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Sample records for abnormalities multiple

  1. Real-time Multiple Abnormality Detection in Video Data

    DEFF Research Database (Denmark)

    Have, Simon Hartmann; Ren, Huamin; Moeslund, Thomas B.

    2013-01-01

    Automatic abnormality detection in video sequences has recently gained an increasing attention within the research community. Although progress has been seen, there are still some limitations in current research. While most systems are designed at detecting specific abnormality, others which...... are capable of detecting more than two types of abnormalities rely on heavy computation. Therefore, we provide a framework for detecting abnormalities in video surveillance by using multiple features and cascade classifiers, yet achieve above real-time processing speed. Experimental results on two datasets...

  2. Abnormal behavior of the least squares estimate of multiple regression

    Institute of Scientific and Technical Information of China (English)

    陈希孺; 安鸿志

    1997-01-01

    An example is given to reveal the abnormal behavior of the least squares estimate of multiple regression. It is shown that the least squares estimate of the multiple linear regression may be "improved in the sense of weak consistency when nuisance parameters are introduced into the model. A discussion on the implications of this finding is given.

  3. In-utero carbon monoxide poisoning and multiple fetal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Hennequin, Y.; Blum, D.; Vamos, E.; Steppe, M.; Goedseels, J.; Cavatorta, E. (Free Univ. of Brussels (Belgium). Queen Fabiola Children' s Hospital)

    1993-01-23

    Carbon monoxide (CO) poisoning during pregnancy can lead to feto-maternal fatalities and stillbirths. Teratogenic effects have been reported. The authors strongly suspected an association between mild but chronic CO poisoning of the mother and major multiple malformations in the baby. Retrospective interviews of the mother disclosed that at 10 weeks' gestation, she had complained of headache and dizziness. At the same time, her 16-month-old daughter had an episode of unconsciousness. A faulty kitchen gas water-heater was suspected but the family did not have it repaired. The mother continued to have headaches regularly. During the 7th month of pregnancy, the daughter was found comatose. In the emergency ward, carboxyhemoglobins levels were 27.5% for the child and 14% for the pregnant mother. Both were treated with hyperbaric oxygen. Investigations by the gas company revealed a highly abnormal CO production from the kitchen and bathroom gas-water heaters: 120 and 100 parts per million, respectively, after 2 minutes of use.

  4. [A new (?) multiple abnormality complex similar to the Poland syndrome].

    Science.gov (United States)

    Gugliantini, P; Saguì, L; Parri, C; Seganti, G; Cavalletti, P

    1984-01-01

    The report describes a case Poland's Syndrome - like in which the hypoplasia of the left major pectoralis muscle was associated with: subtotal aplasia of sternal body, severe hypoplasia of the ipsilateral scapula, humerus and forearm bones, tetradactyly in the ipsilateral hand, partial defect of the diaphragm with thoracic migration of the left hepatic lobe and secondary dextrocardia (false dextrocardia). Syndactyly was absent. The contribution is aimed to join out the radiological characteristics of the syndrome as well as the specific contribution provided in the case by Ultrasounds and aortography. Furthermore, the analysis of the case seems to indicate a strict relationship between the abnormalities of diaphragm, pectoralis muscle and homolateral upper limb.

  5. Retinal abnormalities in multiple sclerosis patients with associated chronic cerebrospinal venous insufficiency

    Directory of Open Access Journals (Sweden)

    Aneta Adamczyk-Ludyga

    2012-06-01

    Full Text Available Optical coherence tomography (OCT is a non-invasive method for the assessment of optic nerve fibers and retinal ganglion cells. This study was aimed at the assessment of retinal abnormalities in multiple sclerosis patients in the context of chronic cerebrospinal venous insufficiency using OCT of the retina and the optic nerve. We examined 239 multiple sclerosis (MS patients, including 220 patients with associated chronic cerebrospinal venous insufficiency and 19 MS patients without venous pathology. The following OCT parameters were assessed: average ganglion cell complex thickness, global loss volume, focal loss volume and average retinal nerve fibre layer thickness. Abnormalities in the azygous and internal jugular veins were evaluated using catheter venography. We found a higher prevalence of abnormal OCT parameters in the patients with previous history of optic neuritis, not only on the side of inflammatory event, but also in the contralateral eye, which is in line with already existing body of evidence. The new and intriguing discovery is that we found statistically significant higher prevalence of abnormal OCT values in multiple sclerosis patients with unilateral stenosis of internal jugular vein. Patients who were not found venous abnormalities, as well as those presenting with pathologic azygous or bilateral internal jugular venous outflows, did not demonstrate a changed frequency of abnormal OCT parameters. Potential association between venous malformations and eye manifestations of multiple sclerosis, as has been demonstrated in this report, justifies further studies on this topic.

  6. Sepsis: Multiple Abnormalities, Heterogeneous Responses, and Evolving Understanding

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    Iskander, Kendra N.; Osuchowski, Marcin F.; Stearns-Kurosawa, Deborah J.; Kurosawa, Shinichiro; Stepien, David; Valentine, Catherine

    2013-01-01

    Sepsis represents the host's systemic inflammatory response to a severe infection. It causes substantial human morbidity resulting in hundreds of thousands of deaths each year. Despite decades of intense research, the basic mechanisms still remain elusive. In either experimental animal models of sepsis or human patients, there are substantial physiological changes, many of which may result in subsequent organ injury. Variations in age, gender, and medical comorbidities including diabetes and renal failure create additional complexity that influence the outcomes in septic patients. Specific system-based alterations, such as the coagulopathy observed in sepsis, offer both potential insight and possible therapeutic targets. Intracellular stress induces changes in the endoplasmic reticulum yielding misfolded proteins that contribute to the underlying pathophysiological changes. With these multiple changes it is difficult to precisely classify an individual's response in sepsis as proinflammatory or immunosuppressed. This heterogeneity also may explain why most therapeutic interventions have not improved survival. Given the complexity of sepsis, biomarkers and mathematical models offer potential guidance once they have been carefully validated. This review discusses each of these important factors to provide a framework for understanding the complex and current challenges of managing the septic patient. Clinical trial failures and the therapeutic interventions that have proven successful are also discussed. PMID:23899564

  7. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

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    Unger, S.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Briggs, M.D.; Holden, P. [Wellcome Trust Centre for Cell-Matrix Research, University of Manchester (United Kingdom); Zabel, B. [Children' s Hospital, Univ. of Mainz (Germany); Ala-Kokko, L.; Paassilta, P.; Lohiniva, J. [Dept. of Medical Biochemistry, Univ. of Oulu (Finland); Rimoin, D.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Lachman, R.S. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Department of Radiology, UCLA School of Medicine, Los Angeles, CA (United States); Cohn, D.H. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA (United States)

    2001-01-01

    Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype. (orig.)

  8. Genetic and infectious profiles influence cerebrospinal fluid IgG abnormality in Japanese multiple sclerosis patients.

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    Satoshi Yoshimura

    Full Text Available BACKGROUND: Abnormal intrathecal synthesis of IgG, reflected by cerebrospinal fluid (CSF oligoclonal IgG bands (OBs and increased IgG index, is much less frequently observed in Japanese multiple sclerosis (MS cohorts compared with Western cohorts. We aimed to clarify whether genetic and common infectious backgrounds influence CSF IgG abnormality in Japanese MS patients. METHODOLOGY: We analyzed HLA-DRB1 alleles, and IgG antibodies against Chlamydia pneumoniae, Helicobacter pylori, Epstein-Barr virus nuclear antigen (EBNA, and varicella zoster virus (VZV in 94 patients with MS and 367 unrelated healthy controls (HCs. We defined CSF IgG abnormality as the presence of CSF OBs and/or increased IgG index (>0.658. PRINCIPAL FINDINGS: CSF IgG abnormality was found in 59 of 94 (62.8% MS patients. CSF IgG abnormality-positive patients had a significantly higher frequency of brain MRI lesions meeting the Barkhof criteria compared with abnormality-negative patients. Compared with HCs, CSF IgG abnormality-positive MS patients showed a significantly higher frequency of DRB1 1501, whereas CSF IgG abnormality-negative patients had a significantly higher frequency of DRB1 0405. CSF IgG abnormality-positive MS patients had a significantly higher frequency of anti-C. pneumoniae IgG antibodies compared with CSF IgG abnormality-negative MS patients, although there was no difference in the frequency of anti-C. pneumoniae IgG antibodies between HCs and total MS patients. Compared with HCs, anti-H. pylori IgG antibodies were detected significantly less frequently in the total MS patients, especially in CSF IgG abnormality-negative MS patients. The frequencies of antibodies against EBNA and VZV did not differ significantly among the groups. CONCLUSIONS: CSF IgG abnormality is associated with Western MS-like brain MRI features. DRB1 1501 and C. pneumoniae infection confer CSF IgG abnormality, while DRB1 0405 and H. pylori infection are positively and negatively

  9. A case of multiple abnormalities with eustachian tube obstruction by a protruded internal carotid artery.

    Science.gov (United States)

    Shinnabe, Akihiro; Hara, Mariko; Matsuzawa, Shingo; Hasegawa, Masayo; Kodama, Kozue; Kanazawa, Hiromi; Yoshida, Naohiro; Iino, Yukiko

    2011-03-01

    We report a case of multiple abnormalities with eustachian tube obstruction by a protruded internal carotid artery. A 10-year-old male presented with multiple abnormalities including anomalous pinna, poor eyesight, facial palsy, moderate conductive deafness, and otitis media with effusion. Temporal bone computed tomography demonstrated obstruction of the right eustachian tube by a protruded internal carotid artery. Insertion of a tympanostomy tube did not improve his hearing, indicating a possible ossicular chain anomaly. Although tympanoplasty is necessary to improve the patients' hearing, the poor drainage function makes this difficult. Knowledge of this vascular anomaly is important when performing myringotomy or tympanoplasty.

  10. Retinal abnormalities in multiple sclerosis patients with associated chronic cerebrospinal venous insufficiency

    OpenAIRE

    Aneta Adamczyk-Ludyga; Justyna Wróbeł; Marian Simka; Tomasz Ludyga; Paweł Latacz; Marek Kazibudzki

    2012-01-01

    Optical coherence tomography (OCT) is a non-invasive method for the assessment of optic nerve fibers and retinal ganglion cells. This study was aimed at the assessment of retinal abnormalities in multiple sclerosis patients in the context of chronic cerebrospinal venous insufficiency using OCT of the retina and the optic nerve. We examined 239 multiple sclerosis (MS) patients, including 220 patients with associated chronic cerebrospinal venous insufficiency and 19 MS patients without venous p...

  11. Multiple resting state network functional connectivity abnormalities in mild traumatic brain injury.

    Science.gov (United States)

    Stevens, Michael C; Lovejoy, David; Kim, Jinsuh; Oakes, Howard; Kureshi, Inam; Witt, Suzanne T

    2012-06-01

    Several reports show that traumatic brain injury (TBI) results in abnormalities in the coordinated activation among brain regions. Because most previous studies examined moderate/severe TBI, the extensiveness of functional connectivity abnormalities and their relationship to postconcussive complaints or white matter microstructural damage are unclear in mild TBI. This study characterized widespread injury effects on multiple integrated neural networks typically observed during a task-unconstrained "resting state" in mild TBI patients. Whole brain functional connectivity for twelve separate networks was identified using independent component analysis (ICA) of fMRI data collected from thirty mild TBI patients mostly free of macroscopic intracerebral injury and thirty demographically-matched healthy control participants. Voxelwise group comparisons found abnormal mild TBI functional connectivity in every brain network identified by ICA, including visual processing, motor, limbic, and numerous circuits believed to underlie executive cognition. Abnormalities not only included functional connectivity deficits, but also enhancements possibly reflecting compensatory neural processes. Postconcussive symptom severity was linked to abnormal regional connectivity within nearly every brain network identified, particularly anterior cingulate. A recently developed multivariate technique that identifies links between whole brain profiles of functional and anatomical connectivity identified several novel mild TBI abnormalities, and represents a potentially important new tool in the study of the complex neurobiological sequelae of TBI.

  12. Visual pathway abnormalities were found in most multiple sclerosis patients despite history of previous optic neuritis

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    Stella Maris Costa Castro

    2013-07-01

    Full Text Available Objective It was to investigate visual field (VF abnormalities in a group of multiple sclerosis (MS patients in the remission phase and the presence of magnetic resonance imaging (MRI lesions in the optic radiations. Methods VF was assessed in 60 participants (age range 20-51 years: 35 relapsing-remitting MS patients [20 optic neuritis (+, 15 optic neuritis (-] and 25 controls. MRI (3-Tesla was obtained in all patients. Results Visual parameters were abnormal in MS patients as compared to controls. The majority of VF defects were diffuse. All patients except one had posterior visual pathways lesions. No significant difference in lesion number, length and distribution was noted between patients with and without history of optic neuritis. One patient presented homonymous hemianopsia. Conclusion Posterior visual pathway abnormalities were found in most MS patients despite history of previous optic neuritis.

  13. Morphostructural MRI Abnormalities Related to Neuropsychiatric Disorders Associated to Multiple Sclerosis

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    Simona Bonavita

    2013-01-01

    Full Text Available Multiple Sclerosis associated neuropsychiatric disorders include major depression (MD, obsessive-compulsive disorder (OCD, bipolar affective disorder, euphoria, pseudobulbar affect, psychosis, and personality change. Magnetic Resonance Imaging (MRI studies focused mainly on identifying morphostructural correlates of MD; only a few anecdotal cases on OCD associated to MS (OCD-MS, euphoria, pseudobulbar affect, psychosis, personality change, and one research article on MRI abnormalities in OCD-MS have been published. Therefore, in the present review we will report mainly on neuroimaging abnormalities found in MS patients with MD and OCD. All together, the studies on MD associated to MS suggest that, in this disease, depression is linked to a damage involving mainly frontotemporal regions either with discrete lesions (with those visible in T1 weighted images playing a more significant role or subtle normal appearing white matter abnormalities. Hippocampal atrophy, as well, seems to be involved in MS related depression. It is conceivable that grey matter pathology (i.e., global and regional atrophy, cortical lesions, which occurs early in the course of disease, may involve several areas including the dorsolateral prefrontal cortex, the orbitofrontal cortex, and the anterior cingulate cortex whose disruption is currently thought to explain late-life depression. Further MRI studies are necessary to better elucidate OCD pathogenesis in MS.

  14. Evoked potential abnormalities in multiple sclerosis: a cross sectional study on 25 patients

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    Harirchian MH

    2009-04-01

    Full Text Available "nBackground: Visual, brain stem auditory and somatosensory evoked potentials (EPs have been traditional paraclinical tests to evaluate the competency of sensory tracts in multiple sclerosis (MS patients. It seems that only one of these EPs could be sufficient, at least as a screening test. The objective of this paper is to evaluate the frequency of these three evoked potentials in definite MS patients. "nMethods: This descriptive cross-sectional study involved was 25 definite relapsing remitting MS patients who referred to our university hospital. Twenty five individuals from normal population without any neurologic, visual, auditory or sensory disorders have been evaluated as well to determine the standard values in our electrophysiology lab. Values more than mean+2.5SD for latencies and less than mean-2.5SD for amplitudes were considered as abnormal. "nResults: Fifteen (60%, 13 (52%, and 13 (52% had abnormal visual, auditory and somatosensory EPs respectively. The latency of P100 in visual EP (VEP had the most sensitivity among all of the parameters. It was determined that the possibility of abnormality in each of auditory and somatosensory EPs in the presence of normal VEP could be 30.8%. In other words 30.8% of patients with negative VEP could have a positive auditory brain stem or somatosensory EPs. "nConclusion: In our study, a VEP abnormality was more frequent than auditory brain stem and somatosensory EPs. Thus it is not logical to perform triple EP tests in all suspected MS patients, but auditory and somatosensory EPs could be considered in patients with normal VEP.

  15. Abnormal morphology of myelin and axon pathology in murine models of multiple sclerosis.

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    Bando, Yoshio; Nomura, Taichi; Bochimoto, Hiroki; Murakami, Koichi; Tanaka, Tatsuhide; Watanabe, Tsuyoshi; Yoshida, Shigetaka

    2015-02-01

    Demyelination and axonal damage are responsible for neurological deficits in multiple sclerosis (MS), an inflammatory demyelinating disease of the central nervous system. However, the pathology of axonal damage in MS is not fully understood. In this study, histological analysis of morphological changes of axonal organelles during demyelination in murine models was investigated by scanning electron microscopy (SEM) using an osmium-maceration method. In cuprizone-induced demyelination, SEM showed typical morphology of demyelination in the corpus callosum of mouse brain. In contrast, SEM displayed variations in ultrastructural abnormalities of myelin structures and axonal organelles in spinal cord white matter of experimental autoimmune encephalomyelitis (EAE) mice, an animal model of MS. Myelin detachment and excessive myelin formation were observed as typical morphological myelin abnormalities in EAE. In addition, well-developed axoplasmic reticulum-like structures and accumulated mitochondria were observed in tortuous degenerating/degenerated axons and the length of mitochondria in axons of EAE spinal cord was shorter compared with naïve spinal cord. Immunohistochemistry also revealed dysfunction of mitochondrial fusion/fission machinery in EAE spinal cord axons. Moreover, the number of Y-shaped mitochondria was significantly increased in axons of the EAE spinal cord. Axonal morphologies in myelin basic protein-deficient shiverer mice were similar to those in EAE. However, shiverer mice had "tortuous" (S-curve shaped mitochondria) and larger mitochondria compared with wild-type and EAE mice. Lastly, analysis of human MS patient autopsied brains also demonstrated abnormal myelin structures in demyelinating lesions. These results indicate that morphological abnormalities of myelin and axonal organelles play important role on the pathogenesis of axonal injury in demyelinating diseases.

  16. Prognostic power of abnormal cytogenetics for multiple myeloma:a multicenter study in China

    Institute of Scientific and Technical Information of China (English)

    LAI Yue-yun; FU Wei-ling; GUO Hai-ying; HOU Ming; HOU Jian; HU Yu; HU Xiao-tong; HU Xiao-mei; HUANG Li-qiang; JIN Jie; LI Jian-yong; HUANG Xiao-jun; LI Juan; Li Wei; LIANG Ying-min; LIU Ting; LIU Qi-fa; LIU Yan-hui; MAO Ping; OUYANG Jian; QIU Lu-gui; QIU Lin; CAI Zhen; SHAO Chun-kui; SHI Bin; SONG Yong-ping; SUN Zi-min; WANG Qi-shan; WANG Chun; WANG Jian-ming; WANG Yun-shan; WANG Zhao; WU Jian-bo; CAO Xiang-shan; WU Yin-xia; XIA Rui-xiang; XUE Yong-quan; YANG Bao-zhen; YANG Guang; YANG Zheng-lin; YU Li; YUAN Zhong; ZHANG Sheng; ZHANG Yin; CHEN Fang-ping; ZHAO Hong-guo; ZHAO Li; ZHOU Dao-bin; ZOU Shan-hua; ZHU Yun-feng; CHEN Xie-qun; CHEN Bao-an; FANG Mei-yun; FENG Jia-fu

    2012-01-01

    Background Chromosomal abnormalities have been shown to play an important prognostic role in multiple myeloma (MM).tnterphase fluorescence in situ hybridization (i-FISH) has been much more effective to identify cytogenetic aberrations in MM than conventional cytogenetic technique (CC).To clearly determine the cytogenetic features of Chinese MM patients and identify their prognostic implications,we designed a multicenter study based on i-FISH including 672 patients from 52 hospitals in China.Methods All 672 patients were systematically screened for the following genomic aberrations:del(13q).lgHrearrangement,del(p53) and 1q21 amplifications.Results The analysis showed that the chromosomal changes were detected in 22.1% patients by CC and in 82.3%patients by i-FISH.The most common abnormalities by CC were chromosome 1 aberrations (48.4%),-13/13q- (37.6%),hyperdiploidy (36.6%),hypodiploidy (30.1%) and lgH rearrangements (23.7%).The most frequent abnormalities by FISH was del(13q),which was found in 60.4% patients.whereas IgH rearrangement,1q21 amplification and p53 deletions were detected in 57.6%,49.0% and 34.7% cases.respectively.By statistical analysis.-13/13q- by CC was associated with low level of platelet (P=0.015).hyperdiploidy was associated with low level of serum albumin (P=0.028),and lgH rearrangement by FISH was associated with high level of β32 microglobulin (P=0.019).Moreover,1q21 amplification and del(p53) by FlSH conferred a high incidence of progressive disease (PD) after initial therapy.Metaphase detection of lgH rearrangements and chromosome 1 aberrations concurrently was associated with a short progression free survival (PFS)(P=0.036).No significant prognostic implications of other cytogenetic abnormalities were found associated with overall survival and PFS.Conclusions Chinese MM patients had similar cytogenetic abnormalities compared with the previous reported studies.However,the prognostic significance of FISH aberrations

  17. Abnormally phosphorylated tau is associated with neuronal and axonal loss in experimental autoimmune encephalomyelitis and multiple sclerosis.

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    Anderson, J M; Hampton, D W; Patani, R; Pryce, G; Crowther, R A; Reynolds, R; Franklin, R J M; Giovannoni, G; Compston, D A S; Baker, D; Spillantini, M G; Chandran, S

    2008-07-01

    The pathological correlate of clinical disability and progression in multiple sclerosis is neuronal and axonal loss; however, the underlying mechanisms are unknown. Abnormal phosphorylation of tau is a common feature of some neurodegenerative disorders, such as Alzheimer's disease. We investigated the presence of tau hyperphosphorylation and its relationship with neuronal and axonal loss in chronic experimental autoimmune encephalomyelitis (CEAE) and in brain samples from patients with secondary progressive multiple sclerosis. We report the novel finding of abnormal tau phosphorylation in CEAE. We further show that accumulation of insoluble tau is associated with both neuronal and axonal loss that correlates with progression from relapsing-remitting to chronic stages of EAE. Significantly, analysis of secondary progressive multiple sclerosis brain tissue also revealed abnormally phosphorylated tau and the formation of insoluble tau. Together, these observations provide the first evidence implicating abnormal tau in the neurodegenerative phase of tissue injury in experimental and human demyelinating disease.

  18. Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders

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    Liang, W.; Hopper, J.E.; Rowley, J.D.

    1979-08-01

    Karyotypic abnormalities were detected in the malignant cells of 6 of 18 patients with multiple myeloma (MM). Six patients with benign monoclonal gammopathy, one with amyloidosis of immunoglobulin origin, and two with Waldenstroem's macroglobulinemia had normal karyotypes. All six MM patients with aneuploidy were in a group of 10 patients in an accelerated or relapse phase of their disease and four had high serum paraprotein levels when their abnormal karyotypes were detected. Five of the 6 MM patients with aneuploidy had received prior chemotherapy. Aneuploidy was not observed in 8 stable MM patients. Abnormalities of chromosome 14 were present in all 6 patients. A translocation between Nos. 11 and 14 was found in aneuploid cells of 2 patients who had plasma cell leukemia (PCL). A deletion of chromosome 6 was detected in 2 MM patients and a pericentric inversion of No. 6 was seen in the patient with PCL. Three of 4 MM patients had a nonrandom loss of one chromosome 8. Two other MM patients developed acute nonlymphocytic leukemia (ANLL) after the diagnosis of MM. Marrow cells of one patient showed a 5q- chromosome and a constitutional translocation involving Nos. 13 and 14 during the preleukemic stage; during the leukemic phase, the karyotype evolved to 50 chromosomes including extra chromosomes 1, 6, 8, 10, and 21 and a missing 7, in addition to the originally detected 5q- and the 13/14 translocation.The peripheral blood from the other patient was hypodiploid, with a missing chromosome 7 and a translocation between 3q and 9p. These patterns of chromosome change resemble those of ANLL rather than MM and are similar to the changes seen in ANLL after treated malignant lymphoma.

  19. Spinal cord grey matter abnormalities are associated with secondary progression and physical disability in multiple sclerosis.

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    Kearney, H; Schneider, T; Yiannakas, M C; Altmann, D R; Wheeler-Kingshott, C A M; Ciccarelli, O; Miller, D H

    2015-06-01

    In multiple sclerosis (MS), pathological studies have identified substantial demyelination and neuronal loss in the spinal cord grey matter (GM). However, there has been limited in vivo investigation of cord GM abnormalities and their possible functional effects using MRI combined with clinical evaluation. We recruited healthy controls (HC) and people with a clinically isolated syndrome (CIS), relapsing remitting (RR) and secondary progressive (SP) MS. All subjects had 3 T spinal cord MRI with measurement of cord cross-sectional area and diffusion tensor imaging metrics in the GM and posterior and lateral column white matter tracts using region of interest analysis. Physical disability was assessed using the expanded disability status scale (EDSS) and motor components of the MS functional composite scale. We calculated differences between MS and HC using a ANOVA and associations with disability using linear regression. 113 people were included in this study: 30 controls, 21 CIS, 33 RR and 29 SPMS. Spinal cord radial diffusivity (RD), fractional anisotropy and mean diffusivity in the GM and posterior columns were significantly more abnormal in SPMS than in RRMS. Spinal cord GM RD (β=0.33, pphysical disability in relapse-onset MS and SPMS in particular. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  20. Jugular Venous Flow Abnormalities in Multiple Sclerosis Patients Compared to Normal Controls

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    Sethi, Sean K.; Utriainen, David T.; Daugherty, Ana M.; Feng, Wei; Hewett, J. Joseph; Raz, Naftali; Haacke, E. Mark

    2014-01-01

    Background To determine if extracranial venous structural and flow abnormalities exist in patients with multiple sclerosis (MS). Methods Magnetic resonance imaging was used to assess the anatomy and function of major veins in the neck in 138 MS patients and 67 healthy controls (HC). Time-of-flight (TOF) MR angiography (MRA) was used to assess stenosis while 2D phase contrast flow quantification (PCFQ) was used to assess flow at the C2/C3 and C5/C6 levels. Venous flow was normalized to the total arterial flow. The MS patients were divided into stenotic and non-stenotic groups based on MRA assessment, and each group was compared to the HC group in anatomy and flow. Results The MS group showed lower normalized internal jugular vein (IJV) blood flow (tIJV/tA) than the HC group (p < 0.001). In the MS group, 72 (52%) evidenced stenosis (ST) while 66 (48%) were non-stenotic (NST). In the HC group, 11 (23%) showed a stenosis while 37 (77%) were non-stenotic. The ST-MS group had lower IJV flow than both HC and NST-MS groups. Conclusion After categorizing the MS population into two groups based upon anatomical stenosis determined from an absolute quantification of IJV cross-section, clear differences in IJV flow between the stenotic MS and HC samples became evident. Despite the unknown etiology of MS, abnormal venous flow was noted in a distinct group of MS patients compared to HC. PMID:25316522

  1. Swallowing abnormalities in multiple sclerosis: correlation between videofluoroscopy and subjective symptoms

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    Wiesner, W.; Steinbrich, W. [Institute of Diagnostic Radiology, University Hospital of Basel (Switzerland); Wetzel, S.G.; Radue, E.W. [Institute of Neuroradiology, University Hospital Basel (Switzerland); Kappos, L.; Hoshi, M.M. [Department of Neurology, University Hospital of Basel (Switzerland); Witte, U. [Section of Logopedia, University Hospital of Basel (Switzerland)

    2002-04-01

    The purpose of this study was to evaluate if subjective symptoms indicating an impaired deglutition correlate with videofluoroscopic findings in patients with multiple sclerosis (MS). Videofluoroscopic examinations of 18 MS patients were analyzed by a radiologist and a logopedist and compared with the symptoms of these patients. Four patients complained about permanent dysphagia. Six patients reported mild and intermittent difficulties in swallowing, but were asymptomatic at the time of videofluoroscopy. Eight patients had no symptoms regarding their deglutition. All patients (n=4) who complained of permanent dysphagia showed aspiration. All patients (n=6) with mild and intermittent difficulties in swallowing showed undercoating of the epiglottis and/or laryngeal penetration. Of those 8 patients without any swallowing symptoms, only 2 had a normal videofluoroscopy. Swallowing abnormalities seem to be much more frequent in patients with MS than generally believed and they may easily be missed clinically as long as the patients do not aspirate. (orig.)

  2. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities.

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    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto

    2011-06-01

    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  3. Model observer design for detecting multiple abnormalities in anatomical background images

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    Wen, Gezheng; Markey, Mia K.; Park, Subok

    2016-03-01

    As psychophysical studies are resource-intensive to conduct, model observers are commonly used to assess and optimize medical imaging quality. Existing model observers were typically designed to detect at most one signal. However, in clinical practice, there may be multiple abnormalities in a single image set (e.g., multifocal and multicentric breast cancers (MMBC)), which can impact treatment planning. Prevalence of signals can be different across anatomical regions, and human observers do not know the number or location of signals a priori. As new imaging techniques have the potential to improve multiple-signal detection (e.g., digital breast tomosynthesis may be more effective for diagnosis of MMBC than planar mammography), image quality assessment approaches addressing such tasks are needed. In this study, we present a model-observer mechanism to detect multiple signals in the same image dataset. To handle the high dimensionality of images, a novel implementation of partial least squares (PLS) was developed to estimate different sets of efficient channels directly from the images. Without any prior knowledge of the background or the signals, the PLS channels capture interactions between signals and the background which provide discriminant image information. Corresponding linear decision templates are employed to generate both image-level and location-specific scores on the presence of signals. Our preliminary results show that the model observer using PLS channels, compared to our first attempts with Laguerre-Gauss channels, can achieve high performance with a reasonably small number of channels, and the optimal design of the model observer may vary as the tasks of clinical interest change.

  4. Alterações moleculares no Mieloma Múltiplo Molecular abnormalities in Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Esteban Braggio

    2007-03-01

    Full Text Available Nos últimos anos tem acontecido uma revolução no conhecimento dos mecanismos moleculares envolvidos na patogênese do mieloma múltiplo, principalmente devido à incorporação de técnicas de citogenética molecular (hibridização in situ fluorescente - FISH e biologia molecular (Reação em cadeia da polimerase - PCR, hibridização genômica comparativa baseada em microarranjos - aCGH e microarranjos de RNA. Estas técnicas permitem estudar as células em interfase e detectar alterações cromossômicas crípticas, superando assim problemas metodológicos relacionados à análise por citogenética convencional. Por outro lado, a complexidade metodológica relacionada com a realização das técnicas de FISH e biologia molecular tem impossibilitado que sejam amplamente utilizadas na rotina laboratorial. Este trabalho tem como objetivo fazer uma revisão das principais vias moleculares alteradas no mieloma múltiplo, o seu valor prognóstico e a sua utilização na estratificação dos pacientes em diferentes grupos de risco. São detalhadas diferentes abordagens metodológicas e uma ênfase especial é dada em relação à importância da análise se restringir exclusivamente às células plasmocitárias. Por último, discutimos uma série de prioridades e estratégias de estudo na rotina laboratorial.In recent years, we have seen an explosion in knowledge on genetic and cytogenetic mechanisms involved in the pathogenesis of multiple myeloma, mainly due to the incorporation of molecular tools in its study (fluorescence in situ hybridization - FISH, Real time PCR and RNA microarrays. These tools have enabled the study of cells in interphase and to detect cryptic chromosomal abnormalities, replacing cytogenetic techniques. The technical complexities associated with the performance of these tests, however, have limited their widespread applicability in routine clinical practice. The aim of this work is to review the present status of our

  5. Microstructural abnormalities in the trigeminal nerves of patients with trigeminal neuralgia revealed by multiple diffusion metrics

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Yaou [Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Beijing Key laboratory of MRI and Brain Informatics, Beijing (China); Li, Jiping [Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Butzkueven, Helmut [Department of Medicine, University of Melbourne, Parkville 3010 (Australia); Duan, Yunyun; Zhang, Mo [Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Shu, Ni [State Key Laboratory of Cognitive Neuroscience and Learning, Beijing Normal University, Beijing 100875 (China); Li, Yongjie [Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Zhang, Yuqing, E-mail: yuqzhang@sohu.com [Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Li, Kuncheng, E-mail: kunchengli55@gmail.com [Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China)

    2013-05-15

    Objective: To investigate microstructural tissue changes of trigeminal nerve (TGN) in patients with unilateral trigeminal neuralgia (TN) by multiple diffusion metrics, and correlate the diffusion indexes with the clinical variables. Methods: 16 patients with TN and 6 healthy controls (HC) were recruited into our study. All participants were imaged with a 3.0 T system with three-dimension time-of-flight (TOF) magnetic resonance angiography and fluid attenuated inversion recovery (FLAIR) DTI-sequence. We placed regions of interest over the root entry zone of the TGN and measured fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD). The mean values of FA, MD, AD and RD were compared between the affected and unaffected sides in the same patient, and to HC values. The correlation between the side-to-side diffusion metric difference and clinical variables (disease duration and visual analogy scale, VAS) was further explored. Results: Compared with the unaffected side and HC, the affected side showed significantly decreased FA and increased RD; however, no significant changes of AD were found. A trend toward significantly increased MD was identified on the affected side comparing with the unaffected side. We also found the significant correlation between the FA reduction and VAS of pain (r = −0.55, p = 0.03). Conclusion: DTI can quantitatively assess the microstructural abnormalities of the affected TGN in patients with TN. Our results suggest demyelination without significant axonal injury is the essential pathological basis of the affected TGN by multiple diffusion metrics. The correlation between FA reduction and VAS suggests FA as a potential objective MRI biomarker to correlate with clinical severity.

  6. Prevalence of extracranial venous abnormalities: results from a sample of 586 multiple sclerosis patients.

    Science.gov (United States)

    Simka, M; Latacz, P; Ludyga, T; Kazibudzki, M; Swierad, M; Janas, P; Piegza, J

    2011-01-01

    The aim of this study was to assess the prevalence of chronic cerebrospinal venous insufficiency in an unselected cohort of multiple sclerosis (MS) patients. A total of 586 patients with clinically defined MS underwent catheter venography of the internal jugular veins, brachiocephalic veins and azygos vein. The following findings were regarded as pathologic: no outflow, slowed outflow, reversal of flow direction, prestenotic dilation accompanied by impaired outflow, outflow through collaterals, intraluminal structures obstructing the vein, hypoplasia, agenesia or significant narrowing of the vein. Venous abnormalities were found in 563 patients (96.1%). Lesions in one vein were found in 43.5%, in two veins in 49.5%, and in three veins in 3.1% of patients. Venous pathologies in the right internal jugular vein were found in 64.0% of patients, in the left internal jugular vein in 81.7%, in the left brachiocephalic vein in 1.0%, and in the azygos vein in 4.9%. Venous pathologies were found to be highly associated with MS, yet the clinical relevance of this phenomenon remains to be established.

  7. Contribution of Gray and White Matter Abnormalities to Cognitive Impairment in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Xiaofei Zhang

    2016-12-01

    Full Text Available Patients with multiple sclerosis (MS commonly exhibit cognitive impairments (CI. However, the neural mechanisms underlying CI remain unclear. The current study applied diffusion tensor imaging (DTI and voxel-based morphometric (VBM magnetic resonance imaging (MRI techniques to evaluate differences in white matter (WM integrity and gray matter (GM volume between MS patients with CI and MS patients with cognitive preservation (CP. Neuropsychological assessment and MRI were obtained from 39 relapsing-remitting MS (RRMS patients and 29 healthy controls (HCs. Patients were classified as CI or CP according to cognitive ability, and demographic characteristics and MRI images were compared. Compared with HCs, MS patients exhibited widespread damage in WM integrity, and GM loss in several regions. Compared with CP patients, CI patients exhibited more extensive WM impairments, particularly in the corpus callosum, cerebellar peduncle, corona radiata, optic radiation, superior longitudinal fasciculus, anterior limb of the internal capsule, and cingulate, as well as decreased GM volume in the bilateral caudate, left insula and right temporal lobe. MS patients with CI exhibited more significant structural abnormalities than those with CP. Widespread impairments of WM integrity and selective GM atrophy both appear to be associated with impaired cognition in RRMS.

  8. Strength-Duration Time Constant in Peripheral Nerve: No Abnormality in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Gençer Genç

    2012-01-01

    Full Text Available Objectives. To investigate the properties of the strength-duration time constant (SDTC in multiple sclerosis (MS patients. Methods. The SDTC and rheobase in 16 MS patients and 19 healthy controls were obtained following stimulation of the right median nerve at the wrist. Results. SDTC and rheobase values were 408.3±60.0 μs and 4.0±1.8 mA in MS patients, versus 408.0±62.4 μs and 3.8±2.1 mA in controls. The differences were not significant in SDTC or rheobase values between the patients and controls (=0.988 for SDTC and =0.722 for rheobase. Conclusion. Our study showed no abnormality in relapsing remitting MS patients in terms of SDTC, which gives some indirect information about peripheral Na+ channel function. This may indicate that alterations in the Na+ channel pattern in central nervous system (CNS couldnot be shown in the peripheral nervous system (PNS in the MS patients by SDTC. The opinion that MS can be a kind of channelopathy might be proven by performing other axonal excitability tests or SDTC in progressive forms of MS.

  9. Abnormal MRI in acute optic neuritis and follow-up of patients with regard to multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Soltanzadeh A

    1997-09-01

    Full Text Available Twenty cases of isolated optic neuritis (15 female, 5 male were studied and followed for several months to years after the initial attack. The mean age of patients was 23 years (range: 15-29 years. The most frequent clinical manifestations were decreased visual acuity and blurred vision. A complete neurological examination was performed. In 15 cases (75% the initial brain MRI was abnormal. In fourteen cases, other signs of multiple sclerosis presented in one month to eight years following the initial attack of optic neuritis; eleven of the latter cases had an abnormal initial MRI. Acute optic neuritis can be considered a presenting feature of multiple sclerosis, particulary in the presence of an abnormal brain MRI.

  10. Bilateral microphthalmia and aphakia associated with multiple eye abnormalities in a free-living European red deer calf (Cervus elaphus).

    Science.gov (United States)

    Mutinelli, Franco; Vercelli, Antonella; Carminato, Antonio; Luchesa, Lucio; Pasolli, Claudio; Cova, Mariapia; Marchioro, Wendy; Melchiotti, Erica; Vascellari, Marta

    2012-04-01

    A free-living European red deer calf (Cervus elaphus) was euthanized due to bilateral microphthalmia. Lens was missing, replaced by proliferating squamous epithelial cells; hyperplastic squamous cells, sebaceous and mucinous glands were observed within the cornea with the characteristics of inclusion cyst. Findings were consistent with congenital microphthalmia/aphakia, with multiple eye abnormalities.

  11. Mieloma Múltiplo e distúrbios da hemostasia Hemostatic abnormalities in Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Elbio A. D'Amico

    2007-03-01

    introduced in order to decrease these events, but with variable results. The most adequate antithrombotic regimen has not yet been demonstrated. Recently the International Myeloma Working Group (IMWG developed a survey among its members, resulting in some therapeutic recommendations. This review about hemostatic abnormalities in multiple myeloma had the intention of discussing the different mechanisms responsible for hemorrhagic and thrombotic events in MM, the pharmacological thrombophophylactic measures reported, their results and the recent recommendations of the IMWG.

  12. Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.

    Science.gov (United States)

    Cockwell, A E; Maloney, V K; Thomas, N S; Smith, E L; Gonda, P; Bass, P; Crolla, J A

    2006-01-01

    We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic examination, the fetus was found to have a male karyotype with 45 chromosomes with a dicentric chromosome, which appeared to consist of the long arms of chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ hybridization (FISH) unexpectedly showed that the derivative chromosome contained two interstitial blocks of chromosome 17 short arm sequences, totalling approximately 7 Mb, between the two centromeres. This effectively made the fetus monosomic for approximately 15 Mb of 17p without the concurrent trisomy for another chromosome normally seen following malsegregation of reciprocal translocations. It also illustrates the complexity involved in the formation of some structurally abnormal chromosomes, which can only be resolved by detailed molecular investigations.

  13. Creating the Multiple Personality: An Experiential Demonstration for an Undergraduate Abnormal Psychology Class.

    Science.gov (United States)

    Rabinowitz, Fredric E.

    1989-01-01

    Discusses a classroom role-playing exercise in which students and teacher re-enact interviewing techniques that cause subjects to assume characteristics of the multiple personality. Demonstrates the social psychological aspects of multiple personality disorder. Considers the pedagogical and ethical implications of creating the multiple personality…

  14. Creating the Multiple Personality: An Experiential Demonstration for an Undergraduate Abnormal Psychology Class.

    Science.gov (United States)

    Rabinowitz, Fredric E.

    1989-01-01

    Discusses a classroom role-playing exercise in which students and teacher re-enact interviewing techniques that cause subjects to assume characteristics of the multiple personality. Demonstrates the social psychological aspects of multiple personality disorder. Considers the pedagogical and ethical implications of creating the multiple personality…

  15. Multiple dental and skeletal abnormalities in an individual with filippi syndrome.

    Science.gov (United States)

    Sandhu, Meera; Malik, Pooja; Saha, Rooposhi

    2013-01-01

    Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to severe mental retardation. In addition, there is a mildly dysmorphic face along with ocular and a number of dental abnormalities. Radiologically, hands demonstrate bony syndactyly, without any hypoplasia of bones. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.

  16. Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome

    Directory of Open Access Journals (Sweden)

    Meera Sandhu

    2013-01-01

    Full Text Available Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to severe mental retardation. In addition, there is a mildly dysmorphic face along with ocular and a number of dental abnormalities. Radiologically, hands demonstrate bony syndactyly, without any hypoplasia of bones. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.

  17. Multiple abnormalities in permanent maxillary incisors following trauma to the primary dentition

    Directory of Open Access Journals (Sweden)

    Nitesh Tewari

    2011-01-01

    Full Text Available Diverse consequences to the trauma to primary dentition are sometimes difficult to explain. This report describes a rare case of sequelae to primary tooth trauma. The traumatic episode which occurred at the age of 3 years resulted in abnormally large crowns of 11 and 21 with yellowish-brown discoloration and enamel hyperplasia. It also led to dilaceration in the root of 21 and enamel hypoplasia with discoloration in 12 and 22.

  18. Abnormal radiological features in a multiple myeloma patient: a case report and radiological review of myelomas

    DEFF Research Database (Denmark)

    Ghosh, Sujoy; Wadhwa, P; A, Kumar

    2011-01-01

    Multiple myeloma is the prototype of malignant monoclonal gammopathies. The most common skeletal sites are pelvis, skull, spine, ribs and femoral and humeral shafts. The classic radiographic presentation of multiple myeloma is lytic skeletal lesions. Other types of presentation include sclerotic ...

  19. Abnormal radiological features in a multiple myeloma patient: a case report and radiological review of myelomas

    DEFF Research Database (Denmark)

    Ghosh, Sujoy; Wadhwa, P; A, Kumar;

    2011-01-01

    Multiple myeloma is the prototype of malignant monoclonal gammopathies. The most common skeletal sites are pelvis, skull, spine, ribs and femoral and humeral shafts. The classic radiographic presentation of multiple myeloma is lytic skeletal lesions. Other types of presentation include sclerotic ...

  20. Implication of sperm chromosomal abnormalities in recurrent abortion and multiple implantation failure.

    Science.gov (United States)

    Caseiro, Ana Lara; Regalo, Ana; Pereira, Elisa; Esteves, Telma; Fernandes, Fernando; Carvalho, Joaquim

    2015-10-01

    Currently, some infertility treatment centres provide sperm karyotype analysis, although the impact of sperm chromosomal abnormalities on fertility is not yet fully understood. Several studies using fluorescence in-situ hybridization (FISH) to analyse sperm chromosomal constitution discovered that the incidence of aneuploidy is increased in individuals with a history of repeated abortion or implantation failure and is even higher in cases of oligoasthenoteratozoospermia (OAT), abnormal somatic karyotype or in spermatozoa retrieved directly from the testis or epididymis, showing that the application of FISH in these cases may be of some benefit for improving the reproductive outcome. This article presents the results of clinical trials of FISH analysis on spermatozoa, the medical indications for performing this examination, its results in infertile patients and the advantages when performing genetic counselling prior to treatment. Also discussed is the possibility of applying the latest techniques of genetic analysis in these cases and the potential benefits for improving the prognosis of male infertility. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  1. Clinical significance of abnormal protein bands in multiple myeloma treated with bortezmib-based induction regimen and autologous stem cell transplantation

    Institute of Scientific and Technical Information of China (English)

    王荷花

    2013-01-01

    Objective To study the clinical significance of abnormal protein bands(APB)in multiple myeloma(MM) patients treated with bortezomib-based induction regimen and autologous stem cell transplantation(ASCT)

  2. Conditional calcineurin knockout mice exhibit multiple abnormal behaviors related to schizophrenia.

    Science.gov (United States)

    Miyakawa, Tsuyoshi; Leiter, Lorene M; Gerber, David J; Gainetdinov, Raul R; Sotnikova, Tatyana D; Zeng, Hongkui; Caron, Marc G; Tonegawa, Susumu

    2003-07-22

    Calcineurin (CN), a calcium- and calmodulin-dependent protein phosphatase, plays a significant role in the central nervous system. Previously, we reported that forebrain-specific CN knockout mice (CN mutant mice) have impaired working memory. To further analyze the behavioral effects of CN deficiency, we subjected CN mutant mice to a comprehensive behavioral test battery. Mutant mice showed increased locomotor activity, decreased social interaction, and impairments in prepulse inhibition and latent inhibition. In addition, CN mutant mice displayed an increased response to the locomotor stimulating effects of MK-801. Collectively, the abnormalities of CN mutant mice are strikingly similar to those described for schizophrenia. We propose that alterations affecting CN signaling could comprise a contributing factor in schizophrenia pathogenesis.

  3. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities.

    Science.gov (United States)

    Bellamkonda-Athmaram, V; Sulman, C G; Basel, D G; Southern, J; Konduri, G G; Basir, M A

    2014-04-01

    Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

  4. Abnormal ghrelin secretion contributes to gastrointestinal symptoms in multiple system atrophy patients

    OpenAIRE

    Ozawa, Tetsutaro; Tokunaga, Jun; Arakawa, Musashi; Ishikawa, Atsushi; Takeuchi, Ryoko; Mezaki, Naomi; Miura, Takeshi; Sakai, Naoko; Hokari, Mariko; Takeshima, Akari; Utsumi, Kota; Kondo, Takashi; Yokoseki, Akio; Nishizawa, Masatoyo

    2013-01-01

    Patients with multiple system atrophy (MSA) often have evidence of compromised gastrointestinal motility. Ghrelin is a gut hormone that influences gastrointestinal motility in humans. The aim of this study was to determine whether ghrelin secretion is affected in MSA patients, and to investigate the relation between ghrelin secretion and gastrointestinal symptoms. Plasma levels of active ghrelin and unacylated ghrelin were measured in patients with MSA (n = 30), other atypical parkinsonian di...

  5. Central neurological abnormalities and multiple chemical sensitivity caused by chronic toluene exposure.

    Science.gov (United States)

    Lee, Y-L; Pai, M-C; Chen, J-H; Guo, Y L

    2003-10-01

    Multiple chemical sensitivity (MCS) is a syndrome in which multiple symptoms occur with low-level chemical exposure; whether it is an organic disease initiated by environmental exposure or a psychological disorder is still controversial. We report a 38-year-old male worker with chronic toluene exposure who developed symptoms such as palpitation, insomnia, dizziness with headache, memory impairment, euphoria while working, and depression during the weekend. Upon cessation of exposure, follow-up neurobehavioural tests, including the cognitive ability screening instrument and the mini-mental state examination, gradually improved and eventually became normal. Although no further toluene exposure was noted, non-specific symptoms reappeared whenever the subject smelled automotive exhaust fumes or paint, or visited a petrol station, followed by anxiety with sleep disturbance. During hospitalization for a toluene provocation test, there was no difference between pre-challenge and post-challenge PaCO(2), PaO(2), SaO(2) or pulmonary function tests, except some elevation of pulse rate. The clinical manifestations suggested that MCS was more relevant to psychophysiological than pathophysiological factors.

  6. Abnormal Nerve Conduction Study Findings Indicating the Existence of Peripheral Neuropathy in Multiple Sclerosis and Neuromyelitis Optica

    Directory of Open Access Journals (Sweden)

    Yoko Warabi

    2013-01-01

    Full Text Available Objective. Chronic inflammatory demyelinating polyneuropathy (CIDP has been reported in patients with multiple sclerosis (MS. However, there have been limited reports of peripheral neuropathy as a complication of neuromyelitis optica (NMO. In this paper, we showed the characteristics and differences between peripheral neuropathy as a complication of MS and NMO. Method. We analyzed a series of 58 MS and 28 NMO patients and evaluated nerve conduction studies (NCS in 21 MS and 5 NMO patients. Results. Six of the 58 MS and 3 of the 28 NMO patients revealed abnormal NCS findings. Three (5.2% of the 58 MS patients fulfilled the criteria for CIDP. One (3.6% of the 28 NMO patients showed peripheral neuropathy at the same time of NMO relapse, although CIDP was not seen in NMO. The other 5 (3 MS and 2 NMO patients were complicated with neuropathy caused by concomitant diabetes mellitus and Sjögren’s syndrome. Conclusion. Frequency of abnormal NCS findings might exhibit no significant difference between MS and NMO, although the cause and pathophysiology of peripheral neuropathy were different in MS and in NMO. There might be a group of NMO who were affected simultaneously in the central and peripheral nervous tissues.

  7. Surgical Treatment of a Patient with Human Tail and Multiple Abnormalities of the Spinal Cord and Column

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    Chunquan Cai

    2011-01-01

    Full Text Available The dorsal cutaneous appendage, or so-called human tail, is often considered to be a cutaneous marker of underlying occult dysraphism. The authors present a case of human tail occurring in a 9-month-old infant with multiple abnormalities of the spinal cord and spine. Examination revealed unremarkable except for a caudal appendage and a dark pigmentation area in the low back. Neuroradiological scans revealed cleft vertebrae and bifid ribbon, split cord malformations, block vertebrae, and hemivertebra. Surgical excision of the tail and untethering the spinal cord by removal of the septum were performed. The infant had an uneventful postoperative period and was unchanged neurologically for 18 months of followup. To our knowledge, no similar case reports exist in the literature. The specific features in a rare case with a human tail treated surgically are discussed in light of the available literature.

  8. Evaluation of chromosomal abnormalities by cIg-FISH and association with proliferative and apoptotic indexes in multiple myeloma.

    Science.gov (United States)

    Linardi, C C G; Martinez, G; Velloso, E D R P; Leal, A M; Kumeda, C A; Buccheri, V; Azevedo, R S; Peliçario, L M; Dorlhiac-Llacer, P

    2012-11-01

    Eighty-six newly diagnosed multiple myeloma (MM) patients from a public hospital of São Paulo (Brazil) were evaluated by cIg-FISH for the presence of del(13)(q14), t(4;14)(p16.3;q32) and del(17)(p13). These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13)(q14) in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14)(p16.3;q32) and del(17)(p13) were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13)(q14) and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P = 0.06). On the other hand, no correlation between the proportion of cells carrying del(13)(q14) and apoptosis, determined by annexin-V staining, was detected (r = 0.05, P = 0.69). In general, patients carrying del(13)(q14) did not have lower survival than patients without del(13)(q14) (P = 0.15), but patients with more than 80% of cells carrying del(13)(q14) showed a lower overall survival (P = 0.033). These results suggest that, when del(13)(q14) is observed in a high proportion of malignant cells, it may have a role in determining MM prognosis. Another finding was a statistically significant lower overall survival of patients with t(4;14)(p16.3;q32) (P = 0.026). In the present study, almost half the patients with t(4;14)(p16.3;q32) died just after diagnosis, before starting treatment. This fact suggests that, in São Paulo, there may be even more patients with this chromosomal abnormality, but they probably die before being diagnosed due to unfavorable socioeconomic conditions. This could explain the low prevalence of this chromosomal abnormality observed in the present study.

  9. Evaluation of chromosomal abnormalities by cIg-FISH and association with proliferative and apoptotic indexes in multiple myeloma

    Directory of Open Access Journals (Sweden)

    C.C.G. Linardi

    2012-11-01

    Full Text Available Eighty-six newly diagnosed multiple myeloma (MM patients from a public hospital of São Paulo (Brazil were evaluated by cIg-FISH for the presence of del(13(q14, t(4;14(p16.3;q32 and del(17(p13. These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13(q14 in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14(p16.3;q32 and del(17(p13 were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13(q14 and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P = 0.06. On the other hand, no correlation between the proportion of cells carrying del(13(q14 and apoptosis, determined by annexin-V staining, was detected (r = 0.05, P = 0.69. In general, patients carrying del(13(q14 did not have lower survival than patients without del(13(q14 (P = 0.15, but patients with more than 80% of cells carrying del(13(q14 showed a lower overall survival (P = 0.033. These results suggest that, when del(13(q14 is observed in a high proportion of malignant cells, it may have a role in determining MM prognosis. Another finding was a statistically significant lower overall survival of patients with t(4;14(p16.3;q32 (P = 0.026. In the present study, almost half the patients with t(4;14(p16.3;q32 died just after diagnosis, before starting treatment. This fact suggests that, in São Paulo, there may be even more patients with this chromosomal abnormality, but they probably die before being diagnosed due to unfavorable socioeconomic conditions. This could explain the low prevalence of this chromosomal abnormality observed in the present study.

  10. Evaluation of chromosomal abnormalities by clg-FISH and association with proliferative and apoptotic indexes in multiple myeloma

    Energy Technology Data Exchange (ETDEWEB)

    Linardi, C.C.G.; Martinez, G.; Velloso, E.D.R.P.; Leal, A.M.; Kumeda, C.A.; Buccheri, V. [Disciplina de Hematologia e Hemoterapia, Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Azevedo, R.S. [Departamento de Patologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Peliçario, L.M.; Dorlhiac-Llacer, P. [Disciplina de Hematologia e Hemoterapia, Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2012-08-24

    Eighty-six newly diagnosed multiple myeloma (MM) patients from a public hospital of São Paulo (Brazil) were evaluated by cIg-FISH for the presence of del(13)(q14), t(4;14)(p16.3;q32) and del(17)(p13). These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13)(q14) in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14)(p16.3;q32) and del(17)(p13) were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13)(q14) and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P = 0.06). On the other hand, no correlation between the proportion of cells carrying del(13)(q14) and apoptosis, determined by annexin-V staining, was detected (r = 0.05, P = 0.69). In general, patients carrying del(13)(q14) did not have lower survival than patients without del(13)(q14) (P = 0.15), but patients with more than 80% of cells carrying del(13)(q14) showed a lower overall survival (P = 0.033). These results suggest that, when del(13)(q14) is observed in a high proportion of malignant cells, it may have a role in determining MM prognosis. Another finding was a statistically significant lower overall survival of patients with t(4;14)(p16.3;q32) (P = 0.026). In the present study, almost half the patients with t(4;14)(p16.3;q32) died just after diagnosis, before starting treatment. This fact suggests that, in São Paulo, there may be even more patients with this chromosomal abnormality, but they probably die before being diagnosed due to unfavorable socioeconomic conditions. This could explain the low prevalence of this chromosomal abnormality observed in the present study.

