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The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.

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The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. ...

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A patient with Cushing's syndrome due to a nonresectable chromophobe adenoma underwent external irradiation of the hypothalamic-pituitary area. The signs of Cushing's syndrome ameliorated subsequently...Full Text Available

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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...

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Electrophoretic analysis of protein variation at the coagulation F13B locus has previously revealed three alleles, with alleles 1, 2, and 3 each being at high frequency in European,...Full Text Available

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AIMS/BACKGROUND: This study was undertaken to document visual function and acuity in patients with Aicardi syndrome, and to determine whether there is any relation between ocular features of the syndrome...Full Text Available

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A previously unrecognized form of nystagmus associated with esotropia was described in the German literature by Adelstein and Cüppers in 1966 as the nystagmus blockage syndrome. Even though...Full Text Available

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Background/AimTo assess pathophysiology in irritable bowel syndrome (IBS).Methods122 IBS patients...Full Text Available

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The cause of the female urethral syndrome has previously been obscure, as it has been associated by definition with a lack of objective findings but a plethora of subjective complaints of retropubic...Full Text Available

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This report describes our initial attempts at the molecular characterization of a maize controlling element. We have prepared a cDNA probe and used it to detect changes at a locus where Ds elements are found. Evidence of their presence are indicated by changes in the restriction patterns, but there is as yet no information on the physical nature of the controlling elements nor on the kinds of rearrangements they cause.

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UK PubMed Central (United Kingdom)

Although recent data established that a specific very-long-chain fatty acyl-CoA synthetase is defective in X-linked adrenoleukodystrophy (ALD), the ALD gene is still unidentified. The ALD locus has...Full Text Available

UK PubMed Central (United Kingdom)

A quantitative trait locus (QTL) analysis designed for a multi-parent population was carried out and tested in oil palm (Elaeis guineensis Jacq.), which is a diploid cross-fertilising...Full Text Available

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BackgroundThe TNF/LTA locus has been a long-standing T2D candidate gene. Several studies have examined association of TNF/LTA...Full Text Available

Science.gov (United States)

... 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 ...

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Deficits in prepulse inhibition (PPI) are a biological marker for schizophrenia. To unravel the mechanisms that control PPI, we performed quantitative trait loci (QTL) analysis on 1,010 F2 mice derived...Full Text Available

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In Staphylococcus aureus, a pronounced shift in position of the acriflavin resistance locus was observed when gene order was determined by marker frequency analysis of cells of various ages. In young cells (2-hour culture), acriflavin resistance was mappe...

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Aluminum toxicity is a major problem in agriculture worldwide. Among the cultivated Triticeae, rye (Secale cereale L.) is one of the most Al tolerant and represents an important potential...Full Text Available

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Wiskott-Aldrich syndrome protein (WASp) is essential for optimal T cell activation. Patients with WAS exhibit both immunodeficiency and a marked susceptibility to systemic autoimmunity. We investigated...Full Text Available

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BackgroundMost studies on children with chronic fatigue syndrome (CFS)/myalgic encephalomyelitis (ME) have been undertaken in tertiary care and little is known about their management...Full Text Available

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Irritable bowel syndrome is a frequent gastrointestinal disorder of unknown etiology. The serotonin transporter regulates the intensity and duration of serotonin signaling in the gut and is,...Full Text Available

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Background. For unknown reasons, the prevalence of thyroid autoimmune disorders is higher in patients with Down's syndrome than in the general population. The present case strongly...Full Text Available

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This paper assesses the hypothesis that depressive syndrome is associated with socioeconomic status, using longitudinal data from the Baltimore Epidemiologic Catchment Area Followup. Socioeconomic...Full Text Available

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Severe acute respiratory syndrome (SARS) is an infectious disease caused by a novel coronavirus that cost nearly 800 lives. While there have been no recent outbreaks of the disease, the threat...Full Text Available

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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

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Study objectives:To verify the existence of a symptomatic form of restless legs syndrome (RLS) secondary to multiple sclerosis (MS) and to identify possible associated risk factors.Design:Prospective,...Full Text Available

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Understanding the dynamics of porcine reproductive and respiratory syndrome virus (PRRSV) vertical transmission is important to enhance the accuracy of monitoring protocols for endemically infected...Full Text Available

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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

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Lumbar epidural anesthesia is useful in a variety of chronic benign pain syndromes, including lumbar radiculopathy, low back pain syndrome, spinal stenosis, and vertebral compression fractures. Given...Full Text Available

UK PubMed Central (United Kingdom)

AIM: To investigate clinical characteristics associated with the presence of irritable bowel syndrome (IBS) symptoms in hemodialysis (HD) patients.METHODS: This was a cross-sectional study. A...Full Text Available

UK PubMed Central (United Kingdom)

Low back pain is common during pregnancy. However, the prevalence of symtomatic lumbar disc herniation is rare, and cauda equina syndrome due to disc herniation during pregnancy is even rarer. We report...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundRestrictions on the nonurgent use of hospital services were imposed in March 2003 to control an outbreak of severe acute respiratory syndrome (SARS) in Toronto, Ont. We...Full Text Available

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XMRV or xenotropic murine leukemia virus-related retrovirus, a recently discovered retrovirus, has been linked to both prostate cancer and chronic fatigue syndrome (CFS). Recently, the teams of Drs....Full Text Available

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BackgroundWhite spot syndrome (WSS) is a viral disease that affects most of the commercially important shrimps and causes serious economic losses to the shrimp farming industry worldwide....Full Text Available

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Evidence suggests that patients with irritable bowel syndrome (IBS) are hyper-responsive to environmental, physical, and visceral stimuli. IBS patients also frequently report poor sleep quality....Full Text Available

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IntroductionA rare side effect of antipsychotic medication is neuroleptic malignant syndrome, mainly characterized by hyperthermia, altered mental state, haemodynamic dysregulation,...Full Text Available

CERN Document Server

In source coding, either with or without side information at the decoder, the ultimate performance can be achieved by means of random binning. Structured binning into cosets of performing channel codes has been successfully employed in practical applications. In this letter it is formally shown that various convolutional- and turbo-syndrome decoding algorithms proposed in literature lead in fact to the same estimate. An equivalent implementation is also delineated by directly tackling syndrome decoding as a maximum a posteriori probability problem and solving it by means of iterative message-passing. This solution takes advantage of the exact same structures and algorithms used by the conventional channel decoder for the code according to which the syndrome is formed.

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Portuguese 1984. p. 127. Brazil Giannella Neto, D. Santomauro, ATMG

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Background: Recent series describing the clinical presentation, response to therapy, and long-term outcome of Zollinger-Ellison syndrome are limited. Aims: To assess the clinical characteristics and long-term outcome of patients with Zollinger-Ellison syndrome. Methods: Over a 20-year period, patients with Zollinger-Ellison syndrome were enrolled in a prospective trial evaluating the efficacy of lansoprazole. Following dose stabilization, patients were followed on a 6-monthly basis with interval history, physical examination, endoscopy with gastric biopsies, gastric acid analysis and laboratory studies. Results: 72 patients (mean age 54+/-12 years, % male 58%, % Caucasian 69%) were prospectively enrolled. The clinical presentation was stereotypical for Zollinger-Ellison syndrome. Symptoms ...

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/sup 99m/Tc biliary imaging was performed on a 34-year-old woman who was being investigated for suspected cholelithiasis. A left-sided liver was detected. On subsequent radionuclide imaging, partial visceral situs inversus and asplenia were demonstrated. Extensive roentgenographic investigation, ECG, echocardiogram, and laparotomy confirmed the radionuclide findings. Asplenia syndrome may exist without cardiovascular abnormalities and thus be undiscovered. Radionuclide imaging is important in the diagnosis of this syndrome.

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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)

International Nuclear Information System (INIS)

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)

International Nuclear Information System (INIS)

Portuguese 1984. p. 147. Brazil Accursio, WJ Vieira, JGH Kater, CE Chacra,

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

Although the cause and development of most inflammatory and fibrotic interstitial lung diseases are unknown, both the antigenic stimuli and the immunopathogenic mechanisms that produce the syndrome...Full Text Available

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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

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Aims.- To examine the relationships between depression, coronary artery disease, type 2 diabetes, metabolic syndrome and quality of life in Taiwanese adults from a cardiovascular department of a major hospital in Taiwan. Background.- Research suggests associations between depression, metabolic syndrome and quality of life. Despite this fact, few studies have investigated these relationships among Taiwanese. Design.- A cross-sectional descriptive correlational design was used to conduct this study. Methods.- A convenience sample of 140 adults participated in the study. Data were analysed with descriptive statistics, Pearson-s correlations, hierarchical regression and t-tests. Results.- Almost a half of the subjects (465%) had metabolic syndrome. The most common combination of metabolic synd...

UK PubMed Central (United Kingdom)

Prolonged disability is best understood as an illness that exists independently of the initiating disease. The disabled individual goes through predictable stages of disability before resolution occurs....Full Text Available

UK PubMed Central (United Kingdom)

Snakebite envenomation is an uncommon condition in the northern hemisphere, but requires high vigilance with regard to both the systemic effects of the venom and the locoregional impact on the soft...Full Text Available

UK PubMed Central (United Kingdom)

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated...Full Text Available

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Molybdopterin (MPT) is not produced by the Escherichia coli mutants chlA1, chlM, or chlN or by the Neurospora crassa mutant nit-1. Extracts of E. coli chlA1 contain an activity, the converting factor,...Full Text Available

UK PubMed Central (United Kingdom)

We used microarrays and a previously established linkage map to localize the genetic determinants of brain gene expression for a backcross family of lake whitefish species pairs (Coregonus sp.). Our...Full Text Available

UK PubMed Central (United Kingdom)

Recent GWAS studies focused on uncovering novel genetic loci related to AD have revealed associations with variants near CLU, CR1, PICALM and BIN1....Full Text Available

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We have identified another Drosophila GTP-binding protein (G protein) alpha subunit, dGq alpha-3. Transcripts encoding dGq alpha-3 are derived from alternative splicing of the dGq alpha locus previously...Full Text Available

UK PubMed Central (United Kingdom)

We conducted a genome-wide association study of gastric cancer (GC) and esophageal squamous cell carcinoma (ESCC) in ethnic Chinese subjects in which we genotyped 551,152 single nucleotide polymorphisms...Full Text Available

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Rice, the world's major staple crop, is a poor source of essential micronutrients, including folates (vitamin B9). We report folate biofortification of rice seeds achieved by overexpressing two Arabidopsis thaliana genes of the pterin and para-aminobenzoate branches of the folate biosynthetic pathway from a single locus. We obtained a maximal enhancement as high as 100 times above wild type, with 100 g of polished raw grains containing up to four times the adult daily folate requirement.

