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[PMID]: 26175910
[Au] Autor:Bayer P; Comunian A; Höyng D; Mariethoz G
[Ad] Address:Department of Earth Sciences, ETH Zurich , Zurich 8092, Switzerland....
[Ti] Title:High resolution multi-facies realizations of sedimentary reservoir and aquifer analogs.
[So] Source:Sci Data;2:150033, 2015.
[Is] ISSN:2052-4463
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Geological structures are by nature inaccessible to direct observation. This can cause difficulties in applications where a spatially explicit representation of such structures is required, in particular when modelling fluid migration in geological formations. An increasing trend in recent years has been to use analogs to palliate this lack of knowledge, i.e., exploiting the spatial information from sites where the geology is accessible (outcrops, quarry sites) and transferring the observed properties to a study site deemed geologically similar. While this approach is appealing, it is difficult to put in place because of the lack of access to well-documented analog data. In this paper we present comprehensive analog data sets which characterize sedimentary structures from important groundwater hosting formations in Germany and Brazil. Multiple 2-D outcrop faces are described in terms of hydraulic, thermal and chemical properties and interpolated in 3-D using stochastic techniques. These unique data sets can be used by the wider community to implement analog approaches for characterizing reservoir and aquifer formations.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1038/sdata.2015.33

  2 / 5673 MEDLINE  
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[PMID]: 25354129
[Au] Autor:Bartley JK; Kah LC; Frank TD; Lyons TW
[Ad] Address:Geology Department, Gustavus Adolphus College, St. Peter, MN, USA.
[Ti] Title:Deep-water microbialites of the Mesoproterozoic Dismal Lakes Group: microbial growth, lithification, and implications for coniform stromatolites.
[So] Source:Geobiology;13(1):15-32, 2015 Jan.
[Is] ISSN:1472-4669
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Offshore facies of the Mesoproterozoic Sulky Formation, Dismal Lakes Group, arctic Canada, preserve microbialites with unusual morphology. These microbialites grew in water depths greater than several tens of meters and correlate with high-relief conical stromatolites of the more proximal September Lake reef complex. The gross morphology of these microbial facies consists of ridge-like vertical supports draped by concave-upward, subhorizontal elements, resulting in tent-shaped cuspate microbialites with substantial primary void space. Morphological and petrographic analyses suggest a model wherein penecontemporaneous upward growth of ridge elements and development of subhorizontal draping elements initially resulted in a buoyantly supported, unlithified microbial form. Lithification began via precipitation within organic elements during microbialite growth. Mineralization either stabilized or facilitated collapse of initially neutrally buoyant microbialite forms. Microbial structures and breccias were then further stabilized by precipitation of marine herringbone cement. During late-stage diagenesis, remaining void space was occluded by ferroan dolomite cement. Cuspate microbialites are most similar to those found in offshore facies of Neoarchean carbonate platforms and to unlithified, buoyantly supported microbial mats in modern ice-covered Antarctic lakes. We suggest that such unusual microbialite morphologies are a product of the interaction between motile and non-motile communities under nutrient-limiting conditions, followed by early lithification, which served to preserve the resultant microbial form. The presence of marine herringbone cement, commonly associated with high dissolved inorganic carbon (DIC), low O2 conditions, also suggests growth in association with reducing environments at or near the seafloor or in conjunction with a geochemical interface. Predominance of coniform stromatolite forms in the Proterozoic--across a variety of depositional environments--may thus reflect a combination of heterogeneous nutrient distribution, potentially driven by variable redox conditions, and an elevated carbonate saturation state, which permits preservation of these unusual microbialite forms.
[Mh] MeSH terms primary: Cyanobacteria/growth & development
Geologic Sediments/chemistry
Geologic Sediments/microbiology
[Mh] MeSH terms secundary: Fossils
Nunavut
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Em] Entry month:1507
[Js] Journal subset:IM
[Da] Date of entry for processing:141217
[St] Status:MEDLINE
[do] DOI:10.1111/gbi.12114