  11. Abnormal IGF-Binding Protein Profile in the Bone Marrow of Multiple Myeloma Patients.

    Directory of Open Access Journals (Sweden)

    Liesbeth Bieghs

    Full Text Available Insulin-like growth factor (IGF signalling plays a key role in homing, progression, and treatment resistance in multiple myeloma (MM. In the extracellular environment, the majority of IGF molecules are bound to one of six IGF-binding proteins (IGFBP1-6, leaving a minor fraction of total IGF free and accessible for receptor activation. In MM, high IGF-receptor type 1 expression levels correlate with a poor prognosis, but the status and role of IGF and IGFBPs in the pathobiology of MM is unknown. Here we measured total IGF1, IGF2, and intact IGFBP levels in blood and bone marrow samples from MM (n = 17, monoclonal gammopathy of undetermined significance (MGUS (n = 37, and control individuals (n = 15, using ELISA (IGFs and 125I-IGF1 Western Ligand Blotting (IGFBPs. MGUS and MM patients displayed a significant increase in intact IGFBP-2 (2.5-3.8 fold and decrease in intact IGFBP-3 (0.6-0.5 fold in the circulation compared to control individuals. Further, IGFBP-2 as well as total IGFBP levels were significantly lower in bone marrow compared to circulation in MM and MGUS only, whereas IGF1, IGF2, and IGFBP-3 were equally distributed between the two compartments. In conclusion, the profound change in IGFBP profile strongly suggests an increased IGF bioavailability in the bone marrow microenvironment in MGUS and MM, despite no change in growth factor concentration.

  12. Abnormal ghrelin secretion contributes to gastrointestinal symptoms in multiple system atrophy patients.

    Science.gov (United States)

    Ozawa, Tetsutaro; Tokunaga, Jun; Arakawa, Musashi; Ishikawa, Atsushi; Takeuchi, Ryoko; Mezaki, Naomi; Miura, Takeshi; Sakai, Naoko; Hokari, Mariko; Takeshima, Akari; Utsumi, Kota; Kondo, Takashi; Yokoseki, Akio; Nishizawa, Masatoyo

    2013-08-01

    Patients with multiple system atrophy (MSA) often have evidence of compromised gastrointestinal motility. Ghrelin is a gut hormone that influences gastrointestinal motility in humans. The aim of this study was to determine whether ghrelin secretion is affected in MSA patients, and to investigate the relation between ghrelin secretion and gastrointestinal symptoms. Plasma levels of active ghrelin and unacylated ghrelin were measured in patients with MSA (n = 30), other atypical parkinsonian disorders including progressive supranuclear palsy-Richardson syndrome and corticobasal syndrome (n = 24), and control subjects (n = 24) using enzyme-linked immunosorbent assays. Gastrointestinal symptoms were quantified in all subjects using a self-report questionnaire. The ratio of active ghrelin to total ghrelin in the plasma (active ghrelin ratio) was lower in patients with MSA (mean: 8.0 %) than in patients with other atypical parkinsonian disorders (mean: 13.7 %, P = 0.001) and control subjects (mean: 13.9 %, P = 0.001). The active ghrelin ratio was correlated with the severity of gastrointestinal symptoms in MSA (r = -0.5, P = 0.004). Our observations indicate that ghrelin secretion is affected in patients with MSA. The low active ghrelin ratio may contribute to gastrointestinal symptoms in MSA.

  13. Extracranial Venous abnormalities: A true pathological finding in patients with multiple sclerosis or an anatomical variant?

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    Torres, Carlos; Chakraborty, Santanu; Nguyen, Thanh; Thornhill, Rebecca; Lum, Cheemun [University of Ottawa, Department of Radiology, Ottawa, ON (Canada); The Ottawa Hospital, Department of Medical Imaging, Ottawa, ON (Canada); Ottawa Hospital Research Institute OHRI, Ottawa, ON (Canada); Hogan, Matthew; Freedman, Mark [Ottawa Hospital Research Institute OHRI, Ottawa, ON (Canada); University of Ottawa, Department of Medicine, Ottawa, ON (Canada); The Ottawa Hospital, Division of Neurology, Ottawa, ON (Canada); Patro, Satya [University of Ottawa, Department of Radiology, Ottawa, ON (Canada); The Ottawa Hospital, Department of Medical Imaging, Ottawa, ON (Canada); Bussiere, Miguel [University of Alberta, Department of Medicine, Division of Neurology, Edmonton (Canada); Dabirzadeh, Hamid [University of Saskatchewan, Neuroradiologist, Department of Radiology, Saskatoon (Canada); Schwarz, Betty Anne; Belanger, Stefanie; Legault-Kingstone, Lysa [The Ottawa Hospital, Department of Medical Imaging, Ottawa, ON (Canada); Schweitzer, Mark [Stony Brook School of Medicine, Department of Radiology, Stony Brook, NY (United States)

    2017-01-15

    To evaluate the extracranial venous anatomy with contrast-enhanced MR venogram (CE-MRV) in patients without multiple sclerosis (MS), and assess the prevalence of various venous anomalies such as asymmetry and stenosis in this population. We prospectively recruited 100 patients without MS, aged 18-60 years, referred for contrast-enhanced MRI. They underwent additional CE-MRV from skull base to mediastinum on a 3T scanner. Exclusion criteria included prior neck radiation, neck surgery, neck/mediastinal masses or significant cardiac or pulmonary disease. Two neuroradiologists independently evaluated the studies to document asymmetry and stenosis in the jugular veins and prominence of collateral veins. Asymmetry of internal jugular veins (IJVs) was found in 75 % of subjects. Both observers found stenosis in the IJVs with fair agreement. Most stenoses were located in the upper IJV segments. Asymmetrical vertebral veins and prominence of extracranial collateral veins, in particular the external jugular veins, was not uncommon. It is common to have stenoses and asymmetry of the IJVs as well as prominence of the collateral veins of the neck in patients without MS. These findings are in contrast to prior reports suggesting collateral venous drainage is rare except in MS patients. (orig.)

  14. Abnormal cardiac [(123)I]-meta-iodobenzylguanidine uptake in multiple system atrophy.

    Science.gov (United States)

    Nagayama, Hiroshi; Ueda, Masayuki; Yamazaki, Mineo; Nishiyama, Yasuhiro; Hamamoto, Makoto; Katayama, Yasuo

    2010-08-15

    [(123)I]-Meta-iodobenzylguanidine (MIBG) myocardial scintigraphy is useful for distinguishing multiple system atrophy (MSA) from Parkinson disease. In this study, longitudinal observation using MIBG myocardial scintigraphy was carried out in patients with MSA to evaluate the association of myocardial MIBG uptake with clinical features. A total of 96 MIBG examinations were performed in 52 patients with MSA. The heart/mediastinum (H/M) ratio of MIBG uptake at 240 minutes after injection was below the lower limit in 16 patients with MSA (31.3%). Overall, the H/M ratio correlated with neither disease duration nor severity. In the follow-up observations, the H/M ratio did not show any specific trends, in contrast with the continuous decrease observed in patients with Parkinson's disease. This data clearly showed that cardiac MIBG uptake cannot necessarily be preserved in patients with MSA and that approximately 30% of patients with MSA showed decreased MIBG uptake without any correlation to disease duration or severity.

  15. Quantitative MRI Demonstrates Abnormality of the Fornix and Cingulum in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Stephanie B. Syc

    2013-01-01

    Full Text Available Objective. To characterize MR signal changes associated with tissue damage in the fornix and cingulum in multiple sclerosis (MS using quantitative MRI measures and to determine associations with cognitive dysfunction. Background. The fornix and cingulum are white-matter bundles that carry information related to cognition. While cognitive dysfunction is reported in 40–60% of MS patients, the neuroanatomical correlates of cognitive impairment remain incompletely understood. Methods. The cingulum, pillars of the fornix, and corticospinal tract were segmented by fiber tracking via diffusion tensor imaging. Average tract-specific fractional anisotropy (FA, mean diffusivity (MD, and magnetization transfer ratio (MTR were compared in MS cases and healthy volunteers. Associations with clinical measures and neuropsychological tests were derived by multivariate linear regression. Results. Fornix FA (P=0.004 and MTR (P=0.005 were decreased, and fornix MD (P<0.001 and cingulum MD (P<0.001 increased, in MS cases (n=101 relative to healthy volunteers (n=16 after adjustment for age and sex. Lower fornix FA and MTR, and higher fornix MD and λ∥, were correlated with lower PASAT-3 scores, but not with slower 25FTW times. Lower PASAT-3 scores were associated with lower cingulum FA and higher MD and λ⊥. Conclusions. Cognitive dysfunction in MS may involve damage to a widespread network of brain structures, including white-matter pathways within the limbic system.

  16. Investigation of magnetization transfer ratio-derived pial and subpial abnormalities in the multiple sclerosis spinal cord.

    Science.gov (United States)

    Kearney, Hugh; Yiannakas, Marios C; Samson, Rebecca S; Wheeler-Kingshott, Claudia A M; Ciccarelli, Olga; Miller, David H

    2014-09-01

    multivariate regression analysis an independent association was seen between outer cord magnetization transfer ratio and cord atrophy (coefficient = 0.40, P < 0.01). Our in vivo imaging observations suggest that abnormalities in a region involving the pia mater and subpial cord occur early in the course of multiple sclerosis and are more marked in those with a progressive course.

  17. Genome-Wide Screening of Cytogenetic Abnormalities in Multiple Myeloma Patients Using Array-CGH Technique: A Czech Multicenter Experience

    Directory of Open Access Journals (Sweden)

    Jan Smetana

    2014-01-01

    Full Text Available Characteristic recurrent copy number aberrations (CNAs play a key role in multiple myeloma (MM pathogenesis and have important prognostic significance for MM patients. Array-based comparative genomic hybridization (aCGH provides a powerful tool for genome-wide classification of CNAs and thus should be implemented into MM routine diagnostics. We demonstrate the possibility of effective utilization of oligonucleotide-based aCGH in 91 MM patients. Chromosomal aberrations associated with effect on the prognosis of MM were initially evaluated by I-FISH and were found in 93.4% (85/91. Incidence of hyperdiploidy was 49.5% (45/91; del(13(q14 was detected in 57.1% (52/91; gain(1(q21 occurred in 58.2% (53/91; del(17(p13 was observed in 15.4% (14/91; and t(4;14(p16;q32 was found in 18.6% (16/86. Genome-wide screening using Agilent 44K aCGH microarrays revealed copy number alterations in 100% (91/91. Most common deletions were found at 13q (58.9%, 1p (39.6%, and 8p (31.1%, whereas gain of whole 1q was the most often duplicated region (50.6%. Furthermore, frequent homozygous deletions of genes playing important role in myeloma biology such as TRAF3, BIRC1/BIRC2, RB1, or CDKN2C were observed. Taken together, we demonstrated the utilization of aCGH technique in clinical diagnostics as powerful tool for identification of unbalanced genomic abnormalities with prognostic significance for MM patients.

  18. Distribution of maternal age and birth order groups in cases with unclassified multiple congenital abnormalities according to the number of component abnormalities: a national population-based case-control study.

    Science.gov (United States)

    Csermely, Gyula; Czeizel, Andrew E; Veszprémi, Béla

    2015-02-01

    Multiple congenital abnormalities are caused by chromosomal aberrations, mutant major genes and teratogens. A minor proportion of these patients are identified as syndromes but the major part belonging to the group of unclassified multiple CAs (UMCAs). The main objective of this study was to evaluate the maternal age and birth order in pregnant women who had offspring affected with UMCA. The strong association between numerical chromosomal aberrations, e.g., Down syndrome and advanced maternal age is well-known and tested here. The Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980 to 1996, yielded a large population-based national data set with 22,843 malformed newborns or fetuses ("informative cases") included 1349 UMCA cases with their 2407 matched controls. Case-control comparison of maternal age and birth order was made for cases with UMCA, stratified by component numbers and their controls. In addition, 834 cases with Down syndrome were compared to 1432 matched controls. The well-known advanced maternal age with the higher risk for Down syndrome was confirmed. The findings of the study suggest that the young age of mothers associates with the higher risk of UMCA, in addition birth order 4 or more associates with the higher risk for UMCA with 2 and 3 component CAs. This study was the first to analyze the possible maternal and birth order effect for cases with UMCA, and the young age and higher birth order associated with a higher risk for UMCA. © 2014 Wiley Periodicals, Inc.

  19. Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma.

    Science.gov (United States)

    Wu, Ka Lung; Beverloo, Berna; Lokhorst, Henk M; Segeren, Christine M; van der Holt, Bronno; Steijaert, Monique M; Westveer, Petra H; Poddighe, Pino J; Verhoef, Gregor E; Sonneveld, Pieter

    2007-02-01

    The prognostic value of chromosomal abnormalities was studied in untreated multiple myeloma patients who were registered into a prospective randomised multicentre phase 3 study for intensified treatment (HOVON24). A total of 453 patients aged less than 66 years with stage II and III A/B disease were registered in the clinical study. Cytogenetic analysis was introduced as a standard diagnostic assay in 1998. It was performed at diagnosis in 160 patients and was successful in 137/160 patients (86%). An abnormal karyotype was observed in 53/137 (39%) of the patients. Abnormalities of chromosome 1p and 1q were found in 19 (36% of patients with an abnormal karyotype) and 21 patients (40%). There was a strong association between chromosome 1p and/or 1q abnormalities and deletion of chromosome 13 or 13q (n = 27, P < 0.001). Patients with karyotypic abnormalities had a significantly shorter overall survival (OS) than patients with normal karyotypes. Complex abnormalities, hypodiploidy, chromosome 1p abnormalities, chromosome 1q abnormalities, and chromosome 13 abnormalities were associated with inferior OS on univariate analysis, as well as after adjustment for other prognostic factors. In conclusion, chromosome 13 abnormalities and chromosome 1p and/or 1q abnormalities were highly associated, and are risk factors for poor outcome after intensive therapy in multiple myeloma.

  20. Association of Chromosomal Abnormalities and Fetus with Multiple Malformations%胎儿多发畸形与染色体异常的相关性分析

    Institute of Scientific and Technical Information of China (English)

    谢英俊; 方群; 吴坚柱; 陈宝江; 陈健生; 陈筠虹; 陈争

    2011-01-01

    [目的]探讨多发畸形胎儿的产前诊断特征及其与染色体异常的关系.[方法]对853例产前诊断胎儿进行研究,根据超声检测检出多发畸形与否,分为多发畸形组(n=103)及非畸形组(对照组,n=750),行常规染色体核型分析;收集相关临床资料:分析胎儿畸形超声发现时期、畸形类别、畸形数目、染色体异常率和异常类型以及染色体异常与多发畸形的相关性.[结果]两组胎儿比较,染色体异常率(多发畸形组43.69%,对照组0.93%),性别比(多发畸形组1.94,对照组0.97),产前诊断孕周[多发畸形组(25±5)周,对照组(21±4)周],差异均有统计学意义(P<0.05).超声发现胎儿畸形数目越多,胎儿染色体异常的风险越大(r=0.792,P=0.017).多变量统计学分析的结果提示超声检出胎儿的面颈部异常(OR=7.748,P=0.000)、心血管系统异常(OR=5.064,P=0.002)、泌尿系统畸形(OR=0.195,P=0.005)、单脐动脉(OR=4.608,P=0.020)与多发畸形胎儿的染色体异常相关.[结论]多发畸形胎儿染色体异常率高;在超声对多发畸形胎儿检测中,胎儿的面颈部异常、心血管系统异常、单脐动脉可能可以作为胎儿染色体异常的预测指标.%[Objective] To investigate the multiple characteristics of fetal malformation in prenatal diagnosis and its relationship with chromosomal abnormalities. [Methods] A total of 853 cases were divided into multiple malformations group (n = 103) and nonmalformation group (control group,n = 750) according to ultrasound detected multiple malformations or not. Collecting clinical data:the discovery of fetal malformations time, the number of deformities, the abnormal types and rates of chromosome abnormalities and outcomes of karyotypes associated malformations. [ Results ] Comparing the results of two groups, the fetal chromosomal abnormality rate (multiple malformations group 43.69%, 0.93% in control group), the sex ratio (multiple malformations group 1

  1. Successful intracytoplasmic sperm injection with testicular spermatozoa from a man with multiple morphological abnormalities of the sperm flagella: a case report.

    Science.gov (United States)

    Yang, Shenmin; Gao, Liang; Wang, Wei; Ding, Jie; Xu, Yongle; Li, Hong

    2017-10-02

    The purpose of this study is to analyze the sperm morphology of a Chinese man affected with multiple morphological abnormalities of the sperm flagella (MMAF) and observe the intracytoplasmic sperm injection (ICSI) outcome. A Chinese man was diagnosed with multiple morphological abnormalities of the sperm flagella by semen analysis and electron microscopy. Testicular spermatozoa were injected intracytoplasmically, and the following ICSI results were observed. All the spermatozoa from his ejaculate were immotile and morphologically abnormal in the flagellum. In transmission electron microscopy assays, most spermatozoa showed disorganized fibrous sheath, accompanied by distortion of various cytoskeletal components, and missing of the central pair microtubules. Testicular sperm was injected to the oocytes in two ICSI cycles, with fertilization rates of 45.5 and 40.0%. Finally, a healthy female infant was delivered at the second ICSI cycle. Fertilization and pregnancy could be achieved by intracytoplasmic sperm injection, regardless of severe flagellar defects. ICSI is effective for MMAF-affected man, and testicular sperm is an alternative when no motile sperm is available.

  2. Diffusion tensor magnetic resonance imaging may show abnormalities in the normal-appearing cervical spinal cord from patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Fernanda Miraldi

    2013-09-01

    Full Text Available Objective This study aims to evaluate “in vivo” the integrity of the normal-appearing spinal cord (NASC in patients with multiple sclerosis (MS compared to controls, using diffusion tensor MR imaging. Methods We studied 32 patients with MS and 17 without any neurologic disorder. Fractional anisotropy (FA, axial diffusivity (AD, radial diffusivity (RD and mean diffusivity (MD were calculated within regions of interest at C2 and C7 levels in the four columns of the spinal cord. Results At C2, FA value was decreased in MS patients. Besides, RD value was higher in MS than in controls. At C7, MD values were increased in MS. Conclusion The NASC in the right column of the cervical spinal cord showed abnormal FA, RD and MD values, which is possibly related to demyelination, since the FA abnormality was related to the RD and not to the AD.

  3. Prevalence of High-Risk Human Papillomavirus (HR-HPV) Genotypes and Multiple Infections in Cervical Abnormalities from Northern Xinjiang, China.

    Science.gov (United States)

    Wang, Lina; Wang, Pengyan; Ren, Yan; Du, Jingyun; Jiang, Jianjun; Jia, Xuesong; Chen, Chuangfu; Wang, Yuanzhi

    2016-01-01

    Multiple human papillomavirus (HPV) genotypes often coexist within the cervical epithelia and are frequently detected together in various grades of the cervical neoplasia. To date, only a few reports exist on multiple HPV infections of HPV in Xinjiang Uygur Autonomous Region (XUAR). In the present study, we investigated the prevalence of High-Risk HPV (HR-HPV) genotypes and multiple infections. Cervical cytology samples were collected from 428 women who presented cervical abnormalities. Genotyping of HPV was performed by polymerase chain reaction-sequencing based typing (PCR-SBT) using consensus primers and specific primers. Of them, 166 samples were positive for HPV according to PCR results using the consensus primers. These samples contained cervical abnormalities enriched with inflammation (n = 107), cervical intraepithelial neoplasia (CIN) I (n = 19), CINII-III (n = 9) and cervical cancer (n = 31). Of the 166 HPV positive samples as determined by PCR analysis, 151 were further typed by PCR-SBT using 19 pairs of genotype-specific primers. Using this method, 17 different HR-HPV genotypes were identified. The most frequently observed HPV genotypes were HPV16 (44.0%, 73/166), 53 (28.9%, 48/166), 52 (25.3%, 42/166), 58 (22.3%, 37/166) and 35 (17.5%, 29/166). The proportions of single and multiple infections in the HPV-positive specimens were 34.9% and 65.1%, respectively. Multiple HPV types were most prevalent in the inflammatory state (63.0%), followed by cervical cancer (24.1%), CINI (11.1%), and CINII-III (1.9%). The results of our data analyses suggested that i) multiple HPV infection is not necessarily correlated with the severity of cervical abnormalities; and ii) among the multiple HPV infections, double infections combined with HPV16 is the most common. In addition, L1 full-length sequences of the top five high-risk HPV genotypes were amplified and sequenced. According to the L1 sequence of the epidemic genotypes that were amplified, we found that these

  4. An unusual case of multiple aortic abnormalities: total occlusion of aortic arch, left external iliac artery, and bicuspid aortic valve in a 21-year-old man.

    Science.gov (United States)

    Tanindi, Asli; Tavil, Yusuf; Mutluay, Ruya; Taktak, Hacer; Cengel, Atiye

    2007-03-01

    An unusual case of total occlusion of aorta just distal to the left subclavian artery, bicuspid aortic valve, and occluded left external iliac artery in a 21-year-old man who was admitted with headache and severe hypertension is presented. We wish to report this case because so far there have been none reported with such multiple aortic abnormalities, although several documented cases of isolated total occlusion of aorta exist. Our patient underwent a successful surgical correction, i.e., patch plasty to the coarcted segment and end to side - end to side aortal-aortal bypass with Dacron graft.

  5. Abnormal electromyography in patients with multiple sclerosis: analysis of 10 cases%多发性硬化伴肌电图异常10例

    Institute of Scientific and Technical Information of China (English)

    刘明生; 肖岩; 崔丽英

    2011-01-01

    Objective To investigate the features of abnormal electromyography (EMG) in patients with multiple sclerosis (MS).Methods Sixty-nine patients with MS were retrospectively collected.Sensory nerve conduction, motor nerve conduction, F-wave and concentric needle EMG were investigated in all patients.The features of abnormal EMG and clinical manifestation were analyzed.Results Abnormal EMG was detected in 10 of 69 patients with MS.Motor and/or sensory nerve conduction was abnormal in 22.2 % (12/54) nerves, F wave was abnormal in 12.5% (2/16) nerves, concentric needle EMG was abnormal in 13.8% (8/58) muscles.Decreased amplitude of sensory nerve action potentials in one to two nerves was found in 4 out of 10 patients and the amplitude was invisible in serious ones.Amplitude of compound muscle action potential decreased in one to two nerves in 3 patients.Distal motor latency prolonged and sensory conduction velocity decreased in posterior tibial nerves in 1 patient.F-wave was abnormal in bilateral median nerve in 1 patient.Abnormal concentric needle EMG in one limb was detected in 4 patients.Conclusions Abnormal EMG in MS is characterized by axonal loss in one or more peripheral nerves or spinal nerve roots, which is hard to explain by the same pathogenesis of MS.%目的 分析多发性硬化(MS)伴有周围神经病变时的肌电图改变特点.方法 共对69例MS进行了系统的肌电图测定,测定内容包括感觉神经传导、运动神经传导、F波和同芯针电极肌电图,并对测定结果结合临床进行分析.结果 69例MS患者中10例存在肌电图异常.在所测定的神经中,22.2%(12/54)存在运动和/或感觉传导异常,12.5%(2/16)F波异常;13.8%(8/58)肌肉存在神经源性损害的表现.10例中4例患者分别存在1~2根神经的感觉神经传导波幅下降,严重者甚至引不出波形;3例患者存在1~2根神经的运动传导复合肌肉动作电位波幅下降;1例存在胫后神经

  6. Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation-a rare case from South India

    Institute of Scientific and Technical Information of China (English)

    Sangeetha Vijay; Santhi Sarojam; Sureshkumar Raveendran; Vani Syamala; Sreeja Leelakumari; Geetha Narayanan; Sreedharan Hariharan

    2012-01-01

    Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder.The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia.Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML),which is a disease with Philadelphia (Ph) chromosome as the major abnormality.In the present study,we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4),which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities.Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes.Ring chromosome,tetraploid endoreduplication,recurrent aneuploid clones with loss of X chromosome,monosomy 17,monosomy 7,and structural variation translocation (9;14) were also observed in this patient.Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome.This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.

  7. Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.

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    Seok-Hyung Kim

    2013-06-01

    Full Text Available Multiple Acyl-CoA Dehydrogenase Deficiency (MADD is a severe mitochondrial disorder featuring multi-organ dysfunction. Mutations in either the ETFA, ETFB, and ETFDH genes can cause MADD but very little is known about disease specific mechanisms due to a paucity of animal models. We report a novel zebrafish mutant dark xavier (dxa(vu463 that has an inactivating mutation in the etfa gene. dxa(vu463 recapitulates numerous pathological and biochemical features seen in patients with MADD including brain, liver, and kidney disease. Similar to children with MADD, homozygote mutant dxa(vu463 zebrafish have a spectrum of phenotypes ranging from moderate to severe. Interestingly, excessive maternal feeding significantly exacerbated the phenotype. Homozygous mutant dxa(vu463 zebrafish have swollen and hyperplastic neural progenitor cells, hepatocytes and kidney tubule cells as well as elevations in triacylglycerol, cerebroside sulfate and cholesterol levels. Their mitochondria were also greatly enlarged, lacked normal cristae, and were dysfunctional. We also found increased signaling of the mechanistic target of rapamycin complex 1 (mTORC1 with enlarged cell size and proliferation. Treatment with rapamycin partially reversed these abnormalities. Our results indicate that etfa gene function is remarkably conserved in zebrafish as compared to humans with highly similar pathological, biochemical abnormalities to those reported in children with MADD. Altered mTORC1 signaling and maternal nutritional status may play critical roles in MADD disease progression and suggest novel treatment approaches that may ameliorate disease severity.

  8. Indoleamine 2,3-dioxygenase 1 (IDO1 activity correlates with immune system abnormalities in multiple myeloma

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    Bonanno Giuseppina

    2012-12-01

    Full Text Available Abstract Background Multiple myeloma (MM is a plasma cell malignancy with a multifaceted immune dysfunction. Indoleamine 2,3-dioxygenase 1 (IDO1 degrades tryptophan into kynurenine (KYN, which inhibits effector T cells and promote regulatory T-cell (Treg differentiation. It is presently unknown whether MM cells express IDO1 and whether IDO1 activity correlates with immune system impairment. Methods We investigated IDO1 expression in 25 consecutive patients with symptomatic MM and in 7 patients with either monoclonal gammopathy of unknown significance (MGUS; n=3 or smoldering MM (SMM; n=4. IDO1-driven tryptophan breakdown was correlated with the release of hepatocyte growth factor (HGF and with the frequency of Treg cells and NY-ESO-1-specific CD8+ T cells. Results KYN was increased in 75% of patients with symptomatic MM and correlated with the expansion of CD4+CD25+FoxP3+ Treg cells and the contraction of NY-ESO-1-specific CD8+ T cells. In vitro, primary MM cells promoted the differentiation of allogeneic CD4+ T cells into bona fide CD4+CD25hiFoxP3hi Treg cells and suppressed IFN-γ/IL-2 secretion, while preserving IL-4 and IL-10 production. Both Treg expansion and inhibition of Th1 differentiation by MM cells were reverted, at least in part, by d,l-1-methyl-tryptophan, a chemical inhibitor of IDO. Notably, HGF levels were higher within the BM microenvironment of patients with IDO+ myeloma disease compared with patients having IDO- MM. Mechanistically, the antagonism of MET receptor for HGF with SU11274, a MET inhibitor, prevented HGF-induced AKT phosphorylation in MM cells and translated into reduced IDO protein levels and functional activity. Conclusions These data suggest that IDO1 expression may contribute to immune suppression in patients with MM and possibly other HGF-producing cancers.

  9. Meiotic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  10. Multiple human papillomavirus infection with or without type 16 and risk of cervical intraepithelial neoplasia among women with cervical cytological abnormalities.

    Science.gov (United States)

    Spinillo, Arsenio; Gardella, Barbara; Roccio, Marianna; Alberizzi, Paola; Cesari, Stefania; Patrizia, Morbini; Silini, Enrico

    2014-12-01

    To evaluate the impact of multiple human papillomavirus (HPV) infections on the risk of cervical intraepithelial neoplasia grade 3 or worse (CIN3+) in subjects with cervical cytological abnormalities. A cross-sectional study of 3,842 women attending a colposcopy service was carried out. Genotyping of 18 high-risk, seven low-risk, and two undefined-risk HPVs was carried out by the INNO-LiPA genotyping system. The final colposcopic/pathological diagnoses were as follows: 1,933 (50.3 %) subjects were negative; 1,041 (27.1 %) CIN1; 280 (7.3 %) CIN2; 520 (13.5 %) CIN3; and 68 (1.8 %) invasive cervical cancer. The prevalence of HPV infection was 75.8 % (2,911/3,842), whereas multiple HPVs were detected in 34.5 % of HPV-positive subjects (2,255/3,842). The adjusted risks of CIN3+ in the group with multiple compared to the group with single infection were 2.31 (95 % CI = 1.54-3.47), among HPV16-positive women, and 3.25 (95 % CI = 2.29-4.61, p = 0.21 compared with HPV16-positive subjects), in HPV16-negative subjects. Out of a total of 1,285 subjects with mild lesions, followed up for a median of 16.1 months (interquartile range = 8.9-36.8), the rate of progression to CIN2-3 was 0.6 % (5/541) among subjects negative or with low-risk HPVs, 1.7 % (8/463) among those with single high-risk HPV, and 5 % (14/281, p infection by multiple high-risk HPVs increased the risk of CIN3+ in both HPV16-positive and HPV16-negative subjects. These findings suggest a potential synergistic interaction between high-risk HPVs, favoring the progression of CIN lesions.

  11. Progress of signaling pathways abnormal in multiple sclerosis%多发性硬化症信号传导通路异常研究进展

    Institute of Scientific and Technical Information of China (English)

    郑娜; 王奇; 尹琳琳

    2015-01-01

    The pathogenesis of multiple sclerosis ( MS) involves alterations to multiple pathways and processes, which represent a significant challenge for developing more-effective therapies.In MS, abnormalities have been identified in several cytokine-signaling pathways, as well as those of other immune receptors.Among the downstream molecules implicated are Jak/Stat, NF-κb, ERK1/2, p38 or Jun/Fos, current MS drugs target some of these pathways.This article will with the aid of the latest research results of systems biology approaches that study pathway dysregulation in the process of MS development, targeting these relevant MS-signaling pathways, offers the opportunity to accelerate the development of novel individual or combination therapies for the future of new drug research.%多发性硬化症的病因涉及多种信号传导途径改变,这就为我们研发更加有效的治疗药物提出了更大挑战。已知在多发性硬化症中多种细胞因子及其受体信号传导异常,根据其下游效应分子不同分为:Jak/Stat, NF-κB, ERK1/2, p38 or Jun/Fos通路等。目前仅有部分多发性硬化症治疗药物靶向上述信号通路,本文将综述系统生物学最新研究成果分别阐述多发性硬化症发生发展过程中信号通路的异常,为今后靶向上述通路的新药研发提供个体化或复合型治疗策略。

  12. Signal abnormalities on 1.5 and 3 Tesla brain MRI in multiple sclerosis patients and healthy controls. A morphological and spatial quantitative comparison study.

    Science.gov (United States)

    Di Perri, Carol; Dwyer, Michael G; Wack, David S; Cox, Jennifer L; Hashmi, Komal; Saluste, Erik; Hussein, Sara; Schirda, Claudiu; Stosic, Milena; Durfee, Jacqueline; Poloni, Guy U; Nayyar, Navdeep; Bergamaschi, Roberto; Zivadinov, Robert

    2009-10-01

    Previous studies in patients with multiple sclerosis (MS) revealed increased lesion count and volume on 3 T compared to 1.5 T. Morphological and spatial lesion characteristics between 1.5 T and 3 T have not been examined. The aim of this study was to investigate the effect of changing from a 1.5 T to a 3 T MRI scanner on the number, volume and spatial distribution of signal abnormalities (SA) on brain MRI in a sample of MS patients and normal controls (NC), using pair- and voxel-wise comparison procedures. Forty-one (41) MS patients (32 relapsing-remitting and 9 secondary-progressive) and 38 NC were examined on both 1.5 T and 3 T within one week in random order. T2-weighted hyperintensities (T2H) and T1-weighted hypointensities (T1H) were outlined semiautomatically by two operators in a blinded fashion on 1.5 T and 3 T images. Spatial lesion distribution was assessed using T2 and T1 voxel-wise SA probability maps (SAPM). Pair-wise analysis examined the proportion of SA not simultaneously outlined on 1.5 T and 3 T. A posteriori unblinded analysis was conducted to examine the non-overlapping identifications of SA between the 1.5 T and 3 T. For pair-wise T2- and T1-analyses, a higher number and individual volume of SA were detected on 3 T compared to 1.5 T (pmap (SAPM) analysis revealed significantly more regionally distinct spatial SA differences on 3 T compared to 1.5 T in both groups (pmorphological and spatial differences between data acquired using 1.5 T and 3 T protocols at the two scanner field strengths.

  13. Leukocyte abnormalities.

    Science.gov (United States)

    Gabig, T G

    1980-07-01

    Certain qualitative abnormalities in neutrophils and blood monocytes are associated with frequent, severe, and recurrent bacterial infections leading to fatal sepsis, while other qualitative defects demonstrated in vitro may have few or no clinical sequelae. These qualitative defects are discussed in terms of the specific functions of locomotion, phagocytosis, degranulation, and bacterial killing.

  14. Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

    Directory of Open Access Journals (Sweden)

    Jonathon Blake

    Full Text Available Balanced chromosome abnormalities (BCAs occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14 that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and derivative chromosomes confirmed the clinically undetected BCA. Moreover, deep sequencing further validated a high accuracy of mate-pair library sequencing to detect structural variants larger than 10 kB, proposing that this approach is powerful for clinical-grade genome-wide structural variant detection. Our study supports previous evidence for a role of ZNF804A in NDD and highlights the need for a more comprehensive assessment of structural variation in karyotypically abnormal individuals and patients with neurocognitive disease to avoid diagnostic deception.

  15. Diffusion magnetic resonance imaging study of schizophrenia in the context of abnormal neurodevelopment using multiple site data in a Chinese Han population

    Science.gov (United States)

    Li, Y; Xie, S; Liu, B; Song, M; Chen, Y; Li, P; Lu, L; Lv, L; Wang, H; Yan, H; Yan, J; Zhang, H; Zhang, D; Jiang, T

    2016-01-01

    Schizophrenia has increasingly been considered a neurodevelopmental disorder, and the advancement of neuroimaging techniques and associated computational methods has enabled quantitative re-examination of this important theory on the pathogenesis of the disease. Inspired by previous findings from neonatal brains, we proposed that an increase in diffusion magnetic resonance imaging (dMRI) mean diffusivity (MD) should be observed in the cerebral cortex of schizophrenia patients compared with healthy controls, corresponding to lower tissue complexity and potentially a failure to reach cortical maturation. We tested this hypothesis using dMRI data from a Chinese Han population comprising patients from four different hospital sites. Utilizing data-driven methods based on the state-of-the-art tensor-based registration algorithm, significantly increased MD measurements were consistently observed in the cortex of schizophrenia patients across all four sites, despite differences in psychopathology, exposure to antipsychotic medication and scanners used for image acquisition. Specifically, we found increased MD in the limbic system of the schizophrenic brain, mainly involving the bilateral insular and prefrontal cortices. In light of the existing literature, we speculate that this may represent a neuroanatomical signature of the disorder, reflecting microstructural deficits due to developmental abnormalities. Our findings not only provide strong support to the abnormal neurodevelopment theory of schizophrenia, but also highlight an important neuroimaging endophenotype for monitoring the developmental trajectory of high-risk subjects of the disease, thereby facilitating early detection and prevention. PMID:26784969

  16. The role of magnetic resonance imaging in assessing venous vascular abnormalities in the head and neck: a demonstration of cerebrospinal venous insufficiency in a subset of multiple sclerosis patients

    Directory of Open Access Journals (Sweden)

    E. Mark Haacke

    2015-06-01

    Full Text Available The study of chronic cerebrospinal venous insufficiency (CCSVI and its impact on the development and progression of multiple sclerosis (MS remains controversial. Although the initial thrust in evaluating CCSVI was with ultrasound, other modalities including magnetic resonance imaging (MRI have been used to study venous vascular abnormalities. This review focuses on the findings of a number of past MRI studies including a look at a combined study of four previous works with a cohort of 559 MS patients regarding structure and function of the extra-cranial vasculature. Strengths and limitations of each paper are discussed which give insight into conflicting reports of venous abnormalities in MS patients and healthy controls. Guidelines for data acquisition and analysis for future studies related to extra-cranial structure and flow, both arterial and venous, are discussed. This includes the grading of stenosis of the internal jugular veins (IJVs as well as normalized flows through major veins of the neck. The lack of agreement between most studies is likely due to inconsistent data acquisition and incomplete data analysis. Our own work over four independent sites shows good agreement, indicating that there is a high incidence of stenosis and structural venous abnormalities in the MS population and that this change results in reduced outflow of the IJVs and increased collateralization of venous return to the heart compared to healthy controls.

  17. The association between white-matter tract abnormalities, and neuropsychiatric and cognitive symptoms in retired professional football players with multiple concussions.

    Science.gov (United States)

    Multani, Namita; Goswami, Ruma; Khodadadi, Mozhgan; Ebraheem, Ahmed; Davis, Karen D; Tator, Charles H; Wennberg, Richard; Mikulis, David J; Ezerins, Leo; Tartaglia, Maria Carmela

    2016-07-01

    Retired professional athletes, who have suffered repetitive concussions, report symptoms of depression, anxiety, and memory impairment over time. Moreover, recent imaging data suggest chronic white-matter tract deterioration in sport-related concussion. The aim of this study is to evaluate the impact of repetitive concussions in retired professional football players on white-matter tracts, and relate these changes to neuropsychological function. All subjects (18 retired professional football players and 17 healthy controls) underwent imaging, neuropsychological assessment, and reported on concussion-related symptoms. Whole brain tract-based spatial statistics analysis revealed increased axial diffusivity in the right hemisphere of retired players in the (1) superior longitudinal fasciculus (SLF), (2) corticospinal tract, and (3) anterior thalamic radiations, suggesting chronic axonal degeneration in these tracts. Moreover, retired players report significantly higher neuropsychiatric and cognitive symptoms than healthy controls, and worsening of these symptoms since their last concussion. Loss of integrity in the right SLF significantly correlated with participants' visual learning ability. In sum, these results suggest that repetitive concussions in retired professional football players are associated with focal white-matter tract abnormalities that could explain some of the neuropsychiatric symptoms and cognitive deficits experienced by these retired athletes.

  18. Abnormal thermal expansion, multiple transitions, magnetocaloric effect, and electronic structure of Gd{sub 6}Co{sub 4.85}

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Jiliang [Department of Physics and Materials Science, City University of Hong Kong, Kowloon Tong (Hong Kong); Department of Chemistry and Biochemistry, University of Delaware, Newark, Delaware 19716 (United States); Zheng, Zhigang [School of Materials Science and Engineering, South China University of Technology, Guangzhou 510640 (China); Shan, Guangcun, E-mail: gshan2-c@my.cityu.edu.hk, E-mail: bobev@udel.edu, E-mail: apchshek@cityu.edu.hk [Department of Physics and Materials Science, City University of Hong Kong, Kowloon Tong (Hong Kong); School of Instrumentation Science and Optoelectronics Engineering, Beihang University, Beijing 100191 (China); Bobev, Svilen, E-mail: gshan2-c@my.cityu.edu.hk, E-mail: bobev@udel.edu, E-mail: apchshek@cityu.edu.hk [Department of Chemistry and Biochemistry, University of Delaware, Newark, Delaware 19716 (United States); Shek, Chan Hung, E-mail: gshan2-c@my.cityu.edu.hk, E-mail: bobev@udel.edu, E-mail: apchshek@cityu.edu.hk [Department of Physics and Materials Science, City University of Hong Kong, Kowloon Tong (Hong Kong)

    2015-10-07

    The structure of known Gd{sub 4}Co{sub 3} compound is re-determined as Gd{sub 6}Co{sub 4.85}, adopting the Gd{sub 6}Co{sub 1.67}Si{sub 3} structure type, which is characterized by two disorder Co sites filling the Gd octahedral and a short Gd-Gd distance within the octahedra. The compound shows uniaxial negative thermal expansion in paramagnetic state, significant negative expansion in ferromagnetic state, and positive expansion below ca. 140 K. It also exhibits large magnetocaloric effect, with an entropy change of −6.4 J kg{sup −1} K{sup −1} at 50 kOe. In the lattice of the compound, Co atoms at different sites show different spin states. It was confirmed by the X-ray photoelectron spectra and calculation of electronic structure and shed lights on the abnormal thermal expansion. The stability of such compound and the origin of its magnetism are also discussed based on measured and calculated electronic structures.

  19. Anormalidades do potencial evocado visual por padrão reverso em pacientes com esclerose múltipla definida Pattern reversal visual evoked potential abnormalities in patients with defined multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Vítor Tumas

    1995-12-01

    Full Text Available O potencial evocado visual por padrão reverso, obtido por padrões de 14' e 28', foi analisado retrospectivamente em 28 pacientes com diagnóstico de esclerose múltipla definida. Observamos respostas anormais em 27/28 (96,4% pacientes, em 31/36 (86% dos olhos considerados sintomáticos e em 16/20 (80% dos ollhos assintomáticos. Classificando os achados em cada olho segundo as respostas obtidas aos dois estímulos, observamos uma possível relação entre essa classificação e a gravidade de comprometimento visual pela doença. Detectamos em alguns olhos anormalidades isoladas do N75 e também de P100 apenas à estimulação de 28'. Dessa forma, a técnica empregada foi considerada sensível e pôde definir inclusive comprometimento visual subclínico. Entretanto, não teve sensibilidade absoluta para detectar anormalidades em alguns olhos sintomáticos. O tipo de resposta aos estímulos empregados pode sugerir o grau de extensão de envolvimento do sistema visual pela doença. Os achados mostram ainda o envolvimento irregular e predominante das fibras mais centrais da visão pela esclerose múltipla, e sugerem processadores neurais distintos e paralelos para as respostas aos dois padrões utilizados.The pattern reversal visual evoked potential with checks of 14' and 28' was restropectivelly studied in 28 patients with definite multiple sclerosis. We observed abnormal responses in 27/28 (96.4% patients, in 31/36 (86% of symptomatic eyes, and in 16/20 (80% of asymptomatic eyes. When we classified the abnormalities in each eye according to the findings obtained with each check, there was a correlation between the pattern of abnormalities and the severity of visual involvement. Occasionally there were isolated abnormalities of N75 or only in P100 obtained with 28' checks. In conclusion the methodology applied was very sensible in detecting abnormalities in visual pathway. We could classify the findings in each eye and correlate them with the

  20. Abnormal Uterine Bleeding FAQ

    Science.gov (United States)

    ... FREQUENTLY ASKED QUESTIONS FAQ095 GYNECOLOGIC PROBLEMS Abnormal Uterine Bleeding • What is a normal menstrual cycle? • When is bleeding abnormal? • At what ages is abnormal bleeding more ...

  1. Abnormal eggs detection based on spectroscopy technology and multiple classifier fusion%基于光谱技术和多分类器融合的异物蛋检测

    Institute of Scientific and Technical Information of China (English)

    祝志慧; 谢德君; 李婉清; 王巧华; 马美湖

    2015-01-01

    为了提高鸡蛋中的血斑和肉斑的检测准确率,给消费者提供高品质的鸡蛋,该文利用微型光纤光谱仪采集鸡蛋的透射光谱,在单分类器的基础上,通过多分类器的融合对异物蛋进行检测。首先根据差异性度量选取朴素贝叶斯, AdaBoost和SVM分类器作为单分类器,然后通过特征级融合选取了5个基分类器。最后,5个基分类器以加权投票机制进行决策级融合。多分类器融合对正常蛋和异物蛋的检测准确率分别为92.86%和91.07%。试验结果表明,利用多分类器融合所建立的模型优于单一分类器的模型,提高了对异物蛋的检测准确率。%The aim of the research was to improve detection accuracy of the blood spots and meat spots in eggs, which can provide consumers with high-quality eggs. Spectroscopy technology and multiple classifier fusion for abnormal egg detection were investigated. Micro fiber spectrometer (Ocean Optics company, USB2000+) was used to collect the transmittance spectroscopy of both normal and abnormal eggs, which were from Hubei Shendan Healthy Food Co., Ltd. After outliers detection and elimination, there were 336 eggs in all, which were randomly assigned to training set and test set; among the 336 eggs, 224 (about two-thirds of the total) were assigned to the training set, and the remaining 112 (about one-third of the total) were assigned to the test set. Before multiple classifier fusion, all data collected from micro fiber spectrometer was preprocessed including the methods of SNV (standard normal variate), smoothing and MSC (multiplicative scatter correction). usion of multiple classifiers was used to detect the foreign bodies of eggs on the basis of single-classifier. Firstly, five single-classifiers which was inclusive of Naive Bayes classifier, Mahalanobis distance classifier, PLS-DA (partial least squares-discriminate analysis) classifier, AdaBoost (adaptive boosting) classifier and SVM

  2. Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study.

    Science.gov (United States)

    Puhó, Erzsébet H; Czeizel, Andrew E; Acs, Nándor; Bánhidy, Ferenc

    2008-09-01

    Multiple congenital abnormalities (MCA) represent the most severe category of structural birth defects, (i.e. congenital abnormalities [CA]). Unfortunately, most MCA are not recognized and/or identified as MCA syndromes or MCA associations in the clinical practice. The term unclassified MCA (UMCA) is used for this category of MCA. We decided to evaluate the component CA of UMCA cases. The population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities (1980-1996) was evaluated. 'False' MCA, such as complex CA, polytopic field defects and sequences were excluded from the category of MCA. In addition, MCA syndromes caused by chromosomal aberrations and major mutant genes with preconceptional origin were excluded from the dataset of the Surveillance. MCA syndromes caused by teratogens and MCA associations with well-defined component CA were also excluded in the study. Thus, only UMCA cases (i) without the recognition of previously delineated MCA syndromes (ii) and/or without the identification of new MCA syndromes or (iii) caused by random combination of CA were included in the study. We compared data from 1349 cases with UMCA, 2405 matched population controls without any CA, and 21 494 malformed controls with isolated CA. There was a higher rate of stillbirth and a moderate male excess in UMCA cases, a somewhat shorter gestational age at delivery and an obvious reduction in birthweight. The intrauterine fetal growth retardation and rate of low-birthweight newborns showed an association with the number of component CA in UMCA cases. A similar association was not found with gestational age and the rate of preterm birth. UMCA represent one of the most severe categories of CA. The degree of intrauterine fetal growth retardation depends on number of component CA in UMCA cases.

  3. Loss of Peristaltic Reserve, Determined by Multiple Rapid Swallows, Is the Most Frequent Esophageal Motility Abnormality in Patients With Systemic Sclerosis.

    Science.gov (United States)

    Carlson, Dustin A; Crowell, Michael D; Kimmel, Jessica N; Patel, Amit; Gyawali, C Prakash; Hinchcliff, Monique; Griffing, W Leroy; Pandolfino, John E; Vela, Marcelo F

    2016-10-01

    We assessed peristaltic reserve using multiple rapid swallows (MRS) during esophageal high-resolution manometry (HRM) of 111 patients with systemic sclerosis (89 women; ages, 42-64 y). We performed a retrospective analysis of HRM studies that included MRS in patients with systemic sclerosis, performed at 2 tertiary referral centers, and compared data with those from 18 healthy volunteers (controls). HRM findings were analyzed according to the Chicago Classification to provide an esophageal motility diagnosis. Response to MRS was evaluated for the presence of contraction and for augmentation, defined as the distal contractile integral after MRS greater than the median distal contractile integral of 10 supine swallows. Esophageal motility diagnoses included 41% with absent contractility, 31% with normal motility, 23% with ineffective esophageal motility, and 5% that met the criteria for other esophageal motility disorders. Contraction (37%) and peristaltic augmentation (18%) after MRS were observed less frequently in patients with systemic sclerosis than in controls (83% and 100%, respectively). Impaired peristaltic reserve, as assessed with MRS during HRM, is therefore the most common esophageal motility finding among patients with systemic sclerosis.

  4. Abnormal Uterine Bleeding

    Science.gov (United States)

    ... first few months of a normal pregnancy. Some birth control pills or the intrauterine device (IUD) can also cause ... this type can significantly reduce abnormal bleeding. Like birth control pills, sometimes IUDs can actually cause abnormal bleeding. Tell ...

  5. Urine - abnormal color

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  6. Autoshaping of abnormal children.

    Science.gov (United States)

    Deckner, C W; Wilcox, L M; Maisto, S A; Blanton, R L

    1980-09-01

    Three experimentally naive abnormal children were exposed to a terminal operant contingency, i.e., reinforcement was delivered only if the children pressed a panel during intervals when it was lighted. Despite the absence of both successive approximation and manual shaping, it was found that each child began to respond discriminatively within a small number of trials. These data replicated previous animal studies concerned with the phenomena of autoshaping and signal-controlled responding. It was also found, however, that one type of autoshaping, the classical conditioning procedure, had a powerful suppressive effect on the discriminative responding. An experimental analysis that consisted procedure, had a powerful suppressive effect on discriminative responding. An experimental analysis that consisted of intrasubject reversal an multiple baseline designs established the internal validity of the findings. The finding of rapid acquisition of signal-controlled responding obtained with the initial procedure is suggessted to have practical significance. The disruptive effects of the classical form of autoshaping are discussed in terms of negative behavioral contrast.

  7. Neuroendocrine abnormalities in Parkinson's disease.

    Science.gov (United States)

    De Pablo-Fernández, Eduardo; Breen, David P; Bouloux, Pierre M; Barker, Roger A; Foltynie, Thomas; Warner, Thomas T

    2017-02-01

    Neuroendocrine abnormalities are common in Parkinson's disease (PD) and include disruption of melatonin secretion, disturbances of glucose, insulin resistance and bone metabolism, and body weight changes. They have been associated with multiple non-motor symptoms in PD and have important clinical consequences, including therapeutics. Some of the underlying mechanisms have been implicated in the pathogenesis of PD and represent promising targets for the development of disease biomarkers and neuroprotective therapies. In this systems-based review, we describe clinically relevant neuroendocrine abnormalities in Parkinson's disease to highlight their role in overall phenotype. We discuss pathophysiological mechanisms, clinical implications, and pharmacological and non-pharmacological interventions based on the current evidence. We also review recent advances in the field, focusing on the potential targets for development of neuroprotective drugs in Parkinson's disease and suggest future areas for research.

  8. Alterações encontradas no potencial visual evocado por padrão reverso em pacientes com esclerose múltipla definida Pattern-reversal visual evoked potential abnormalities in patients with defined multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Eric Pinheiro de Andrade

    2007-12-01

    patients with prior diagnosis of multiple sclerosis and to compare them to visual acuity. METHODS: Twenty-four patients with a definite diagnosis of multiple sclerosis were submitted to pattern reversal VEP from October 2001 to March 2007. RESULTS: In P100 component response, at 15' and 1º stimuli, 19 eyes presented latency response up to 115 ms in both stimuli, which coincided in 6 eyes with latency response between 116 and 135 ms; 11 eyes had a latency response higher than 135 ms, and four eyes did not respond to stimuli. Correlating visual acuity with P100 latency for 15', in Pearson r correlation, r=0.85 with p=0.000000123, and for 1º, r = 0.87 with p=0.0000000338. CONCLUSION: Approximately 60.4% of patients presented abnormalities. However, the correlation between the P100 latency (15' and 1º and visual acuity was statistically significant; therefore the better the visual acuity, the better the response to stimuli of the pattern-reversal VEP.

  9. CHROMOSOME ABNORMALITIES IN INFERTILITY

    Directory of Open Access Journals (Sweden)

    Mateja Smogavec

    2009-08-01

    Conclusions Chromosomal analysis is an important method in diagnostic procedures of infertility, because chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions. Sex chromosome aneuploidies are highly correlated to infertility of females and males.

  10. Hereditary urea cycle abnormality

    Science.gov (United States)

    ... vitro so the specific genetic cause is known. Teamwork between parents, the affected child, and doctors can help prevent severe illness. Alternative Names Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Images Male urinary system Urea cycle References Lichter-Konecki ...

  11. Abnormal menstrual periods (image)

    Science.gov (United States)

    ... may have a variety of causes, such as endometrial hyperplasia, endometrial polyps, uterine fibroids, and abnormal thyroid or ... the endometrium becomes unusually thick it is called endometrial ... Hyperplasia may cause profuse or extended menstrual bleeding.

  12. "Jeopardy" in Abnormal Psychology.

    Science.gov (United States)

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  13. Chromosomal Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-07-01

    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  14. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  15. Abnormal protein aggregationand neurodegenerativediseases

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Abnormal protein aggregation or amyloid is the major cause ofmany neurodegenerative disorders. The present review focuses on the correlation between sequence and structure features of proteins related to the diseases and abnormal protein aggregation. Recent progress has improved our knowledge on understand-ing the mechanism of amyloid formation. We suggest a nucleation model for ordered protein aggregation, which can also explain pathogenesis mechanisms of these neurodegenerative diseases in vivo.

  16. Multiple Vascular Accidents Including Rupture of a Sinus of Valsalva Aneurysm, a Minor Ischemic Stroke and Intracranial Arterial Anomaly in a Patient with Systemic Congenital Abnormalities: A Case Report

    Directory of Open Access Journals (Sweden)

    Masataka Nakajima

    2013-11-01

    Full Text Available A 39-year-old man with a history of rupture of a sinus of Valsalva aneurysm experienced an ischemic stroke. Although the patient presented left-sided hemiparesis for a week, no abnormal signals were indicated on diffusion-weighted imaging with repeated magnetic resonance scans. Carotid ultrasound and cerebral angiography were conducted, and they revealed hypoplasty of the left internal carotid artery with a low-lying carotid bifurcation at the level of the C6 vertebra. In addition, he was diagnosed with intellectual disabilities, evaluated by the Wechsler Adult Intelligence Scale-III, and congenital velopharyngeal insufficiency. We herein present the first report of a patient with cardio-cerebrovascular abnormalities, intellectual disabilities, and an otorhinolaryngological abnormality.

  17. [Hair shaft abnormalities].

    Science.gov (United States)

    Itin, P H; Düggelin, M

    2002-05-01

    Hair shaft disorders may lead to brittleness and uncombable hair. In general the hair feels dry and lusterless. Hair shaft abnormalities may occur as localized or generalized disorders. Genetic predisposition or exogenous factors are able to produce and maintain hair shaft abnormalities. In addition to an extensive history and physical examination the most important diagnostic examination to analyze a hair shaft problem is light microscopy. Therapy of hair shaft disorders should focus to the cause. In addition, minimizing traumatic influences to hair shafts, such as dry hair with an electric dryer, permanent waves and dyes is important. A short hair style is more suitable for such patients with hair shaft disorders.

  18. Chromosomal abnormalities and autism

    African Journals Online (AJOL)

    Farida El-Baz

    2015-06-19

    Jun 19, 2015 ... Received 19 April 2015; accepted 11 May 2015 ... Methods: This cross sectional study was conducted at the Child Psychiatry Clinic, ... Males are affected more than females, only one case had ... communication, repetitive behavior, abnormal movement ... course, age, sex and consanguinity of the patients.

  19. Cortical Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

    Full Text Available Grey-matter abnormalities at the cortical surface and regional brain size were mapped by high-resolution MRI and surface-based, computational image analytical techniques in a group of 27 children and adolescents with attention deficit hyperactivity disorder (ADHD and 46 controls, matched by age and sex, at the University of California at Los Angeles.

  20. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...

  1. Lacrimal system abnormalities.

    Science.gov (United States)

    Moore, B D

    1994-03-01

    This report outlines several of the more important abnormalities of the lacrimal system in infants and young children. Although rare, alacrima can be a very difficult clinical problem to treat. The most common cause of alacrima is the Riley-Day syndrome. Nasolacrimal duct obstruction is a very common anomaly in children. The clinical appearance and treatment of this disorder are discussed.