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Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available

UK PubMed Central (United Kingdom)

Utilizing the CEPH reference panel and genotypic data for 53 markers, we have constructed a 20-locus multipoint genetic map of human chromosome 4. New RFLPs are reported for four loci. The map integrates...Full Text Available

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Positron emission tomography (PET) and magnetic resonance imaging (MRI) studies were performed on a case of neuro-Behcet's syndrome. In accordance with the clinical signs, FDG PET (using /sup 18/F-labeled 2-F-2'-desoxyglucose) revealed disseminated storage defects in the cerebrum and cerebellum. Focal regions of enhanced signal intensity were demonstrated in the parietal white matter of the cerebrum in T2-weighted images and in the brain stem by MRI. (orig.).

UK PubMed Central (United Kingdom)

Nonthyroidal illness syndrome (NTIS) is a state of low serum 3,5,3′ triiodothyronine (T₃) that occurs in chronically ill patients; the degree of reduction in T₃ is associated...Full Text Available

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In the past few months, there has been public discussion relating to a new perspective on blood safety and specifically upon measures to prevent or discourage donation by individuals with a diagnosis of myalgic encephalopathy-chronic fatigue syndrome. This reflects an intriguing interplay between science, public health and public concern and illustrates some of the difficulties of making decisions in the face of uncertainty and inadequate information.

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Abstract Background: Premature ovarian failure is diagnosed with a picture of amenorrhea, elevated follicle-stimulating hormone (FSH), and age under 40 years. Twenty percent (20%) of patients with premature ovarian failure have a concomitant autoimmune disease. Cases of premature ovarian failure associated with Sj?gren syndrome have been reported in the literature. Patient and method: We report a case of a 42-year-old white woman with Sj?gren syndrome and premature ovarian failure who underwent a reversal of her premature ovarian failure and restoration of normal menses using an elimination diet protocol. The patient was diagnosed with her rheumatological condition in 2005 and started on disease-modifying antirheumatoid drugs, which were taken intermittently due to a concern over medicatio...

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The human smooth muscle myosin heavy chain locus (MYH11) was mapped by fluorescence in situ hybridization to the middle of the p arm of chromosome 16 using a genomic cosmid clone containing coding sequences of the gene as probe. Probe from coding sequence, when applied to Southern blots of a panel of hybrids containing different portions of human chromosome 16, localized the gene to 16p13.13-13.12. Coding sequence PCR primers, when used on the DNA from a CHO-mouse hybrid clone mapping panel informative for mouse chromosomes, showed that the gene was located on mouse chromosome 16. These results correct a recent assignment of MYH11 from 16q12.2 to the region of the 16p-arm inversion breakpoint seen in acute myelomonocytic leukemia (AMML) M4Eo and demonstrate that the conflicting data do not result from the presence of additional MYH genes on the q arm of the chromosome. Also, a new region of conserved synteny between human 16p and mouse 16 is established. 10 refs., ...

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Large-scale field tracer experiments have been conducted on Ulchin and Wolsung nuclear sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear site. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. Both processes of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of biological research for the radiation protection had contained the search of biological microanalytic methods for the assessment of health effect by radiation and toxic agents, ...

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Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement...Full Text Available

UK PubMed Central (United Kingdom)

Of 107 women investigated for frequency of micturition and dysuria, 21 had gonorrhoea, 14 chlamydial urethritis, eight an Escherichia coli urinary tract infection, 18 candidosis, 12 trichomoniasis,...Full Text Available

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A ten week old girl who had previously undergone a palliative procedure for the hypoplastic left heart syndrome had unrelieved aortic coarctation that did not respond to standard balloon dilatation....Full Text Available

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FRAXA is one of a number of fragile sites in human chromosomes that are induced by agents like fluorodeoxyuridine (FdU) that affect intracellular thymidylate levels. FRAXA coincides with a >200...Full Text Available

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BackgroundCharacterizing infectious disease burden in Africa is important for prioritizing and targeting limited resources for curative and preventive services and monitoring the...Full Text Available

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BackgroundThe study of small airway diseases such as post-transplant bronchiolitis obliterans syndrome (BOS) is hampered by the difficulty in assessing peripheral airway function...Full Text Available

UK PubMed Central (United Kingdom)

Excessive weight loss due to protein calorie malnutrition (PCM) is a significant problem in Nigerian children. This syndrome may be difficult to differentiate from the wasting disease caused by human...Full Text Available

UK PubMed Central (United Kingdom)

We have recently reported that progeroid Zmpste24^−/− mice, which exhibit multiple defects that phenocopy Hutchinson-Gilford progeria syndrome, show a profound dysregulation...Full Text Available

UK PubMed Central (United Kingdom)

Treatment of functional bowel disorders of irritable bowel-type (IBS) in children remains a difficult task because of a lack of drugs with low adverse event profile. We here report the results of a...Full Text Available

UK PubMed Central (United Kingdom)

Severe pericardial effusion is a rare complication of bacterial pneumonia and it usually disappears under medical treatment. Herein we report a case of a girl with a congenital immunodeficient syndrome...Full Text Available

UK PubMed Central (United Kingdom)

PURPOSE: To determine the frequency of ophthalmic abnormalities in patients with cutaneous T-cell lymphoma (mycosis fungoides and Sézary syndrome) and T-cell lymphoma involving the skin and...Full Text Available

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PMID:11835026

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Dysregulation of the alternative pathway of complement activation, caused by mutations or polymorphisms in the genes encoding factor H, membrane co-factor protein, factor I or factor B, is associated...Full Text Available

International Nuclear Information System (INIS)

A 30-year-old man with acquired immune deficiency syndrome (AIDS) and Kaposi's sarcoma had a palpable thyroid mass and cervical lymphadenopathy. Nuclear medicine and ultrasound scans revealed multiple thyroid nodules. Results of biopsy showed Kaposi's sarcoma metastatic to the thyroid.

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BackgroundWe have recently reported successful treatment of patients with chronic pain syndromes using human pooled intravenous immunoglobulin (IVIG) in a prospective, open-label...Full Text Available

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Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare entity, sometimes referred to as Herlyn-Werner-Wunderlich syndrome (HWW). It usually presents after menarche with progressive pelvic pain, sometimes with regular menses, and a palpable mass due to hemihaematocolpos. The diagnosis is generally made only if the suspicion of this genitourinary syndrome is raised. To highlight the imaging diagnostic clues in this rare condition. We report on 11 adolescents with this condition. Sonography mostly allowed the correct diagnosis by showing uterovaginal duplication, haematocolpos or haematometrocolpos, and the absence of the ipsilateral kidney. MRI provided more detailed information regarding uterine morphology, the continuity with each vaginal channel (obstructed and nonobstructed), and the bloody nature of the contents. Early and accurate diagnosis of this syndrome is important so that adequate and ...

UK PubMed Central (United Kingdom)

Patients treated with bleomycin are at risk of developing the acute adult respiratory distress syndrome post-operatively. In a prospective study of 12 patients who had received bleomycin preoperatively...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundSeven genes involved in folate metabolism are located on chromosome 21. Previous studies have shown that folate deficiency may contribute to mental retardation in Down's...Full Text Available

UK PubMed Central (United Kingdom)

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available

UK PubMed Central (United Kingdom)

The symptoms of two patients with bilateral cortical auditory lesions evolved from cortical deafness to other auditory syndromes: generalised auditory agnosia, amusia and/or pure word deafness, and...Full Text Available

UK PubMed Central (United Kingdom)

Shilajit has been used traditionally in folk medicine for treatment of a variety of disorders, including syndromes involving excessive complement activation. Extracts of Shilajit contain significant...Full Text Available

UK PubMed Central (United Kingdom)

IntroductionColonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis,...Full Text Available

UK PubMed Central (United Kingdom)

Germ cell tumor development in humans has been proposed to be part of testicular dysgenesis syndrome (TDS), which manifests as undescended testes, sterility, hypospadias, and, in extreme cases,...Full Text Available

Science.gov (United States)

Effectiveness Flu Shot Nasal Spray Vaccine (LAIV) Thimerosal Guillain-Barré Syndrome (GBS) Antiviral Drugs: Key Facts Antiviral Drugs: Q&A Antiviral Drug Resistance Links,...

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Forty children with the fetal alcohol syndrome were identified in the west of Scotland. All were growth retarded and had abnormal facial features, and all those who were tested were found to have neurological...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundObesity is one of the principal causative factors involved in the development of metabolic syndrome. AMP-activated protein kinase (AMPK) is an energy sensor that regulates...Full Text Available

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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

UK PubMed Central (United Kingdom)

The global acquired immunodeficiency syndrome (AIDS) pandemic is thought to have arisen by the transmission of human immunodeficiency virus (HIV-1)-like viruses from chimpanzees in southeastern...Full Text Available

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Thermodynamic states encountered during combustion of Aluminum powder in Shock-Dispersed-Fuel (SDF) explosions were analyzed with the Cheetah code. Results are displayed in the Le Chatelier diagram: the locus of states of specific internal energy versus temperature. Accuracy of the results was confirmed by comparing the fuel and products curves with the heats of detonation and combustion, and species composition as measured in bomb calorimeter experiments. Results were fit with analytic functions u = f(T) suitable for specifying the thermodynamic properties required for gas-dynamic models of combustion in explosions.

