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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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Abstract Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT-jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene CDC73 account for 14 and 50% of all FIHP and HPT-JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients. Although more than 60 independent germline mutations have been described, to date no rearrangement affecting the CDC73 locus has been identified. By means of multiplex-PCR we found a large germline deletion affecting the whole gene in a two-generation HPT-JT family. Subsequently array-CGH and specific PCR analysis determined that the muta...

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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 ...

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Neuroleptic malignant syndrome is a life-threatening reaction of neuroleptic medication. The estimated incidence rate of neuroleptic malignant syndrome is between 1% and 1.5% of patients treated with...Full Text Available

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PMID:21990156

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The reactive airways dysfunction syndrome (RADS), the reactive upper airways dysfunction syndrome (RUDS), the sick building syndrome (SBS), and the multiple chemical sensitivity syndrome (MCS) are overlapping...Full Text Available

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Jake, who has been diagnosed with Asperger syndrome, explains that he has developed a number of ritualistic habits.

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Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available

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Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted...Full Text Available

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DNA double-strand breaks (DSBs) are generally accepted to be the most biologically significant lesion by which ionizing radiation causes cancer and hereditary disease. However, no information on the...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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Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) is a genetic disorder with autosomal dominance, variable penetrance, and an estimated prevalence of 1/10,000 inhabitants in France. Diagnosis is based on clinical criteria including epistaxis, telangiectasia, visceral manifestations, and familial occurrence. Pulmonary arteriovenous malformations, present in 15-33% of patients, are its primary visceral complications. The disease may be revealed by infectious and ischemic neurological manifestations due to paradoxical embolism. The high frequency of neurologic complications even in asymptomatic patients justifies systematic screening for pulmonary arteriovenous malformations. Treatment of these malformations is based on percutaneous transcatheter coil embolization of the feeding artery. Pulmonary arterial hypertension is rare in this disease. It may be due to systemic arteriovenous shunting in the liver, which increases cardiac output, or be similar to ...

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Defects in mismatch repair genes cause the genetic instability characteristic of hereditary nonpolyposis colorectal cancer and a subset of sporadic colon tumors. The newest member of the mismatch repair gene family, GTBP, has recently been identified as a partial cDNA. Here, we describe the isolation of its 5{prime} terminus, allowing definition of the entire coding region. Several polymorphisms within the 5{prime} end were identified and are presented. 13 refs., 1 fig.

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Werner syndrome (WS) is characterized by premature onset of age-associated disorders and predisposition to cancer. The WS protein, WRN, encodes 3′ → 5′ DNA helicase and 3′...Full Text Available

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BackgroundThe pathogenesis of visceral hypersensitivity, a characteristic pathophysiological feature of irritable bowel syndrome (IBS), remains elusive. Recent studies suggest a...Full Text Available

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Syndrome X is a combination or co-occurrence of several known cardiovascular risk factors (including central obesity, dyslipidemias, fatty liver disease, hyperinsulinemia, insulin resistance,...Full Text Available

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Patients with Alport syndrome progressively lose renal function as a result of defective type IV collagen in their glomerular basement membrane. In mice lacking the α3 chain of type IV collagen...Full Text Available

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BackgroundIrritable bowel syndrome (IBS) and functional dyspepsia (FD) show considerable overlap and are both associated with psychiatric comorbidity. The present study aimed to...Full Text Available

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SummaryBackgroundQuality of life among women with irritable bowel syndrome may be affected by pelvic floor disorders.AimFull Text Available

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PurposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).MethodsFull...Full Text Available

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AbstractA newly recognized syndrome, characterized by sudden death of farmed deer that are in good to excellent nutritional condition, with lesions of small intestinal mucosal hemorrhage...Full Text Available

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We sought to determine the prevalence of metabolic syndrome (MS) in patients with acute myocardial infarction and its effect on clinical outcomes. Employing data from the Korea Acute Myocardial Infarction...Full Text Available

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Werner Syndrome (WS) is an inherited disease characterized by premature onset of aging, increased cancer incidence, and genomic instability. The WS gene encodes a 1,432-amino acid polypeptide (WRN)...Full Text Available

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Thirteen fetuses (five twin, one triplet) were compromised by fetofetal transfusion syndrome in six pregnancies, five in the mid trimester, and one in the third trimester. This diagnosis, which was...Full Text Available

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At least implicitly, most clinical decisions represent an integration of disease and treatment-based risk assessments. Often, as is the case with acute coronary syndrome (ACS), these decisions need...Full Text Available

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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

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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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Factors influencing the rooting-potential of stem cuttings of conifers were studied for the purpose of improving methods of rapid vegetative propagation. Within the bounds of hereditary limits, root regeneration depends, to a considerable extent, on the qualities of rooting-media, date of cutting excision, age and physiological conditions of the stock plant, age of the cutting-wood, its position on the plant, and chemical treatment. Hardwood cuttings, which have a relatively high content of endogenous auxin and carbohydrates, and morphological root initials, gave the best results. This method made it possible to increase the growth rate of cuttings 2.5-5 times that of cuttings taken from shoots of current growth. (Refs. 21).

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A 60-year-old male was bitten by a venomous snake (Vipera ammodytes) and gradually developed signs of an allergic reaction including generalized itching, generalized rash, and chest discomfort. This was followed by severe retrosternal pain with electrocardiographic evidence of an inferior myocardial ischemia progressing to acute myocardial infarction. Cardiac enzymes and troponin, serum tryptase, and histamine were elevated. Coronary arteriography showed normal coronary arteries. This is a characteristic type I variant of Kounis syndrome, which is the concurrence of acute coronary syndromes with conditions associated with mast cell activation including allergic or hypersensitivity reactions as well as anaphylactic or anaphylactoid reactions. This is the first report to show that viper bite...

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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.)

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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

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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...

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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

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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

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BackgroundAdnexal masses are not uncommon in patients with breast cancer. Breast cancer and ovarian malignancies are known to be associated. In patients with breast cancer and co-existing...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.).

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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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The penetrance of Lebers hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...

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Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...

