purpose is to minimize two conflicting criteria: the life-cycle cost and the life-cycle environmental impact. Environmental impact criteria examined include energy and non-energy natural resources, global warming, and acidification. Variables focus on building envelope-related parameters. The application of multi-objective genetic algorithms is divided into two phases. The first phase intends to help designers in understanding the trade-off relationship between the two conflicting criteria. The second phase intends to refine the performance region that is of the designer's interest. The results after the two-phase application of the multi objective genetic algorithm were then presented. 13 refs., 4 tabs., 3 figs.
German translation of the publication 'The evaluation of risks from radiation' published in 1965 by the International Commission on Radiological Protection. In a survey, genetic and somatic risks from radiation are presented and explained. (HP).
We determined the underlying aetiology of blindness for the registered blind population of the Province of Newfoundland and Labrador. In both 1981 and 1984 single-gene disorders accounted for 30% of...Full Text Available
Myriad genetic and epigenetic alterations are required to drive normal cells toward malignant transformation. These somatic events commandeer many signaling pathways that cooperate to endow aspiring...Full Text Available
Spatial epidemiology is the description and analysis of geographic variations in disease with respect to demographic, environmental, behavioral, socioeconomic, genetic, and infectious risk factors....Full Text Available
To evaluate the contribution of genetic influences on the individual variation in plateau serum salicylate levels, salicylate metabolism was studied in seven pairs of identical and six pairs of fraternal...Full Text Available
Knowledge about retinal photoreceptor signal transduction and the visual cycle required for normal eyesight has expanded exponentially over the past decade. Substantial progress in human genetics...Full Text Available
the environment, with the 2006 release of a GM pink bollworm moth (a pest of cotton), ...Use of Genetically Engineered Fruit Fly and Pink Bollworm in APHIS Plant Pest Control Programs 6 Gould,
Comparative Molecular Genetic Monitoring of Myxoviruses Circulating in Populations of Seals Phoca Caspia and Phoca Sibirica in Northern Caspian Region and Lake Baikal
In this work, we report for the first time on the analysis of genetic diversity within a set of 36 Tunisian Opuntia ficus indica (L.) Mill. ecotypes using RAPD markers.Random decamer primers were screened to assess their ability to detect polymorphisms in this plant crop. Thirty-nine RAPD markers were revealed and used to survey the genetic diversity at the DNA level and to establish relationships.Consequently, considerable genetic diversity was detected and the UPGMA analysis permitted the discrimination of all the genotypes and enabled their sorting into thirteen groups. The accession `R Sbiba inerme' was significantly divergent from all tested genotypes. In addition, as shown by the clustering the tested genotypes did not significantly diverge, though originating from different localiti...
BackgroundMolecular genetic studies of Bombyx mori have led to profound advances in our understanding of the regulation of development. Bombyx mori brain,...Full Text Available
Microreserves may be useful in protecting native arthropod diversity in urbanized landscapes. However, species that do not disperse through the urban matrix may eventually be lost from these fragments. Population extinctions may be precipitated by an increase in genetic differentiation among fragments and loss of genetic diversity within fragments, and these effects should become stronger with time. We analyzed population genetic structure in the dispersal limited Jerusalem cricket Stenopelmatus n. sp. ?santa monica?? in the Santa Monica Mountains and Simi Hills north of Los Angeles, California (CA), to determine the impacts of fragmentation over the past 70 years. MtDNA divergence was greater among urban fragments than within contiguous habitat and was positively correlated with fragment ...
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available
The gilthead seabream, Sparus aurata, represents an important economic resource for Mediterranean aquaculture. In spite of its wide geographic distribution and economic importance, only recently studies have been carried out on the genetic composition of natural populations, which have revealed a picture of a heterogeneous degree of genetic differentiation among S. aurata populations. In this study an allozyme analysis of samples from six different collecting sites along the Italian and Croatian coasts was carried out, covering an area in the Central Mediterranean sea that has yet to be investigated through gene-enzyme systems. Data on 26 gene loci, 10 of which are polymorphic, indicate a slight but significant genetic structure (FST = 0.0167) of the species. A hierarchical analysis of pop...
RationaleCollaterals are arteriole-to-arteriole anastomoses that connect adjacent arterial trees. They lessen ischemic tissue injury by serving as endogenous bypass...Full Text Available
The expression of motor activity levels in response to novel situations is under complex genetic and environmental control. Several genetic loci have been implicated in the regulation of this behavioral phenotype, but their relationship to epigenetic and epistatic interactions is relatively unknown. Here, we report on a quantitative trait locus (QTL) on mouse chromosome 1 for novelty-induced motor activity in the open field, using chromosome substitution strains derived from a high active host strain (C57BL/6J) and a low active donor strain (A/J). The QTL for open field (horizontal distance moved) peaked at the location of Kcnj9, however, QTL detection was initially masked by an interplay of both grandparent genetic origin and genetic co-factors influencing behavior on chromosome 1. Our fi...
BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available
Behavioral responses to wind are thought to play a critical role in controlling the dispersal and population genetics of wild Drosophila species1,Full Text Available
diet and genetic obesity metabolic defects and inflammation. To determine the role of adipocyte death in promoting adipose tissue inflammation and insulin resistance in animal...
Does the cultural background influence the success with which genetically unrelated individuals cooperate in social dilemma situations? In this paper, we provide an answer by analysing the data of Full Text Available
Executive summary 1. Few studies have to date explained consumer attitudes and purchase decisions with regard to genetically engineered food products. However, the increased marketing of genetically engineered food products and the considerable concern that consumers seem to express with regard to the technology call for the development of a theoretical basis for research into these issues. 2. The aim of the paper is to present three models which we have developed to explain consumer attitudes, buying behaviour and attitude change with regard to genetically engineered food products. All three models build on established consumer behaviour theory and on existing and comparable research in the field. 3. Consumer attitudes toward genetic engineering in food products are explained in an attitude model that builds on Fishbein's multiattribute attitude model. The model deviates from Fishbein's model in a ...
The study of genetic variability within natural populations of pathogens may provide insight into their evolution and pathogenesis. We used a Mycobacterium tuberculosis high-density...Full Text Available
Aging can be defined as a progressive decline in physiological efficiency regulated by an extremely complex multifactorial process. The genetic makeup of an individual appears to dictate this rate...Full Text Available
What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...
... The effectiveness of immune suppression with both 6-mercaptopurine and methotrexate was insufficient to permit induction of a clinically useful ...
A graphic approach, terms a Genetic Activity Profile (GAP), was developed to display a matrix of data on the genetic and related effects of selected chemical agents. The profiles provide a visual overview of the quantitative (doses) and qualitative (test results) data for each chemical. Either the lowest effective dose or highest ineffective dose is recorded for each agent and bioassay. Up to 200 different test systems are represented across the GAP. Bioassay systems are organized according to the phylogeny of the test organisms and the end points of genetic activity. The methodology for producing and evaluating genetic activity profile was developed in collaboration with the International Agency for Research on Cancer (IARC). Data on individual chemicals were compiles by IARC and by the US Environmental Protection Agency (EPA). Data are available on 343 compounds selected from volumes 1-53 of the IARC ...
In this paper, a new design methodology for determining the size, location, type and number of capacitors to be placed on a radial distribution system is presented. The objective is to minimize the peak power losses and the energy losses in the distribution system considering the capacitor cost. A sensitivity analysis based method is used to select the candidate locations for the capacitors. A new optimization method using a Genetic Algorithm is proposed to determine the optimal selection of capacitors. Test results have been presented along with the discussion of the algorithm.
A 13.1-kb DNA fragment carrying Pseudomonas denitrificans cob genes has been sequenced. The nucleotide sequence and genetic analysis revealed that this fragment contained five different cob genes named...Full Text Available
We have used triparental matings to demonstrate transfer (mobilization) of the nonconjugative genetically engineered plasmid pHSV106, which contains the thymidine kinase gene of herpes simplex virus...Full Text Available
These three volumes cover liposome technology in pharmacology and medicine. Contributors emphasize methodology used in their own laboratories, and include a brief introduction, coverage of relevant literature, applications and critical evaluations for the methods they describe. Volume II presents procedures for the entrapment of a number of drugs, including genetic material, into selected types of liposomes.
Newly hatched chicks were dosed orally with a Salmonella typhimurium wild-type strain, an S. enteritidis wild-type strain, and a genetically defined S. enteritidis aroA vaccine candidate, strain CVL30....Full Text Available
It is the purpose of this review to draw together the recent research adding to our understanding of the molecular nature of Clostridia. The thrust here is to emphasize those research advances in biochemistry and genetics that bear upon future development of fermentation processes employing the Clostridia. 222 refs., 10 figs., 5 tabs.
The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)
Constructive and combinatorial relationships between order-isomorphisms and order-equivalence classes within the generalized genetic code are presented, not only for the biologically relevant groups of order 4, but also for finite groups of arbitrary order. The main result is the derivation of the number (and types) or order-equivalence classes for a group of order n. Finally, an extension of this work to all biologically admissible alternative codes is discussed.
The risks from radiation exposure during radiological diagnosis has usually been estimated in relation to genetic changes. Relevant information has been expressed as the genetically significant dose. In this paper we attempt to produce an analogous measure for evaluating the somatic risk in the form of a somatically significant dose index for radiological and CT examinations. It is shown that, for both types of examination, the two risk factors may be entirely different.
The risks from radiation exposure during radiological diagnosis has usually been estimated in relation to genetic changes. Relevant information has been expressed as the genetically significant dose. In this paper we attempt to produce an analogous measure for evaluating the somatic risk in the form of a somatically significant dose index for radiological and CT examinations. It is shown that, for both types of examination, the two risk factors may be entirely different. (orig.).