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Considering the hardware characteristics of the laser-induced plasma X-ray source and the limitations of the conventional cone-beam reconstruction algorithm, a general cone-beam reconstruction algorithm has been developed at our laboratory, in which the motion locus of the X-ray source is an arbitrary curve corresponding to at least a 2{pi} continuous horizontal angular displacement in the coordinate system of the specimen. The preliminary simulation shows that the general cone-beam reconstruction algorithm consistently results in visually satisfactory images.

International Nuclear Information System (INIS)

It may result in acute radiation syndrome after body is exposed to ionizing radiation. The one of long-term effects of irradiation injury is leukemia. The bone marrow cells (BMC) transplantation including stem cells is the only effective therapy for acute radiation syndrome patients. Recently, with the advancement of stem cell research that the stem cells have multipotential and can convert each other, it may supply the new stem source for the irradiation injury patients. At the same time with the further research of radioprotective reagents, the hematopoietic stem cells proliferation after irradiation injury is promoted

International Nuclear Information System (INIS)

The method of syndrome coding for data compression read out from multiwire proportional chambers that has been previously proposed is generalized in case of its application to registration of the coordinates of events detected. The questions of execution of arithmetic and algebraic operations on the Galois field elements and their hardware implementation are considered. The method of computation is presented of a specialized processor for parallel computing the coordinates of three sparks. The estimate of its speed is equal to 185 ns. Data compression, data selection and coordinate calculations are performed without use of memory elements and timing pulses.

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Lumbar epidural anesthesia is useful in a variety of chronic benign pain syndromes, including lumbar radiculopathy, low back pain syndrome, spinal stenosis, and vertebral compression fractures. Given the increased number of epidural nerve blocks being performed, some have reported unexplained complications of a transient or permanent nature and with varying degrees of severity. However, no case has been reported of a broken epidural needle tip retained in the lumbar facet joint area. This represents the first reported case presentation of foraminal stenosis developing in a patient after a retained epidural needle tip. PMID:21286465

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Purpose: Budd-Chiari syndrome is a fairly uncommon disease in Europe. This often leads to its late diagnosis. The syndrome is characterised by portal hypertension and splanchnic congestion due to obstruction of hepatic venous outflow. This paper describes the treatment of three patients with Budd-Chiari syndrome by interventional therapeutic techniques and discusses alternative treatment modalities. Patients and Methods: The first patient presented with veno-occlusive disease and was treated by the placement of a transjugular intrahepatic portosystemic stentshunt. The second patient showed an occlusion of the major hepatic veins. After percutaneous recanalisation, a stent was placed in the right hepatic vein which remained patent. The third patient had a membranous obstruction of the right hepatic vein which was treated by percutaneous balloon dilatation. Results: In all patients the clinical symptoms resolved completely ...

International Nuclear Information System (INIS)

The puborectalis syndrome is a defecation disorder supported by the nonrelaxation of puborectalis sling with consequent dyschezia. They report on a series of 98 patients submitted to clinical examination, defecography, anorectal manometry, electromyography and intestinal transit time studies. The main symptoms of puborectalis syndrome in their patients were incomplete defecation (89 %) and intermittent evacuation (63 %); 28 % of patients turned to finger defecation. In all patients, defecography showed an abnormal increase in puborectalis impression on the posterior anorectal wall, reduced anorectal angle opening under straining (mean value: 113 deg) and prolonged expulsion time with barium pooling in the ampulla (mean evacuation time: 38 seconds). Such anorectal abnormalities as rectal mucosal prolapse (47 cases) and anterior rectocele (36 cases) were also associated. In 33 of 98 patients (34 % of cases), sling assessment by bidigital ...

International Nuclear Information System (INIS)

The survival time of golden hamsters (Mesocricetus auratus) after whole-body "6"0Co-#gamma#-irradiation in the range of 600 to 200 000 rad was investigated. The two plateaus of the dose-survival curve which correspond to bone marrow and gastrointestinal death are similar to those of other species such as mice, rats and mongolian gerbils. A new plateau occurring 40-57 hours after doses of 30 000-60 000 rad, where there is a little reduction in survival time, has been found. It is in addition to the well recognized central nervous system (CNS) syndrome. This plateau is observed only in golden hamsters, presumably because of their relatively high resistance to CNS syndrome. Experiments involving partial body irradiation of the animals indicate that the target is in the cephalic one-third of abdomen. The new segment may well indicate a new type of acute somatic radiation injury different from the well known bone marrow, gastrointestinal and CNS ...

International Nuclear Information System (INIS)

We describe in detail the space of the two Kaehler parameters of the Calabi-Yau manifold P_4"("1","1","1","6","9")[D. R. Morrison, 1993] by exploiting mirror symmetry. The large complex structure limit of the mirror, which corresponds to the classical large radius limit, is found by studying the monodromy of the periods about the discriminant locus, the boundary of the moduli space corresponding to singular Calabi-Yau manifolds. A symplectic basis of periods is found and the action of the Sp(6, Z) generators of the modular group is determined. From the mirror map we compute the instanton expansion of the Yukawa couplings and the generalized N=2 index, arriving at the numbers of instantons of genus zero and genus one of each bidegree. We find that these numbers can be negative, even in genus zero. We also investigate an SL(2, Z) symmetry that acts on a boundary of the moduli space. ((orig.)).

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Prepulse inhibition (PPI) is a measure of sensorimotor gating, a pre-attentional inhibitory brain mechanism that filters extraneous stimuli. Prepulse inhibition is correlated with measures of cognition and executive functioning, and is considered an endophenotype of schizophrenia and other psychiatric illnesses in which patients show PPI impairments. As a first step toward identifying genes that regulate PPI, we performed a quantitative trait locus (QTL) screen of PPI phenotypes in a panel of mouse chromosome substitution strains (CSSs). We identified five CSSs with altered PPI compared with the host C57BL/6J strain: CSS-4 exhibited decreased PPI, whereas CSS-10, -11, -16 and -Y exhibited higher PPI compared with C57BL/6J. These data indicate that A/J chromosomes 4, 10, 11, 16 and Y harbor...

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The authors have identified a protein present only in erythroid cells that binds to two adjacent sites within an enhancer region of the chicken {beta}-globin locus. Mutation of the sites, so that binding by the factor can no longer be detected in vitro, leads to a loss of enhancing ability, assayed by transient expression in primary erythrocytes. Binding sites for the erythroid-specific factor (Eryf1) are found within regulatory regions for all chicken globin genes. A strong Eryf1 binding site is also present within the enhancer of at least one human globin gene, and proteins from human erythroid cells (but not HeLa cells) bind to both the chicken and the human sites.

British Library Electronic Table of Contents (United Kingdom)

Paget Schroetter syndrome, or effort thrombosis of the axillosubclavian venous system, is distinct from other forms of upper limb deep vein thrombosis. It occurs in younger patients and often is secondary to competitive sport, music, or strenuous occupation. If untreated, there is a higher incidence of disabling venous hypertension than was previously appreciated. Anticoagulation alone or in combination with thrombolysis leads to a high rate of rethrombosis. We have established a multidisciplinary protocol over 15?years, based on careful patient selection and a combination of lysis, decompressive surgery, and postoperative percutaneous venoplasty. During the past 10?years, a total of 232 decompression procedures have been performed. This article reviews the literature and presents the Exet...

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MRI (Magnetic resonance imaging) has been widely used in the diagnosis of primary carpal tunnel syndrome (CTS). However, it has had limited clinical application in diagnosing persistent or recurrent CTS. We aimed to investigate the efficacy of this imaging modality in patients who had previously undergone open carpal tunnel release without relief of symptoms, and assess the correlation of MRI with intra-operative findings upon re-exploration. MRI studies were performed on 17 wrists (16 patients) presenting with recurrent/persistent symptoms and signs of CTS in whom repeat nerve conduction studies were also performed. Surgical re-exploration was undertaken on 16 wrists in which a 100% correlation was noted between MRI and intra-operative findings of an incompletely released or re-grown tran...

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Individuals with Asperger syndrome (AS) have problems in following conversation, especially in the situations where several people are talking. This might result from impairments in audiovisual speech perception, especially from difficulties in focusing attention to speech-relevant visual information and ignoring distracting information. We studied the effect of visual spatial attention on the audiovisual speech perception of adult individuals with AS and matched control participants. Two faces were presented side by side, one uttering /aka/ and the other /ata/, while an auditory stimulus of /apa/ was played. The participants fixated on a central cross and directed their attention to the face that an arrow pointed to, reporting which consonant they heard. We hypothesized that the adults wi...

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Abstract Aim:- To describe the first case of ceftriaxone-related haemolysis in a patient with congenital nephrotic syndrome (CNS). Background:- Severe haemolysis caused by an immune reaction to ceftriaxone has mostly been described in patients with underlying haematological or immune dysfunction. Case report:- The authors present a 20-month-old boy with CNS of the Finnish type with several previous severe infections treated with ceftriaxone, admitted for suspected sepsis. Following ceftriaxone administration he developed shock secondary to an acute haemolytic reaction, with severe anaemia. Hypersensitivity to ceftriaxone was documented through positive agglutination tests. Conclusion:- Onset of haemolysis following ceftriaxone administration, particularly in a patient previously exposed to...

British Library Electronic Table of Contents (United Kingdom)

The winter syndrome in the gilthead sea bream Sparus aurata indicates that the species is exposed to critically low temperatures in Mediterranean aquaculture in winter. The present study of metabolic patterns and molecular stress responses during cold exposure was carried out to investigate this ?disease?, in light of the recent concept of oxygen and capacity limited thermal tolerance. The metabolic profile of fuel oxidation was examined by determining the activities of the enzymes hexokinase (HK), aldolase (Ald), pyruvate kinase (PK), l-lactate dehydrogenase (l-LDH), citrate synthase (CS), malate dehydrogenase (MDH) and 3-hydroxyacyl CoA dehydrogenase (HOAD) in heart, red and white muscle after exposure to temperatures of 10, 14 and 18?C. Especially, the increase in LDH activity combined ...