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The Effective Dose Equivalent Concept defined by the International Commission on Radiological Protection in 1977 considers the risk from irradiation including both hereditary and somatic effects. This paper will deal with the definition of a concept for somatic effects only, the somatically significant dose equivalent. This is defined as the dose equivalent which if received by every member of the population, would be expected to produce the same total somatic injury to the population as does the actual dose equivalent received by various individuals. The somatically effective dose equivalent for a particular radiopharmaceutical is the weighted sum of the average dose equivalent to various organs. The dose equivalent to various organs can be derived from an extended MIRD formalism also considering the rest of body excluding the source volumes and the re iden e times in total body and the target organs. Examples are given for the calculation of somatically effective ...

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The information given in the present report about the Chernobyl accident and its radiological consequences indicates a serious crisis of the international radiation community. The following signs of this crises can be discerned: The international radiation community did not recognize the real reasons of the accident for a long time. It could not make a correct assessment of the damage to the thyroid of the affected populations of Belarus, Russia and the Ukraine. Up to present time it rejects the reliable data on hereditary malformations. It is not able to accept reliable data on the increase in the incidence in all categories of people affected by the Chernobyl accident. The international radiation community supported the Soviet authorities in their attempts to play down the radiological consequences of the Chernobyl accident for a long time. (author)

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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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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

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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

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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

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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

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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

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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

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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

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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 ...

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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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Eliminating anterior tooth contact is paramount when treating combination syndrome. It is possible to do so through the use of linear occlusion with a non-interceptive arrangement and the bilateral fulcrum of protrusive stability. The presence of mandibular anterior teeth often complicates this procedure. When establishing the horizontal plane of occlusion, clinical circumstances often necessitate modifications; nevertheless, certain principles must be incorporated into the design of the prostheses. Clinical circumstances may dictate altering the approach but these principles must be maintained to eliminate anterior hyperfunction. PMID:15055634

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Thirty-two patients with AIDS related complex (ARC) or acquired immunodeficiency syndrome (AIDS) underwent /sup 67/Ga scans as part of their evaluation. Three patterns of /sup 67/Ga biodistribution were found: lymph node uptake alone; diffuse pulmonary uptake; normal scan. Gallium-67 scans were useful in identifying clinically occult Pneumocystis carinii pneumonia in seven of 15 patients with ARC who were asymptomatic and had normal chest radiographs. Gallium scans are a useful ancillary procedure in the evaluation of patients with ARC or AIDS.

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Visceral hypersensitivity is currently considered a key pathophysiological mechanism involved in pain perception in large subgroups of patients with functional gastrointestinal disorders, including irritable bowel syndrome (IBS). In IBS, visceral hypersensitivity has been described in 20%?90% of patients. The contribution of the central nervous system and psychological factors to visceral hypersensitivity in patients with IBS may be significant, although still debated. Peripheral factors have gained increasing attention following the recognition that infectious enteritis may trigger the development of persistent IBS symptoms, and the identification of mucosal immune, neural, endocrine, microbiological, and intestinal permeability abnormalities. Growing evidence suggests that these factors ...

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Environmental tobacco smoke (ETS), containing the developmental neurotoxicant, nicotine, is a prevalent component of indoor air pollution. Despite a strong association with active maternal smoking and sudden infant death syndrome (SIDS), information on the risk of SIDS due to prenatal and postnatal ETS exposure is relatively inconsistent. This literature review begins with a discussion and critique of existing epidemiologic data pertaining to ETS and SIDS. It then explores the biologic plausibility of this association, with comparison of the known association between active maternal smoking and SIDS, by examining metabolic and placental transfer issues associated with nicotine, and the biologic responses and mechanisms that may follow exposure to nicotine. Evidence indicates that prenatal ...

International Nuclear Information System (INIS)

The aim of this research work has been the estimation of the stochastic risk for five barium examinations. The sample was the population attending the Radiological Service of the 'Nuestra Senora de la Victoria' University Hospital, who had been treated with some barium examinations, set in five different groups: oesophagus tract, oesophagus-gastric-duodenal tract, intestinal tract, enteroclysis and double enema. To estimate the stochastic risk, it is necessary to know the organ dose. This can be calculated from the dose-area product which allows us to determine the effective dose using software. The dose-area product is the most suitable quantity to measure in these types of examination. We have evaluated the contribution that each procedure provides to the genetically significant dose, somatically significant dose, collective effective dose, annual effective dose 'per capita' and detriment, which are useful for assessing the population risk of cancer or hereditary ...

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The PMS2 gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC). The previously published PMS2 cDNA sequence lack an upstream in-frame stop codon preceding the presumptive initiating methionine. To evaluate the 5` terminus of the PMS2 coding region further, we isolated additional cDNA clones, RT-PCR products, and the corresponding 5` genomic segment of the PMS2 locus. The PMS2 gene transcripts were found to have heterogeneous but colinear 5` termini, one of which contained an in-frame termination codon preceding the initiating methionine. In addition, a novel gene encoding a 34.5-kDa polypeptide was found to initiate transcriptionally within PMS2 from the opposite strand. 23 refs., 5 figs., 2 tabs.

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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 ...

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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 ...

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Objective To investigate the impact on life quality of women with traumatic and non-traumatic origin fibromyalgia syndrome [FMS]. Method Women affected with FMS were selected and divided into two groups: those with traumatic origin FMS [Group 1] and those with non-traumatic origin FMS [Group 2]. A standard question form was used for the research, as well as the fibromyalgia impact questionnaire [FIQ] for evaluation of life quality. Results Seventy-two patients, 34 for Group 1 and 38 for Group 2 were analyzed. The main triggering symptoms were divorce [23.5 percent of cases] and death in the family [23.5 percent of cases]. In addition to diffuse pain, the main symptoms presented were poor sleep quality, weariness, and paresthesia, with no difference between the groups; migraine had a greate...

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Abstract Aims: The aim of this study was to examine whether metabolic syndrome (MS) is associated with periodontitis in a representative sample of Korean adults, who were involved in the Fourth Korea National Health and Nutrition Examination Survey (KNHANES). Materials and Methods: A total of 7178 subjects over the age of 19 years who participated in KNHANES were examined. MS was defined as the definition proposed by the National Cholesterol Education Program Adult Treatment Panel III and the abdominal obesity cut-off line based on Korean Society for the Study of Obesity. The periodontal status was assessed by the Community Periodontal Index. Multivariate logistic regression analysis was carried out adjusting for the sociodemographics, oral health behaviours and status, and health behaviou...