Late somatic and genetic radiation effects are imperfectly understood, particularly in the human species. However the available information is sufficient to draw reasonably precise risk estimates in man for many types of damage by means of scientifically justifiable procedures and with the necessary caution. This overall absolute risk of major somatic and genetic damage may be set at around 10"-"4/rad of chronic whole-body doses.
Transcriptional silencing in Saccharomyces cerevisiae occurs at several genetic loci, including the ribosomal DNA (rDNA). Silencing at telomeres (telomere position effect [TPE])...Full Text Available
Crosses between field isolates of Magnaporthe grisea (anamorph, Pyricularia oryzae Cav. and Pyricularia grisea) have led to the development of fertile laboratory strains that infect goosegrass and/or weeping lovegrass. These strains may now be utilized in a rigorous genetic analysis of host species specificity and general pathogenicity. Attempts to improve the fertility of rice pathogens for the goal of undertaking a genetic analysis of host cultivar specificity have so far been unsuccessful. Crosses between M. grisea strains that infect rice, goosegrass or weeping lovegrass demonstrate that host species specificity differences between field isolates of this fungus in some cases have a complete genetic basis, and in other cases have a simple genetic basis. Crosses between a field isolate of the pathogen that infects weeping lovegrass and a field isolate that infects goosegrass have resulted in the ...
Abstract Polymorphisms in the genomic DNA of eight varieties maintained by conventional bud propagation (via rhizomes) and by in vitro shoot tip cultures were detected by RAPD analysis of sugarcane varieties. The study estimated the genetic diversity induced after in vitro multiplication of these varieties. Higher (28.9%) and lower (12%) numbers of polymorphic bands were detected in plants propagated via rhizomes; the genetic similarity estimate varying from 0.63 to 0.80. Plants of SP90-3723 and SP91-1049, or RB85-5113 and SP90-3723, varieties involving greater genetic distances may be indicated as progenitors in breeding programmes. In vitro multiplication of RB86-7515, RB85-5113, RB83-5054 and SP86-42 varieties increases genetic variability, while in vitro multiplication of SP91-1049, SP...
Attention Deficit Hyperactivity Disorder (ADHD) is a neurobiological disorder of early childhood onset. Defining symptoms are chronic impairments of attention, impulse control and motor hyperactivity that frequently persist until adulthood. Miscellaneous causes of the disorder have been discussed. Accumulating evidence from imaging- and molecular genetic studies strengthened the theory of ADHS being a predominantly inherited disorder of neurobiological origin. In the last 15 years, non-invasive brain imaging methods were successfully implemented in pediatric research. Functional magnetic resonance imaging studies gave major insight into the neurobiological correlates of executive malfunction, inhibitory deficits and psychomotoric soft signs. These findings are in good accordance with brain morphometric data indicating a significant volumetric decrease of major components of striato-thalamo-cortical feedback loops, primarily influencing prefrontal executive ...
PurposeWe conducted a comparative study of Clinical Target Volume (CTV) definition of pelvic lymph nodes by multiple GU radiation oncologists looking at the levels...Full Text Available
This report describes a case of toxic myopathy in a two year old sheltie dog with clinical signs of profound weakness, myoglobinuria, and muscle enzyme elevations. The clinical signs were likely related...Full Text Available
The clinical management of adults with low-grade gliomas (LGGs) remains a challenge. There is no curative treatment, and management of individual patients is a matter of deciding optimal timing as well...Full Text Available
Objective. Cervical cancer patients who had an abandoned radical hysterectomy were evaluated for preoperative clinical predictors, complication rates, and outcomes. Study...Full Text Available
Randomized clinical trials are designed with stopping boundaries to guide data monitoring committees with their decision making concerning ongoing trials. In particular, when extremely positive results...Full Text Available
Sex-related influences on pain and analgesia have become a topic of tremendous scientific and clinical interest, especially in the last 10 to 15 years. Members of our research group published...Full Text Available
The planned spallation source can be of considerable significance for biomedical basic research and for clinically relevant diagnostic and therapeutic applications. The following gives a brief description and explanations for its possible use in clinical medicine: I. Treatment of Malignant Tumors II. Production of Isotopes for Biochemical Investigations in Living Organisms for Diagnostic Purposes.
The relationship between malaria transmission intensity and clinical disease is important for predicting the outcome of control measures that reduce transmission. Comparisons of hospital data...Full Text Available
This paper discusses the clinical application and main objective of testicular imaging. The authors present cases that represent a spectrum of the abnormalities which might be detected by testicular imaging, with special attention given to testicular torsion and the acute diseases which may mimic it clinically. Accuracy of the test is noted.
AbstractQuantities and types of ceramides and their relationships to physical properties of the horn covering the claws of clinically normal cows and cows with subclinical laminitis were...Full Text Available
The ubiquity and ease of use of the Web have made it an increasingly popular medium for communication of health-related information. Web interfaces to commercially available clinical information systems...Full Text Available
BackgroundPercutaneous endoscopic lumbar discectomy is a relatively new technique. Very few studies have reported the clinical outcome of percutaneous endoscopic discectomy in terms...Full Text Available
BackgroundThe aim of this study is to examine how clinicians and patients negotiate clinical need and treatment decisions within a context of finite resources. Dental implant treatment...Full Text Available
Over the past 10 years, the original partnership of clinician and statistician for the running of clinical research projects, especially clinical trials, has come to be supplemented by the data manager...Full Text Available
BackgroundThe lack of adequate randomized clinical trials (RCT) has hindered identification of new therapies that are safe and effective for patients with primary focal segmental...Full Text Available
A double-blind, placebo-controlled clinical trial of a homeopathic treatment of neonatal calf diarrhoea was performed using 44 calves in 12 dairy herds. Calves with spontaneously derived diarrhoea were...Full Text Available
BackgroundHepatitis A virus (HAV) strains detected in environmental and clinical samples were analysed to characterize the genotypes of HAV circulating in Greece. Fifty (50) sewage...Full Text Available
Objectives: The authors designed and implemented a clinical data mart composed of an integrated information retrieval (IR) and relational database management system (RDBMS).Design:...Full Text Available
Policies and regulations in the current health care environment have impacted the manner in which patient data - especially protected health information (PHI) - are handled in the clinical and...Full Text Available
We sought to determine the prevalence of metabolic syndrome (MS) in patients with acute myocardial infarction and its effect on clinical outcomes. Employing data from the Korea Acute Myocardial Infarction...Full Text Available
PURPOSE We wanted to assess the impact of an electronic health record–based diabetes clinical decision support system on control of hemoglobin A1c (glycated hemoglobin),...Full Text Available
Purpose:The oral chemotherapy cycle management program (CMP) provides clinical management support to patients receiving certain oral chemotherapies. The CMP includes a dose-monitoring...Full Text Available
Membranous dysmenorrhea is an unusual clinical entity. It is characterized by the expulsion of huge fragments of endometrium during the menses, favored by hormonal abnormality or drug intake. This report describes a case with clinical, US, and MRI findings before the expulsion. Differential diagnoses are discussed. (orig.)
SummaryObjective:Formalizing clinical practice guidelines (CPGs) for a subsequent computer-supported processing is a challenging, but burdensome and...Full Text Available
This paper presents HEARTVIEW - a knowledge base (KB) that offers aid for clinical research in cardiology. This KB is an essential component of the medical workstation MW2000, now under development...Full Text Available
The effect of growth phase on expression of virulence-associated factors was studied by Northern hybridization in an M1T1 clinical isolate of Streptococcus pyogenes. Expression of M...Full Text Available
Glossitis among U.S. military working dogs in South Vietnam was characterized by variable redness and loss of papillae on the anterodorsal third of the tongue; salivation, drooling, and inappetence were the principal clinical signs. Symptomatic treatment ...
The clinical significance, Gram stain reaction, and genus affiliation of Gardnerella vaginalis have been controversial since Gardner and Dukes described the organism as the cause of "nonspecific vaginitis,"...Full Text Available
IntroductionIntrarenal pseudoaneurysm is a rare, yet clinically significant, complication of percutaneous nephrolithotomy. A high index of clinical suspicion is necessary in order...Full Text Available
Objective:To investigate the combined effect of both pioglitazone and methotrexate on disease activity of rheumatoid arthritis in a biphasic study; experimental and clinical.Methods:Experimentally:...Full Text Available
The definitive clinical trial which demonstrated the beneficial effects of photocoagulation in treating diabetic retinopathy was reported in 1976 in the American Journal of Ophthalmology by the Diabetic...Full Text Available
Real-time PCR has the potential to streamline detection and identification of Cryptosporidium spp. in human clinical samples. In the present...Full Text Available
Coryneform isolates from clinical specimens frequently cannot be identified by either reference laboratories or research laboratories. Many of these organisms are skin flora that belong to a large number...Full Text Available
Patients with adhesive capsulitis were clinically evaluated to establish whether pain elicited by pressure on the coracoid area may be considered a pathognomonic sign of this condition. The study group...Full Text Available
In support of a new clinical trial designed to compare the effects of crushed fresh garlic and two types of garlic supplement tablets (enteric-coated dried fresh garlic and dried aged garlic...Full Text Available
BackgroundIn cancer research, most clinical variables have already been investigated and are now well established. The use of transcriptomic variables has raised two problems: restricting...Full Text Available
Clinical-HINTS (Health Intelligence System) is a horizontally integrated decision support system (DSS) designed to meet the requirements for intelligent real-time clinical information management in critical care medical environments and to lay the foundation for the development of the next generation of intelligent medical instrumentation. The system presented was developed to refine and complement the information yielded by clinical laboratory investigations, thereby benefiting the management of the intensive care unit (ICU) patient. More specifically, Clinical-HINTS was developed to provide computer-based assistance with the acquisition, organisation and display, storage and retrieval, communication and generation of real-time patient-specific clinical information in an ICU. Clinical-HINTS is an object-oriented system developed in C+2 to run under Microsoft ...