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KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...

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ObjectiveTo address the characteristics of hearing loss in patients with Turner syndrome (TS), we evaluated hearing levels of patients with TS and analyzed causative factors.Study designThirty-three patients with TS (8 to 40 years of age) were studied through the use of audiological measurements, and causative factors were explored.ResultsTwenty cases (35 of 66 ears tested) showed high-frequency (8 kHz) sensory neural hearing loss (HFQ-SNHL). Fifteen cases (26 ears) and 15 cases (24 ears) of the impaired 20 cases were unresponsive to distortion-product otoacoustic emissions and transient-evoked otoacoustic emissions, respectively. HFQ-SNHL showed little relation to the history of middle ear infection and puberty, although middle ear infections were seen in 11 of the 20 cases. The hearing t...

Science.gov (United States)

XMRV or xenotropic murine leukemia virus-related retrovirus, a recently discovered retrovirus, has been linked to both prostate cancer and chronic fatigue syndrome (CFS). Recently, the teams of Drs. Shyh-Ching Lo and Harvey Alter discovered the presence of sequences closely related to XMRV in the blood of 86.5% of patients with CFS [1]. These findings are important because since the initial discovery of XMRV in CFS, several studies have failed to find XMRV in specimens collected from CFS patients. While the current study also did not find XMRV in CFS, Lo et al. did detect sequences that belong to polytropic mouse endogenous retroviruses (PMV), which share considerable similarity with XMRV. Criteria for future studies that will help bring greater clarity to the issue of retroviral sequences in CFS are proposed below. PMID:21994623

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Objective To demonstrate clinical features of a patient subgroup presenting with polycystic ovary syndrome (PCOS) without polycystic ovary morphology. Design Retrospective study. Setting Hospital-based IVF center. Patient(s) In the present study, 876 PCOS patients were selected from women who visited the Reproductive Medicine Center at Shandong Provincial Hospital, Shandong University, between September 2004 and October 2006. Women with PCOS were divided into two groups based on ultrasound image: group A, PCOS patients with classic polycystic ovary (n = 800); group B, PCOS patients without polycystic ovary morphology (n = 76). The following available data were analyzed in the large cohort of women: body height, weight, waistline, hip circumference, hirsutism scores, family history, serum s...

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Abstract Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disorder. Finding a microbe in the central nervous system would have greater significance than in blood because of the integrity of the blood-brain barrier. We examined cerebrospinal fluid from 43 CFS patients using polymerase chain reaction techniques, but did not find XMRV or multiple other common viruses, suggesting that exploration of other causes or pathogenetic mechanisms is warranted. Ann Neurol 2011;

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Twenty-two landrace-derived inbred lines from the Spanish Barley Core Collection (SBCC) were found to display high levels of resistance to a panel of 27 isolates of the fungus Blumeria graminis that exhibit a wide variety of virulences. Among these lines, SBCC145 showed high overall resistance and a distinctive spectrum of resistance compared with the other lines. Against this background, the main goal of the present work was to investigate the genetic basis underlying such resistance using a doubled haploid population derived from a cross between SBCC145 and the elite spring cultivar Beatrix. The population was genotyped with the 1,536-SNP Illumina GoldenGate Oligonucleotide Pool Assay (Barley OPA-1 or BOPA1 for short), whereas phenotypic analysis was performed using two B. graminis isolates. A major quantitative trait locus (QTL) for resistance to both isolates was identified on the long arm of chromosome 6H (6HL) and accounted for ca. 60% of the phenotypic ...

Science.gov (United States)

Carbon isotope discrimination (?(13) C) is considered a useful indicator for indirect selection of grain yield (GY) in cereals. Therefore, it is important to evaluate the genetic variation in ?(13) C and its relationship with GY. A doubled haploid (DH) population derived from a cross of two common wheat varieties, Hanxuan 10 (H10) and Lumai 14 (L14), was phenotyped for ?(13) C in the flag leaf, GY and yield associated traits in two trials contrasted by water availability, specifically, rain-fed and irrigated. Quantitative trait loci (QTLs) were identified by single locus and two locus QTL analyses. QTLs for ?(13) C were located on chromosomes 1A, 2B, 3B, 5A, 7A and 7B, and QTLs for other traits on all chromosomes except 1A, 4D, 5A, 5B and 6D. The population selected for high ?(13) C had an increased frequency of QTL for high ?(13) C, GY and number of spikes per plant (NSP) when grown under rain-fed conditions and only for high ?(13) C and NSP ...

UK PubMed Central (United Kingdom)

BackgroundThe most recent ESC guidelines for percutaneous coronary intervention (PCI) recommend the use of glycoprotein IIb/IIIa inhibitors (GPI) in high risk patients with non-ST-segment...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundA_δ and C fibers are the major pain-conducting nerve fibers, activate only partly the same brain areas, and are differently involved in pain syndromes....Full Text Available

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When an animal is exposed to a sufficient amount of radiation, there will be changes in many organs of the body, and as a result of either the effects in one particular organ or the interaction of effects in several organs, the animal as a whole will show...

UK PubMed Central (United Kingdom)

Mutations of ephrin B1 in humans result in craniofrontonasal syndrome. Because little is known of the role and mechanism of action of ephrin B1 in bone, we examined the function of osteoblast-produced...Full Text Available

UK PubMed Central (United Kingdom)

Since April 2010, a severe outbreak of duck viral infection, with egg drop, feed uptake decline and ovary-oviduct disease, has spread around the major duck-producing regions in China. A new virus, named...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.MethodsWe...Full Text Available

UK PubMed Central (United Kingdom)

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%....Full Text Available

Energy Technology Data Exchange (ETDEWEB)

ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 ...

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The purpose of the Utility Applications Program is to provide information and assistance to interested utilities on central station energy storage systems. Compressed air and underground pumped hydroelectric energy storage are the primary technical focus. Smaller utilities are the primary targets of this program, as they may not have resources to track and utilize new energy conservation developments. The program, initiated during this year-long period, consists of a series of tasks integrating and supporting energy storage implementation. Program management and technical coordination activities monitor the wide range of research ongoing both under government support and in industry and provide a locus for dissemination of results. Recently completed DOE demonstration studies provide the central data base and the DOE CAES and UPH Technology Program activities provide another major resource. In addition a UPH preliminary feasibility study in coorination with Central ...

Science.gov (United States)

Throughout their history, Americans have believed that citizens' fulfillment of their individual duties in a participatory democracy is at least partly met through the forming of groups around important societal issues. Given the complex nature of political socialization, this study investigated identifiable determinants of social action that might be used to advantage in educating young people for citizenship in a democracy. This study attempted to differentiate among junior high, high school and college students (N=517) who were inclined and not inclined to act on their concerns about nuclear threat with selected demographic, psychological, political, and educational variables. The results of a discriminant functional analysis indicated that in comparison with the non-action group, students in the action group were characterized by reporting less trust in government, more exposure to sources of nuclear war information, more political knowledge, a more liberal political orientation, ...

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Marmesin was isolated from the medicinal plant, Afraegle paniculata. Its cytotoxicity and mutagenicity in Chinese hamster V79 cells when sensitized to near ultraviolet (NUV) and long wavelength ultraviolet light or black light (BL) were assayed. Marmesin was extremely cytotoxic in the dark. This cytotoxicity was photoenhanced in NUV and BL; the photoenhanced lethality being higher in NUV than in BL. The LD/sub 50/ of marmesin under NUV and BL photosensitization were 0.002 ..mu..M and (0.012 ..mu..M), respectively. In the absence of NUV and BL, marmesin's LD/sub 50/ was 0.013 ..mu..M.NUV and BL without marmesin were not significantly cytotoxic at the fluence rates of 0.29 W/m/sup 2/ and 4.2 W/m/sup 2/, respectively, for up to 20 min. In contrast to the observed high cytotoxicity of marmesin, its mutagenicity at the HGPRT locus (Asub(z)Gsup(r)) was weak. The implication of this result in the high incidence of skin cancer in Nigeria in which A. paniculata is ...

International Nuclear Information System (INIS)

The product of the human GRO gene is a cytokine with inflammatory and growth-regulatory properties; GRO is also called MGSA for melanoma growth-stimulatory activity. The authors have identified two additional genes, GRO#beta# and GRO#gamma#, that share 90% and 86% identity at the deduced amino acid level with the original GRO#alpha# isolate. One amino acid substitution of proline in GRO#alpha# by leucine in GRO#beta# and GRO#gamma# leads to a large predicted change in protein conformation. Significant differences also exist in the 3' untranslated region, including different numbers of ATTTA repeats associated with mRNA instability. A 122-base-pair region in the 3' region is conserved among the three GRO genes, and a part of it is also conserved in the Chinese hamster genome, suggesting a role in regulation. DNA hybridization with oligonucleotide probes and partial sequence analysis of the genomic clones confirm that the three forms are derived from related but different genes. Only one ...

International Nuclear Information System (INIS)

Chemical analyses were done on the abnormal hemoglobins of the five (101 x SEC)F_1 offspring of X- irradiated adult SEC mice to determine which hemoglobin genes were expressed in each hemoglobin variant. Three offspring of irradiated SEC males did not express either of the two kinds of #alpha#-chains normally found in all SEC mice. The deficient #alpha#-chain synthesis caused these mice to exhibit an #alpha#-thalassemia similar to human #alpha#-thalassemia. Scanning electron microscopy was used to show that many erythrocytes of mice with #alpha#-thalassemia have bizarre shapes; e.g. many erythrocytes appeared flattened or had thorny projections (acanthocytes). One mutant with a tandem duplication of a segment of chromosome 7 (site of locus determining #beta#-chain structure) produced twice as much SEC as 101 #beta#-chain polypeptides. One mutant that probably arose by non-disjunction of chromosome 7's in its unirradiated 101 mother and loss of chromosome 7 from the ...