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BACKGROUNDLifestyle modifications are successfully employed to treat obese and overweight women with polycystic ovary syndrome (PCOS). The aims of the current pilot study were (i) to compare the efficacy on reproductive functions of a structured exercise training (SET) programme with a diet programme in obese PCOS patients and (ii) to study their clinical, hormonal and metabolic effects to elucidate potentially different mechanisms of action.METHODSForty obese PCOS patients with anovulatory infertility underwent a SET programme (SET group, n = 20) and a hypocaloric hyperproteic diet (diet group, n = 20). Clinical, hormonal and metabolic data were assessed at baseline, and at 12- and 24-week follow-ups. Primary endpoint was cumulative pregnancy rate.RESULTSThe two groups had similar demogra...

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We investigated the presence of XMRV in a cohort of Quebec patients with chronic fatigue syndrome (CFS). DNA was purified from activated peripheral blood mononuclear cells (PBMCs) and PCR was used to detect XMRV gag and env in 72 patients. Anti-XMRV antibodies were searched in sera of 62 patients by Western blot analysis. Attempts to detect XMRV antigens was made, using immunofluorescence with Gag anti-p30 antiserum on activated PBMC from 50 patients. Plasma viremia was measured by RT-PCR on 9 subjects. Finally, detection of infectious virus in 113 CFS subjects was made by co-culture of PHA+IL-2 activated PBMC with human LNCaP carcinoma cells, and by infecting the same susceptible cells with plasma, using a reverse transcriptase (RT) assay as a readout in both experiments. No detection of ...

Science.gov (United States)

From May, 1999 to August, 2006, we performed laparoscopic diagnosis and treatment for 103 cases of impalpable testes. Among those we found 5 cases of male pseudohermaphroditism of different etiologies. Three males presented by impalpable testes with ambiguous genitalia and 2 females presented by primary amenorrhea. All of them have 46-XY normal male chromosomal pattern. In the first 3 cases, the etiology was complete gonadal dysgenesis, and 2 cases with persistent Mullerian syndrome. Timed gonadectomy for the first case and laparoscopic orchiopexy for the other 2 cases were performed. For the other 2 female cases, the etiology was complete androgen insensitivity syndrome and laparoscopic bilateral orchiectomy was performed for both of them. All the procedures were done without complications with satisfactory results. PMID:18319558

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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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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;

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

Science.gov (United States)

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 penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic ...

International Nuclear Information System (INIS)

Background. Through PSA screening the rate of prostate cancers detected at an early stage has increased significantly; thus a decrease in mortality can be expected in the near future. Despite all scientific efforts, however, the molecular mechanisms underlying the development and progression of prostate cancer remain poorly understood. Prostate cancer is a disease of aging men and epidemiological evidence supports a major contribution to its development through diet, lifestyle and environmental factors. Genetic instability is the basic phenomenon of tissue cell cancerisation. This instability can be hereditary or due to mutations and other chromosomal aberrations acquired during life. In recent years a large number of interesting data have been collected which show the relationships between focal atrophy and genetic instability of the prostate epithelia. Atrophy can be the result of prostatitis, ischemia as well as of oxidative stress (diet). Several chromosomal ...

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The development of the space HVAC sector during the past 25 years is reviewed. It is shown how the importance of room climate has increased, as illustrated, e.g., by the concepts of 'thermal comfort', 'comfort', and 'sick building syndrome'. A sequel will be published in the next issue of KK. (orig.) [German] Der folgende Beitrag ist eine Bestandsaufnahme im Hinblick auf technologische Entwicklungen in der Klima- und Lueftungstechnik der letzten 25 Jahre, ein Zeitraum in dem sich einiges veraendert hat. Gleichzeitig wird deutlich, welcher Wandel sich bei der Bedeutung des Raumklimas in Gebaeuden vollzogen hat, indem beispielsweise Begriffe wie ''Behaglichkeit'', ''Komfort'' aber auch ''Sick Building Syndrom'' eine immer groessere Rolle spiel(t)en. Die Fortsetzung in der naechsten ...

CERN Multimedia

IMPORTANT REMINDER If you have just come back from one of the regions identified by the WHO as being infected with SARS, it is essential to monitor your state of health for ten days after your return. The syndrome manifests itself in the rapid onset of a high fever combined with respiratory problems (coughing, breathlessness, breathing difficulty). Should these signs appear, you must contact the CERN Medical Service as quickly as possible on number 73802 or 73186 during normal working hours, and the fire brigade at all other times on number 74444, indicating that you have just returned from one of the WHO-identified areas with recent local transmission.China: Beijing, Hong Kong (Special Administrative Region), Guangdong Province, Inner Mongolia, Shanxi Province, Tianjin ProvinceTaiwan:TaipeiMoreover, until further notice the CERN Management requests that all trips to these various regions of the world be reduced to a strict minimum and then only with the consent ...

Science.gov (United States)

The purpose of this investigation was to determine the association between gender and the prevalence and incidence of patellofemoral pain syndrome (PFPS). One thousand five hundred and twenty-five participants from the United States Naval Academy (USNA) were followed for up to 2.5 years for the development of PFPS. Physicians and certified athletic trainers documented the cases of PFPS. PFPS was defined as retropatellar pain during at least two of the following activities: ascending/descending stairs, hopping/jogging, prolonged sitting, kneeling, and squatting, negative findings on examination of knee ligament, menisci, bursa, and synovial plica, and pain on palpation of either the patellar facets or femoral condyles. Poisson and logistic regressions were performed to determine the association between gender and the incidence and prevalence of PFPS, respectively. The incidence rate for PFPS was 22/1000 person-years. Females were 2.23 times (95% CI: 1.19, 4.20) more ...

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Aluminum toxicity has been implicated in the pathogenesis of a number of clinical disorders in patients with chronic renal failure on long-term intermittent hemodialysis treatment. The predominant disorders have been those involving either bone (osteomalacic dialysis osteodystrophy) or brain (dialysis encephalopathy). In nonuremic patients, an increased brain aluminum concentration has been implicated as a neurotoxic agent in the pathogenesis of Alzheimer's disease and was associated with experimental neurofibrillary degeneration in animals. The brain aluminum concentrations of patients dying with the syndrome of dialysis encephalopathy (dialysis dementia) are significantly higher than in dialyzed patients without the syndrome and in nondialyzed patients. Two potential sources for the increased tissue content of aluminum in patients on hemodialysis have been proposed: (1) intestinal absorption from aluminum containing phosphate-binding ...