BackgroundThe purpose of our study was to evaluate the clinical value of hybrid SPECT/CT for the assessment of patients with painful total knee arthroplasty (TKA).MethodsTwenty-three...Full Text Available
This article describes a new set of revised standards for the medical laboratory, which have been produced by Clinical Pathology Accreditation (UK) Ltd (CPA). The original standards have been in use...Full Text Available
In a combined clinical, radiological, and laboratory study of 77 patients throughout the leprosy spectrum, 10 patients had an enthesitis which has not been described previously as far as is known and...Full Text Available
Background/AimsThe findings of several recent studies suggest that antinuclear antibodies (ANAs) are frequently detected in patients with acute hepatitis A (AHA). However, the clinical...Full Text Available
The purpose of this study was to determine the clinical significance of nodal micrometastasis detected by immunohistochemistry in patients that had undergone curative surgery for pancreatic cancer....Full Text Available
ObjectiveDisc herniations at the L1-L2 and L2-L3 levels are different from those at lower levels of the lumbar spine with regard to clinical characteristics and surgical outcome....Full Text Available
Clinical features and treatment outcome were compared in depressed outpatients with and without a history of emotional and physical abuse (EPA), including childhood maltreatment. Patients were...Full Text Available
The prevalence of chlamydial infection of the urethra was studied in 172 consecutive male patients attending a sexually transmitted disease clinic in Teheran. Chlamydia trachomatis was isolated in 8.8%...Full Text Available
Metastases to the cerebellopontine angles (CPAs) are rare. Typically, the clinical course is one of rapid onset and progression of crarial nerve deficits. The clinical presentation and course of carcinoma...Full Text Available
A methodology and toolkit are described which enable the automated metadata-driven creation of datamarts from clinical data warehouses. The software uses schema-to-schema transformation driven by an...Full Text Available
IntroductionThe goal of this study was to identify serum markers that are modulated by treatment with golimumab with or without methotrexate (MTX) and are associated with clinical...Full Text Available
The level of total extracellular neuraminidase produced by 74 clinical isolates of group B streptococci isolated from diseased or asymptomatically colonized infants was assayed. Extracellular neuraminidase...Full Text Available
Objectives:The aim of this study was to analyze clinical records of dental patients attending the Dental Department at the University of Jordan Hospital: a teaching hospital in Jordan....Full Text Available
The question of whether storage of red blood cells (RBCs) alters their capacity to deliver oxygen and affects patient outcomes remains in a state of clinical equipoise. Studies of the changes...Full Text Available
Acute kidney injury (AKI) is a common clinical problem with significant clinical and economic consequences. A number of studies point to a rising incidence of AKI in the hospital and in the intensive...Full Text Available
ObjectiveCompare occlusal contacts calculated from 3D virtual models created from clinical records to contacts identified clinically using shimstock and transillumination.Full Text Available
BackgroundHealth-Related Quality of Life assessment is widely used in clinical research, but rarely in clinical practice. Barriers including practical difficulties administering...Full Text Available
Recent health care policies and regulations have impacted the manner in which patient data – especially protected health information (PHI) – are handled in both the clinical...Full Text Available
A form for the clinical evaluation of bovine digital disease was developed. In this article, each section of the resulting Digit Evaluation Form is discussed and justified. By following the...Full Text Available
Incorporation of clinical decision support (CDS) capabilities is required to realize the greatest benefits from computerized provider order entry (CPOE) systems. Discussions at a conference on CDS in...Full Text Available
Malformations in farmed fish are a prime research topic as it has a major impact on fish welfare and on the economical value of the product. In this study, the genetic component of spine deformities was estimated in European sea bass, a major species of Mediterranean aquaculture, with the use of a posteriori reconstruction of pedigree with microsatellites. Our population exhibited a very high malformation rate (81%), probably due to intense swimming of fish during pre-growing. The heritability of global spine deformities was evaluated to be 0.21?0.04 on the underlying scale (0.33?0.06 for lordosis, 0.13?0.04 for scoliosis). Deformities scored by an internal or external examination turned out to be genetically the same trait (genetic correlations>0.9), although phenotypic correlations were ...
In virtually all forms of life on earth, proteins in each cell are made according to a genetic blueprint, in the form of DNA. The translation of copies of this genetic blueprint (in the form of messenger RNA) into polypeptides is performed on the ribosome, a highly complex molecular machine composed of RNAs and proteins. To this end, special adaptor molecules called transfer RNAs are lined up by the ribosome in the sequence dictated by the genetic code, such that the amino acids carried by these molecules can be linked into a polypeptide. Several cofactors are involved in these processes, some of which require energy freed up by GTP hydrolysis. Although the ribosome was discovered more than 50 years ago, its structure has only been solved recently by X-ray crystallography. Another technique, cryo-electron microscopy, is starting to contribute toward our understanding of the ribosome's function, by portraying its ...
On November fourth and fifth 2010 a group of more than 100 international investigators gathered in Atlanta for the second Osteoarthritis (OA) Biomarkers Global Initiative workshop titled ''Genetics and Genomics: New Targets in OA''. The first workshop took place in April 2009 and focused on in vitro (soluble) biomarkers whilst the third and final workshop will take place in 2012 and will focus on imaging biomarkers. The OA Research Society International (OARSI) has organized the workshops. In addition to OARSI, the National Institute of Arthritis, Musculoskeletal and Skin Diseases, the Arthritis Foundation, Amgen, Genzyme, the American Orthopaedic Society for Sports Medicine and Pfizer sponsored the second meeting. It was clear from this meeting that experiments in the genetics, epigenetic...
Abstract Aim- To explore whether the subspecific genetic entities of Acacia saligna occupy different bioclimatic niches in their native and introduced ranges and whether these niches are predictable using species distribution models (SDMs). Location- Australia, South Africa and the Mediterranean Basin. Methods- Species distribution models were developed in MAXENT using six climatic variables to calculate the climatic suitability of the ranges of A.saligna. We assessed (1) the subspecific niche differences identified by SDMs using measures of niche overlap and model performance; (2) the ability of SDMs to predict the most likely subspecific genetic entities present in South Africa based on comparisons to genetic data; and (3) the ability of SDMs to predict the most likely subspecific geneti...
Monocelis lineata is a complex of cryptic species (three in the Mediterranean and one in the Atlantic) widespread in midlittoral habitats. Throughout the range, populations with or without an ocular pigmented shield are found. We investigated the genetic structure of the North-East Atlantic populations with the aim of shedding light on their phylogeography and reconstructing possible patterns of recolonization after the Wrmian glaciation. Fourteen samples were investigated using cytochrome c oxidase subunit I (COI) and 13 by inter-simple sequence repeats (ISSRs). COI did not exhibit a clear pattern of decreased genetic diversity along a latitudinal gradient. Populations from Ferrol (Spain), Doolin (Ireland), and Helsingr (Denmark) showed a higher genetic variability, whereas a reduction in...
The Seventh Meeting of the Conference of the Parties (2004) of the Convention on Biological Diversity established a mandate for the negotiation of an international regime on Access to Genetic Resources and Benefit Sharing arising from their utilization. Negotiations have been proceeding and have entered the final phase. Seven working group meetings have been held to date and there is expectation that an instrument will emerge by the final deadline - the Tenth Meeting of the Conference of the Parties in Nagoya, Japan in October 2010. A key component singled out for inclusion in the international regime relates to the recognition and protection of the rights of indigenous and local communities (ILCs) over their traditional knowledge (TK) associated with genetic resources. The Ninth Meeting o...
Genetic mapping is approached using the techniques of high resolution fluorescence in situ hybridization (FISH). This technology and the results of its application are designed to rapidly generate whole genome as tool box of expressed sequence to speed the identification of human disease genes. The results of this study are intended to dovetail with and to link the results of existing technologies for creating backbone YAC and genetic maps. In the first eight months, this approach generated 60--80% of the expressed sequence map, the remainder expected to be derived through more long-term, labor-intensive, regional chromosomal gene searches or sequencing. The laboratory has made significant progress in the set-up phase, in mapping fetal and adult brain and other cDNAs, in testing a model system for directly linking genetic and physical maps using FISH with small fragments, in setting up a database, and in establishing the ...
Occurrence of genetic variants during micropropagation is occasionally encountered when the cultures are maintained in vitro for long period. Therefore, the micropropagated multiple shoots of Vanilla planifolia Andrews developed from axillary bud explants established 10 years ago were used to determine somaclonal variation using random amplified polymorphic DNA (RAPD) and intersimple sequence repeats markers (ISSR). One thousand micro-plants were established in soil of which 95 plantlets (consisting of four phenotypes) along with the mother plant were subjected to genetic analyses using RAPD and ISSR markers. Out of the 45 RAPD and 20 ISSR primers screened, 30 RAPD and 7 ISSR primers showed 317 clear, distinct and reproducible band classes resulting in a total of 30 115 bands. However, no ...
Obesity is associated with increased susceptibility to dyslipidemia, insulin resistance, and hypertension, a combination of traits that comprise the traditional definition of the metabolic syndrome. Recent evidence suggests that obesity is also associated with the development of nonalcoholic fatty liver disease (NAFLD). Despite the high prevalence of obesity and its related conditions, their etiologies and pathophysiology remains unknown. Both genetic and environmental factors contribute to the development of obesity and NAFLD. Previous genetic analysis of high-fat, diet-induced obesity in C57BL/6J (B6) and A/J male mice using a panel of B6-ChrA/J/NaJ chromosome substitution strains (CSSs) demonstrated that 17 CSSs conferred resistance to high-fat, diet-induced obesity. One of these CSS st...
