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[PMID]: 26002754
[Au] Autor:Järvinen A; Ng R; Crivelli D; Arnold AJ; Woo-VonHoogenstyn N; Bellugi U
[Ad] Address:Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, CA, USA. Electronic address: pasley@salk.edu....
[Ti] Title:Relations between social-perceptual ability in multi- and unisensory contexts, autonomic reactivity, and social functioning in individuals with Williams syndrome.
[So] Source:Neuropsychologia;73:127-40, 2015 Jul.
[Is] ISSN:1873-3514
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Compromised social-perceptual ability has been proposed to contribute to social dysfunction in neurodevelopmental disorders. While such impairments have been identified in Williams syndrome (WS), little is known about emotion processing in auditory and multisensory contexts. Employing a multidimensional approach, individuals with WS and typical development (TD) were tested for emotion identification across fearful, happy, and angry multisensory and unisensory face and voice stimuli. Autonomic responses were monitored in response to unimodal emotion. The WS group was administered an inventory of social functioning. Behaviorally, individuals with WS relative to TD demonstrated impaired processing of unimodal vocalizations and emotionally incongruent audiovisual compounds, reflecting a generalized deficit in social-auditory processing in WS. The TD group outperformed their counterparts with WS in identifying negative (fearful and angry) emotion, with similar between-group performance with happy stimuli. Mirroring this pattern, electrodermal activity (EDA) responses to the emotional content of the stimuli indicated that whereas those with WS showed the highest arousal to happy, and lowest arousal to fearful stimuli, the TD participants demonstrated the contrasting pattern. In WS, more normal social functioning was related to higher autonomic arousal to facial expressions. Implications for underlying neural architecture and emotional functions are discussed.
[Mh] MeSH terms primary: Emotions
Facial Recognition
Recognition (Psychology)
Social Perception
Speech Perception
Williams Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adult
Electrocardiography
Emotions/physiology
Facial Recognition/physiology
Female
Galvanic Skin Response
Humans
Male
Middle Aged
Psychological Tests
Recognition (Psychology)/physiology
Speech Perception/physiology
Williams Syndrome/physiopathology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1604
[Cu] Class update date: 160701
[Lr] Last revision date:160701
[Js] Journal subset:IM
[Da] Date of entry for processing:150615
[St] Status:MEDLINE

  2 / 6114 MEDLINE  
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[PMID]: 27359000
[Au] Autor:Kavurmaci M; Üstün AK
[Ti] Title:Assessment of groundwater quality using DEA and AHP: a case study in the Sereflikochisar region in Turkey.
[So] Source:Environ Monit Assess;188(4):258, 2016 Apr.
[Is] ISSN:1573-2959
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:This study investigated the spatial distribution of groundwater quality in Sereflikochisar Basin, in the Central Anatolian region of Turkey using different hydrochemical, statistical, and geostatistical methods. A total of 51 groundwater samples were collected from the observation wells in the study area to evaluate the characteristics of the groundwater quality. As a relatively simple and practical method, a groundwater quality index (GWQI) was developed to evaluate the overall groundwater quality. In this process, complex decision-making techniques such as analytic hierarchy process (AHP) and data envelopment analysis (DEA) were used. Based on these models, two new indices (A-GWQI and D-GWQI) were proposed. According to the D-GWQI score (from 0.6 to 1), water quality was classified in four categories as unsuitable (0.6­0.7), permissible (0.7­0.8), good (0.8­0.9), and excellent (0.9­1). The spatial distribution maps of the groundwater quality were created using the Kriging method. For each map, seven different semivariogram models were tested and the best-fitted model was chosen based on their root mean square standardized error. These maps showed that the areas with high groundwater quality were in the eastern and southern parts of the study area where the D-GWQI scores were greater than 0.8. Depending on the distance from the Salt Lake, the characteristics of groundwater changed from NaCl to NaHCO3 and CaHCO3 facies. This study shows how to determine the spatial distribution of the groundwater quality and identify the impact of salt lakes on the groundwater quality in inland aquifers. The findings of this study can be applied to ensure the quality of groundwater used for drinking and irrigation purposes in the study area.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1606
[Js] Journal subset:IM
[St] Status:In-Process