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We evaluated robotically assisted laparoscopic adrenalectomy (RLA) in a prospective study of 100 consecutive patients (60 women and 40 men) undergoing unilateral adrenalectomy at the University Hospital. The median age was 59 (24?82) years and BMI 27.6 (17.1?40.9) kg/m2. Preoperative diagnoses were Conn?s syndrome 30%, pheochromocytoma 23%, Cushing syndrome 27% and non-functional tumor 20%. The median tumor size was 53 (10?106) mm. The majority of the 7% of the patients who were converted to open surgery were in the early phase after the introduction of the technique. The BMI of the patients who were converted to open surgery was significantly higher, 31.5 (range 25.3?37.8) compared to, 27.5 (range 17.1?40.9) in patients without conversion (P?=?0.047). The median weight of the tumor was 51...

International Nuclear Information System (INIS)

Radioimmunoassay of serum myoglobin was done in 53 patients with polymyositis syndromes and other conditions. Serum myoglobin values in 33 healthy subjects ranged from 4 to 77 [mean 33.3 +/- 19.8 (SD)] ng/ml. Fifty percent of polymyositis patients had elevated serum myoglobin levels (greater than 80 ng/ml). Serum myoglobin values in polymyositis patients fluctuated more sensitively than CPK and GOT. Combined estimation of myoglobin and CPK offers advantages for the detection of muscle injury and the prediction of disease exacerbation.

Science.gov (United States)

Spinal cord stimulation (SCS) is frequently used for relief of chronic benign pain resistant to conservative therapies. Clinical practice suggests, at least in patients with failed back surgery syndrome (FBSS), the possibility that SCS significantly improves motor performances. We present here the case of a 41-years-old female patient with FBSS, who showed a clear improvement in muscle strength after SCS, persisting at 6-months follow-up. We speculate that the electrical stimulation of posterior columns could potentiate the caudal, segmental spinal reflexes resulting in a facilitation of motoneurons activation. PMID:16175150

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Computerized tomography of the adrenal glands was performed in 10 patients with Cushing's syndrome using a G.E. 8800 CT/T Body Scanner. The tomographic findings of unilateral adrenal masses in 4 patients were confirmed by surgery. In the remaining 6 patients, computerized tomography did not identify any masses, and both glands were well visualized and showed normal shape. In these patients, measurement of the adrenal glands revealed both normal (n=1) and enlarged glands (n=5). The findings of adrenalectomy (n=4) or transphenoidal surgery and follow-up (n=2) established the diagnosis of adrenal phyperplasia in all patients. (Author).

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During the past 10 years, five infants with Kasabach-Merritt syndrome (K-M) receiving radiation therapy were reported. We investigated whether radiation therapy for K-M was useful and what the unfavorable factors of K-M were. During the past 10 years, we have treated five infants with K-M. The syndrome occurred at ages ranging from birth to 4 months. The incidence of female to male ratio was 3:2. Among 5 cases, the site of hemangioma was as follows; shoulder, anterior chest wall, lower abdominal wall, face and neck and inguinal site. All 5 cases received medication to control the coagulopathy including prednisone and blood transfusion at first. Because the platelet count and the bleeding tendency did not improve in any case, these cases received radiation therapy. Total dose ranged from 5 to 10 Gy and fraction-size ranged from 0.5 to 1.75 Gy. Irradiation session was 2 or 3 times per week. In 5 cases, 4 cases showed cure of bleeding tendency and ...

Science.gov (United States)

The study evaluates 160 cases of positive spermioculture taken from 522 sterile individuals examined by the authors at the Couple Sterility Outpatient unit in Department A of the Institute of Gynecology and Obstetrics at Turin University during the period between January 1984 and December 1993. The germs responsible for infection were assayed in order to evaluate the strains which showed the highest incidence every year. Whereas there was no significant change in the absolute number of cases of sterility over the period, the number of cases caused by infection increased significantly during the second five-year period. It was found that the germs predominantly implicated in the genesis of male sterility formed part of the so-called mixed flora group, responsible in women for syndromes of often asymptomatic bacterial vaginosis which are not identified and consequently not treated. PMID:8559444

Science.gov (United States)

Clinical and hormonal indices of androgenic activity were compared in 118 males chronically intoxicated with alcohol. The population was divided into two groups with respect to their clinical and hormonal androgenic indices: 76 patients with (Group 1), and 46 patients without (Group 2) androgenic insufficiency. Distinct signs and syndromes of alcohol addiction were shown to correlate with the extent of cross-regulation impairment within hypothalamo-hypophyseo-gonadal system. This was particularly derived from comparison of clinical picture of chronic alcohol intoxication and hormone activity in the groups. Conventional therapy failed to restore the neuroendocrine indices that was apparently due to inhibition of cross-regulation links in the hypothalamo-hypophyseo-gonadal system at several stages of alcohol addiction. PMID:3223149

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Patients with acute myocardial infarction (AMI) and diabetes mellitus, as well as patients admitted with elevated blood glucose without known diabetes, have impaired outcome. Therefore intensive glucose-lowering therapy with insulin (IGL) has been proposed in diabetic or hyperglycaemic patients and has been shown to improve survival and reduce incidence of adverse events. The current manuscript provides an overview of randomised controlled trials investigating the effect of IGL. Furthermore, systematic glucose?insulin?potassium infusion (GIK) has been studied to improve outcome after AMI. In spite of positive findings in some early studies, GIK did not show any beneficial effects in recent clinical trials and thus this concept has been abandoned. While IGL targeted to achieve normoglycaemi...

Energy Technology Data Exchange (ETDEWEB)

An uncomfortable thermal climate, draft complaints and a bad airquality are often related to the climate installation. To avoid badfunctioning of the system a number of preconditions has to be fulfilledwith regard to design, planning and execution, adjustments, completion,control, maintenance and management of the installations. First threetypes of health problems in buildings are shortly discussed: buildingrelated illness, sick building syndrome and building or installationrelated complaints. Then some functions of the climate installationsare described: air filtration, filter classes and filter quality, aswell as investment costs for better filters. Next the causes for thecomplaints are dealt with: air conditioning, ventilation, air quality,and temperatures. Subsequently health affecting aspects in relation tothe climate systems are discussed: outdoor air pollution,microorganisms, bacteria (legionella pneumophila), allergies, ionneutralization and performance of ...