Summary 1. Plants express multiple defensive traits, but little is known about the genetic stability and phenotypic plasticity of these traits in nature. To investigate sources of variation and their potential ecological consequences for herbivores, we combined field observations of cyanogenic lima bean with laboratory experiments. 2. Field studies in South Mexico revealed a distinct variability of cyanogenic traits within and among wild lima bean populations. To differentiate among genetic variation and the impact of ambient conditions on plant phenotypes, we used seed grown plants as well as clones propagated from high (HC) and low cyanogenic (LC) wild type plants. 3. In growth chamber experiments, we cultivated plants under three intensities each of drought and salt stress, nutrient sup...
Plant secondary chemistry is determined by both genetic and environmental factors, and while large intraspecific variation in secondary chemistry has been reported frequently, the levels of genetic variation of many secondary metabolites in forest trees in the context of potential resistance against pests have been rarely investigated. We examined the effect of tree genotype and environment/site on the variation in defensive secondary chemistry of lodgepole pine, Pinus contorta var. latifolia, against the fungus, Grosmannia clavigera (formerly known as Ophiostoma clavigerum), associated with the mountain pine beetle, Dendroctonus ponderosae. Terpenoids were analyzed in phloem samples from 887, 20-yr-old trees originating from 45 half-sibling families planted at two sites. Samples were coll...
Three in vivo assays were used to measure the immunocompetence of chickens in two generations of a selection experiment. The obtained data were used to estimate the variance components for sire and dam for antibody production to Pasteurella multocida and Mycoplasma gallisepticum vaccines, for T-cell-mediated immunity evaluated by a phytohemagglutinin wing web assay, and for clearance of foreign particles from the circulatory system. Heritabilities of and genetic correlations among these immunological traits were calculated from the sire variance components. Heritability estimates of the immunological traits based on the sire component of variance ranged from .06 to .53, and genetic correlations among immunological traits were generally negative. PMID:1956847
Abstract Previous research has established the comorbidity of adult Attention-Deficit Hyperactivity Disorder (ADHD) with different personality disorders including Borderline Personality Disorder (BPD). The association between adult ADHD and BPD has primarily been investigated at the phenotypic level and not yet at the genetic level. The present study investigates the genetic and environmental contributions to the association between borderline personality traits (BPT) and ADHD symptoms in a sample of 7,233 twins and siblings (aged 18-90 years) registered with the Netherlands Twin Register and the East Flanders Prospective Twin Survey (EFPTS) . Participants completed the Conners' Adult ADHD Rating Scales (CAARS-S:SV) and the Personality Assessment Inventory-Borderline Features Scale (PAI-BO...
The objective of the present work is to study the chemical variation in Calophyllum inophyllum growing along the Western Ghats of India. Contents of dipyranocoumarins (inophyllums) in C.?inophyllum were determined to assess whether they could be used as a taxonomic marker for C.?inophyllum. This study also aims to establish inter simple sequence repeat (ISSR) markers that can be used to study genetic variation within the species and explore correlation between ISSR and chemical markers. The contents of dipyranocoumarins were estimated in seeds collected from 20 locations. Leaves from plants at the same 20 locations were assayed for ISSR variation. A dendrogram based on Nei?s genetic distance as well as principal component analysis based on dipyranocoumarins and ISSR variation clustered pla...
Abstract Alcohol drinking is highly prevalent in many cultures and contributes to the global burden of disease. In fact, it was shown that alcohol constitutes 3.2% of all worldwide deaths in the year 2006 and is linked to more than 60 diseases, including cancers, cardiovascular diseases, liver cirrhosis, neuropsychiatric disorders, injuries and foetal alcohol syndrome. Alcoholism, which has been proven to have a high genetic load, is one potentially fatal consequence of chronic heavy alcohol consumption, and may be regarded as one of the most prevalent neuropsychiatric diseases afflicting our society today. The aim of the integrated genome research network -Genetics of Alcohol Addiction--which is a German inter-/trans-disciplinary life science consortium consisting of molecular biologists,...
Clinical questionWhat is the best treatment for bacterial conjunctivitis?ResultsTopical antibiotics expedite recovery from bacterial conjunctivitis....Full Text Available
BackgroundA common approach to understanding the genetic basis of complex traits is through identification of associated quantitative trait loci (QTL). Fine mapping QTLs requires...Full Text Available
Successfully using artificial insemination (AI) is defined as getting cows pregnant when the farmer wants them in-calf and making the best use of appropriate genetic potential. Over the past...Full Text Available
Genetic studies of nicotine addiction in mice have utilized the oral self-administration model. However, it is unclear if strain differences in nicotine consumption are influenced by variation in bitter...Full Text Available
A common property of aging in all animals is that chronologically and genetically identical individuals age at different rates. To unveil mechanisms that influence aging variability, we identified markers...Full Text Available
Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available
In addition to the well documented role of cytokines in mediating tissue-level interactions, it is now clear that matrix macromolecules fulfil a complementary regulatory function. Data highlighted in...Full Text Available
The recent introduction of several transposable elements in zebrafish opens new frontiers for genetic manipulation in this important vertebrate model. This review discusses transposable elements as...Full Text Available
Transposon-based integration systems have been widely used for genetic manipulation of invertebrate and plant model systems. In the past decade, these powerful tools have begun to be used in...Full Text Available
BackgroundWhile the gene flow in some organisms is strongly affected by physical barriers and geographical distance, other highly mobile species are able to overcome such constraints....Full Text Available
Chronically elevated interleukin-6 (IL-6) affects lipid and lipoprotein metabolism. Individuals genetically predisposed to higher IL-6 secretion may be at risk of dyslipidemia, especially during the...Full Text Available
The world's oceans contain a complex mixture of micro-organisms that are for the most part, uncharacterized both genetically and biochemically. We report here a metagenomic study of the marine planktonic...Full Text Available
Cellular polarity is a fundamental property of every cell. Due to their extremely fast growth rate (≥1 μm/s) and their highly elongated form, filamentous fungi represent a prime example...Full Text Available
Genetic defects in the dystrophin-associated protein complex (DAPC) are responsible for a variety of pathological conditions including muscular dystrophy, cardiomyopathy, and vasospasm. Conserved DAPC...Full Text Available
Allen's Rule documents a century-old biological observation that strong positive correlations exist among latitude, ambient temperature, and limb length in mammals. Although genetic selection for thermoregulatory...Full Text Available
The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available
The development of new methods for gene addition to mammalian genomes is necessary to overcome the limitations of conventional genetic engineering strategies. Although a variety of DNA-modifying enzymes...Full Text Available
Disorders of mitochondrial fat metabolism lead to sudden death in infants and children. Although survival is possible, the underlying molecular mechanisms which enable this outcome have not yet been...Full Text Available
The technology of gene targeting through homologous recombination has been extremely useful for elucidating gene functions in mice. The application of this technology was thought impossible in the large...Full Text Available
The view of species as entities subjected to natural selection and amenable to change put forth by Charles Darwin and Alfred Wallace laid the conceptual foundation for understanding speciation. Initially...Full Text Available
SummarySoluble epoxide hydrolase (sEH) is a key enzyme in the metabolic conversion and degradation of P450 eicosanoids called epoxyeicosatrienoic acids (EETs). Genetic variations...Full Text Available
BackgroundCastor bean (Ricinus communis) is an agricultural crop and garden ornamental that is widely cultivated and has been introduced worldwide. Understanding...Full Text Available
BackgroundRecent evidence suggests that some sex differences in brain and behavior might result from direct genetic effects, and not solely the result of the organizational effects...Full Text Available
How an individual’s sex and genetic background modify cardiac adaptation to increased workload is a topic of great interest. We systematically evaluated morphological and physiological...Full Text Available
Although genetically identical for autosomal Chrs (Chr), male and female preimplantation embryos could display sex-specific transcriptional regulation. To illustrate sex-specific differences at the...Full Text Available
Journal of Human Genetics. 82: 873-882. 3134. Schulz, I., Schneider, P. M., Olek, K, Rothschild, M. A., and Tsokos, M. (2006) Examination of Postmortem Animal Interference to Human...
Though central to our understanding of how roots perform their vital function of scavenging water and solutes from the soil, no direct genetic evidence currently exists to support the foundational model...Full Text Available
A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available
...and biological processes acting on recruitment and post-recruitment EU-Agrinet - Project sheet: Biological performance testing methodology to evaluate the durability of plywood as a quality indicator ... Project sheet: Biological performance testing methodology to evaluate the durability of plywood as a quali EU-Agrinet - Project sheet: Genetic evaluation of European ...
BackgroundThe Class II DNA transposons are mobile genetic elements that move DNA sequence from one position in the genome to another. We have previously demonstrated that the naturally...Full Text Available
BackgroundSynonymous sites are freer to vary because of redundancy in genetic code. Messenger RNA secondary structure restricts this freedom, as revealed by previous findings in...Full Text Available
Most genetic changes that promote tumorigenesis involve dysregulation of G1 cell cycle progression. A key regulatory site in G1 is a growth factor–dependent restriction point (R) where cells...Full Text Available
Reverse genetics technology so far established for measles virus (MeV) is based on the Edmonston strain, which was isolated several decades ago, has been passaged in nonlymphoid cell lines, and is no...Full Text Available
The phylogeny and taxonomy of mammalian species were originally based upon shared or derived morphological characteristics. However, genetic analyses have more recently played an increasingly important...Full Text Available
Apolipoprotein (apo) A-IV is a polymorphic, intestinally derived apolipoprotein that is genetically linked to and similar in structure to apoA-I, the major apolipoprotein in high density lipoproteins...Full Text Available
Exact anatomic knowledge about the location of the gonads and the application of corresponding measures of radiation protection are the preconditions for an efficient reduction of the danger of a possible genetic damage as a result of radiation exposition during X-ray examination of the hip joint of newborns. (VJ).