  2. Abnormalities of gonadal differentiation.

    Science.gov (United States)

    Berkovitz, G D; Seeherunvong, T

    1998-04-01

    Gonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y (SRY) gene plays a key role in testis determination, but its interaction with other genes is less well understood. Abnormalities of gonadal differentiation result in a range of clinical problems. 46,XY complete gonadal dysgenesis is defined by an absence of testis determination. Subjects have female external genitalia and come to clinical attention because of delayed puberty. Individuals with 46,XY partial gonadal dysgenesis usually present in the newborn period for the valuation of ambiguous genitalia. Gonadal histology always shows an abnormality of seminiferous tubule formation. A diagnosis of 46,XY true hermaphroditism is made if the gonads contain well-formed testicular and ovarian elements. Despite the pivotal role of the SRY gene in testis development, mutations of SRY are unusual in subjects with a 46,XY karyotype and abnormal gonadal development. 46,XX maleness is defined by testis determination in an individual with a 46,XX karyotype. Most affected individuals have a phenotype similar to that of Klinefelter syndrome. In contrast, subjects with 46,XX true hermaphroditism usually present with ambiguous genitalia. The majority of subjects with 46,XX maleness have Y sequences including SRY in genomic DNA. However, only rare subjects with 46,XX true hermaphroditism have translocated sequences encoding SRY. Mosaicism and chimaerism involving the Y chromosome can also be associated with abnormal gonadal development. However, the vast majority of subjects with 45,X/46,XY mosaicism have normal testes and normal male external genitalia.

  3. Liver abnormalities in pregnancy.

    Science.gov (United States)

    Than, Nwe Ni; Neuberger, James

    2013-08-01

    Abnormalities of liver function (notably rise in alkaline phosphatase and fall in serum albumin) are common in normal pregnancy, whereas rise in serum bilirubin and aminotransferase suggest either exacerbation of underlying pre-existing liver disease, liver disease related to pregnancy or liver disease unrelated to pregnancy. Pregnant women appear to have a worse outcome when infected with Hepatitis E virus. Liver diseases associated with pregnancy include abnormalities associated hyperemesis gravidarum, acute fatty liver disease, pre-eclampsia, cholestasis of pregnancy and HELLP syndrome. Prompt investigation and diagnosis is important in ensuring a successful maternal and foetal outcome. In general, prompt delivery is the treatment of choice for acute fatty liver, pre-eclampsia and HELLP syndrome and ursodeoxycholic acid is used for cholestasis of pregnancy although it is not licenced for this indication. Copyright © 2013 Elsevier Ltd. All rights reserved.

  4. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  5. XYY chromosome abnormality in sexual homicide perpetrators.

    Science.gov (United States)

    Briken, Peer; Habermann, Niels; Berner, Wolfgang; Hill, Andreas

    2006-03-05

    In a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7-0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy Checklist-Revised [Hare RD, 1991, The Hare Psychopathy Checklist-Revised, Toronto, Ontario, Canada: Multi-Health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders.

  6. Neurological abnormalities associated with CDMA exposure.

    Science.gov (United States)

    Hocking, B; Westerman, R

    2001-09-01

    Dysaesthesiae of the scalp and neurological abnormality after mobile phone use have been reported previously, but the roles of the phone per se or the radiations in causing these findings have been questioned. We report finding a neurological abnormality in a patient after accidental exposure of the left side of the face to mobile phone radiation [code division multiple access (CDMA)] from a down-powered mobile phone base station antenna. He had headaches, unilateral left blurred vision and pupil constriction, unilateral altered sensation on the forehead, and abnormalities of current perception thresholds on testing the left trigeminal ophthalmic nerve. His nerve function recovered during 6 months follow-up. His exposure was 0.015-0.06 mW/cm(2) over 1-2 h. The implications regarding health effects of radiofrequency radiation are discussed.

  7. Abnormal pressures as hydrodynamic phenomena

    Science.gov (United States)

    Neuzil, C.E.

    1995-01-01

    So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

  8. [Molecular abnormalities in lymphomas].

    Science.gov (United States)

    Delsol, G

    2010-11-01

    Numerous molecular abnormalities have been described in lymphomas. They are of diagnostic and prognostic value and are taken into account for the WHO classification of these tumors. They also shed some light on the underlying molecular mechanisms involved in lymphomas. Overall, four types of molecular abnormalities are involved: mutations, translocations, amplifications and deletions of tumor suppressor genes. Several techniques are available to detect these molecular anomalies: conventional cytogenetic analysis, multicolor FISH, CGH array or gene expression profiling using DNA microarrays. In some lymphomas, genetic abnormalities are responsible for the expression of an abnormal protein (e.g. tyrosine-kinase, transcription factor) detectable by immunohistochemistry. In the present review, molecular abnormalities observed in the most frequent B, T or NK cell lymphomas are discussed. In the broad spectrum of diffuse large B-cell lymphomas microarray analysis shows mostly two subgroups of tumors, one with gene expression signature corresponding to germinal center B-cell-like (GCB: CD10+, BCL6 [B-Cell Lymphoma 6]+, centerine+, MUM1-) and a subgroup expressing an activated B-cell-like signature (ABC: CD10-, BCL6-, centerine-, MUM1+). Among other B-cell lymphomas with well characterized molecular abnormalies are follicular lymphoma (BCL2 deregulation), MALT lymphoma (Mucosa Associated Lymphoid Tissue) [API2-MALT1 (mucosa-associated-lymphoid-tissue-lymphoma-translocation-gene1) fusion protein or deregulation BCL10, MALT1, FOXP1. MALT1 transcription factors], mantle cell lymphoma (cycline D1 [CCND1] overexpression) and Burkitt lymphoma (c-Myc expression). Except for ALK (anaplastic lymphoma kinase)-positive anaplastic large cell lymphoma, well characterized molecular anomalies are rare in lymphomas developed from T or NK cells. Peripheral T cell lymphomas not otherwise specified are a heterogeneous group of tumors with frequent but not recurrent molecular abnormalities

  9. Feeling Abnormal: Simulation of Deviancy in Abnormal and Exceptionality Courses.

    Science.gov (United States)

    Fernald, Charles D.

    1980-01-01

    Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…

  10. MRI of fetal GI tract abnormalities.

    Science.gov (United States)

    Veyrac, C; Couture, A; Saguintaah, M; Baud, C

    2004-01-01

    We describe the magnetic resonance (MR) patterns of a variety of fetal gastrointestinal (GI) abnormalities. Thirty-two fetuses between 23 and 38 weeks' gestation with abnormal appearance of the GI tract by ultrasound underwent MR imaging with T1- and T2-weighted sequences. The MR aspect of intestinal atresia (duodenal atresia, one case; small bowel atresia, nine cases) included dilatation of the bowel loops, accurate assessment of the normal bowel distal to the atresia (except in the patient with multiple atresia and apple-peel syndrome), and micro-rectum with decreased T1 signal (except in the patient with duodenal atresia). Megacystis-microcolon-intestinal hypoperistalsis syndrome (one case) was indicated by an abnormal signal of the entire bowel and an abnormal pattern for the urinary tract. Meconium pseudocysts (two cases) were easily differentiated from enteric cysts (two cases). High anorectal malformations with (two cases) or without (one case) urinary fistula and cloacal malformation (one case) are described and MR findings are discussed. The capability of MR imaging to demonstrate the normal bowel with intraperitoneal anomalies (e.g., congenital diaphragmatic hernia, and sacrococcygeal teratoma) is emphasized. MR imaging is informative in the diagnosis of GI tract abnormalities, especially the severe malformations, with much more accuracy than sonography.

  11. Multiple factors analysis of risk factors of abnormal metabolic factors in metabolic syndrome%代谢综合征异常代谢因子的危险因素多因素分析

    Institute of Scientific and Technical Information of China (English)

    谢新平; 钟爱军; 陈晓燕

    2012-01-01

    OBJECTIVE To investigate the major factors affecting risk factors of abnormal metabolic factors in metabolic syndrome so as to provide theoretical foundation for predict risk factors of abnormal metabolic factors in metabolic syndrome and disease of blood vessel of heart and brain. METHODS The clinical data of 207 cases who seek health examination in the cancer hospital of Hubei between June 2010 and December 2010 were analyzed by univariate and Logistic regression. The age, sex, body mass index, physical activity, smoking, drinking wine, fruit and vegetables,, breakfast, psychologic status, sleep, edible oil and family medical history were analyzed by univariate analysis. RESULTS Univariate analysis showed there was statistical significance in age (P = 0.000), sex (P = 0.000), smoking (P = 0.000), drinking wine (P = 0.001) and edible oil (P = 0.008); The multivariate Logistic regression analysis showed that age (P = 0.000) and sex (P = 0.014) were related to risk factors of abnormal metabolic factors in metabolic syndrome. CONCLUSION Age and sex are independent risk factors for the abnormal metabolic factors in metabolic syndrome. Smoking, drinking wine and edible oil were related to risk factors of abnormal metabolic factors in metabolic syndrome.%目的 分析产生代谢综合征异常代谢因子的多种危险因素,为预防代谢综合征异常代谢因子及心脑血管疾病的发生提供理论依据.方法 选取湖北省肿瘤医院2010年6~12月期间,参加体检并接受健康风险评估调查的本院职工207例,对年龄、性别、体力活动、吸烟、饮酒、果蔬、早餐、心理、睡眠、食用油及家族史等相关因素进行单因素分析,并进行逐步Logistic回归分析.结果 单因素分析显示患者年龄(P=0.000)、性别(P=0.000)、吸烟(P=0.000)、饮酒(P=0.001)、食用油(P=0.008)等多项临床指标组间差异有统计学意义(P<0.05),多因素Logistic逐步回归法筛选变量,年龄(P=0.000)

  12. Russia: An Abnormal Country

    Directory of Open Access Journals (Sweden)

    Steven Rosefielde

    2005-06-01

    Full Text Available Andrei Shleifer and Daniel Treisman recently rendered a summary verdict on the post Soviet Russian transition experience finding that the Federation had become a normal country with the west's assistance, and predicting that it would liberalize and develop further like other successful nations of its type. This essay demonstrates that they are mistaken on the first count, and are likely to be wrong on the second too. It shows factually, and on the norms elaborated by Pareto, Arrow and Bergson that Russia is an abnormal political economy unlikely to democratize, westernize or embrace free enterprise any time soon

  13. Abnormal ionization in sonoluminescence

    Science.gov (United States)

    Zhang, Wen-Juan; An, Yu

    2015-04-01

    Sonoluminescence is a complex phenomenon, the mechanism of which remains unclear. The present study reveals that an abnormal ionization process is likely to be present in the sonoluminescing bubble. To fit the experimental data of previous studies, we assume that the ionization energies of the molecules and atoms in the bubble decrease as the gas density increases and that the decrease of the ionization energy reaches about 60%-70% as the bubble flashes, which is difficult to explain by using previous models. Project supported by the Research Fund for the Doctoral Program of Higher Education of China (Grant No. 20120002110031) and the National Natural Science Foundation of China (Grant No. 11334005).

  14. How Does Structured Sparsity Work in Abnormal Event Detection?

    DEFF Research Database (Denmark)

    Ren, Huamin; Pan, Hong; Olsen, Søren Ingvor

    behavior. Otherwise, it should be detected as an abnormal frame. However, it is infeasible to apply structured sparsity algorithms directly in abnormal event detection, which are mainly due to two reasons: 1) abnormal event detection has a highly biased training data - only normal videos are used during...... the training, which is the due to the fact that abnormal videos are limited or even unavailable in advance in most video surveillance applications. As a result, there could be only one label in the training data which hampers supervised learning; 2) Even though there are multiple types of normal behaviors, how...... structure learned from the training data could have a high bias and ruin the precision of abnormal event detection. Therefore, we in the paper propose an algorithm to solve the abnormality detection problem by sparse representation, in which local structured sparsity is preserved in coefficients. To better...

  15. Parsing abnormal grain growth in specialty aluminas

    Science.gov (United States)

    Lawrence, Abigail Kremer

    Grain growth in alumina is strongly affected by the impurities present in the material. Certain impurity elements are known to have characteristic effects on abnormal grain growth in alumina. Specialty alumina powders contain multiple impurity species including MgO, CaO, SiO2, and Na 2O. In this work, sintered samples made from alumina powders containing various amounts of the impurities in question were characterized by their grain size and aspect ratio distributions. Multiple quantitative methods were used to characterize and classify samples with varying microstructures. The grain size distributions were used to partition the grain size population into subpopulations depending on the observed deviation from normal behavior. Using both grain size and aspect ratio a new visual representation for a microstructure was introduced called a morphology frequency map that gives a fingerprint for the material. The number of subpopulations within a sample and the shape of the distribution on the morphology map provided the basis for a classification scheme for different types of microstructures. Also using the two parameters a series of five metrics were calculated that describe the character of the abnormal grains in the sample, these were called abnormal character values. The abnormal character values describe the fraction of grains that are considered abnormal, the average magnitude of abnormality (including both grain size and aspect ratio), the average size, and variance in size. The final metric is the correlation between grain size and aspect ratio for the entire population of grains. The abnormal character values give a sense of how different from "normal" the sample is, given the assumption that a normal sample has a lognormal distribution of grain size and a Gaussian distribution of aspect ratios. In the second part of the work the quantified measures of abnormality were correlated with processing parameters such as composition and heat treatment conditions. A

  16. A Rare Stapes Abnormality

    Directory of Open Access Journals (Sweden)

    Hala Kanona

    2015-01-01

    Full Text Available The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively.

  17. Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

    Science.gov (United States)

    Karra, Vijay Kumar; Jindal, Ankur; Puppala, Madhavi; Singh, Pratiksha; Rawat, Kanchan; Kapoor, Seema

    2016-01-01

    Introduction Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. Aim The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. Materials and Methods Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner’s syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. Results Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. Conclusion We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling. PMID:27790464

  18. Communication and abnormal behaviour.

    Science.gov (United States)

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential).

  19. Abnormally dark or light skin

    Science.gov (United States)

    Hyperpigmentation; Hypopigmentation; Skin - abnormally light or dark ... Normal skin contains cells called melanocytes. These cells produce melanin , the substance that gives skin its color. Skin with ...

  20. Abnormal lung development in congenital diaphragmatic hernia.

    Science.gov (United States)

    Ameis, Dustin; Khoshgoo, Naghmeh; Keijzer, Richard

    2017-06-01

    The outcomes of patients diagnosed with congenital diaphragmatic hernia (CDH) have recently improved. However, mortality and morbidity remain high, and this is primarily caused by the abnormal lung development resulting in pulmonary hypoplasia and persistent pulmonary hypertension. The pathogenesis of CDH is poorly understood, despite the identification of certain candidate genes disrupting normal diaphragm and lung morphogenesis in animal models of CDH. Defects within the lung mesenchyme and interstitium contribute to disturbed distal lung development. Frequently, a disturbance in the development of the pleuroperitoneal folds (PPFs) leads to the incomplete formation of the diaphragm and subsequent herniation. Most candidate genes identified in animal models have so far revealed relatively few strong associations in human CDH cases. CDH is likely a highly polygenic disease, and future studies will need to reconcile how disturbances in the expression of multiple genes cause the disease. Herein, we summarize the available literature on abnormal lung development associated with CDH. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Abnormal pressure in hydrocarbon environments

    Science.gov (United States)

    Law, B.E.; Spencer, C.W.

    1998-01-01

    Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.

  2. Systemic abnormalities in liver disease

    Institute of Scientific and Technical Information of China (English)

    Masami Minemura; Kazuto Tajiri; Yukihiro Shimizu

    2009-01-01

    Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases.

  3. Radiological and orthopedic abnormalities in Satoyoshi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Haymon, M.L. [Children`s Hospital, New Orleans, LA (United States). Dept. of Radiology; Willis, R.B. [Children`s Hospital, New Orleans, LA (United States). Dept. of Orthopedics; Ehlayel, M.S. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics; Lacassie, Y. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics]|[Children`s Hospital, New Orleans, LA (United States). Dept. of Pediatrics

    1997-05-01

    Satoyoshi syndrome is a are disorder on unknown etiology characterized by progressive, painful intermittent muscle spasms, serve skeletal abnormalities mimicking a skeletal dyplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20{sup 1}/{sub 2}-year-old Caucasian woman whith characteristic manifestation of the syndrome. Since the establishment of the diagnostic 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi.

  4. 免疫组织化学联合荧光原位杂交技术检测多发性骨髓瘤分子细胞遗传学异常%Immunohistochemistry and fluorescence in situ hybridization to detect multiple myeloma tumor molecular cytogenetic abnormalities and their clinical significance

    Institute of Scientific and Technical Information of China (English)

    杨璐璐; 聂玉; 刘欣; 汪健; 王晓秋; 王志华; 郑昌成; 王兴兵; 朱小玉

    2013-01-01

    (fluorescence in situ hybridization,FISH) technology to detect multiple myeloma (MM) common molecular cytogenetic abnormalities.Methods 20 cases of newly diagnosed MM patients diagnosed according to WHO criteria,take the bone marrow tissue embedded in paraffin and sliced; Application of IHC to FISH detection of CD138+ cells in bone marrow biopsies.Detected by 1q21/RB1,D13S319/p53,IGH three groups of sequence-specific gene probe,and 10 cases of n0n-malignant hematologic system disease in patients with bone marrow tissue sections as controls to establish probes for the detection threshold,the test results greater than the threshold positive,less than the threshold value was negative.Results (1) 16 cases detected in the molecular cytogenetic abnormalities in IHC combined with FISH technique detected in 20 cases of newly diagnosed MM patients (80.0%),including 1q21 amplification in 5 cases (25.0%),the RB1 deletion of 6 cases (30.0%),D13S319 deletion 9 cases (45.0%) of p53 missing 3 cases (15.0%),the IGH gene rearrangement in 10 cases (50.0%).Detection of abnormal 5 cases (25.0%),while there were two kinds of abnormalities in 6 cases (30.0%),three kinds of abnormalities in 4 cases (20.0%),four kinds of abnormal cases (5.0%).(2) The IHC combined with FISH technique detection rate of 80%,and chromosome G-banding technique detection rate of 10.0%,two sets of rate differences were significant (P < 0.05).Prompt IHC combined with FISH detected MM molecular cytogenetic abnormalities was significantly superior to chromosome G-banding technique.(3) By age <50 years old,50-60 years old,60-year-old grouping,molecular cytogenetic abnormalities detected in 5 cases (83.3%),respectively,in 6 cases (100%),5 cases (62.5%).Three groups of ages molecular cytogenetic abnormal results of the chi-square test age > 60 years compared with the other two groups there was significant difference (P < 0.05).(4) Between chromosomal with genetic abnormalities of MM patients

  5. Imaging findings of sternal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Franquet, T. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Gimenez, A. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Alegret, X. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Sanchis, E. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Rivas, A. [Dept. of Radiology, Hospital Vall d`Hebron, Universidad Autonoma de Barcelona (Spain)

    1997-05-01

    Radiographic findings in the sternal abnormalities are often nonspecific, showing appearances from a localized benign lesion to an aggressive lesion as seen with infections and malignant neoplasms. A specific diagnosis of sternal abnormalities can be suggested on the basis of CT and MR characteristics. Familiarity with the presentation and variable appearance of sternal abnormalities may aid the radiologist is suggesting a specific diagnosis. We present among others characteristic radiographic findings of hemangioma, chondrosarcoma, hydatid disease, and SAPHO syndrome. In those cases in which findings are not specific, cross-sectional imaging modalities may help the clinician in their management. (orig.)

  6. Pregnancy Complications: Umbilical Cord Abnormalities

    Science.gov (United States)

    ... defects. These tests may include a detailed ultrasound, amniocentesis (to check for chromosomal abnormalities) and in some ... the provider may recommend additional tests, such as amniocentesis and a detailed ultrasound, to diagnose or rule ...

  7. Central nervous system and cervical spine abnormalities in Apert syndrome.

    Science.gov (United States)

    Breik, Omar; Mahindu, Antony; Moore, Mark H; Molloy, Cindy J; Santoreneos, Stephen; David, David J

    2016-05-01

    Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence of 1/65,000 births. With an extensive range of phenotypic and developmental manifestations, its management requires a multidisciplinary approach. A variety of craniofacial, central nervous system (CNS), and cervical spine abnormalities have been reported in these patients. This study aimed to determine the incidence of these CNS abnormalities in our case series. Retrospective review of Australian Craniofacial Unit (ACFU) database for Apert patients was performed. Data collected that included demographics, place of origin, age at presentation, imaging performed, and images were reviewed and recorded. Where available, developmental data was also recorded. Ninety-four patients seen and managed at the ACFU had their CNS and cervical spine abnormalities documented. The main CNS abnormalities were prominent convolutional markings (67 %), ventriculomegaly (48 %), crowded foramen magnum (36 %), deficient septum pellucidum (13 %), and corpus callosum agenesis in 11 %. Major C-spine findings were present in 50.8 % of patients and included fusion of posterior elements of C5/C6 (50 %) and C3/4 (27 %). Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %). Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The significance of these abnormalities remains largely unknown. Further research is needed to better understand the impact of these findings on growth, development, and treatment outcomes.

  8. Liver abnormalities and endocrine diseases.

    Science.gov (United States)

    Burra, Patrizia

    2013-08-01

    The liver and its pleotropic functions play a fundamental role in regulating metabolism, and is also an inevitable target of multiple metabolic disorders. The numerous and constant relationships and feedback mechanisms between the liver and all endocrine organs is reflected by the fact that an alteration of one oftentimes results in the malfunction of the other. Hypo- and hyperthyroidism are frequently associated with hepatic alterations, and thyroid diseases must be excluded in transaminase elevation of unknown cause. Drugs such as propylthiouracil, used in the treatment of hyperthyroidism, may induce liver damage, and other drugs such as amiodarone, carbamazepine, and several chemotherapeutic agents can lead to both thyroid and liver abnormalities. Liver diseases such as hepatitis, hepatocellular carcinoma, and cirrhosis may cause altered levels of thyroid hormones, and alcoholic liver disease, both due to the noxious substance ethanol as well as to the hepatic damage it causes, may be responsible for altered thyroid function. Both excess and insufficiency of adrenal function may result in altered liver function, and adrenocortical dysfunction may be present in patients with cirrhosis, especially during episodes of decompensation. Again an important player which affects both the endocrine system and the liver, alcohol may be associated with pseudo-Cushing syndrome. Sex hormones, both intrinsic as well as extrinsically administered, have an important impact on liver function. While oestrogens are related to cholestatic liver damage, androgens are the culprit of adenomas and hepatocellular carcinoma, among others. Chronic liver disease, on the other hand, has profound repercussions on sex hormone metabolism, inducing feminization in men and infertility and amenorrhoea in women. Lastly, metabolic syndrome, the pandemia of the present and future centuries, links the spectrum of liver damage ranging from steatosis to cirrhosis, to the array of endocrine alterations

  9. Memetics clarification of abnormal behavior

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: Biological medicine is hard to fully and scientifically explain the etiological factor and pathogenesis of abnormal behaviors; while, researches on philosophy and psychology (including memetics) are beneficial to better understand and explain etiological factor and pathogenesis of abnormal behaviors. At present, the theory of philosophy and psychology is to investigate the entity of abnormal behavior based on the views of memetics.METHODS: Abnormal behavior was researched in this study based on three aspects, including instinctive behavior disorder, poorly social-adapted behavior disorder and mental or body disease associated behavior disorder. Most main viewpoints of memetics were derived from "The Meme Machine", which was written by Susan Blackmore. When questions about abnormal behaviors induced by mental and psychological diseases and conduct disorder of teenagers were discussed, some researching achievements which were summarized by authors previously were added in this study, such as aggressive behaviors, pathologically aggressive behaviors, etc.RESULTS: The abnormal behaviors mainly referred to a part of people's substandard behaviors which were not according with the realistic social environment, culture background and the pathologic behaviors resulted from people's various psychological diseases. According to the theory of "meme", it demonstrated that the relevant behavioral obstacles of various psychological diseases, for example, the unusual behavior of schizophrenia, were caused, because the old meme was destroyed thoroughly but the new meme was unable to establish; psychoneurosis and personality disorder were resulted in hard establishment of meme; the behavioral obstacles which were ill-adapted to society, for example, various additional and homosexual behaviors, were because of the selfish replications and imitations of "additional meme" and "homosexual meme"; various instinct behavioral and congenital intelligent obstacles were not significance

  10. [Diagnosticum of abnormalities of plant meiotic division].

    Science.gov (United States)

    Shamina, N V

    2006-01-01

    Abnormalities of plant meiotic division leading to abnormal meiotic products are summarized schematically in the paper. Causes of formation of monads, abnormal diads, triads, pentads, polyads, etc. have been observed in meiosis with both successive and simultaneous cytokinesis.

  11. Thyroid abnormality in perimenopausal women with abnormal uterine bleeding

    Directory of Open Access Journals (Sweden)

    Prasanna Byna

    2015-11-01

    Full Text Available Background: AUB is a common but complicated clinical presentation and occurs in 15-20% of women between menarche to menopause and significantly affects the women's health. Women with thyroid dysfunction often have menstrual irregularities, infertility and increased morbidity during pregnancy. The objective of present study is to find the correlation between thyroid disorders and AUB in perimenopausal women attending gynecology OPD. Methods: In the present study, fifty five patients with AUB were included and were evaluated for the cause including thyroid abnormality. Thyroid function tests were done in all patients. Results: Among 55 patients, 12 patients were diagnosed as hypothyroidism and 7 as hyperthyroidism, women with AUB 36 (65.4% were euthyroid. Among 19 women with thyroid abnormality, heavy menstrual bleeding was seen in 8 (42% women, 6 (31.57% had polymenorrhagia, 5 (26.31% had oligomenorrhoea. The frequent menstrual abnormality in women with hypothyroidism (12 women was heavy menstrual bleeding in 5 (41.6% women, 3 (25% had oligomennorhoea, 4 (33.3% had polymenorrhagia. Out of 7 women with hyperthyroidism, 2 (28.57% had oligomenorrhoea, 3 (42.8% had heavy menstrual bleeding, 2 (28.57% had polymenorrhagia. In a total of 55 patients with AUB, 11 (20% had structural abnormalities in uterus and ovaries. 5 (9% had adenomyosis, 3 (5.4% had ovarian cysts, 3 (5.4% had fibroids. Conclusions: It is important to screen all women for thyroid abnormality who are presenting with AUB especially with non-structural causes of AUB. Correction of thyroid abnormalities also relieves AUB. This will avoid unnecessary hormonal treatment and surgery. [Int J Res Med Sci 2015; 3(11.000: 3250-3253

  12. Kidney transplantation in abnormal bladder

    Directory of Open Access Journals (Sweden)

    Shashi K Mishra

    2007-01-01

    Full Text Available Structural urologic abnormalities resulting in dysfunctional lower urinary tract leading to end stage renal disease may constitute 15% patients in the adult population and up to 20-30% in the pediatric population. A patient with an abnormal bladder, who is approaching end stage renal disease, needs careful evaluation of the lower urinary tract to plan the most satisfactory technical approach to the transplant procedure. Past experience of different authors can give an insight into the management and outcome of these patients. This review revisits the current literature available on transplantation in abnormal bladder and summarizes the clinical approach towards handling this group of difficult transplant patients. We add on our experience as we discuss the various issues. The outcome of renal transplant in abnormal bladder is not adversely affected when done in a reconstructed bladder. Correct preoperative evaluation, certain technical modification during transplant and postoperative care is mandatory to avoid complications. Knowledge of the abnormal bladder should allow successful transplantation with good outcome.

  13. Abnormal insulin levels and vertigo.

    Science.gov (United States)

    Proctor, C A

    1981-10-01

    Fifty patients with unexplained vertigo (36) or lightheadedness (14) are evaluated, all of whom had abnormal ENGs and normal audiograms. Five hour insulin glucose tolerance tests were performance on all patients, with insulin levels being obtained fasting and at one-half, one, two, and three hours. The results of this investigation were remarkable. Borderline or abnormal insulin levels were discovered in 82% of patients; 90% were found to have either an abnormal glucose tolerance test or at least borderline insulin levels. The response to treatment in these dizzy patients was also startling, with appropriate low carbohydrate diets improving the patient's symptoms in 90% of cases. It is, therefore, apparent that the earliest identification of carbohydrate imbalance with an insulin glucose tolerance test is extremely important in the work-up of the dizzy patients.

  14. General Information about Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  15. Stages of Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  16. Treatment Options for Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  17. Treatment Option Overview (Plasma Cell Neoplasms Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  18. Hereditary sideroblastic anemia with associated platelet abnormalities.

    Science.gov (United States)

    Soslau, G; Brodsky, I

    1989-12-01

    A 62 year old male (R.H.) presented with a mild anemia (Hb 11-12 gm%) and a history of multiple hemorrhagic episodes. The marrow had 40-50% sideroblasts. Marrow chromosomes were normal. His wife was hematologically normal, while one daughter, age 30 years, had a sideroblastic anemia (Hb 11-12 gm%) with 40-50% sideroblasts in the marrow. Her anemia was first noted at age 15 years. Administration of vitamin B6 did not correct the anemia in either the father or daughter. Platelet abnormalities inherited jointly with this disorder are described for the first time. Both R.H. and his daughter had prolonged bleeding times, with normal PTT, PT times, fVIII:C, fVIII:Ag levels, and vWF multimers, which may rule out a von Willebrand's disease. They have normal platelet numbers but abnormally low platelet adhesiveness and greatly depressed ADP, collagen, and epinephrine responsiveness. Response to ristocetin was in the low normal range, and aggregation with thrombin was normal. While desmopressin completely normalized R.H.'s bleeding time, none of these platelet parameters were improved. No differences in the SDS PAGE protein patterns of RH platelets could be detected in comparison to normal samples. His platelets took up and released serotonin (5HT) normally, and electron micrographs defined no morphological abnormalities. However, no ATP was released from platelets activated with collagen, and when followed by thrombin about fourfold greater ATP was released by control platelets as compared to RH platelets. The dense granule fraction derived from RH platelets contained about 20% the level of ATP, 40% the level of ADP, and 50% the level of 5HT detected in a normal sample. The results indicate that the bleeding disorder is related to a non-classical heritable storage pool defect. The connection between the inherited sideroblastic anemia and platelet defects is obscure.

  19. Cardiac abnormalities after subarachnoid hemorrhage

    NARCIS (Netherlands)

    Bilt, I.A.C. van der

    2016-01-01

    Aneurysmal subarachnoid hemorrhage(aSAH) is a devastating neurological disease. During the course of the aSAH several neurological and medical complications may occur. Cardiac abnormalities after aSAH are observed often and resemble stress cardiomyopathy or Tako-tsubo cardiomyopathy(Broken Heart Syn

  20. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  1. Skeleton-Based Abnormal Gait Detection

    Directory of Open Access Journals (Sweden)

    Trong-Nguyen Nguyen

    2016-10-01

    Full Text Available Human gait analysis plays an important role in musculoskeletal disorder diagnosis. Detecting anomalies in human walking, such as shuffling gait, stiff leg or unsteady gait, can be difficult if the prior knowledge of such a gait pattern is not available. We propose an approach for detecting abnormal human gait based on a normal gait model. Instead of employing the color image, silhouette, or spatio-temporal volume, our model is created based on human joint positions (skeleton in time series. We decompose each sequence of normal gait images into gait cycles. Each human instant posture is represented by a feature vector which describes relationships between pairs of bone joints located in the lower body. Such vectors are then converted into codewords using a clustering technique. The normal human gait model is created based on multiple sequences of codewords corresponding to different gait cycles. In the detection stage, a gait cycle with normality likelihood below a threshold, which is determined automatically in the training step, is assumed as an anomaly. The experimental results on both marker-based mocap data and Kinect skeleton show that our method is very promising in distinguishing normal and abnormal gaits with an overall accuracy of 90.12%.

  2. Abnormal epidermal changes after argon laser treatment

    Energy Technology Data Exchange (ETDEWEB)

    Neumann, R.A.; Knobler, R.M.; Aberer, E.; Klein, W.; Kocsis, F.; Ott, E. (Univ. of Vienna (Austria))

    1991-02-01

    A 26-year-old woman with a congenital port-wine stain on the forehead was treated three times at 2-month intervals with an argon laser. Six months after the last treatment, moderate blanching and mild scaling confined to the treated area was observed. A biopsy specimen of the treated area revealed a significant decrease in ectatic vessels. However, epidermal changes similar to those of actinic keratosis with disorganized cell layers and marked cytologic abnormalities were seen. Analysis of peripheral blood lymphocytes for a defect in DNA repair was negative. Multiple, argon laser-induced photothermal effects may be responsible for the changes observed in our case and may lead to premalignant epidermal transformation.

  3. Nail abnormalities in rheumatoid arthritis.

    Science.gov (United States)

    Michel, C; Cribier, B; Sibilia, J; Kuntz, J L; Grosshans, E

    1997-12-01

    Many nail abnormalities have traditionally been described in association with rheumatoid arthritis (RA), but their specificity has never been assessed in a controlled study. Our purpose was to evaluate the frequency and the specificity of nail changes associated with RA in a case-controlled study including 50 patients suffering from RA and 50 controls. For each patient, a general skin examination was performed and the 20 nails were examined. The nail features were noted and classified. A chi 2 test or a Fisher test was used to compare the two groups. The only nail abnormalities significantly associated with RA were longitudinal ridging on nine or 10 finger nails (29 patients in the RA group vs. three in the controls, chi 2: P nail (24 patients vs. 10, chi 2: P nail changes were noticed but were not frequent enough to be significant. The presence of longitudinal ridging on the finger nails was significantly associated with RA.

  4. Mastoid abnormalities in Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-06-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

  5. Computed tomography of thymic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Schnyder, P.; Candardjis, G.

    1987-05-01

    Computed tomographic examinations of 38 patients with surgically and histologically proven diagnosis were reviewed. Twenty subjects (52%) had an invasive thymoma and 16% an hyperplastic thymus. Myasthenia gravis was present in 6 cases (16%) of thymic abnormalities, four (10,5%) with invasive thymoma and two (5%) with thymic hyperplasia. Graves' disease was also present in one case of thymic hyperplasia. We emphasize the contribution of CT to the diagnosis and the prognosis.

  6. Meiotic abnormalities in infertile males.

    Science.gov (United States)

    Egozcue, J; Sarrate, Z; Codina-Pascual, M; Egozcue, S; Oliver-Bonet, M; Blanco, J; Navarro, J; Benet, J; Vidal, F

    2005-01-01

    Meiotic anomalies, as reviewed here, are synaptic chromosome abnormalities, limited to germ cells that cannot be detected through the study of the karyotype. Although the importance of synaptic errors has been underestimated for many years, their presence is related to many cases of human male infertility. Synaptic anomalies can be studied by immunostaining of synaptonemal complexes (SCs), but in this case their frequency is probably underestimated due to the phenomenon of synaptic adjustment. They can also be studied in classic meiotic preparations, which, from a clinical point of view, is still the best approach, especially if multiplex fluorescence in situ hybridization is at hand to solve difficult cases. Sperm chromosome FISH studies also provide indirect evidence of their presence. Synaptic anomalies can affect the rate of recombination of all bivalents, produce achiasmate small univalents, partially achiasmate medium-sized or large bivalents, or affect all bivalents in the cell. The frequency is variable, interindividually and intraindividually. The baseline incidence of synaptic anomalies is 6-8%, which may be increased to 17.6% in males with a severe oligozoospermia, and to 27% in normozoospermic males with one or more previous IVF failures. The clinical consequences are the production of abnormal spermatozoa that will produce a higher number of chromosomally abnormal embryos. The indications for a meiotic study in testicular biopsy are provided.

  7. Brain MRI abnormalities in neuromyelitis optica

    Energy Technology Data Exchange (ETDEWEB)

    Wang Fei, E-mail: feiwang1973@gmail.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Liu Yaou, E-mail: asiaeurope80@gmail.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Duan Yunyun, E-mail: duanyun2003@sohu.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Li Kuncheng, E-mail: kunchengli@yahoo.com.cn [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Education Ministry Key Laboratory for Neurodegenerative Disease, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China)

    2011-11-15

    Objective: The purpose of this study was to explore brain MRI findings in neuromyelitis optica (NMO) and to investigate specific brain lesions with respect to the localization of aquaporin-4 (AQP-4). Materials and methods: Forty admitted patients (36 women) who satisfied the 2006 criteria of Wingerchuk et al. for NMO were included in this study. All patients received a neurological examination and MRI scanning including brain and spinal cord. MRIs were classified as normal, nonspecific, multiple sclerosis-like, typical abnormalities. MS-like lesions were too few to satisfy the Barkhof et al. criteria for MS. Confluent lesions involving high AQP-4 regions were considered typical. Non-enhancing deep white matter lesions other than MS-like lesions or typical lesions were classified as nonspecific. Results: Brain MRI lesions were delineated in 12 patients (25%). Four patients (10%) had hypothalamus, brainstem or periventricle lesions. Six (15%) patients were nonspecific, and 2 (5%) patients had multiple sclerosis-like lesions. Conclusion: Brain MRIs are negative in most NMO, and brain lesions do not exclude the diagnosis of NMO. Hypothalamus, brainstem or periventricle lesions, corresponding to high sites of AQP-4 in the brain, are indicative of lesions of NMO.

  8. Ocular vestibular evoked myogenic potentials are abnormal in internuclear ophthalmoplegia.

    Science.gov (United States)

    Rosengren, S M; Colebatch, J G

    2011-06-01

    The cervical vestibular evoked myogenic potential (cVEMP) is sensitive to lower brainstem lesions affecting the vestibulo-collic pathway. We wished to determine whether the ocular VEMP (oVEMP), a recently-described otolith-ocular reflex, is also abnormal in patients with brainstem lesions. We tested patients with internuclear ophthalmoplegia (INO), caused by a brainstem lesion in the medial longitudinal fasciculus (MLF), to investigate whether the oVEMP is abnormal in patients with a lesion of the otolith-ocular pathway. We describe a patient who developed a right INO during his first episode of demyelination, and report results from 12 additional patients, most of whom had multiple sclerosis. All subjects were stimulated with air-conducted tone bursts. cVEMPs and oVEMPs were measured using surface electrodes placed over the neck and beneath the eyes. Overall, oVEMPs showed significantly more abnormalities (69%) than cVEMPs (8%). Ocular VEMPs were absent with stimulation of 13/26 ears, significantly delayed in 5/26 cases and normal in only 8/26 cases. Ocular VEMPs are often abnormal in patients with multiple sclerosis who have an INO, while cVEMPs are usually normal. Ocular VEMPs provide a new, non-invasive method for examining central vestibular pathways in humans and are sensitive to lesions of the MLF. Copyright © 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  9. Multiple Pregnancy

    Science.gov (United States)

    ... Education & Events Advocacy For Patients About ACOG Multiple Pregnancy Home For Patients Search FAQs Multiple Pregnancy Page ... Multiple Pregnancy FAQ188, July 2015 PDF Format Multiple Pregnancy Pregnancy How does multiple pregnancy occur? What are ...

  10. Low-set ears and pinna abnormalities

    Science.gov (United States)

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect-pinna; Congenital defect-pinna ... conditions: Abnormal folds or location of the pinna Low-set ears No opening to the ear canal ...

  11. Relationship among sera lipoprotein abnormalities in healthy ...

    African Journals Online (AJOL)

    Relationship among sera lipoprotein abnormalities in healthy individuals with background of diabetic sibling. ... As the prevalence of lipoprotein abnormalities in adolescents is increasing dramatically, the identification of ... Article Metrics.

  12. Abnormal Cervical Cancer Screening Test Results

    Science.gov (United States)

    ... FREQUENTLY ASKED QUESTIONS FAQ187 GYNECOLOGIC PROBLEMS Abnormal Cervical Cancer Screening Test Results • What is cervical cancer screening? • What causes abnormal cervical cancer screening test results? • ...

  13. [Phenomenology of abnormal body perceptions].

    Science.gov (United States)

    Schäfer, M L

    1983-01-01

    The present paper deals with the problematic nature of the phenomenological grasping of the consciousness of the body and its pathological modifications. The reasoning is oriented by the doctrine of Husserl of the so-called sentiments as the fundamentals of the experience of the own body. This basic approach does not only seem to be basically for a psychology of the consciousness of the body, but also to give the theoretical-conceptual structure for a great number of psychopathological modifications. Subsequent to a criticism of the conventional use of the term 'hallucination of the body' we attempt to chart elements of a scheme of the abnormal consciousness of the body.

  14. Foot abnormalities of wild birds

    Science.gov (United States)

    Herman, C.M.; Locke, L.N.; Clark, G.M.

    1962-01-01

    The various foot abnormalities that occur in birds, including pox, scaly-leg, bumble-foot, ergotism and freezing are reviewed. In addition, our findings at the Patuxent Wildlife Research Center include pox from dove, mockingbird, cowbird, grackle and several species of sparrows. Scaly-leg has been particularly prevalent on icterids. Bumble foot has been observed in a whistling swan and in a group of captive woodcock. Ergotism is reported from a series of captive Canada geese from North Dakota. Several drug treatments recommended by others are presented.

  15. Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse A M J; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-03-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.

  16. Multiple sclerosis; Multiple Sklerose

    Energy Technology Data Exchange (ETDEWEB)

    Grunwald, I.Q.; Kuehn, A.L.; Backens, M.; Papanagiotou, P. [Universitaet des Saarlandes, Abteilung fuer Diagnostische und Interventionelle Neuroradiologie, Radiologische Klinik, Homburg/Saar (Germany); Shariat, K. [Universitaet des Saarlandes, Klinik fuer Neurochirurgie, Homburg/Saar (Germany); Kostopoulos, P. [Universitaet des Saarlandes, Klinik fuer Neurologie, Homburg/Saar (Germany)

    2008-06-15

    Multiple sclerosis is the most common chronic inflammatory disease of myelin with interspersed lesions in the white matter of the central nervous system. Magnetic resonance imaging (MRI) plays a key role in the diagnosis and monitoring of white matter diseases. This article focuses on key findings in multiple sclerosis as detected by MRI. (orig.) [German] Die Multiple Sklerose (MS) ist die haeufigste chronisch-entzuendliche Erkrankung des Myelins mit eingesprengten Laesionen im Bereich der weissen Substanz des zentralen Nervensystems. Die Magnetresonanztomographie (MRT) hat bei der Diagnosestellung und Verlaufskontrolle eine Schluesselrolle. Dieser Artikel befasst sich mit Hauptcharakteristika der MR-Bildbebung. (orig.)

  17. On Regularity of Abnormal Subriemannian Geodesics

    CERN Document Server

    Tan, Kanghai

    2012-01-01

    We prove the smoothness of abnormal minimizers of subriemannian manifolds of step 3 with a nilpotent basis. We prove that rank 2 Carnot groups of step 4 admit no strictly abnormal minimizers. For any subriemannian manifolds of step less than 7, we show all abnormal minimizers have no corner type singularities, which partly generalize the main result of Leonardi-Monti.

  18. Abnormal visuomotor processing in schizophrenia

    Directory of Open Access Journals (Sweden)

    Siân E. Robson

    2016-01-01

    Full Text Available Subtle disturbances of visual and motor function are known features of schizophrenia and can greatly impact quality of life; however, few studies investigate these abnormalities using simple visuomotor stimuli. In healthy people, electrophysiological data show that beta band oscillations in sensorimotor cortex decrease during movement execution (event-related beta desynchronisation (ERBD, then increase above baseline for a short time after the movement (post-movement beta rebound (PMBR; whilst in visual cortex, gamma oscillations are increased throughout stimulus presentation. In this study, we used a self-paced visuomotor paradigm and magnetoencephalography (MEG to contrast these responses in patients with schizophrenia and control volunteers. We found significant reductions in the peak-to-peak change in amplitude from ERBD to PMBR in schizophrenia compared with controls. This effect was strongest in patients who made fewer movements, whereas beta was not modulated by movement in controls. There was no significant difference in the amplitude of visual gamma between patients and controls. These data demonstrate that clear abnormalities in basic sensorimotor processing in schizophrenia can be observed using a very simple MEG paradigm.

  19. Chromosomal phenotypes and submicroscopic abnormalities

    Directory of Open Access Journals (Sweden)

    Devriendt Koen

    2004-01-01

    Full Text Available Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

  20. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Directory of Open Access Journals (Sweden)

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

  1. Evoked potentials in multiple sclerosis.

    Science.gov (United States)

    Kraft, George H

    2013-11-01

    Before the development of magnetic resonance imaging (MRI), evoked potentials (EPs)-visual evoked potentials, somatosensory evoked potentials, and brain stem auditory evoked responses-were commonly used to determine a second site of disease in patients being evaluated for possible multiple sclerosis (MS). The identification of an area of the central nervous system showing abnormal conduction was used to supplement the abnormal signs identified on the physical examination-thus identifying the "multiple" in MS. This article is a brief overview of additional ways in which central nervous system (CNS) physiology-as measured by EPs-can still contribute value in the management of MS in the era of MRIs.

  2. Abnormal Returns and Contrarian Strategies

    Directory of Open Access Journals (Sweden)

    Ivana Dall'Agnol

    2003-12-01

    Full Text Available We test the hypothesis that strategies which are long on portfolios of looser stocks and short on portfolios of winner stocks generate abnormal returns in Brazil. This type of evidence for the US stock market was interpreted by The Bondt and Thaler (1985 as reflecting systematic evaluation mistakes caused by investors overreaction to news related to the firm performance. We found evidence of contrarian strategies profitability for horizons from 3 months to 3 years in a sample of stock returns from BOVESPA and SOMA from 1986 to 2000. The strategies are more profitable for shorter horizons. Therefore, there was no trace of the momentum effect found by Jagadeesh and Titman (1993 for the same horizons with US data. There are remaing unexplained positive returns for contrarian strategies after accounting for risk, size, and liquidity. We also found that the strategy profitability is reduced after the Real Plan, which suggests that the Brazilian stock market became more efficient after inflation stabilization.

  3. Structural and diffusional brain abnormality related to relatively low level alcohol consumption.

    Science.gov (United States)

    Sasaki, Hiroki; Abe, Osamu; Yamasue, Hidenori; Fukuda, Rin; Yamada, Haruyasu; Takei, Kunio; Suga, Motomu; Takao, Hidemasa; Kasai, Kiyoto; Aoki, Shigeki; Ohtomo, Kuni

    2009-06-01

    Chronic excessive alcohol intake results in alcohol-related brain damage. Many previous reports have documented alcohol-related global or local brain shrinkage or diffusional abnormalities among alcoholics and heavy to moderate drinkers; however, the influence of relatively low levels of alcohol consumption on brain structural or diffusional abnormality is unclear. We investigated structural or diffusional abnormalities related to lifetime alcohol consumption (LAC) using voxel-based morphometry (VBM) among Japanese non-alcohol-dependent individuals (114 males, 97 females). High-resolution three-dimensional magnetic resonance images and diffusion tensor imaging were acquired in all subjects. The collected images were normalized, segmented, and smoothed using SPM 5. Gray matter volume (GMV) and white matter volume (WMV) were normalized for each total intracranial volume (TIV), and partial correlation coefficients were estimated between normalized GMV or WMV and lifetime alcohol consumption (LAC) adjusted for age. To investigate regional GMV or WMV abnormalities related to LAC, multiple regression analyses were performed among regional GMV or WMV and LAC, age, and TIV. To investigate subtle regional abnormalities, multiple regression analyses were performed among fractional anisotropy (FA) or mean diffusivity (MD), and LAC and age. No LAC-related global or regional GMV or WMV abnormality or LAC-related regional FA abnormality was found among male or female subjects. Significant LAC-related MD increase was found in the right amygdala among female subjects only. The current results suggest female brain vulnerability to alcohol, and a relation between subtle abnormality in the right amygdala and alcohol misuse.

  4. Heterogeneity in the multiple myeloma tumor clone

    NARCIS (Netherlands)

    Guikema, JEJ; Hovenga, S; Vellenga, E; Bos, NA

    2004-01-01

    Multiple Myeloma ( MM) is a plasma cell malignancy which is characterized by a very heterogeneous disease outcome. Heterogeneity in plasma cell characteristics, including morphology, maturation status, immunophenotype and genetic abnormalities partly account for the variable disease outcome. Althoug

  5. Heterogeneity in the multiple myeloma tumor clone

    NARCIS (Netherlands)

    Guikema, JEJ; Hovenga, S; Vellenga, E; Bos, NA

    Multiple Myeloma ( MM) is a plasma cell malignancy which is characterized by a very heterogeneous disease outcome. Heterogeneity in plasma cell characteristics, including morphology, maturation status, immunophenotype and genetic abnormalities partly account for the variable disease outcome.

  6. Anestesia para paciente portadora de múltiplas afecções endócrinas: relato de caso Anestesia para paciente portadora de múltiples afecciones endocrinas: relato de caso Anesthesia in a patient with multiple endocrine abnormalities: case report

    Directory of Open Access Journals (Sweden)

    Renato Toledo Maciel

    2008-04-01

    ó episodios de hipoglicemia, que motivaron su reoperación. CONCLUSIONES: La singularidad del caso está en la conjunción de las múltiples endocrinopatías y de particularidades del manoseo quirúrgico-anestésico. La exéresis del insulinoma debe ser monitoreada en el intraoperatorio para que se eviten resecciones incompletas del tumor. La multiplicidad de los desafíos en un solo paciente exige del anestesiólogo el conocimiento de cada obstáculo y sus interacciones, trazando estrategias para solucionarlos.BACKGROUND AND OBJECTIVES: Insulinoma is the most common pancreatic endocrine tumor and it can be associated with multiple endocrine neoplasia (MEN. This is a report on a patient with multiple endocrine abnormalities, who did not fulfill the criteria of known syndromes (MEN and the clinical-anesthetic particularities that influenced the anesthetic management. CASE REPORT: A 23-year old female patient with episodes of hypoglycemia difficult to control, associated with Cushing's disease and prolactinoma without symptoms of pituitary compression and with normal thyroid and parathyroid. Investigation found a retroperitoneal mass of unknown origin which in face of the clinical presentation raised the hypothesis of insulinoma. The patient also referred to be a Jehovah's Witness. Biopsy of the mass by videolaparoscopy and enucleation of the insulinoma were proposed. On physical exam the patient was overweight, had protruding teeth, she was classified as Mallampati 3 and had symptoms of sleep apnea. Laboratorial exams revealed hematocrit 58%. Pre-anesthetic medication consisted of oral midazolam (7.5 mg and clonidine (200 µg. Fentanyl (150 µg, clonidine (90 µg, propofol (150 mg and pancuronium (8 mg were used for anesthetic induction and she was intubated without intercurrences. Central venous access and invasive blood monitoring were instituted. Intravenous infusion of D5W with electrolytes was instituted and capillary glucose levels were monitored every 30 minutes, which

  7. Coagulation abnormalities in the cirrhotic patient.

    Science.gov (United States)

    Muciño-Bermejo, Jimena; Carrillo-Esper, Raúl; Uribe, Misael; Méndez-Sánchez, Nahum

    2013-01-01

    The clotting process is a dynamic array of multiple processes which can be described in four phases: platelet plug initiation and formation, clotting process propagation by the coagulation cascade, clotting termination by antithrombotic mechanisms and clot removal by fibrinolysis. The liver plays a central role in each of these phases of clotting process, as it synthesizes the majority of coagulation factors and proteins involved in fibrinolysis as well as thrombopoeitin, which is responsible for platelet production from megakaryocytes. Many pathological processes associated with cirrhosis, such as portal hypertension and endothelial dysfunction, as well as co-morbid conditions, may also alter the coagulation process. Consequently, patients with liver disease have a disturbed balance of procoagulant and anti-coagulant factors which deviates from the normal coagulation cascade. This situation poses an additional problem in the diagnostic and therapeutic approach to this group of patients, since traditional coagulation test may not be reliable for assessing bleeding or thrombotic risk and traditional transfusional strategies may not be applicable in cirrhotic patients. In this article, we review the pathophysiological bases of coagulation abnormalities, in cirrhotic patients, the diagnostic therapeutic strategies to be followed and its impact on the clinical outcome in the cirrhotic patient.

  8. Gray matter volumetric abnormalities associated with the onset of psychosis

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    Wi Hoon eJung

    2012-12-01

    Full Text Available Patients with psychosis display structural brain abnormalities in multiple brain regions. The disorder is characterized by a putative prodromal period called ultra-high-risk (UHR status, which precedes the onset of full-blown psychotic symptoms. Recent studies on psychosis have focused on this period. Neuroimaging studies of UHR individuals for psychosis have revealed that the structural brain changes observed during the established phases of the disorder are already evident prior to the onset of the illness. Moreover, certain brain regions show extremely dynamic changes during the transition to psychosis. These neurobiological features may be used as prognostic and predictive biomarkers for psychosis. With advances in neuroimaging techniques, neuroimaging studies focusing on gray matter abnormalities provide new insights into the pathophysiology of psychosis, as well as new treatment strategies. Some of these novel approaches involve antioxidants administration, because it is suggested that this treatment may delay the progression of UHR to a full-blown psychosis and prevent progressive structural changes. The present review includes an update on the most recent developments in early intervention strategies for psychosis and potential therapeutic treatments for schizophrenia. First, we provide the basic knowledge of the brain regions associated with structural abnormalities in individuals at UHR. Next, we discuss the feasibility on the use of magnetic resonance imaging (MRI-biomarkers in clinical practice. Then, we describe potential etiopathological mechanisms underlying structural brain abnormalities in prodromal psychosis. Finally, we discuss the potentials and limitations related to neuroimaging studies in individuals at UHR.

  9. Biochemical abnormalities in Pearson syndrome.

    Science.gov (United States)

    Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola

    2015-03-01

    Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders.

  10. Semen abnormalities with SSRI antidepressants.

    Science.gov (United States)

    2015-01-01

    Despite decades of widespread use, the adverse effect profile of "selective" serotonin reuptake inhibitor (SSRI) antidepressants has still not been fully elucidated. Studies in male animals have shown delayed sexual development and reduced fertility. Three prospective cohort studies conducted in over one hundred patients exposed to an SSRI for periods ranging from 5 weeks to 24 months found altered semen param-eters after as little as 3 months of exposure: reduced sperm concentration, reduced sperm motility, a higher percentage of abnormal spermatozoa, and increased levels of sperm DNA fragmentation. One clinical trial showed growth retardation in children considered depressed who were exposed to SSRls. SSRls may have endocrine disrupting properties. Dapoxetine is a short-acting serotonin reuptake inhibitor that is chemically related to fluoxetine and marketed in the European Union for men complaining of premature ejaculation. But the corresponding European summary of product characteristics does not mention any effects on fertility. In practice, based on the data available as of mid-2014, the effects of SSRI exposure on male fertility are unclear. However, it is a risk that should be taken into account and pointed out to male patients who would like to father a child or who are experiencing fertility problems.

  11. Hemostatic abnormalities in liver cirrhosis

    Directory of Open Access Journals (Sweden)

    Kendal YALÇIN

    2009-06-01

    Full Text Available In this study, 44 patients with liver cirrhosis were investigated for hemostatic parameters. Patients with spontaneous bacterial peritonitis, hepatocellular carcinoma, hepatorenal syndrome and cholestatic liver diseases were excluded. Patients were classified by Child-Pugh criterion and according to this 4 patients were in Class A, 20 in Class B and 20 in C. Regarding to these results, it was aimed to investigate the haematological disturbances in liver cirrhotic patients.In the result there was a correlation between activated partial thromboplastin time, serum iron, ferritin, transferrin, haptoglobin and Child-Pugh classification. Besides there was no correlation between prothrombin time, factor 8 and 9, protein C and S, anti-thrombin 3, fibrinogen, fibrin degradation products, serum iron binding capacity, hemoglobin, leukocyte, mean corpuscular volume and Child-Pugh classification.There were significant difference, in terms of AST, ferritin, haptoglobulin, sex and presence of ascites between groups (p0.05. In the summary, we have found correlation between hemostatic abnormalities and disease activity and clinical prognosis in patients with liver cirrhosis which is important in the management of these patients. This is also important for identification of liver transplant candidiates earlier.

