Database : MEDLINE
Search on : Facies [Words]
References found : 6818 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 682 go to page                         

  1 / 6818 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 29516774
[Au] Autor:Pacheco MC; Monroe EJ; Horslen SP
[Ad] Address:1 Department of Pathology, University of Washington, Seattle, Washington.
[Ti] Title:Hepatic Adenoma Arising in a Patient With Alagille Syndrome: A Case Report.
[So] Source:Pediatr Dev Pathol;:1093526618762550, 2018 Jan 01.
[Is] ISSN:1093-5266
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Alagille syndrome is associated with decreased bile ducts, cardiac abnormalities, vertebral body fusion defects, and a typical facies. While regenerative nodules and hepatocellular carcinoma have been described in these patients, hepatic adenoma has not. Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma. The clinical, imaging, and histologic features are discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1177/1093526618762550

  2 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29425380
[Au] Autor:Pizza F; Antelmi E; Vandi S; Meletti S; Erro R; Baumann CR; Bhatia KP; Dauvilliers Y; Edwards MJ; Iranzo A; Overeem S; Tinazzi M; Liguori R; Plazzi G
[Ad] Address:Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
[Ti] Title:The Distinguishing Motor Features of Cataplexy: A Study from Video Recorded Attacks.
[So] Source:Sleep;, 2018 Feb 07.
[Is] ISSN:1550-9109
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Objectives: To describe the motor pattern of cataplexy and to determine its phenomenological differences from pseudocataplexy in the differential diagnosis of episodic falls. Methods: We selected 30 video recorded cataplexy and 21 pseudocataplexy attacks in 17 and 10 patients evaluated for suspected narcolepsy and with final diagnosis of narcolepsy type 1 and conversion disorder respectively, together with self-reported attacks features, and asked expert neurologists to blindly evaluate the motor features of the attacks. Video documented and self-reported attacks features of cataplexy and pseudocataplexy were contrasted. Results: Video-recorded cataplexy can be positively differentiated from pseudocataplexy by the occurrence of facial hypotonia (ptosis, mouth opening, tongue protrusion) intermingled by jerks and grimaces abruptly interrupting laughter behavior (i.e. smile, facial expression) and postural control (head drops, trunk fall) under clear emotional trigger. Facial involvement is present in both partial and generalized cataplexy. Conversely, generalized pseudocataplexy is associated with persistence of deep tendon reflexes during the attack. Self-reported features confirmed the important role of positive emotions (laughter, telling a joke) in triggering the attacks, as well as the more frequent occurrence of partial body involvement in cataplexy compared to pseudocataplexy. Conclusions: Cataplexy is characterized by abrupt facial involvement during laughter behavior. Video recording of suspected cataplexy attacks allows the identification of positive clinical signs useful for diagnosis and, possibly in the future, for severity assessment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/sleep/zsy026

  3 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29244146
[Au] Autor:Lui JC; Barnes KM; Dong L; Yue S; Graber E; Rapaport R; Dauber A; Nilsson O; Baron J
[Ad] Address:Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
[Ti] Title:Ezh2 mutations found in the Weaver overgrowth syndrome cause a partial loss of H3K27 histone methyltransferase activity.
[So] Source:J Clin Endocrinol Metab;, 2017 Dec 13.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in EZH2, a histone methyltransferase responsible for H3K27 trimethylation. However, no early truncating mutations have been identified, suggesting that null mutations do not cause Weaver syndrome. Objective: To test alternative hypotheses that EZH2 variants found in Weaver syndrome either cause a gain of function or a partial loss of function. Design: Exome sequencing was performed in a boy with tall stature, advanced bone age, and mild dysmorphic features. Mutant or wild-type EZH2 protein was expressed in mouse growth plate chondrocytes with or without endogenous EZH2, and enzymatic activity was measured. A mouse model was generated, and histone methylation was assessed in heterozygous and homozygous embryos. Results: A de novo missense EZH2 mutation (c.1876G>A (p.Val626Met)) was identified in the proband. When expressed in growth plate chondrocytes, the mutant protein showed decreased histone methyltransferase activity. A mouse model carrying this EZH2 mutation was generated using CRISPR/Cas9. Homozygotes showed perinatal lethality while heterozygotes were viable, fertile, and showed mild overgrowth. Both homozygous and heterozygous embryos showed decreased H3K27 methylation. Conclusion: We generated a mouse model with the same mutation as our patient and found that it recapitulates the Weaver overgrowth phenotype, and demonstrated that EZH2 mutations found in Weaver syndrome cause a partial loss of function.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-01948