Genetic algorithms (GA) were used to develop specific copper metal-ligand force field parameters for the MM3 force field, from a combination of crystallographic structures and ab initio...Full Text Available
The past decade has seen rapid advances in the identification of associations between candidate genes and a range of common multifactorial disorders. This paper evaluates public attitudes towards the...Full Text Available
Petal senescence, one type of programmed cell death (PCD) in plants, is a genetically controlled sequence of events comprising its final developmental stage. We characterized the pollination-induced...Full Text Available
BackgroundWith the advent of increasingly efficient means to obtain genetic information, a great insurgence of data has resulted, leading to the need for methods for analyzing this...Full Text Available
Plasmodium falciparum, the causative agent of human malaria, invades host erythrocytes using several proteins on the surface of the invasive merozoite, which have been proposed...Full Text Available
Human longevity is in part genetically determined, and the insulin/IGF-1 signal transduction (IIS) pathway has consistently been implicated. In humans, type 2 diabetes is a frequent disease that results...Full Text Available
Insulin resistance plays a central role in type 2 diabetes and obesity, which develop as a consequence of genetic and environmental factors. Dietary changes including high fat diet (HFD) feeding promotes...Full Text Available
The sequence in the first hypervariable segment (HVS-I) of the control region has been used as a source of evolutionary information in most phylogenetic analyses of mtDNA. Population genetic inference...Full Text Available
About 20% of adults are persistently colonized with S. aureus in the anterior nares. Host genetic factors could contribute susceptibility to this phenotype. The objective of...Full Text Available
BackgroundComplex etiology and pathogenesis of pathophysiological components of the cardio-metabolic syndrome have been demonstrated in humans and animal models.Methodology/Principal...Full Text Available
Despite the health-related benefits of exercise, many people do not engage in enough activity to realize the rewards, and little is known regarding the genetic or environmental components that account...Full Text Available
Phenylketonuria (PKU) is a common genetic disorder in humans that arises from deficient activity of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine....Full Text Available
Objectives:Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to disease phenotypes. Alzheimer disease (AD) has high heritability...Full Text Available
BackgroundOil palm (Elaeis guineensis Jacq.) is one of the most important oil bearing crops in the world. However, genetic improvement of oil palm through conventional...Full Text Available
Nuclear cloning is still a developing technique used to create genetically identical animals by somatic cell nuclear transfer into unfertilized eggs. Despite an intensive effort in a number...Full Text Available
The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available
Linkage disequilibrium (LD) between densely spaced, polymorphic genetic markers in humans and other species contains information about historical population size. Inferring past population size is of...Full Text Available
Various hypotheses have been proposed to explain the molecule processes of sarcomere assembly, partially due to the lack of systematic genetic studies of sarcomeric genes in an in vivo...Full Text Available
Mycobacterium tuberculosis is the etiologic agent of tuberculosis and can be accurately detected by laboratories using commercial genetic tests. Nontuberculosis mycobacteria (NTM) causing other mycobacterioses...Full Text Available
In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available
PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available
Vulnerability to abused drugs is influenced by multiple genes unique to each drug as well as to risk genes for polydrug abuse. If several inbred mouse strains respond to different drugs similarly,...Full Text Available
Microorganisms in the environment can often adapt to use xenobiotic chemicals as novel growth and energy substrates. Specialized enzyme systems and metabolic pathways for the degradation of man-made...Full Text Available
The overall objective of this project was to use molecular genetics to develop strains of bacteria with enhanced ability to remove sulfur from coal, and to obtain data that will allow the performance and economics of a coal biodesulfurization process to be predicted. (VC)
Transposable elements (TEs) comprise a large fraction of mammalian genomes. A number of these elements are actively jumping in our genomes today. As a consequence, these insertions provide a source...Full Text Available
BackgroundIdentification of global livestock diversity hotspots and their importance in diversity maintenance is essential for making global conservation efforts. We screened 52...Full Text Available
We have exploited ``progeny testing'' to map quantitative trait loci (QTL) underlying the genetic variation of milk production in a selected dairy cattle population. A total of 1,518 sires, with progeny...Full Text Available
Obesity and metabolic syndrome result from excess calorie intake and genetic predisposition and are mechanistically linked to type II diabetes and accelerated body aging; abnormal nutrient and insulin...Full Text Available
Many lessons in autoimmunity — particularly relating to the role of immune privilege and the interplay between genetics and neuroimmunology — can be learned from the study of alopecia...Full Text Available
BackgroundGenetic interactions within hybrids influence their overall fitness. Understanding the details of these interactions can improve our understanding of speciation. One experimental...Full Text Available
Large population sizes, rapid growth and 3.8 billion years of evolution firmly establish microorganisms as a major source of the planet's biological and genetic diversity. However, up to 99% of the...Full Text Available
Exploring the possibility of enhancing the properties of baculoviruses as biological control agents of insect pests, we tested the effect of expressing an insect gene (jhe) encoding juvenile hormone...Full Text Available
As the result of genetic alterations and tumor hypoxia, many cancer cells avidly take up glucose and generate lactate through lactate dehydrogenase A (LDHA), which is encoded by a target gene of c-Myc...Full Text Available
BackgroundModern approaches to treating genetic disorders, cancers and even epidemics rely on a detailed understanding of the underlying gene signaling network. Previous work has...Full Text Available
BackgroundPeak bone mass, attained by early adulthood, is influenced by genetic and life-style factors. Early infant feeding and duration of breastfeeding in particular, associate...Full Text Available
Baker's yeast (Saccharomyces cerevisiae) has been genetically engineered to ferment the pentose sugar xylose present in lignocellulose biomass. One of the reactions controlling the...Full Text Available
Mouse models have dramatically improved our understanding of cancer development and tumor biology. However, these models have shown limited efficacy as tractable systems for unbiased genetic...Full Text Available
Sensory analysis studies are critical in the development of quality enhanced crops, and may be an important component in the public acceptance of genetically modified foods. It has recently been established...Full Text Available
Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA...Full Text Available
The cottontail rabbit papillomavirus (CRPV)/rabbit model has been used to study oncogenicity and immunogenicity of different antigens from the papillomavirus genome and has therefore served...Full Text Available
The virtual lack of well-characterized metastatic pancreatic cancer tissues for study has limited systematic studies of the metastatic process of this deadly disease. To address this important...Full Text Available
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available
Random forest (RF) analysis of genetic data does not require specification of the mode of inheritance, and provides measures of variable importance that incorporate interaction effects. In this paper...Full Text Available
Using a genetic screen we have identified two chromosomal genes, cusRS (ylcA ybcZ), from Escherichia coli K-12 that encode a two-component, signal...Full Text Available
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features...Full Text Available
BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available
Many genetic processes depend on proteins interacting with specific sequences on DNA. Despite the large excess of nonspecific DNA in the cell, proteins can locate their targets rapidly. After initial...Full Text Available
Ovine and caprine lentiviruses share the capacity to induce slowly progressive and inflammatory diseases of the central nervous system (leukoencephalitis or visna), lungs (progressive pneumonia or maedi),...Full Text Available
Arbuscular mycorrhizal fungi (AMF) are ecologically important root symbionts of most terrestrial plants. Ecological studies of AMF have concentrated on differences between species; largely assuming...Full Text Available
Genetic effects on mechanical properties have been demonstrated in rodents, but not confirmed in primates. Our aim was to quantify the proportion of variation in vertebral trabecular bone mechanical...Full Text Available
Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides...Full Text Available
Chemical genetics is an emerging approach to investigate the biology of host-pathogen interactions. We screened several inhibitors of ATP-dependent DNA motors and detected the gyrase B inhibitor coumermycin...Full Text Available
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms...Full Text Available
BackgroundCucumber, Cucumis sativus L. is an important vegetable crop worldwide. Until very recently, cucumber genetic and genomic resources, especially molecular...Full Text Available
Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available
Stargardt-like macular degeneration (STGD3) is an early onset, autosomal dominant macular degeneration. STGD3 is characterized by a progressive pathology, the loss of central vision, atrophy...Full Text Available
DNA from the peripheral blood mononuclear cells of 17 different individuals infected with human T-cell lymphoma/leukemia virus type II (HTLV-II) was successfully amplified by the polymerase chain reaction...Full Text Available
The germplasm with exotic genomic components especially from Sea Island cotton (Gossypium barbadense L. Gb) is the dominant genetic resources to enhance fiber quality of upland cotton (G. hirsutum L., Gh). Due to low efficiency of phenotypic evaluation and selection on fiber quality, genetic dissection of favorable alleles using molecular markers is essential. Genetic dissection on putative Gb introgressions related to fiber traits were conducted by SSR markers with mapping populations derived from a cross between Luyuan343 (LY343), a superior fiber quality introgression line (IL) with genomic components from Gb, and an elite Upland cotton cv. Lumianyan#22 (LMY22). Among 82 polymorphic loci screened out from 4050 SSRs, 42 were identified as putative introgression alleles. A total of 29 fib...
Available in vitro and animal studies have shown cancer protective effects of tea polyphenols. Recent study suggests a greater protective effect of green tea intake on breast cancer...Full Text Available
Exercise is essential for health, yet the amount, duration, and intensity that individuals engage in are strikingly variable, even under prescription. Our focus was to identify the locations and effects...Full Text Available
... 16223, 16292, and 16295, which classify them as haplogroup W (Richards et al. 2000). The sample that was ... belonged to haplogroup B, 2 individuals belonged to haplogroup W, and 1 individual belonged to ...