  12. Reversible meiotic abnormalities in azoospermic men with bilateral varicocele after microsurgical correction.

    Science.gov (United States)

    North, M O; Lellei, I; Rives, N; Erdei, E; Dittmar, A; Barbet, J P; Tritto, G

    2004-05-01

    Because of a possible relationship between microenvironmental disturbances and meiotic abnormalities and of a straight relationship between lower-quality semen in patient carrying a varicocele and first meiotic non-disjunction, bilateral bipolar testicular biopsies are realized according the thermic differential gradient described in varicocele. Systematic meiotic studies of multiple testicular biopsies from 65 azoospermic men with bilateral varicocele were done in a multi-centric study on microsurgical correction of bilateral varicocele with microthermic intra-operative evaluation using minimally invasive thermal microsensors (Betatherm 10K3MCD2). In the present study abnormal temperature raising, histomorphometric abnormalities (spermatocyte arrest) and meiotic abnormalities (class IIC) are strongly correlated. In the ten patients submitted to another testicular biopsy procedure six months after surgery for TESE, normal thermal differential is registered and no meiotic abnormalities recurrences are found.

  13. Cerebral abnormalities in adults with ataxia-telangiectasia.

    Science.gov (United States)

    Lin, D D M; Barker, P B; Lederman, H M; Crawford, T O

    2014-01-01

    Ataxia-telangiectasia, an autosomal recessive disorder caused by defect of the ataxia-telangiectasia mutated gene, is characterized by progressive neurologic impairment with cerebellar atrophy, ocular and cutaneous telangiectasia, immunodeficiency, heightened sensitivity to ionizing radiation and susceptibility to developing lymphoreticular malignancy. Supratentorial brain abnormalities have been reported only rarely. In this study, brain MRI was performed in 10 adults with ataxia-telangiectasia having stable neurologic impairment. Intracerebral telangiectasia with multiple punctate hemosiderin deposits were identified in 60% of subjects. These lesions were apparently asymptomatic. They are similar in appearance to radiation-induced telangiectasia and to cryptogenic vascular malformations. Also noted, in the 2 oldest subjects, was extensive white matter T2 hyperintensity, and in 1 of these a space-occupying fluid collection consistent with transudative capillary leak and edema as evidenced by reduced levels of metabolites on MR spectroscopic imaging. Asymptomatic supratentorial vascular abnormalities appear to be common in adults with ataxia-telangiectasia.

  14. The Real Culprit in Systemic Lupus Erythematosus: Abnormal Epigenetic Regulation

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    Haijing Wu

    2015-05-01

    Full Text Available Systemic lupus erythematosus (SLE is an autoimmune disease involving multiple organs and the presence of anti-nuclear antibodies. The pathogenesis of SLE has been intensively studied but remains far from clear. B and T lymphocyte abnormalities, dysregulation of apoptosis, defects in the clearance of apoptotic materials, and various genetic and epigenetic factors are attributed to the development of SLE. The latest research findings point to the association between abnormal epigenetic regulation and SLE, which has attracted considerable interest worldwide. It is the purpose of this review to present and discuss the relationship between aberrant epigenetic regulation and SLE, including DNA methylation, histone modifications and microRNAs in patients with SLE, the possible mechanisms of immune dysfunction caused by epigenetic changes, and to better understand the roles of aberrant epigenetic regulation in the initiation and development of SLE and to provide an insight into the related therapeutic options in SLE.

  15. Altered fetal growth, placental abnormalities, and stillbirth.

    Science.gov (United States)

    Bukowski, Radek; Hansen, Nellie I; Pinar, Halit; Willinger, Marian; Reddy, Uma M; Parker, Corette B; Silver, Robert M; Dudley, Donald J; Stoll, Barbara J; Saade, George R; Koch, Matthew A; Hogue, Carol; Varner, Michael W; Conway, Deborah L; Coustan, Donald; Goldenberg, Robert L

    2017-01-01

    Worldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth. The aim of this study was to identify patterns of association between placental abnormalities, fetal growth, and stillbirth. Population-based case-control study of all stillbirths and a representative sample of live births in 59 hospitals in 5 geographic areas in the U.S. Fetal growth abnormalities were categorized as small (90th percentile) for gestational age at death (stillbirth) or delivery (live birth) using a published algorithm. Placental examination by perinatal pathologists was performed using a standardized protocol. Data were weighted to account for the sampling design. Among 319 singleton stillbirths and 1119 singleton live births at ≥24 weeks at death or delivery respectively, 25 placental findings were investigated. Fifteen findings were significantly associated with stillbirth. Ten of the 15 were also associated with fetal growth abnormalities (single umbilical artery; velamentous insertion; terminal villous immaturity; retroplacental hematoma; parenchymal infarction; intraparenchymal thrombus; avascular villi; placental edema; placental weight; ratio birth weight/placental weight) while 5 of the 15 associated with stillbirth were not associated with fetal growth abnormalities (acute chorioamnionitis of placental membranes; acute chorioamionitis of chorionic plate; chorionic plate vascular degenerative changes; perivillous, intervillous fibrin, fibrinoid deposition; fetal vascular thrombi in the chorionic plate). Five patterns were observed: placental findings associated with (1) stillbirth but not fetal growth abnormalities; (2) fetal growth abnormalities in stillbirths only; (3) fetal growth abnormalities in live births only; (4) fetal growth abnormalities in stillbirths and live births in a similar manner; (5) a different pattern of fetal growth abnormalities in

  16. [Renal abnormalities in ankylosing spondylitis].

    Science.gov (United States)

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease. Copyright © 2011 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  17. Platelet enzyme abnormalities in leukemias

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    S Sharma

    2011-01-01

    Full Text Available Aim of the Study: The aim of this study was to evaluate platelet enzyme activity in cases of leukemia. Materials and Methods: Platelet enzymes glucose-6-phosphate dehydrogenase (G6PD, pyruvate kinase (PK and hexokinase (HK were studied in 47 patients of acute and chronic leukemia patients, 16 patients with acute myeloid leukemia (AML(13 relapse, three in remission, 12 patients with acute lymphocytic leukemia (ALL (five in relapse, seven in remission, 19 patients with chronic myeloid leukemia (CML. Results: The platelet G6PD activity was significantly low in cases of AML, ALL and also in CML. G6PD activity was normalized during AML remission. G6PD activity, although persistently low during ALL remission, increased significantly to near-normal during remission (P < 0.05 as compared with relapse (P < 0.01. Platelet PK activity was high during AML relapse (P < 0.05, which was normalized during remission. Platelet HK however was found to be decreased during all remission (P < 0.05. There was a significant positive correlation between G6PD and PK in cases of AML (P < 0.001 but not in ALL and CML. G6PD activity did not correlate with HK activity in any of the leukemic groups. A significant positive correlation was however seen between PK and HK activity in cases of ALL remission (P < 0.01 and CML (P < 0.05. Conclusions: Both red cell and platelet enzymes were studied in 36 leukemic patients and there was no statistically significant correlation between red cell and platelet enzymes. Platelet enzyme defect in leukemias suggests the inherent abnormality in megakaryopoiesis and would explain the functional platelet defects in leukemias.

  18. Frequency of choroidal abnormalities in neurofibromatosis type 1.

    Science.gov (United States)

    Yasunari, T; Shiraki, K; Hattori, H; Miki, T

    2000-09-16

    Choroidal neurofibromatosis is thought to be a rare form of neurofibromatosis that involves the eyes. The development of infrared light examination with a scanning laser ophthalmoscope (SLO) and indocyanine-green fundus angiography has allowed examination of the choroid. We studied choroidal abnormalities in patients with neurofibromatosis 1 and compared their frequency with that of other ocular abnormalities. We examined 33 eyes of 17 consecutive patients diagnosed with neurofibromatosis 1 by conventional ophthalmoscopy and by non-invasive infrared monochromatic light with confocal SLO. 76 eyes of 39 age-matched controls were examined similarly by confocal SLO. 21 digital fluorescein and indocyanine-green angiographies were obtained from 11 adult patients, and 77 angiograms were obtained from age-matched controls. Infrared monochromatic light examination by confocal SLO showed bright multiple patchy regions at and around the entire posterior pole of all 33 eyes examined. All bright patchy regions seen in adult patients corresponded to hypofluorescent areas on their indocyanine-green angiograms. However, no abnormalities were noted in any patient at corresponding areas under conventional ophthalmoscopic examination or fluorescein angiography. In SLO and indocyanine-green studies, controls and control angiograms showed no choroidal abnormalities. Iris nodules were noted in 25 eyes (76%) of 14 patients (82%) and eyelid neurofibroma in five patients (29%). The bright patchy regions noted under infrared fundus examination and the corresponding hypofluorescent areas seen on indocyanine-green angiograms are probably of choroidal origin. The high frequency (100%) of these abnormalities suggests that the choroid is one of the structures most commonly affected by neurofibromatosis 1.

  19. Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome.

    Science.gov (United States)

    Vootla, Vamshidhar R; Daniel, Myrta

    2015-01-01

    Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome.

  20. Abnormal Liver Function Tests in an Anorexia Nervosa Patient and an Atypical Manifestation of Refeeding Syndrome

    Directory of Open Access Journals (Sweden)

    Vamshidhar R. Vootla

    2015-07-01

    Full Text Available Refeeding syndrome is defined as electrolyte and fluid abnormalities that occur in significantly malnourished patients when they are refed orally, enterally, or parenterally. The principal manifestations include hypophosphatemia, hypokalemia, vitamin deficiencies, volume overload and edema. This can affect multiple organ systems, such as the cardiovascular, pulmonary, or neurological systems, secondary to the above-mentioned abnormalities. Rarely, patients may develop gastrointestinal symptoms and show abnormal liver function test results. We report the case of a 52-year-old woman with anorexia nervosa who developed refeeding syndrome and simultaneous elevations of liver function test results, which normalized upon the resolution of the refeeding syndrome.

  1. Impact of Phase II cardiac rehabilitation on abnormal heart rate recovery

    Directory of Open Access Journals (Sweden)

    Chen-Liang Chou

    2014-09-01

    Conclusion: There are multiple factors of cardiopulmonary exercise tests that cannot be used to predict the effect of Phase II CR on the improvement of abnormal HRR. Forty-one percent of patients with abnormal HRR could improve after Phase II CR, but all of the patients could have improved exercise capacity regardless of whether or not HRR improved. We can conclude that HRR and exercise capacity change independently. However, it is important to closely follow-up during Phase III CR for patients with persistently abnormal HRR after Phase II CR has been completed.

  2. Multiple Sclerosis

    Science.gov (United States)

    ... for changes in eye movements, muscle coordination, weakness, balance, sensation, speech, and reflexes. Spinal tap (lumbar puncture). A small amount of fluid taken from your spine can show abnormal amounts of blood cells or ...

  3. Abnormal Raman spectral phenomenon of silicon nanowires

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    The Raman spectra of two one-dimensional silicon nanowire samples with different excitation wavelengths were measured and an abnormal phenomenon was discovered that the Raman spectral features change with the wavelengths of excitation. Closer analysis of the crystalline structure of samples and the changes in Raman spectral features showed that the abnormal behavior is the result of resonance Raman scattering selection effect.

  4. An Abnormal Vibrational Mode of Torsion Pendulum

    Institute of Scientific and Technical Information of China (English)

    赵亮; 涂英; 顾邦明; 胡忠坤; 罗俊

    2003-01-01

    In the experiment for the determination of the gravitational constant G, we found an abnormal vibrational mode of the torsion pendulum. The abnormal mode disappeared as a magnetic damper was introduced to the torsion pendulum system. Our experimental results also show that the magnetic damper can be used to suppress the high frequency vibrational noises to torsion pendulums effectively.

  5. Nail abnormalities in patients with vitiligo*

    Science.gov (United States)

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Background Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. Methods This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Results Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). Conclusions Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study. PMID:27579738

  6. An Abnormal Psychology Community Based Interview Assignment

    Science.gov (United States)

    White, Geoffry D.

    1977-01-01

    A course option in abnormal psychology involves students in interviewing and observing the activities of individuals in the off-campus community who are concerned with some aspect of abnormal psychology. The technique generates student interest in the field when they interview people about topics such as drug abuse, transsexualism, and abuse of…

  7. [CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH INFERTILITY].

    Science.gov (United States)

    Pylyp, L Y; Spinenko, L O; Verhoglyad, N V; Kashevarova, O O; Zukin, V D

    2015-01-01

    To assess the frequency and structure of chromosomal abnormalities in patients with infertility, a retrospective analysis of cytogenetic studies of 3414 patients (1741 females and 1673 males), referred to the Clinic of reproductive medicine "Nadiya" from 2007 to 2012, was performed. Chromosomal abnormalities were detected in 2.37% patients: 2.79% in males and 1.95% in females. Balanced structural chromosomal abnormalities prevailed over numerical abnormalities and corresponded to 80.2% of all chromosomal abnormalities detected in the studied group. Sex chromosome abnormalities made up 23.5% of chromosomal pathology (19/81) and included gonosomal aneuploidies in 84% of cases (16/19) and structural abnormalities of chromosome Y in 16% of cases (3/19). The low level sex chromosome mosaicism was detected with the frequency of 0.55%. Our results highlight the importance of cytogenetic studies in patients seeking infertility treatment by assisted reproductive technologies, since an abnormal finding not only provide a firm diagnosis to couples with infertility, but also influences significantly the approach to infertility treatment in such patients.

  8. Early Blood Gas Abnormalities and the Preterm Brain

    Science.gov (United States)

    Leviton, Alan; Allred, Elizabeth; Kuban, Karl C. K.; Dammann, Olaf; O'Shea, T. Michael; Hirtz, Deborah; Schreiber, Michael D.; Paneth, Nigel

    2010-01-01

    The authors explored associations between blood gas abnormalities in more than 1,000 preterm infants during the first postnatal days and indicators of neonatal brain damage. During 2002–2004, women delivering infants before 28 weeks’ gestation at one of 14 participating institutions in 5 US states were asked to enroll in the study. The authors compared infants with blood gas values in the highest or lowest quintile for gestational age and postnatal day (extreme value) on at least 1 of the first 3 postnatal days with the remainder of the subjects, with separate analyses for blood gas abnormalities on multiple days and for partial pressure of oxygen in the alveolar gas of blood gas derangement (hypoxemia, hyperoxemia, hypocapnia, hypercapnia, and acidosis) was associated with multiple indicators of brain damage. However, for some, the associations were seen with only 1 day of exposure; others were evident with 2 or more days’ exposure. Findings suggest that individual blood gas derangements do not increase brain damage risk. Rather, the multiple derangements associated with indicators of brain damage might be indicators of immaturity/vulnerability and illness severity. PMID:20807736

  9. Endocrine abnormalities in dilated cardiomyopathy

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    Ankit Jain

    2015-01-01

    Full Text Available Background: Progress has been made in the understanding of cellular and molecular mechanisms of hormone action and its effects on the cardiac tissue. There is evidence from observational studies that patients with postpartum cardiomyopathy improve after inhibition of release of prolactin from the pituitary by bromocriptine. This has renewed interest in the role of hormones in the pathogenesis of cardiomyopathy, especially in women. We intended to assess the hormonal changes in female patients with dilated cardiomyopathy (DCM. Methods: Twenty female patients aged 20-40 years old (mean age 29 ΁ 5.6 years with a diagnosis of idiopathic DCMP with left ventricular ejection fraction [EF] <35% and a stable clinical course in the last 3 months were included in the study. All the patients were in New York Heart Association (NYHA Class II or III. All the patients underwent clinical evaluation followed by blood sampling for hormonal analysis. Blood was taken after overnight fasting and analyzed for thyroid stimulating hormone (TSH, T3, T4, insulin-like growth factor I (IGF-I, prolactin, insulin, parathyroid hormone (PTH, and 25 (OH Vitamin D. The results were compared with twenty age and sex matched controls. Results: The mean EF of the twenty patients was 24.4 ΁ 5.3% and duration of symptoms was 29.1 ΁ 24 months. Insulin growth factor 1 levels were significantly lower than normal. Fifty percent of the patients had levels lower than normal, but there was no correlation of IGF-I with NYHA class and EF. Testing of the thyroid hormones revealed that TSH levels were similar between patient and controls though 40% of the patients had elevated TSH levels. Of these patients, 5% (1 had hypothyroid. In addition to this, 10% (2 had isolated low T3, suggestive of the low T3 syndrome. None of the thyroid abnormalities showed a correlation with NYHA class or EF. All other hormone concentrations were comparable in both groups. Conclusion: In this cohort of female

  10. Fertilization and embryo quality of mature oocytes with specific morphological abnormalities.

    Science.gov (United States)

    Yu, Eun Jeong; Ahn, Hyojeong; Lee, Jang Mi; Jee, Byung Chul; Kim, Seok Hyun

    2015-12-01

    To investigate fertilization and embryo quality of dysmorphic mature oocytes with specific morphological abnormalities obtained from intracytoplasmic sperm injection (ICSI). The fertilization rate (FR) and embryo quality were compared among 58 dysmorphic and 42 normal form oocytes (control 1) obtained from 35 consecutive ICSI cycles, each of which yielded at least one dysmorphic mature oocyte, performed over a period of 5 years. The FR and embryo quality of 441 normal form oocytes from another 119 ICSI cycles that did not involve dysmorphic oocytes served as control 2. Dysmorphic oocytes were classified as having a dark cytoplasm, cytoplasmic granularity, cytoplasmic vacuoles, refractile bodies in the cytoplasm, smooth endoplasmic reticulum in the cytoplasm, an oval shape, an abnormal zona pellucida, a large perivitelline space, debris in the perivitelline space, or an abnormal polar body (PB). The overall FR was significantly lower in dysmorphic oocytes than in normal form oocytes in both the control 1 and control 2 groups. However, embryo quality in the dysmorphic oocyte group and the normal form oocyte groups at day 3 was similar. The FR and embryo quality were similar in the oocyte groups with a single abnormality and multiple abnormalities. Specific abnormalities related with a higher percentage of top-quality embryos were dark cytoplasm (66.7%), abnormal PB (50%), and cytoplasmic vacuoles (25%). The fertilization potential of dysmorphic oocytes in our study was lower, but their subsequent embryonic development and embryo quality was relatively good. We were able to define several specific abnormalities related with good or poor embryo quality.

  11. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  12. 间期荧光原位杂交技术检测多发性骨髓瘤基因组异常的临床意义%Detection of genomic abnormalities by interphase fluorescence in situ hybridization in multiple myeloma

    Institute of Scientific and Technical Information of China (English)

    米瑞华; 胡杰英; 尹青松; 魏旭东; 宋永平

    2011-01-01

    目的 探讨I-FISH技术检测MM基因组异常的临床意义.方法 应用CC技术(常规R显带)和I-FISH技术[包括GLP13q14(RB1基因)、GLP17p13.1(P53基因)、GLP13q14.3(D13S319)、GLP1q21及GLP14q32(IgH基因)DNA序列探针]分别对20例初治的MM患者(按Bataille分期,Ⅰ期7例、Ⅱ期5例、Ⅲ期8例)进行基因组检测;比较两种方法对MM染色体和基因组异常的检出率;并分析基因组异常与Bataille分期的关系.结果 CC技术从20例MM患者中检出1例[5%(1/20)]染色体异常,且为复杂核型--46,XX,-2,del(3)(p21),add(6)(q26),der(10)(q26),der(14)(32),+mar,inc[6].I-FISH检出12例[60%(12/20)]基因组异常,其中基因组异常发生频率在RB1、D13S319和P53均为30%(6/20),IgH和1q21均为20%(4/20);经配对χ2检验,I-FISH的检出率高于CC技术(χ2=9.09,P=0.001).在20例MM患者中,RB1基因异常的6例,Ⅰ期占1/20,Ⅱ期占1/20,Ⅲ期占4/20;D13S319异常的6例,Ⅰ期占2/20,Ⅱ期占1/20,Ⅲ期占3/20;P53基因异常的6例,Ⅰ期占2/20,Ⅲ期占4/20;1q21异常的4例,Ⅰ期和Ⅲ期占2/20;IgH基因异常的4例,Ⅰ期占1/20,Ⅲ期占3/20.结论 I-FISH对MM患者基因组异常检出率较高,其可检出不同Bataille分期的MM患者.%Objective To investigate the clinical significance of I-FISH for detection of genomic abnormalities in MM. Methods Twenty newly diagnosed MM patients(seven cases at stage Ⅰ , five cases at stage Ⅱ and eight cases at stage Ⅲ according to Bataille staging) were analyzed by combining the technique of CC (R-binding stain) and I-FISH [ including GLP13q14 (RBI gene), GLP17p13. 1 (P53 gene),GLP13q14. 3(D13S319) ,GLP1q21 ,GLP14q32(IgH gene) DNA sequence probes]. These two methods were compared for the detection rates of chromosomal and genomic abnormalities in MM and the association between genomic abnormalities and Bataille stages was also analyzed. Results CC examination showed only 1 case [5% (1/20) ] was found complex chromosomal abnormalities--46,XX,-2,del(3) (p21

  13. Abnormal Event Detection Using Local Sparse Representation

    DEFF Research Database (Denmark)

    Ren, Huamin; Moeslund, Thomas B.

    2014-01-01

    We propose to detect abnormal events via a sparse subspace clustering algorithm. Unlike most existing approaches, which search for optimized normal bases and detect abnormality based on least square error or reconstruction error from the learned normal patterns, we propose an abnormality measurem...... is found that satisfies: the distance between its local space and the normal space is large. We evaluate our method on two public benchmark datasets: UCSD and Subway Entrance datasets. The comparison to the state-of-the-art methods validate our method's effectiveness....

  14. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  15. Amphibian abnormalities on National Wildlife Refuges

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This fact sheet outlines a study done to 1) find the percentage of abnormal frogs and toads on the nation’s National Wildlife Refuges and 2) determine how the...

  16. On two abnormal sharks from Gujarat

    Digital Repository Service at National Institute of Oceanography (India)

    Gopalan, U.K.

    The description of the two abnormal sharks, Carchariaswalbeehmi and Eulamia dussumieri collected from Gujarat, India, is given Of these C walbeehmi was double-headed The other shark E dussumieri had thumb snouted albino...

  17. immunological arthritis Prevalence of biochemical and abnormalities ...

    African Journals Online (AJOL)

    1991-02-02

    Feb 2, 1991 ... immunological abnormalities noted were a positive rheumatoid factor (78,9%), positive ... Rheumatoid arthritis (RA) is a systemic disease characterised by the occurrence of articular and ..... treatment. Br Med] 1982; 285: ...

  18. The glycometabolism abnormality among schizophrenia patients

    Institute of Scientific and Technical Information of China (English)

    吴小立

    2013-01-01

    Objective To explore the potential glycometabolism abnormality and the related factors of schizophrenia patients in China. Methods This cross-sectional study included 44 healthy controls(group 1) and 178 inpatient

  19. Ocular abnormalities in multi-transfused beta-thalassemia patients

    Directory of Open Access Journals (Sweden)

    Reza Jafari

    2015-01-01

    Full Text Available Aims: The aim of this study was to assess ocular changes in thalassemia patients who have received multiple transfusions and chelate binding therapy in order to avoid iron accumulation. Settings and Design: A cross-sectional study. Subjects and Methods: A total of 54 thalassemia major patients were selected as case group, and 54 age- and sex-matched healthy subjects were regarded as a control group. Ocular examination included visual acuity, refraction testing, slit lamp examination, funduscopy, tonometry, perimetry, tear break-up time test, and color vision testing were performed for all the participants. We computed the frequency and duration of blood transfusion, the mean serum ferritin level, pretransfusion hemoglobin concentration, and type, duration, and daily dose of chelation therapy for thalassemia patients based on their records. Statistical Analysis Used: All data analysis was performed using SPSS, version 19. Results: All the thalassemic patients were asymptomatic, but abnormal ocular findings (dry eye (33.3%, cataract (10.2%, retinal pigment epithelium degeneration (16.7%, color vision deficiency (3.7%, and visual field defects (33.7% were seen in 68.5% of thalassemic group. The prevalence of ocular abnormalities in normal group was 19.4%, which was significantly lower than that in thalassemia patients (P = 0.000. No significant correlation was found between ocular abnormalities and mean serum ferritin level (P = 0.627 and mean hemoglobin concentration (P = 0.143. Correlation of number of blood transfusion with the presence of ocular abnormalities was found to be statistically significant (P = 0.005. Conclusions: As life expectancy for beta-thalassemia patients extends, regular ophthalmological evaluation to detect early changes in their ocular system is recommended.

  20. Basilar artery migraine and reversible imaging abnormalities.

    Science.gov (United States)

    Maytal, J; Libman, R B; Lustrin, E S

    1998-01-01

    We report a case of a basilar artery migraine in a 17-year-old boy with transient CT and MR abnormalities after each of two migraine episodes. A repeat MR study 6 months after the last event showed complete resolution of the lesion. Transient abnormalities on brain images similar to those shown in our case have been reported in patients with migraine and other neurologic conditions and are most likely related to cerebral vasogenic edema.

  1. Abnormal Chromosome Segregation May Trigger Tumors

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    @@ Cancer is a primary threat to human health as it kills millions of people each year.Scientists have shown that 75% of human cancers have an abnormal number of chromosomes in cells,and the proportion of the cells with an abnormal chromosome number is tightly and positively related to malignance progression and metastasis of cancers. But the pathological mechanism behind the anomaly still remains unknown.

  2. Abnormal Asymmetry of Brain Connectivity in Schizophrenia

    OpenAIRE

    Ribolsi, Michele; Zafiris J Daskalakis; Siracusano, Alberto; Koch, Giacomo

    2014-01-01

    Recently, a growing body of data has revealed that beyond a dysfunction of connectivity among different brain areas in schizophrenia patients (SCZ), there is also an abnormal asymmetry of functional connectivity compared with healthy subjects. The loss of the cerebral torque and the abnormalities of gyrification, with an increased or more complex cortical folding in the right hemisphere may provide an anatomical basis for such aberrant connectivity in SCZ. Furthermore, diffusion tensor imagin...

  3. Heterotaxy syndromes and abnormal bowel rotation

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [Stanford University, Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States); Koppolu, Raji; Sylvester, Karl [Lucile Packard Children' s Hospital at Stanford, Department of Surgery, Stanford, CA (United States); Murphy, Daniel [Lucile Packard Children' s Hospital at Stanford, Department of Cardiology, Stanford, CA (United States)

    2014-05-15

    Bowel rotation abnormalities in heterotaxy are common. As more children survive cardiac surgery, the management of gastrointestinal abnormalities has become controversial. To evaluate imaging of malrotation in heterotaxy with surgical correlation and provide an algorithm for management. Imaging reports of heterotaxic children with upper gastrointestinal (UGI) and/or small bowel follow-through (SBFT) were reviewed. Subsequently, fluoroscopic images were re-reviewed in conjunction with CT/MR studies. The original reports and re-reviewed images were compared and correlated with surgical findings. Nineteen of 34 children with heterotaxy underwent UGI, 13/19 also had SBFT. In 15/19 reports, bowel rotation was called abnormal: 11 malrotation, 4 non-rotation, no cases of volvulus. Re-review, including CT (10/19) and MR (2/19), designated 17/19 (90%) as abnormal, 10 malrotation (abnormal bowel arrangement, narrow or uncertain length of mesentery) and 7 non-rotation (small bowel and colon on opposite sides plus low cecum with probable broad mesentery). The most useful CT/MR findings were absence of retroperitoneal duodenum in most abnormal cases and location of bowel, especially cecum. Abnormal orientation of mesenteric vessels suggested malrotation but was not universal. Nine children had elective bowel surgery; non-rotation was found in 4/9 and malrotation was found in 5/9, with discrepancies (non-rotation at surgery, malrotation on imaging) with 4 original interpretations and 1 re-review. We recommend routine, early UGI and SBFT studies once other, urgent clinical concerns have been stabilized, with elective laparoscopic surgery in abnormal or equivocal cases. Cross-sectional imaging, usually obtained for other reasons, can contribute diagnostically. Attempting to assess mesenteric width is important in differentiating non-rotation from malrotation and more accurately identifies appropriate surgical candidates. (orig.)

  4. Prevalence of asymptomatic urinary abnormalities among adolescents

    Directory of Open Access Journals (Sweden)

    Mohamed Fouad

    2016-01-01

    Full Text Available To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1% individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8% at the second screening, (P <0.001. Hematuria was the most common urinary abnormalities detected in 245 (9.8% adolescents who had persistent urine abnormalities; 228 (9.1% individuals had non glomerular hematuria. The hematuria was isolated in 150 (6% individuals, combined with leukocyturia in 83 (3.3% individuals, and combined with proteinuria in 12 (0.5% individuals. Leukocyturia was detected in 150 (6% of all studied adolescents; it was isolated in 39 (1.6% individuals and combined with proteinuria in 28 (1.1% of them. Asymp- tomatic bacteriuria was detected in 23 (0.9% of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6% of all the studied adolescents; 45 (1.8% indivi- duals had <0.5 g/day and twenty (0.8% individuals had 0.5-3 g/day. Asymptomatic urinary abnormalities were more common in males than females and adolescents from rural than urban areas (P <0.01 and (P <0.001, respectively. The present study found a high prevalence of asymptomatic urinary abnormalities among adolescents in our population.

  5. Nail abnormalities in patients with vitiligo

    OpenAIRE

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Abstract: Background: Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective: We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the corre...

  6. Low Vital Capacity and Electrocardiographic ST-T Abnormalities in Asymptomatic Adults

    Directory of Open Access Journals (Sweden)

    Kei Nakajima

    2012-01-01

    Full Text Available Studies have shown that low forced vital capacity (LFVC is associated with atherosclerosis. However, it is unclear whether LFVC is associated with resting electrocardiographic ST-T abnormalities, a common finding that is prognostic for cardiovascular events. Therefore, pulmonary functions, ST-T abnormalities defined with Minnesota Code, and cardiometabolic risk factors were examined in a cross-sectional study of 1,653 asymptomatic adults without past history of coronary heart diseases. The prevalence of diabetes, metabolic syndrome, and ST-T abnormalities significantly increased with decreasing percent of predicted forced vital capacity (%PFVC. ST-T abnormalities were observed in 73 subjects (4.4% in total. Multiple logistic regression analysis showed that, compared with the highest quartile of %PFVC (≥99.7%, the lowest quartile of %PFVC (≤84.2% was persistently associated with ST-T abnormalities even after further adjustment for diabetes or metabolic syndrome (odds ratio (95%CI: 2.44 (1.16–5.14 and 2.42 (1.15–5.10, resp.. Similar trends were observed when subjects were divided into quartiles according to percent of predicted forced expiratory volume in 1 second (FEV1, but not the ratio of FEV1/FVC. In conclusion, LFVC may be associated with ST-T abnormalities independent of metabolic abnormalities in asymptomatic adults, suggesting a plausible link between impaired pulmonary defects and cardiovascular diseases.

  7. Multiple Sclerosis

    Science.gov (United States)

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the ... attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...

  8. Multiple Myeloma

    Science.gov (United States)

    Multiple myeloma is a cancer that begins in plasma cells, a type of white blood cell. These cells ... bones. No one knows the exact causes of multiple myeloma, but it is more common in older people ...

  9. Fetal calcifications are associated with chromosomal abnormalities.

    Directory of Open Access Journals (Sweden)

    Ellika Sahlin

    Full Text Available The biological importance of calcifications occasionally noted in fetal tissues (mainly liver at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001. The most frequent aberrations among cases included trisomy 21 (33%, trisomy 18 (22%, and monosomy X (18%. A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004. Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001.The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer

  10. Electrocardiographic abnormalities and serum magnesium in patients with subarachnoid hemorrhage

    NARCIS (Netherlands)

    van den Bergh, Walter M; Algra, Ale; Rinkel, Gabriël J E

    2004-01-01

    BACKGROUND AND PURPOSE: ECG abnormalities and hypomagnesemia frequently occur after aneurysmal subarachnoid hemorrhage (SAH). Because hypomagnesemia is associated with several ECG abnormalities, we studied whether hypomagnesemia mediates ECG abnormalities after SAH. METHODS: We prospectively studied

  11. Smoldering Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Minjie Gao

    2015-01-01

    Full Text Available Smoldering multiple myeloma (SMM is an asymptomatic precursor stage of multiple myeloma (MM characterized by clonal bone marrow plasma cells (BMPC ≥ 10% and/or M protein level ≥ 30 g/L in the absence of end organ damage. It represents an intermediate stage between monoclonal gammopathy of undetermined significance (MGUS and symptomatic MM. The risk of progression to symptomatic MM is not uniform, and several parameters have been reported to predict the risk of progression. These include the level of M protein and the percentage of BMPC, the proportion of immunophenotypically aberrant plasma cells, and the presence of immunoparesis, free light-chain (FLC ratio, peripheral blood plasma cells (PBPC, pattern of serum M protein evolution, abnormal magnetic resonance imaging (MRI, cytogenetic abnormalities, IgA isotype, and Bence Jones proteinuria. So far treatment is still not recommended for SMM, because several trials suggested that patients with SMM do not benefit from early treatment. However, the Mateos et al. trial showed a survival benefit after early treatment with lenalidomide plus dexamethasone in patients with high-risk SMM. This trial has prompted a reevaluation of early treatment in an asymptomatic patient population.

  12. Multiplicity Counting

    Energy Technology Data Exchange (ETDEWEB)

    Geist, William H. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2015-12-01

    This set of slides begins by giving background and a review of neutron counting; three attributes of a verification item are discussed: 240Pueff mass; α, the ratio of (α,n) neutrons to spontaneous fission neutrons; and leakage multiplication. It then takes up neutron detector systems – theory & concepts (coincidence counting, moderation, die-away time); detector systems – some important details (deadtime, corrections); introduction to multiplicity counting; multiplicity electronics and example distributions; singles, doubles, and triples from measured multiplicity distributions; and the point model: multiplicity mathematics.

  13. Dopaminergic system abnormalities Etiopathogenesis of dystonia

    Institute of Scientific and Technical Information of China (English)

    Shuhui Wu; Huifang Shang; Xiaoyi Zou

    2008-01-01

    BACKGROUND: Much research has focused on the close relationship between etiopathogenesis of dystonia and abnormalities of the dopaminergic system. Nevertheless, details of the mechanism are still not clear.OBJECTIVE: To review studies from the past few years about pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system.RETRIEVAL STRATEGY: Using the key words "dystonia" and "dopamine", PubMed database and SCI databases were searched from January 1990 to December 2005 for relevant English publications. A total of 73 articles were searched and, initially, all articles were selected. Inclusive criteria: studies based on pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system. Exclusive criteria: duplicated studies. A total of 19 articles were extracted after preliminary screening.LITERATURE EVALUATION: The data sources were the PubMed and SCI databases. The types of articles chosen were reviews and original articles.DATA SYNTHESIS: Metabolism and function of dopamine in the central nervous system: the chemical constitution of dopamine is a single benzene ring. The encephalic regions of dopamine synthesis and their fiber projections comprise four nervous system pathways. One of these pathways is the substantia nigra-striatum dopamine pathway, which is a side-loop of the basal ganglia circuitry that participates in movement control and plays a main role in the adjustment of extracorticospinal tract movement. Dopamine can lead to the facilitation of movement. Dystonia and abnormalities of the dopaminergic system: different modes of dopamine abnormality exist in various forms of dystonia. Abnormalities of the dopaminergic system in several primary dystonias: at present, fifteen gene loci of primary dystonia have been reported (DYT1-DYT15). The relationship between abnormalities of the dopaminergic system and the

  14. Multiple luteinizing hormone receptor (LHR protein variants, interspecies reactivity of anti-LHR mAb clone 3B5, subcellular localization of LHR in human placenta, pelvic floor and brain, and possible role for LHR in the development of abnormal pregnancy, pelvic floor disorders and Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Fernando Romaine I

    2003-06-01

    Full Text Available Abstract Distinct luteinizing hormone receptor (LHR protein variants exist due to the posttranslational modifications. Besides ovaries, LHR immunoreactivity (LHRI was also found in other tissues, such as the brain, fallopian tube, endometrium, trophoblast and resident tissue macrophages. The 3B5 mouse monoclonal antibody was raised against purified rat LHR. In rat, porcine and human ovaries, the 3B5 identified six distinct LHR bands migrating at ~92, 80, 68, 59, 52 and 48 kDa. Characteristic LHRI was detected in rat, human and porcine corpora lutea. During cellular differentiation, subcellular LHR distribution changed from none to granular cytoplasmic, perinuclear, surface, nuclear and no staining. There were also differences in vascular LHR expression – lack of LHRI in ovarian vessels and strong staining of vessels in other tissues investigated. In normal human term placentae, villous LHRI was associated with blood sinusoids and cytotrophoblast cells, and rarely detected in trophoblastic syncytium. In all abnormal placentae, the LHRI of sinusoids was absent, and syncytium showed either enhanced (immature placental phenotypes or no LHRI (aged placental phenotype. LHRI in human brain was identified in microglial cells (CD68+ resident macrophages. Protein extracts from human vaginal wall and levator ani muscle and fascia showed strong ~92 and 68 kDa species, and LHRI was detected in smooth muscle cells, fibroblasts, resident macrophages and nuclei of skeletal muscle fibers. Our observations indicate that, in contrast to the theory on the role of vascular hormone receptors in preferential pick up of circulating hormones, there is no need to enhance selective pick up rather only prevent LH/CG transport to inappropriate sites. Abnormal placental LHR expression may play a role in the development of abnormal pregnancy. Expression of LHR in the pelvic floor compartments suggests that high LH levels in postmenopausal women may contribute to the pelvic

  15. Elevada incidência de anormalidades cromossômicas numéricas detectadas por FISH multicentromérico em pacientes com mieloma múltiplo High incidence of chromosomal numerical abnormalities by multicentromeric FISH in multiple myeloma patients

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes L. F. Chauffaille

    2007-02-01

    Full Text Available Este estudo objetivou detectar as alterações genéticas em pacientes com mieloma múltiplo (MM, usando o método de hibridação in situ por fluorescência em interfases (FISH interfásico. Para detectar as alterações numéricas foram usadas sondas multicentroméricas e para os rearranjos mais freqüentemente observados na doença foram utilizadas as sondas lócus específicas para IGH, P53, ciclina D1 e RB1. Foram estudados 34 pacientes com MM em estágio avançado, ainda que recém-diagnosticados, 97% dos quais apresentaram anormalidades numéricas detectadas por FISH, sendo 75% hiperdiplóides, 18% hipodiplóides e 3% tri/tetraplóides. Em relação às demais anormalidades, a deleção 13q foi encontrada em 30% dos casos e o rearranjo IGH, em 25%. Agrupando os pacientes com hipodiploidia e com deleção 13q14 (grupo desfavorável e comparando-os com os demais (grupo não-desfavorável, houve tendência a pacientes jovens no grupo desfavorável (p = 0,06 e níveis de hemoglobina (Hb significativamente mais baixos (This study aimed to characterize genetic alterations by interphase multicentromeric FISH focusing on chromosomal numerical abnormalities and using some locus specific probes for the most frequent aberrations found in the disease, in a homogeneous cohort of 34 advanced stage, but recently diagnosed MM patients; 97% had numerical chromosomal abnormalities detected by FISH, being 75% hyperdiploid, 18% hypodiploid and 3% tri/tetraploid. Using locus specific probes, we found 13q deletion in 30% and IGH rearrangement in 25% of cases. Grouping hypodiploid patients together with del13q (unfavorable group and comparing them to the remaining cases (non unfavorable group we found a trend towards younger patients presenting more unfavorable abnormalities (p = 0.06 and significant lower hemoglobin level (Hb < 8.5 mg/dl, p = 0.03.

  16. Multiple luteinizing hormone receptor (LHR) protein variants, interspecies reactivity of anti-LHR mAb clone 3B5, subcellular localization of LHR in human placenta, pelvic floor and brain, and possible role for LHR in the development of abnormal pregnancy, pelvic floor disorders and Alzheimer's disease.

    Science.gov (United States)

    Bukovsky, Antonin; Indrapichate, Korakod; Fujiwara, Hiroshi; Cekanova, Maria; Ayala, Maria E; Dominguez, Roberto; Caudle, Michael R; Wimalsena, Jay; Elder, Robert F; Copas, Pleas; Foster, James S; Fernando, Romaine I; Henley, Donald C; Upadhyaya, Nirmala B

    2003-06-03

    Distinct luteinizing hormone receptor (LHR) protein variants exist due to the posttranslational modifications. Besides ovaries, LHR immunoreactivity (LHRI) was also found in other tissues, such as the brain, fallopian tube, endometrium, trophoblast and resident tissue macrophages. The 3B5 mouse monoclonal antibody was raised against purified rat LHR. In rat, porcine and human ovaries, the 3B5 identified six distinct LHR bands migrating at approximately 92, 80, 68, 59, 52 and 48 kDa. Characteristic LHRI was detected in rat, human and porcine corpora lutea. During cellular differentiation, subcellular LHR distribution changed from none to granular cytoplasmic, perinuclear, surface, nuclear and no staining. There were also differences in vascular LHR expression--lack of LHRI in ovarian vessels and strong staining of vessels in other tissues investigated. In normal human term placentae, villous LHRI was associated with blood sinusoids and cytotrophoblast cells, and rarely detected in trophoblastic syncytium. In all abnormal placentae, the LHRI of sinusoids was absent, and syncytium showed either enhanced (immature placental phenotypes) or no LHRI (aged placental phenotype). LHRI in human brain was identified in microglial cells (CD68+ resident macrophages). Protein extracts from human vaginal wall and levator ani muscle and fascia showed strong approximately 92 and 68 kDa species, and LHRI was detected in smooth muscle cells, fibroblasts, resident macrophages and nuclei of skeletal muscle fibers. Our observations indicate that, in contrast to the theory on the role of vascular hormone receptors in preferential pick up of circulating hormones, there is no need to enhance selective pick up rather only prevent LH/CG transport to inappropriate sites. Abnormal placental LHR expression may play a role in the development of abnormal pregnancy. Expression of LHR in the pelvic floor compartments suggests that high LH levels in postmenopausal women may contribute to the pelvic

  17. OPHTHALMOLOGIC ABNORMALITIES IN CHILDREN WITH IMPAIRED HEARING

    Directory of Open Access Journals (Sweden)

    Inderjit

    2014-02-01

    Full Text Available AIM: To determine the nature of ophthalmologic abnormalities in severe and profound grades of hearing impaired children and to treat visual impairment if any at the earliest . MATERIAL AND METHODS: Study was conducted on100 children in the age group of 5 - 14 years with severe and profound hearing loss visiting outpatient department of Ram Lal Eye and ENT hospital Govt. Medical College Amritsar and subjected to detailed ophthalmological examination. RESULTS: 100 children in the age group 5 - 14 years with hearing impairment were enrolled for t he study , 68 had profound and 32 had severe hearing loss . Visual disorders were found to be as high as 71%. Highest percentage was seen in children aged 7 years. Majority of them (50% had refractive error. Out of these 50 children , 28(56% had myopia , 10 (20% hypermetropia and 12(24% had astigmatism . The other ophthalmic abnormalities in our study were conjunctivitis 14(19.71% , fundus abnormalities and squint 11(15.49% , blepharitis 5 (7.04% , vitamin A deficiency 6 (8.04% , amblyopia 8 (11.26% , pupil disorder 3 (4.22% , cataract 3 (4.22% and heterochromia iridis 7 (9.85%. CONCLUSION : The high prevalence of ophthalmic abnormalities in deaf children mandate screening them for possible ophthalmic abnormalities. Early diagnosis and correction of visual d isturbances would go a long way in social and professional performance of these children.

  18. Prevalence of asymptomatic urinary abnormalities among adolescents.

    Science.gov (United States)

    Fouad, Mohamed; Boraie, Maher

    2016-05-01

    To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1%) individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8%) at the second screening, (P adolescents who had persistent urine abnormalities; 228 (9.1%) individuals had non glomerular hematuria. The hematuria was isolated in 150 (6%) individuals, combined with leukocyturia in 83 (3.3%) individuals, and combined with proteinuria in 12 (0.5%) individuals. Leukocyturia was detected in 150 (6%) of all studied adolescents; it was isolated in 39 (1.6%) individuals and combined with proteinuria in 28 (1.1%) of them. Asymptomatic bacteriuria was detected in 23 (0.9%) of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6%) of all the studied adolescents; 45 (1.8%) individuals had adolescents from rural than urban areas (P adolescents in our population.

  19. Multiple Myeloma: Diagnosis and Treatment.

    Science.gov (United States)

    Michels, Thomas C; Petersen, Keith E

    2017-03-15

    Multiple myeloma accounts for 1.6% of all cancer cases and approximately 10% of hematologic malignancies in the United States. In 2015, an estimated 28,850 new cases of multiple myeloma were diagnosed in the United States, and the disease caused more than 11,000 deaths. Patients older than 65 years account for 85% of those diagnosed with multiple myeloma, and there is a twofold increased incidence in blacks compared with whites. Patients may present with bone pain or with symptoms that are often nonspecific, such as nausea, vomiting, malaise, weakness, recurrent infections, and weight loss. Many patients present with only laboratory abnormalities, such as anemia, renal disease, and elevated protein levels. The diagnosis of multiple myeloma requires increased numbers of immature, abnormal, or atypical plasma cells in the bone marrow; a monoclonal protein in the serum or urine; or characteristic bone lesions. The diagnostic workup in a patient with suspected multiple myeloma should include a complete blood count with differential; serum chemistries; creatinine, lactate dehydrogenase, and beta2-microglobulin tests; immunoglobulin studies; skeletal survey; and bone marrow evaluation. Initiation of chemotherapy and assessment of eligibility for autologous stem cell transplantation require referral to an oncologist. Most patients with multiple myeloma will receive thromboprophylaxis, bisphosphonate therapy, and prophylaxis against infection at some point in their treatment. Family physicians play a role in assessing these patients for infection, adverse treatment effects, and renal and thrombotic complications, and in managing issues related to pain, nutrition, and psychosocial support.

  20. Spectrum of lithium induced thyroid abnormalities: a current perspective

    Directory of Open Access Journals (Sweden)

    Kibirige Davis

    2013-02-01

    Full Text Available Abstract Background Lithium is an integral drug used in the management of acute mania, unipolar and bipolar depression and prophylaxis of bipolar disorders. Thyroid abnormalities associated with treatment with lithium have been widely reported in medical literature to date. These include goitre, hypothyroidism, hyperthyroidism and autoimmune thyroiditis. This current review explores the varied thyroid abnormalities frequently encountered among patients on lithium therapy and their management, since lithium is still a fundamental and widely drug used in psychiatry and Internal Medicine. Methods PubMed database and Google scholar were used to search for relevant English language articles relating to lithium therapy and thyroid abnormalities up to December 2012. The search terms used were lithium treatment, thyroid abnormalities, thyroid dysfunction, goitre, hypothyroidism, hyperthyroidism, thyrotoxicosis, autoimmune thyroiditis, lithium toxicity, treatment of affective disorders and depression and side effects of antipsychotic drugs. Reference lists of the identified articles were further used to identify other studies. Results Lithium affects normal thyroid functioning through multiple mechanisms. At the cellular level, it decreases thyroid hormone synthesis and release. It also decreases peripheral deiodination of tetraiodothyronine (T4 or thyroxine by decreasing the activity of type I 5’ de-iodinase enzyme. Hypothyroidism and goitre (clinically and/ultrasonographically detected are the most prevalent thyroid abnormalities among patients on long term lithium therapy. Lithium induced hyperthyroidism is very infrequent. Lithium increases the propensity to thyroid autoimmunity in susceptible individuals due to its effect of augmenting the activity of B lymphocytes and reducing the ratio of circulating suppressor to cytotoxic T cells. Conclusions Thyroid function tests (serum thyroid stimulating hormone, free thyroid hormones-T4 and

  1. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  2. Abnormal fetal head shape: aetiology and management

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; David, Anna; Thomasson, Louise

    2007-01-01

    Background: Abnormal head shape is an uncommon finding on prenatal ultrasound, often associated with breech presentation, spinabifida, aneuploidy or secondary to oligohydramnios or fetal position. Other aetiologies are rarer and may be more difficult to define. Objective: To determine the aetiolo...... incidence of genetic syndromes, in the absence of a clear diagnosis, referral to a tertiary centre and genetic input is advised as detection of subtle sonographic features may aid diagnosis, allowing for targeted molecular analysis. An algorithm for management will be proposed....... and define management pathways for fetuses with an abnormal skull shape. Methods: Our FMU databases were searched to ascertain all fetuses with an abnormal skull shape. Sonographic findings, diagnosis and outcome were reviewed. Results: Of the 370 cases identified, 31.6% were associated with spinabifida...

  3. Abnormal Grain Growth Suppression in Aluminum Alloys

    Science.gov (United States)

    Hales, Stephen J. (Inventor); Claytor, Harold Dale (Inventor); Alexa, Joel A. (Inventor)

    2015-01-01

    The present invention provides a process for suppressing abnormal grain growth in friction stir welded aluminum alloys by inserting an intermediate annealing treatment ("IAT") after the welding step on the article. The IAT may be followed by a solution heat treatment (SHT) on the article under effectively high solution heat treatment conditions. In at least some embodiments, a deformation step is conducted on the article under effective spin-forming deformation conditions or under effective superplastic deformation conditions. The invention further provides a welded article having suppressed abnormal grain growth, prepared by the process above. Preferably the article is characterized with greater than about 90% reduction in area fraction abnormal grain growth in any friction-stir-welded nugget.

  4. Enhanced monitoring of abnormal emergency department demands

    KAUST Repository

    Harrou, Fouzi

    2016-06-13

    This paper presents a statistical technique for detecting signs of abnormal situation generated by the influx of patients at emergency department (ED). The monitoring strategy developed was able to provide early alert mechanisms in the event of abnormal situations caused by abnormal patient arrivals to the ED. More specifically, This work proposed the application of autoregressive moving average (ARMA) models combined with the generalized likelihood ratio (GLR) test for anomaly-detection. ARMA was used as the modelling framework of the ARMA-based GLR anomaly-detection methodology. The GLR test was applied to the uncorrelated residuals obtained from the ARMA model to detect anomalies when the data did not fit the reference ARMA model. The ARMA-based GLR hypothesis testing scheme was successfully applied to the practical data collected from the database of the pediatric emergency department (PED) at Lille regional hospital center, France. © 2015 IEEE.

  5. Persistent Pain and Sensory Abnormalities after Abdominoplasty

    DEFF Research Database (Denmark)

    Presman, Benjamin; Finnerup, Kenneth; Andresen, Sven Robert

    2015-01-01

    University Hospital, Denmark. The questionnaire included questions about pain and sensory abnormalities located to the abdominal skin, and physical and psychological function; patient satisfaction with surgery was rated on a 4-point scale. RESULTS: One hundred seventy patients answered the questionnaire......%) patients. The majority of patients reported improvement on all physical and psychological factors. Patients with pain were more often disappointed with the surgery and unwilling to recommend the surgery. CONCLUSIONS: Overall, patients were satisfied with the procedure, although abnormal abdominal skin....... Fourteen patients (8.2%) reported pain within the past 7 days related to the abdominoplasty. Abnormal abdominal skin sensation was common and reported by 138 patients (81%). Sensory hypersensitivity was associated with the presence of persistent pain. Satisfaction with the procedure was reported by 149 (88...

  6. Abnormal Head Position in Infantile Nystagmus Syndrome

    Science.gov (United States)

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  7. Temporal abnormalities in children with developmental dyscalculia.

    Science.gov (United States)

    Vicario, Carmelo Mario; Rappo, Gaetano; Pepi, Annamaria; Pavan, Andrea; Martino, Davide

    2012-01-01

    Recent imaging studies have associated Developmental dyscalculia (DD) to structural and functional alterations corresponding Parietal and the Prefrontal cortex (PFC). Since these areas were shown also to be involved in timing abilities, we hypothesized that time processing is abnormal in DD. We compared time processing abilities between 10 children with pure DD (8 years old) and 11 age-matched healthy children. Results show that the DD group underestimated duration of a sub-second scale when asked to perform a time comparison task. The timing abnormality observed in our DD participants is consistent with evidence of a shared fronto-parietal neural network for representing time and quantity.

  8. Occult intraspinal abnormalities and congenital scoliosis

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Erfani

    2007-06-01

    Full Text Available

    BACKGROUND: Congenital scoliosis occurs because of either the failure of formation or the failure of segmentation or both. Evaluation of the incidence and the types of occult intraspinal abnormalities in congenital scoliosis is the subject of this study.

    METHODS: During a period of 29 years, 103 patients with congenital scoliosis were studied. MRI was used in 46 patients, myelography or CT myelography was used in 64 patients and both MRI and myelography or CT myelography were used in 7 patients for intraspinal abnormalities.

    RESULTS: In the MRI group, among the 46 patients, 19 patients (41.3% had intraspinal abnormalities consisting syringomyelia in 9 (19.5% diastematomyelia in 8 (17.4%, tethered cord syndrome in 6 (13%, low conus in 5 (10.8% and diplomyelia in 3 (6.5% of the patients. In the myelography group, among the 64 patients, 17 (26.5% had intraspinal abnormalities and diastematomyelia was the most common one found in 14 (21.8% patients.

    CONCLUSIONS: Intraspinal abnormalities are frequent in congenital scoliosis. Syringomyelia may be associated with congenital scoliosis. In congenital scoliosis, rib fusion may be an indicator of intraspinal abnormalities in MRI. A significant difference between clinical findings and intraspinal anomalies (P<0.05 was noted. Moreover, we believe that total spinal MRI with coronal, sagittal and axial views is a valuable tool in determining the intraspinal abnormalities in congenital scoliosis. This method is highly

  9. Hemorheological abnormalities in human arterial hypertension

    Science.gov (United States)

    Lo Presti, Rosalia; Hopps, Eugenia; Caimi, Gregorio

    2014-05-01

    Blood rheology is impaired in hypertensive patients. The alteration involves blood and plasma viscosity, and the erythrocyte behaviour is often abnormal. The hemorheological pattern appears to be related to some pathophysiological mechanisms of hypertension and to organ damage, in particular left ventricular hypertrophy and myocardial ischemia. Abnormalities have been observed in erythrocyte membrane fluidity, explored by fluorescence spectroscopy and electron spin resonance. This may be relevant for red cell flow in microvessels and oxygen delivery to tissues. Although blood viscosity is not a direct target of antihypertensive therapy, the rheological properties of blood play a role in the pathophysiology of arterial hypertension and its vascular complications.

  10. Electrocardiographic abnormalities in patients with subarachnoid hemorrhage.

    Science.gov (United States)

    Sommargren, Claire E

    2002-01-01

    Subarachnoid hemorrhage is a serious neurological disorder that is often complicated by the occurrence of electrocardiographic abnormalities unexplained by preexisting cardiac conditions. These morphological waveform changes and arrhythmias often are unrecognized or misinterpreted, potentially placing patients at risk for inappropriate management. Many previous investigations were retrospective and relied on data collected in an unsystematic manner. More recent studies that included use of serial electrocardiograms and Holter recordings have provided new insight into the high prevalence of electrocardiographic changes in subarachnoid hemorrhage. Research on the prevalence, duration, and clinical significance of these electrocardiographic abnormalities and on associated factors and etiological theories is reviewed.