  3 / 6114 MEDLINE  
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[PMID]: 27000318
[Au] Autor:Amiri V; Nakhaei M; Lak R; Kholghi M
[Ad] Address:Department of Applied Geology, Faculty of Earth Sciences, Kharazmi University, P.O. Box: 31979-37551, Tehran, Iran. vahab.amiri@gmail.com....
[Ti] Title:Investigating the salinization and freshening processes of coastal groundwater resources in Urmia aquifer, NW Iran.
[So] Source:Environ Monit Assess;188(4):233, 2016 Apr.
[Is] ISSN:1573-2959
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:This paper presents the results of an assessment about interaction between Urmia Lake (UL) and coastal groundwater in the Urmia aquifer (UA). This aquifer is the most significant contributor to the freshwater supply of the coastal areas. The use of hydrochemical facies can be very useful to identify the saltwater encroachment or freshening phases in the coastal aquifers. In this study, the analysis of salinization/freshening processes was carried out through the saturation index (SI), ionic deltas (Δ), binary diagrams, and hydrochemical facies evolution (HFE) diagram. Based on the Gibbs plot, the behavior of the major ions showed that the changes in the chemical composition of the groundwater are mainly controlled by the water-soil/rock interaction zone and few samples are relatively controlled by evaporation. A possible explanation for this phenomenon is that the deposited chloride and sulfate particles can form the minor salinity source in some coastal areas when washed down by precipitation. The SI calculations showed that all groundwater samples, collected in these periods, show negative saturation indices, which indicate undersaturation with respect to anhydrite, gypsum, and halite. In addition, except in a few cases, all other samples showed the undersaturation with respect to the carbonate minerals such as aragonite, calcite, and dolomite. Therefore, these minerals are susceptible to dissolution. In the dry season, the SI calculations showed more positive values with respect to dolomite, especially in the northern part of UA, which indicated a higher potential for precipitation and deposition of dolomite. The percentage of saltwater in the groundwater samples of Urmia plain was very low, ranging between 0.001 and 0.79 % in the wet season and 0.0004 and 0.81 % in the dry season. The results of HFE diagram, which was taken to find whether the aquifer was in the saltwater encroachment phase or in the freshening phase, indicated that except for a few wells near the coast, there is very little hydraulic interaction between UA and UL. In this coastal area, most of the samples that were collected repeatedly in both wet and dry seasons showed the same hydrochemical facies, which suggested that the seasonal groundwater fluctuations cannot significantly change the chemical composition of groundwater.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1603
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1007/s10661-016-5231-5

  4 / 6114 MEDLINE  
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[PMID]: 26637345
[Au] Autor:Adisen E; Erduran FB; Ezgü FS; Kasapkara ÇS; Besio R; Forlino A; Gürer MA
[Ad] Address:Gazi University, Ankara, Turkey....
[Ti] Title:A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency.
[So] Source:Int J Low Extrem Wounds;15(1):86-91, 2016 Mar.
[Is] ISSN:1552-6941
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections. This study describes 4 patients with recurrent leg ulcerations and abnormal facies who were first clinically suspected of prolidase deficiency and then biochemically confirmed. Two siblings and 2 other patients were admitted to our clinic at different times, and they had some common features such as chronic leg and foot ulcers recalcitrant to treatment, consanguineous parents, facial dysmorphism, mental retardation, and widespread telangiectasias. Physical examination and detection of low prolidase level in blood finally led us to the diagnose of ulcers secondary to prolidase deficiency. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of recurrent leg and foot ulcers that develop at an early age.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1603
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1177/1534734615619550

  5 / 6114 MEDLINE  
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[PMID]: 26739251
[Au] Autor:Amberg CE; Collart T; Salenbien W; Egger LM; Munnecke A; Nielsen AT; Monnet C; Hammer Ø; Vandenbroucke TR
[Ad] Address:UMR 8198 du CNRS: Evo-Eco-Paleo, Université de Lille - Sciences et Technologies, Avenue Paul Langevin, SN5, 59655 Villeneuve d'Ascq, France....
[Ti] Title:The nature of Ordovician limestone-marl alternations in the Oslo-Asker District (Norway): witnesses of primary glacio-eustasy or diagenetic rhythms?
[So] Source:Sci Rep;6:18787, 2016.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Ordovician limestone-marl alternations in the Oslo-Asker District have been interpreted as signaling glacio-eustatic lowstands, which would support a prolonged "Early Palaeozoic Icehouse". However, these rhythmites could alternatively reflect differential diagenesis, without sedimentary trigger. Here, we test both hypotheses through one Darriwilian and three Katian sections. Our methodology consists of a bed-by-bed analysis of palynological (chitinozoan) and geochemical (XRF) data, to evaluate whether the limestone/marl couplets reflect an original cyclic signal. The results reveal similar palynomorph assemblages in limestones and marls. Exceptions, which could be interpreted as reflecting palaeoclimatological fluctuations, exist at the species level: Ancyrochitina bornholmensis seems to be more abundant in the marl samples from the lower Frognerkilen Formation on Nakkholmen Island. However, these rare cases where chitinozoans differ between limestone/marl facies are deemed insufficient for the identification of original cyclicity. The geochemical data show a near-perfect correlation between insoluble elements in the limestone and the marls, which indicates a similar composition of the potential precursor sediment, also in the Frognerkilen Formation. This is consistent with the palynological data. Although an original cyclic pattern could still be recorded by other, uninvestigated parameters, our palaeontological and geochemical data combined do not support the presence of such a signal.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1606
[Cu] Class update date: 160120
[Lr] Last revision date:160120
[Da] Date of entry for processing:160107
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1038/srep18787