International Nuclear Information System (INIS)

The authors have performed I-123 IMP single- photon emission CT (SPECT) brain imaging on seven mildly demented patients with acquired immunodeficiency syndrome (AIDS) and on seven normal subjects. Pixel-intensity histograms have been analyzed for the fraction of pixels in the lowest quartile of the intensity range. This fraction (F) averaged 17.7% (standard deviation [SD] = 4.3) in the AIDS group and 12.6 (SD = 4.7) in the normal group (P <.05). Regression analysis of neuropsychological testing (NPT) scores vs F yielded a correlation coefficient of.71. The presence or degree of atrophy did not correlate with F or NPT scores.

International Nuclear Information System (INIS)

Between 1983 and 1986, 35 of 90 patients with acquired immunodeficiency syndrome (AIDS) had double-contrast esophagograms to rule out opportunistic esophagitis. The radiographs were reviewed without knowledge of the clinical or endoscopic findings. Candida esophagitis was diagnosed radiographically in 17 patients who had varying degrees of plaque formation and viral esophagitis in three who had discrete ulcers without plaques. All three patients with viral esophagitis (herpes in 2 and cytomegalo virus in one) and 15 of 17 with Candida esophagitis had endoscopic and/or clinical corroboration of the radiographic diagnosis. Thus, the authors' experience suggests that fungal and viral esophagitis can often be differentiated on double-contrast esophagography, so that appropriate antifungal or antiviral therapy can be instituted without need for endoscopic intervention.

British Library Electronic Table of Contents (United Kingdom)

Toxigenic Clostridium sordellii strains are increasingly recognized to cause highly lethal infections in humans that are typified by a toxic shock syndrome (TSS). Two glucosylating toxins, lethal toxin (TcsL) and hemorrhagic toxin (TcsH) are believed to be important in the pathogenesis of TSS. While non-toxigenic strains of C. sordellii demonstrate reduced cytotoxicity in vitro and lower virulence in animal models of infection, there are few data regarding their behavior in humans. Here we report a non-TSS C. sordellii infection in the context of a polymicrobial bacterial cholangitis. The C. sordellii strain associated with this infection did not carry either the TcsL-encoding tcsL gene or the tcsH gene for TcsH. In addition, the strain was neither cytotoxic in vitro nor lethal in a murine...

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Background: Intestinal failure (IF) is the dependence upon parenteral nutrition to maintain minimal energy requirements for growth and development. It may occur secondary to a loss of bowel length, disorders of motility, or both. Short bowel syndrome (SBS) is a malabsorptive state resulting from surgical resection, congenital defect, or diseases associated with loss of absorptive surface area. A particularly vexing problem is associated with whole bowel and/or segmental intestinal dysmotility. Motility disorders within the context of SBS and IF may relate to rapid intestinal transit secondary to loss of intestinal length, dysmotility associated with loss or poor antegrade peristalsis, or gastroparesis. Therapy may be classified into medical (prokinetic and antidiarrheal agents) and surgica...

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Fibroblast growth factor (FGF) signaling has been shown to regulate lung epithelial development but its influence on mesenchymal differentiation has been poorly investigated. To study the role of mesenchymal FGF signaling in the differentiation of the mesenchyme and its impact on epithelial morphogenesis, we took advantage of Fgfr2c+/? mice, which due to a splicing switch express Fgfr2b in mesenchymal tissues and manifest Apert syndrome-like phenotypes. Using a set of in vivo and in vitro studies, we show that an autocrine FGF10?FGFR2b signaling loop is established in the mutant lung mesenchyme, which has several consequences. It prevents the entry of the smooth muscle progenitors into the smooth muscle cell (SMC) lineage and results in reduced fibronectin and elastin deposition. Levels of...

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The results of nine years of study of the 237 patients who suffered from acute radiation syndrome (ARS) as a consequence of the Chernobyl accident are reported. Thirty-eight of these patients have died, 28 in the acute period in 1986, 5 in 1987-90 and 5 in 1992-93. The reasons for death show no clear tendencies. They include: gangrene of the lung, organic disease of the brain and spinal chord, hypoplasia of haematopoeisis, coronary heart disease, sarcoma and an automobile accident. Investigations have been carried out on an annual obligatory basis of the patients` haemopoietic, immune, nervous and endocrine systems. An analysis of the data is presented. Histograms are included showing the incidence of digestive tract, nervous system, respiratory and cardiovascular disorders, the frequency and degree of disablement and serum prolactin concentration. The types of skin damage sustained by 39 of the patients are listed. (6 figures, 3 tables). (UK).

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Objectives To investigate the feasibility and reproducibility of measurements of nasal bone length using a three-dimensional (3D) ultrasound in the first trimester. Methods In a prospective study, 118 consecutive pregnant women attending for Down syndrome screening at 11-13 + 6 weeks were recruited. They had successful fetal nasal bone measurement by two-dimensional (2D) ultrasound by four operators. Three-dimensional volumes were recorded in the mid-sagittal plane of fetal profile by the fifth operator and examined using multiplanar techniques. Another independent investigator randomly compared his measurements with one of the four operators. Results In the subsequent 3D examination, the nasal bone length could be examined in 94 cases (79.7%). The mean difference between the 2D and 3D mea...

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Delayed endolymphatic hydrops (DEH) is a unique disorder characterized by fluctuating otologic symptoms in the setting of preexisting unilateral deafness. The symptoms include aural fullness, fluctuating hearing, and/or episodes of vertigo similar to those observed in Meniere disease and may occur ipsilateral or contralateral to the previously deafened ear. In most reported cases, the unilateral deafness has been a profound sensorineural hearing loss with a sudden onset that has been variously attributed to bacterial or viral labyrinthitis, acoustic or cranial trauma, otosclerosis, and congenital CMV infection. Familial occurrence of the syndrome has not previously been reported in the literature. In this report, we describe two possible familial instances of delayed DEH. These patients ra...