CERN Document Server

We construct two families of refinements of the (projectivized) support variety of a finite dimensional module $M$ for a finite group scheme $G$. For an arbitrary finite group scheme, we associate a family of {\\it non maximal rank varieties} $\\Gamma^j(G)_M$, $1\\leq j \\leq p-1$, to a $kG$-module $M$. For $G$ infinitesimal, we construct a finer family of locally closed subvarieties $V^{\\ul a}(G)_M$ of the variety of one parameter subgroups of $G$ for any partition $\\ul a$ of $\\dim M$. For an arbitrary finite group scheme $G$, a $kG$-module $M$ of constant rank, and a cohomology class $\\zeta$ in $\\HHH^1(G,M)$ we introduce the {\\it zero locus} $Z(\\zeta) \\subset \\Pi(G)$. We show that $Z(\\zeta)$ is a closed subvariety, and relate it to the non-maximal rank varieties. We also extend the construction of $Z(\\zeta)$ to an arbitrary extension class $\\zeta \\in \\Ext^n_G(M,N)$ whenever $M$ and $N$ are $kG$-modules of constant Jordan type.

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We investigated the in vitro phenotypic transformation of human embryo (HE) cells that were repeatedly irradiated (7.5 cGy once a week) throughout their life-span. Irradiation was repeated until the cells had accumulated 195 cGy (equivalent to the 26th passage). Samples of cells were assayed for survival by colony formation, as well as for mutation at the hypoxanthine guanine phosphoribosyl transferase (HGPRT) locus and for transformation by focus formation. The life-span (mean number of population doublings) of multiply irradiated cells with a total dose of 97.5 cGy was slightly but significantly prolonged over that of controls. After HE cells had accumulated 195 cGy, the maximum number of divisions increased to 130-160% of the number in non-irradiated control cells. Transformed foci were not observed until cells had accumulated 97.5 cGy, and then increased with the increasing accumulation of radiation. However, no cells showed immortality or expressed a malignant ...

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The malM locus of Streptococcus pneumoniae was cloned into one of the two PstI sites of the multicopy S. pneumoniae plasmid pMV158. To eliminate chromosomal transformants in the simultaneous selection for tetracycline resistance (coded by pMV158) and maltose utilization, the host cells contained a chromosomal deletion of the mal gene cluster. Two clones were isolated; one with a 3.3 kb insert (pLS70) which behaved like wild type with respect to maltose utilization, and another with a 2.9 kb insert (pLS69) which behaved as though it contained a down promoter mutation. Preliminary mapping of these clones by restriction analysis placed the 0.4kb deletion on a HindIII fragment in the interior of the chromosomal insert. The recombinant plasmids were able to transform over 50% of a recipient population to Mal/sup +/. Enzyme measurements of the clones indicated an overproduction of amylomaltase, constituting up to 10% of the total cellular protein, and supported the ...

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Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best fitting model was a ...

Science.gov (United States)

Pain is necessary for survival but chronic pain is disabling and causes significant health and economic problems. This study provides an understanding of the future for spinal cord stimulation. Stimulation by means of chronically implanted electrodes, was carried out in 200 patients with pain of varied benign organic etiology. In 177 of them, pain was confined to the failed back syndrome. Most patients were referred by a Pain Management Service. 226 epidural implants were used: 80 unipolar, 59 Resume, 12 bipolar, and 75 quadripolar. Patients were followed for periods of 6 months to 12 years, with a mean follow-up of 44 months. 84 patients (42%) were able to control their pain by stimulation alone, 22 patients (11%) needed occasional analgesic supplements along with their stimulation program. Pain secondary to failed back syndrome, multiple sclerosis, peripheral vascular disease, sympathetic dystrophy and diabetic neuropathy responded favorably. ...

Science.gov (United States)

We performed histological examination of 69 samples of Acropora sp. manifesting different types of tissue loss (Acropora White Syndrome-AWS) from Hawaii, Johnston Atoll and American Samoa between 2002 and 2006. Gross lesions of tissue loss were observed and classified as diffuse acute, diffuse subacute, and focal to multifocal acute to subacute. Corals with acute tissue loss manifested microscopic evidence of necrosis sometimes associated with ciliates, helminths, fungi, algae, sponges, or cyanobacteria whereas those with subacute tissue loss manifested mainly wound repair. Gross lesions of AWS have multiple different changes at the microscopic level some of which involve various microorganisms and metazoa. Elucidating this disease will require, among other things, monitoring lesions over time to determine the pathogenesis of AWS and the potential role of tissue-associated microorganisms in the genesis of tissue loss. Attempts to experimentally induce AWS should ...

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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 ...

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The effectiveness of Noveko's antimicrobial filter was evaluated after 16 months of exposure to commercial swine production. The experiment involved the use of a scaled model of a commercial swine facility consisting of 2 small chambers connected by a duct containing the filters. A 5 kg naive pig was placed in the reception chamber for a period of 6 hours after aerosolization with porcine reproductive and respiratory syndrome virus (PRRSV). Blood samples from pigs were collected before and after aerosolization to test for the presence of PRRSV RNA. Only blood samples were tested for PRRSV antibodies by IDEXX 2XR ELISA. None of the 9 pigs tested were found to be infected. The study showed that the technology used to integrate the antimicrobial agent into the filter fibers allows the filter combination to withstand extreme weather and endure commercial swine production for at least 16 months, and can maintain its effectiveness to avoid airborne transmission ...

Science.gov (United States)

Stem cell research has important implications for medicine. The source of stem cells influences their therapeutic potential, with stem cells derived from early-stage embryos remaining the most versatile. Somatic cell nuclear transfer (SCNT), a source of embryonic stem cells, allows for understandings about disease development and, more importantly, the ability to yield embryonic stem cell lines that are genetically matched to the somatic cell donor. However, SCNT requires women to donate eggs, which involves injection of ovulation-inducing hormones and egg retrieval through laparoscopy or transvaginal needle aspiration. Risks from this procedure are fiercely debated, most notably risk of ovarian hyperstimulation syndrome (OHSS). This review examines risk of OHSS resulting from oocyte donation. We conclude that risk posed by OHSS in egg donation is not significant enough to warrant undue concern, and much of this can be eliminated when proper precautions are taken. ...

British Library Electronic Table of Contents (United Kingdom)

Abstract Reticulate pattern is one of the most important dermatological signs of a pathological process involving the superficial vascular networks. Vascular malformations, such as cutis marmorata congenita telangiectasia and benign forms of livedo reticularis, and sinister conditions, such as meningococcal meningitis or Sneddon's syndrome, can all present with a reticulate pattern. The clinical presentation and morphology is determined by the nature and extent of the underlying pathology and the involvement of a particular vascular network. This review has been divided into four instalments. In the present paper, we discuss the anatomy and physiology of the complex network of vascular structures that support the function of the skin and subcutis.

International Nuclear Information System (INIS)

This text-book (electronic book - multi-media CD-ROM) constitutes a course-book - author's collection of lectures. It consists of 13 lectures in which the reader acquaints with the basis of radiobiology: Introduction to radiobiology; Physical fundamentals of radiobiology; Radiation of cells; Modification of radiation damage of cells; Reparation of radiation damage of cells; Radiation syndromes and their modification; Radiation injury; Radiation damage of tissues; Effect of radiation on embryo and fetus; Biological effects of incorporated radionuclides; Therapy of acute irradiation sickness; Delayed consequences of irradiation; Radiation oncology and radiotherapy. This course-book may be interesting for students, post-graduate students of chemistry, biology, physics, medicine as well as for teachers, scientific workers and physicians. (author)

Science.gov (United States)

Chronic benign pain is commonly associated with chronic fatigue and depression. Depression and chronic fatigue syndrome are also associated with each other and often include pain. Psychologic factors are prominent in these conditions, and they may share neurobiologic factors as well. Management requires separately addressing each component of patients' distress and usually includes physical rehabilitation, education, administration of nonhabituating medications and often counseling. Depression may be a favorable prognostic sign, as it suggests a treatable condition and provides incentive for recovery. PMID:1876618

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The crystal and molecular structures of the anti-acquired immunodeficiency syndrome agent 3'-azido-3'-deoxythymidine (AZT) have been determined by x-ray diffraction. There are two crystallographically independent AZT molecules in the crystal asymmetric unit; they have similar conformation and differ primarily in the glycosyl torsion angle. Comparisons with a hydrated thymidylate structure indicate that the azido group does not significantly affect the gross conformational preference of the molecule. The comparisons also suggest possible functional roles for the azido group in enzyme binding.

Science.gov (United States)

Citation information: Rosenfield M. Computer vision syndrome: a review of ocular causes and potential treatments. Ophthalmic Physiol Opt 2011, 31, 502-515. doi: 10.1111/j.1475-1313.2011.00834.x ABSTRACT: Computer vision syndrome (CVS) is the combination of eye and vision problems associated with the use of computers. In modern western society the use of computers for both vocational and avocational activities is almost universal. However, CVS may have a significant impact not only on visual comfort but also occupational productivity since between 64% and 90% of computer users experience visual symptoms which may include eyestrain, headaches, ocular discomfort, dry eye, diplopia and blurred vision either at near or when looking into the distance after prolonged computer use. This paper reviews the principal ocular causes for this condition, namely oculomotor anomalies and dry eye. Accommodation and vergence responses to electronic screens appear ...

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Radioimmunochemical assay was used to study the hypophyseal and peripheral hormones activity in 60 patients with chronic alcoholism, stage II. A correlation has been established between the patient's age and prolactin and FSH concentrations, as well as between the duration of the recent hard drinking and the concentrations of prolactin, testosterone, FSH and interstitial cell stimulating hormone. It has been shown that the manifestation of the alcoholic abstinent syndrome depended on the prolactin concentration. The test sensitivity estimated by the prolactin level rise and the testosterone level reduction reached 92.3%. The specificity of the changes detected comprised 25%. A conclusion has been made that the disorders noted in the patients with chronic alcoholic intoxication can be used as an objective test in the alcoholism diagnosis. PMID:3936321

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Radiation doses to workers at the Manhattan Engineer District (MED) and US Atomic Energy Commission (AEC) sites due to external irradiation during 1940--1960 are reviewed. Categorized radiation dose data were available from AEC annual reports for some years. Annual individual radiation dose data for ten MED/AEC sites for all years were available from the US Department of Energy`s (DOE) Comprehensive Epidemiologic Data Resource (CEDR). These data are combined to produce an estimate of external collective dose equivalent to 172,000 person-rems (1720 person-Sv) for 1940--1960. During this period there were 41 overexposures, 19 criticality incidents, and 3 deaths due to acute radiation syndrome among several hundred thousand workers.