  6 / 6114 MEDLINE  
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[PMID]: 27209840
[Au] Autor:Botnaru V; Rusu D; Munteanu O
[Ti] Title:Williams-Beuren syndrome--a rare cause of recurrent hemoptysis.
[So] Source:Pneumologia;65(1):39-44, 2016 Jan-Mar.
[Is] ISSN:2067-2993
[Cp] Country of publication:Romania
[La] Language:eng
[Ab] Abstract:Williams-Beuren syndrome (WBS) is a rare genetic disease with a distinctive constellation of clinical findings. The disease can be diagnosed clinically by a recognizable pattern of malformations, including cardiovascular malformations, a characteristic facial dysmorphism, as well as neurological and cognitive features. We present the case of a 23-years-old woman repeatedly admitted to Pulmonology Clinic for massive hemoptysis. Diagnosis of Williams-Beuren syndrome was revealed by clinical findings and confirmed by CT-angiography data of cardiovascular malformations and fluorescence in situ hybridization (FISH) genetic test. WBS is a multisystem disorder and usually is recognized by clinician. If clinical impression is not clearly consistent with WBS, FISH remains the most widely used test.
[Mh] MeSH terms primary: Abnormalities, Multiple
Elastin/genetics
Hemoptysis/genetics
Lim Kinases/genetics
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/genetics
Adult
Angiography/methods
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/genetics
Biomarkers/blood
Chromosome Deletion
Face/abnormalities
Female
Heart Septal Defects, Atrial/genetics
Humans
Hypertension, Pulmonary/genetics
Intellectual Disability/genetics
Rare Diseases
Recurrence
Williams Syndrome/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers); 9007-58-3 (Elastin); EC 2.7.11.1 (Lim Kinases)
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:160523
[St] Status:MEDLINE

  7 / 6114 MEDLINE  
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[PMID]: 26384008
[Au] Autor:Takeuchi D; Furutani M; Harada Y; Furutani Y; Inai K; Nakanishi T; Matsuoka R
[Ad] Address:Department of Pediatric Cardiology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan. ptakeuci@hij.twmu.ac.jp....
[Ti] Title:High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome.
[So] Source:BMC Pediatr;15:126, 2015.
[Is] ISSN:1471-2431
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: A high incidence of cardiovascular (CV) risk factors has been reported in adults with Williams-Beuren syndrome (WS). However, the prevalence of these factors in children and adolescents with WS is unknown. Therefore, the purpose of this study was to evaluate the prevalence of CV risk factors in these patients. METHODS: Thirty-two WS patients aged <18 years were enrolled in the study. Oxidized low-density lipoprotein levels (n = 32), oral glucose tolerance test results (n = 20), plasma renin and aldosterone levels (n = 31), 24-h ambulatory blood pressure (ABP; n = 24), carotid artery intima-media thickness (IMT; n = 15), and brachial artery flow-mediated dilatation (FMD; n = 15) were measured and analyzed. RESULTS: The lipid profile revealed hypercholesterolemia in 22% and elevated oxidized low-density lipoprotein levels in 94% of the patients. Glucose metabolism abnormalities were found in 70% of the patients. Insulin resistance was observed in 40% of the patients. High plasma renin and aldosterone levels were detected in 45 and 39% of the patients, respectively. A mean systolic blood pressure above the 90th percentile was noted in 29% of patients. High IMT (>0.65 mm) and low FMD (<9%) were detected in 80 and 73% of patients, respectively. CONCLUSION: In patients with WS, CV risk factors are frequently present from childhood. In children with WS, screening tests for the early detection of CV risk factors and long-term follow-up are required to determine whether long-term exposure to these factors increases the risk for CV events in adulthood.
[Mh] MeSH terms primary: Cardiovascular Diseases/epidemiology
Williams Syndrome/complications
[Mh] MeSH terms secundary: Adolescent
Aldosterone/blood
Blood Pressure/physiology
Blood Pressure Monitoring, Ambulatory
Cardiovascular Diseases/blood
Cardiovascular Diseases/etiology
Carotid Intima-Media Thickness
Child
Child, Preschool
Elastin/blood
Female
Humans
Infant
Japan/epidemiology
Lipoproteins, LDL/blood
Male
Prevalence
Risk Factors
Williams Syndrome/physiopathology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Lipoproteins, LDL); 4964P6T9RB (Aldosterone); 9007-58-3 (Elastin)
[Em] Entry month:1606
[Cu] Class update date: 150921
[Lr] Last revision date:150921
[Js] Journal subset:IM
[Da] Date of entry for processing:150919
[St] Status:MEDLINE
[do] DOI:10.1186/s12887-015-0445-1