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Background/Purpose: Congenital esophageal stenosis (CES) is a rare malformation. Endoscopic dilations represent a therapeutic option. This study retrospectively evaluated the efficacy and safety of a conservative treatment of CES. Patients and Methods: Patients diagnosed with CES since 1980 by a barium study or endoscopy were reviewed. Endoscopic ultrasonography (Olympus UM-3R-20-MHz radial miniprobe, Olympus Corporation, Tokyo, Japan), available from 2001, allowed for the differential diagnosis of tracheobronchial remnants (TBR) and fibromuscular hypertrophy (FMH) CES. All children underwent conservative treatment by endoscopic dilations (hydrostatic and Savary). Results: Forty-seven patients (20 men) had CES. Fifteen were associated with esophageal atresia; and 8, with Down syndrome. Mea...

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Abstract Background: Obstructive sleep apnea (OSA), a highly prevalent condition, is independently associated with increased risks of developing type 2 diabetes mellitus (T2D) and metabolic syndrome. It is unclear, however, if the severity of OSA has any impact on glycemic control among patients with T2D. We therefore aimed to determine the independent association between OSA severity and glycosylated hemoglobin (HbA1c) in patients with T2D. Methods: This was an observational cross-sectional study of 52 consecutive patients attending the diabetes obesity clinic between January 2008 to February 2010 with risk factors for sleep apnea and who underwent polysomnography study. Clinical, demographic, and lifestyle data were recorded using a questionnaire. Results: Prevalence of OSA in this clini...

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In 15 patients (16 hip joints) we found the clinical and radiological signs of BMOS. On T1-weighted MRI images areas of low signal intensity could be observed in the head, neck and the intertrochanteric region of the femur in various extensions. These areas showed a significant increase in signal intensity on the T2-weighted images. Because pain was resistant to conservative therapy all these patients were treated by core decompression of the femoral head in a prospective study. Bone cores were evaluated histologically using undecalcified sections and quantitative microradiography. The existence of intramedullary oedema in exactly the regions exhibiting the MRI pattern of bone marrow oedema was verified histologically; however, bone and marrow changes similar to those of early avascular necrosis (AVN) were also visible. (orig.)

International Nuclear Information System (INIS)

The stages of processes leading to radiation damage are studied, as well as, the direct and indirect mechanics of its production. The radiation effects on nucleic acid and protein macro moleculas are treated. The physical and chemical factors that modify radiosensibility are analysed, in particular the oxygen effects, the sensibilization by analogues of nitrogen bases, post-effects, chemical protection and inherent cell factors. Consideration is given to restoration processes by excision of injured fragments, the bloching of the excision restoration processes, the restoration of lesions caused by ionizing radiations and to the restoration by genetic recombination. Referring to somatic effects of radiation, the early ones and the acute syndrome of radiation are discussed. The difference of radiosensibility observed in mammalian cells and main observable alterations in tissues and organs are commented. Referring to delayed radiation effects, carcinogeneses, ...

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Amphiphysin is a protein concentrated in neuronal synapses and peripherally associated with neurotransmitter vesicles. It is expressed in many neurons of the central and peripheral nervous systems, in the adrenal medulla, in the anterior and posterior pituitary, in cell lines of the endocrine pancreas, and in spermatocytes. Its subcellular localization and tissue distribution indicate a potential involvement in mechanisms of regulated exocytosis. A role in the dynamic organization of the membrane-associated cytoskeleton is suggested by structural homology to the products of two yeast genes, RVS161 and RVS167, whose mutation results in an abnormal actin distribution, disturbs budding morphology, and impairs cell entry into stationary phase. Limited stretches of sequence similarity, including an SH3 domain, are also shared with other actin-binding proteins. Amphiphysin is the dominant autoantigen in paraneoplastic Stiff-Man syndrome, a neurological autoimmune ...

British Library Electronic Table of Contents (United Kingdom)

Hepatocellular carcinoma (HCC) represents a major health problem as it afflicts an increasing number of patients worldwide. Albeit most of the risk factors for HCC are known, this is a deadly syndrome with a life expectancy at the time of diagnosis of less than 1?year. Definition of the molecular principles governing the neoplastic transformation of the liver is an urgent need to facilitate the clinical management of patients, based on innovative methods to detect the disease in its early stages and on more efficient therapies. In the present study, we have combined the analysis of a murine model and human samples of HCC to identify genes differentially expressed early in the process of hepatocarcinogenesis, using a microarray-based approach. Expression of 190 genes was impaired in murine ...

Science.gov (United States)

Placental insufficiency, inducing hypoxia-ischaemia, is considered a major cause of neuronal injury and impaired post natal development. Placental insufficiency alters the metabolism of arachidonic acid and its oxidation products. Premature labour and low-birth-weight infants are associated with reduced intrauterine blood-flow and infections of the reproductive tract. Thyroidal activity is depressed in undernutrition (placental insufficiency). Premature infants require extra vitamin C for normal tyrosine metabolism (tyrosine is the thyroxine precursor). Among the symptoms indicating infantile cretinism, which appear during 3-5 months of age are: delayed union of skull bones, torpid behaviour, slow feeding, cyanosis during feeding, excessive sleepiness, enlarged tongue, umbilical herniation, flabby musculature, short stature and delayed development. These symptoms have all been described in low-birth-weight infants and sudden infant death syndrome victims by various ...

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To evaluate and compare MRI-based ovarian morphology in groups of women with polycystic ovary syndrome (PCOS) and controls. All PCOS cases (n = 44) had oligo-amenorrhoea and hyperandrogenism irrespective of ovarian morphology, and fulfilled NIH/Rotterdam diagnostic criteria for PCOS. All control women (n = 40) had normal menses and normoandrogenaemia. All subjects were of white British/Irish origin and pre-menopausal. Group comparisons were based on independent-sample t tests. Polycystic ovarian morphology was defined by at least 12 follicles 2-9 mm in diameter and/or an ovarian volume greater than 10 cm{sup 3}. Ovarian morphology differed significantly in PCOS cases and controls (follicle number geometric mean [SD range] 18.6 [9.9, 35.0] vs 6.6 [3.1, 14.2], unadjusted P = 1.3 x 10{sup -16}; calculated ovarian volume 8.8 cm{sup 3} [5.0, 15.5] vs 5.1 cm{sup 3} [2.5, 10.3], unadjusted P = 3.0 x 10{sup -7}; peripheral follicle location in 55% vs 18% of ovaries, P = ...

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Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of these mutations, D152H, ...