  3 / 5673 MEDLINE  
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[PMID]: 25074612
[Au] Autor:Kamei K; Ogura M; Miyazaki O; Nosaka S; Ito S
[Ad] Address:Department of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
[Ti] Title:Aneurysmal dilatation associated with arteriovenous fistula in a transplanted kidney after renal biopsies.
[So] Source:Pediatr Transplant;18(7):E216-9, 2014 Nov.
[Is] ISSN:1399-3046
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:AVF is a known complication of renal biopsy in both native and transplanted kidneys. A 20-yr-old woman with bilateral hypoplastic kidneys due to branchio-oto-renal syndrome had received living-donor renal transplantation from her father at the age of 11. She had undergone allograft renal biopsies six times and all puncture sites were at the lower pole of her kidney from the first to the fifth biopsy. AVF with aneurysmal dilation (30 mm) had developed at the puncture site after the fifth biopsy. TAE was successfully performed with 11 platinum coils in the branch of the renal artery feeding the aneurysm. According to a review of the literature, the incidence of AVF is higher in transplanted kidneys than in native kidneys (7.5% vs. 2.1%) because transplanted kidneys, as single kidneys, are likely to be punctured repeatedly at the same site. When renal biopsy of a transplanted kidney is performed, previous biopsy puncture sites should be considered and the biopsy should be performed at a different site, if possible, to prevent the development of AVF.
[Mh] MeSH terms primary: Arteriovenous Fistula/complications
Biopsy, Needle/adverse effects
Dilatation
Kidney Transplantation/adverse effects
Kidney/pathology
Renal Insufficiency/complications
Renal Insufficiency/physiopathology
[Mh] MeSH terms secundary: Branchio-Oto-Renal Syndrome/complications
Branchio-Oto-Renal Syndrome/therapy
Embolization, Therapeutic
Female
Humans
Kidney/physiopathology
Nephrectomy/adverse effects
Renal Artery/pathology
Renal Veins/pathology
Succimer/diagnostic use
Ultrasonography, Doppler
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:DX1U2629QE (Succimer)
[Em] Entry month:1507
[Js] Journal subset:IM
[Da] Date of entry for processing:140925
[St] Status:MEDLINE
[do] DOI:10.1111/petr.12326

  4 / 5673 MEDLINE  
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[PMID]: 26180451
[Au] Autor:Bubna AK; Veeraraghavan M; Anandan S; Rangarajan S
[Ad] Address:Department of Dermatology, Sri Ramachandra University, Porur, Chennai, Tamil Nadu, India....
[Ti] Title:Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association.
[So] Source:Int J Trichology;7(2):67-71, 2015 Apr-Jun.
[Is] ISSN:0974-7753
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Congenital generalized hypertrichosis terminalis is a rare primary hypertrichotic condition, of unknown etiology presenting in the pediatric population. Though benign in nature, there is considerable psychosocial trauma attached to this, owing to the cosmetic disfigurement it produces. The association of gingival fibromatosis and a coarse facies could further worsen the cosmesis. Thus, a multidisciplinary approach involving a psychologist, a dentist apart from the dermatologist would be mandatory. We present this rare syndrome with the purpose of getting a better insight regarding the inheritance, the clinical features and the best available treatment modalities, especially the modern and novel techniques of hair removal that could be utilized to manage such individuals.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Da] Date of entry for processing:150716
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/0974-7753.160113

  5 / 5673 MEDLINE  
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[PMID]: 25894639
[Au] Autor:Lin MH; Numbenjapon N; Germain-Lee EL; Pitukcheewanont P
[Ti] Title:Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
[So] Source:J Pediatr Endocrinol Metab;28(7-8):911-8, 2015 Jul 1.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Progressive osseous heteroplasia (POH) is a condition of invasive heterotopic ossification. Reports of patients with mild POH with Albright hereditary osteodystrophy (AHO), specifically pseudohypoparathyroidism type Ia (PHP Ia) with hormonal resistance, suggest the possibility of a common molecular basis. GNAS has been implicated to account for overlapping features of POH and PHP Ia. Case 1: A 4-year-old boy with obesity, speech delay, and expanding subcutaneous masses on buttock/forearm. Physical exam revealed round facies and brachydactyly. Blood tests showed normal Ca, P, Mg, 25-OH vitamin D levels but elevated parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH). Abdominal computed tomography (CT) showed areas with calcifications in the subcutaneous tissue, fat, and muscle. Pathology of excised tissue revealed ossifications. Genomic study revealed no GNAS mutation. He had POH and PHP Ia. Case 2: A 3-year-old boy with painful ossifications in the left lower extremity. Lab tests were notable for elevated PTH and high-normal TSH. The CT-scan showed subcutaneous/intramuscular calcifications. Genetic testing showed GNAS mutation in exon 12 [c.1024C>T (R342X)]. Patient had POH and PHP Ia. Case 3: A 9-year-old boy with knee pain and subcutaneous ossifications in back and upper/lower extremity, causing significantly limited joint mobility. Lab tests were normal. The CT-scan showed areas corresponding to subcutaneous/intramuscular ossifications throughout torso and extremities, consistent with POH. There was no GNAS mutation. CONCLUSIONS: Patients with heterotopic ossifications present with a wide spectrum of disease. Although GNAS-based mutations have been postulated to account for overlapping features of AHO and POH, normal DNA studies in certain patients with POH/AHO suggest that there may exist other molecular/epigenetic mechanisms explaining their overlapping features.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Js] Journal subset:IM
[St] Status:In-Data-Review

  6 / 5673 MEDLINE  
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[PMID]: 26171318
[Au] Autor:Siminas S; Baillie CT; Turnock R
[Ad] Address:Department of Paediatric Surgery and Urology, Manchester Children's Hospital, Manchester, United Kingdom.
[Ti] Title:Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.
[So] Source:European J Pediatr Surg Rep;3(1):54-8, 2015 Jun.
[Is] ISSN:2194-7619
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Da] Date of entry for processing:150714
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1055/s-0035-1547529

