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[PMID]: 25762504
[Au] Autor:Löhr SC; Kennedy MJ
[Ad] Address:Sprigg Geobiology Centre, Department of Earth Sciences, University of Adelaide, North Terrace, Adelaide, South Australia 5005, Australia.
[Ti] Title:Micro-trace fossils reveal pervasive reworking of Pliocene sapropels by low-oxygen-adapted benthic meiofauna.
[So] Source:Nat Commun;6:6589, 2015.
[Is] ISSN:2041-1723
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Animal burrowers leave an indelible signature on the sedimentary record in most marine environments, with the seeming exception of low-oxygen environments. In modern sedimentary settings, however, sub-millimetre-sized benthic animals (meiofauna) are adapted to low oxygen and even sulfidic conditions. Almost nothing is known about their impact on ancient marine sediments because they leave few recognizable traces. Here we show, in classic Pliocene-aged anoxic facies from the Mediterranean, the first reported trace fossil evidence of meiofaunal activity and its relation to changing oxygenation. A novel approach utilizing electron imaging of ion-polished samples shows that meiofauna pervasively reworked sediment under oxygen-depleted conditions that excluded macrofauna, fragmenting organic laminae and emplacing 15- to 70-µm-diameter faecal pellets without macroscopically influencing the fabric. The extent of reworking raises the question: how pervasively altered are other sediments presently assumed to lack animal influence and how far into the geological record does this influence extend?
[Mh] MeSH terms primary: Benzopyrans/chemistry
Fossils
Geologic Sediments/chemistry
Oxygen/chemistry
[Mh] MeSH terms secundary: Carbon/chemistry
Electrons
Geology
Humic Substances
Ions
Mediterranean Region
Microscopy, Electron, Scanning
Paleontology
Scattering, Radiation
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Benzopyrans); 0 (Humic Substances); 0 (Ions); 64083-34-7 (sapropel); 7440-44-0 (Carbon); S88TT14065 (Oxygen)
[Em] Entry month:1508
[Js] Journal subset:IM
[Da] Date of entry for processing:150312
[St] Status:MEDLINE
[do] DOI:10.1038/ncomms7589

  2 / 5704 MEDLINE  
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[PMID]: 26161466
[Au] Autor:Fu TJ; Lincoln AJ; Bellugi U; Searcy YM
[Ti] Title:The Association of Intelligence, Visual-Motor Functioning, and Personality Characteristics With Adaptive Behavior in Individuals With Williams Syndrome.
[So] Source:Am J Intellect Dev Disabil;120(4):273-88, 2015 Jul.
[Is] ISSN:1944-7515
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Williams syndrome (WS) is associated with deficits in adaptive behavior and an uneven adaptive profile. This study investigated the association of intelligence, visual-motor functioning, and personality characteristics with the adaptive behavior in individuals with WS. One hundred individuals with WS and 25 individuals with developmental disabilities of other etiologies were included in this study. This study found that IQ and visual-motor functioning significantly predicted adaptive behavior in individuals of WS. Visual-motor functioning especially predicted the most amount of unique variance in overall adaptive behavior and contributed to the variance above and beyond that of IQ. Present study highlights the need for interventions that address visual-motor and motor functioning in individuals with WS.
[Mh] MeSH terms primary: Adaptation, Psychological/physiology
Intelligence/physiology
Personality/physiology
Psychomotor Performance/physiology
Williams Syndrome/physiopathology
Williams Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adult
Analysis of Variance
Child
Female
Humans
Male
Middle Aged
Motor Skills
Neuropsychological Tests
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1508
[Js] Journal subset:IM
[Da] Date of entry for processing:150711
[St] Status:MEDLINE
[do] DOI:10.1352/1944-7558-120.4.273

  3 / 5704 MEDLINE  
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[PMID]: 26075723
[Au] Autor:Andrianavalona TH; Ramihangihajason TN; Rasoamiaramanana A; Ward DJ; Ali JR; Samonds KE
[Ad] Address:Département de Paléontologie et d'Anthropologie Biologique, Faculté des Sciences, Université d'Antananarivo 101, Antananarivo, Madagascar....
[Ti] Title:Miocene Shark and Batoid Fauna from Nosy Makamby (Mahajanga Basin, Northwestern Madagascar).
[So] Source:PLoS One;10(6):e0129444, 2015.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Madagascar is well known for producing exceptional fossils. However, the record for selachians remains relatively poorly known. Paleontological reconnaissance on the island of Nosy Makamby, off northwest Madagascar, has produced a previously undescribed assemblage of Miocene fossils. Based on isolated teeth, ten taxonomic groups are identified: Otodus, Carcharhinus, Galeocerdo, Rhizoprionodon, Sphyrna, Hemipristis, Squatina, Rostroraja, Himantura and Myliobatidae. Six are newly described from Madagascar for the Cenozoic (Galeocerdo, Rhizoprionodon, Sphyrna, Squatina, Rostroraja and Himantura). In association with these specimens, remains of both invertebrates (e.g., corals, gastropods, bivalves) and vertebrates (e.g., bony fish, turtles, crocodylians, and sirenian mammals) were also recovered. The sedimentary facies are highly suggestive of a near-shore/coastal plain depositional environment. This faunal association shares similarities to contemporaneous sites reported from North America and Europe and gives a glimpse into the paleoenvironment of Madagascar's Miocene, suggesting that this region was warm, tropical shallow-water marine.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1506
[Cu] Class update date: 150627
[Lr] Last revision date:150627
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1371/journal.pone.0129444