British Library Electronic Table of Contents (United Kingdom)

Background The 2003 outbreak of severe acute respiratory syndrome (SARS) infected over 8000 people and killed 774. Transmission of SARS occurred through direct and indirect contact and large droplet nuclei. The World Health Organization recommended the use of household disinfectants, which have not been previously tested against SARS coronavirus (SARS-CoV), to disinfect potentially contaminated environmental surfaces. There is a need for a surrogate test system given the limited availability of the SARS-CoV for testing and biosafety requirements necessary to safely handle it. In this study, the antiviral activity of standard household products was assayed against murine hepatitis virus (MHV), as a potential surrogate for SARS-CoV. Methods A surface test method, which involves drying an amo...

British Library Electronic Table of Contents (United Kingdom)

AbstractBackground: The aim of this study was to review an experience with retroperitoneal endoscopic adrenalectomy (REA). This is the procedure of choice for adrenal tumours at this institution. Methods: Between 1997 and 2008, 112 REAs were performed in a single university centre. Data were retrieved retrospectively from a prospectively collected database, including information on patient demographics, surgical procedure, complications and hospital stay. Results: One hundred and twelve REAs were carried out successfully in 105 patients, including seven bilateral adrenalectomies. Thirty nine patients with unilateral adrenal disease had a phaeochromocytoma, of whom 16 had multiple endocrine neoplasia syndrome type 2, 21 patients had Cushing's disease and 20 had Conn's disease. Median body m...

British Library Electronic Table of Contents (United Kingdom)

For a soft-contact-lens (SCL) wearer, corneal health and comfort are strongly influenced by water transport through the polymeric materials used in lens fabrication. In particular, evaporative water loss at the anterior lens surface is a potential cause of contact-lens dehydration and of post-lens tear-film depletion, which in turn, may lead to discomfort, dryness syndrome, and/or lens adhesion.We present a solution-diffusion model for transport of water through soft-contact-lens materials to mimic evaporative dehydration from a contact lens during blinking and to access possible SCL adhesion to the corneal surface under a variety of environmental conditions (e.g., wind speed and relative humidity). To describe the water-transport process, we use an extended version of the Maxwell-Stefan m...

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A 38 year old male dentist developed an oligodendroglioma of the left medial temporal lobe and parasellar region 12 years after radiotherapy with 6600 rads for acromegaly. The 30 cases of radiation-induced gliomas reported in the English literature are reviewed and analysed. The criteria for defining radiation-induced tumours of the central nervous system are proposed as follows: the tumour has a long quiescent ''latency period'', a location in the previously irradiated field, a verified histological difference from a primary condition, and does not arise from a primary condition associated with a genetic syndrome such as neurofibromatosis or tuberous sclerosis. The reported case fulfilled these criteria but appears to be the only reported radiation-induced oligodendroglioma.

British Library Electronic Table of Contents (United Kingdom)

Bariatric surgical procedures have become important therapeutic options for treatment of morbid obesity in both adults and adolescents co-morbidities of obesity such as glucose intolerance, type 2 diabetes (T2DM), metabolic syndrome, steatohepatitis, hyperlipidemia and cardiovascular disease. These co-morbidities of obesity have significant impacts on the overall quality of life of the individual and our society at large. Roux-en-Y gastric bypass (RYGB) and the relatively newer procedures of gastric banding (GB) and vertical sleeve gastrectomy (VSG) have proven to be efficacious in achieving rapid weight loss and reversing the comorbidities of obesity. Unfortunately, bariatric procedures are not without risks including micronutrient deficiency, failure to maintain lost weight, and mortalit...

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Abstract Aim- According to the revised Bethesda Guidelines, colorectal cancer (CRC) occurring under age 50-years should be screened to exclude Lynch syndrome. However, in current practice in East Anglia, tumour screening is initiated only after genetics referral, reserved for those with a strong pedigree. This study aimed to determine how many patients with young-onset CRC undergo tumour screening in hospitals in East Anglia. Method- A retrospective case notes review over 5-years in four hospitals was undertaken to determine what proportion of those with young-onset CRC underwent referral for tumour screening and to assess local practices in terms of patient counselling and management. Results- One hundred and twenty-two patients were included. There was an average yearly caseload of 6-9 p...

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Background The Norwood procedure consists of three palliative operations, performed in neonates with hypoplastic left heart syndrome. Especially the first stage (Norwood I) is associated with the highest mortality rates in paediatric cardiac surgery (up to 25%). During surgery, the aorta is reconstructed and a systemic-to-pulmonary shunt is applied. Originally the modified Blalock-Taussig shunt was used, but recently the right-ventricle-to-pulmonary-artery shunt is increasingly being employed. We reviewed the results of our operative strategy, where an individualised choice of shunt is made. Furthermore, attempts to reduce interstage mortality (between Norwood I and II) were assessed. Methods All neonates who underwent Norwood stage I palliation from August 2004 until November 2010 were in...

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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...

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Introduction: The orofacial clefts include 30 variant according to Tessier classification: the number 30 contain mandibular arc damage isolated or associated with damage of surrounding soft tissue. Case report: Our patient was a newborn with median mandibular cleft associated with ankyloglossia, bifid tongue and a top cervical fistula. We have not found polymalformative syndrome. The early surgical management included one time and after-effect were simple within 11months. Discussion: We point up difficulties for antenatal diagnosis and controversy about appropriate time for management of bone defect. The last physiopathologic hypotheses were explicated.

International Nuclear Information System (INIS)

The authors have evaluated bone mineral content in the vertebral spongiosa by means of Computed Tomography. The method proposed by Genant and Cann [17, 18] has been applied to examine 164 healthy volunteers and 108 patients. Both healthy males and females showed a progressive bone mineral loss increasing with age; the bone mineral loss was most severe in females during the 4th and 5th decade of life. Pathology included patients with osteoporotic fractures (vertebral and femural neck), patients with partial gastrectomy, renal failure, primary hyperparathyroidism, Cushing syndrome, corticosteroid therapy. Bone mineral values were significantly lower in most pathologic groups. Computed Tomography proves thus to be a valuable method to assess bone mineral content and to identify patients at risk for fractures.

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We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high perinatal mortality, abnormal cranial dimensions, defective dental ameloblasts, and nasal septal deviation, consistent with some of the features of human Costello syndrome. These mice developed papillomas and angiosarcomas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling. Endogenous expression of Hras(G12V) was also associated with a higher mutation rate in vivo. Tumor initiation by Hras(G12V) likely requires augmentation of signal output, which in papillomas and angiosarcomas is achieved via increased Hras-gene copy number, which may be favored by a higher mutation frequency in cells expressing the oncoprotein. PMID:19416908

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Summary Objective To evaluate the cost-effectiveness of an educational outreach intervention to improve primary respiratory care by South African nurses. Methods Cost-effectiveness analysis alongside a pragmatic cluster randomised controlled trial, with individual patient data. The intervention, the Practical Approach to Lung Health in South Africa (PALSA), comprised educational outreach based on syndromic clinical practice guidelines for tuberculosis, asthma, chronic obstructive pulmonary disease, pneumonia and other respiratory diseases. The study included 1999 patients aged 15 or over with cough or difficult breathing, attending 40 primary care clinics staffed by nurses in the Free State province. They were interviewed at first presentation, and 1856 (93%) were interviewed 3 months late...

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There has been growing international consensus on issues related to child labour - evident in various declarations, platforms, conventions, programmes of action etc. Child labour is the economic exploitation of children, or performance of any work that is likely to be hazardous or to interfere with the child's health or physical, mental, spiritual, moral or social development. Poverty is the principal cause of child labour. Mostly the children work to support their families and also for their own survival. Paradoxically, however, child labour further aggravates the poverty syndrome as it usually deprives the children of education and opportunity to acquire skills for developing earning potentials. Other causes of child labour include family indebtedness, the lack or poor quality of schooli...

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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,...

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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)

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Using the phasmid vector pSL5, the genomic DNA fragment of T. aquaticus YT1 which contained the thermostable DNA polymerase (Taq-polymerase) gene was cloned. The BglII fragment of this genome locus was subcloned in the BamHI site of the pUC19 plasmid. To optimize the Taq-polymerase gene expression in E. coli cells, the gene was cloned in the correct reading frame regarding the initiation ATG codon of the pPR-TGATG-1 expression vector. The gene expression in this vector was controlled by the phage lambda PR promoter and the temperature-sensitive phage lambda repressor. We used PCR to amplify the short 5'-end fragment of the Taq-polymerase gene coding for the part into which an artificial SacI site was introduced. This site has been used for cloning the PCR product into the pPR-TGATG-1 vector, and the missing gene part was cloned into the KpnI site of the PCR product from the natural cloned gene. The cells of the E. coli PVG-A1 strain, which was obtained in the end, ...

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A semiquantitative assay was developed and used to measure the effects of immune responses against 16 independent non-H-2 antigenic loci on erythropoietic stem cells. The assay compares repopulation in genetically anemic WBB6F1-W/Wv recipients that have normal immune responses, and in lethally irradiated WBB6F1 +/+ mice whose immune responses are suppressed by the irradiation. The differences in repopulating ability between these two types of recipients measure how immune responses affect erythropoietic stem cells. Stem cell repopulating abilities for the cells with antigens specified by the Thy-1, H-1, H-24, Ly-1, H-37, and H-17 loci were affected slightly, if at all. Repopulating abilities were moderately reduced by responses against antigens specified by H-15, 16, Ea-2, and Ly-2, 3 loci, and against the differences between the B6 and B10 genotypes, although marrow of these types cured W/Wv recipients. A surprising result occurred for the antigen specified by the H-8 ...