In the context of social dilemmas, previous research has shown that human cooperation is mainly based on the social norm of conditional cooperation. While in most cases individuals behave according...Full Text Available
It is widely accepted that specific human papillomavirus (HPV) types are the central etiologic agent of cervical carcinogenesis. However, a number of infected women do not develop invasive lesions,...Full Text Available
γ-Aminobutyric acid (GABA)-ergic transmission is critical for normal cortical function and is likely abnormal in a variety of neuropsychiatric disorders. We tested the in...Full Text Available
Purpose of reviewSevere congenital neutropenia (SCN) is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial...Full Text Available
BackgroundBerberine is a plant alkaloid that is widely used as an anti-infective in traditional medicine. Escherichia coli exposed to berberine form filaments, suggesting...Full Text Available
The neuronal nitric oxide synthase gene (NOS1) is located at 12q24, a susceptibility region for schizophrenia, and produces nitric oxide (NO). NO has been reported to play important...Full Text Available
Keap1 regulates Nrf2 activity in response to xenobiotic and oxidative stresses. Nrf2 is an essential regulator of cytoprotective genes. Keap1-null mice are lethal by weaning age due...Full Text Available
Cigarette smoke (CS) induces recruitment of inflammatory cells in the lungs leading to the generation of reactive oxygen species (ROS), which are involved in lung inflammation and injury. Nicotinamide...Full Text Available
The genetic systems of bacteria that have the ability to use organic pollutants as carbon and energy sources can be adapted to create bacterial biosensors for the detection of industrial pollution....Full Text Available
Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of...Full Text Available
Most human diseases are related in some way to the loss or gain in gene functions. Regulation of gene expression is a complex process. In addition to genetic mechanisms, epigenetic causes are...Full Text Available
BackgroundParathyroid adenomas constitute the most common entity in primary hyperparathyroidism, and although recent advances have been made regarding the underlying genetic cause...Full Text Available
Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this...Full Text Available
BackgroundSevere sepsis and septic shock are major causes of morbidity and mortality worldwide. In experimental sepsis there is prominent apoptosis of various cell types, and genetic...Full Text Available
BackgroundNon-small cell lung cancer (NSCLC) is the foremost cause of cancer-related death in Western countries, which is due partly to the propensity of NSCLC cells to metastasize....Full Text Available
The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available
The effective population size (Ne) is an important parameter in ecology, evolutionary biology and conservation biology. It is, however, notoriously difficult to estimate,...Full Text Available
Objectives7. (b) Objectives General background Livestock production accounts for 70% of the agricultural land on the planet. Given that demand for livestock products is expected to double by 2050 it is vital that we identify less polluting ways of production, spanning both intensive and extensive systems. Northern Europe is one of the few parts of the globe where climate change is expected to be neutral or even benefit agricultural productivity. Hence it is likely to make an even more important co [continued...]DescriptionRuminant genetic improvement can play an important role in developing livestock systems that will be sustainable in the future, and produce food in an environmentally friendly manner. Also, genetic improvement of livestock is a particularly cost-effective technology, producing permanent and cumulative changes in performance. Moran et al (2007) showed the very high value of animal and plant genetics ...
Microbial degradation of aromatic hydrocarbons has been studied with the aim of developing applications for the removal of toxic compounds. Efforts have been directed toward the genetic manipulation...Full Text Available
The programming of cellular networks to achieve new biological functions depends on the development of genetic tools that link the presence of a molecular signal to gene-regulatory activity. Recently,...Full Text Available
BackgroundThere is an ever increasing rate of data made available on genetic variation, transcriptomes and proteomes. Similarly, a growing variety of bioinformatic programs are becoming...Full Text Available
While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available
Whereas genetic factors are known to influence both susceptibility to carcinogens and the capacity to respond to specific antigenic stimuli, little is known regarding the influence of phenotype per...Full Text Available
Molecular genetic analysis of Borrelia burgdorferi, the cause of Lyme disease, has been hampered by the absence of any means of efficient generation, identification, and complementation...Full Text Available
Denaturing high-performance liquid chromatography (DHPLC) has been used extensively to detect genetic variation. We used this method to detect and identify Yersinia pestis KIM5 ciprofloxacin-resistant...Full Text Available
Many epidemiological evidences have proven the association between smoking and periodontal disease. The causality can be further established by linking findings of traditional epidemiological studies...Full Text Available
DNA barcodes linked to genetic features greatly facilitate screening these features in pooled formats using microarray hybridization, and new tools are needed to design large sets of barcodes to allow...Full Text Available
OBJECTIVEPrevious studies showed that genetic deletion or pharmacological blockade of the receptor for advanced glycation end products (RAGE) prevents the early structural changes...Full Text Available
Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been...Full Text Available
The extensive diversity of Plasmodium falciparum antigens is a major obstacle to a broadly effective malaria vaccine but population genetics has rarely been used to guide vaccine design....Full Text Available
Competent Haemophilus cells recognize and preferentially take up Haemophilus DNA during genetic transformation. This preferential uptake is correlated with the presence on incoming DNA of an 11-base-pair...Full Text Available
Enterotoxigenic Escherichia coli (ETEC) is a leading cause of diarrhea in travelers to countries where the disease is endemic and causes a major disease burden in the indigenous population,...Full Text Available
Alveolar enlargement, which is characteristic of bronchopulmonary dysplasia, congenital matrix disorders, and cigarette smoke-induced emphysema, is thought to result from enhanced inflammation and ensuing...Full Text Available
The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development...Full Text Available
Comparative genetic maps of Papuan Saccharum officinarum L. (2n = 80) and S. robustum (2n = 80) were constructed by using single-dose...Full Text Available
Endometrial carcinoma is the most commonly diagnosed gynaecological cancer in developed countries. Although the molecular genetics of this disease has been in the focus of many research laboratories...Full Text Available
Phosphorus is an essential mineral that maintains cellular energy and mineralizes the skeleton. Because complex actions of ion transporters and regulatory hormones regulate serum phosphorus concentrations,...Full Text Available
Mechanisms regulating sexual differentiation of the zebra finch song system appear to include both genetic and hormonal factors. Sorting Nexin 2 (SNX2), which is involved in trafficking proteins...Full Text Available
BackgroundThe southern African tick shell, Nassarius kraussianus (Dunker, 1846), has been identified as being the earliest known ornamental object used by human...Full Text Available
A high-throughput assay for enzyme activity has been developed that is reaction independent. In this assay, a small-molecule yeast three-hybrid system is used to link enzyme catalysis to transcription...Full Text Available
Calcium, vitamin D, exposure to sunshine, and vitamin D receptor (VDR) genotypes have been associated rectal cancer. We used data from 750 rectal tumors and 1,205 population-based...Full Text Available
Although salamanders are characteristic amphibians in Holarctic temperate habitats, in tropical regions they have diversified evolutionarily only in tropical America. An adaptive radiation centered...Full Text Available
The honeybee has been the most important insect species for study of social behavior. The recently released draft genomic sequence for the bee will accelerate honeybee behavioral genetics. Although...Full Text Available
Introduction:Smoking behaviors, including heaviness of smoking and smoking cessation, are known to be under a degree of genetic influence. The enzyme catechol O-methyltransferase...Full Text Available
Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available
BackgroundLifestyle, genetics and environmental factors are established determinants of bone density. We aimed to describe the bone characteristics of competitive top-ranked Nigerian...Full Text Available
The Wistar Kyoto (WKY) rat strain is a putative genetic model of comorbid depression and anxiety. Previous research showing increased κ-opioid receptor (KOR)...Full Text Available
Pharmacologic or genetic deletion of components of the renin-angiotensin system leads to postnatal kidney injury, but the roles of these components in kidney development are unknown. To test the hypothesis...Full Text Available
BackgroundMany commercial banana varieties lack sources of resistance to pests and diseases, as a consequence of sterility and narrow genetic background. Fertile wild relatives,...Full Text Available
BackgroundType A1 Clostridium botulinum strains are a group of Gram-positive, spore-forming anaerobic bacteria that produce a genetically, biochemically, and biophysically...Full Text Available
BackgroundGenomics has substantially changed our approach to cancer research. Gene expression profiling, for example, has been utilized to delineate subtypes of cancer, and facilitated...Full Text Available
Signatures of natural selection occur throughout the human genome and can be detected at the sequence level. We have re-sequenced ABCE1, a host candidate gene essential for...Full Text Available
BackgroundMalaria resistance by the sickle cell trait (genotype HbAS) has served as the prime example of genetic selection for over half a century. Nevertheless, the mechanism...Full Text Available
Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available
A remarkable discovery of recent years is that, despite the complexity of ageing, simple genetic interventions can increase lifespan and improve health during ageing in laboratory animals. The pathways...Full Text Available
Genetic test systems involving microorganisms and liver enzyme preparations may be insufficient to detect compounds that require breakdown by enzymes provided by the microbial flora of the intestinal...Full Text Available
Reciprocal mass crosses and back-crosses were performed between two homogeneous strains of the housefly (Musca domestica L.), representing the extremes in susceptibility and resistance...Full Text Available
A statistical method is presented for detecting quantitative trait loci (QTLs), based on the linear model. Unlike methods able to detect a few well separated QTLs and to estimate their effects and positions, this method considers the genome as a whole and enables the detection of chromosomal segments involved in the differences between two homozygous lines, and their backcross, doubled haploid, or F[sub 2] progenies, for a quantitative trait. Genetic markers must be codominant, but missing markers are accepted, provided they are missing independently from the experiment. Asymptotic properties, which are of practical use, are developed. This method does not rely on strong genetic hypotheses, and thus does not permit any precise genetic analysis of the trait under study, but it does assess which regions of the genome are involved, whatever the complexity of the genetic determinism (number, effects and ...
ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million...Full Text Available
BackgroundStable transgenesis is an undeniable key to understanding any genetic system. Retrovirus-based insertional strategies, which feature several technical challenges when they...Full Text Available
During complementary chromatic adaptation (CCA), cyanobacterial light harvesting structures called phycobilisomes are restructured in response to ambient light quality shifts. Transcription of genes...Full Text Available
Picocyanobacteria of the genus Synechococcus are important contributors to marine primary production and are ubiquitous in the world's oceans. This genus is genetically diverse, and...Full Text Available
Fate maps are generated by marking and tracking cells in vivo to determine how progenitors contribute to specific structures and cell types in developing and adult tissue. An advance in this...Full Text Available
Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available
...treated for leukemia. B' s physician, who is employed by the HMO, is considering a treatment plan that includes six-mercaptopurine, a drug for treating leukemia in most children. However, the drug could be fatal if taken by a small percentage of...
In this paper the Sudoku problem is solved using stochastic search techniques and these are: Cultural Genetic Algorithm (CGA), Repulsive Particle Swarm Optimization (RPSO), Quantum Simulated Annealing (QSA) and the Hybrid method that combines Genetic Algorithm with Simulated Annealing (HGASA). The results obtained show that the CGA, QSA and HGASA are able to solve the Sudoku puzzle with CGA finding a solution in 28 seconds, while QSA finding a solution in 65 seconds and HGASA in 1.447 seconds. This is mainly because HGASA combines the parallel searching of GA with the flexibility of SA. The RPSO was found to be unable to solve the puzzle.
In this paper, it is suggested that the selection method of optimal parameter of power system stabilizer (PSS) with robustness in low frequency oscillation for power system using real variable elitism genetic algorithm (RVEGA). The optimal parameters were selected in the case of power system stabilizer with one lead compensator, and two lead compensator. Also, the frequency responses characteristics of PSS, the system eigenvalues criterion and the dynamic characteristics were considered in the normal load and the heavy load, which proved usefulness of RVEGA compare with Yu's compensator design theory. (author). 20 refs., 15 figs., 8 tabs.
Gaussian-process models are developed to detect genetic linkage using complete high-resolution maps of identity by descent between affected relative pairs. Approximations are given for the significance level and power of the likelihood-ratio test of no linkage and for likelihood-ratio confidence regions for trait loci. The sample sizes required to detect linkage by using different classes of affected relative pairs are compared, and the problem of combining data from different classes of relatives is discussed. 23 refs., 2 figs.
The genetically and leukemia-significant doses (GSD and LSD) were calculated from the average gonad and bone marrow doses caused by the most frequently applied radiopharmaceuticals in Bulgaria in 1976. Because of the lack of information about the age groups of the patients examined assumptions have been made which led to estimated values of 0.97 mrad for GSD and 2.0 mrad for LSD which must be considered as the upper limit of the real GSD and LSD. The influence of the different radiopharmaceuticals on the average radiation exposure of the population is discussed. (author).
Abstract The white sea bream, Diplodus sargus (Teleostei, Sparidae), is a species with a high commercial importance in Mediterranean aquaculture. There is currently little information available about the genetic characteristics of cultured populations. In this survey, we have developed eight polymorphic microsatellites for the white sea bream using an enriched genome library protocol. All of them were polymorphic in the 67 individuals tested, 32 of which were wild specimens, and 35 were individuals from a captive F1 broodstock. These markers can potentially be useful tools for use in population genetic studies.
A colony PCR technique was applied for both genomic and chloroplast DNA in the green microalgae Chlorella. Of five different lysis buffers, Chelex-100 was superior for DNA extraction, PCR and DNA storage. It also was insensitive to variations in cell density. The conditions established for an improved PCR formulation are applicable for screening of genetically-engineered transformants as well as bioprospecting of natural microalgal isolates. Besides multiple Chlorella species, we also demonstrate the efficacy of Chelex-100 for colony PCR with a number of other microalgal strains, including Chlamydomonas reinhardtii, Dunaliella salina, Nannochloropsis sp., Coccomyxa sp., and Thalassiosira pseudonana. PMID:21431847
During one year more than 40,000 items of information on radiation exposure of personnel involved in the handling of radiation sources and more than 5,000,000 items on irradiation of other people are collected in the authors' laboratory. Considerable progress in assessment of mean annual gonad dose of genetically sifnificant dose was attained by means of an algorithm for a personal computer. This simple and inexpensive system has led to a higher accuracy in the application of protective measures. (author).
Negligent hazardous waste management has resulted in real threats to public health. The Federal Government has responded to the situation with laws and regulations aimed at the producers of hazardous waste, including clinical laboratories. The Resources Conservation and Recovery Act (RCRA) imposes controls on hazardous waste management through the Code of Federal Regulations (CFR). The Environmental Protection Agency (EPA) and the Department of Transportation (DOT) regulate these activities through 40 CFR and 49 CFR. Most clinical laboratories can operate satellite accumulation points and accumulate, store, transport, and dispose of waste in accordance with EPA and DOT regulations. Regulations pertaining to infectious waste, sure to affect many clinical laboratories, are being developed now by he EPA. The cradle to grave tracking system mandated by the Federal Government can be supplemented by state and local authorities ...
BackgroundAlthough self-expandable metal stent (SEMS) insertion is widely used for relief of malignant colorectal obstructions, the immediate technical and clinical failure rates of SEMSs and the associated risk factors remain largely unknown. ObjectiveTo identify rates and factors predictive of technical and clinical failure of SEMSs when their use is attempted for the decompression of malignant colorectal obstruction. DesignRetrospective chart review. SettingA tertiary-care academic medical center in South Korea. PatientsThis study involved a total of 412 patients with malignant colorectal obstruction in whom SEMS insertion was attempted. InterventionPlacement of colonic SEMSs. Main Outcome MeasurementsTechnical success and immediate and long-term clinical success rates. ResultsTechnical...
Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region ...
To determine clinical predictors and accuracy of {sup 123}I-FP-CIT SPECT imaging in the differentiation of drug-induced parkinsonism (DIP) and Parkinson's disease (PD). Several clinical features and {sup 123}I-FP-CIT SPECT images in 32 patients with DIP, 25 patients with PD unmasked by antidopaminergic drugs (PDu) and 22 patients with PD without a previous history of antidopaminergic treatment (PDc) were retrospectively evaluated. DIP and PD shared all clinical features except symmetry of parkinsonian signs which was more frequently observed in patients with DIP (46.9%) than in patients with PDu (16.0%, p<0.05) or PDc (4.5%, p<0.01). Qualitatively {sup 123}I-FP-CIT SPECT images were normal in 29 patients with DIP (90.6%) and abnormal in all patients with PD, and this imaging technique showed high levels of accuracy. DIP and PD are difficult to differentiate based on clinical ...
Eliminating anterior tooth contact is paramount when treating combination syndrome. It is possible to do so through the use of linear occlusion with a non-interceptive arrangement and the bilateral fulcrum of protrusive stability. The presence of mandibular anterior teeth often complicates this procedure. When establishing the horizontal plane of occlusion, clinical circumstances often necessitate modifications; nevertheless, certain principles must be incorporated into the design of the prostheses. Clinical circumstances may dictate altering the approach but these principles must be maintained to eliminate anterior hyperfunction. PMID:15055634
Twenty-five patients with ovarian carcinoma who had been operated and treated with chemotherapy underwent clinical examination and CT before reintervention (second-look laparotomy) to detect the presence of eventual recurrences. The prediction of recurrence based on CT and clinical findings was compared with the surgical findings at reintervention. CT proved to be more accurate than clinical examination in detecting recurrences; this was especially true for masses in the abdominal cavity, with the exception of small peritoneal nodules. The authors suggest the use of CT for staging the patients candidate to reintervention. This might help to avoid reintervantion in patients with persistent disease and to plan treatment.
Interferons, a group of cytokines with antiangiogenic, direct antitumour and immunostimulating properties, have shown significant activity against osteosarcoma in vitro and in xenograft models. They have also been used in osteosarcoma clinical trials as a single adjuvant to surgery, with an apparent increase in relapse-free survival. In the ongoing EURAMOS 1 clinical trial, interferon a-2b is evaluated as an adjuvant treatment in osteosarcoma. This article reviews the rationale for the use of interferon in cancer with special reference to the treatment of osteosarcoma, including all published data of clinical efficacy in this disease. Pediatr Blood Cancer 2010;54:350-354. Copyright 2009 Wiley-Liss, Inc.
The current role of magnetic resonance imaging (MRI) in different organ systems is discussed and compared to nuclear medicine and to other available clinical diagnostic modalities. The value of optimizing radiofrequency pulse sequence selection to provide additional tissue characterization is also described. The results of nuclear medicine and MRI studies in 56 patients are compared to evaluate the clinical diagnostic contribution of each imaging modality for various pathological processes. In addition, the state-of-the-art MRI systems and future development in MRI technology with its potential contribution is defined.