  4 / 5704 MEDLINE  
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[PMID]: 25742478
[Au] Autor:Kratz CP; Franke L; Peters H; Kohlschmidt N; Kazmierczak B; Finckh U; Bier A; Eichhorn B; Blank C; Kraus C; Kohlhase J; Pauli S; Wildhardt G; Kutsche K; Auber B; Christmann A; Bachmann N; Mitter D; Cremer FW; Mayer K; Daumer-Haas C; Nevinny-Stickel-Hinzpeter C; Oeffner F; Schlüter G; Gencik M; Überlacker B; Lissewski C; Schanze I; Greene MH; Spix C; Zenker M
[Ad] Address:Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Carl-Neuberg-Str. 1, Hannover 30625, Germany....
[Ti] Title:Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
[So] Source:Br J Cancer;112(8):1392-7, 2015 Apr 14.
[Is] ISSN:1532-1827
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These 'RASopathies' also represent cancer-prone syndromes, but the quantitative cancer risks remain unknown. METHODS: We investigated the occurrence of childhood cancer including benign and malignant tumours of the central nervous system in a group of 735 individuals with germline mutations in Ras signalling pathway genes by matching their information with the German Childhood Cancer Registry. RESULTS: We observed 12 cases of cancer in the entire RASopathy cohort vs 1.12 expected (based on German population-based incidence rates). This corresponds to a 10.5-fold increased risk of all childhood cancers combined (standardised incidence ratio (SIR)=10.5, 95% confidence interval=5.4-18.3). The specific cancers included juvenile myelomonocytic leukaemia=4; brain tumour=3; acute lymphoblastic leukaemia=2; rhabdomyosarcoma=2; and neuroblastoma=1. The childhood cancer SIR in Noonan syndrome patients was 8.1, whereas that for Costello syndrome patients was 42.4. CONCLUSIONS: These data comprise the first quantitative evidence documenting that the germline mutations in Ras signalling pathway genes are associated with increased risks of both childhood leukaemia and solid tumours.
[Mh] MeSH terms primary: Costello Syndrome/genetics
Ectodermal Dysplasia/genetics
Failure to Thrive/genetics
Heart Defects, Congenital/genetics
Neoplasms/epidemiology
Noonan Syndrome/genetics
ras Proteins/genetics
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Costello Syndrome/pathology
Ectodermal Dysplasia/pathology
Facies
Failure to Thrive/pathology
Female
Germ-Line Mutation
Germany/epidemiology
Heart Defects, Congenital/pathology
Humans
Infant
Male
Neoplasms/etiology
Neoplasms/pathology
Noonan Syndrome/pathology
Registries
Risk Factors
Signal Transduction
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:EC 3.6.5.2 (ras Proteins)
[Em] Entry month:1506
[Cu] Class update date: 150813
[Lr] Last revision date:150813
[Js] Journal subset:IM
[Da] Date of entry for processing:150415
[St] Status:MEDLINE
[do] DOI:10.1038/bjc.2015.75

  5 / 5704 MEDLINE  
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[PMID]: 25697434
[Au] Autor:Cruz-Perea M; Luna D; Ramírez-Cheyne J; Saldarriaga Gil W; Isaza C
[Ti] Title:Ellis van Creveld: reporte de caso. [Ellis van Creveld. Case report].
[So] Source:Rev Chil Pediatr;85(5):578-83, 2014 Oct.
[Is] ISSN:0717-6228
[Cp] Country of publication:Chile
[La] Language:spa
[Ab] Abstract:INTRODUCTION: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. OBJECTIVE: To describe a patient diagnosed with EVC syndrome. CASE REPORT: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. CONCLUSIONS: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1502
[Js] Journal subset:IM
[St] Status:In-Process