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Airbag pressure vessels for the north-American market mainly are made by forging and by the use of steel alloys. In Europe aluminum alloys are common and the manufacturing process is extrusion of circular blanks - made from cold rolled plates - in a form applying a 100 t press at room temperature. Then by heat treatment the strength/hardness of the material is properly adjusted and after that the pressure vessel parts have to be continuously inspected with an inspection and handling cycle time of 3 s. Inspection of the axis-symmetric parts is asked for surface breaking extrusion defects as well as for surface parallel delaminations in the bulk volume. Furthermore, the material strength is a quality characteristic that has to be nondestructively registered and documented. The inspection is performed by eddy current probes and an EMAT, of which the eddy current impedance measurements are used for surface breaking extrusion defect detection and sizing (single frequency technique with ...

International Nuclear Information System (INIS)

By polymerase chain reaction with arbitrary primer (AP-PCR), the possibility of transmission of genome instability to somatic cells of the offspring (F_1 generation) from male parents of mice exposed to chronic low-dose #gamma#-radiation was studied. Male mice 15 days after exposure to 10-50 cGy were mated with unirradiated females. Biopsies were taken from tale tips of two month-old mice progeny for DNA separation. Primer in the AP-PCR was 20-mer oligonucleotide flanking the micro-satellite locus Atplb2 on chromosome 11 of the mouse. Comparative analysis of individual fingerprints of AP-PCR products on DNA-templates from the offspring of irradiated and unirradiated male mice revealed an increased variability of micro-satellite-associated sequences in the genome of the offspring of males exposed to 25 and 50 cGy. DNA-fingerprints of the offspring of male mice exposed to chronic irradiation doses 10 and 25 cGy. 15 days before fertilization (at the post-meiotic stage ...

International Nuclear Information System (INIS)

The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal mutation induced by the radiation treatment may be detected by the combination ...

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Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR analysis revealed ...

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The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource for long-range mapping of this region. A large fraction of the hybrids ([approximately]90%) retained detectable human chromosome 17 sequences. The complete panel of 76 hybrids was scored for the presence or absence of 22 markers from this chromosomal region, including 14 cloned genes, seven microsatellite repeats, and one anonymous DNA segment. Statistical analysis of the marker retention data employing multipoint methods provided both comprehensive and framework maps of this chromosomal region, including distance estimates between adjacent markers. The comprehensive RH map includes 17 loci and spans 179 cRays[sub (8000)]. Likelihood ratios of at least 1000:1 support the 10-locus framework order: cen-D17S250-ERBB2-(THRA1, ...

International Nuclear Information System (INIS)

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 exon 1 of the CSA gene. ...

Science.gov (United States)

White spot syndrome virus (WSSV) is the causative agent of the white spot disease of shrimp. Penaeus monodon were captured from Muttukadu Estuary in Chennai, India, transported to the laboratory and maintained in an aerated system with continuous water circulation-biofiltration. WSSV-free P. monodon were challenged by feeding them only once with WSSV-infected tissues of P. monodon. Cumulative mortality (100%) of the infected individuals was determined. Tissues from infected and uninfected shrimp such as muscles, hepatopancreas, heart, gills and eye tissues (100mg of each) and haemolymph (50 microl) were subjected to SDS-PAGE. In infected muscle tissue, six newly expressed proteins were detected. In infected haemolymph, four new proteins and three intensely expressed high molecular weight proteins were observed. Three intensely expressed high molecular weight proteins were detected in infected heart tissue and two new proteins in infected hepatopancreatic tissues. ...

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Retroviruses are well known pathogens of mammals, birds and fish. Their potential to induce cancer in chickens was already described almost 100 years ago and murine retroviruses have been a subject of study for 50 years. The first human retroviruses, HTLV and HIV, were discovered more than 30 years ago, surprising researchers and physicians by the profound differences in the diseases they cause. HTLV-1 is able to induce, after decades of infection, lymphomas/leukemia or neuroimmune disorders whereas untreated HIV infection leads almost inevitably to AIDS. The recently described XMRV (xenotropic murine leukemia virus-related virus) appeared to possess many of the features known for HTLV and was regarded by some to be the third human retrovirus. However, recent publications by Knox et al. [1] and Paprotka et al. [2] have shed new light on this gammaretrovirus. Knox and colleagues clearly demonstrate that XMRV is absent in patients belonging to a chronic fatigue ...

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This seminar dealt with the subject of indoor air pollution and welcomed participants from environmental consultancy agencies and authorities and institutions related with environmental protection. Leading scientists from research and authorities presented the current state of knowledge abut the risks of indoorair pollution. The papers contained in these proceedings addressed: room climate and sick-building syndrome; allergens in indoor spaces; pollutants emitted by exemplary building materials; pollutant levels of organic compounds in indoor spaces; air quality in motor vehicle interiors; indoor air pollution - risk assessment and need for actions. (Uhe) [Deutsch] Das Seminar zum Thema Innenraumluft wurde fuer TeilnehmerInnen von Umweltberatungsstellen und anderen mit Umwelt betrauten Behoerden und Institutionen veranstaltet. Fuehrende Wissenschaftlerinnen aus Forschung und Behoerden stellten den aktuellen Stand des Wissens ueber Risiken der Innenraumbelastung aus ...

Science.gov (United States)

BACKGROUND: Denys-Drash Syndrome (DDS) is an uncommon disorder that appears sporadically and in rare cases may be inherited as an autosomal dominant trait It manifests either at birth or within the first year of life and typically consists of the triad of congenital nephropathy, Wilms tumour and intersex disorder. CASE REPORT: A 10 year-old Caucasian girl was referred to the Dental Department, at Glasgow Royal Hospital for Sick Children by her Paediatric Nephrologist Consultant. The patient was being teased by her peers over her markedly discoloured teeth. The dental history revealed that the patient was a regular dental attendee from an early age. She was dentally anxious having only experienced dental treatment under general anaesthesia (GA) when she was 4 years old. Apparently her primary dentition also showed a generalised discolouration. TREATMENT: This consisted of multiple visits for diet analysis and tooth brushing instruction with the use of disclosing ...

DEFF Research Database (Denmark)

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. ...

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The paper presents differential-diagnostic signs of phobic disorders of different etiology. Acute episodes of depersonalization preceding phobias and fears arising during the first age crisis are considered as some diagnostic signs of endogenous phobias. The significant criteria for diagnosis of psychogenic phobias are anxious suspiciousness, affective instability, susceptibility, spontaneity of reactivity and the presence of personally important psychic trauma. An autonomic paroxysm caused by alcoholic situation in exogenic organic pathology (alcoholism) was transformed quite fast into some senestopathias, which themselves maintained the of fear. The relationships of phobias and depressions in endogenous disorders was different: in slow-progredient variations of the disease depression resulted in a decrease of the manifestations of the phobias, and vice versa; in shift-like variations depression is an independent syndrome in the depressive-phobic complex. ...

International Nuclear Information System (INIS)

Brain glucose metabolism was evaluated in four patients with acquired immunodeficiency syndrome (AIDS) dementia complex using ["1"8F]fluorodeoxyglucose (FDG) and positron emission tomography (PET) scans at the beginning of therapy with 3'-azido-2',3'-dideoxythymidine (AZT, zidovudine), and later in the course of therapy. In two patients, baseline, large focal cortical abnormalities of glucose utilization were reversed during the course of therapy. In the other two patients, the initial PET study did not reveal pronounced focal alterations, while the post-treatment scans showed markedly increased cortical glucose metabolism. The improved cortical glucose utilization was accompanied in all patients by immunologic and neurologic improvement. PET-FDG studies can detect cortical metabolic abnormalities associated with AIDS dementia complex, and may be used to monitor the metabolic improvement in response to AZT treatment.

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Lytic activity and recovery of natural killer (NK) cells was monitored in pediatric patients with leukemias (ALL, AML, CML, JMML) and myelodysplastic syndromes after transplantation of T cell depleted stem cells from matched unrelated (n = 18) and mismatched related (haploidentical, n = 29) donors. CD34 + selection with magnetic microbeads resulted in 8 x 10^3/kg residual T cells. No post-transplant immune suppression was given. NK cells recovered rapidly after transplantation (300 CD56+/@mL at day 30, median), whereas T cell recovery was delayed (median: 12 CD3+/@mL at day 90). NK activity was measured as specific lysis of K 562 targets several times (mean: 3 assays per patient). Four temporal patterns of lytic activity could be differentiated: consistently low, consistently high, decreas...

International Nuclear Information System (INIS)

We used computerized tomography (CT) in the study of eight patients with macronodular splenic tuberculosis prior to the microbiological diagnosis. These patients underwent additional CT controls during and after tuberculostatic therapy. All the patients studed presented the acquired immunodeficiency syndrome (AIDS). Splenomegaly and numerosous round, hypodense lesions that showed no contrast uptake were found in all the subjects. Only three patients presented evidence of tuberculosis in plain radiography and/or chest X-ray. Two patients presented abdominal lymph nodes. None of them showed evidence of hepatic lesions or ascites. follow-up CT scans revealed a progressive reduction of the lesions, which eventually disappeared completely, and splenomegaly was considerably reduced. Anthough it is uncommon, we should suspect splenic involvement in tuberculosis if the clinical and radiological contexts are appropriate. CT provides excellent monitoring of the efficacy of ...