Energy Technology Data Exchange (ETDEWEB)

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)

Carpal tunnel syndrome (CTS) is a common disorder, for which various conservative treatment options are available. The objective of this study is to determine the efficacy of the various conservative treatment options for relieving the symptoms of CTS. Computer-aided searches of MEDLINE (1/1966 to 3/2000), EMBASE (1/1988 to 2/2000) and the Cochrane Controlled Trials Register (2000, issue 1) were conducted, together with reference checking. Included were randomised controlled trials evaluating the efficacy of conservative treatment options in a study population of CTS patients, with a full report published in English, German, French or Dutch. Two reviewers independently selected the studies. Fourteen randomised controlled trials were included in the review. Assessment of methodological quality and data-extraction was independently performed by two reviewers. A rating system, based on the number of studies and their methodological quality and findings, was used to ...

International Nuclear Information System (INIS)

Full text: Chronic fatigue syndrome (CFS) is a complex disorder characterised by profound fatigue and neuropsychiatric dysfunction. Previous studies with cerebral perfusion SPECT (rCBF) scans were performed with inhomogeneous patient populations and were not analysed with Statistical Parametric Mapping (SPM). We have used SPM to study subjects with moderate CFS based on the Fukuda criteria, who were not on medication and not depressed, compared to age matched control subjects. An apparent bimodal age distribution has been observed in CFS. Subjects were therefore divided into two age groups: 16-35 or under 35 (17 CFS, 11 control) and 36-61 or over 35 (15 CFS, 15 control). HMPAO brain SPECT was acquired on a 3-head camera. After lower window scatter subtraction, reconstruction with attenuation correction (mu=0.15/cm) and editing of facial activity, scans were spatially normalised (affine + 2x3x2 nonlinear) to SPM's anatomical space. SPM statistical analysis yielded ...

Science.gov (United States)

To which idea of truth may medicine refer? Evidence-based medicine (EBM) is rooted in the scientific truth. To explain the meaning and to trace the evolution of scientific truth, this article outlines the history of the Scientific Revolution and of the parable of Modernity, up to the arrival of pragmatism and hermeneutics. Here, the concept of truth becomes somehow discomfiting and the momentum leans towards the integration of different points of view. The fuzzy set theory for the definition of disease, as well as the shift from disease to syndrome (which has operational relevance for geriatrics), seems to refer to a more complex perspective on knowledge, albeit one that is less defined as compared to the nosology in use. Supporters of narrative medicine seek the truth in the interpretation of the patients' stories, and take advantage of the medical humanities to find the truth in words, feelings and contact with the patients. Hence, it is possible to mention the ...

DEFF Research Database (Denmark)

Background:The validity of dementia diagnoses in the Danish nationwide hospital registers was evaluated to determine the value of these registers in epidemiological research about dementia. Methods: Two hundred patients were randomly selected from 4,682 patients registered for the first time with a dementia diagnosis in the last 6 months of 2003. The patients' medical journals were reviewed to evaluate if they fulfilled ICD-10 and/or DSM-IV criteria for dementia and specific dementia subtypes. The patients who were still alive in 2006 were invited to an interview. Results: One hundred and ninety-seven journals were available for review and 51 patients were interviewed. A registered diagnosis of dementia was found to be correct in 169 (85.8%) cases. Regarding dementia subtypes, the degree of agreement between the registers and the results of the validating process was low with a kappa of 0.36 (95% CI 0.24-0.48). Conclusion: The validity of dementia syndrome in the ...

Energy Technology Data Exchange (ETDEWEB)

The Zollinger-Ellison syndrome (ZES) is taken as an example of the diagnostic and therapeutic strategy in gastro-entero-pancreatic endocrine tumours, given the standard characteristics of this procedure, whatever the nature of the primitive tumour. Management of ZES includes: anatomical localization of gastrinoma and of possible metastases, in 60 % of cases this step conditioning therapeutic indications and chances of cure; search of a type 1-multiple endocrine neoplasia (MEN A), in 25 % of cases; therapeutic indications: ablative surgery with curative intent in case of gastrinoma and of resectable liver metastases, palliative treatment otherwise: anti-secretory drugs, somatostatin analogues, chemotherapy and interferon {alpha}; long-term follow-up of patients with resected tumour. At each step, somatostatin receptor scintigraphy with indium 111-pentetreotide does play a pivotal role. (author). 110 refs.

International Nuclear Information System (INIS)

Central Nervous System (CNS) involvement, whether primary by the Human Immunodeficiency Virus - HIV - itself, or secondary (toxoplasmosis or lymphoma) is remarkably frequent in AIDS, in 40 to 70% of cases, depending upon the author. In order to study the natural history of this illness, a cohort of 25 asymptomatic seropositive patients have been established. Every 6 months these patients undergo biological and clinical examinations, as well as Magnetic Resonance brain scans. After two examinations at a 6 month's interval, the first results are reported. Out of these 25 cases, 9 present anomalies: One patient with diffuse cerebral atrophy and 8 others with high signal intensity areas on T2 weighted sequences, like those of the Multiple Sclerosis. No relationship could be demonstrated between the existence of these lesions and various criteria such as age, sex, risk factors and T4 cells count. The nature of these lesions is not lear. They certainly indicate early involvement of the CNS ...

British Library Electronic Table of Contents (United Kingdom)

The aim of this pilot study was to evaluate the feasibility of long-term subcutaneous application of low-dose IL-2 in children with malignancies at very high risk of relapse who underwent highly T cell and B cell depleted HLA-identical (MUD) or full haplotype mismatched related hematopoetic stem cell transplantation. We studied 11 patients with acute leukemias/myelodysplastic syndrome and juvenile myelomonocytic leukemia (active disease and/or second stem cell transplantation, n = 8; >=CR 2, n = 2) and relapsed or progressive Ewings sarcoma (n = 2) who received prophylactic IL-2 treatment for a high probability of disease recurrence after allo-HSCT. Toxicities from IL-2 were transient fever, fatigue and local inflammation. In one patient GvHD grade III with no clear association to IL-2 adm...

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The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.