  6 / 5704 MEDLINE  
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[PMID]: 24892279
[Au] Autor:Stewart DR; Pemov A; Johnston JJ; Sapp JC; Yeager M; He J; Boland JF; Burdett L; Brown C; Gatti RA; Alter BP; Biesecker LG; Savage SA
[Ad] Address:Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, United States of America....
[Ti] Title:Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
[So] Source:PLoS One;9(6):e98686, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized and performed exome sequencing and high-density array SNP genotyping on three individuals with Dubowitz syndrome, including a pair of previously-described siblings (Patients 1 and 2, brother and sister) and an unpublished patient (Patient 3). Given the siblings' history of bone marrow abnormalities, we also evaluated telomere length and performed radiosensitivity assays. In the siblings, exome sequencing identified compound heterozygosity for a known rare nonsense substitution in the nuclear ligase gene LIG4 (rs104894419, NM_002312.3:c.2440C>T) that predicts p.Arg814X (MAF:0.0002) and an NM_002312.3:c.613delT variant that predicts a p.Ser205Leufs*29 frameshift. The frameshift mutation has not been reported in 1000 Genomes, ESP, or ClinSeq. These LIG4 mutations were previously reported in the sibling sister; her brother had not been previously tested. Western blotting showed an absence of a ligase IV band in both siblings. In the third patient, array SNP genotyping revealed a de novo ∼ 3.89 Mb interstitial deletion at chromosome 17q24.2 (chr 17:62,068,463-65,963,102, hg18), which spanned the known Carney complex gene PRKAR1A. In all three patients, a median lymphocyte telomere length of ≤ 1st centile was observed and radiosensitivity assays showed increased sensitivity to ionizing radiation. Our work suggests that, in addition to dyskeratosis congenita, LIG4 and 17q24.2 syndromes also feature shortened telomeres; to confirm this, telomere length testing should be considered in both disorders. Taken together, our work and other reports on Dubowitz syndrome, as currently recognized, suggest that it is not a unitary entity but instead a collection of phenotypically similar disorders. As a clinical entity, Dubowitz syndrome will need continual re-evaluation and re-definition as its constituent phenotypes are determined.
[Mh] MeSH terms primary: Eczema/diagnosis
Eczema/genetics
Growth Disorders/diagnosis
Growth Disorders/genetics
Intellectual Disability/diagnosis
Intellectual Disability/genetics
Microcephaly/diagnosis
Microcephaly/genetics
[Mh] MeSH terms secundary: Adult
Dyskeratosis Congenita/diagnosis
Dyskeratosis Congenita/genetics
Facies
Female
Frameshift Mutation/genetics
Genetic Heterogeneity
Genotype
Humans
Male
Polymorphism, Single Nucleotide/genetics
Telomere/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Em] Entry month:1501
[Cu] Class update date: 150813
[Lr] Last revision date:150813
[Js] Journal subset:IM
[Da] Date of entry for processing:140604
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0098686

  7 / 5704 MEDLINE  
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[PMID]: 26071298
[Au] Autor:Bagul PK; Borgaonkar DV; Jaiswal V; Phadke MS; Lanjewar CP; Kerkar PG
[Ad] Address:Department of Cardiology, King Edward Memorial Hospital, Mumbai, India. Electronic address: pritishbagul@yahoo.co.in....
[Ti] Title:Myriad manifestations of Williams syndrome.
[So] Source:Indian Heart J;67(2):156-8, 2015 Mar-Apr.
[Is] ISSN:0019-4832
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:4 months male child presented with failure to thrive. On general examination child had normal O2 saturation with characteristic elfin facies. Further evaluation of the patient showed major manifestations of Williams syndrome in form of supravalvar aortic stenosis, branched pulmonary artery stenosis along with cardiomyopathy. Although the entity is known, this article shows comprehensive diagnostic workup with the aid of multimodality imaging techniques. The genetic diagnosis of Williams syndrome was confirmed using fluroscent in situ hybridisation techniques (FISH). In this patient most of the manifestations of elastin vasculopathy were noted in the form of involvement of ascending aorta, pulmonary arteries and myocardium. We also want to emphasis the importance of echocardiography in newborn patients with dysmorphic facies as Williams syndrome can be easily missed in neonatal period.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1506
[Cu] Class update date: 150624
[Lr] Last revision date:150624
[Js] Journal subset:IM
[St] Status:In-Process

  8 / 5704 MEDLINE  
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[PMID]: 26002408
[Au] Autor:Ueda K; Yamada J; Takemoto O; Okamoto N
[Ad] Address:Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. Electronic address: kimi-h-u@mch.pref.osaka.jp....
[Ti] Title:Eight patients with Williams syndrome and craniosynostosis.
[So] Source:Eur J Med Genet;58(6-7):355-7, 2015 Jun-Jul.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Williams syndrome (WS) is a well-known genetic syndrome caused by a microdeletion on chromosome 7q11.23 encompassing the elastin gene. It is characterized by distinctive facies, congenital cardiovascular malformations, intellectual disabilities, and various other manifestations. Some patients were reported with craniosynostosis. Here, we report 8 WS cases diagnosed with craniosynostosis using three-dimensional cranial computed tomography. These findings suggest that craniosynostosis may occur more frequently in WS patients than expected.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1506
[Js] Journal subset:IM
[St] Status:In-Process