  11. Nonpathologizing trauma interventions in abnormal psychology courses.

    Science.gov (United States)

    Hoover, Stephanie M; Luchner, Andrew F; Pickett, Rachel F

    2016-01-01

    Because abnormal psychology courses presuppose a focus on pathological human functioning, nonpathologizing interventions within these classes are particularly powerful and can reach survivors, bystanders, and perpetrators. Interventions are needed to improve the social response to trauma on college campuses. By applying psychodynamic and feminist multicultural theory, instructors can deliver nonpathologizing interventions about trauma and trauma response within these classes. We recommend class-based interventions with the following aims: (a) intentionally using nonpathologizing language, (b) normalizing trauma responses, (c) subjectively defining trauma, (d) challenging secondary victimization, and (e) questioning the delineation of abnormal and normal. The recommendations promote implications for instructor self-reflection, therapy interventions, and future research.

  12. Anaesthesia in operations of congenital craniofacial abnormalities

    Directory of Open Access Journals (Sweden)

    Jahangirie B

    1996-07-01

    Full Text Available Some syndromes that are characterized by abnormalities of the skull, facial bones, and mandibule, most of these patients are from the pediatric population. For the anaesthetic management of patients with various craniofacial dysostosis are as follows: 1 The necessary for careful evaluation of the airway by simply observing the patient. 2 Evaluation of the patient for abnormalities of the heart and lungs. 3 Patients may also have increased intracranial pressure. 4 Anaesthetic drugs and techniques: no particular drugs is recommended. Techniques controlled ventilation. 5 All patients should be cared in the intensive care unit after operation between 24-48 hours

  13. Epigenetic Drugs for Multiple Sclerosis

    OpenAIRE

    Peedicayil, Jacob

    2016-01-01

    There is increasing evidence that abnormalities in epigenetic mechanisms of gene expression contribute to the development of multiple sclerosis (MS). Advances in epigenetics have given rise to a new class of drugs, epigenetic drugs. Although many classes of epigenetic drugs are being investigated, at present most attention is being paid to two classes of epigenetic drugs: drugs that inhibit DNA methyltransferase (DNMTi) and drugs that inhibit histone deacetylase (HDACi). This paper discusses ...

  14. Multiple Gliomas

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Multiple gliomas are well-recognized but uncommon tumors. The incidence of multiple gliomas according to some reports ranges from 0.5% to 20% of all gliomas diagnosed. Multiple gliomas can be divided into two categories. One is by location of the lesions (multifocal and multicentric). The second type is by the time of the lesions occur (synchronous and metachronous). The lesions generally show hypo, or isodensity on CT; a hypo- or isointense signal on T1-weighted images, and a hyperintense signal on T2-weighted images. Glioblastoma is the most frequent histotype. The prognosis of multiple gliomas remains unfavorable. The treatment of multiple gliomas includes surgery, radiotherapy and chemotherapy. Distinction between multicentric and multifocal gliomas is difficult. This report reviews in detail the aspects of multiple gliomas mentioned above.

  15. Hemostatic abnormalities in dogs with naturally occurring heatstroke.

    Science.gov (United States)

    Bruchim, Yaron; Kelmer, Efrat; Cohen, Adar; Codner, Carolina; Segev, Gilad; Aroch, Itamar

    2017-05-01

    To investigate hemostatic analyte abnormalities and their association with mortality in dogs with naturally occurring heatstroke. Prospective observational study. University teaching hospital. Thirty client-owned dogs with naturally occurring heatstroke. None. Citrated and EDTA blood samples were collected at presentation and at 4, 12, 24, 36, and 48 hours postpresentation (PP). Hemostatic tests performed included platelet count, prothrombin and activated partial thromboplastin times (PT and aPTT, respectively), antithrombin activity (ATA), total protein C activity (tPCA), fibrinogen, and D-dimer concentrations. The overall survival rate was 60% (18/30 dogs). Older age, higher heart rate and rectal temperature at presentation, and time from onset of clinical signs to presentation were significantly associated with mortality. Hemostatic analytes at presentation were not associated with mortality. Prolonged PT and aPTT at 12-24 hours PP, lower tPCA at 12 hours PP, and hypofibrinogenemia at 24 hours PP were significantly (P ATA were common at all time points, but were not associated with mortality. The frequency of disseminated intravascular coagulation (DIC) increased in nonsurvivors throughout hospitalization, but the development of DIC was not associated with mortality. The number of abnormal coagulation disturbances during the first 24 hours was significantly higher in nonsurvivors (P = 0.04). Hemostatic derangements are common in dogs with naturally occurring heatstroke. Alterations in PT, aPTT, tPCA, and fibrinogen concentrations appear to be associated with the outcome at 12-24 hours PP, exemplifying the need for serial measurement of multiple laboratory hemostatic tests during hospitalization, even when within reference interval on presentation. The development of DIC, as defined in this cohort, was not associated with mortality; however, nonsurvivors had significantly more coagulation abnormalities during the first 24 hours PP. © Veterinary Emergency and

  16. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  17. Metabolic Abnormalities in Children with Asthma

    OpenAIRE

    2010-01-01

    Rationale: Childhood asthma and obesity have reached epidemic proportions worldwide, and the latter is also contributing to increasing rates of related metabolic disorders, such as diabetes. Yet, the relationship between asthma, obesity, and abnormal lipid and glucose metabolism is not well understood, nor has it been adequately explored in children.

  18. Renal abnormalities in patients with Kallmann syndrome.

    Science.gov (United States)

    Zenteno, J C; Méndez, J P; Maya-Núñez, G; Ulloa-Aguirre, A; Kofman-Alfaro, S

    1999-03-01

    To report experience in patients with Kallmann syndrome (KS) in whom urography was used to establish the type and frequency of renal anomalies associated with the disorder. Of 19 patients with KS, 15 had the X-linked recessive form of the disease, whereas the remaining four were sporadic. Each patient underwent intravenous pyelography (IVP) using a non-ionic, low osmolarity contrast medium. Of the 19 patients with KS, 10 had kidney abnormalities; four presented with unilateral renal agenesis and six had less severe forms of renal abnormality (renal malrotation in four and bilateral dilatation of the calyces and pelves in two). One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. Three of the four patients with renal malrotation had a confirmed X-linked recessive form and one carried a point mutation in KAL. These results suggest that kidney abnormalities are more frequent and diverse in patients with KS than previously reported. They also indicate that defects in the KAL gene may contribute to abnormal renal development. However, a review of the literature revealed no close correlation between KAL mutations and kidney anomalies in the X-linked type of disease. Taken together, these data suggest that KAL mutations are not invariably associated with failure of renal development and that additional factors (epigenetic or local) may compensate for defects in the KAL protein.

  19. Engineering molecular crystals with abnormally weak cohesion.

    Science.gov (United States)

    Maly, Kenneth E; Gagnon, Eric; Wuest, James D

    2011-05-14

    Adding astutely placed methyl groups to hexaphenylbenzene increases molecular weight but simultaneously weakens key C-H···π interactions, thereby leading to decreased enthalpies of sublimation and showing that materials with abnormally weak cohesion can be made by identifying and then obstructing interactions that help control association.

  20. Heat stress protection in abnormally hot environments.

    CSIR Research Space (South Africa)

    Schutte, PC

    1994-11-01

    Full Text Available The present report presents the findings of SIMRAC project GAP 045 entitled ‘Heat stress protection in abnormally hot environments’. It is intended as a reference to develop guidelines which, in turn would assist mine management in establishing safe...

  1. Neurobehavioural Correlates of Abnormal Repetitive Behaviour

    Directory of Open Access Journals (Sweden)

    R. A. Ford

    1991-01-01

    Full Text Available Conditions in which echolalia and echopraxia occur are reviewed, followed by an attempt to elicit possible mechanisms of these phenomena. A brief description of stereotypical and perseverative behaviour and obsessional phenomena is given. It is suggested that abnormal repetitive behaviour may occur partly as a result of central dopaminergic dysfunction.

  2. Schizophrenogenic Parenting in Abnormal Psychology Textbooks.

    Science.gov (United States)

    Wahl, Otto F.

    1989-01-01

    Considers the treatment of family causation of schizophrenia in undergraduate abnormal psychology textbooks. Reviews texts published only after 1986. Points out a number of implications for psychologists which arise from the inclusion in these texts of the idea that parents cause schizophrenia, not the least of which is the potential for…

  3. Teaching Abnormal Psychology in a Multimedia Classroom.

    Science.gov (United States)

    Brewster, JoAnne

    1996-01-01

    Examines the techniques used in teaching an abnormal psychology class in a multimedia environment with two computers and a variety of audiovisual equipment. Students respond anonymously to various questions via keypads mounted on their desks, then immediately view and discuss summaries of their responses. (MJP)

  4. Psychology Faculty Perceptions of Abnormal Psychology Textbooks

    Science.gov (United States)

    Rapport, Zachary

    2011-01-01

    The problem. The purpose of the current study was to investigate the perceptions and opinions of psychology professors regarding the accuracy and inclusiveness of abnormal psychology textbooks. It sought answers from psychology professors to the following questions: (1) What are the expectations of the psychology faculty at a private university of…

  5. [Y chromosome structural abnormalities and Turner's syndrome].

    Science.gov (United States)

    Ravel, C; Siffroi, J-P

    2009-06-01

    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  6. ORIGINAL ARTICLE EEG changes and neuroimaging abnormalities ...

    African Journals Online (AJOL)

    salah

    neuroimaging changes of the brain and EEG abnormalities in correlation to the degree of ... MRI is the method of choice to investigate ... regional gray and white matter volumes .... relation of the cerebellar affection with disease ... were mostly done on mentally retarded cases23 ... vide a certain correlation between the.

  7. Esophageal motility abnormalities in gastroesophageal reflux disease

    Institute of Scientific and Technical Information of China (English)

    Irene; Martinucci; Nicola; de; Bortoli; Maria; Giacchino; Giorgia; Bodini; Elisa; Marabotto; Santino; Marchi; Vincenzo; Savarino; Edoardo; Savarino

    2014-01-01

    Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophagealmotility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from nonerosive reflux disease to erosive reflux disease and Barrett’s esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted.

  8. Esophageal motility abnormalities in gastroesophageal reflux disease.

    Science.gov (United States)

    Martinucci, Irene; de Bortoli, Nicola; Giacchino, Maria; Bodini, Giorgia; Marabotto, Elisa; Marchi, Santino; Savarino, Vincenzo; Savarino, Edoardo

    2014-05-06

    Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophageal motility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from non-erosive reflux disease to erosive reflux disease and Barrett's esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted.

  9. Abnormal Events for Emergency Trip in HANARO

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Guk Hun; Choi, M. J.; Park, S. I.; Kim, H. W.; Kim, S. J.; Park, J. H.; Kwon, I. C

    2006-12-15

    This report gathers abnormal events related to emergency trip of HANARO that happened during its operation over 10 years since the first criticality on February 1995. The collected examples will be utilized to the HANARO's operators as a useful guide.

  10. Meiotic chromosome abnormalities in human spermatogenesis.

    Science.gov (United States)

    Martin, Renée H

    2006-08-01

    The last few years have witnessed an explosion in the information about chromosome abnormalities in human sperm and the meiotic events that predispose to these abnormalities. We have determined that all chromosomes are susceptible to nondisjunction, but chromosomes 21 and 22 and, especially, the sex chromosomes have an increased frequency of aneuploidy. Studies are just beginning on the effects of potential mutagens on the chromosomal constitution of human sperm. The effects of pesticides and cancer therapeutic agents have been reviewed. In the last decade, there has been a great impetus to study chromosome abnormalities in sperm from infertile men because the advent of intracytoplasmic sperm injection (ICSI) made it possible for these men to father pregnancies. A large number of studies have demonstrated that infertile men have an increased frequency of chromosomally abnormal sperm and children, even when they have a normal somatic karyotype. Meiotic studies on the pachytene stage of spermatogenesis have demonstrated that infertile men have impaired chromosome synapsis, a significantly decreased frequency of recombination, and an increased frequency of chromosomes completely lacking a recombination site. Such errors make these cells susceptible to meiotic arrest and the production of aneuploid gametes.

  11. Abnormal Selective Attention Normalizes P3 Amplitudes in PDD

    Science.gov (United States)

    Hoeksma, Marco R.; Kemner, Chantal; Kenemans, J. Leon; van Engeland, Herman

    2006-01-01

    This paper studied whether abnormal P3 amplitudes in PDD are a corollary of abnormalities in ERP components related to selective attention in visual and auditory tasks. Furthermore, this study sought to clarify possible age differences in such abnormalities. Children with PDD showed smaller P3 amplitudes than controls, but no abnormalities in…

  12. Multiple isolated cutaneous plexiform schwannomas

    Directory of Open Access Journals (Sweden)

    Enas A. S. Attia

    2011-01-01

    Full Text Available Plexiform schwannoma is a rare neurogenic tumor, arising from skin and subcutaneous tissue. The presence of multiple schwannomas suggests a possible association with neurofibromatosis type 2 (NF2. A 50-year old male patient presented with multiple papulo-nodular cutaneous lesions on both arms and forearms. Histopathological examination revealed a dermal multinodular pattern of well-circumscribed masses of closely packed cells, with peripheral myxoid tissue, well-encapsulated in a thin collagenous capsule. S-100 immunohistochemical staining was diffusely and strongly positive. Neuron-specific enolase was positive, confirming a neural tissue tumor. An audiogram and Magnetic Resonance Imaging (MRI of cerebro-pontine angle showed no detected abnormality, excluding acoustic neuroma. Thus, we present a case of multiple bilateral isolated cutaneous plexiform schwannomas, not associated with NF2. Multiple plexiform schwannomas is a very rare entity, distinct from neurofibromatosis (NF, and being confined to the dermis is even more rarely reported.

  13. Changes in ischaemic ECG abnormalities and subsequent risk of cardiovascular disease

    Science.gov (United States)

    Sawai, Takeshi; Imano, Hironori; Muraki, Isao; Hayama-Terada, Mina; Shimizu, Yuji; Cui, Renzhe; Kitamura, Akihiko; Kiyama, Masahiko; Okada, Takeo; Ohira, Tetsuya; Yamagishi, Kazumasa; Umesawa, Mitsumasa; Sankai, Tomoko; Iso, Hiroyasu

    2017-01-01

    Objective The prognostic importance of changes in ischaemic ECG abnormalities over time (especially ST-T abnormalities) among Asians has not been fully investigated. We examined the associations between changes in ischaemic abnormalities upon serial ECG (improvement, persistence, deterioration) and cardiovascular disease (CVD) risk. Methods A prospective study cohort was conducted with 9374 men and women aged 40–69 years in four communities. Participants had multiple ECGs at study entry and during the next 10 years, and were followed up for a median period of 23.0 years. Total CVD (stroke and coronary heart disease) was ascertained under systematic surveillance. ECG abnormalities were defined by the Minnesota Code, ST depression (Code4), abnormal T wave (Code5) and categorised into nine groups (no–no, no–minor, no–major, minor–no, minor–minor, minor–major, major–no, major–minor, major–major) by comparison with the point of entrance and maximum change. Results We documented 1196 CVD events. Compared with no–no abnormality, no–minor, minor–major and major–major in Code4, HRs (95% CI) adjusted for cardiovascular risk factors were 1.19 (1.00–1.42), 1.57 (1.15–2.12) and 1.87 (1.42–2.47). Similar results were observed in Code5. Conclusions Changes in ischaemic ECG abnormalities from none to minor, and minor to major, as well as persistent major abnormalities, were associated with an increased risk of CVD. PMID:28176973

  14. Correlation analysis of internal jugular vein abnormalities and cerebral venous sinus thrombosis

    Institute of Scientific and Technical Information of China (English)

    JIA Ling-yun; HUA Yang; JI Xun-ming; LIU Jiang-tao

    2012-01-01

    Background Cerebral venous sinus thrombosis (CVST) is a special form of stroke with multiple causes and risk factors.However,there are still a portion of cases with unknown reasons.The aim of this study was to investigate the relationship between internal jugular vein (IJV) abnormalities and the development of CVST.Methods A total of 51 CVST patients and 30 healthy controls were enrolled.The diameter,the maximum velocity (Vmax) and the reflux time in bilateral IJVs were measured by color Doppler flow imaging (CDFI).The paired t test was used to compare the numeric values between the bilateral IJVs.The Pearson chi-square test was used to evaluate the relationship between IJV abnormality and CVST,IJV abnormality and IJV reflux,respectively.Results Among the 51 CVST patients,20 (39%) patients were with normal IJV and 31 (61%) patients were with abnormal IJV.The types of IJV abnormality included annulus stenosis 19 cases (61%),hypoplasia 9 cases (29%),thrombosis 2 cases (7%) and anomalous valve 1 case (3%).In patients with unilateral IJV abnormality,the minimum diameter of the IJV on the lesion side was significantly smaller than that of the contralateral side (P <0.0001).When compared with contralateral side,the Vmax of the lesion side with unilateral annulus stenosis was significant higher,however,it was obvious lower in patients with unilateral hypoplasia (P <0.05).Furthermore,among 27 cases with unilateral IJV abnormality,all the CVST occurred on the same side as the IJV lesions.Conclusion IJV abnormality closely correlated with the development of CVST,which is a newly identified risk factor for CVST.

  15. Multiple myeloma: 45 cases

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Hee Chul; Suh, Jin Suck; Park, Chang Yun [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    1990-10-15

    We evaluated 45 cases of multiple myelomas retrospectively confirmed in Severance Hospital from the period of 1983-1989. In order to assess the radiologic features of the multiple myeloma and to assist in possible early diagnosis and treatment. The result were as follows: 1. IgG(41%) was the most common immunoglobulin type secreted followed by light chain(36%). IgA(19%) and IgD(2%). Two percent of the patients had non-secretory type. 89% of patients were in their stage III of the disease. 2. Among the 45 patients, 96% had abnormal plain radiographic findings with average number of 4.5 lesions. Common sites were the spine, rib, skull, pelvis, and humerus in descending orders. The findings were localized or diffuse osteolytic bone destruction(85%). osteoporosis(49%), pathologic fracture and endosteal scalloping(55%). Osteoporosis was more prominent in stage III than stage II. 3. Both plain X-ray and radioisotope study was available for comparison in 28 patients. Concordance between the two studies were 44%, lesions detected only on plain X-ray film were 51%, and lesions detected only on the radioisotope were 5%. The plain radiography was able to detect only 54% of bone lesions confirmed by bone marrow biopsy. With the above results, accurate evaluation of bone lesions in multiple myeloma may be difficult with radiologic studies only. But familiarity with these radiologic findings of the this disease entity is necessary for early suspicion of the disease, thus for early diagnosis and treatment.

  16. Multiple homicides.

    Science.gov (United States)

    Copeland, A R

    1989-09-01

    A study of multiple homicides or multiple deaths involving a solitary incident of violence by another individual was performed on the case files of the Office of the Medical Examiner of Metropolitan Dade County in Miami, Florida, during 1983-1987. A total of 107 multiple homicides were studied: 88 double, 17 triple, one quadruple, and one quintuple. The 236 victims were analyzed regarding age, race, sex, cause of death, toxicologic data, perpetrator, locale of the incident, and reason for the incident. This article compares this type of slaying with other types of homicide including those perpetrated by serial killers. Suggestions for future research in this field are offered.

  17. Multiple myeloma.

    LENUS (Irish Health Repository)

    Collins, Conor D

    2012-02-01

    Advances in the imaging and treatment of multiple myeloma have occurred over the past decade. This article summarises the current status and highlights how an understanding of both is necessary for optimum management.

  18. Parenting Multiples

    Science.gov (United States)

    ... babies do. Though it can be difficult to let go of the thousand other things you need to do, ... tell multiple babies apart when they first come home, so don't feel guilty if you mix yours up at ...

  19. Women's initial experience of abnormal papanicolaou smear.

    Science.gov (United States)

    Mitchell, Susan; Hall, Vincent P

    2009-06-01

    To discover the early subjective experience of women affected by abnormal Papanicolaou smear, a qualitative study was undertaken with 8 North Carolina women, 4 to 12 months postnotification of their first abnormal result. Data were analyzed via grounded theory methodology to identify a core theory that could guide interventions to improve follow-up for cancer prevention. This theoretical process is described as a labyrinth journey-an imperative healing process undertaken by all participants, who undertook the following tasks: evaluating peril, seeking refuge, obtaining information, and reframing their self-image. Women who also learned they were infected with the human papillomavirus faced a prolonged sense of threat to their sense of sexual well-being. Their additional tasks related to reevaluating their sexual self-image, and they continued to work on these reframing tasks throughout their 1st year's journey. Progress through the labyrinth depended upon emotional or spiritual support, nonjudgmental acceptance and access to accurate information.

  20. Spinal cord injury without radiographic abnormality

    Directory of Open Access Journals (Sweden)

    Singh Anil

    2006-01-01

    Full Text Available Spinal cord injury without radiological abnormality is rare in adults. Below we present a case report of 20 yrs old male with isolated cervical cord injury, without accompanying vertebral dislocation or fracture involving the spinal canal rim. He fell down on plain and smooth ground while carrying 40 kg weight overhead and developed quadriparesis with difficulty in respiration. Plain radiographs of the neck revealed no fractures or dislocations. MRI showed bulky spinal cord and an abnormal hyper intense signal on the T2W image from C2 vertebral body level to C3/4 intervertebral disc level predominantly in the anterior aspect of the cord The patient was managed conservatively with head halter traction and invasive ventilatory support for the initial 7 days period in the ICU. In our patient recovery was good and most of the neurological deficit improved over 4 weeks with conservative management.

  1. Mitochondrial abnormalities in the myofibrillar myopathies.

    Science.gov (United States)

    Jackson, S; Schaefer, J; Meinhardt, M; Reichmann, H

    2015-11-01

    Myofibrillar myopathies are a genetically diverse group of skeletal muscle disorders, with distinctive muscle histopathology. Causative mutations have been identified in the genes MYOT, LDB3, DES, CRYAB, FLNC, BAG3, DNAJB6, FHL1, PLEC and TTN, which encode proteins which either reside in the Z-disc or associate with the Z-disc. Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literature to determine the extent of mitochondrial dysfunction in each of the myofibrillar myopathy subtypes. Abnormal mitochondrial distribution is a frequent finding in each of the subtypes, but a high frequency of COX-negative or ragged red fibres, a characteristic finding in some of the conventional mitochondrial myopathies, is a rare finding. Few in vitro studies of mitochondrial function have been performed in affected patients.

  2. Abnormal cervical cytology and health care use

    DEFF Research Database (Denmark)

    Frederiksen, Maria Eiholm; Baillet, Miguel Vázquez-Prada; Dugué, Pierre-Antoine

    2015-01-01

    OBJECTIVE: This study aimed to assess the long-term use of health care services in women with abnormal cytology results compared to women with normal cytology results. METHODS: We did a nationwide population-based study, using women aged 23 to 59years participating in the national organized...... cervical cancer screening program. We included a study population of 40,153 women with abnormal cytology (exposed) and 752,627 women with normal cytology (non-exposed). We retrieved data from the Danish Civil Registration System, the Danish Pathology Data Bank, the National Health Service, the National......" the cytology result and for the 5-year period "after" the result. RESULTS: During the "before" period exposed women had more contacts to GPs, more contacts to psychologists/psychiatrist, and more hospital admissions than non-exposed women. In both exposed and non-exposed women, health care use increased from...

  3. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  4. Migraine and structural abnormalities in the brain

    DEFF Research Database (Denmark)

    Hougaard, Anders; Amin, Faisal Mohammad; Ashina, Messoud

    2014-01-01

    PURPOSE OF REVIEW: The aim is to provide an overview of recent studies of structural brain abnormalities in migraine and to discuss the potential clinical significance of their findings. RECENT FINDINGS: Brain structure continues to be a topic of extensive research in migraine. Despite advances...... in neuroimaging techniques, it is not yet clear if migraine is associated with grey matter changes. Recent large population-based studies sustain the notion of increased prevalence of white matter abnormalities in migraine, and possibly of silent infarct-like lesions. The clinical relevance of this association...... is not clear. Structural changes are not related to cognitive decline, but a link to an increased risk of stroke, especially in patients with aura, cannot be ruled out. SUMMARY: Migraine may be a risk factor for structural changes in the brain. It is not yet clear how factors such as migraine sub-type, attack...

  5. [Abnormal hemoglobins in Negroid Ecuadorian populations].

    Science.gov (United States)

    Jara, N O; Guevara Espinoza, A; Guderian, R H

    1989-02-01

    The prevalence of hemoglobinopathies was determined in the black race located in two distinct geographical areas in Ecuador; in the coastal province of Esmeraldas, particularly the Santiago basin (Rio Cayapas and Rio Onzoles) and in the province of Imbabura, particularly in the intermoutain valley, Valle de Chota. A total of 2038 blood samples were analyzed, 1734 in Esmeraldas and 304 in Inbabura, of which 23.2% (473 individuals) were found to be carriers of abnormal hemoglobins, 25.4% (441) in Esmeraldas and 10.5% (32) in Imbabura. The abnormal hemoglobins found in Esmeraldas were Hb AS (19.2%), Hb AC (5.0%), Hb SS (0.6%) and Hb SC (0.5%) while in Imbabura only Hb AS (9.5%) and Hb AC (0.9%) were found. The factors that could influence the difference in prevalence found in the two geographical areas are discussed.

  6. Developmental pragmatics in normal and abnormal children.

    Science.gov (United States)

    Bara, B G; Bosco, F M; Bucciarelli, M

    1999-07-01

    We propose a critical review of current theories of developmental pragmatics. The underlying assumption is that such a theory ought to account for both normal and abnormal development. From a clinical point of view, we are concerned with the effects of brain damage on the emergence of pragmatic competence. In particular, the paper deals with direct speech acts, indirect speech acts, irony, and deceit in children with head injury, closed head injury, hydrocephalus, focal brain damage, and autism. Since no single theory covers systematically the emergence of pragmatic capacity in normal children, it is not surprising that we have not found a systematic account of deficits in the communicative performance of brain injured children. In our view, the challenge for a pragmatic theory is the determination of the normal developmental pattern within which different pragmatic phenomena may find a precise role. Such a framework of normal behavior would then permit the systematic study of abnormal pragmatic development.

  7. Trading networks, abnormal motifs and stock manipulation

    OpenAIRE

    2012-01-01

    We study trade-based manipulation of stock prices from the perspective of complex trading networks constructed by using detailed information of trades. A stock trading network consists of nodes and directed links, where every trader is a node and a link is formed from one trader to the other if the former sells shares to the latter. Specifically, three abnormal network motifs are investigated, which are found to be formed by a few traders, implying potential intention of price manipulation. W...

  8. Computed tomography in abnormalities of the hip

    Energy Technology Data Exchange (ETDEWEB)

    Visser, J.D.; Jonkers, A.; Klasen, H.J. (Rijksuniversiteit Groningen (Netherlands). Academisch Ziekenhuis); Hillen, B. (Rijksuniversiteit Groningen (Netherlands). Lab. voor Anatomie en Embryologie)

    1982-06-26

    The value of computed tomography in the assessment of abnormalities of the hip is demonstrated with the aid of an anatomical preparation and in patients with, respectively, congenital dislocation of a hip, dislocation of the hip in spina bifida, an acetabular fracture and a Ewing tumour. The anteversion of the acetabulum and femur and the instability index of the hip joint can be measured by means of computed tomography.

  9. Abnormal calcium homeostasis in peripheral neuropathies

    OpenAIRE

    2009-01-01

    Abnormal neuronal calcium (Ca2+) homeostasis has been implicated in numerous diseases of the nervous system. The pathogenesis of two increasingly common disorders of the peripheral nervous system, namely neuropathic pain and diabetic polyneuropathy, has been associated with aberrant Ca2+ channel expression and function. Here we review the current state of knowledge regarding the role of Ca2+ dyshomeostasis and associated mitochondrial dysfunction in painful and diabetic neuropathies. The cent...

  10. OPHTHALMOLOGIC ABNORMALITIES IN CHILDREN WITH IMPAIRED HEARING

    OpenAIRE

    Inderjit; Jagdeepak; Prempal; Anup Narayanrao

    2014-01-01

    AIM: To determine the nature of ophthalmologic abnormalities in severe and profound grades of hearing impaired children and to treat visual impairment if any at the earliest . MATERIAL AND METHODS: Study was conducted on100 children in the age group of 5 - 14 years with severe and profound hearing loss visiting outpatient department of Ram Lal Eye and ENT hospital Govt. Medical College Amritsar and subjected to detailed ophthalmological examination. R...

  11. Binocular combination in abnormal binocular vision.

    Science.gov (United States)

    Ding, Jian; Klein, Stanley A; Levi, Dennis M

    2013-02-08

    We investigated suprathreshold binocular combination in humans with abnormal binocular visual experience early in life. In the first experiment we presented the two eyes with equal but opposite phase shifted sine waves and measured the perceived phase of the cyclopean sine wave. Normal observers have balanced vision between the two eyes when the two eyes' images have equal contrast (i.e., both eyes contribute equally to the perceived image and perceived phase = 0°). However, in observers with strabismus and/or amblyopia, balanced vision requires a higher contrast image in the nondominant eye (NDE) than the dominant eye (DE). This asymmetry between the two eyes is larger than predicted from the contrast sensitivities or monocular perceived contrast of the two eyes and is dependent on contrast and spatial frequency: more asymmetric with higher contrast and/or spatial frequency. Our results also revealed a surprising NDE-to-DE enhancement in some of our abnormal observers. This enhancement is not evident in normal vision because it is normally masked by interocular suppression. However, in these abnormal observers the NDE-to-DE suppression was weak or absent. In the second experiment, we used the identical stimuli to measure the perceived contrast of a cyclopean grating by matching the binocular combined contrast to a standard contrast presented to the DE. These measures provide strong constraints for model fitting. We found asymmetric interocular interactions in binocular contrast perception, which was dependent on both contrast and spatial frequency in the same way as in phase perception. By introducing asymmetric parameters to the modified Ding-Sperling model including interocular contrast gain enhancement, we succeeded in accounting for both binocular combined phase and contrast simultaneously. Adding binocular contrast gain control to the modified Ding-Sperling model enabled us to predict the results of dichoptic and binocular contrast discrimination experiments

  12. ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

  13. Abnormal Retained Earnings Around The World

    OpenAIRE

    Alves, Paulo; Silva,Paulo

    2017-01-01

    Using a firm-level survey database covering 50 countries we evaluate firms´ abnormal retained earnings. The results of our work indicate that firms located in emerging markets retain more earnings than firms from developed countries. On the other hand, firms located on common law based countries retain earnings above the expected and higher than firms placed on civil law based countries. A possible explanation, according to our results, can be seen in the economic growth that these countries ...

  14. Dysglycemia induces abnormal circadian blood pressure variability

    Directory of Open Access Journals (Sweden)

    Kumarasamy Sivarajan

    2011-11-01

    Full Text Available Abstract Background Prediabetes (PreDM in asymptomatic adults is associated with abnormal circadian blood pressure variability (abnormal CBPV. Hypothesis Systemic inflammation and glycemia influence circadian blood pressure variability. Methods Dahl salt-sensitive (S rats (n = 19 after weaning were fed either an American (AD or a standard (SD diet. The AD (high-glycemic-index, high-fat simulated customary human diet, provided daily overabundant calories which over time lead to body weight gain. The SD (low-glycemic-index, low-fat mirrored desirable balanced human diet for maintaining body weight. Body weight and serum concentrations for fasting glucose (FG, adipokines (leptin and adiponectin, and proinflammatory cytokines [monocyte chemoattractant protein-1 (MCP-1 and tumor necrosis factor-α (TNF-α] were measured. Rats were surgically implanted with C40 transmitters and blood pressure (BP-both systolic; SBP and diastolic; DBP and heart rate (HR were recorded by telemetry every 5 minutes during both sleep (day and active (night periods. Pulse pressure (PP was calculated (PP = SBP-DBP. Results [mean(SEM]: The AD fed group displayed significant increase in body weight (after 90 days; p Conclusion These data validate our stated hypothesis that systemic inflammation and glycemia influence circadian blood pressure variability. This study, for the first time, demonstrates a cause and effect relationship between caloric excess, enhanced systemic inflammation, dysglycemia, loss of blood pressure control and abnormal CBPV. Our results provide the fundamental basis for examining the relationship between dysglycemia and perturbation of the underlying mechanisms (adipose tissue dysfunction induced local and systemic inflammation, insulin resistance and alteration of adipose tissue precursors for the renin-aldosterone-angiotensin system which generate abnormal CBPV.

  15. Abnormal Activity Detection Using Pyroelectric Infrared Sensors

    Directory of Open Access Journals (Sweden)

    Xiaomu Luo

    2016-06-01

    Full Text Available Healthy aging is one of the most important social issues. In this paper, we propose a method for abnormal activity detection without any manual labeling of the training samples. By leveraging the Field of View (FOV modulation, the spatio-temporal characteristic of human activity is encoded into low-dimension data stream generated by the ceiling-mounted Pyroelectric Infrared (PIR sensors. The similarity between normal training samples are measured based on Kullback-Leibler (KL divergence of each pair of them. The natural clustering of normal activities is discovered through a self-tuning spectral clustering algorithm with unsupervised model selection on the eigenvectors of a modified similarity matrix. Hidden Markov Models (HMMs are employed to model each cluster of normal activities and form feature vectors. One-Class Support Vector Machines (OSVMs are used to profile the normal activities and detect abnormal activities. To validate the efficacy of our method, we conducted experiments in real indoor environments. The encouraging results show that our method is able to detect abnormal activities given only the normal training samples, which aims to avoid the laborious and inconsistent data labeling process.

  16. Abnormal calcium homeostasis in peripheral neuropathies.

    Science.gov (United States)

    Fernyhough, Paul; Calcutt, Nigel A

    2010-02-01

    Abnormal neuronal calcium (Ca2+) homeostasis has been implicated in numerous diseases of the nervous system. The pathogenesis of two increasingly common disorders of the peripheral nervous system, namely neuropathic pain and diabetic polyneuropathy, has been associated with aberrant Ca2+ channel expression and function. Here we review the current state of knowledge regarding the role of Ca2+ dyshomeostasis and associated mitochondrial dysfunction in painful and diabetic neuropathies. The central impact of both alterations of Ca2+ signalling at the plasma membrane and also intracellular Ca2+ handling on sensory neurone function is discussed and related to abnormal endoplasmic reticulum performance. We also present new data highlighting sub-optimal axonal Ca2+ signalling in diabetic neuropathy and discuss the putative role for this abnormality in the induction of axonal degeneration in peripheral neuropathies. The accumulating evidence implicating Ca2+ dysregulation in both painful and degenerative neuropathies, along with recent advances in understanding of regional variations in Ca2+ channel and pump structures, makes modulation of neuronal Ca2+ handling an increasingly viable approach for therapeutic interventions against the painful and degenerative aspects of many peripheral neuropathies.

  17. Abnormal erythrocyte metabolism in hepatic disease.

    Science.gov (United States)

    Smith, J R; Kay, N E; Gottlieb, A J; Oski, F A

    1975-12-01

    Erythrocyte (RBC) metabolic studies were done on 114 patients with severe hepatic disease. Heinz body formation after incubation of RBCs with acetyl phenylhydrazine was found to be significantly higher in patients than in controls. RBC-reduced glutathione levels were lower than those of controls both before and after incubation with acetyl phenylhydrazine, and patients with the highest Heinz body counts had the lowest reduced glutathione levels. RBC methylene blue-stimulated hexose monophosphate (HMP) shunt metabolism and glucose recycling through the shunt were significantly lower in patients with active hepatic disease than in controls. There was no difference in resting HMP shunt activity or in resting recycling of glucose. Despite impairment of shunt metabolism, total glucose consumption was greater in patients than in controls. The patients with the lowest stimulated HMP shunt metabolism and glucose recycling had the highest Heinz body counts, lowest reduced glutathione, and highest total glucose consumption. A continuum of abnormal shunt metabolism was seen, from a mild reduction of stimulated HMP shunt activity to a severe combined decrease in both the HMP shunt and glucose recycling. When measured, glutathione reductase, glutathione peroxidase, glucose-6-phosphate dehydrogenase, and transketolase were normal or increased. Sequential studies were done on 11 patients who had abnormal metabolic studies. Coincident with improvement of HMP shunt metabolism, the Heinz body counts became lower, reduced glutathione higher, hematocrit higher, and liver function improved. Impaired HMP shunt metabolism appears to be a common, acquired RBC abnormality in patients with severe, active liver disease.

  18. Abnormal asymmetry of brain connectivity in schizophrenia.

    Science.gov (United States)

    Ribolsi, Michele; Daskalakis, Zafiris J; Siracusano, Alberto; Koch, Giacomo

    2014-01-01

    Recently, a growing body of data has revealed that beyond a dysfunction of connectivity among different brain areas in schizophrenia patients (SCZ), there is also an abnormal asymmetry of functional connectivity compared with healthy subjects. The loss of the cerebral torque and the abnormalities of gyrification, with an increased or more complex cortical folding in the right hemisphere may provide an anatomical basis for such aberrant connectivity in SCZ. Furthermore, diffusion tensor imaging studies have shown a significant reduction of leftward asymmetry in some key white-matter tracts in SCZ. In this paper, we review the studies that investigated both structural brain asymmetry and asymmetry of functional connectivity in healthy subjects and SCZ. From an analysis of the existing literature on this topic, we can hypothesize an overall generally attenuated asymmetry of functional connectivity in SCZ compared to healthy controls. Such attenuated asymmetry increases with the duration of the disease and correlates with psychotic symptoms. Finally, we hypothesize that structural deficits across the corpus callosum may contribute to the abnormal asymmetry of intra-hemispheric connectivity in schizophrenia.

  19. Abnormal Activity Detection Using Pyroelectric Infrared Sensors.

    Science.gov (United States)

    Luo, Xiaomu; Tan, Huoyuan; Guan, Qiuju; Liu, Tong; Zhuo, Hankz Hankui; Shen, Baihua

    2016-06-03

    Healthy aging is one of the most important social issues. In this paper, we propose a method for abnormal activity detection without any manual labeling of the training samples. By leveraging the Field of View (FOV) modulation, the spatio-temporal characteristic of human activity is encoded into low-dimension data stream generated by the ceiling-mounted Pyroelectric Infrared (PIR) sensors. The similarity between normal training samples are measured based on Kullback-Leibler (KL) divergence of each pair of them. The natural clustering of normal activities is discovered through a self-tuning spectral clustering algorithm with unsupervised model selection on the eigenvectors of a modified similarity matrix. Hidden Markov Models (HMMs) are employed to model each cluster of normal activities and form feature vectors. One-Class Support Vector Machines (OSVMs) are used to profile the normal activities and detect abnormal activities. To validate the efficacy of our method, we conducted experiments in real indoor environments. The encouraging results show that our method is able to detect abnormal activities given only the normal training samples, which aims to avoid the laborious and inconsistent data labeling process.

  20. Schizophrenia, abnormal connection, and brain evolution.

    Science.gov (United States)

    Randall, P L

    1983-03-01

    Abnormalities of functional connection between specialized areas in the human brain may underlie the symptoms which constitute the schizophrenia syndrome. Callosal and intrahemispheric fibres may be equally involved. The clinical emergence of symptoms in the later stages of brain maturation may be dependent on myelination of these fibre groups, both of which have extended myelination cycles. Ontogenetically earlier variants of the same mechanism could theoretically result in dyslexia and the syndromes of Kanner and Gilles de la Tourette. As new and unique extensions of specialized function emerge within the evolving brain, biological trial and error of connection both within and between them may produce individuals possessing phylogenetically advanced abilities, or equally, others possessing a wide range of abnormalities including those which comprise the schizophrenia syndrome. A dormant phenotypic potential for schizophrenia may exist in individuals who never develop symptoms during the course of a lifetime though some of these may become clinically apparent under the influence of various precipitating factors. It is concluded that abnormal functional connection and its normal and "supernormal" counterparts may be natural, essential, and inevitable consequences of brain evolution, and that this may have been so throughout the history of vertebrate brain evolution.

  1. Abnormal parietal encephalomalacia associated with schizophrenia

    Science.gov (United States)

    Pan, Fen; Wang, Jun-Yuan; Xu, Yi; Huang, Man-Li

    2017-01-01

    Abstract Rationale: It is widely believed that structural abnormalities of the brain contribute to the pathophysiology of schizophrenia. The parietal lobe is a central hub of multisensory integration, and abnormities in this region might account for the clinical features of schizophrenia. However, few cases of parietal encephalomalacia associated with schizophrenia have been described. Patient concerns and Diagnoses: In this paper, we present a case of a 25-year-old schizophrenia patient with abnormal parietal encephalomalacia. The patient had poor nutrition and frequently had upper respiratory infections during childhood and adolescence. She showed severe schizophrenic symptoms such as visual hallucinations for 2 years. After examining all her possible medical conditions, we found that the patient had a lesion consistent with the diagnosis of encephalomalacia in her right parietal lobe and slight brain atrophy. Interventions: The patient was prescribed olanzapine (10 mg per day). Outcomes: Her symptoms significantly improved after antipsychotic treatment and were still well controlled 1 year later. Lessons: This case suggested that parietal encephalomalacia, which might be caused by inflammatory and infectious conditions in early life and be aggravated by undernutrition, might be implicated in the etiology of schizophrenia. PMID:28272261

  2. [Nutritional abnormalities in chronic obstructive pulmonary disease].

    Science.gov (United States)

    Gea, Joaquim; Martínez-Llorens, Juana; Barreiro, Esther

    2014-07-22

    Nutritional abnormalities are associated with chronic obstructive pulmonary disease with a frequency ranging from 2 to 50%, depending on the geographical area and the study design. Diagnostic tools include anthropometry, bioelectrical impedance, dual energy radioabsortiometry and deuterium dilution, being the body mass and the lean mass indices the most frequently used parameters. While the most important consequences of nutritional abnormalities are muscle dysfunction and exercise limitation, factors implicated include an imbalance between caloric intake and consumption, and between anabolic and catabolic hormones, inflammation, tobacco smoking, poor physical activity, hypoxemia, some drugs and aging/comorbidities. The most important molecular mechanism for malnutrition associated with chronic obstructive pulmonary disease appears to be the mismatching between protein synthesis and breakdown. Among the therapeutic measures proposed for these nutritional abnormalities are improvements in lifestyle and nutritional support, although the use of anabolic drugs (such as secretagogues of the growth hormone) offers a new therapeutic strategy. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  3. Chromosomal Abnormality in Men with Impaired Spermatogenesis

    Directory of Open Access Journals (Sweden)

    Dana Mierla

    2014-03-01

    Full Text Available Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF region of Y chromosome was performed by multiplex polymerase chain reaction (PCR on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test. Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively. Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI or testicular sperm extraction (TESE/ICSI treatment.

  4. [Frequency of external congenital abnormalities in abortions].

    Science.gov (United States)

    Arredondo de Arreola, G; López-Serna, N; Treviño-Alanís, M G; Russildi, J M; Arreola-Arredondo, B; Borrego, S A

    1992-01-01

    The purpose of this study was to calculate the incidence of external birth defects found in 1,650 aborted fetuses studied from September 1978 to February 1983 at the Department of Gynecology and Obstetrics of the University Hospital "Dr. José Eleuterio González" of the U.A.N.L. Medical School. Ninety five of fetuses had external birth defects and 85 had abnormalities in annexes. The Fisher exact test was applied to find the relationship between these abnormalities; no relationship was found. 67.4% had only one birth defect; 32.1% showed several defects. Those defects which were lethal constituted 67%, the majority being of the central nervous system. Defects found in the abdominal wall took second place in frequency followed by abnormalities in either extremity and ear defects. The birth defects seen in early gestational ages differ from those seen in live newborn babies. It is important to carry out morphological and teratological studies, not only in newborns but also during the embrion and fetal periods.

  5. Diagnosis of abnormally invasive posterior placentation: the role of MR imaging

    Directory of Open Access Journals (Sweden)

    Madison R. Kocher, BS

    2017-06-01

    Full Text Available Abnormally invasive placentation is becoming more common with a recent increase in cesarean sections and maternal age, among other risk factors. Ultrasonography is the first line-imaging, but it can be difficult to diagnose when limiting factors are present. Failure to recognize this serious placental abnormality precludes us from making the appropriate plan for the delivery and consequently can lead to fatal results. In this report, we present a case in which magnetic resonance imaging was used to diagnose posterior placenta increta missed by multiple sonographic examinations in a patient with previous myomectomies, and we also include a review of the literature on this topic. It is our conclusion that magnetic resonance imaging is superior to sonography to diagnose abnormally invasive placentation in cases of posterior placenta previa and high pretesting probability.

  6. Abnormalities occurring during female gametophyte development result in the diversity of abnormal embryo sacs and leads to abnormal fertilization in indica/japonica hybrids in rice.

    Science.gov (United States)

    Zeng, Yu-Xiang; Hu, Chao-Yue; Lu, Yong-Gen; Li, Jin-Quan; Liu, Xiang-Dong

    2009-01-01

    Embryo sac abortion is one of the major reasons for sterility in indica/japonica hybrids in rice. To clarify the causal mechanism of embryo sac abortion, we studied the female gametophyte development in two indica/japonica hybrids via an eosin B staining procedure for embryo sac scanning using confocal laser scanning microscope. Different types of abnormalities occurred during megasporogenesis and megagametogenesis were demonstrated. The earliest abnormality was observed in the megasporocyte. A lot of the chalazal-most megaspores were degenerated before the mono-nucleate embryo sac stage. Disordered positioning of nucleus and abnormal nucellus tissue were characteristics of the abnormal female gametes from the mono-nucleate to four-nucleate embryo sac stages. The abnormalities that occurred from the early stage of the eight-nucleate embryo sac development to the mature embryo sac stage were characterized by smaller sizes and wrinkled antipodals. Asynchronous nuclear migration, abnormal positioning of nucleus, and degeneration of egg apparatus were also found at the eight-nucleate embryo sac stage. The abnormalities that occurred during female gametophyte development resulted in five major types of abnormal embryo sacs. These abnormal embryo sacs led to abnormal fertilization. Hand pollination using normal pollens on the spikelets during anthesis showed that normal pollens could not exclude the effect of abnormal embryo sac on seed setting.

  7. Abnormalities Occurring during Female Gametophyte Development Result in the Diversity of Abnormal Embryo Sacs and Leads to Abnormal Fertilization in indicaljaponica Hybrids in Rice

    Institute of Scientific and Technical Information of China (English)

    Yu-Xiang Zeng; Chao-Yue Hu; Yong-Gen Lu; Jin-Quan Li; Xiang-Dong Liu

    2009-01-01

    Embryo sac abortion is one of the major masons for sterility in indicaljaponica hybrids In rice. To clarify the causal mechanism of embryo sac abortion, we studied the female gametophyte development in two indicaljaponica hybrids via an eosin B staining procedure for embryo sac scanning using confocal laser scanning microscope. Different types of abnormalities occurred during megasporogenesis and megagamatogenesis were demonstrated. The earliest abnormality was observed in the megasporocyte. A lot of the chalazal-most megaspores were degenerated before the mono-nucleate embryo sac stage. Disordered positioning of nucleus and abnormal nucallus tissue were characteristics of the abnormal female gametes from the mono-nucleate to four-nucleate embryo sac stages. The abnormalities that occurred from the early stage of the eight-nucleate embryo sac development to the mature embryo sac stage were characterized by smaller sizes and wrinkled antipodals. Asynchronous nuclear migration, abnormal positioning of nucleus, and degeneration of egg apparatus were also found at the eight-nucleate embryo sac stage. The abnormalities that occurred during female gametophyte development resulted in five major types of abnormal embryo sacs. These abnormal embryo sacs led to abnormal fertilization. Hand pollination using normal pollens on the spikelets during anthesis showed that normal pollens could not exclude the effect of abnormal embryo sac on seed setting.

  8. Abnormal Parietal Brain Function in ADHD: Replication and Extension of Previous EEG Beta Asymmetry Findings

    Directory of Open Access Journals (Sweden)

    T. Sigi eHale

    2014-07-01

    Full Text Available Background: Abundant work indicates ADHD abnormal posterior brain structure and function, including abnormal structural and functional asymmetries and reduced corpus callosum size. However, this literature has attracted considerably less research interest than fronto-striatal findings. Objective: To help address this imbalance, the current study replicates and extends our previous work showing abnormal parietal brain function in ADHD adults during the Conner’s continuous performance test (CPT. Method: Our previous study found that ADHD adults had increased rightward EEG beta (16-21 Hz asymmetry in inferior parietal brain regions during the CPT (p=.00001, and that this metric exhibited a lack of normal correlation (i.e., observed in controls with beta asymmetry at temporal-parietal regions. We re-tested these effects in a new ADHD sample, and with both new and old samples combined. We additionally examined: a EEG asymmetry in multiple frequency bands, b unilateral effects for all asymmetry findings, and c the association between EEG asymmetry and a battery of cognitive tests. Results: We replicated our original findings, again demonstrating abnormal rightward inferior parietal beta asymmetry in adults with ADHD during the CPT, and again this metric exhibited abnormal reduced correlation to temporal-parietal beta asymmetry. Novel analyses also demonstrated a broader pattern of rightward beta and theta asymmetry across inferior, superior, and temporal-parietal brain regions, and showed that rightward parietal asymmetry in ADHD was atypically associated with multiple cognitive tests. Conclusion: Abnormal increased rightward parietal EEG beta asymmetry is an important feature of ADHD. We speculate that this phenotype may occur with any form of impaired capacity for top-down task-directed control over sensory encoding functions, and that it may reflect associated increases of attentional shifting and compensatory sustained/selective attention.

  9. Multiple unerupted teeth with amelogenesis imperfecta in siblings.

    Science.gov (United States)

    Hegde, Shruthi

    2012-05-01

    Amelogenesis imperfecta encompasses a group of inherited abnormalities that are generally considered to primarily affect the formation and/or calcification of enamel. This case report describes the unusual presentation of amelogenesis imperfecta in siblings as multiple unerupted teeth, multiple pulpal calcifications, and multiple dilacerations of roots along with the defect in the enamel. The intent of our report is to highlight a rare co-occurrence of amelogenesis imperfecta with multiple morphologic alterations in siblings.

  10. Multiple Unerupted Teeth with Amelogenesis Imperfecta in Siblings

    Directory of Open Access Journals (Sweden)

    Shruthi Hegde

    2012-01-01

    Full Text Available Amelogenesis imperfecta encompasses a group of inherited abnormalities that are generally considered to primarily affect the formation and/or calcification of enamel. This case report describes the unusual presentation of amelogenesis imperfecta in siblings as multiple unerupted teeth, multiple pulpal calcifications, and multiple dilacerations of roots along with the defect in the enamel. The intent of our report is to highlight a rare co-occurrence of amelogenesis imperfecta with multiple morphologic alterations in siblings.

  11. Diffusion abnormality maps in demyelinating disease: correlations with clinical scores.

    Science.gov (United States)

    Onu, Mihaela; Roceanu, Adina; Sboto-Frankenstein, Uta; Bendic, Robert; Tarta, Eugen; Preoteasa, Florentin; Bajenaru, Ovidiu

    2012-03-01

    Magnetic resonance imaging (MRI) has been explored as a noninvasive tool to assess pathology in multiple sclerosis (MS) patients. However, the correlation between classical MRI measures and physical disability is modest in MS. The diffusion tensor imaging (DTI) MRI technique holds particular promise in this regard. The present study shows brain regions where FA and individual diffusivities abnormalities are present and check their correlations with physical disability clinical scores. Eight patients and 12 matched healthy controls were recruited. The Multiple Sclerosis Functional Composite was administered. For MR-DTI acquisitions, a Genesis Signa 1.5 T MR system, an EP/SE scanning sequence, 25 gradient directions were used. Tract Based Spatial Statistics (TBSS) group comparisons showed reduced FA and increased individual diffusivities in several brain regions in patients. Significant correlations were found between FA and: EDSS, 9-HPT(NON)DOM and 25 FW score; between λ2 and: P100 (r&l), 9-HPT(NON)DOM and 25 FW; between λ3 and: 9-HPT(NON)DOM and 25 FW score. Fractional anisotropy and individual radial diffusivities proved to be important markers of motor disabilities in MS patients when the disease duration mean and the disability scores values range are relatively high. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  12. Diffuse phalangeal signal abnormality on magnetic resonance imaging: phalangeal microgeodic disease

    Energy Technology Data Exchange (ETDEWEB)

    Radhakrishnan, Rupa; Emery, Kathleen H.; Merrow, Arnold C. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2017-03-15

    Phalangeal microgeodic disease is a rare and benign self-limited condition involving the phalanges, often in the setting of cold exposure, with characteristic MR imaging abnormalities. Radiographic case descriptions are predominantly from Asia and Europe, with only seven cases using MR to characterize phalangeal microgeodic disease. In this study we describe the MR imaging appearance of unusual and striking phalangeal signal abnormality compatible with phalangeal microgeodic disease at our institution in North America. We retrospectively reviewed cases presenting at our institution with unusual or unexplained phalangeal signal abnormalities between 2001 and 2014. We reviewed the MR imaging appearances in conjunction with radiographs and any other available imaging investigations. Of 189 examinations reviewed during the study period, 8 imaging studies in 6 patients met the study inclusion criteria. Signal abnormality was present in 57 of 112 phalanges (51%), frequently involving the distal phalanges (70%, 28 of 40), followed by the middle phalanges (56%, 18 of 32) and the proximal phalanges (28%, 11 of 40). The pattern of involvement was most commonly diaphysis (38%), followed by metaphysis (32%) and epiphysis (30%). The extent of MR signal abnormality was greater than that suspected based on clinical presentation or on radiographs. The presence of unexplained diffuse characteristic marrow involvement of multiple painful phalanges on MR images, often in the setting of cold exposure, should raise the possibility of phalangeal microgeodic disease. Consideration of this diagnosis based on MR findings would lead to a more conservative management and avoid unnecessary invasive diagnostic procedures. (orig.)

  13. Neuropsychiatric manifestations of multiple sclerosis.

    Science.gov (United States)

    Diaz-Olavarrieta, C; Cummings, J L; Velazquez, J; Garcia de la Cadena, C

    1999-01-01

    The range of neuropsychiatric symptoms in multiple sclerosis (MS) has not been prospectively assessed. The authors, working at a tertiary medical center in Mexico City, used the Neuropsychiatric Inventory (NPI) to evaluate neuropsychiatric symptoms prospectively in 44 MS patients who were stable between relapses and 25 control subjects of similar age, education, and cognitive function. Neuropsychiatric symptoms were present in 95% of patients and 16% of control subjects. Changes present were depressive symptoms (79%), agitation (40%), anxiety (37%), irritability (35%), apathy (20%), euphoria (13%), disinhibition (13%), hallucinations (10%), aberrant motor behavior (9%), and delusions (7%). The only relationships with MRI were between euphoria and hallucinations and moderately severe MRI abnormalities. The authors conclude that diverse types of neuropsychiatric symptoms are common in MS; symptoms are present between exacerbations; and there are variable correlations with MRI abnormalities.

  14. [Abnormal gas collections in the abdomen in infants].

    Science.gov (United States)

    Cohen, M D; Robinson, A E; Neuffer, F; Smith, W L

    1985-01-01

    Many unusual and uncommon abnormal gas collections within the abdomen may be encountered. This paper reviews the reported causes for unusual gas collections in the abdomen and describes several new causes of abnormal bowel gas collections.