International Nuclear Information System (INIS)

Thirty-six patients with acquired immunodeficiency syndrome (AIDS), who were febrile but without localizing signs, underwent indium-111 leukocyte scintigraphy 24 hours after injection of labeled white blood cells (WBCs) and were restudied 48 hours after injection of gallium-67 citrate. Fifty-six abnormalities were identified as possible sources of the fever; 27 were confirmed with biopsy. Of these 27, 15 were identified only on In-111 WBC scans (including colitis, sinusitis, and focal bacterial pneumonia); six, only on Ga-67 scans (predominantly Pneumocystis carinii pneumonia and lymphadenopathy); and six, on both studies (predominantly pulmonary lesions). In-111 WBC scanning revealed 21 of 27 abnormalities (78%) and gallium scanning, 12 of 27 (44%). If only one scintigraphic study has been performed, particularly with Ga-67, a significant number of lesions would not have been detected. The authors believe radionuclide evaluation of the febrile AIDS patient without ...

British Library Electronic Table of Contents (United Kingdom)

Background 2009 pandemic influenza A(H1N1) has led to a global increase in severe respiratory illness. Little is known about kidney outcomes and dialytic requirements in critically ill patients infected with pandemic H1N1. Study Design Prospective observational study. Setting & Participants 50 patients with pandemic H1N1 admitted to any of 7 intensive care units in Manitoba, Canada, were prospectively followed. Outcome & Measurements Outcomes were kidney injury and kidney failure defined using RIFLE (risk, injury, failure, loss, end-stage disease) criteria or need for dialysis therapy. Results The pandemic H1N1 group was composed of 50 critically ill patients with pandemic H1N1 with severe respiratory syndrome (47 confirmed cases, 3 probable). Kidney injury, kidney failure, a...

International Nuclear Information System (INIS)

Purpose: To assess the role of CT in the evaluation of traumatic and spontaneous oesophageal perforation. Materials and methods: From March 2001 to May 2003, we studied 12 patients (7 males and 5 females; age range: 25-66 years, mean age: 43.5 years) with suspected oesophageal perforation due to motor-vehicle accidents (4 cases), stab wound (one case), post-intubation (2 cases), foreign body ingestion (2 cases) and spontaneous (3 cases). Five patients underwent standard chest and cervical radiography; two patients with suspected foreign body ingestion also underwent a gastrografin swallow study; all of the 12 patients underwent CT of the neck, chest and abdomen before and after intravenous, and in four cases oral, administration of contrast material. Results: In 5 patients with cervical, thoracic and abdominal trauma, the CT examination showed the presence of pleuroparenchymal injury (pneumothorax, pleural effusion and subcutaneous emphysema) as well as findings suggestive of ...

Energy Technology Data Exchange (ETDEWEB)

The intracellular A chromogranin (ACg) is specific in neuroendocrine cells. This work is a contribution to the study of clinical interest of serumal dosage of this protein in a series of patients carrying neuroendocrine tumors (NET). From January `94 to November `96, 143 patients were subjected to OctreoScan scintigraphy and/or to MIBG. In 104 of them a dosage of ACg by RIA method was effectuated. A study of a statistical relation was performed on the rate of ACg and histopathological, clinical and scintigraphic criteria. Analysis of results excluded the patients with abnormal creatininemy; it referred exclusively to the patients the histopathology of whose it was proved. The global results concerning the sensitivity and specificity of ACg are: 68% and 92%, respectively, for a threshold of normality at 100 ng/ml; 65% and/or 100% for a threshold at 110 ng/ml. There is a significant difference between the group of patients with NET (70 patients): 371 {+-} 59 ng/ml and the group of ...

International Nuclear Information System (INIS)

The purpose of this study was to evaluate the safety and efficacy of percutaneous ultrasound (US)-guided radiofrequency ablation (RFA) in patients with intrahepatic cholangiocarcinoma (ICCA) in a small, nonrandomized series. From February 2004 to July 2008, six patients (four men and two women; mean age 69.8 years [range 48 to 83]) with ICCA underwent percutaneous US-guided RFA. Preintervetional transarterial embolization was performed in two cases to decrease heat dispersion during RFA in order to increase the area of ablation. The efficacy of RFA was evaluated using contrast-enhanced dynamic computed tomography (CT) 1 month after treatment and then every 3 months thereafter. Nine RFA sessions were performed for six solid hepatic tumors in six patients. The duration of follow-up ranged from 13 to 21 months (mean 17.5). Posttreatment CT showed total necrosis in four of six tumors after one or two RFA sessions. Residual tumor was observed in two patients with larger tumors (5 and 5.8 cm ...

International Nuclear Information System (INIS)

The potential application of radioisotopes are not discussed in this review of trypanosome pathogenesis in cattle. Initially, structural changes in the lymphoid system are characterized by marked proliferation and germinal centre formation, whereas in long-standing infections the lymphoid organs become depleted. These changes appear associated with immunodepression. Anaemia dominates the clinical disease syndrome in bovine trypanosomiasis. It develops with the onset of parasitaemia and is largely haemolytic, resulting from increased red blood cell destruction by phagocytosis. Several factors may be involved in this process including haemolysins produced by the trypanosome, immunological mechanisms, fever, disseminated intravascular coagulation and an expanded and active mononuclear phagocytic system. During this phase of the disease, cattle respond well to chemotherapy. However, in later phases of the disease, when trypanosomes cannot be detected, the anaemia ...

Science.gov (United States)

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 mortality. Further, the resolution of T2DM has long been understood to precede weight loss, and this finding provides important clues about the physiologic underpinnings of the ...

International Nuclear Information System (INIS)

The OASIS Registry started annual collection of longitudinal data on patients on home parenteral nutrition (HPN) in 1984. This report describes outcome profiles on 1594 HPN patients in seven disease categories. Analysis showed clinical outcome was principally a reflection of the underlying diagnosis. Patients with Crohn's disease, ischemic bowel disease, motility disorders, radiation enteritis, and congenital bowel dysfunction all had a fairly long-term clinical outcome, whereas those with active cancer and acquired immunodeficiency syndrome (AIDS) had a short-term outcome. The long-term group had a 3-year survival rate of 65 to 80%, they averaged 2.6 complications requiring hospitalization per year, and 49% experienced complete rehabilitation. The short-term group had a mean survival of 6 months; they averaged 4.6 complications per year and about 15% experienced complete rehabilitation. The registry data also indicated HPN was used for 19,700 patients in 1987 with ...

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 ...

Energy Technology Data Exchange (ETDEWEB)

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 ...