  7 / 5673 MEDLINE  
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[PMID]: 25213662
[Au] Autor:Vijaykumar K; Bindu PS; Taly AB; Mahadevan A; Bharath RD; Gayathri N; Nagappa M; Sinha S
[Ad] Address:Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India....
[Ti] Title:Giant axonal neuropathy.
[So] Source:J Child Neurol;30(7):912-5, 2015 Jun.
[Is] ISSN:1708-8283
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. Evaluation showed frizzy hair, characteristic facies, sensory motor neuropathy, and ataxia. Magnetic resonance imaging (MRI) showed bilateral symmetric white matter signal changes in the cerebellum and periventricular regions along with involvement of the posterior limb of the internal capsule. Sural nerve biopsy demonstrated giant axons with neurofilament accumulation. The clinicopathologic manifestations of giant axonal neuropathy are discussed along with the clinical and histologic differential diagnoses.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1505
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1177/0883073814547721

  8 / 5673 MEDLINE  
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[PMID]: 25655986
[Au] Autor:Giménez-Forcada E; Vega-Alegre M
[Ad] Address:Instituto Geológico y Minero de España - IGME, Unidad de Salamanca, Azafranal 48, 37001 Salamanca, Spain. Electronic address: e.gimenez@igme.es.
[Ti] Title:Arsenic, barium, strontium and uranium geochemistry and their utility as tracers to characterize groundwaters from the Espadán-Calderona Triassic Domain, Spain.
[So] Source:Sci Total Environ;512-513:599-612, 2015 Apr 15.
[Is] ISSN:1879-1026
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:A set of analytical data from the Espadán-Calderona Triassic Domain aquifers was processed using hierarchical agglomerative cluster analysis (HCA) and principal component analysis (PCA), to achieve a quantitative and independent approach to investigate the characteristics of groundwater composition and possible differences between groundwater flows from Triassic aquifers from the Espadán-Calderona Triassic Domain (Spain). Mineralization in the Triassic series has led to the presence of several metals and metalloids in groundwater, including As, Mn, Fe and U. These are associated with fresher bicarbonate groundwaters, characterized by lower Sr/Ba ratios. Levels containing sulfate evaporitic salt, which are interbedded through the Triassic series, seem to exert a strong influence on the chemistry of several groundwaters, characterized by calcium sulfate facies with high Sr concentration and high Sr/Ba ratios. The application of multivariate statistical techniques to the interpretation of analytical results allows the differentiation of groundwater types occurring in the Triassic aquifers and identification of the role of a number of minor or trace elements and their ratios that can be treated as hydrogeochemical tracers. With them it was possible to correlate the different recharge waters with the tectonic morphology of the Espadán-Calderona Triassic Domain.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1507
[Da] Date of entry for processing:150223
[St] Status:PubMed-not-MEDLINE

  9 / 5673 MEDLINE  
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[PMID]: 26155576
[Au] Autor:Kanagotagi S; Sidana S; Rajguru S; Padhye A
[Ad] Address:Senior Lecturer, Department of Periodontics, MGM Dental College and Hospital , Navi Mumbai, India ....
[Ti] Title:Gingival Fibromatosis with Distinctive Facies - A Three Generation Case Report.
[So] Source:J Clin Diagn Res;9(5):ZD05-7, 2015 May.
[Is] ISSN:2249-782X
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by progressive and varying degrees of gingival overgrowth. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized gingival enlargement. It can occur as an isolated disorder but can be one feature of a syndrome. Although the clinical and histopathological characteristics of HGF are well known and described, the pathogenic mechanism remains unknown. The goal of this article is to describe a family with three generations afflicted with a syndromic form of HGF known as gingival fibromatosis with distinctive facies, and discuss the diagnosis and treatment of the disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Cu] Class update date: 150711
[Lr] Last revision date:150711
[Da] Date of entry for processing:150709
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.7860/JCDR/2015/11670.5881

  10 / 5673 MEDLINE  
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[PMID]: 25105779
[Au] Autor:Hoeft F; Dai L; Haas BW; Sheau K; Mimura M; Mills D; Galaburda A; Bellugi U; Korenberg JR; Reiss AL
[Ad] Address:Center for Interdisciplinary Brain Sciences Research (CIBSR), Stanford University School of Medicine, Stanford, CA, United States of America; Department of Neuropsychiatry, Keio University, School of Medicine, Tokyo, Japan....
[Ti] Title:Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
[So] Source:PLoS One;9(8):e104088, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure. This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS. The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.
[Mh] MeSH terms primary: Chromosomes, Human, Pair 7/genetics
Cognition/physiology
Nerve Net/physiology
Psychomotor Performance/physiology
Social Behavior
Williams Syndrome/genetics
Williams Syndrome/physiopathology
[Mh] MeSH terms secundary: Brain/pathology
Chromosomes, Artificial, Bacterial
Cone-Beam Computed Tomography
Humans
In Situ Hybridization, Fluorescence
Neuropsychological Tests
Sequence Deletion/genetics
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Entry month:1504
[Cu] Class update date: 150710
[Lr] Last revision date:150710
[Js] Journal subset:IM
[Da] Date of entry for processing:140809
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0104088


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