  4 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29511874
[Au] Autor:Eang KE; Igarashi T; Fujinaga R; Kondo M; Tabelin CB
[Ad] Address:Laboratory of Groundwater and Mass Transport, Division of Sustainable Resources Engineering, Graduate School of Engineering, Hokkaido University, Sapporo, 060-8628, Japan. khyeam_eang@yahoo.com.
[Ti] Title:Groundwater monitoring of an open-pit limestone quarry: groundwater characteristics, evolution and their connections to rock slopes.
[So] Source:Environ Monit Assess;190(4):193, 2018 Mar 06.
[Is] ISSN:1573-2959
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Groundwater flow and its geochemical evolution in mines are important not only in the study of contaminant migration but also in the effective planning of excavation. The effects of groundwater on the stability of rock slopes and other mine constructions especially in limestone quarries are crucial because calcite, the major mineral component of limestone, is moderately soluble in water. In this study, evolution of groundwater in a limestone quarry located in Chichibu city was monitored to understand the geochemical processes occurring within the rock strata of the quarry and changes in the chemistry of groundwater, which suggests zones of deformations that may affect the stability of rock slopes. There are three distinct geological formations in the quarry: limestone layer, interbedded layer of limestone and slaty greenstone, and slaty greenstone layer as basement rock. Although the hydrochemical facies of all groundwater samples were Ca-HCO type water, changes in the geochemical properties of groundwater from the three geological formations were observed. In particular, significant changes in the chemical properties of several groundwater samples along the interbedded layer were observed, which could be attributed to the mixing of groundwater from the limestone and slaty greenstone layers. On the rainy day, the concentrations of Ca and HCO in the groundwater fluctuated notably, and the groundwater flowing along the interbedded layer was dominated by groundwater from the limestone layer. These suggest that groundwater along the interbedded layer may affect the stability of rock slopes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.1007/s10661-018-6561-2

  5 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29511204
[Au] Autor:Meckel TA; Trevisan L; Krishnamurthy PG
[Ad] Address:Bureau of Economic Geology, Jackson School of Geosciences, The University of Texas at Austin, Austin, TX, USA. tip.meckel@beg.utexas.edu.
[Ti] Title:Author Correction: A method to generate small-scale, high-resolution sedimentary bedform architecture models representing realistic geologic facies.
[So] Source:Sci Rep;8(1):4209, 2018 Mar 06.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
[Pt] Publication type:PUBLISHED ERRATUM
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-21903-y

  6 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29277338
[Au] Autor:Aguiar-Oliveira MH; Davalos C; Campos VC; Oliveira Neto LA; Marinho CG; Oliveira CRP
[Ad] Address:Division of Endocrinology, Department of Medicine, Federal University of Sergipe, 49060-100, Aracaju, Sergipe, Brazil. Electronic address: herminio@infonet.com.br.
[Ti] Title:Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor.
[So] Source:Growth Horm IGF Res;38:14-18, 2018 02.
[Is] ISSN:1532-2238
[Cp] Country of publication:Scotland
[La] Language:eng
[Ab] Abstract:Several acquired or congenital hypothalamic abnormalities may cause growth failure (GF). We described two of these congenital abnormalities. First, a case of CHARGE syndrome, an epigenetic disorder mostly caused by heterozygous mutations in the gene encoding CHD7, a chromatin remodeling protein, causing several malformations, some life-threatening, with additional secondary hypothalamus-hypophyseal dysfunction, including GF. Second, a cohort of individuals with genetic isolated severe GH deficiency (IGHD), due to a homozygous mutation in the GH-releasing hormone (GHRH) receptor gene described in Itabaianinha County, in northeast Brazil. In this IGHD, with marked reduction of serum concentrations of IGF-I, and an up regulation of IGF-II, GF is the principal finding in otherwise normal subjects, with normal quality of life and longevity. This IGHD may unveil the effects of GHRH, pituitary GH and IGF-I, IGF-II and local GH and growth factor on the size and function of body and several systems. For instance, anterior pituitary hypoplasia, and impairment of the non-REM sleep may be due to GHRH resistance. Proportionate short stature, doll facies, high-pitched pre-pubertal voice, and reduced muscle mass reflect the lack of the synergistic effect of pituitary GH and IGF-I in bones and muscles. Central adiposity may be due to a direct effect of the lack of GH. Brain, eyes and immune system may also involve IGF-II and local GH or growth factors. A concept of physiological hierarchy controlling body size and function by each component of the GH system may be drawn from this model.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process