  15. Placental loctogen levels associated with gross fetal abnormality.

    Science.gov (United States)

    Gau, G S; Cadle, G

    1977-02-01

    Four cases of severe congenital abnormality associated with persistently low maternal serum human placental lactogen levels are described. It is thought that this pattern might act as a warning of severe fetal abnormality.

  16. Phenotype abnormality: 38 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 38 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u544i abnormal for trait of behavioral quality...idermis ... abnormal ... anatomical structure arrangement ... behavioral quality

  17. Phenotype abnormality: 41 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 41 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u547i abnormal for trait of behavioral quality...ganelle ... abnormal ... anatomical structure arrangement ... behavioral quality

  18. Phenotype abnormality: 36 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 36 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u542i abnormal for trait of behavioral quality...tyledon ... abnormal ... anatomical structure arrangement ... behavioral quality

  19. Pericyte coverage of abnormal blood vessels in myelofibrotic bone marrows

    DEFF Research Database (Denmark)

    Zetterberg, Eva; Vannucchi, Alessandro M; Migliaccio, Anna Rita

    2007-01-01

    BACKGROUND AND OBJECTIVES: Myelofibrotic bone marrow displays abnormal angiogenesis but the pathogenic mechanisms of this are poorly understood. Since pericyte abnormalities are described on solid tumor vessels we studied whether vessel morphology and pericyte coverage in bone marrow samples from...

  20. Electrocardiographic and Echocardiographic Abnormalities in Chronic Alcoholics

    Directory of Open Access Journals (Sweden)

    H.D. Attar

    2017-01-01

    Full Text Available Objective: Alcohol is most commonly abused drug worldwide. It has been shown to produce toxic effects in almost every organ system in the body. Many of these medical conditions can be attributed to direct effects of alcohol whereas others are indirect sequelae that may result from nutritional deficiencies or predisposition to trauma. Alcohol consumption has been associated with a variety of cardio vascular disorders this study was thus undertaken to know the Electrocardiographic and Echocardiographic abnormalities in asymptomatic chronic alcoholic patients. Materials and Methods: 50 Patients attending the out-patient clinic & who were admitted in Al Ameen Medical College Hospital and District hospital, Bijapur were selected for the study. It was a prospective study design subjects in age group 20-40, having history of chronic alcoholism as defined, for more than 5 years were evaluated by electrocardiography and echocardiography. Patients with known diabetics, hypertensive and cardiovascular disorders were excluded from the study group. Results: The prevalence of cardiovascular abnormalities in patients of chronic alcoholism is 37% in our study. Most common ECG changes are sinus tachycardia (18%, and Non specific ST-T changes (9%. Most common 2D ECHO changes was increased posterior wall thickness (11% and followed by increased interventricular septum thickness and decreased ejection fraction (<40%. The prevalence of cardio vascular abnormalities are more with increased duration of alcohol consumption and also high in advanced age group. Conclusions: This study confirms that many electrocardiographic as well as echocardiographic changes occur prior to symptomatic cardiac disorders established to be caused by chronic alcohol intake such as alcoholic cardiomyopathy .which probably are early indictors of ongoing effects of alcohol and are reversible during the early stages detected by non invasive investigations like Electrocardiography and

  1. Haematological abnormalities in systemic lupus erythematosus.

    Science.gov (United States)

    Aleem, Aamer; Al Arfaj, Abdurahman Saud; khalil, Najma; Alarfaj, Husain

    2014-01-01

    This study was conducted to evaluate the frequency and pattern of haematological abnormalities (HA) in SLE patients at the time of diagnosis and last follow-up, and their relationship with organ involvement. This retrospective study included patients who were diagnosed and treated for SLE from 1982 to 2008 at King Khalid University hospital, Riyadh. Demographic and haematological parameters at diagnosis and the last follow-up, disease manifestations, organ involvement and clinical hematological complications were recorded. Association of HA with organ involvement was explored by multivariate analysis. A total of 624 patients (90.7% females, mean age 34.3±11.9 years) were studied. HA were present in 516 (82.7 %) patients at the time of diagnosis. Anemia was the most frequent HA in 63.0% patients followed by lymphopenia in 40.3%, leukopenia in 30.0%, thrombocytopenia in 10.9% and autoimmune hemolytic anemia (AIHA) in 4.6% patients. Deep vein thrombosis and pulmonary embolism were diagnosed in 7.4% and 2.6% patients respectively. After a mean follow-up of 9.3±5.3 years, 329/491 (67%) patients still had some HA present. Anemia remained the most common abnormality (51.7% patients) followed by lymphopenia in 33.1%, and thrombocytopenia in 4.8% patients. Leucopenia was associated with oral ulcers (p=0.021) and alopecia (p=0.031), anemia with renal disease (p=0.017), AIHA with neurological involvement (p=0.003), elevated IgG with malar rash (p=0.027), and low C3 with serositis (p=0.026). HA are very common at the time of diagnosis and during follow-up in SLE, and some of these abnormalities are associated with organ damage. This information may help in better management planning of SLE patients.

  2. Skeletal abnormalities of acrogeria, a progeroid syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  3. Cranial computed tomographic abnormalities in leptomeningeal metastasis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Y.Y.; Glass, J.P.; Geoffray, A.; Wallace, S.

    1984-11-01

    Sixty-four (57.6%) of 111 cancer patients with cerebrospinal fluid cytology positive for malignant cells had cranial computed tomographic (CT) scans within 2 weeks before or after a lumbar puncture. Twenty-two (34.3%) of the 64 had abnormal CT findings indicative of leptomeningeal metastasis. Thirteen (59.6%) of these 22 patients had associated parenchymal metastases. Recognition of leptomeningeal disease may alter the management of patients with parenchymal metastases. Communicating hydrocephalus in cancer patients should be considered to be related to leptomeningeal metastasis until proven otherwise.

  4. Sexsomnia: abnormal sexual behavior during sleep.

    Science.gov (United States)

    Andersen, Monica L; Poyares, Dalva; Alves, Rosana S C; Skomro, Robert; Tufik, Sergio

    2007-12-01

    This review attempts to assemble the characteristics of a distinct variant of sleepwalking called sexsomnia/sleepsex from the seemingly scarce literature into a coherent theoretical framework. Common features of sexsomnia include sexual arousal with autonomic activation (e.g. nocturnal erection, vaginal lubrication, nocturnal emission, dream orgasms). Somnambulistic sexual behavior and its clinical implications, the role of precipitating factors, diagnostic, treatment, and medico-legal issues are also reviewed. The characteristics of several individuals described in literature including their family/personal history of parasomnia as well as the abnormal behaviors occurring during sleep are reported.

  5. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, Egon; Stenager, E N; Knudsen, Lone

    1994-01-01

    In a cross-sectional study of 117 randomly selected patients (52 men, 65 women) with definite multiple sclerosis, it was found that 76 percent were married or cohabitant, 8 percent divorced. Social contacts remained unchanged for 70 percent, but outgoing social contacts were reduced for 45 percent...

  6. Multiple Sclerosis.

    Science.gov (United States)

    Plummer, Nancy; Michael, Nancy, Ed.

    This module on multiple sclerosis is intended for use in inservice or continuing education programs for persons who administer medications in long-term care facilities. Instructor information, including teaching suggestions, and a listing of recommended audiovisual materials and their sources appear first. The module goal and objectives are then…

  7. Multiple Pregnancy

    Science.gov (United States)

    ... more frequently and are likely to have their babies by cesarean delivery . How can multiple pregnancy affect my risk of ... the result of a recognized disease. Cesarean Delivery: Delivery of a baby through surgical incisions made in the mother’s abdomen ...

  8. Multiple Medicines

    Science.gov (United States)

    ... DOO \\RXU YLWDPLQV DQG VXSSOHPHQWV WRR Drug Safety: Managing Multiple Drugs When you review your drugs with your doctor, ask these ... you got similar drugs from different doctors. Or you may take a brand-name and a generic drug that do the ...

  9. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Jensen, K

    1988-01-01

    Forty-two (12%) of a total of 366 patients with multiple sclerosis (MS) had psychiatric admissions. Of these, 34 (81%) had their first psychiatric admission in conjunction with or after the onset of MS. Classification by psychiatric diagnosis showed that there was a significant positive correlation...

  10. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Jensen, K

    1990-01-01

    An investigation on the correlation between ability to read TV subtitles and the duration of visual evoked potential (VEP) latency in 14 patients with definite multiple sclerosis (MS), indicated that VEP latency in patients unable to read the TV subtitles was significantly delayed in comparison...

  11. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Knudsen, L; Jensen, K

    1991-01-01

    In a cross-sectional investigation of 116 patients with multiple sclerosis, the social and sparetime activities of the patient were assessed by both patient and his/her family. The assessments were correlated to physical disability which showed that particularly those who were moderately disabled...

  12. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Knudsen, L; Jensen, K

    1994-01-01

    In a cross-sectional study of 94 patients (42 males, 52 females) with definite multiple sclerosis (MS) in the age range 25-55 years, the correlation of neuropsychological tests with the ability to read TV-subtitles and with the use of sedatives is examined. A logistic regression analysis reveals...

  13. Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.

    Science.gov (United States)

    Wakeling, Emma L; Dattani, Mehul T; Bloch-Zupan, A; Winter, Robin M; Holder, Susan E

    2003-04-01

    We report a girl with septo-optic dysplasia in association with subglottic stenosis, sagittal craniosynostosis, osteoporosis and dental anomalies. It is uncommon for patients with septo-optic dysplasia to have multiple, extra-cranial malformations. A number of differential diagnoses were considered in this case, including Cole-Carpenter syndrome, Pfeiffer syndrome and osteoglophonic dwarfism. However, none can account for all the abnormalities seen. We therefore believe that this is a previously unreported, but highly distinctive, phenotype.

  14. Abnormal pitch perception produced by cochlear implant stimulation.

    Directory of Open Access Journals (Sweden)

    Fan-Gang Zeng

    Full Text Available Contemporary cochlear implants with multiple electrode stimulation can produce good speech perception but poor music perception. Hindered by the lack of a gold standard to quantify electric pitch, relatively little is known about the nature and extent of the electric pitch abnormalities and their impact on cochlear implant performance. Here we overcame this obstacle by comparing acoustic and electric pitch perception in 3 unilateral cochlear-implant subjects who had functionally usable acoustic hearing throughout the audiometric frequency range in the non-implant ear. First, to establish a baseline, we measured and found slightly impaired pure tone frequency discrimination and nearly perfect melody recognition in all 3 subjects' acoustic ear. Second, using pure tones in the acoustic ear to match electric pitch induced by an intra-cochlear electrode, we found that the frequency-electrode function was not only 1-2 octaves lower, but also 2 times more compressed in frequency range than the normal cochlear frequency-place function. Third, we derived frequency difference limens in electric pitch and found that the equivalent electric frequency discrimination was 24 times worse than normal-hearing controls. These 3 abnormalities are likely a result of a combination of broad electric field, distant intra-cochlear electrode placement, and non-uniform spiral ganglion cell distribution and survival, all of which are inherent to the electrode-nerve interface in contemporary cochlear implants. Previous studies emphasized on the "mean" shape of the frequency-electrode function, but the present study indicates that the large "variance" of this function, reflecting poor electric pitch discriminability, is the main factor limiting contemporary cochlear implant performance.

  15. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Lozzio, C.B.; Bamberger, E.; Anderson, I. [Univ. of Tennessee, Knoxville, TN (United States)] [and others

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  16. Levetiracetam reduces abnormal network activations in temporal lobe epilepsy

    Science.gov (United States)

    Wandschneider, Britta; Stretton, Jason; Sidhu, Meneka; Centeno, Maria; Kozák, Lajos R.; Symms, Mark; Thompson, Pamela J.; Duncan, John S.

    2014-01-01

    Objective: We used functional MRI (fMRI) and a left-lateralizing verbal and a right-lateralizing visual-spatial working memory (WM) paradigm to investigate the effects of levetiracetam (LEV) on cognitive network activations in patients with drug-resistant temporal lobe epilepsy (TLE). Methods: In a retrospective study, we compared task-related fMRI activations and deactivations in 53 patients with left and 54 patients with right TLE treated with (59) or without (48) LEV. In patients on LEV, activation patterns were correlated with the daily LEV dose. Results: We isolated task- and syndrome-specific effects. Patients on LEV showed normalization of functional network deactivations in the right temporal lobe in right TLE during the right-lateralizing visual-spatial task and in the left temporal lobe in left TLE during the verbal task. In a post hoc analysis, a significant dose-dependent effect was demonstrated in right TLE during the visual-spatial WM task: the lower the LEV dose, the greater the abnormal right hippocampal activation. At a less stringent threshold (p < 0.05, uncorrected for multiple comparisons), a similar dose effect was observed in left TLE during the verbal task: both hippocampi were more abnormally activated in patients with lower doses, but more prominently on the left. Conclusions: Our findings suggest that LEV is associated with restoration of normal activation patterns. Longitudinal studies are necessary to establish whether the neural patterns translate to drug response. Classification of evidence: This study provides Class III evidence that in patients with drug-resistant TLE, levetiracetam has a dose-dependent facilitation of deactivation of mesial temporal structures. PMID:25253743

  17. Seizure increases electroencephalographic abnormalities in children with tuberculous meningitis

    Directory of Open Access Journals (Sweden)

    Prastiya Indra Gunawan

    2016-04-01

    The EEG pattern in children with TBM varies, and EEG abnormalities were more frequently localized in the frontotemporal region. Seizures were associated with EEG abnormalities in children with TBM. EEG abnormalities occurring simultaneously with seizures may predict the occurrence of seizures.

  18. Abnormal immune parameters in HIV-seronegative haemophilic patients

    NARCIS (Netherlands)

    Allersma, DP; Smid, WM; Briet, E

    In HIV-seronegative haemophiliac patients abnormal immune parameters have been demonstrated. In this review data on these abnormalities, their aetiology and clinical consequences are summarized and discussed. The data reviewed show abnormalities at different levels of the adaptive immune system.

  19. Abnormal immune parameters in HIV-seronegative haemophilic patients

    NARCIS (Netherlands)

    Allersma, DP; Smid, WM; Briet, E

    1996-01-01

    In HIV-seronegative haemophiliac patients abnormal immune parameters have been demonstrated. In this review data on these abnormalities, their aetiology and clinical consequences are summarized and discussed. The data reviewed show abnormalities at different levels of the adaptive immune system. Mos

  20. Abnormal Behavior in Relation to Cage Size in Rhesus Monkeys

    Science.gov (United States)

    Paulk, H. H.; And Others

    1977-01-01

    Examines the effects of cage size on stereotyped and normal locomotion and on other abnormal behaviors in singly caged animals, whether observed abnormal behaviors tend to co-occur, and if the development of an abnormal behavior repertoire leads to reduction in the number of normal behavior categories. (Author/RK)

  1. The Spacing Principle for Unlearning Abnormal Neuronal Synchrony

    OpenAIRE

    Popovych, Oleksandr V.; Markos N Xenakis; Tass, Peter A.

    2015-01-01

    Desynchronizing stimulation techniques were developed to specifically counteract abnormal neuronal synchronization relevant to several neurological and psychiatric disorders. The goal of our approach is to achieve an anti-kindling, where the affected neural networks unlearn abnormal synaptic connectivity and, hence, abnormal neuronal synchrony, by means of desynchronizing stimulation, in particular, Coordinated Reset (CR) stimulation. As known from neuroscience, psychology and education, lear...

  2. Normal and abnormal lipid and lipoprotein metabolism

    African Journals Online (AJOL)

    2009-03-20

    Mar 20, 2009 ... energy but are transported or stored as triglyceride. ... acids for energy. ..... Green tea is usually thought of as preventing cancer, but green tea capsules ... of the University of Southern California gave mice with human multiple ...

  3. Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders.

    Science.gov (United States)

    Calogero, A E; Giagulli, V A; Mongioì, L M; Triggiani, V; Radicioni, A F; Jannini, E A; Pasquali, D

    2017-03-03

    Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6-3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4-17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9-17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear.

  4. Functional neuroimaging abnormalities in idiopathic generalized epilepsy

    Directory of Open Access Journals (Sweden)

    Megan L. McGill

    2014-01-01

    Full Text Available Magnetic resonance imaging (MRI techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA measures from diffusion tensor imaging (DTI and fractional amplitude of low frequency fluctuations (fALFF in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE.

  5. Abnormal Fixational Eye Movements in Amblyopia.

    Science.gov (United States)

    Shaikh, Aasef G; Otero-Millan, Jorge; Kumar, Priyanka; Ghasia, Fatema F

    2016-01-01

    Fixational saccades shift the foveal image to counteract visual fading related to neural adaptation. Drifts are slow eye movements between two adjacent fixational saccades. We quantified fixational saccades and asked whether their changes could be attributed to pathologic drifts seen in amblyopia, one of the most common causes of blindness in childhood. Thirty-six pediatric subjects with varying severity of amblyopia and eleven healthy age-matched controls held their gaze on a visual target. Eye movements were measured with high-resolution video-oculography during fellow eye-viewing and amblyopic eye-viewing conditions. Fixational saccades and drifts were analyzed in the amblyopic and fellow eye and compared with controls. We found an increase in the amplitude with decreased frequency of fixational saccades in children with amblyopia. These alterations in fixational eye movements correlated with the severity of their amblyopia. There was also an increase in eye position variance during drifts in amblyopes. There was no correlation between the eye position variance or the eye velocity during ocular drifts and the amplitude of subsequent fixational saccade. Our findings suggest that abnormalities in fixational saccades in amblyopia are independent of the ocular drift. This investigation of amblyopia in pediatric age group quantitatively characterizes the fixation instability. Impaired properties of fixational saccades could be the consequence of abnormal processing and reorganization of the visual system in amblyopia. Paucity in the visual feedback during amblyopic eye-viewing condition can attribute to the increased eye position variance and drift velocity.

  6. First trimester ultrasound screening of chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Trninić-Pjević Aleksandra

    2007-01-01

    Full Text Available Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT. Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF, was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down’s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

  7. DNA methylation abnormalities in congenital heart disease.

    Science.gov (United States)

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  8. Brain Abnormalities in Neuromyelitis Optica Spectrum Disorder

    Science.gov (United States)

    Kim, Woojun; Kim, Su-Hyun; Huh, So-Young; Kim, Ho Jin

    2012-01-01

    Neuromyelitis optica (NMO) is an idiopathic inflammatory syndrome of the central nervous system that is characterized by severe attacks of optic neuritis (ON) and myelitis. Until recently, NMO was considered a disease without brain involvement. However, since the discovery of NMO-IgG/antiaqaporin-4 antibody, the concept of NMO was broadened to NMO spectrum disorder (NMOSD), and brain lesions are commonly recognized. Furthermore, some patients present with brain symptoms as their first manifestation and develop recurrent brain symptoms without ON or myelitis. Brain lesions with characteristic locations and configurations can be helpful in the diagnosis of NMOSD. Due to the growing recognition of brain abnormalities in NMOSD, these have been included in the NMO and NMOSD diagnostic criteria or guidelines. Recent technical developments such as diffusion tensor imaging, MR spectroscopy, and voxel-based morphometry reveal new findings related to brain abnormalities in NMOSD that were not identified using conventional MRI. This paper focuses on the incidence and characteristics of the brain lesions found in NMOSD and the symptoms that they cause. Recent studies using advanced imaging techniques are also introduced. PMID:23259063

  9. Brain Abnormalities in Neuromyelitis Optica Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Woojun Kim

    2012-01-01

    Full Text Available Neuromyelitis optica (NMO is an idiopathic inflammatory syndrome of the central nervous system that is characterized by severe attacks of optic neuritis (ON and myelitis. Until recently, NMO was considered a disease without brain involvement. However, since the discovery of NMO-IgG/antiaqaporin-4 antibody, the concept of NMO was broadened to NMO spectrum disorder (NMOSD, and brain lesions are commonly recognized. Furthermore, some patients present with brain symptoms as their first manifestation and develop recurrent brain symptoms without ON or myelitis. Brain lesions with characteristic locations and configurations can be helpful in the diagnosis of NMOSD. Due to the growing recognition of brain abnormalities in NMOSD, these have been included in the NMO and NMOSD diagnostic criteria or guidelines. Recent technical developments such as diffusion tensor imaging, MR spectroscopy, and voxel-based morphometry reveal new findings related to brain abnormalities in NMOSD that were not identified using conventional MRI. This paper focuses on the incidence and characteristics of the brain lesions found in NMOSD and the symptoms that they cause. Recent studies using advanced imaging techniques are also introduced.

  10. Ergonomics for enhancing detection of machine abnormalities.

    Science.gov (United States)

    Illankoon, Prasanna; Abeysekera, John; Singh, Sarbjeet

    2016-10-17

    Detecting abnormal machine conditions is of great importance in an autonomous maintenance environment. Ergonomic aspects can be invaluable when detection of machine abnormalities using human senses is examined. This research outlines the ergonomic issues involved in detecting machine abnormalities and suggests how ergonomics would improve such detections. Cognitive Task Analysis was performed in a plant in Sri Lanka where Total Productive Maintenance is being implemented to identify sensory types that would be used to detect machine abnormalities and relevant Ergonomic characteristics. As the outcome of this research, a methodology comprising of an Ergonomic Gap Analysis Matrix for machine abnormality detection is presented.

  11. Environmentally toxicant exposures induced intragenerational transmission of liver abnormalities in mice

    Directory of Open Access Journals (Sweden)

    Mohamed A. Al-Griw

    2017-08-01

    Full Text Available Environmental toxicants such as chemicals, heavy metals, and pesticides have been shown to promote transgenerational inheritance of abnormal phenotypes and/or diseases to multiple subsequent generations following parental and/ or ancestral exposures. This study was designed to examine the potential transgenerational action of the environmental toxicant trichloroethane (TCE on transmission of liver abnormality, and to elucidate the molecular etiology of hepatocyte cell damage. A total of thirty two healthy immature female albino mice were randomly divided into three equal groups as follows: a sham group, which did not receive any treatment; a vehicle group, which received corn oil alone, and TCE treated group (3 weeks, 100 μg/kg i.p., every 4th day. The F0 and F1 generation control and TCE populations were sacrificed at the age of four months, and various abnormalities histpathologically investigated. Cell death and oxidative stress indices were also measured. The present study provides experimental evidence for the inheritance of environmentally induced liver abnormalities in mice. The results of this study show that exposure to the TCE promoted adult onset liver abnormalities in F0 female mice as well as unexposed F1 generation offspring. It is the first study to report a transgenerational liver abnormalities in the F1 generation mice through maternal line prior to gestation. This finding was based on careful evaluation of liver histopathological abnormalities, apoptosis of hepatocytes, and measurements of oxidative stress biomarkers (lipid peroxidation, protein carbonylation, and nitric oxide in control and TCE populations. There was an increase in liver histopathological abnormalities, cell death, and oxidative lipid damage in F0 and F1 hepatic tissues of TCE treated group. In conclusion, this study showed that the biological and health impacts of environmental toxicant TCE do not end in maternal adults, but are passed on to offspring

  12. The prevalence of chromosomal abnormalities in subgroups of infertile men.

    Science.gov (United States)

    Dul, E C; Groen, H; van Ravenswaaij-Arts, C M A; Dijkhuizen, T; van Echten-Arends, J; Land, J A

    2012-01-01

    The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of chromosomal abnormalities, possibly by using parameters other than sperm concentration. The aim of this study was to evaluate several clinical parameters in azoospermic and non-azoospermic men, in order to assess the prevalence of chromosomal abnormalities in different subgroups of infertile men. In a retrospective cohort of 1223 azoospermic men and men eligible for ICSI treatment, we studied sperm parameters, hormone levels and medical history for an association with chromosomal abnormalities. The prevalence of chromosomal abnormalities in the cohort was 3.1%. No association was found between chromosomal abnormalities and sperm volume, concentration, progressive motility or total motile sperm count. Azoospermia was significantly associated with the presence of a chromosomal abnormality [15.2%, odds ratio (OR) 7.70, P chromosomal abnormalities (OR 2.96, P = 0.013). Azoospermic men with a positive andrologic history had a lower prevalence of chromosomal abnormalities than azoospermic men with an uneventful history (OR 0.28, P = 0.047). In non-azoospermic men, we found that none of the studied variables were associated with the prevalence of chromosomal abnormalities. We show that the highest prevalence of chromosomal abnormalities is found in hypergonadotrophic azoospermic men with an uneventful andrologic history.

  13. Meiotic abnormalities and spermatogenic parameters in severe oligoasthenozoospermia.

    Science.gov (United States)

    Vendrell, J M; García, F; Veiga, A; Calderón, G; Egozcue, S; Egozcue, J; Barri, P N

    1999-02-01

    The incidence of meiotic abnormalities and their relationship with different spermatogenic parameters was assessed in 103 male patients with presumably idiopathic severe oligoasthenozoospermia (motile sperm concentration Meiotic patterns included normal meiosis and two meiotic abnormalities, i.e. severe arrest and synaptic anomalies. A normal pattern was found in 64 (62.1%), severe arrest in 21 (20.4%) and synaptic anomalies in 18 (17.5%). The overall rate of meiotic abnormalities was 37.9%. Most (66.7%) meiotic abnormalities occurred in patients with a sperm concentration meiotic abnormalities were found in 57.8% of the patients; of these, 26.7% had synaptic anomalies. When the sperm concentration was meiotic abnormalities occurred in 54.8% (synaptic anomalies in 22.6%). There were statistically significant differences among the three meiotic patterns in relation to sperm concentration (P 10 IU/l were the only predictors of meiotic abnormalities.

  14. Abnormal uterine bleeding: a clinicohistopathological analysis

    Directory of Open Access Journals (Sweden)

    Anupamasuresh Y

    2014-06-01

    Methods: In our prospective study of 359 Patients of the age between 46 and 73 years, clinical characteristics and the pattern of endometrial histopathology and their association in women, who present with abnormal uterine bleeding, are categorised into six groups. Results: In our study, a significant correlation of histopathology and BMI was observed with endometrial hyperplasia and malignancy in obese patient i.e. 37 out 96 and 13 out of 23 respectively. The incidence of malignancy has been increasing with the age being 1.6% in 46-50 years to 60% in 70-75 years. In our study 116 (32.3% had hypertension, 33 patients (9.2% had diabetes mellitus, 40 patients (11.1% had hypothyroidism. Conclusions: We found a maximum incidence of AUB in multiparous women. Clinicohistopathological analysis of AUB revealed endometrial hyperplasia in majority of patients. [Int J Reprod Contracept Obstet Gynecol 2014; 3(3.000: 656-661

  15. Kidney abnormalities in sickle cell disease.

    Science.gov (United States)

    López Revuelta, K; Ricard Andrés, M P

    2011-01-01

    Patients with sickle cell disease exhibits numerous kidney structural and functional abnormalities, changes that are seen along the entire length of the nephron. Changes are most marked in patients with homozygous sickle cell anemia, but are also seen in those with compound heterozygous states and the sickle cell trait. The renal features of sickle cell disease include some of the most common reasons for referral to nephrologists, such as hematuria, proteinuria, tubular disturbances and chronic kidney disease. Therapy of these conditions requires specialized knowledge of their distinct pathogenic mechanisms. Spanish Haemathology and Hemotherapy Association has recently publicated their Clinical Practice Guidelines of SCD management. Renal chapter is reproduced in this article for Nefrología difussion.

  16. Persistent Pain and Sensory Abnormalities after Abdominoplasty

    DEFF Research Database (Denmark)

    Presman, Benjamin; Finnerup, Kenneth; Andresen, Sven Robert

    2015-01-01

    and characteristics of persistent pain after abdominoplasty, which is one of the most frequent cosmetic surgical procedures. METHODS: In September 2014, a link to a web-based questionnaire was mailed to 217 patients who had undergone abdominoplasty between 2006 and 2014 at the Department of Plastic Surgery, Aalborg....... Fourteen patients (8.2%) reported pain within the past 7 days related to the abdominoplasty. Abnormal abdominal skin sensation was common and reported by 138 patients (81%). Sensory hypersensitivity was associated with the presence of persistent pain. Satisfaction with the procedure was reported by 149 (88...... sensation was common. However, there is a risk of developing persistent neuropathic pain after abdominoplasty, and patients should be informed about this before surgery....

  17. Abnormal Presentation of Choriocarcinoma and Literature Review

    Science.gov (United States)

    Yousefi, Zohreh; Mottaghi, Mansorhe; Rezaei, Alireza; Ghasemian, Sedighe

    2016-01-01

    Introduction Gestational trophoblastic neoplasms have highly been malignant potential, which usually occurred in child-bearing age women. Unusual feature of this malignancy would be rare, it was important to take in mind the possibility of GTN in different manifestation. Based on the above mentioned, the aim of this presentation would be the management and outcome of a case series of choriocarcinoma patients with abnormal manifestation. Case Presentation We have presented four patients, first who initially manifestation with signs of septic shock, the second case with severe gastrointestinal hemorrhage, the third case with postpartum infection and the forth case was a postmenopausal bleeding patient. Conclusions In case of metastatic choriocarcinoma with precise history, accurate diagnosis and appropriate treatment have led us to curable results. PMID:27482332

  18. [Ultrasonic diagnosis of congenital uterine abnormalities].

    Science.gov (United States)

    Funk, A; Fendel, H

    1988-01-01

    1-2% of women has abnormal uterine development due to nonunification of the Müllerian ducts in the embryonal period. At the RWTH Aachen, in the department of gynaecology and obstetrics, between January and June 1987, we had searched systematically for maldevelopment of the uterus in 2299 echosonografies. In 13 cases we found maldevelopment of internal genital; 5 of these cases were diagnosed by an echosonografic routine-examination. The echografic criteria of the different grades of uterine malformations have been determined, systematized and discussed in relation to the symptoms. The most frequent malformations as uterus subseptus, uterus septus, uterus bicornis and uterus duplex are subject of a detailed discussion. This work demonstrates that echosonografic is a very efficient instrument to diagnose uterine malformations and gives us a very exact anatomic interpretation of malformations.

  19. "Idiopathic" mental retardation and new chromosomal abnormalities.

    Science.gov (United States)

    Galasso, Cinzia; Lo-Castro, Adriana; El-Malhany, Nadia; Curatolo, Paolo

    2010-02-14

    Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition.

  20. Computed tomography of the abnormal thymus

    Energy Technology Data Exchange (ETDEWEB)

    Baron, R.L.; Lee, J.K.T.; Sagel, S.S.; Levitt, R.G.

    1982-01-01

    Computed tomography (CT) should be the imaging method of choice following plain chest radiographs when a suspected thymic abnormality requires further evaluation. Based upon a six-year experience, including the evaluation of 25 patients with thymic pathology, CT was found useful in suggesting or excluding a diagnosis of thymoma and in distinguishing thymic hyperplasis from thymoma in patients with myasthenia gravis. The thickness of the thymic lobes determined by CT was found to be a more accurate indicator of infiltrative disease (thymic hyperplasia and lymphoma) than the width. CT was helpful in differentiating benign thymic cysts from solid tumors, and in defining the extent of a thymic neoplasms. On occasion, CT may suggest the specific histologic nature of a thymic lesion.

  1. Residual gait abnormalities in surgically treated spondylolisthesis.

    Science.gov (United States)

    Shelokov, A; Haideri, N; Roach, J

    1993-11-01

    The authors retrospectively studied seven patients who had in situ fusion as adolescents for high-grade (IV, V) spondylolisthesis unresponsive to more conservative means. All patients achieved solid bony union; their pain was relieved; and hamstring spasm had resolved. The authors sought to determine whether crouch gait or any other abnormalities could be demonstrated in patients exhibiting clinical parameters of success. Each patient underwent gait analysis, radiographic analysis, and a physical examination. Four of seven patients demonstrated slight degrees of forward trunk lean during varying phases of gait accompanied by increased hip flexion. One patient demonstrated increased trunk extension accompanied by limited hip flexion. Two patients were essentially normal. The authors were unable to quantify residual crouch in these patients with solidly fused high-grade spondylolisthesis.

  2. Neurostructural Abnormalities in Pediatric Anxiety Disorders

    Science.gov (United States)

    Strawn, Jeffrey R.; Hamm, Lisa; Fitzgerald, Daniel A.; Fitzgerald, Kate D.; Monk, Christopher S.; Phan, K. Luan

    2015-01-01

    Functional neuroimaging studies have consistently demonstrated abnormalities in fear and threat processing systems in youth with anxiety disorders; however, the structural neuroanatomy of these systems in children and adolescents remains largely unknown. Using voxel-based morphometry (VBM), gray matter volumes were compared between 38 medication-free patients with anxiety disorders (generalized anxiety disorder; social phobia; separation anxiety disorder, mean age: 14.4 ± 3 years) and 27 comparison subjects (mean age: 14.8 ± 4 years). Compared to healthy subjects, youth with anxiety disorders had larger gray matter volumes in the dorsal anterior cingulate and had decreased gray matter volumes in the inferior frontal gyrus (ventrolateral prefrontal cortex), postcentral gyrus, and cuneus/precuneus. These data suggest the presence of structural differences in regions previously implicated in the processing and regulation of fear in pediatric patients with anxiety disorders. PMID:25890287

  3. States of 13C with abnormal radii

    Directory of Open Access Journals (Sweden)

    Demyanova A.S.

    2016-01-01

    Full Text Available Differential cross-sections of the elastic and inelastic 13C + α scattering were measured at E(α = 90 MeV. The root mean-square radii( of 13C nucleus in the states: 8.86 (1/2−, 3.09 (1/2+ and 9.90 (3/2− MeV were determined by the Modified diffraction model (MDM. The radii of the first two levels are enhanced compared to that of the ground state of 13C, confirming the suggestion that the 8.86 MeV state is an analogue of the Hoyle state in 12C and the 3.09 MeV state has a neutron halo. Some indications to the abnormally small size of the 9.90 MeV state were obtained.

  4. Skeletal muscle abnormalities in patients with fibromyalgia.

    Science.gov (United States)

    Olsen, N J; Park, J H

    1998-06-01

    Widespread muscle pain and tender points are the most common complaints of fibromyalgia patients, and the underlying mechanisms responsible for these symptoms have been studied intensively during the past decade. It has been suggested that fatigue and pain may lead to decreased levels of physical activity in many patients. The resulting deconditioned state may itself contribute to muscle abnormalities. Associated symptoms such as disturbed sleep, anxiety, depression, or irritable bowel also may have a negative impact on muscle function and level of daily activities. The important interactions between the central nervous and musculoskeletal systems may involve another element, the neuroendocrine stress-response system. This review will consider both the current state of knowledge and also future studies which might be designed to answer more effectively the outstanding questions regarding the underlying pathogenesis of fibromyalgia.

  5. Eye-head coordination abnormalities in schizophrenia.

    Directory of Open Access Journals (Sweden)

    Simon Schwab

    Full Text Available BACKGROUND: Eye-movement abnormalities in schizophrenia are a well-established phenomenon that has been observed in many studies. In such studies, visual targets are usually presented in the center of the visual field, and the subject's head remains fixed. However, in every-day life, targets may also appear in the periphery. This study is among the first to investigate eye and head movements in schizophrenia by presenting targets in the periphery of the visual field. METHODOLOGY/PRINCIPAL FINDINGS: Two different visual recognition tasks, color recognition and Landolt orientation tasks, were presented at the periphery (at a visual angle of 55° from the center of the field of view. Each subject viewed 96 trials, and all eye and head movements were simultaneously recorded using video-based oculography and magnetic motion tracking of the head. Data from 14 patients with schizophrenia and 14 controls were considered. The patients had similar saccadic latencies in both tasks, whereas controls had shorter saccadic latencies in the Landolt task. Patients performed more head movements, and had increased eye-head offsets during combined eye-head shifts than controls. CONCLUSIONS/SIGNIFICANCE: Patients with schizophrenia may not be able to adapt to the two different tasks to the same extent as controls, as seen by the former's task-specific saccadic latency pattern. This can be interpreted as a specific oculomotoric attentional dysfunction and may support the hypothesis that schizophrenia patients have difficulties determining the relevance of stimuli. Patients may also show an uneconomic over-performance of head-movements, which is possibly caused by alterations in frontal executive function that impair the inhibition of head shifts. In addition, a model was created explaining 93% of the variance of the response times as a function of eye and head amplitude, which was only observed in the controls, indicating abnormal eye-head coordination in patients

  6. Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement

    Energy Technology Data Exchange (ETDEWEB)

    Fano, V.; Lejarraga, H. [Hospital Garrahan, Buenos Aires (Argentina). Service of Growth and Development; Barreiro, C. [Hospital Garrahan, Buenos Aires (Argentina). Service of Genetics

    2001-01-01

    A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age. (orig.)

  7. Spin multiplicities

    Energy Technology Data Exchange (ETDEWEB)

    Curtright, T.L., E-mail: curtright@miami.edu [Department of Physics, University of Miami, Coral Gables, FL 33124-8046 (United States); Van Kortryk, T.S., E-mail: vankortryk@gmail.com [Department of Physics, University of Miami, Coral Gables, FL 33124-8046 (United States); High Energy Physics Division, Argonne National Laboratory, Argonne, IL 60439-4815 (United States); Zachos, C.K., E-mail: zachos@anl.gov [Department of Physics, University of Miami, Coral Gables, FL 33124-8046 (United States); High Energy Physics Division, Argonne National Laboratory, Argonne, IL 60439-4815 (United States)

    2017-02-05

    The number of times spin s appears in the Kronecker product of n spin j representations is computed, and the large n asymptotic behavior of the result is obtained. Applications are briefly sketched. - Highlights: • We give a self-contained derivation of the spin multiplicities that occur in n-fold tensor products of spin-j representations. • We make use of group characters, properties of special functions, and asymptotic analysis of integrals. • We emphasize patterns that arise when comparing different values of j, and asymptotic behavior for large n. • Our methods and results should be useful for various statistical and quantum information theory calculations.

  8. Abnormal lateral geniculate nucleus and optic chiasm in human albinism.

    Science.gov (United States)

    Mcketton, Larissa; Kelly, Krista R; Schneider, Keith A

    2014-08-01

    Our objective was to measure how the misrouting of retinal ganglion cell (RGC) fibers affects the organization of the optic chiasm and lateral geniculate nuclei (LGN) in human albinism. We compared the chiasmal structures and the LGN in both pigmented controls and patients with albinism by using high-resolution structural magnetic resonance imaging (MRI). We studied 12 patients with oculocutaneous albinism and 12 age-matched pigmented controls. Using a 3T MRI scanner, we acquired a T1 -weighted three-dimensional magnetization-prepared rapid gradient-echo (MPRAGE) image of the whole brain, oriented so that the optic nerves, chiasm, and tracts were in the same plane. We acquired multiple proton density-weighted images centered on the thalamus and midbrain, and averaged them to increase the signal, enabling precise manual tracing of the anatomical boundaries of the LGN. Albinism patients exhibited significantly smaller diameters of the optic nerves, chiasm and tracts, and optic chiasm and LGN volume compared with controls (P albinism compared with the control group can be attributed to the abnormal crossing of optic fibers and the reduction of RGCs in the central retina. The volume of the LGN devoted to the center of the visual field may be reduced in albinism due to fewer RGCs representing the area where the fovea would normally lie. Our data may be clinically useful in addressing how genetic deficits compromise proper structural and functional development in the brain.

  9. Abnormal placentation, angiogenic factors, and the pathogenesis of preeclampsia.

    Science.gov (United States)

    Silasi, Michelle; Cohen, Bruce; Karumanchi, S Ananth; Rana, Sarosh

    2010-06-01

    Preeclampsia is a common complication of pregnancy with potentially devastating consequences to both the mother and the baby.It is the leading cause of maternal deaths in developing countries. In developed countries it is the major cause of iatrogenic premature delivery and contributes significantly to increasing health care cost associated with prematurity. There is currently no known treatment for preeclampsia; ultimate treatment involves delivery of the placenta. Although there are several risk factors (such as multiple gestation or chronic hypertension), most patients present with no obvious risk factors. The molecular pathogenesis of preeclampsia is just now being elucidated. It has been proposed that abnormal placentation and an imbalance in angiogenic factors lead to the clinical findings and complications seen in preeclampsia. Preeclampsia is characterized by high levels of circulating antiangiogenic factors such as soluble fms-like tyrosine kinase-1 and soluble endoglin, which induce maternal endothelial dysfunction. These soluble factors are altered not only at the time of clinical disease but also several weeks before the onset of clinical signs and symptoms. Many methods of prediction and surveillance have been proposed to identify women who will develop preeclampsia, but studies have been inconclusive. With the recent discovery of the role of angiogenic factors in preeclampsia, novel methods of prediction and diagnosis are being developed to aid obstetricians and midwives in clinical practice. This article discusses the role of angiogenic factors in the pathogenesis, prediction, diagnosis, and possible treatment of preeclampsia.

  10. Morning glory syndrome associated with multiple sclerosis.

    Directory of Open Access Journals (Sweden)

    Anahid Safari

    2014-09-01

    Full Text Available Morning glory syndrome (MGS is a rare congenital optic disc anomaly characterized by a funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary disturbance. The main ophthalomoscopic feature of the MGS is enlarged optic disc with a funnel shaped scleral defect; elevated peripapillary chorioretinal pigmentation; and pale fluffy tissue of glial hyperplasia overlying the optic disc. Although most of the reported cases were isolated ocular abnormality, but it may occurs in association with other ophthalmic abnormalities such as cyst of the optic nerve atrophy, congenital cataract, microophthalmos, and aniridia. Craniofacial deformities such as cleft lip and palate, hypertelorism, dysplatic ears; renal abnormalities; and cardiac defects have also been reported with MGS. Herein, we present a case of MGS associated with multiple sclerosis - a rather unusual concurrence.

  11. Increased stathmin1 expression in the dentate gyrus of mice causes abnormal axonal arborizations.

    Directory of Open Access Journals (Sweden)

    Kohei Yamada

    Full Text Available Pituitary adenylate cyclase-activating polypeptide (PACAP is involved in multiple brain functions. To clarify the cause of abnormal behavior in PACAP deficient-mice, we attempted the identification of genes whose expression was altered in the dentate gyrus of PACAP-deficient mice using the differential display method. Expression of stathmin1 was up-regulated in the dentate gyrus at both the mRNA and protein levels. PACAP stimulation inhibited stathmin1 expression in PC12 cells, while increased stathmin1expression in neurons of the subgranular zone and in primary cultured hippocampal neurons induced abnormal arborization of axons. We also investigated the pathways involved in PACAP deficiency. Ascl1 binds to E10 box of the stathmin1 promoter and increases stathmin1 expression. Inhibitory bHLH proteins (Hes1 and Id3 were rapidly up-regulated by PACAP stimulation, and Hes1 could suppress Ascl1 expression and Id3 could inhibit Ascl1 signaling. We also detected an increase of stathmin1 expression in the brains of schizophrenic patients. These results suggest that up-regulation of stathmin1 in the dentate gyrus, secondary to PACAP deficiency, may create abnormal neuronal circuits that cause abnormal behavior.

  12. Risk of metastasis among rib abnormalities on bone scans in breast cancer patients

    Science.gov (United States)

    Li, Qin; Chen, Zhiqiang; Zhao, Yansheng; Li, Xiuqing; Pan, Hong; Xia, Tiansong; Chen, Lin; Xu, Zhaoqiang; Zhou, Wenbin; Liu, Xiaoan

    2015-01-01

    Bone scan abnormalities, especially rib lesions, are often confusing for physicians due to a high number of false-positive lesions. This study investigated risk factors that are associated with bone metastasis in 613 breast cancer patients with bone scan abnormalities. Significantly increased rates of bone metastasis were observed in patients with multiple lesions, large tumor sizes, and lymph node involvement. In addition, patients with concurrent lesions of rib and other sites exhibited a significant higher rate of metastatic disease compared to those with other site lesions (P = 0.009). In the subset of 324 patients with rib abnormalities, the rate of metastasis was extremely low in patients with pure rib lesions (1.2%; 95% CI: 0.1%–4.1%). Concurrent lesions of rib and other sites were more likely to be rib metastasis compared to pure rib lesions (P rib lesions and lesions located on bilateral ribs were more likely to be rib metastasis (P rib abnormalities could be recommended for follow-up only. However, if concurrent lesions of rib and other sites were detected on bone scans, additional radiological examinations should be performed to patients. PMID:25939860

  13. [Clinical and cytogenetic analysis of patients with lymphoid malignancies carrying 14q32 abnormality].

    Science.gov (United States)

    Liu, S; Qin, S; Wang, J

    2001-11-01

    To investigate the clinical and cytogenetic characteristics of patients with lymphoid malignancies (LM) harboring 14q32 abnormalities. The cases with 14q32 aberrations in 225 patients with various LM were analyzed by clinical data. Fifteen (6.67%) patients with abnormalities involving 14q32 were found and the pattern of 14q32 aberration was associated with different types of LM. t(8;14)(q24;q32) was the commonest karyotypic aberration and predominant in acute leukemias. There was no consistent profile morphologically and immunophenotypically in the involving leukemias, however there were common clinical and prognostic features and often with an additional characteristic abnormality of ins(1;6)(q11;q23q27). One case of myelodysplasia (MDS) secondary to multiple myeloma displayed t(7;14)(q34;q32) in primary clone and additional 7q- and 20q- in derivative clone that was frequently involved in MDS. 14q32 abnormalities and additional chromosomal alterations can facilitate the diagnosis and prognostic assessment for the involving LMs.

  14. scMRI reveals large-scale brain network abnormalities in autism.

    Directory of Open Access Journals (Sweden)

    Brandon A Zielinski

    Full Text Available Autism is a complex neurological condition characterized by childhood onset of dysfunction in multiple cognitive domains including socio-emotional function, speech and language, and processing of internally versus externally directed stimuli. Although gross brain anatomic differences in autism are well established, recent studies investigating regional differences in brain structure and function have yielded divergent and seemingly contradictory results. How regional abnormalities relate to the autistic phenotype remains unclear. We hypothesized that autism exhibits distinct perturbations in network-level brain architecture, and that cognitive dysfunction may be reflected by abnormal network structure. Network-level anatomic abnormalities in autism have not been previously described. We used structural covariance MRI to investigate network-level differences in gray matter structure within two large-scale networks strongly implicated in autism, the salience network and the default mode network, in autistic subjects and age-, gender-, and IQ-matched controls. We report specific perturbations in brain network architecture in the salience and default-mode networks consistent with clinical manifestations of autism. Extent and distribution of the salience network, involved in social-emotional regulation of environmental stimuli, is restricted in autism. In contrast, posterior elements of the default mode network have increased spatial distribution, suggesting a 'posteriorization' of this network. These findings are consistent with a network-based model of autism, and suggest a unifying interpretation of previous work. Moreover, we provide evidence of specific abnormalities in brain network architecture underlying autism that are quantifiable using standard clinical MRI.

  15. [Multiple apheresis].

    Science.gov (United States)

    Coffe, C

    2007-05-01

    Multiple apheresis makes it possible to obtain at least two labile blood components from a single donor using a cell separator. It can be either multicomponent apheresis leading to the preparation of at least two different blood component types or red blood cell apheresis providing two identical red blood cell concentrates. These techniques available in addition to whole blood donation, are modifying collection strategies in many Etablissements Français du Sang and will contribute to improve stock logistics in the future. In areas with insufficient stock, these procedures will help achieve blood component self-sufficiency. The author first describes the principle underlying different--current or future--techniques as well as their advantages and drawbacks. He finally addresses the potential impact of these processes on the evolution of blood collection and the advantages to be gained.

  16. Prenatal diagnosis in multiple pregnancy.

    Science.gov (United States)

    Taylor, M J; Fisk, N M

    2000-08-01

    Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres. Copyright 2000 Harcourt Publishers Ltd.

  17. Lymphoblastic lymphoma involving multiple vertebrae.

    Science.gov (United States)

    Li, Da; Xu, Yu-Lun; Wu, Zhen

    2017-09-26

    Acute lymphoblastic lymphoma (ALL) was a malignant hematological disease in childhood but rarely, initially involved epidural compartment in adult. A 20-year-old male presented with progressive osphyalgia for 2 months and left lower motor weakness for 2 weeks with constipation. Physical examination revealed decreased muscle strength and numbness of left lower limb, and abnormal gait. Contrasted MRI showed multiple vertebrae of hypointense T1 signals (C2/C4/C7/T5/T8/T9/T12/L2/L4) and an intraspinal epidural lesion (L2-4). Subtotal resection was achieved. Histopathology suggested malignant B-cell lymphoma with Ki-67 of 90% and positivity of leukocyte common antigen (LCA). A bone marrow biopsy was unequivocally diagnostic of B-cell ALL followed by chemotherapy (Methotrexate) and partial recovery was observed. The present case was the oldest patient with epidural ALL. The radiographic changes in multiple vertebrae suggested metabolic, hematological, or granulomatous disease. The marrow biopsy was necessary if without hypercalcemia and abnormal peripheral blood examination. Accurate pathological diagnosis was essential. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Elevated frequency of abnormalities in barn swallows from Chernobyl.

    Science.gov (United States)

    Møller, A P; Mousseau, T A; de Lope, F; Saino, N

    2007-08-22

    Ever since the Chernobyl accident in 1986, that contaminated vast areas in surrounding countries with radiation, abnormalities and birth defects have been reported in human populations. Recently, several studies suggested that the elevated frequency of such abnormalities can be attributed to poverty and stress in affected human populations. Here, we present long-term results for a free-living population of barn swallows, Hirundo rustica, demonstrating the presence of 11 morphological abnormalities in populations around Chernobyl, but much less frequently in an uncontaminated Ukrainian control population and three more distant control populations. The presence of these abnormalities in barn swallows is associated with reduced viability. These findings demonstrate a link between morphological abnormalities and radiation in an animal population that cannot be attributed to poverty and stress. The most parsimonious hypothesis for abnormalities in animal and human populations alike is that the effects are caused by the same underlying cause, viz. radiation derived from the Chernobyl accident.

  19. Abnormal grain growth in undoped strontium and barium titanate

    Energy Technology Data Exchange (ETDEWEB)

    Baeurer, M., E-mail: m.baeurer@ikm.uka.de [Institut fuer Keramik im Maschinenbau, Universitaet Karlsruhe, Karlsruhe (Germany); Shih, S.-J.; Bishop, C. [Department of Materials, University of Oxford, Oxford (United Kingdom); Harmer, M.P. [Center for Advanced Materials and Nanotechnology, Lehigh University, Bethlehem, PA (United States); Cockayne, D. [Department of Materials, University of Oxford, Oxford (United Kingdom); Hoffmann, M.J. [Institut fuer Keramik im Maschinenbau, Universitaet Karlsruhe, Karlsruhe (Germany)

    2010-01-15

    Abnormal grain growth is a commonly observed phenomenon in perovskite materials. In order to study this phenomenon, grain growth experiments were conducted over a temperature range from 1425 to 1600 deg. C for the model system SrTiO{sub 3} to analyse the nucleation of abnormal grains and to identify the growth mechanism involved for normal and abnormal grains. Grain boundaries of normal and abnormal grains were investigated in quenched samples by high-resolution transmission electron microscopy and by energy-dispersive spectroscopy in a scanning transmission electron microscope. No amorphous film was observed at the grain boundaries for either normal or abnormal grains. Non-stoichiometry at the grain boundaries was identified as a possible reason for the differences in growth speed. The results are compared to the nucleation and growth of abnormal grains in BaTiO{sub 3}.

  20. Molecular abnormalities of the hippocampus in severe psychiatric illness: postmortem findings from the Stanley Neuropathology Consortium.

    Science.gov (United States)

    Knable, Michael B; Barci, Beata M; Webster, Maree J; Meador-Woodruff, James; Torrey, E Fuller

    2004-06-01

    Between 1997 and 2002, 48 data sets from the hippocampus were produced on samples from the Stanley Neuropathology Consortium. From these data sets, 224 total measures were available from the various subdivisions of the hippocampus. An integrative analysis of these measures was performed using a multivariate, nonparametric analysis of variance (ANOVA). ANOVA with correction for multiple comparisons indicated that parvalbumin-containing cells in CA2 were reduced in schizophrenia and bipolar disorder. In addition, reelin protein in the molecular layer of the dentate gyrus was decreased in schizophrenia, bipolar disorder, and depression at the trend level of statistical significance (P=0.065). These results strongly suggest a dysfunction of inhibitory GABA-ergic interneurons in severe mental illness. Without correction for multiple comparisons, 31 measures were abnormal in at least one disease, whereas 11 measures would be expected to appear abnormal by chance. Abnormal molecules included measures of synaptic density or neuronal plasticity (reelin, SNAP-25, BDNF, Complexin I and II), as well as parvalbumin, tyrosine receptor kinase A, glucocorticoid receptors, glutamate NR1 receptor subunits, serotonin 5HT2(A) and 5HT1(B) receptors, and dopamine D(5) receptors.

  1. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

    Energy Technology Data Exchange (ETDEWEB)

    Tueysuez, Beyhan [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Gazioglu, Nurperi [Istanbul University, Department of Neurosurgery, Cerrahpasa Medical School, Istanbul (Turkey); Uenguer, Savas [Istanbul University, Department of Pediatric Radiology, Cerrahpasa Medical School, Istanbul (Turkey); Aji, Dolly Yafet [Istanbul University, Department of Pediatrics, Cerrahpasa Medical School, Istanbul (Turkey); Tuerkmen, Seval [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Universitatsklinikum Berlin, Charite Virchow-Klinik, Berlin (Germany)

    2009-01-15

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. (orig.)

  2. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

    Science.gov (United States)

    Tüysüz, Beyhan; Gazioğlu, Nurperi; Ungür, Savaş; Aji, Dolly Yafet; Türkmen, Seval

    2009-01-01

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered.

  3. Abnormal Bleeding During Menopause Hormone Therapy: Insights for Clinical Management

    OpenAIRE

    2013-01-01

    Objective Our objective was to review the involved mechanisms and propose actions for controlling/treating abnormal uterine bleeding during climacteric hormone therapy. Methods A systemic search of the databases SciELO, MEDLINE, and Pubmed was performed for identifying relevant publications on normal endometrial bleeding, abnormal uterine bleeding, and hormone therapy bleeding. Results Before starting hormone therapy, it is essential to exclude any abnormal organic condition, identify women a...

  4. Hematological abnormalities in severe anorexia nervosa.

    Science.gov (United States)

    Sabel, Allison L; Gaudiani, Jennifer L; Statland, Barbara; Mehler, Philip S

    2013-05-01

    Little is known about the prevalence of hematologic abnormalities in adults with severe anorexia nervosa. We report the first major analysis of hematologic dysfunction in such patients. We retrospectively analyzed the charts of 53 men and women with severe anorexia nervosa, admitted between October 2008 and December 2010 for medical stabilization to our center, which has a national referral base. Patients were predominantly female (89 %), with a median age of 28 years (range 17-65), and were hospitalized for a median duration of 15 days (I.Q.R. 9-29). Nadir body mass index during hospitalization was markedly low at 12.4 kg/m(2) (range 8.4-15.7), and the mean discharge BMI was 13.8 kg/m(2) (range 10.2-16.8). 83 % of patients were anemic (hematocrit  400 k/μL) during their hospitalization. Eighty-nine percent of patients had resolved their neutropenia by discharge. Marked hematologic deficiencies are often present in patients with severe anorexia nervosa, generally attributed to starvation-mediated gelatinous marrow transformation which resolves with proper nutritional rehabilitation. Improved provider awareness of this association may reduce unnecessary testing and costly treatment interventions.