  9 / 5704 MEDLINE  
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[PMID]: 26250220
[Au] Autor:Hill L
[Ad] Address:P.O. Box 303, Devonport 7310, Australia.; Email: Lionel.Hill@dpipwe.tas.gov.au.
[Ti] Title:Three new genera of Schizopteridae from Australia with description of six new species (Hemiptera: Heteroptera: Schizopteridae).
[So] Source:Zootaxa;3990(1):73-96, 2015.
[Is] ISSN:1175-5326
[Cp] Country of publication:New Zealand
[La] Language:eng
[Ab] Abstract:From Australia, three new schizopterid genera are described for six new species. The three new genera and Pachyplagioides Gross, 1951 share a declivent head with well-developed internal postocciptal region and a 3-segmented labium with bulbous base. The new genera and species are Parvodeceptor infrequens gen. n., sp. n., Dextritubus cucullatus gen. n., sp. n., D. acucullatus gen. n., sp. n., D. nubis gen. n., sp. n., Carinatala septentrionalis gen. n., sp. n. and C. meridiana gen. n., sp. n. Their description brings to near completion the known generic diversity of Australian Schizopteridae. Parvodeceptor has superficially hypselsomatine facies and may have affinity with the African Humpatanannus Wygodzinsky 1950. Dextritubus has accessory male genitalia reminiscent of Semangananus Stys, 1974 and Vilhenannus Wygodzinsky, 1950. Carinatala has dentate male fore and mid claws, not previously recorded in the family, and an unusual inflatable, spiculate vesica reminiscent of Dundonannus Wygodzinsky 1950. The retention of the internal postocciptal region in several schizopterid genera and lack of its correlation with declivent versus porrect head condition is outlined.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1508
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.11646/zootaxa.3990.1.4

  10 / 5704 MEDLINE  
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[PMID]: 26164976
[Au] Autor:Chehab G; Darido J; El-RAassi I; Gerbaka B; Smayra T; Saliba Z
[Ti] Title:STÉNOSE SUPRAVALVULAIRE AORTIQUE AVEC OU SANS LÉSIONS CORONAIRES EN PÉDIATRIE--ÉTUDE LIBANAISE. [Supravalvular aortic stenosis with and without coronary lesions in pediatrics. A Lebanese study].
[So] Source:J Med Liban;63(2):81-6, 2015 Apr-Jun.
[Is] ISSN:0023-9852
[Cp] Country of publication:Lebanon
[La] Language:fre
[Ab] Abstract:OBJECTIVE: This study aims to analyze several parameters concerning the supravalvular aortic stenosis (SVAS) in children such as age of diagnosis, place of residence, the existence of a metabolic disorder or dysmorphic syndrome and possible damage to the coronary ostia, the means of diagnosis and outcome of these patients. MATERIALS AND METHODS: A large group of patients (2868) with congenital heart disease enrolled between 1 May 1999 and 30 April 2010 at the National Register of Pediatric and Congenital Heart Disease, Lebanese Society of Cardiology. RESULTS: SVAS were found in 14 patients (0.5%) aged 8.5 months to 15 years. The Williams Beuren syndrome was the most common etiology (6 cases) without ostial stenosis, asymptomatic and not treated, followed by forms without dysmorphic syndrome (5 cases) and without ostial stenosis, one patient was operated because of severe SVAS; finally, 3 cases of homozygous familial hypercholesterolemia treated differently: a patient had a successful liver transplantation at age of 4.5 years but has developed, despite the normalization of cholesterol level, a SVAS associated with severe ostial lesions 10 years after transplantation, another treated by coronary artery bypass graft surgery and the latter treated medically. CONCLUSION: SVAS is a very rare disease, but its discovery must lead to search for coronary lesions especially in presence of homozygous familial hypercholesterolemia. The ultrasound monitoring is mandatory and is designed to detect this anomaly and early coronary lesions. The slightest suspicion should carry out more extensive explorations to detect ostial stenosis.
[Mh] MeSH terms primary: Aortic Stenosis, Supravalvular/epidemiology
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Female
Humans
Hyperlipoproteinemia Type II/epidemiology
Infant
Lebanon/epidemiology
Male
Pulmonary Valve Stenosis/epidemiology
Registries
Retrospective Studies
Williams Syndrome/epidemiology
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1508
[Js] Journal subset:IM
[Da] Date of entry for processing:150713
[St] Status:MEDLINE


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