  7 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29505930
[Au] Autor:Mushtaq N; Younas A; Mashiatullah A; Javed T; Ahmad A; Farooqi A
[Ad] Address:Environmental Geochemistry Laboratory, Faculty of Biological Sciences, Department of Environmental Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
[Ti] Title:Hydrogeochemical and isotopic evaluation of groundwater with elevated arsenic in alkaline aquifers in Eastern Punjab, Pakistan.
[So] Source:Chemosphere;200:576-586, 2018 Feb 26.
[Is] ISSN:1879-1298
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Geochemical investigation was carried out for delineating factors responsible for the mobilization of arsenic (As) from aquifer material into the groundwater. Four sites along Ravi River, (Samada, Sarai Chimba, Kot Maiga and Chah Fatehwala), were selected based on the blanket survey. Groundwater-rock interaction and evaporation were the key phenomena controlling groundwater chemistry, as shown by the hydrogeochemical data. Groundwater was predominantly Na-Cl type, with other principle facies being Na-HCO , Na-Ca-HCO and Ca-Mg-Cl. The groundwater As concentration ranged between below detection level (2 µg/L) to 548 µg/L with 59% samples exceeding the World Health Organization (WHO) guidelines for As in drinking water (10 µg/L) and 31% having higher concentrations than the National Environmental Quality Standard (NEQS, 50 µg/L). Moderate to high concentrations of SO averaged at 244 mg/L and moderate NO concentrations averaged at 8 mg/L, together with alkaline pH (7.3-8.8) and high Eh values (113-402 mV) suggest partial oxidizing nature of the aquifers. The values for δ O and δ H in groundwater varied between -9.14 and -5.51‰, and -56.57 to -39.5‰ respectively, and suggests meteoric origin of the groundwater with some evaporative loss. This effect could be partly responsible for elevated levels of pH and salinity in groundwater. Based on geochemical and isotopic composition of groundwater, desorption of As from metal surfaces under alkaline environment might be the factor causing As enrichment in study area.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher

  8 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29497944
[Au] Autor:Agoubi B
[Ad] Address:Higher Institute of Water Sciences and Techniques, University of Gabes, Gabes, Tunisia. Belgacem.Agoubi@isstegb.rnu.tn.
[Ti] Title:Assessing hydrothermal groundwater flow path using Kohonen's SOM, geochemical data, and groundwater temperature cooling trend.
[So] Source:Environ Sci Pollut Res Int;, 2018 Mar 01.
[Is] ISSN:1614-7499
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Assessing groundwater flow path in a thermal aquifer, such as El Hamma aquifer, southeastern Tunisia, and its lateral communication with the adjacent Jeffara-Gabes aquifers, is a very complex operation which requires the integration of several approaches to understand and explain the reality of phenomenon. In this study, geochemical and isotopic data, Kohonen self-organizing map, temperature cooling trend, and kriging techniques were used to assess groundwater flow path in hydrothermal aquifer of El Hamma-Gabes, Tunisia. For this objective, 32 sampled wells are analyzed for major ions, electric conductivity, pH, total dissolved solids, and stables isotopes (δ H and δ O). Geochemical diagrams reveal that groundwater chemistry was controlled by evaporation, and rock-water interaction with a dominant water facies was Cl·SO -Na·Ca-Mg. Kriging techniques were used to highlight groundwater flow path. Kohonen self-organizing map shows that the waters are clustered into three classes according to chemical and isotopic composition. These clusters represent a hydrothermal groundwater class from the Continental Intercalaire aquifer, a shallow groundwater class corresponding to Jeffara-Gabes aquifer and mixed water class. Groundwater cooling trend and stable isotopes indicate that groundwater flow is toward west to east part of study area, indicating a recharge of Jeffara aquifer from El Hamma thermal aquifer.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1007/s11356-018-1525-1

  9 / 6818 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29486293
[Au] Autor:Manley PN; Abu-Abed S; Kirsch R; Hawrysh A; Perrier N; Feilotter H; Pollett A; Riddell R; Hookey L; Walia JS
[Ad] Address:Department of Pathology and Molecular Medicine, Queens University and Kingston General Hospital, Kingston, Ontario, K7L3N6, Canada. Electronic address: manleyp@queensu.ca.
[Ti] Title:Familial PDGFRA mutation- syndrome: somatic and gastrointestinal phenotype.
[So] Source:Hum Pathol;, 2018 Feb 24.
[Is] ISSN:1532-8392
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Germline activating platelet derived growth factor receptor alpha (PDGFRA) mutations have been described in four families. All the index patients have presented with multiple mesenchymal tumors of the gastrointestinal tract. We identified a fifth family with four first-degree relatives that harbor a PDGFRA exon 18 (D846V) germline mutation. The affected kindred have a unique phenotype including coarse facies and skin, broad hands and feet, and previously undescribed premature tooth loss. While the index patient presented with multiple small bowel inflammatory fibroid polyps (IFPs) and has a gastric gastrointestinal stromal tumor (GIST), no tumors have yet been identified in other family members. We describe the pathology, genetics and the incomplete penetrance and variable expressivity of the familial PDGFRA-mutation syndrome referencing the mouse knock-in Pdgfra model. We speculate on the role of the telocyte, a recently described CD34, PDGFRA+ stromal cell, in the development of inflammatory fibroid polyps and the somatic phenotype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:Publisher

  10 / 6818 MEDLINE  
              first record previous record
select
to print
Photocopy

[PMID]: 29485259
[Au] Autor:Puvabanditsin S; February M; Stefano VD; Vinod S; Minerowicz C; Hussein K; Mayne J; Mehta R
[Ti] Title:Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review.
[So] Source:Genet Couns;27(2):149-57, 2016.
[Is] ISSN:1015-8146
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process


page 1 of 682 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information