  5. Gait abnormalities following slipped capital femoral epiphysis.

    Science.gov (United States)

    Song, Kit M; Halliday, Suzanne; Reilly, Chris; Keezel, William

    2004-01-01

    The authors evaluated 30 subjects with treated unilateral slipped capital femoral epiphysis and a range of severity from mild to severe to characterize gait and strength abnormalities using instrumented three-dimensional gait analysis and isokinetic muscle testing. For slip angles less than 30 degrees, kinematic, kinetic, and strength variables were not significantly different from age- and weight-matched controls. For moderate to severe slips, as slip angle increased, passive hip flexion, hip abduction, and internal rotation in the flexed and extended positions decreased significantly. Persistent pelvic obliquity, medial lateral trunk sway, and trunk obliquity in stance increased, as did extension, adduction, and external rotation during gait. Gait velocity and step length decreased with increased amount of time spent in double limb stance. Hip abductor moment, hip extension moment, knee flexion moment, and ankle dorsiflexion moment were all decreased on the involved side. Hip and knee strength also decreased with increasing slip severity. All of these changes were present on the affected and to a lesser degree the unaffected side. Body center of mass translation or pelvic obliquity in mid-stance greater than one standard deviation above normal correlated well with the impression of compensated or uncompensated Trendelenburg gait.

  6. Abnormal hopping conduction in semiconducting polycrystalline graphene

    Science.gov (United States)

    Park, Jeongho; Mitchel, William C.; Elhamri, Said; Grazulis, Larry; Altfeder, Igor

    2013-07-01

    We report the observation of an abnormal carrier transport phenomenon in polycrystalline semiconducting graphene grown by solid carbon source molecular beam epitaxy. At the lowest temperatures in samples with small grain size, the conduction does not obey the two-dimensional Mott-type variable-range hopping (VRH) conduction often reported in semiconducting graphene. The hopping exponent p is found to deviate from the 1/3 value expected for Mott VRH with several samples exhibiting a p=2/5 dependence. We also show that the maximum energy difference between hopping sites is larger than the activation energy for nearest-neighbor hopping, violating the assumptions of the Mott model. The 2/5 dependence more closely agrees with the quasi-one-dimensional VRH model proposed by Fogler, Teber, and Shklovskii (FTS). In the FTS model, conduction occurs by tunneling between neighboring metallic wires. We suggest that metallic edge states and conductive grain boundaries play the role of the metallic wires in the FTS model.

  7. Control of Abnormal Synchronization in Neurological Disorders

    Directory of Open Access Journals (Sweden)

    Oleksandr V. Popovych

    2014-12-01

    Full Text Available In the nervous system synchronization processes play an important role, e.g., in the context of information processing and motor control. However, pathological, excessive synchronization may strongly impair brain function and is a hallmark of several neurological disorders. This focused review addresses the question of how an abnormal neuronal synchronization can specifically be counteracted by invasive and non-invasive brain stimulation as, for instance, by deep brain stimulation for the treatment of Parkinson's disease, or by acoustic stimulation for the treatment of tinnitus. On the example of coordinated reset (CR neuromodulation we illustrate how insights into the dynamics of complex systems contribute to successful model-based approaches, which use methods from synergetics, nonlinear dynamics, and statistical physics, for the development of novel therapies for normalization of brain function and synaptic connectivity. Based on the intrinsic multistability of the neuronal populations induced by spike timing-dependent plasticity (STDP,CR neuromodulation utilizes the mutual interdependence between synaptic connectivity and dynamics of the neuronal networks in order to restore more physiological patterns of connectivity via desynchronization of neuronal activity. The very goal is to shift the neuronal population by stimulation from anabnormally coupled and synchronized state to a desynchronized regime with normalized synaptic connectivity, which significantly outlasts the stimulation cessation, so that long-lasting therapeutic effects can be achieved.

  8. Electroencephalographic abnormalities in antisocial personality disorder.

    Science.gov (United States)

    Calzada-Reyes, Ana; Alvarez-Amador, Alfredo; Galán-García, Lídice; Valdés-Sosa, Mitchell

    2012-01-01

    The presence of brain dysfunction in violent offenders has been frequently examined with inconsistent results. The aim of the study was to assess the EEG of 84 violent offenders by visual inspection and frequency-domain quantitative analysis in 84 violent prisoners. Low-resolution electromagnetic tomography (LORETA) was also employed for theta band of the EEG spectra. Antisocial personality disorder (ASPD) was present in 50 of the offenders and it was absent in the remaining 34. The prevalence of EEG abnormalities, by visual inspection, was similar for both the ASPD group (82%) and non-ASPD group (79%). The brain topography of these anomalies also did not differ between groups, in contrast to results of the EEG quantitative analysis (QEEG) and LORETA that showed remarkable regional differences between both groups. QEEG analysis showed a pattern of excess of theta-delta activities and decrease of alpha band on the right fronto-temporal and left temporo-parietal regions in the ASPD group. LORETA signified an increase of theta activity (5.08 Hz) in ASPD group relative to non-ASPD group within left temporal and parietal regions. Findings indicate that QEEG analysis and techniques of source localization may reveal differences in brain electrical activity among offenders with ASPD, which was not obvious to visual inspection.

  9. Imaging findings in fetal diaphragmatic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor; Gudinchet, Francois [University Hospital Center of Lausanne, Unit of Radiopediatrics, Department of Radiology, Lausanne (Switzerland); Meuli, Reto [University Hospital Center of Lausanne, Department of Radiology, Lausanne (Switzerland)

    2015-12-15

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. (orig.)

  10. Salivary abnormalities in Prader-Willi Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hart, S.; Poshva, C. [Bowman Gray School of Medicine, Winston-Salem, NC (United States)

    1994-09-01

    Although abnormal saliva is a well documented finding in PWS, little is known about the saliva in these individuals. We have recently undertaken a study to characterize the salivary composition from PW patients and to see if there is any correlation with their underlying molecular diagnosis (deletion vs. disomy). We have collected whole saliva on 3 patients; 2 had normal high-resolution karyotype analysis (Cases 1 & 3) and 1 had a deletion of 15q11q13 (Case 3). For all parameters, Case 3`s values were notably different from those of his unaffected sibling. The salivary flow rates and concentrations for all 3 PW patients are similar and are significantly different from normal controls (mean {plus_minus} SE) (p<0.05). Although this data is from only 3 PW patients, it provides valuable information. First, decreased flow appears to be due to an effect of PWS and not medications since Cases 2 & 3 are not on any medications. Second, decreased flow appears to be present in younger as well as older individuals. Third, deviations from normal in the salivary composition are evident. It is possible that these alterations are concentration effects relative to a decrease in flow rate. We are currently obtaining saliva from more PW individuals to see if these alterations are present in all PW patients and whether they can be applied as a screening test.

  11. Abnormal tyrosine metabolism in chronic cluster headache.

    Science.gov (United States)

    D'Andrea, Giovanni; Leone, Massimo; Bussone, Gennaro; Fiore, Paola Di; Bolner, Andrea; Aguggia, Marco; Saracco, Maria Gabriella; Perini, Francesco; Giordano, Giuseppe; Gucciardi, Antonina; Leon, Alberta

    2017-02-01

    Objective Episodic cluster headache is characterized by abnormalities in tyrosine metabolism (i.e. elevated levels of dopamine, tyramine, octopamine and synephrine and low levels of noradrenalin in plasma and platelets.) It is unknown, however, if such biochemical anomalies are present and/or constitute a predisposing factor in chronic cluster headache. To test this hypothesis, we measured the levels of dopamine and noradrenaline together with those of elusive amines, such as tyramine, octopamine and synephrine, in plasma of chronic cluster patients and control individuals. Methods Plasma levels of dopamine, noradrenaline and trace amines, including tyramine, octopamine and synephrine, were measured in a group of 23 chronic cluster headache patients (10 chronic cluster ab initio and 13 transformed from episodic cluster), and 16 control participants. Results The plasma levels of dopamine, noradrenaline and tyramine were several times higher in chronic cluster headache patients compared with controls. The levels of octopamine and synephrine were significantly lower in plasma of these patients with respect to control individuals. Conclusions These results suggest that anomalies in tyrosine metabolism play a role in the pathogenesis of chronic cluster headache and constitute a predisposing factor for the transformation of the episodic into a chronic form of this primary headache.

  12. Abnormal parietal function in conversion paresis.

    Directory of Open Access Journals (Sweden)

    Marije van Beilen

    Full Text Available The etiology of medically unexplained symptoms such as conversion disorder is poorly understood. This is partly because the interpretation of neuroimaging results in conversion paresis has been complicated by the use of different control groups, tasks and statistical comparisons. The present study includes these different aspects in a single data set. In our study we included both normal controls and feigners to control for conversion paresis. We studied both movement execution and imagery, and we contrasted both within-group and between-group activation. Moreover, to reveal hemisphere-specific effects that have not been reported before, we performed these analyses using both flipped and unflipped data. This approach resulted in the identification of abnormal parietal activation which was specific for conversion paresis patients. Patients also showed reduced activity in the prefrontal cortex, supramarginal gyrus and precuneus, including hemisphere-specific activation that is lateralized in the same hemisphere, regardless of right- or left-sided paresis. We propose that these regions are candidates for an interface between psychological mechanisms and disturbed higher-order motor control. Our study presents an integrative neurophysiological view of the mechanisms that contribute to the etiology of this puzzling psychological disorder, which can be further investigated with other types of conversion symptoms.

  13. Abnormal Parietal Function in Conversion Paresis

    Science.gov (United States)

    van Beilen, Marije; de Jong, Bauke M.; Gieteling, Esther W.; Renken, Remco; Leenders, Klaus L.

    2011-01-01

    The etiology of medically unexplained symptoms such as conversion disorder is poorly understood. This is partly because the interpretation of neuroimaging results in conversion paresis has been complicated by the use of different control groups, tasks and statistical comparisons. The present study includes these different aspects in a single data set. In our study we included both normal controls and feigners to control for conversion paresis. We studied both movement execution and imagery, and we contrasted both within-group and between-group activation. Moreover, to reveal hemisphere-specific effects that have not been reported before, we performed these analyses using both flipped and unflipped data. This approach resulted in the identification of abnormal parietal activation which was specific for conversion paresis patients. Patients also showed reduced activity in the prefrontal cortex, supramarginal gyrus and precuneus, including hemisphere-specific activation that is lateralized in the same hemisphere, regardless of right- or left-sided paresis. We propose that these regions are candidates for an interface between psychological mechanisms and disturbed higher-order motor control. Our study presents an integrative neurophysiological view of the mechanisms that contribute to the etiology of this puzzling psychological disorder, which can be further investigated with other types of conversion symptoms. PMID:22039428

  14. Abnormal high density lipoproteins in cerebrotendinous xanthomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Shore, V. (Lawrence Livermore Lab., CA); Salen, G.; Cheng, F.W.; Forte, T.; Shefer, S.; Tint, G.S.

    1981-11-01

    The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis (CTX). The mean HDL-cholesterol concentration in the CTX plasmas was 14.5 +/- 3.2 mg/dl, about one-third the normal value. The low HDL-cholesterol reflects a low concentration and an abnormal lipid composition of the plasma HDL. Relative to normal HDL, the cholesteryl esters are low, free cholesterol and phospholipids essentially normal, and triglycerides increased. The ratio of apoprotein (apo) to total cholesterol in the HDL of CTX was two to three times greater than normal. In the CTX HDL, the ratio of apoAI to apoAII was high, the proportion of apoC low, and a normally minor form of apoAI increased relative to other forms. The HDL in electron micrographs appeared normal morphologically and in particle size. The adnormalities in lipoprotein distribution profiles and composition of the plasma HDL result from metabolic defects that are not understood but may be linked to the genetic defect in bile acid synthesis in CTX. As a consequence, it is probable that the normal functions of the HDL, possibly including modulation of LDL-cholesterol uptake and the removal of excess cholesterol from peripheral tissues, are perturbed significantly in this disease.

  15. Update: Consequences of Abnormal Fetal Growth

    OpenAIRE

    Chernausek, Steven D.

    2012-01-01

    Intrauterine growth restriction (IUGR) is prevalent worldwide and affects children and adults in multiple ways. These include predisposition to type 2 diabetes mellitus, the metabolic syndrome, cardiovascular disease, persistent reduction in stature, and possibly changes in the pattern of puberty. A review of recent literature confirms that the metabolic effects of being born small for gestational age are evident in the very young, persist with age, and are amplified by adiposity. Furthermore...

  16. Chromosomal abnormalities associated with mental retardation in female subjects

    Directory of Open Access Journals (Sweden)

    Dutta Samikshan

    2009-01-01

    Full Text Available Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR. However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150 by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120, chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025.

  17. Abnormal traffic flow data detection based on wavelet analysis

    Directory of Open Access Journals (Sweden)

    Xiao Qian

    2016-01-01

    Full Text Available In view of the traffic flow data of non-stationary, the abnormal data detection is difficult.proposed basing on the wavelet analysis and least squares method of abnormal traffic flow data detection in this paper.First using wavelet analysis to make the traffic flow data of high frequency and low frequency component and separation, and then, combined with least square method to find abnormal points in the reconstructed signal data.Wavelet analysis and least square method, the simulation results show that using wavelet analysis of abnormal traffic flow data detection, effectively reduce the detection results of misjudgment rate and false negative rate.

  18. Abnormal behavior in caged birds kept as pets.

    Science.gov (United States)

    van Hoek, C S; ten Cate, C

    1998-01-01

    There are a limited number of studies dealing with abnormal behavior in caged birds kept as pets. However, these studies demonstrate the presence of abnormal behavior in both songbirds and parrots. Ethological studies on these birds, as well as studies on domestic and zoo birds, indicate that inappropriate rearing and housing conditions may lead to behavioral abnormalities. Together these data indicate that behavioral abnormalities occur among both wild-caught and domesticated pet birds. The severity and magnitude of these abnormalities is probably underestimated, and there is a need for systematic studies on the nature, origin, variability, species-specificity, and reversibility of behavioral problems in pet birds. Abnormal behavior in caged birds may to some extent be prevented and reduced by environmental enrichment. However, most enrichment studies are anecdotal and not based on a thorough analysis of the behavioral abnormalities, which may lead to measures resulting in a reduction of symptoms rather than the underlying causes. Although it is likely that several of these problems could be reduced by modifying rearing and housing conditions, the current insights into the causal mechanisms underlying abnormal behavior of domesticated and wild-caught pet birds are limited, as are the insights into the possibilities of preventing or curing abnormal behavior.

  19. Chromosomal abnormalities associated with mental retardation in female subjects.

    Science.gov (United States)

    Dutta, Samikshan; Shaw, Jyothi; Sinha, Swagata; Mukhopadhyay, Kanchan

    2009-01-01

    Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR). However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150) by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120), chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025).

  20. Maternal attitude towards first trimester screening for fetal abnormalities.

    Science.gov (United States)

    Maiz, Nerea; Burgos, Jorge; Barbazán, Maria José; Recio, Virginia; Martínez-Astorquiza, Txanton

    2016-05-01

    To explore the maternal attitude towards the screening for structural abnormalities at the 11-13-week scan, according to the severity of the abnormality. A secondary aim was to analyse which maternal characteristics influence in the maternal response. This is a descriptive study based on the responses to 300 self-administrated questionnaires completed immediately before routine ultrasounds scan. A totally of 296 (98.7%) women participated in the study. If the baby had any abnormality 93.9% would prefer to know at 12 weeks, 96.6% if the abnormality was lethal, 95.3% if the abnormality involves severe handicap, 91.2% if the abnormality can only be suspected, but not confirmed until the pregnancy is more advanced (16 or 20 weeks), 77.0% if the abnormality was minor and 79.4% women would like to know at 12 weeks if the baby appeared normal. Maternal age, gestational age at the time of the questionnaire and maternal attitude towards termination of pregnancy were the only factors affecting maternal responses. Pregnant women prefer to be informed in the first trimester about any abnormality in their fetuses, even in cases of minor or only suspected abnormalities. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  1. Abnormalities of fixation, saccade and pursuit in posterior cortical atrophy.

    Science.gov (United States)

    Shakespeare, Timothy J; Kaski, Diego; Yong, Keir X X; Paterson, Ross W; Slattery, Catherine F; Ryan, Natalie S; Schott, Jonathan M; Crutch, Sebastian J

    2015-07-01

    whose frequency correlated significantly with generalized reductions in cortical thickness. Patients with both posterior cortical atrophy and typical Alzheimer's disease showed lower gain in smooth pursuit compared to controls. The current study establishes that eye movement abnormalities are near-ubiquitous in posterior cortical atrophy, and highlights multiple aspects of saccadic performance which distinguish posterior cortical atrophy from typical Alzheimer's disease. We suggest the posterior cortical atrophy oculomotor profile (e.g. exacerbation of the saccadic gap/overlap effect, preserved saccadic velocity) reflects weak input from degraded occipito-parietal spatial representations of stimulus location into a superior collicular spatial map for eye movement regulation. This may indicate greater impairment of identification of oculomotor targets rather than generation of oculomotor movements. The results highlight the critical role of spatial attention and object identification but also precise stimulus localization in explaining the complex real world perception deficits observed in posterior cortical atrophy and many other patients with dementia-related visual impairment.

  2. Abnormal IGF-Binding Protein Profile in the Bone Marrow of Multiple Myeloma Patients

    DEFF Research Database (Denmark)

    Bieghs, Liesbeth; Brohus, Malene; Kristensen, Ida B

    2016-01-01

    ), monoclonal gammopathy of undetermined significance (MGUS) (n = 37), and control individuals (n = 15), using ELISA (IGFs) and 125I-IGF1 Western Ligand Blotting (IGFBPs). MGUS and MM patients displayed a significant increase in intact IGFBP-2 (2.5-3.8 fold) and decrease in intact IGFBP-3 (0.6-0.5 fold......) in the circulation compared to control individuals. Further, IGFBP-2 as well as total IGFBP levels were significantly lower in bone marrow compared to circulation in MM and MGUS only, whereas IGF1, IGF2, and IGFBP-3 were equally distributed between the two compartments. In conclusion, the profound change in IGFBP...

  3. Abnormal IGF-Binding Protein Profile in the Bone Marrow of Multiple Myeloma Patients

    DEFF Research Database (Denmark)

    Bieghs, Liesbeth; Brohus, Malene; Kristensen, Ida B;

    2016-01-01

    ), monoclonal gammopathy of undetermined significance (MGUS) (n = 37), and control individuals (n = 15), using ELISA (IGFs) and 125I-IGF1 Western Ligand Blotting (IGFBPs). MGUS and MM patients displayed a significant increase in intact IGFBP-2 (2.5-3.8 fold) and decrease in intact IGFBP-3 (0.6-0.5 fold...

  4. Abnormal systemic venous connection possibly associated with a persistent right umbilical vein; a case report

    Directory of Open Access Journals (Sweden)

    Smevik Bjarne

    2004-04-01

    Full Text Available Abstract Background Abnormal venous connections involving a persistent right umbilical vein are rare. In a minority of cases the liver is entirely bypassed and the condition is associated with multiple congenital malformations. Case presentation The described case illustrates a systemic venous drainage that was severely abnormal in a newborn girl with a truncus arteriosus type II congenital heart defect. Injection of contrast medium through the umbilical vein catheter revealed a very peculiar venous connection that passed anterio-laterally through the right hemithorax before crossing in an oblique fashion towards the superior vena cava. Conclusions This venous drainage may be the result of a persistent right umbilical vein connecting with the superior vena cava.

  5. Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Tilea, Bogdana; Garel, Catherine; Elmaleh-Berges, Monique; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Menez, Francoise; Delezoide, Anne-Lise [Hopital Robert Debre, Department of Developmental Biology, Paris (France); Vuillard, Edith [Hopital Robert Debre, Department of Obstetrics and Gynaecology, Paris (France)

    2006-02-01

    We report two cases of fetal inner ear abnormalities diagnosed by MRI. Cerebral MRI was performed on two fetuses, at 32 and 30 weeks gestation, following US that demonstrated multiple malformations suggestive of CHARGE syndrome in one fetus and ventriculomegaly and poor visibility of the posterior fossa in the other. MRI revealed vestibular hypoplasia and agenesis of the semicircular canals in one fetus and cystic cochleas, partial vermian agenesis and an occipital meningocele in the second fetus. Both pregnancies were terminated and there was good correlation between fetal MRI, ex utero CT and fetopathological findings. The inner ears should be carefully examined when performing fetal cerebral MRI because abnormalities of the inner ear may be associated with cerebral anomalies. (orig.)

  6. Multiple myeloma associated with acquired cutis laxa.

    Science.gov (United States)

    Cho, S Y; Maguire, R F

    1980-08-01

    Acquired cutis laxa is a rare disorder characterized by diffuse laxity of the skin and loss of connective tissue support with involvement of the lungs, gastrointestinal tract, pelvic organs, and aorta. The case report presented herein describes a forty-six year old woman with multiple myeloma and cutis laxa. Her history included several severe allergic reactions and the gradual development of lax skin, loss of connective tissue support throughout the body, and emphysema. At autopsy, multiple myeloma, diffuse laxity of the skin, and panacinar emphysema were found. The amount of elastic fiber in the skin, lungs, and aorta was decreased and showed abnormal fragmentation. Results of direct immunofluorescence study demonstrated IgG bound to dermal elastic fibers. Speculation regarding an immunologic etiology of the elastic tissue abnormality is presented herein.

  7. [Mandibular lesions in multiple myeloma].

    Science.gov (United States)

    Scutellari, P N; Orzincolo, C

    1992-03-01

    A review was made of 237 cases of multiple myeloma seen at the Institute of Radiology and Hematology of the Ferrara University from 1984 through 1990. The results showed skeletal involvement of the mandible to be present in 25 patients (10.54%). The diagnosis of multiple myeloma was based on the following criteria: 1) increased number of abnormal, atypical or immature plasma cells in the bone marrow; 2) the presence of a monoclonal protein in the serum or urine; 3) bone lesions consistent with those of myeloma. Symptoms include pain and swelling of the oral cavity, tooth mobility and loss, numbness along the inferior dental nerve, and paresthesia of the lower lip. The typical radiographic appearance is a well-defined "punched-out" lytic defect, solitary or multiple; sometimes, the defect enlarges and appears "bubbly" or septated. Permeative lytic areas, with blurred outlines, are a rare pattern, which is radiologically indistinguishable from skeletal metastases. The involvement of the oral cavity and jaw in multiple myeloma has been often reported in literature: nevertheless, if radiographs of the jaws had been systematically taken in all the cases, its incidence would probably have been much higher than previously suspected.

  8. Capital structure and value firm: an empirical analysis of abnormal returns

    Directory of Open Access Journals (Sweden)

    Faris Nasif AL-SHUBIRI

    2010-12-01

    Full Text Available This study investigates whether capital structure is value relevant for the equity investor. In this sense, the paper links empirical corporate finance issues with investment analysis. This study also integrates the Miller-Modigliani (MM framework (1958 into an investment approach by estimating abnormal returns on leverage portfolios in the time-series for different risk classes. For most risk classes, abnormal returns decline in firm leverage. Descriptive statistics, simple and multiple regressions are used to test the hold indicator significance. The results reflect that the designed measures are the negative relationship between returns and leverage could also be due to the market’s pricing of the firm’s ability to raise funds if need be. Further avenues for research in this area include examining the stock return performance of companies based on the changes in leverage of the firms relative to their risk classes. It would be particularly noteworthy to examine the rate at which the information content of said changes is incorporated in the share prices of companies as well as in their long run returns This study encompasses all non-financial firms across the five sectors that cover all the various classes of risk. This study investigates neither the determinants of multiple capital structure choices nor changes in capital structures over time. Our main goal is to explore the effect of capital structure on cumulative abnormal returns. This study also examine a firm’s cumulative average abnormal returns by measuring leverage at the firm level and at the average level for the firm’s industry. And also examine other factors, such as size, price earnings, market-to-book and betas.

  9. Deficits in Neurite Density Underlie White Matter Structure Abnormalities in First-Episode Psychosis.

    Science.gov (United States)

    Rae, Charlotte L; Davies, Geoff; Garfinkel, Sarah N; Gabel, Matt C; Dowell, Nicholas G; Cercignani, Mara; Seth, Anil K; Greenwood, Kathryn E; Medford, Nick; Critchley, Hugo D

    2017-02-17

    Structural abnormalities across multiple white matter tracts are recognized in people with early psychosis, consistent with dysconnectivity as a neuropathological account of symptom expression. We applied advanced neuroimaging techniques to characterize microstructural white matter abnormalities for a deeper understanding of the developmental etiology of psychosis. Thirty-five first-episode psychosis patients, and 19 healthy controls, participated in a quantitative neuroimaging study using neurite orientation dispersion and density imaging, a multishell diffusion-weighted magnetic resonance imaging technique that distinguishes white matter fiber arrangement and geometry from changes in neurite density. Fractional anisotropy (FA) and mean diffusivity images were also derived. Tract-based spatial statistics compared white matter structure between patients and control subjects and tested associations with age, symptom severity, and medication. Patients with first-episode psychosis had lower regional FA in multiple commissural, corticospinal, and association tracts. These abnormalities predominantly colocalized with regions of reduced neurite density, rather than aberrant fiber bundle arrangement (orientation dispersion index). There was no direct relationship with active symptoms. FA decreased and orientation dispersion index increased with age in patients, but not control subjects, suggesting accelerated effects of white matter geometry change. Deficits in neurite density appear fundamental to abnormalities in white matter integrity in early psychosis. In the first application of neurite orientation dispersion and density imaging in psychosis, we found that processes compromising axonal fiber number, density, and myelination, rather than processes leading to spatial disruption of fiber organization, are implicated in the etiology of psychosis. This accords with a neurodevelopmental origin of aberrant brain-wide structural connectivity predisposing individuals to

  10. ADEPT - Abnormal Doppler Enteral Prescription Trial

    Directory of Open Access Journals (Sweden)

    McCormick Kenny

    2009-10-01

    Full Text Available Abstract Background Pregnancies complicated by abnormal umbilical artery Doppler blood flow patterns often result in the baby being born both preterm and growth-restricted. These babies are at high risk of milk intolerance and necrotising enterocolitis, as well as post-natal growth failure, and there is no clinical consensus about how best to feed them. Policies of both early milk feeding and late milk feeding are widely used. This randomised controlled trial aims to determine whether a policy of early initiation of milk feeds is beneficial compared with late initiation. Optimising neonatal feeding for this group of babies may have long-term health implications and if either of these policies is shown to be beneficial it can be immediately adopted into clinical practice. Methods and Design Babies with gestational age below 35 weeks, and with birth weight below 10th centile for gestational age, will be randomly allocated to an "early" or "late" enteral feeding regimen, commencing milk feeds on day 2 and day 6 after birth, respectively. Feeds will be gradually increased over 9-13 days (depending on gestational age using a schedule derived from those used in hospitals in the Eastern and South Western Regions of England, based on surveys of feeding practice. Primary outcome measures are time to establish full enteral feeding and necrotising enterocolitis; secondary outcomes include sepsis and growth. The target sample size is 400 babies. This sample size is large enough to detect a clinically meaningful difference of 3 days in time to establish full enteral feeds between the two feeding policies, with 90% power and a 5% 2-sided significance level. Initial recruitment period was 24 months, subsequently extended to 38 months. Discussion There is limited evidence from randomised controlled trials on which to base decisions regarding feeding policy in high risk preterm infants. This multicentre trial will help to guide clinical practice and may also

  11. Executive function abnormalities in pathological gamblers

    Directory of Open Access Journals (Sweden)

    Mungai Francesco

    2008-03-01

    Full Text Available Abstract Background Pathological gambling (PG is an impulse control disorder characterized by persistent and maladaptive gambling behaviors with disruptive consequences for familial, occupational and social functions. The pathophysiology of PG is still unclear, but it is hypothesized that it might include environmental factors coupled with a genetic vulnerability and dysfunctions of different neurotransmitters and selected brain areas. Our study aimed to evaluate a group of patients suffering from PG by means of some neuropsychological tests in order to explore the brain areas related to the disorder. Methods Twenty outpatients (15 men, 5 women, with a diagnosis of PG according to DSM-IV criteria, were included in the study and evaluated with a battery of neuropsychological tests: the Wisconsin Card Sorting Test (WCST, the Wechsler Memory Scale revised (WMS-R and the Verbal Associative Fluency Test (FAS. The results obtained in the patients were compared with normative values of matched healthy control subjects. Results The PG patients showed alterations at the WCST only, in particular they had a great difficulty in finding alternative methods of problem-solving and showed a decrease, rather than an increase, in efficiency, as they progressed through the consecutive phases of the test. The mean scores of the other tests were within the normal range. Conclusion Our findings showed that patients affected by PG, in spite of normal intellectual, linguistic and visual-spatial abilities, had abnormalities emerging from the WCST, in particular they could not learn from their mistakes and look for alternative solutions. Our results would seem to confirm an altered functioning of the prefrontal areas which might provoke a sort of cognitive "rigidity" that might predispose to the development of impulsive and/or compulsive behaviors, such as those typical of PG.

  12. Obstructive Sleep Apnea and Lipid Abnormalities

    Science.gov (United States)

    Karkinski, Dimitar; Georgievski, Oliver; Dzekova-Vidimliski, Pavlina; Milenkovic, Tatjana; Dokic, Dejan

    2017-01-01

    BACKGROUND: There has been a great interest in the interaction between obstructive sleep apnea (OSA) and metabolic dysfunction, but there is no consistent data suggesting that OSA is a risk factor for dyslipidemia. AIM: The aim of this cross-sectional study was to evaluate the prevalence of lipid abnormalities in patients suspected of OSA, referred to our sleep laboratory for polysomnography. MATERIAL AND METHODS: Two hundred patients referred to our hospital with suspected OSA, and all of them underwent for standard polysomnography. All patients with respiratory disturbance index (RDI) above 15 were diagnosed with OSA. In the morning after 12 hours fasting, the blood sample was collected from all patients. Blood levels of triglycerides, total cholesterol, high-density lipoprotein cholesterol (HDL) and low-density lipoprotein cholesterol (LDL), were determined in all study patients. In the study, both OSA positive and OSA negative patients were divided according to the body mass index (BMI) in two groups. The first group with BMI ≤ 30 kg/m^2 and the second group with BMI > 30 kg/m^2. RESULTS: OSA positive patients with BMI ≤ 30 kg/m^2 had statistically significant higher levels of triglycerides and total cholesterol, and statistically significant lower level of HDL compared to OSA negative patients with BMI ≤ 30. There were no statistically significant differences in age and LDL levels between these groups. OSA positive patients with BMI > 30 kg/m^2 had higher levels of triglycerides, total cholesterol and LDL and lower levels of HDL versus OSA negative patients with BMI > 30 kg/m^2, but without statistically significant differences. CONCLUSION: OSA and obesity are potent risk factors for dyslipidemias. OSA could play a significant role in worsening of lipid metabolism in non-obese patients. But in obese patients, the extra weight makes the metabolic changes of lipid metabolism, and the role of OSA is not that very important like in non-obese patients. PMID

  13. Insulin Pump Therapy Is Associated with Lower Rates of Retinopathy and Peripheral Nerve Abnormality

    Science.gov (United States)

    Zabeen, Bedowra; Craig, Maria E.; Virk, Sohaib A.; Pryke, Alison; Chan, Albert K. F.; Cho, Yoon Hi; Benitez-Aguirre, Paul Z.; Hing, Stephen; Donaghue, Kim C.

    2016-01-01

    Objective To compare rates of microvascular complications in adolescents with type 1 diabetes treated with continuous subcutaneous insulin infusion (CSII) versus multiple daily injections (MDI). Research Design and Methods Prospective cohort of 989 patients (aged 12–20 years; diabetes duration >5 years) treated with CSII or MDI for >12 months. Microvascular complications were assessed from 2000–14: early retinopathy (seven-field fundal photography), peripheral nerve function (thermal and vibration threshold testing), autonomic nerve abnormality (heart rate variability analysis of electrocardiogram recordings) and albuminuria (albumin creatinine ratio/timed overnight albumin excretion). Generalized estimating equations (GEE) were used to examine the relationship between treatment and complications rates, adjusting for socio-economic status (SES) and known risk factors including HbA1c and diabetes duration. Results Comparing CSII with MDI: HbA1C was 8.6% [70mmol/mol] vs. 8.7% [72 mmol/mol]) (p = 0.7), retinopathy 17% vs. 22% (p = 0.06); microalbuminuria 1% vs. 4% (p = 0.07), peripheral nerve abnormality 27% vs. 33% (p = 0.108) and autonomic nerve abnormality 24% vs. 28% (p = 0.401). In multivariable GEE, CSII use was associated with lower rates of retinopathy (OR 0.66, 95% CI 0.45–0.95, p = 0.029) and peripheral nerve abnormality (OR 0.63, 95% CI 0.42–0.95, p = 0.026), but not albuminuria (OR 0.46, 95% CI 0.10–2.17, p = 0.33). SES was not associated with any of the complication outcomes. Conclusions In adolescents, CSII use is associated with lower rates of retinopathy and peripheral nerve abnormality, suggesting an apparent benefit of CSII over MDI independent of glycemic control or SES. PMID:27050468

  14. Abnormalities of white matter microstructure in unmedicated obsessive-compulsive disorder and changes after medication.

    Directory of Open Access Journals (Sweden)

    Qing Fan

    Full Text Available BACKGROUND: Abnormalities of myelin integrity have been reported in obsessive-compulsive disorder (OCD using multi-parameter maps of diffusion tensor imaging (DTI. However, it was still unknown to what degree these abnormalities might be affected by pharmacological treatment. OBJECTIVE: To investigate whether the abnormalities of white matter microstructure including myelin integrity exist in OCD and whether they are affected by medication. METHODOLOGY AND PRINCIPAL FINDINGS: Parameter maps of DTI, including fractional anisotropy (FA, axial diffusivity (AD, radial diffusivity (RD and mean diffusivity (MD, were acquired from 27 unmedicated OCD patients (including 13 drug-naïve individuals and 23 healthy controls. Voxel-based analysis was then performed to detect regions with significant group difference. We compared the DTI-derived parameters of 15 patients before and after 12-week Selective Serotonin Reuptake Inhibitor (SSRI therapies. Significant differences of DTI-derived parameters were observed between OCD and healthy groups in multiple structures, mainly within the fronto-striato-thalamo-cortical loop. An increased RD in combination with no change in AD among OCD patients was found in the left medial superior frontal gyrus, temporo-parietal lobe, occipital lobe, striatum, insula and right midbrain. There was no statistical difference in DTI-derived parameters between drug-naive and previously medicated OCD patients. After being medicated, OCD patients showed a reduction in RD of the left striatum and right midbrain, and in MD of the right midbrain. CONCLUSION: Our preliminary findings suggest that abnormalities of white matter microstructure, particularly in terms of myelin integrity, are primarily located within the fronto-striato-thalamo-cortical circuit of individuals with OCD. Some abnormalities may be partly reversed by SSRI treatment.

  15. Insulin Pump Therapy Is Associated with Lower Rates of Retinopathy and Peripheral Nerve Abnormality.

    Directory of Open Access Journals (Sweden)

    Bedowra Zabeen

    Full Text Available To compare rates of microvascular complications in adolescents with type 1 diabetes treated with continuous subcutaneous insulin infusion (CSII versus multiple daily injections (MDI.Prospective cohort of 989 patients (aged 12-20 years; diabetes duration >5 years treated with CSII or MDI for >12 months. Microvascular complications were assessed from 2000-14: early retinopathy (seven-field fundal photography, peripheral nerve function (thermal and vibration threshold testing, autonomic nerve abnormality (heart rate variability analysis of electrocardiogram recordings and albuminuria (albumin creatinine ratio/timed overnight albumin excretion. Generalized estimating equations (GEE were used to examine the relationship between treatment and complications rates, adjusting for socio-economic status (SES and known risk factors including HbA1c and diabetes duration.Comparing CSII with MDI: HbA1C was 8.6% [70mmol/mol] vs. 8.7% [72 mmol/mol] (p = 0.7, retinopathy 17% vs. 22% (p = 0.06; microalbuminuria 1% vs. 4% (p = 0.07, peripheral nerve abnormality 27% vs. 33% (p = 0.108 and autonomic nerve abnormality 24% vs. 28% (p = 0.401. In multivariable GEE, CSII use was associated with lower rates of retinopathy (OR 0.66, 95% CI 0.45-0.95, p = 0.029 and peripheral nerve abnormality (OR 0.63, 95% CI 0.42-0.95, p = 0.026, but not albuminuria (OR 0.46, 95% CI 0.10-2.17, p = 0.33. SES was not associated with any of the complication outcomes.In adolescents, CSII use is associated with lower rates of retinopathy and peripheral nerve abnormality, suggesting an apparent benefit of CSII over MDI independent of glycemic control or SES.

  16. Multiple myeloma.

    Science.gov (United States)

    Anderson, Kenneth C; Shaughnessy, John D; Barlogie, Bart; Harousseau, Jean-Luc; Roodman, G David

    2002-01-01

    This update provides new insights into the biology, diagnosis, prognosis, and treatment of multiple myeloma (MM) and its complications. In Section I, Drs. John Shaughnessy, Jr., and Bart Barlogie first correlate global gene microarray expression profiling of patient MM samples with normal plasma cells to provide the basis for a developmental stage-based classification of MM. The powerful clinical utility of these analyses is illustrated in delineating mechanism of drug action, identifying novel therapeutic targets, and providing a molecular analysis not only of the tumor cell, but also of the tumor microenvironment, in MM. In Section II, Dr. Jean-Luc Harousseau reviews the rationale and current results of high dose therapy and autologous stem cell transplantation in MM, including optimal patient selection, prognostic factors, conditioning regimens, sources of stem cells, use of tandem transplantation, and maintenance therapy. He then provides an update on the results of allotransplantation approaches in MM, focusing on proposed methods to reduce toxicity and exploit the graft-versus-MM alloimmune effect by transplantation earlier in the disease course, T cell depletion, and nonmyeloablative transplantation. In Section III, Dr. G. David Roodman provides recent insights into the mechanisms of osteoclast activation, interactions between bone and MM cells, adhesive interactions in MM bone disease, and osteoblast suppression. These recent advances not only provide insights into pathogenesis of MM bone disease, but also form the framework for novel therapeutics. In Section IV, Dr. Kenneth Anderson provides an up-to-date discussion of the role of the bone marrow microenvironment in promoting growth, survival, drug resistance, and migration of MM cells and the signaling cascades mediating these sequelae. These studies provide the framework for evaluation of novel therapeutics targeting the MM cell-host interaction in vivo in animal models and in derived clinical trials.

  17. Multiple osteochondromas

    Directory of Open Access Journals (Sweden)

    Bovée Judith VMG

    2008-02-01

    Full Text Available Abstract Multiple osteochondromas (MO is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1. Osteochondromas develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. They are pedunculated or sessile (broad base and can vary widely in size. The number of osteochondromas may vary significantly within and between families, the mean number of locations is 15–18. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The facial bones are not affected. Osteochondromas may cause pain, functional problems and deformities, especially of the forearm, that may be reason for surgical removal. The most important complication is malignant transformation of osteochondroma towards secondary peripheral chondrosarcoma, which is estimated to occur in 0.5–5%. MO is an autosomal dominant disorder and is genetically heterogeneous. In almost 90% of MO patients germline mutations in the tumour suppressor genes EXT1 or EXT2 are found. The EXT genes encode glycosyltransferases, catalyzing heparan sulphate polymerization. The diagnosis is based on radiological and clinical documentation, supplemented with, if available, histological evaluation of osteochondromas. If the exact mutation is known antenatal diagnosis is technically possible. MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease. Osteochondromas are benign lesions and do not affect life expectancy. Management includes removal of osteochondromas when they give complaints. Removed osteochondromas should be examined for malignant transformation towards secondary peripheral chondrosarcoma. Patients should be well instructed and regular

  18. Congenital nasal piriform aperture stenosis with vestibular abnormality

    Energy Technology Data Exchange (ETDEWEB)

    Rajaram, Smitha; Raghavan, Ashok [Sheffield Children' s Hospital, Department of Paediatric Radiology, Sheffield (United Kingdom); Bateman, Neil [Sheffield Children' s Hospital, ENT Department, Sheffield (United Kingdom)

    2008-10-15

    We present a neonate with congenital nasal piriform aperture stenosis associated with an abnormal vestibular aperture. Radiological evaluation with CT is essential to confirm the diagnosis and delineate the anatomy for surgical planning. Extension of the scan field of view to include the petrous temporal bone is essential to identify associated abnormalities of the vestibule. (orig.)

  19. Abnormal glomerular basement membrane in idiopathic multicentric osteolysis

    NARCIS (Netherlands)

    Bakker, SJL; Vos, GD; Verschure, PDMM; Mulder, AH; Tiebosch, TMG

    1996-01-01

    The primary cause of nephropathy in idiopathic multicentric osteolysis is as yet unknown. We report a young girl with idiopathic multicentric osteolysis and nephropathy. An abnormal glomerular basement membrane was the only abnormality found in a renal biopsy taken 2 years before the development of

  20. Phenotype abnormality: 71 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 71 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u577i abnormal for trait of morph...ology in organ named trichome during process named growth ... trichome ... abnormal ... growth ... morphology

  1. 21 CFR 864.7415 - Abnormal hemoglobin assay.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Abnormal hemoglobin assay. 864.7415 Section 864... hemoglobin assay. (a) Identification. An abnormal hemoglobin assay is a device consisting of the reagents... hemoglobin types. (b) Classification. Class II (performance standards)....

  2. Phenotype abnormality: 45 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 45 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u551i abnormal for trait of behavioral quality... in organ named stamen during process named organ development ... stamen ... abnormal ... organ development ... behavioral quality

  3. Phenotype abnormality: 33 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 33 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u539i abnormal for trait of behavioral quality... during process named response to auxin stimulus ... abnormal ... behavioral quality

  4. Phenotype abnormality: 31 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 31 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u537i abnormal for trait of behavioral quality... during process named localization of cell ... abnormal ... behavioral quality

  5. Phenotype abnormality: 35 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 35 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u541i abnormal for trait of behavioral quality... during process named response to gravity ... abnormal ... behavioral quality

  6. Phenotype abnormality: 34 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 34 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u540i abnormal for trait of behavioral quality... during process named response to cytokinin stimulus ... abnormal ... behavioral quality

  7. Phenotype abnormality: 37 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 37 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u543i abnormal for trait of behavioral quality... in organ named cotyledon during process named organ development ... cotyledon ... abnormal ... organ development ... behavioral quality

  8. Phenotype abnormality: 32 [Arabidopsis Phenome Database[Archive

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    Full Text Available 32 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u538i abnormal for trait of behavioral quality... during process named organ development ... abnormal ... organ development ... behavioral quality

  9. Phenotype abnormality: 49 [Arabidopsis Phenome Database[Archive

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    Full Text Available 49 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u555i abnormal for trait of behavioral quality... in organ named whole plant during process named cell growth ... whole plant ... abnormal ... cell growth ... behavioral quality

  10. Phenotype abnormality: 42 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 42 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u548i abnormal for trait of behavioral quality... in organ named root during process named gravitropism ... root ... abnormal ... behavioral quality

  11. Phenotype abnormality: 39 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 39 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u545i abnormal for trait of behavioral quality... in organ named flower during process named organ development ... flower ... abnormal ... organ development ... behavioral quality

  12. Phenotype abnormality: 43 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 43 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u549i abnormal for trait of behavioral quality... in organ named root during process named growth ... root ... abnormal ... growth ... behavioral quality

  13. Phenotype abnormality: 47 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 47 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u553i abnormal for trait of behavioral quality... in organ named thylakoid membrane during process named thylakoid membrane organization ... abnormal ... behavioral quality

  14. Phenotype abnormality: 44 [Arabidopsis Phenome Database[Archive

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    Full Text Available 44 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u550i abnormal for trait of behavioral quality... in organ named root during process named organ development ... root ... abnormal ... organ development ... behavioral quality

  15. Phenotype abnormality: 50 [Arabidopsis Phenome Database[Archive

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    Full Text Available 50 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u556i abnormal for trait of behavioral quality... in organ named whole plant during process named photomorphogenesis ... whole plant ... abnormal ... behavioral quality

  16. Phenotype abnormality: 48 [Arabidopsis Phenome Database[Archive

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    Full Text Available 48 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u554i abnormal for trait of behavioral quality... in organ named vascular leaf during process named organ development ... vascular leaf ... abnormal ... organ development ... behavioral quality

  17. Phenotype abnormality: 53 [Arabidopsis Phenome Database[Archive

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    Full Text Available 53 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u559i abnormal for trait of duration quality... of a process in organ named whole plant in period of organ development ... whole plant organ development ... abnormal ... duration quality of a process

  18. Phenotype abnormality: 40 [Arabidopsis Phenome Database[Archive

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    Full Text Available 40 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u546i abnormal for trait of behavioral quality... in organ named hypocotyl during process named gravitropism ... hypocotyl ... abnormal ... behavioral quality

  19. Phenotype abnormality: 61 [Arabidopsis Phenome Database[Archive

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    Full Text Available 61 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u567i abnormal for tra...it of morphology in organ named obsolete microgametophyte ... obsolete microgametophyte ... abnormal ... morphology

  20. Prevalence of Low Sperm Count and Abnormal Semen Parameters ...

    African Journals Online (AJOL)

    elearning

    fertile/infertile men in our environment, semen samples collected from one hundred ... KEY WORDS: Abnormal semen parameters, male partners, genital infection, infertility. ..... have adverse effects on sperm parameters5,12. Other causes of semen abnormalities are stress ... semen quality and quantity, the high prevalence.

  1. Fetal akinesia and associated abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Höftberger, Romana; Nemec, Ursula; Bettelheim, Dieter; Brugger, Peter C; Kasprian, Gregor; Amann, Gabriele; Rotmensch, Siegfried; Graham, John M; Rimoin, David L; Prayer, Daniela

    2011-05-01

    In view of the increasing role of magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), this study sought to demonstrate the visualization of fetal akinesia and associated abnormalities on MRI. This retrospective study included six fetuses with akinesia and associated abnormalities, depicted on fetal MRI after suspicious prenatal US. The whole fetus was assessed for musculoskeletal abnormalities and associated pathological conditions elsewhere. Fetal outcome data were compared with prenatal imaging. US and MRI findings were also compared. Akinesia resulting in arthrogryposis was seen in 6/6 fetuses, with abnormal musculature in 5/6 fetuses. Associated brain abnormalities were found in 2/6 fetuses; facial abnormalities in 3/6; lung hypoplasia in 3/6; and polyhydramnios in 2/6. There were 5/6 pregnancies that were terminated and one individual died neonatally. MRI and brain autopsy were concordant in 4/6 cases. MRI and body autopsy were concordant in 1/6 cases and in 5/6 cases, autopsy revealed additional abnormalities. In addition to US, MRI correctly identified central nervous system findings in four cases and lung hypoplasia in three cases. Our MRI results demonstrate fetal akinesia and associated abnormalities, which may have an impact on perinatal management, as an adjunct to prenatal US. Copyright © 2011 John Wiley & Sons, Ltd.

  2. Freud Was Right. . . about the Origins of Abnormal Behavior

    Science.gov (United States)

    Muris, Peter

    2006-01-01

    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  3. Phenotype abnormality: 46 [Arabidopsis Phenome Database[Archive

    Lifescience Database Archive (English)

    Full Text Available 46 http://metadb.riken.jp/db/SciNetS_ria224i/cria224u1ria224u552i abnormal for trait of behavior.../cria224u2ria224u38i stomatal complex ... abnormal ... response to light stimulus ... behavioral quality

  4. Visualizing how cancer chromosome abnormalities form in living cells

    Science.gov (United States)

    For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells. The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attac

  5. A Case of ADHD and a Major Y Chromosome Abnormality

    Science.gov (United States)

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  6. Abnormal Spatial Asymmetry of Selective Attention in ADHD

    Science.gov (United States)

    Chan, Edgar; Mattingley, Jason B.; Huang-Pollock, Cynthia; English, Therese; Hester, Robert; Vance, Alasdair; Bellgrove, Mark A.

    2009-01-01

    Background: Evidence for a selective attention abnormality in children with attention deficit hyperactivity disorder (ADHD) has been hard to identify using conventional methods from cognitive science. This study tested whether the presence of selective attention abnormalities in ADHD may vary as a function of perceptual load and target…

  7. Freud Was Right. . . about the Origins of Abnormal Behavior

    Science.gov (United States)

    Muris, Peter

    2006-01-01

    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  8. Describing the Sensory Abnormalities of Children and Adults with Autism

    Science.gov (United States)

    Leekam, Susan R.; Nieto, Carmen; Libby, Sarah J.; Wing, Lorna; Gould, Judith

    2007-01-01

    Patterns of sensory abnormalities in children and adults with autism were examined using the Diagnostic Interview for Social and Communication Disorders (DISCO). This interview elicits detailed information about responsiveness to a wide range of sensory stimuli. Study 1 showed that over 90% of children with autism had sensory abnormalities and had…

  9. Abnormal Structure of Embryo Sac in Autotetraploid Rice

    Institute of Scientific and Technical Information of China (English)

    GUO Hai-bin; FENG Jiu-huan; LU Yong-gen; LIU Xiang-dong

    2006-01-01

    The structures of mature embryo sacs in 13 genetic stock lines of autotetraploid rice (Oryza sativa L.), including indica,japonica and javanica, were studied by using the whole-mount stain-clearing laser scanning confocal microscopy (WCLSM).Among the 13 autotetrapioid rice, the majority of ovaries possess normal polygonum-type embryo sacs, while a few ovaries were characterized by abnormal embryo sacs. The abnormalities of embryo sacs could be classified into six categories, i. e. no female The frequency of abnormal embryo sac in japonica (26.6%) was higher than that in indica (19.34%). In addition, the major abnormalities in each autotetraploid line varied, suggesting that the abnormalities may be related to the genotypes of the varieties.

  10. Chromosomal Abnormalities Associated with Neural Tube Defects (I: Full Aneuploidy

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-12-01

    Full Text Available Fetuses with neural tube defects (NTDs carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploidy, trisomy 9, trisomy 2, trisomy 21, trisomy 7, trisomy 8, trisomy 14, trisomy 15, trisomy 16, trisomy 5 mosaicism, trisomy 11 mosaicism, trisomy 20 mosaicism, monosomy X, and tetraploidy. NTDs may be associated with aneuploidy. Perinatal identification of NTDs should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

  11. Who should be screened for chromosomal abnormalities before ICSI treatment?

    Science.gov (United States)

    Dul, E C; van Ravenswaaij-Arts, C M A; Groen, H; van Echten-Arends, J; Land, J A

    2010-11-01

    Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe oligozoospermic men, because they are assumed to have the highest risk of abnormalities. We performed a retrospective cohort study in azoospermic men and men eligible for ICSI. We determined the prevalence of chromosomal abnormalities in relation to sperm concentration and compared our data to studies in the literature. A high prevalence of chromosomal abnormalities in azoospermic men was found, but no difference in the prevalence of abnormalities was seen between different sperm concentration categories in non-azoospermic men. This raises the question of who should be screened for chromosomal abnormalities before ICSI treatment. Considering the costs and benefits, we would propose limiting screening to infertile couples with non-obstructive azoospermia.

  12. Myocardial bioenergetic abnormalities in experimental uremia

    Directory of Open Access Journals (Sweden)

    Chesser AMS

    2016-05-01

    Full Text Available Alistair MS Chesser,1 Steven M Harwood,2 Martin J Raftery,1 Muhammad M Yaqoob1,2 1Department of Nephrology, Barts Health NHS Trust, Royal London Hospital, 2Translational Medicine and Therapeutics, William Harvey Research Institute, John Vane Science Centre, Queen Mary University of London, London, UK Purpose: Cardiac bioenergetics are known to be abnormal in experimental uremia as exemplified by a reduced phosphocreatine (PCr/adenosine triphosphate (ATP ratio. However, the progression of these bioenergetic changes during the development of uremia still requires further study and was therefore investigated at baseline, 4 weeks and 8 weeks after partial nephrectomy (PNx. Methods: A two-stage PNx uremia model in male Wistar rats was used to explore in vivo cardiac and skeletal muscles' bioenergetic changes over time. High-energy phosphate nucleotides were determined by phosphorus-31 nuclear magnetic resonance (31P-NMR and capillary zone electrophoresis. Results: 31P-NMR spectroscopy revealed lower PCr/ATP ratios in PNx hearts compared to sham (SH-operated animals 4 weeks after PNx (median values given ± SD, 0.64±0.16 PNx, 1.13±0.31 SH, P<0.02. However, 8 weeks after PNx, the same ratio was more comparable between the two groups (0.84±0.15 PNx, 1.04±0.44 SH, P= not significant, suggestive of an adaptive mechanism. When 8-week hearts were prestressed with dobutamine, the PCr/ATP ratio was again lower in the PNx group (1.08±0.36 PNx, 1.55±0.38 SH, P<0.02, indicating a reduced energy reserve during the progression of uremic heart disease. 31P-NMR data were confirmed by capillary zone electrophoresis, and the changes in myocardial bioenergetics were replicated in the skeletal muscle. Conclusion: This study provides evidence of the changes that occur in myocardial energetics in experimental uremia and highlights how skeletal muscle bioenergetics mirror those found in the cardiac tissue and so might potentially serve as a practical surrogate tissue

  13. Electrocardiogram Abnormalities and Coronary Calcification in Postmenopausal Women

    Directory of Open Access Journals (Sweden)

    Michiel Bots

    2010-02-01

    Full Text Available Background: An electrocardiogram (ECG can provide information on subclinical myocardial damage. The presence,and more importantly, the quantity of coronary artery calcification (CAC, relates well with the overall severity of the atherosclerotic process. A strong relation has been demonstrated between coronary calcium burden and the incidence of myocardial infarction, a relation independent of age. The aim of this study was to assess the relation of left ventricular hypertrophy (LVH and ECG abnormalities with CAC.Methods: The study population comprised 566 postmenopausal women selected from a population-based cohort study.Information on LVH and repolarization abnormalities (T-axis and QRS-T angle was obtained using electrocardiography.Modular ECG Analysis System (MEANS was used to assess ECG abnormalities. The women underwent a multi detectorrow computed tomography (MDCT scan (Philips Mx 8000 IDT 16 to assess CAC. The Agatston score was used to quantifyCAC; scores greater than zero were considered as the presence of coronary calcium. Logistic regression was used to assessthe relation of ECG abnormality with coronary calcification.Results: LVH was found in 2.7% (n = 15 of the women. The prevalence of T-axis abnormality was 6% (n = 34, whereas 8.5% (n = 48 had a QRS-T angle abnormality. CAC was found in 62% of the women. Compared to women with a normal T-axis, women with borderline or abnormal T-axes were 3.8 fold more likely to have CAC (95% CI: 1.4-10.2. Similarly,compared to women with a normal QRS-T angle, in women with borderline or abnormal QRS-T angle, CAC was 2.0 fold more likely to be present (95% CI: 1.0-4.1.Conclusion: Among women with ECG abnormalities reflecting subclinical ischemia, CAC is commonly found and may in part explain the increased coronary heart disease risk associated with these ECG abnormalities.