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Xenotropic murine leukemia virus-related virus (XMRV) was discovered in human prostate tumors and later in some chronic fatigue syndrome (CFS) patients. However, subsequent studies have identified various sources of potential contamination with XMRV and other murine leukemia virus (MLV)-related sequences in test samples. Biological and nucleotide sequence analysis indicates that XMRV is distinct from known xenotropic MLVs and has a broad host range and cell tropism including human cells. Therefore, it is prudent to minimize the risk of human exposure to infection by evaluating XMRV contamination in cell lines handled in laboratory research and particularly those used in the manufacture of biological products. Nested DNA PCR assays were optimized for investigating XMRV gag and env sequences in various cell lines, which included MRC-5, Vero, HEK-293, MDCK, HeLa, and A549, that may be used in the development of some vaccines and other cell lines broadly used in ...

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Patients with acquired immunodeficiency syndrome (AIDS) are subject to a spectrum of central nervous system (CNS) disorders. Recent evidence implicates the human T-cell lymphotropic virus type III (HTLV-III) in the pathogenesis of some of these illnesses, although the cells infected by the virus have yet to be identified. Using in situ hybridization, the authors examined brain tissue from two patients with AIDS encephalopathy for the presence of HTLV-III RNA. In both cases, viral RNA was detected and concentrated in, though not limited to, the white matter. The CNS cells most frequently infected included macrophages, pleomorphic microglia, and multinucleated giant cells. Less frequently, cells morphologically consistent with astrocytes, oligodendroglia, and rarely neurons were also infected. The findings strengthen the association of HTLV-III with the pathogenesis of AIDS encephalopathy. In situ hybridization can be applied to routinely prepared biopsy tissue in ...

Science.gov (United States)

This Spanish-language master's thesis presents a study which measured special education teachers' knowledge of AIDS (Acquired Immune Deficiency Syndrome) virus transmission and their attitudes toward children with AIDS in schools. Attitudes were then related to social variables such as sex, teacher's age, and knowing someone with AIDS. A survey of 101 Oswego County, New York, special education teachers found that 52 percent had a moderate knowledge about AIDS transmission, and 48 percent of respondents had a positive perception of children with AIDS. Findings also indicated that teachers had received effective training and information about AIDS; teachers seemed to feel insecure about applying that knowledge to particular situations of possible risk; knowing people with AIDS provoked negative or inadequate perceptions of that population; and age, sex, and teaching experience were not related to teachers' perceptions or AIDS knowledge. Several recommendations are ...

British Library Electronic Table of Contents (United Kingdom)

BACKGROUND: Since the identification of xenotropic murine leukemia virus-related virus (XMRV) in prostate cancer patients in 2006 and in chronic fatigue syndrome patients in 2009, conflicting findings have been reported regarding its etiologic role in human diseases and prevalence in general populations. In this study, we screened both plasma and peripheral blood mononuclear cells (PBMNCs) collected in Africa from blood donors and human immunodeficiency virus Type 1 (HIV-1)-infected individuals to gain evidence of XMRV infection in this geographic region. STUDY DESIGN AND METHODS: A total of 199 plasma samples, 19 PBMNC samples, and 50 culture supernatants from PBMNCs of blood donors from Cameroon found to be infected with HIV-1 and HIV-1 patients from Uganda were screened for XMRV infecti...

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Development of selective serotonin transporter (SERT) tracers for single-photon emission tomography (SPET) is important for studying the underlying pharmacology and interaction of specific serotonin reuptake site inhibitors, commonly used antidepressants, at the SERT sites in the human brain. In search of a new tracer for imaging SERT, IDAM (5-iodo-2-[[2-2-[(dimethylamino)methyl]phenyl]thio]benzyl alcohol) was developed. In vitro characterization of IDAM was carried out with binding studies in cell lines and rat tissue homogenates. In vivo binding of [[sup 125]I]IDAM was evaluated in rats by comparing the uptakes in different brain regions through tissue dissections and ex vivo autoradiography. In vitro binding study showed that IDAM displayed an excellent affinity to SERT sites (K[sub i]=0.097 nM, using membrane preparations of LLC-PK[sub 1] cells expressing the specific transporter) and showed more than 1000-fold of selectivity for SERT over norepinehrine and dopamine (expressed in ...

International Nuclear Information System (INIS)

Two candidate small interfering RNAs (siRNAs) corresponding to severe acute respiratory syndrome-associated coronavirus (SARS-CoV) spike gene were designed and in vitro transcribed to explore the possibility of silencing SARS-CoV S gene. The plasmid pEGFP-optS, which contains the codon-optimized SARS-CoV S gene and expresses spike-EGFP fusion protein (S-EGFP) as silencing target and expressing reporter, was transfected with siRNAs into HEK 293T cells. At various time points of posttransfection, the levels of S-EGFP expression and amounts of spike mRNA transcript were detected by fluorescence microscopy, flow cytometry, Western blot, and real-time quantitative PCR, respectively. The results showed that the cells transfected with pEGFP-optS expressed S-EGFP fusion protein at a higher level compared with those transfected with pEGFP-S, which contains wildtype SARS-CoV spike gene sequence. The green fluorescence, mean fluorescence intensity, and SARS-CoV S RNA ...

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A sensitive radio-assay for ferritin was developed and used to examine serum ferritin levels in 105 patients with recurrent oral ulceration (ROU), 41 patients with Behcet's syndrome (BS), 42 with other ulcerative oral lesions, 35 patients with non-ulcerative oral lesions and in 78 controls. Ferritin levels increased with age and were significantly higher in males than females. The mean ferritin concentrations in male patients with ROU, BS or with other oral ulcers were significantly reduced in comparison with controls, and in female patients were significantly reduced in those with major aphthous ulcers. The prevalence of low serum ferritin levels was about 8% in patients with ROU, 15% in BS and 9.5% in patients with other ulcerative oral lesions, compared with less than 3% in patients with non-ulcerative oral disorders and in controls. Most of the iron-deficient patients were female. Serum ferritin levels did not directly correlate with serum iron levels ...

Science.gov (United States)

The cause of the Gulf War Syndrome may be related to soldiers being exposed to insecticides (e.g., permethrin (P)), insect repellents (e.g., N,N-diethyl-m-toluamide (DEET)), an organophosphate nerve agent simulant (e.g., diisopropyl fluorpohosphate (DFP)), and/or prophylactic treatment (e.g., pyridostigmine bromide (PB)) against potential nerve gas attacks. The purpose of this study was to assess the dermal disposition of [14C]permethrin in ethanol or ethanol:water (3:2) in the isolated perfused porcine skin flap (IPPSF) model with simultaneous dermal exposure to DEET or DFP. These IPPSFs were also simultaneously perfused arterially with or without PB, DFP, or DFP + PB. The results indicated that DFP + PB significantly increased [14C]permethrin absorption compared to controls (1.06% dose vs 0.14% dose). PB significantly increased [14C]permethrin disposition in the stratum corneum (SC) in aqueous mixtures only (9.40 vs 3.35% dose), while topical DEET or topical DFP ...

International Nuclear Information System (INIS)

Full text: A 51-year-old woman with end stage renal failure secondary to Haemolytic Uraemic syndrome underwent a cadaveric renal transplant. A routine post transplant DTPA scan was performed which demonstrated satisfactory renal transplant perfusion and function. Incidental note was made of tracer uptake in the pelvis in the mid-line, which was suspected to be a uterine fibroid. This was confirmed on ultrasonography and at surgery. One week post transplantation the patient became acutely unwell and at laparotomy a perforated diverticular abscess was drained. Intraoperatively the transplant kidney was examined and the surgeon thought there was a area of infarction. This was confirmed on biopsy. As the patient's creatinine was rising a repeat DTPA study was performed. Perfusion and function of the transplant kidney was virtually absent while Doppler studies showed no flow. The patient however continued to produce urine and the creatinine was stable. Subsequently a ...

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The treatment of bony, osteochondral, and ligamentous injuries of the tibio-talar requires precise preoperative planning by radiological investigation. This is essential to a correct understanding of the underlying pathology and will allow a proper classification of the injury, which is the basis of treatment. Conventional radiography using anteroposterior and lateral X-rays with comparative views of the noninjured side and, if necessary, rotated spot views and tomography are of high value especially in osteochondral fractures of the talus. Intraoperative control images in both planes after osteosynthesis are mandatory. For evaluation of the postoperative course and severity of arthrosis formation, the classification system of Bargon has proved its worth. In addition, tomography of the tibio-talar joint in two planes is useful especially in tibial pilon fractures, some malleolar fractures, and peripheral talar fractures. In talar fracture dislocations with concomitant compartment ...

International Nuclear Information System (INIS)

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 ...

International Nuclear Information System (INIS)

The spike (S) protein of severe acute respiratory syndrome coronavirus (SARS-CoV) has two major functions: interacting with the receptor to mediate virus entry and inducing protective immunity. Coincidently, the receptor-binding domain (RBD, residues 318-510) of SAR-CoV S protein is a major antigenic site to induce neutralizing antibodies. Here, we used RBD-Fc, a fusion protein containing the RBD and human IgG1 Fc, as a model in the studies and found that a single amino acid substitution in the RBD (R441A) could abolish the immunogenicity of RBD to induce neutralizing antibodies in immunized mice and rabbits. With a panel of anti-RBD mAbs as probes, we observed that R441A substitution was able to disrupt the majority of neutralizing epitopes in the RBD, suggesting that this residue is critical for the antigenic structure responsible for inducing protective immune responses. We also demonstrated that the RBD-Fc bearing R441A mutation could not bind to soluble and ...

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Herbivores and pathogens impact the species composition, ecosystem function, and socioeconomic value of forests. Herbivores and pathogens are an integral part of forests, but sometimes produce undesirable effects and a degradation of forest resources. In the United States, a few species of forest pests routinely have significant impacts on up to 20 million ha of forest with economic costs that probably exceed $1 billion/year. Climatic change could alter patterns of disturbance from herbivores and pathogens through: (1) direct effects on the development and survival of herbivores and pathogens; (2) physiological changes in tree defenses; and (3) indirect effects from changes in the abundance of natural enemies (e.g. parasitoids of insect herbivores), mutualists (e.g. insect vectors of tree pathogens), and competitors. Because of their short life cycles, mobility, reproductive potential, and physiological sensitivity to temperature, even modest climate change will have rapid impacts on ...