Clinical and hormonal indices of androgenic activity were compared in 118 males chronically intoxicated with alcohol. The population was divided into two groups with respect to their clinical and hormonal androgenic indices: 76 patients with (Group 1), and 46 patients without (Group 2) androgenic insufficiency. Distinct signs and syndromes of alcohol addiction were shown to correlate with the extent of cross-regulation impairment within hypothalamo-hypophyseo-gonadal system. This was particularly derived from comparison of clinical picture of chronic alcohol intoxication and hormone activity in the groups. Conventional therapy failed to restore the neuroendocrine indices that was apparently due to inhibition of cross-regulation links in the hypothalamo-hypophyseo-gonadal system at several stages of alcohol addiction. PMID:3223149
BackgroundApproximately 25% of ischemic stroke patients awaken with neurological deficits. In these patients, in whom the time from symptom onset is uncertain, brain imaging is a...Full Text Available
BackgroundOxidative stress has been proposed as a mechanism linking the poor placental perfusion characteristic of preeclampsia with the clinical manifestations of...Full Text Available
Background. The role of vitamin D in the body's ability to fight influenza and URI's may be dependent on regulation of specific cytokines that participate in the host inflammatory...Full Text Available
Assessment of the results of laminectomy for lumbar disc lesions is unsatisfactory, but it seems that some degree of recurrent pain is virtually inevitable. The clinical features and incidence of the...Full Text Available
Background:To encourage evidence-based practice, an Annals of Internal Medicine editorial called for a new professional on clinical teams: an informationist trained...Full Text Available
Selection of the appropriate radiation quality is an important aspect of optimisation for every clinical imaging task in radiology, since it affects both image quality and patient dose. Spreadsheet...Full Text Available
The Johns Hopkins Hospital has initiated an ambitious program to apply modern technologies to the development of a new, comprehensive clinical information system. One component of this system is a...Full Text Available
PurposeTo describe etiologies and clinical characteristics of corneal opacities leading patients to seek cosmetic treatments.MethodsThe medical records...Full Text Available
Hyaluronan (HA), a non-sulfated glycosaminoglycan, is widely used in the clinic for viscosurgery, viscosupplementation, and treatment of osteoarthritis. Four decades of chemical modification...Full Text Available
... was associated with at least some 360 intent to ... herself, at least to 366 some degree, can be ... As prospective assessment instruments for suicidality are created ...
BackgroundTo identify the differential tuberculosis (TB) characteristics within the immigrant population with respect to natives in Spain.Methodology/Principal...Full Text Available
The early and precise diagnosis, the prognosis, and the clinical management of multiple sclerosis, remain a considerable challenge. In recent years, the development of novel and powerful proteomic...Full Text Available
BackgroundPreclinical models of pediatric cancers are essential for testing new chemotherapeutic combinations for clinical trials. The most widely used ...Full Text Available
The purpose of this article is to review the literature for clinical presentation, treatment, outcome and complications of using radiotherapy for the treatment of orbital lymphoma. For this, MEDLINE,...Full Text Available
Purpose. To describe the characteristics of idiopathic macular holes (MH) on optical coherence tomography (OCT) and correlate OCT with clinical assessment. Design....Full Text Available
We review the cases of 19 successfully treated plague patients, with emphasis on the clinical and epidemiologic features of the disease. Proper staining and culturing of bubo aspirates; prompt institution...Full Text Available
Schizophrenia is a heterogeneous psychiatric disorder in which multiple neurotransmitter systems have been implicated. Increased and decreased dopamine transmission in the subcortical meso-limbic and...Full Text Available
ObjectiveNeuralgic amyotrophy (NA) is a distinct clinical syndrome that is characterized by the acute onset of shoulder and arm pain, weakness, and sensory loss. The purpose of this...Full Text Available
Necrotizing sialometaplasia, is a benign inflammatory lesion primarily involving the minor salivary glands of the hard palate. The lesion often presents itself as a deep-seated palatal ulcer with clinical...Full Text Available
The Model for the Assessment of Psychosocial Problems (MAPP) can help family medicine residents effectively assess patients with psychosocial problems. Following a patient-centred clinical method, MAPP...Full Text Available
A case of intraocular coenurosis was clinically diagnosed and treated with praziquantel. The drug destroyed the coenurus, but vision was lost through toxic endophthalmitis and retinal detachment. There...Full Text Available
The need for material standards in the field of clinical immunology, together with the mode of operation of the combined World Health Organization/International Union of Immunological Societies programme...Full Text Available
To discuss and share knowledge around advances in the care of patients with thrombotic disorders, the Third International Symposium of Thrombosis and Anticoagulation was held in S?o Paulo, Brazil, from October 14?16, 2010. This scientific program was developed by clinicians for clinicians, and was promoted by four major clinical research institutes: the Brazilian Clinical Research Institute, the Duke Clinical Research Institute of the Duke University School of Medicine, the Canadian VIGOUR Centre, and the Uppsala Clinical Research Center. Comprising 3?days of academic presentations and open discussion, the symposium had as its primary goal to educate, motivate, and inspire internists, cardiologists, hematologists, and other physicians by convening national and international visionaries, th...
A group of patients is described who developed the clinical features of foveomacular retinitis. No causative factors were isolated, and all patients strongly denied any type of sun gazing. It is possible...Full Text Available
The supernatural fears associated with the experience of isolated sleep paralysis in the culture of developing countries is sometimes associated with the evolution of somatic symptoms of psychological...Full Text Available
This Memorandum describes the following aspects of legionellosis: clinical presentations of legionella infection, general epidemiology (including nosocomial outbreaks and travel-associated legionnaires'...Full Text Available
BackgroundThe aim of this report was to describe duodenal obstruction caused by a rubber foreign body in a cow.Case PresentationThe clinical, biochemical...Full Text Available
Cutaneous scarring can cause patients symptoms ranging from the psychological to physical pain. Although the process of normal scarring is well described the ultimate cause of pathological scarring...Full Text Available
138 unselected head tomographies of children by computer are reported and analysed. The major aspect stressed by the authors is the excellent precision of this radiological technique.
The importance of designating criteria for diagnosing dementia lies in its implications for clinical treatment, research, caregiving, and decision-making. Dementia diagnosis in Huntington's...Full Text Available
The purpose of this study was to compare the clinical outcomes and wound complications in coccygectomy with or without subperiosteal resection. This retrospective study included 25 patients who underwent...Full Text Available
In general, the etiologic factors of chronic paranasal sinusitis are systemic conditions such as nutrition, predisposition, allergy, and local factors such as nasal anatomic conditions. Among these...Full Text Available
Primary cardiac angiosarcoma is a rare cardiac tumor. The initial clinical course is often asymptomatic, and metastatic disease is present in a majority of affected patients at diagnosis. We present...Full Text Available
This book discusses the procedures applied for the clinical nuclear medicine laboratory. The procedures are presented as proven guidelines. The chapters are included on quality assurance, radionuclide handling, and radiation safety.
Experience gained with a wide variety of missile injuries of the brain is presented. Clinical signs and intracranial pressure (ICP) studied in the early post-injury period have been correlated with...Full Text Available
Breast cancer in the elderly has attracted considerable interest in recent years for three main reasons. Firstly, information concerning the profile (clinical and biological) of the disease in the geriatric...Full Text Available
In eight patients with Ewing's sarcoma bone scans were performed using "9"9"mTc-MDP. This procedure rendered possible the diagnosis of clinically or radiologically silent metastases. (orig.).
BackgroundThe metagenomic analysis of microbial communities holds the potential to improve our understanding of the role of microbes in clinical conditions. Recent, dramatic improvements...Full Text Available
The Systems Development Group and the Pharmacy Service of the Washington D.C. VAMC are involved in automating the administrative and clinical data requirements of a satellite out-patient pharmacy....Full Text Available
... radiation during clinical therapy and exposures due to radiation accidents or attacks, in which the doses are uncontrolled ... only be used off-label in victims of radiation accidents or attacks. The idea...
Training of health professionals commonly involves multiple sites in order to best utilize the available clinical material. However, this makes it difficult to achieve continuity in the presentation...Full Text Available
The stable introduction of therapeutic transgenes into human cells can be accomplished using viral and nonviral approaches. Transduction with clinical-grade recombinant viruses offers the potential...Full Text Available
The avermectins were introduced in 1981 and constitute a potent new class of anthelmintic agents. They are naturally-derived products of microbial action displaying an exceptionally wide range of antiparasitic...Full Text Available
BackgroundAdequate pain assessment is critical for evaluating the efficacy of analgesic treatment in clinical practice and during the development of new therapies. Yet the currently...Full Text Available
Raeder described five patients with mixed features of trigeminal nerve pathology and oculosympathetic impairment, with or without other cranial nerve lesions. This constellation of clinical features...Full Text Available
The medical applications of radiation comprise three main fields namely: Diagnostic Radiology, Radiotherapy and Nuclear Medicine. With the new weighting factors of ICRP (IC91a) the effective dose due to medical applications can be established. I is common to separate the effective dose into the genetic part and the somatic part, SED. In dealing with gonad doses it is important to account for the age of the person at the time of exposure as this will influence the number of children still to be expected from that person. The resulting dose will then be called the genetically significant dose, GSD. In a similar fashion this age factor will be important in considering the chance of tumor induction. The age of patients differs considerably from the average age of the general population. This age difference has to be accounted for if a comparison is to be made with other sources of radiation. This justifies establishing a somatically significant ...
Dose measurements were performed in several body regions of patients suffering from inflammatory degenerative diseases (humeral epicondylitis, humeroscapular periarthritis, gonarthrosis, axillary hidradenitis, rheumatoid arthritis, coxarthrosis, parotitis). The problem of the radiation induction of neoplasms is predominant concerning somatic as well as genetic risk, discussed by example of the most frequently occurring organ cancer. Compared to the rate of breast cancer in the highly developed industrial states (5,000 to 6,000 cancers/100,000 women) the 'radiation induction' calculated according to a mathematical model of ICRP 26 (1.25 cases of death for breast cancers/100,000 women following for example irradiation of epicondylitis) is behind several powers of ten and not demonstrable. The genetic radiation exposure is also low. Derived from the measurements it is wrong to give up reliable and approved indications of radiotherapy of ...