  14. Microstructure abnormalities in adolescents with internet addiction disorder.

    Directory of Open Access Journals (Sweden)

    Kai Yuan

    Full Text Available BACKGROUND: Recent studies suggest that internet addiction disorder (IAD is associated with structural abnormalities in brain gray matter. However, few studies have investigated the effects of internet addiction on the microstructural integrity of major neuronal fiber pathways, and almost no studies have assessed the microstructural changes with the duration of internet addiction. METHODOLOGY/PRINCIPAL FINDINGS: We investigated the morphology of the brain in adolescents with IAD (N = 18 using an optimized voxel-based morphometry (VBM technique, and studied the white matter fractional anisotropy (FA changes using the diffusion tensor imaging (DTI method, linking these brain structural measures to the duration of IAD. We provided evidences demonstrating the multiple structural changes of the brain in IAD subjects. VBM results indicated the decreased gray matter volume in the bilateral dorsolateral prefrontal cortex (DLPFC, the supplementary motor area (SMA, the orbitofrontal cortex (OFC, the cerebellum and the left rostral ACC (rACC. DTI analysis revealed the enhanced FA value of the left posterior limb of the internal capsule (PLIC and reduced FA value in the white matter within the right parahippocampal gyrus (PHG. Gray matter volumes of the DLPFC, rACC, SMA, and white matter FA changes of the PLIC were significantly correlated with the duration of internet addiction in the adolescents with IAD. CONCLUSIONS: Our results suggested that long-term internet addiction would result in brain structural alterations, which probably contributed to chronic dysfunction in subjects with IAD. The current study may shed further light on the potential brain effects of IAD.

  15. GPER and ERα expression in abnormal endometrial proliferations.

    Science.gov (United States)

    Tica, Andrei Adrian; Tica, Oana Sorina; Georgescu, Claudia Valentina; Pirici, Daniel; Bogdan, Maria; Ciurea, Tudorel; Mogoantă, Stelian ŞtefăniŢă; Georgescu, Corneliu Cristian; Comănescu, Alexandru Cristian; Bălşeanu, Tudor Adrian; Ciurea, Raluca Niculina; Osiac, Eugen; Buga, Ana Maria; Ciurea, Marius Eugen

    2016-01-01

    G-protein coupled estrogen receptor 1 (GPER), a particular extranuclear estrogen receptor (ER), seems not to be significantly involved in normal female phenotype development but especially associated with severe genital malignancies. This study investigated the GPER expression in different types of normal and abnormal proliferative endometrium, and the correlation with the presence of ERα. GPER was much highly expressed in cytoplasm (than onto cell membrane), contrary to ERα, which was almost exclusively located in the nucleus. Both ERs' densities were higher in columnar epithelial then in stromal cells, according with higher estrogen-sensitivity of epithelial cells. GPER and ERα density decreased as follows: complex endometrial hyperplasia (CEH) > simple endometrial hyperplasia (SHE) > normal proliferative endometrium (NPE) > atypical endometrial hyperplasia (AEH), ERα' density being constantly higher. In endometrial adenocarcinomas, both ERs were significant lower expressed, and widely varied, but GPER÷ERα ratio was significantly increased in high-grade lesions. The nuclear ERα is responsible for the genomic (the most important) mechanism of action of estrogens, involved in cell growth and multiplication. In normal and benign proliferations, ERα expression is increased as an evidence of its effects on cells with conserved architecture, in atypical and especially in malignant cells ERα's (and GPER's) density being much lower. Cytoplasmic GPER probably interfere with different tyrosine÷protein kinases signaling pathways, also involved in cell growth and proliferation. In benign endometrial lesions, GPER's presence is, at least partially, the result of an inductor effect of ERα on GPER gene transcription. In high-grade lesions, GPER÷ERα ratio was increased, demonstrating that GPER is involved per se in malignant endometrial proliferations.

  16. Noninvasive skin fluorescence spectroscopy for detection of abnormal glucose tolerance

    Directory of Open Access Journals (Sweden)

    Edward L. Hull, PhD

    2014-09-01

    Full Text Available The ENGINE study evaluated noninvasive skin fluorescence spectroscopy (SFS for detection of abnormal glucose tolerance (AGT. The AGT detection performance of SFS was compared to fasting plasma glucose (FPG and hemoglobin A1C (A1C. The study was a head-to-head comparison of SFS to FPG and A1C in an at-risk population of 507 subjects, with no prior diagnosis of diabetes, each of whom received a 75 g, two-hour oral glucose tolerance test (OGTT. Subjects were measured by SFS on multiple days in fasting and non-fasting states. SFS data were acquired and analyzed with the SCOUT DS® device (VeraLight, Albuquerque, NM, USA. Disease truth was AGT, defined as OGTT ≥ 7.8 mmol/L. Sensitivity, false positive rate (FPR, ROC area, and equal error rate (EER for detection of AGT were computed. The reproducibility of SFS and FPG was assessed. The AGT sensitivity of SFS at the device's recommended screening threshold of 50 was 75.2%, higher than that of FPG (thresholds of 5.6 mmol/L or 6.1 mmol/L and A1C (thresholds of 5.7% or 6.0%. The SFS FPR was 42.1%, comparable to an A1C threshold of 5.7% (FPR = 43.5%. The EERs of SFS, FPG and A1C were similar, as were the partial ROC areas for FPRs of 20–50%. The reproducibility of SFS was 7.7% versus 8.1% for FPG. SFS had similar AGT detection performance to FPG and A1C and is a viable alternative to screening individuals for AGT.

  17. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

    NARCIS (Netherlands)

    Gomez Garcia, E.B.; Lobbes, M.B.; van de Vijver, K.; Keymeulen, K.; van der Ent, F.; Yntema, H.G.; Tjan-Heijnen, V.C.; Boetes, C.

    2012-01-01

    Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized

  18. Widespread Epigenetic Abnormalities Suggest a Broad DNA Methylation Erasure Defect in Abnormal Human Sperm

    Science.gov (United States)

    Siegmund, Kimberly; Yang, Allen; Laird, Peter W.; Sokol, Rebecca Z.

    2007-01-01

    Background Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis. Methodology/Principal Finding We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm. Conclusions This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line. PMID:18074014

  19. Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm.

    Directory of Open Access Journals (Sweden)

    Sahar Houshdaran

    Full Text Available BACKGROUND: Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis. METHODOLOGY/PRINCIPAL FINDING: We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm. CONCLUSIONS: This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line.

  20. Preparing for Multiple Births

    Science.gov (United States)

    ... Video Games, and the Internet Preparing for Multiple Births KidsHealth > For Parents > Preparing for Multiple Births Print ... a combination of both. The Risks of Multiple Births The most common risk involved with multiple births ...

  1. Multiple Myeloma Symptoms

    Science.gov (United States)

    ... Treatment Center Finder Home » About Multiple Myeloma » Symptoms Multiple Myeloma Symptoms Multiple myeloma symptoms may vary by patient, ... to be managed or prevented. The most common multiple myeloma symptoms may include: Bone pain or bone fractures ...

  2. Effects of resocialization on post-weaning social isolation-induced abnormal aggression and social deficits in rats.

    Science.gov (United States)

    Tulogdi, Aron; Tóth, Máté; Barsvári, Beáta; Biró, László; Mikics, Eva; Haller, József

    2014-01-01

    As previously shown, rats isolated from weaning develop abnormal social and aggressive behavior characterized by biting attacks targeting vulnerable body parts of opponents, reduced attack signaling, and increased defensive behavior despite increased attack counts. Here we studied whether this form of violent aggression could be reversed by resocialization in adulthood. During the first weak of resocialization, isolation-reared rats showed multiple social deficits including increased defensiveness and decreased huddling during sleep. Deficits were markedly attenuated in the second and third weeks. Despite improved social functioning in groups, isolated rats readily showed abnormal features of aggression in a resident-intruder test performed after the 3-week-long resocialization. Thus, post-weaning social isolation-induced deficits in prosocial behavior were eliminated by resocialization during adulthood, but abnormal aggression was resilient to this treatment. Findings are compared to those obtained in humans who suffered early social maltreatment, and who also show social deficits and dysfunctional aggression in adulthood.

  3. Optical Coherence Tomography Imaging of Choroidal Abnormalities in Neurofibromatosis Type 1

    Directory of Open Access Journals (Sweden)

    Shinji Makino

    2013-01-01

    Full Text Available We report a case of neurofibromatosis type 1 (NF1 examined by infrared fundus autofluorescence (IR-FAF and optical coherence tomography (OCT to characterize the associated choroidal abnormalities. The conventional ophthalmoscopic findings were unremarkable. However, IR-FAF revealed multiple bright patchy lesions in the choroid of the posterior pole, in both eyes. OCT demonstrated irregular hyperreflectivity at the sites of these lesions. Patients with NF1 may have typical choroidal lesions that are visible on IR-FAF, which can be confirmed through OCT.

  4. Planispheric multiplanar reformatted CT: a new method for evaluation of paediatric congenital spine abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Menten, Renaud; Saint-Martin, Christine; Clapuyt, Philippe [Saint Luc University Hospital, Department of Paediatric Radiology, Brussels (Belgium); Mousny, Maryline [Saint Luc University Hospital, Department of Paediatric Orthopaedics, Brussels (Belgium)

    2005-06-01

    We describe an original reconstruction method for spine CT performed in four patients with single or multiple congenital spine abnormalities. Conventional radiographic imaging is at the forefront of diagnosis and follow-up of congenital scoliosis, but is frequently difficult to interpret. Three-dimensional CT reconstruction facilitates visualization of complex anatomic structures, but does not give a reliable assessment of failures of segmentation. Mental three-dimensional reconstruction of the information displayed by classical multiplanar reformatted CT remains difficult. Planispheric reformatted imaging allows the visualization of all deformities in a single plane. (orig.)

  5. Pulmonary interstitial glycogenosis in the setting of lung growth abnormality: radiographic and pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Castillo, Monette; Vade, Aruna; Lim-Dunham, Jennifer Eden [Loyola University Health System, Department of Radiology, Maywood, IL (United States); Masuda, Emi [Henry Ford Hospital, Department of Radiology, Detroit, MI (United States); Massarani-Wafai, Rasan [Loyola University Health System, Department of Pathology, Maywood, IL (United States)

    2010-09-15

    Pulmonary interstitial glycogenosis (PIG) is a rare pediatric interstitial lung disease. We report a case of a term boy presenting with tachypnea at birth requiring supplemental oxygen. Chest radiographs followed by high-resolution CT (HRCT) demonstrated hyperinflation and diffuse interstitial markings interspersed with multiple cystic spaces. An open lung biopsy demonstrated a minor component of PIG superimposed upon poor alveolarization. PIG in the setting of lung growth abnormality might be more common than previously described. Additionally, radiographic findings associated with most pediatric interstitial lung diseases are nonspecific, and histopathologic correlation is essential for diagnosis. (orig.)

  6. Visual fatigue and visual evoked potentials in multiple sclerosis, glaucoma, ocular hypertension and Parkinson's disease.

    OpenAIRE

    1984-01-01

    Visual evoked potential (VEP) abnormality is widely used as an objective indication of visual pathophysiology in the diagnosis of multiple sclerosis. One major limitation of this test is that VEP abnormality is not specific to multiple sclerosis. In an attempt to explore ways of making the VEP test more specific, changes were measured in VEPs caused by superimposing upon the VEP stimulus either a flicker or a moving pattern. The rationale was to test for visual fatigueability, since it is kno...

  7. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    Science.gov (United States)

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  8. Proximal patellar tendinosis and abnormalities of patellar tracking

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    Allen, G.M. [Royal Hospital Haslar, Gosport (United Kingdom); Tauro, P.G. [Northern Hospital,Victoria (Australia); Ostlere, S.J. [Nuffield Orthopaedic Hospital, Oxford (United Kingdom)

    1999-04-01

    Objective. To assess whether an association exists between patellar tendinosis and abnormal patellar tracking. Design and patients. The MRI examinations of 630 patients (i.e. 860 knees) referred with anterior knee pain over a 4-year period were assessed in retrospect for the presence of patellar tendinosis and abnormal patellar tracking. The images of the patients with patellar tendinosis were reviewed and the location within the patellar tendon was recorded. Results. There were 44 knees with proximal patellar tendinosis. Twenty-four of these were considered to have normal patellar tracking and 20 to have abnormal patellar tracking. In the group of 816 knees without proximal patellar tendinosis, 581 were considered to have normal patellar tracking and 235 knees to have abnormal patellar tracking. When the two groups were compared there was a statistically significant difference in the ratio of patients with and without abnormal tracking. Conclusion. In patients referred with anterior knee pain or suspected abnormal patellar tracking there is a significant association between proximal patellar tendinosis and abnormal patellar tracking. (orig.) With 2 figs., 5 tabs., 10 refs.

  9. Hair Shaft Abnormality in Children: a Narrative Review

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    Ghasem Rahmatpour Rokni

    2017-08-01

    Full Text Available Background Hair is an ectodermal structure, and its formation is regulated by master genes important in embryology. Hair shaft consists of three major regions: the medulla, cortex and cuticle. Hair shaft abnormality will divide structural hair abnormalities into two broad categories - those associated with increased hair fragility and those not associated with increased hair fragility. We conducted a review study to assess hair shaft abnormality in children. Materials and Methods We conducted a review of all papers published on hair shaft abnormalities. A literature search was performed using PubMed, Scopus and Google Scholar on papers publish from 1990 to 2016. The search terms were: hair shaft abnormality, Hair loss, Hair fragility. All abstracts and full text English-language articles were studied. Results While common developmental and structural features are shared in hair follicles and hair shafts. Anomalies of the hair shaft are separated into those with and those without increased hair fragility. Conclusion Although hair has no vital function, it may serve as an indicator for human health. Clinical and morphological hair abnormalities can be clues to specific complex disorders. Hair shaft abnormalities can be inherited or acquired, can reflect a local problem or a systemic disease.

  10. Chromosome abnormalities in Indonesian patients with short stature

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    Paramayuda Chrysantine

    2012-08-01

    Full Text Available Abstract Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40 and autosomal abnormalities in 10% (4/40, whereas those with short stature only, 42.1% (24/57 had sex chromosome abnormalities and 1.75% (1/57 had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14(q10;q10. Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

  11. Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

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    Mierla Dana

    2015-06-01

    Full Text Available The purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities. In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

  12. Prevalence of chromosomal abnormalities in infertile couples in romania.

    Science.gov (United States)

    Mierla, D; Malageanu, M; Tulin, R; Albu, D

    2015-06-01

    The purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher's exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities). In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

  13. Ocular microtremor (OMT): a new neurophysiological approach to multiple sclerosis.

    Science.gov (United States)

    Bolger, C; Bojanic, S; Sheahan, N; Malone, J; Hutchinson, M; Coakley, D

    2000-05-01

    Using a piezoelectric transducer, the frequency and pattern of ocular microtremor (OMT) between 50 normal subjects and 50 patients with multiple sclerosis were compared. Controls were age matched. All records were analysed blindly. The frequency of OMT in the normal group was 86 (SD 6) Hz, which was significantly different from that of the multiple sclerosis group (71 (SD) 10 Hz, p<0.001). Those in the multiple sclerosis group with clinical evidence of brain stem or cerebellar disease (n=36) had an average OMT frequency of 67 (SD 9) Hz (p<0.001) compared with normal (n=86), whereas those with no evidence of brain stem or cerebellar involvement (n=14) had a frequency of 81.2 (SD 6) Hz (p<0.05, n=64). The differences between the two multiple sclerosis groups were also significant (p<0. 001, n=50). At least one abnormality (frequency and pattern) of OMT activity was seen in 78% of patients with multiple sclerosis. In the presence of brain stem or cerebellar disease 89% had abnormal records whereas in the absence of such disease 50% had abnormal records. This is the first report of the application of this technique to patients with multiple sclerosis. The results suggest that OMT activity may be of value in the assessment of multiple sclerosis.

  14. Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models.

    Science.gov (United States)

    Magrané, Jordi; Cortez, Czrina; Gan, Wen-Biao; Manfredi, Giovanni

    2014-03-15

    Neuronal mitochondrial morphology abnormalities occur in models of familial amyotrophic lateral sclerosis (ALS) associated with SOD1 and TDP43 mutations. These abnormalities have been linked to mitochondrial axonal transport defects, but the temporal and spatial relationship between mitochondrial morphology and transport alterations in these two distinct genetic forms of ALS has not been investigated in vivo. To address this question, we crossed SOD1 (wild-type SOD1(WT) and mutant SOD1(G93A)) or TDP43 (mutant TDP43(A315T)) transgenic mice with mice expressing the fluorescent protein Dendra targeted to mitochondria in neurons (mitoDendra). At different time points during the disease course, we studied mitochondrial transport in the intact sciatic nerve of living mice and analyzed axonal mitochondrial morphology at multiple sites, spanning from the spinal cord to the motor terminals. Defects of retrograde mitochondrial transport were detected at 45 days of age, before the onset of symptoms, in SOD1(G93A) and TDP43(A315T) mice, but not in SOD1(WT). At later disease stages, also anterograde mitochondrial transport was affected in both mutant mouse lines. In SOD1(G93A) mice, mitochondrial morphological abnormalities were apparent at 15 days of age, thus preceding transport abnormalities. Conversely, in TDP43(A315T) mice, morphological abnormalities appeared after the onset of transport defects. Taken together, these findings demonstrate that neuronal mitochondrial transport and morphology abnormalities occur in vivo and that they are common denominators of different genetic forms of the ALS. At the same time, differences in the temporal and spatial manifestation of mitochondrial abnormalities between the two mouse models of familial ALS imply that different molecular mechanisms may be involved.

  15. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

    Science.gov (United States)

    Baumgartner, M R; Jansen, G A; Verhoeven, N M; Mooyer, P A; Jakobs, C; Roels, F; Espeel, M; Fourmaintraux, A; Bellet, H; Wanders, R J; Saudubray, J M

    2000-01-01

    We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size. These abnormal peroxisomes lacked catalase as did peroxisomes in fibroblasts of this patient. Such generalized peroxisomal abnormalities are not present in classic Refsum disease.

  16. Electrophysiological abnormalities associated with extensive myelinated retinal nerve fibers

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    Su Ann Tay

    2012-01-01

    Full Text Available An observational case report of electrophysiological abnormalities in a patient with anisomyopic amblyopia as a result of unilateral extensive myelinated retinal nerve fibers (MNFs is illustrated. The electrophysiological readings revealed an abnormal pattern electroretinogram (PERG but normal full-field electroretinogram readings in the affected eye. The visual-evoked potential was also undetectable in that eye. Our findings suggest that extensive MNFs can be associated with electrophysiological abnormalities, in particular the PERG, which can aid in diagnosing the cause of impaired vision when associated with amblyopia.

  17. Transvaginal Ultrasound for the Diagnosis of Abnormal Uterine Bleeding.

    Science.gov (United States)

    Wheeler, Karen C; Goldstein, Steven R

    2017-03-01

    Transvaginal ultrasound is the first-line imaging test for the evaluation of abnormal uterine bleeding in both premenopausal and postmenopausal women. Transvaginal ultrasound can be used to diagnose structural causes of abnormal bleeding such as polyps, adenomyosis, leiomyomas, hyperplasia, and malignancy, and can also be beneficial in making the diagnosis of ovulatory dysfunction. Traditional 2-dimensional imaging is often enhanced by the addition of 3-dimension imaging with coronal reconstruction and saline infusion sonohysterography. In this article we discuss specific ultrasound findings and technical considerations useful in the diagnosis of abnormal uterine bleeding.

  18. Cardiac Arrhythmias and Abnormal Electrocardiograms After Acute Stroke.

    Science.gov (United States)

    Ruthirago, Doungporn; Julayanont, Parunyou; Tantrachoti, Pakpoom; Kim, Jongyeol; Nugent, Kenneth

    2016-01-01

    Cardiac arrhythmias and electrocardiogram (ECG) abnormalities occur frequently but are often underrecognized after strokes. Acute ischemic and hemorrhagic strokes in some particular area of brain can disrupt central autonomic control of the heart, precipitating cardiac arrhythmias, ECG abnormalities, myocardial injury and sometimes sudden death. Identification of high-risk patients after acute stroke is important to arrange appropriate cardiac monitoring and effective management of arrhythmias, and to prevent cardiac morbidity and mortality. More studies are needed to better clarify pathogenesis, localization of areas associated with arrhythmias and practical management of arrhythmias and abnormal ECGs after acute stroke.

  19. Abnormal Trichuris trichiura eggs detected during an epidemiological survey.

    Science.gov (United States)

    Ferrer-Rodríguez, Iván; Kozek, Wieslaw J

    2007-09-01

    Abnormal eggs of Trichuris trichiura were found in the stools of one of the patients during a study on the prevalence of intestinal parasitoses among an institutionalized population. The abnormalities observed included great variation in shape, size, and color. Similar atypical whipworm eggs have been reported in patients after treatment with mebendazole, thiabendazole, tetracloroethylene, and dithiazanine. Apparently some anthelminthics have an effect on the reproductive system of female T. trichiura, resulting in production of abnormal eggs, which could lead to misdiagnosis of the infection, since they can be mistaken as eggs of other parasites or artifacts.

  20. Relationship Between Migraine and Abnormal EEG Findings in Children

    OpenAIRE

    NEJAD BIGLARI, Habibe; Alireza REZAYI; NEJAD BIGLARI, Hamid; Alizadeh, Mehdi; AHMADABADI, Farzad

    2012-01-01

    How to Cite this Article: Nejad Biglari H, Rezayi A, Nejad Biglari H, Alizadeh M, Ahmadabadi F. Relationship Between Migraine and Abnormal EEG Findings in Children. Iran J Child Neurol 2012; 6(3): 21-24.ObjectiveMigraine is a disabling illness that causes absence from school andaffects the quality of life. It has been stated that headache may representan epileptic event. EEG abnormality is a prominent finding in children with migraine. The aim of this study was to evaluate EEG abnormalities i...

  1. Pathway-Specific Dopamine Abnormalities in Schizophrenia.

    Science.gov (United States)

    Weinstein, Jodi J; Chohan, Muhammad O; Slifstein, Mark; Kegeles, Lawrence S; Moore, Holly; Abi-Dargham, Anissa

    2017-01-01

    In light of the clinical evidence implicating dopamine in schizophrenia and the prominent hypotheses put forth regarding alterations in dopaminergic transmission in this disease, molecular imaging has been used to examine multiple aspects of the dopaminergic system. We review the imaging methods used and compare the findings across the different molecular targets. Findings have converged to suggest early dysregulation in the striatum, especially in the rostral caudate, manifesting as excess synthesis and release. Recent data showed deficit extending to most cortical regions and even to other extrastriatal subcortical regions not previously considered to be "hypodopaminergic" in schizophrenia. These findings yield a new topography for the dopaminergic dysregulation in schizophrenia. We discuss the dopaminergic innervation within the individual projection fields to provide a topographical map of this dual dysregulation and explore potential cellular and circuit-based mechanisms for brain region-dependent alterations in dopaminergic parameters. This refined knowledge is essential to better guide translational studies and efforts in early drug development. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  2. Resveratrol Ameliorates the Depressive-Like Behaviors and Metabolic Abnormalities Induced by Chronic Corticosterone Injection

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    Yu-Cheng Li

    2016-10-01

    Full Text Available Chronic glucocorticoid exposure is known to cause depression and metabolic disorders. It is critical to improve abnormal metabolic status as well as depressive-like behaviors in patients with long-term glucocorticoid therapy. This study aimed to investigate the effects of resveratrol on the depressive-like behaviors and metabolic abnormalities induced by chronic corticosterone injection. Male ICR mice were administrated corticosterone (40 mg/kg by subcutaneous injection for three weeks. Resveratrol (50 and 100 mg/kg, fluoxetine (20 mg/kg and pioglitazone (10 mg/kg were given by oral gavage 30 min prior to corticosterone administration. The behavioral tests showed that resveratrol significantly reversed the depressive-like behaviors induced by corticosterone, including the reduced sucrose preference and increased immobility time in the forced swimming test. Moreover, resveratrol also increased the secretion of insulin, reduced serum level of glucose and improved blood lipid profiles in corticosterone-treated mice without affecting normal mice. However, fluoxetine only reverse depressive-like behaviors, and pioglitazone only prevent the dyslipidemia induced by corticosterone. Furthermore, resveratrol and pioglitazone decreased serum level of glucagon and corticosterone. The present results indicated that resveratrol can ameliorate depressive-like behaviors and metabolic abnormalities induced by corticosterone, which suggested that the multiple effects of resveratrol could be beneficial for patients with depression and/or metabolic syndrome associated with long-term glucocorticoid therapy.

  3. Rare and Unusual Choroidal Abnormalities in a Patient with Systemic Lupus Erythematosus

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    Shinji Makino

    2013-08-01

    Full Text Available Purpose: To report a case of rare and unusual choroidal abnormalities in a 42-year-old woman with systemic lupus erythematosus (SLE. Methods: Images were obtained using fundus photography, fluorescein angiography, near-infrared reflectance (NIR imaging, and optical coherence tomography (OCT. Results: The patient had a history of SLE and central retinal artery occlusion in her right eye. Fundus examination showed no specific retinochoroidal abnormalities, with the exception of optic disc atrophy in her right eye and a peripapillary small hemorrhage in her left eye. However, NIR revealed multiple bright patchy lesions in the choroid of the posterior pole and the mid-periphery of the fundus in both eyes. OCT demonstrated irregular hyperreflectivity at the lesion sites. Conclusions: The observed choroidal abnormalities are highly specific findings and therefore indicative of neurofibromatosis type 1 (NF1. Since the coexistence of SLE and NF1 is extremely rare, this case provided the chance to examine the relationship between SLE and NF1.

  4. Incidence and Evaluation of Incidental Abnormal Bone Marrow Signal on Magnetic Resonance Imaging

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    Gunjan L. Shah

    2014-01-01

    Full Text Available Purpose. The increased use of magnetic resonance imaging (MRI has resulted in reports of incidental abnormal bone marrow (BM signal. Our goal was to determine the evaluation of an incidental abnormal BM signal on MRI and the prevalence of a subsequent oncologic diagnosis. Methods. We conducted a retrospective cohort study of patients over age 18 undergoing MRI between May 2005 and October 2010 at Tufts Medical Center (TMC with follow-up through November 2013. The electronic medical record was queried to determine imaging site, reason for scan, evaluation following radiology report, and final diagnosis. Results. 49,678 MRIs were done with 110 patients meeting inclusion criteria. Twenty two percent underwent some evaluation, most commonly a complete blood count, serum protein electrophoresis, or bone scan. With median follow-up of 41 months, 6% of patients were diagnosed with malignancies including multiple myeloma, non-Hodgkins lymphoma, metastatic non-small cell lung cancer, and metastatic adenocarcinoma. One patient who had not undergone evaluation developed breast cancer 24 months after the MRI. Conclusions. Incidentally noted abnormal or heterogeneous bone marrow signal on MRI was not inconsequential and should prompt further evaluation.

  5. Resveratrol Ameliorates the Depressive-Like Behaviors and Metabolic Abnormalities Induced by Chronic Corticosterone Injection.

    Science.gov (United States)

    Li, Yu-Cheng; Liu, Ya-Min; Shen, Ji-Duo; Chen, Jun-Jie; Pei, Yang-Yi; Fang, Xiao-Yan

    2016-10-13

    Chronic glucocorticoid exposure is known to cause depression and metabolic disorders. It is critical to improve abnormal metabolic status as well as depressive-like behaviors in patients with long-term glucocorticoid therapy. This study aimed to investigate the effects of resveratrol on the depressive-like behaviors and metabolic abnormalities induced by chronic corticosterone injection. Male ICR mice were administrated corticosterone (40 mg/kg) by subcutaneous injection for three weeks. Resveratrol (50 and 100 mg/kg), fluoxetine (20 mg/kg) and pioglitazone (10 mg/kg) were given by oral gavage 30 min prior to corticosterone administration. The behavioral tests showed that resveratrol significantly reversed the depressive-like behaviors induced by corticosterone, including the reduced sucrose preference and increased immobility time in the forced swimming test. Moreover, resveratrol also increased the secretion of insulin, reduced serum level of glucose and improved blood lipid profiles in corticosterone-treated mice without affecting normal mice. However, fluoxetine only reverse depressive-like behaviors, and pioglitazone only prevent the dyslipidemia induced by corticosterone. Furthermore, resveratrol and pioglitazone decreased serum level of glucagon and corticosterone. The present results indicated that resveratrol can ameliorate depressive-like behaviors and metabolic abnormalities induced by corticosterone, which suggested that the multiple effects of resveratrol could be beneficial for patients with depression and/or metabolic syndrome associated with long-term glucocorticoid therapy.

  6. Metabolic abnormalities in adolescents with polycystic ovary syndrome in south china

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    Mo Yaqin

    2010-11-01

    Full Text Available Abstract Background Adults with polycystic ovary syndrome (PCOS can have multiple metabolic abnormalities. However, studies in the adolescent population are still limited and these results seem to vary widely. This study was to investigate the metabolic abnormalities in adolescents with PCOS in South China and the potential risk factors contributed to these health risks. Methods Anthropometric measurements and biochemical parameters were evaluated in 128 adolescents with PCOS and their age- and BMI-matched controls. Results The prevalence of pre-diabetes, insulin resistance, hyperinsulinemia, dyslipidemia and metabolic syndrome in adolescents with PCOS was 11.7%, 46.9%, 29.7%, 22.7% and 4.7%, respectively. 16.3%, 74.4%, 67.4%, 39.5% and 14% of the PCOS subjects with BMI > 85th had pre-diabetes, insulin resistance, hyperinsulinemia, dyslipidemia and metabolic syndrome, whereas 9.4%, 32.9%, 10.6%, 14.1% and 0% of the PCOS subjects with BMI Conclusions Adolescents with PCOS in South China had more metabolic abnormalities than their age- and BMI-matched non-PCOS counterparts. Obesity could worsen insulin resistance, hyperinsulinemia and metabolic syndrome in PCOS adolescents.

  7. Reducing Abnormal Muscle Coactivation After Stroke Using a Myoelectric-Computer Interface: A Pilot Study.

    Science.gov (United States)

    Wright, Zachary A; Rymer, W Zev; Slutzky, Marc W

    2014-06-01

    Background A significant factor in impaired movement caused by stroke is the inability to activate muscles independently. Although the pathophysiology behind this abnormal coactivation is not clear, reducing the coactivation could improve overall arm function. A myoelectric computer interface (MCI), which maps electromyographic signals to cursor movement, could be used as a treatment to help retrain muscle activation patterns. Objective To investigate the use of MCI training to reduce abnormal muscle coactivation in chronic stroke survivors. Methods A total of 5 healthy participants and 5 stroke survivors with hemiparesis participated in multiple sessions of MCI training. The level of arm impairment in stroke survivors was assessed using the upper-extremity portion of the Fugl-Meyer Motor Assessment (FMA-UE). Participants performed isometric activations of up to 5 muscles. Activation of each muscle was mapped to different directions of cursor movement. The MCI specifically targeted 1 pair of muscles in each participant for reduction of coactivation. Results Both healthy participants and stroke survivors learned to reduce abnormal coactivation of the targeted muscles with MCI training. Out of 5 stroke survivors, 3 exhibited objective reduction in arm impairment as well (improvement in FMA-UE of 3 points in each of these patients). Conclusions These results suggest that the MCI was an effective tool in directly retraining muscle activation patterns following stroke.

  8. Children with Congenital Hypothyroidism Have Similar Neuroradiological Abnormal Findings as Healthy Ones

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    Marianna Rachmiel

    2013-01-01

    Full Text Available Objective. To assess the neuroradiological findings of children with congenital hypothyroidism (CHT compared to healthy controls (HC. Patients and Methods. Thirty children with CHT, mean age 12.5 ± 1.6 years, 14 (44.8% males, were compared with 38 HC mean age 11.7 ± 1.7 years, 16 (45.7% males. Clinical data were collected from medical charts and questionnaires seeking information on family history, birth and perinatal period events, medications, and overall health history. Neurocognitive function was assessed for global intelligence, visual and verbal memory, and executive functioning using standardized tests. Neuroimaging was performed using 1.5 T magnetic resonance imaging and assessed by two pediatric radiologists. Results. Children with CHT had a similar proportion of incidental findings as did the children in the HC group, at 43.3% and 39.5%, respectively, . Abnormalities of the sellar region were reported in 13.3% of CHT group and 7.9% of HC group, . Other incidental findings included cerebellar ectopia, choroidal fissure and pineal cysts, and multiple increased signal intensity foci. Neuroradiological findings were not associated with clinical and neurocognitive abnormalities. Conclusion. Neuroimaging of children with CHT demonstrated a similar incidence of structural abnormalities as in the healthy population. There is no association between those findings and neurocognitive function.

  9. Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b hnn stems from abnormal Shh signaling.

    Science.gov (United States)

    Horner, Vanessa L; Caspary, Tamara

    2011-07-01

    In the embryonic neural tube, multiple signaling pathways work in concert to create functional neuronal circuits in the adult spinal cord. In the ventral neural tube, Sonic hedgehog (Shh) acts as a graded morphogen to specify neurons necessary for movement. In the dorsal neural tube, bone morphogenetic protein (BMP) and Wnt signals cooperate to specify neurons involved in sensation. Several signaling pathways, including Shh, rely on primary cilia in vertebrates. In this study, we used a mouse mutant with abnormal cilia, Arl13b(hnn), to study the relationship between cilia, cell signaling, and neural tube patterning. Arl13b(hnn) mutants have abnormal ventral neural tube patterning due to disrupted Shh signaling; in addition, dorsal patterning defects occur, but the cause of these is unknown. Here we show that the Arl13b(hnn) dorsal patterning defects result from abnormal BMP signaling. In addition, we find that Wnt ligands are abnormally expressed in Arl13b(hnn) mutants; surprisingly, however, downstream Wnt signaling is normal. We demonstrate that Arl13b is required non-autonomously for BMP signaling and Wnt ligand expression, indicating that the abnormal Shh signaling environment in Arl13b(hnn) embryos indirectly causes dorsal defects.

  10. Cerebellum abnormalities in idiopathic generalized epilepsy with generalized tonic-clonic seizures revealed by diffusion tensor imaging.

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    Yonghui Li

    Full Text Available Although there is increasing evidence suggesting that there may be subtle abnormalities in idiopathic generalized epilepsy (IGE patients using modern neuroimaging techniques, most of these previous studies focused on the brain grey matter, leaving the underlying white matter abnormalities in IGE largely unknown, which baffles the treatment as well as the understanding of IGE. In this work, we adopted multiple methods from different levels based on diffusion tensor imaging (DTI to analyze the white matter abnormalities in 14 young male IGE patients with generalized tonic-clonic seizures (GTCS only, comparing with 29 age-matched male healthy controls. First, we performed a voxel-based analysis (VBA of the fractional anisotropy (FA images derived from DTI. Second, we used a tract-based spatial statistics (TBSS method to explore the alterations within the white matter skeleton of the patients. Third, we adopted region-of-interest (ROI analyses based on the findings of VBA and TBSS to further confirm abnormal brain regions in the patients. At last, considering the convergent evidences we found by VBA, TBSS and ROI analyses, a subsequent probabilistic fiber tractography study was performed to investigate the abnormal white matter connectivity in the patients. Significantly decreased FA values were consistently observed in the cerebellum of patients, providing fresh evidence and new clues for the important role of cerebellum in IGE with GTCS.

  11. Trigeminal root entry zone involvement in neuromyelitis optica and multiple sclerosis.

    Science.gov (United States)

    Sugiyama, Atsuhiko; Mori, Masahiro; Masuda, Hiroki; Uchida, Tomohiko; Muto, Mayumi; Uzawa, Akiyuki; Ito, Shoichi; Kuwabara, Satoshi

    2015-08-15

    Trigeminal root entry zone abnormality on brain magnetic resonance imaging has been frequently reported in multiple sclerosis patients, but it has not been investigated in neuromyelitis optica patients. Brain magnetic resonance imaging of 128 consecutive multiple sclerosis patients and 46 neuromyelitis optica patients was evaluated. Trigeminal root entry zone abnormality was present in 11 (8.6%) of the multiple sclerosis patients and two (4.3%) of the neuromyelitis optica patients. The pontine trigeminal root entry zone may be involved in both multiple sclerosis and neuromyelitis optica.

  12. Epigenetic Drugs for Multiple Sclerosis.

    Science.gov (United States)

    Peedicayil, Jacob

    2016-01-01

    There is increasing evidence that abnormalities in epigenetic mechanisms of gene expression contribute to the development of multiple sclerosis (MS). Advances in epigenetics have given rise to a new class of drugs, epigenetic drugs. Although many classes of epigenetic drugs are being investigated, at present most attention is being paid to two classes of epigenetic drugs: drugs that inhibit DNA methyltransferase (DNMTi) and drugs that inhibit histone deacetylase (HDACi). This paper discusses the potential use of epigenetic drugs in the treatment of MS, focusing on DNMTi and HDACi. Preclinical drug trials of DNMTi and HDACi for the treatment of MS are showing promising results. Epigenetic drugs could improve the clinical management of patients with MS.

  13. Association of Concussion With Abnormal Menstrual Patterns in Adolescent and Young Women.

    Science.gov (United States)

    Snook, Meredith L; Henry, Luke C; Sanfilippo, Joseph S; Zeleznik, Anthony J; Kontos, Anthony P

    2017-09-01

    was significantly higher among patients with concussion than among those with an orthopedic injury (odds ratio, 5.85; 95% CI, 1.61-21.22). Adolescent and young women may have increased risk of multiple abnormal menstrual patterns after concussion. Because abnormal menstrual patterns can have important health implications, monitoring menstrual patterns after concussion may be warranted in this population. Additional research is needed to elucidate the relationship between long-term consequences of concussion and the function of the hypothalamic-pituitary-ovarian axis.

  14. Abnormal Uterine Bleeding: American College of Nurse-Midwives.

    Science.gov (United States)

    2016-07-01

    Variations in uterine bleeding, termed abnormal uterine bleeding, occur commonly among women and often are physiologic in nature with no significant consequences. However, abnormal uterine bleeding can cause significant distress to women or may signify an underlying pathologic condition. Most women experience variations in menstrual and perimenstrual bleeding in their lifetimes; therefore, the ability of the midwife to differentiate between normal and abnormal bleeding is a key diagnostic skill. A comprehensive history and use of the PALM-COEIN classification system will provide clear guidelines for clinical management, evidence-based treatment, and an individualized plan of care. The purpose of this Clinical Bulletin is to define and describe classifications of abnormal uterine bleeding, review updated terminology, and identify methods of assessment and treatment using a woman-centered approach.

  15. Declining total leucoyte count, an indication of transient abnormal myelopoisis

    Directory of Open Access Journals (Sweden)

    Yogesh K Yadav

    2012-01-01

    Full Text Available Neonates with Down syndrome have an increased predisposition to transient abnormal myelopoisis, a haematological abnormality which is characterized by uncontrolled proliferation of myeloblasts. The unique ability of this disorder to spontaneously enter in to a state of remission led to the creation of a new class in 2008 World Health Organization (W.H.O. classification of haemopoitic and lymphoid tumours. It has now been classified as transient abnormal myelopoisis (TAM. The cause of remission is still not clear although it is possibly linked to the abnormal expression of GATA-1 transcription factor and to a switch from hepatic haematopoesis to medullary haematopoesis. Simple laboratory monitoring by serial complete blood count and peripheral smear can give indication of this rare disorder. As very few cases of this disorder exist we share our experience and report a case of transient myeloproliferative disorder in a male newborn having Down syndrome.

  16. Prevalence of hematological abnormalities and malnutrition in HIV ...

    African Journals Online (AJOL)

    Background: Hematological abnormalities such as anemia, neutropenia, and ... caused by the HIV and contribute to the morbidity and mortality of HIV.infected children. ... and Pearson correlation coefficient were used for statistical analysis.

  17. Improvement of Brain Reward Abnormalities by Antipsychotic Monotherapy in Schizophrenia

    DEFF Research Database (Denmark)

    Nielsen, Mette Ødegaard; Rostrup, Egill; Wulff, Sanne;

    2012-01-01

    CONTEXT Schizophrenic symptoms are linked to a dysfunction of dopamine neurotransmission and the brain reward system. However, it remains unclear whether antipsychotic treatment, which blocks dopamine transmission, improves, alters, or even worsens the reward-related abnormalities. OBJECTIVE To i...

  18. Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly.

    Science.gov (United States)

    Gezer, C; Ekin, A; Ozeren, M; Taner, C E; Ozer, O; Koc, A; Bilgin, M; Gezer, N S

    2014-07-01

    Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.

  19. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Ullrich, N J; Silvera, V M; Campbell, S E; Gordon, L B

    2012-09-01

    HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed. Eight newly identified abnormalities involving the calvaria, skull base, and soft tissues of the face and orbits were present with prevalences between 43% and 100%. These included J-shaped sellas, a mottled appearance and increased vascular markings of the calvaria, abnormally configured mandibular condyles, hypoplastic articular eminences, small zygomatic arches, prominent parotid glands, and optic nerve kinking. This expanded craniofacial characterization helps link disease features and improves our ability to evaluate how underlying genetic and cellular abnormalities culminate in a disease phenotype.

  20. Retinal microvascular abnormalities and stroke: a systematic review

    NARCIS (Netherlands)

    Doubal, F.N.; Hokke, P.E.; Wardlaw, J.M.

    2009-01-01

    Background: Lacunar strokes account for 25% of ischaemic strokes, but their precise aetiology is unknown. Similarities between the retinal and cerebral small vessels mean that clarification of the exact relationship between retinal microvascular abnormalities and stroke, and particularly with stroke

  1. Musculo-skeletal abnormalities in patients with Marfan syndrome.

    Science.gov (United States)

    Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

  2. Factors predictive of abnormal semen parameters in male partners ...

    African Journals Online (AJOL)

    of couples attending the infertility clinic of a tertiary hospital in south-western ... treatment targeted at the identified aetiological factors. .... that prognosis is inversely proportional to the number of abnormal .... Semen parameters and hormone.

  3. Fetal MRI in Prenatal Diagnosis of CNS Abnormalities

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-02-01

    Full Text Available The value of fetal MRI (fMRI compared to ultrasound in the prenatal detection of CNS abnormalities and impact on counseling were determined in 25 pregnant women examined at University of Dusseldorf, Germany.

  4. Video Taping and Abnormal Psychology: Dramatized Clinical Interviews.

    Science.gov (United States)

    Lyons, Michael J.; And Others

    1984-01-01

    Students in an abnormal psychology course worked in teams to produce dramatizations of diagnostic interviews and then presented them in class. Positive and negative aspects of the activity are discussed. (RM)

  5. Social and Abnormal Psychology Textbooks: An Objective Analysis.

    Science.gov (United States)

    Christopher, Andrew N.; Griggs, Richard A.; Hagans, Chad L.

    2000-01-01

    Provides feature and content analyses of 14 social and 17 abnormal psychology full-length textbooks from 1995-98 that are available for undergraduate psychology courses. Provides instructors of these courses a means for more informed text selection. (CMK)

  6. The significance of ultrastructural abnormalities of human cilia.

    Science.gov (United States)

    Fox, B; Bull, T B; Makey, A R; Rawbone, R

    1981-12-01

    The electronmicroscopic structure of cilia was studied from the inferior turbinate of the nose in 22 adults, and in 84 biopsies from the bronchial tree of 40 adults. The incidence of compound cilia and abnormal microtubular structures was assessed. There were significant variations in the incidence of abnormalities in different parts of the airways and even within different areas of the same electronmicroscopic section. The focal nature of differences in structure of cilia indicate that abnormalities found in a single biopsy do not necessarily reflect a generalized change in the bronchial tree. Thus, such a finding should not be used as evidence that the abnormalities of cilia are the cause of decrease in mucociliary clearance or that they play a role in the pathogenesis of bronchiectasis and sinusitis.

  7. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Institute of Scientific and Technical Information of China (English)

    Colombo; Sri Lanka

    2015-01-01

    Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

  8. Unsupervised abnormality detection using saliency and Retinex based color enhancement.

    Science.gov (United States)

    Deeba, Farah; Mohammed, Shahed K; Bui, Francis M; Wahid, Khan A

    2016-08-01

    An efficient and automated abnormality detection method can significantly reduce the burden of screening of the enormous visual information resulting from capsule endoscopic procedure. As a pre-processing stage, color enhancement could be useful to improve the image quality and the detection performance. Therefore, in this paper, we have proposed a two-stage automated abnormality detection algorithm. In the first stage, an adaptive color enhancement method based on Retinex theory is applied on the endoscopic images. In the second stage, an efficient salient region detection algorithm is applied to detect the clinically significant regions. The proposed algorithm is applied on a dataset containing images with diverse pathologies. The algorithm can successfully detect a significant percentage of the abnormal regions. From our experiment, it was evident that color enhancement method improves the performance of abnormality detection. The proposed algorithm can achieve a sensitivity of 97.33% and specificity of 79%, higher than state-of-the-art performance.

  9. EEG Abnormalities as Diagnostic and Prognostic Factor for Encephalitis

    Directory of Open Access Journals (Sweden)

    Gavrilovic Aleksandar

    2016-09-01

    Full Text Available The aim of the study is to examine whether EEG abnormalities in patients with encephalitis might be prognostic and diagnostic factors for final epilepsy outcome and/or be correlated with the severity of the disability.

  10. Abnormal Changes of Synaptic Excitability in Migraine with Aura

    DEFF Research Database (Denmark)

    Siniatchkin, Michael; Sendacki, Mascha; Moeller, Friederike

    2012-01-01

    Migraine patients are characterized by altered cortical excitability and information processing between attacks. The relationship between these abnormalities is still poorly understood. In this study, visual evoked potentials (VEP) and proton magnetic resonance spectroscopy were recorded simultan...

  11. Abnormal amphibians on U.S. National Wildlife Refuges

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This project contains a journal article, a news release, FAQs, a fact sheet, photos, and a dataset related to a 10-year study of amphibian abnormalities on U.S....

  12. Manganese Abnormity in Holocene Sediments of the Bohai Sea

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Manganese abnormity has been observed in the Holocene sediments of the mud area of Bohai Sea. On the basis of grain size, chemical composition, heavy mineral content and accelerator mass spectrometry (AMS) 14C dating of foraminifer, relationships between manganese abnormity and sedimentation rates, material source, hydrodynamic conditions are probed. Manganese abnormity occurred during the Middle Holocene when sea level and sedimentation rates were higher than those at present. Sedimentary hiatus was not observed when material sources and hydrodynamic conditions were quite similar. Compared with the former period, the latter period showed a decrease in reduction environment and an inclination toward oxidation environment with high manganese content, whereas provenance and hydrodynamic conditions showed only a slight change. From the above observations, it can be concluded that correlation among manganese abnormity, material source, and hydrodynamic conditions is not obvious. Redox environment seems to be the key factor for manganese enrichment, which is mainly related to marine authigenic process.

  13. Effects of abnormal excitation on the dynamics of spiral waves

    Science.gov (United States)

    Min-Yi, Deng; Xue-Liang, Zhang; Jing-Yu, Dai

    2016-01-01

    The effect of physiological and pathological abnormal excitation of a myocyte on the spiral waves is investigated based on the cellular automaton model. When the excitability of the medium is high enough, the physiological abnormal excitation causes the spiral wave to meander irregularly and slowly. When the excitability of the medium is low enough, the physiological abnormal excitation leads to a new stable spiral wave. On the other hand, the pathological abnormal excitation destroys the spiral wave and results in the spatiotemporal chaos, which agrees with the clinical conclusion that the early after depolarization is the pro-arrhythmic mechanism of some anti-arrhythmic drugs. The mechanisms underlying these phenomena are analyzed. Project supported by the National Natural Science Foundation of China (Grant Nos. 11365003 and 11165004).

  14. Incidental sinus abnormalities in 256 patients referred for brain MRI

    Directory of Open Access Journals (Sweden)

    Ghanaati H

    2007-06-01

    Full Text Available Background: Imaging abnormalities in the paranasal sinuses are regularly noted as incidental findings on MRI, however, little is known about their prevalence in the Iranian population. The purpose of this study was to classify these findings in the paranasal sinuses as seen on MRI and to investigate the prevalence, according to site and type of paranasal abnormality. Methods: In this cross-sectional study, the T2-weighted axial MRI of 256 patients with diseases unrelated to their paranasal sinuses were reviewed between May 2002 and June 2003. The findings were categorized according to the anatomic location and the imaging characteristics of the abnormality. The abnormalities recorded included total sinus opacification, mucoperiosteal thickening >5mm, air fluid levels and retention cysts or polyps. Unilateral or bilateral involvement and septal deviation were also noted. A sinus was considered normal if it was fully aerated and no soft-tissue density was apparent within the cavity. Results: Among our cases, 111 (43.5% were male and 145 (56.5% were female. Of these patients, abnormalities in one or more of the sinus groups were found in 110 subjects (42.9%, 55.5% of which were male and 44.5% were female (P=0.001. Maxillary sinus abnormalities were observed in 66.4% of the patients, while ethmoid sinus abnormalities were found in 63.6%. Of the ethmoid abnormalities, 21% were found in the anterior section, 9% in the middle ethmoid, and 8% in the posterior ethmoid. The most common abnormality found was mucosal thickening. Among our cases, 23.4% had septal deviation, which was significantly higher among those with sinusitis (29% versus 19.1%; P<0.01. Of those patients with sinus involvement, 16% were involved in the sphenoid sinus and 5% in the frontal sinus. The results obtained from the patients with sinus abnormality revealed that 85% suffered from cough, nasal obstruction, runny nose, facial pain and post nasal discharge and 24% had been diagnosed

  15. Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.

    Science.gov (United States)

    Bhisitkul, R B; Rizen, M

    2004-03-01

    To describe multiple retinal abnormalities in a patient with Bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. Clinical data were collected over 1 year of follow up, and ocular abnormalities in Bloom syndrome were reviewed from the literature. A 39 year old man with a rare autosomal recessive "chromosome breakage" syndrome was followed. A variety of ocular findings have been reported in Bloom syndrome; this patient had hard drusen in both maculae, non-proliferative diabetic retinopathy, and haemorrhagic retinopathy as a herald of acute lymphocytic leukaemia. Bloom syndrome is a rare disorder of genomic instability, in which a variety of ocular abnormalities have been found. Described here are multiple retinal manifestations arising from characteristic systemic associations of diabetes mellitus and leukaemia, as well as macular hard drusen.

  16. Frequency and Prognostic Significance of Abnormal Liver Function Tests in Patients With Cardiogenic Shock.

    Science.gov (United States)

    Jäntti, Toni; Tarvasmäki, Tuukka; Harjola, Veli-Pekka; Parissis, John; Pulkki, Kari; Sionis, Alessandro; Silva-Cardoso, Jose; Køber, Lars; Banaszewski, Marek; Spinar, Jindrich; Fuhrmann, Valentin; Tolonen, Jukka; Carubelli, Valentina; diSomma, Salvatore; Mebazaa, Alexandre; Lassus, Johan

    2017-10-01

    Cardiogenic shock (CS) is a cardiac emergency often leading to multiple organ failure and death. Assessing organ dysfunction and appropriate risk stratification are central for the optimal management of these patients. The purpose of this study was to assess the prevalence of abnormal liver function tests (LFTs), as well as early changes of LFTs and their impact on outcome in CS. We measured LFTs in 178 patients in CS from serial blood samples taken at 0 hours, 12 hours, and 24 hours. The associations of LFT abnormalities and their early changes with all-cause 90-day mortality were estimated using Fisher's exact test and Cox proportional hazards regression analysis. Baseline alanine aminotransferase (ALT) was abnormal in 58% of the patients, more frequently in nonsurvivors. Abnormalities in other LFTs analyzed (alkaline phosphatase, gamma-glutamyl transferase, and total bilirubin) were not associated with short-term mortality. An increase in ALT of >20% within 24 hours (ΔALT>+20%) was observed in 24% of patients. ΔALT>+20% was associated with a more than 2-fold increase in mortality compared with those with stable or decreasing ALT (70% and 28%, p +20% was associated with increased 90-day mortality independent of other known risk factors. In conclusion, an increase in ALT in the initial phase was seen in 1/4 of patients in CS and was independently associated with 90-day mortality. This finding suggests that serial ALT measurements should be incorporated in the clinical assessment of patients in CS. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Rapid point-of-care breath test for biomarkers of breast cancer and abnormal mammograms.

    Directory of Open Access Journals (Sweden)

    Michael Phillips

    Full Text Available BACKGROUND: Previous studies have reported volatile organic compounds (VOCs in breath as biomarkers of breast cancer and abnormal mammograms, apparently resulting from increased oxidative stress and cytochrome p450 induction. We evaluated a six-minute point-of-care breath test for VOC biomarkers in women screened for breast cancer at centers in the USA and the Netherlands. METHODS: 244 women had a screening mammogram (93/37 normal/abnormal or a breast biopsy (cancer/no cancer 35/79. A mobile point-of-care system collected and concentrated breath and air VOCs for analysis with gas chromatography and surface acoustic wave detection. Chromatograms were segmented into a time series of alveolar gradients (breath minus room air. Segmental alveolar gradients were ranked as candidate biomarkers by C-statistic value (area under curve [AUC] of receiver operating characteristic [ROC] curve. Multivariate predictive algorithms were constructed employing significant biomarkers identified with multiple Monte Carlo simulations and cross validated with a leave-one-out (LOO procedure. RESULTS: Performance of breath biomarker algorithms was determined in three groups: breast cancer on biopsy versus normal screening mammograms (81.8% sensitivity, 70.0% specificity, accuracy 79% (73% on LOO [C-statistic value], negative predictive value 99.9%; normal versus abnormal screening mammograms (86.5% sensitivity, 66.7% specificity, accuracy 83%, 62% on LOO; and cancer versus no cancer on breast biopsy (75.8% sensitivity, 74.0% specificity, accuracy 78%, 67% on LOO. CONCLUSIONS: A pilot study of a six-minute point-of-care breath test for volatile biomarkers accurately identified women with breast cancer and with abnormal mammograms. Breath testing could potentially reduce the number of needless mammograms without loss of diagnostic sensitivity.

  18. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly.

    Science.gov (United States)

    Wertelecki, W; Dev, V G; Superneau, D W

    1985-08-01

    Abnormal centromere-chromatid apposition (ACCA) was noted in a patient with Peters' anomaly. Previous reports of ACCA emphasized its association with tetraphocomelia and other congenital malformations (Roberts, SC Phocomelia, Pseudothalidomide Syndromes). This report expands the array of congenital malformations associated with ACCA and emphasizes the diagnostic importance of ocular defects for the ascertainment of additional cases of ACCA and its possible relationship with abnormal cell division.

  19. Targeting Histone Abnormality in Triple Negative Breast Cancer

    Science.gov (United States)

    2015-08-01

    respiration by 17β-estradiol through lactate dehydrogenase in MCF7 breast cancer cells. AACR Metabolism and Cancer , Baltimore, October 16-19, 2011. 20...1 AWARD NUMBER: W81XWH-14-1-0237 TITLE: Targeting Histone Abnormality in Triple-Negative Breast Cancer PRINCIPAL INVESTIGATOR: Yi...TITLE AND SUBTITLE 5a. CONTRACT NUMBER Targeting Histone Abnormality in Triple-Negative Breast Cancer 5b. GRANT NUMBER W81XWH-14-1-0237 5c

  20. Abnormal uterine bleeding in reproductive-aged women.

    Science.gov (United States)

    Matthews, Michelle L

    2015-03-01

    Abnormal uterine bleeding is a common medical condition with several causes. The International Federation of Gynecology and Obstetrics published guidelines in 2011 to develop universally accepted nomenclature and a classification system. In addition, the American College of Obstetrics and Gynecology recently updated recommendations on evaluation of abnormal uterine bleeding and indications for endometrial biopsies. This article reviews both medical and surgical treatments, including meta-analysis reviews of the most effective treatment options.