  8 / 6114 MEDLINE  
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[PMID]: 26272726
[Au] Autor:Oh CW; Ivan D; Curry JL; Ellis R; Gerber H; Duvic M; Torres-Cabala C
[Ad] Address:Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA....
[Ti] Title:A case of indeterminate dendritic cell tumor presenting with leonine facies.
[So] Source:J Cutan Pathol;43(2):158-63, 2016 Feb.
[Is] ISSN:1600-0560
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Indeterminate dendritic cell tumor is an extremely rare neoplastic proliferation of dendritic cells that share immunophenotypic features of Langerhans cells and macrophages but lack Birbeck granules and Langerin expression. METHODS: We report a 55-year-old female presenting with a leonine facies and generalized multiple confluent papules, nodules and plaques on neck, upper trunk, arms and thighs. Laboratory evaluations were performed including skin biopsies, peripheral blood flow cytometry and positron emission tomography-computed tomography. RESULTS: The lesional skin biopsy showed a dense dermal and perifollicular infiltrate composed of histiocytoid cells with nuclear grooves lacking dendritic processes in a background of lymphocytes. Eosinophils were absent. The histiocytoid cells were CD68+CD1a+Langerin- and only focally S100+. Special stains including GMS, Gram and Fite were all negative for infectious organisms. Although an initial diagnosis suggesting Langerhans cell histiocytosis was proposed due to CD1a positivity, a diagnosis of indeterminate dendritic cell tumor was finally rendered based on the histopathological findings and the lack of expression of Langerin. CONCLUSION: This case illustrates the variegated clinical presentation of indeterminate cell tumor and the necessity of appropriate immunohistochemical workup for its diagnosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1602
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1111/cup.12611

  9 / 6114 MEDLINE  
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[PMID]: 26727132
[Au] Autor:Richter N; Tiddeman B; Haun DB
[Ad] Address:Research Group for Comparative Cognitive Anthropology, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany....
[Ti] Title:Social Preference in Preschoolers: Effects of Morphological Self-Similarity and Familiarity.
[So] Source:PLoS One;11(1):e0145443, 2016.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Adults prefer to interact with others that are similar to themselves. Even slight facial self-resemblance can elicit trust towards strangers. Here we investigate if preschoolers at the age of 5 years already use facial self-resemblance when they make social judgments about others. We found that, in the absence of any additional knowledge about prospective peers, children preferred those who look subtly like themselves over complete strangers. Thus, subtle morphological similarities trigger social preferences well before adulthood.
[Mh] MeSH terms primary: Social Behavior
[Mh] MeSH terms secundary: Child, Preschool
Facies
Humans
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1606
[Cu] Class update date: 160116
[Lr] Last revision date:160116
[Js] Journal subset:IM
[Da] Date of entry for processing:160105
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0145443

  10 / 6114 MEDLINE  
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[PMID]: 26615381
[Au] Autor:Najafi Sani M; Ahmadi M; Roohani P; Rezaei N
[Ad] Address:Department of Pediatric Gastroenterology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran....
[Ti] Title:Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.
[So] Source:Acta Med Iran;53(10):656-8, 2015 Oct.
[Is] ISSN:1735-9694
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe hypotonia, and abnormal facies. An increased concentration of very long chain fatty acid in lipid profile was detected. ZS should be considered in the list of differential diagnosis in infants with stereotypical phenotype, neurodevelopmental delay, and severe hypotonia in association with liver and other organs involvement.
[Mh] MeSH terms primary: Liver Diseases/etiology
Zellweger Syndrome/physiopathology
[Mh] MeSH terms secundary: Diagnosis, Differential
Female
Humans
Infant
Lipids/chemistry
Liver Diseases/pathology
Phenotype
Zellweger Syndrome/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Lipids)
[Em] Entry month:1606
[Js] Journal subset:IM
[Da] Date of entry for processing:151130
[St] Status:MEDLINE


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