SEARCH · Search PubMed

Results for “Facies”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 415 records · Page 23Linked to original sources

PubMed2000

Associations of Vertebrate Skeletal Concentrations and Discontinuity Surfaces in Terrestrial and Shallow Marine Records: A Test in the Cretaceous of Montana.

Although lags of bones and teeth are commonly cited criteria for marine unconformities, the consistency of the association of vertebrate fossils and discontinuity surfaces, as well as the taphonomic (postmortem) controls on this relationship, are poorly understood. A field test across fluvial, paralic, and shallow marine facies in the Campanian Two Medicine and Judith River formations of Montana indicates that the distribution of vertebrate skeletal concentrations is poorly correlated with the inferred durations of erosional and omissional hiatuses. Instead, vertebrate concentrations associated with discontinuities of all durations tend to be patchy and closely track the abundance of fossil material in underlying and lateral facies. Based on the analysis of 83 measured sections, we found first that erosional bases of channels and minor scours within channels yield vertebrate lags; tidally influenced fluvial deposits are more productive than are "upland" fluvial deposits. Second, erosional shoreface ravinements and their correlative transgressive marine flooding surfaces (fourth-order sequence boundaries) have well-developed vertebrate lags only along segments that cut across older shoreface deposits. Third, a nonerosional, widely traceable discontinuity, which is interpreted as the nonmarine extension of a 75.4-Ma third-order transgressive surface, is completely lacking in vertebrate concentrations. Despite being unfossiliferous itself, this discontinuity does mark a regional change in the richness of the vertebrate fossil record, with overlying beds characterized by a much greater abundance of skeletal material. Fourth, a laterally extensive set of erosional surfaces, embedded within multistory fluvial sandstone sheets, is the nonmarine extension of an 80-Ma third-order sequence boundary in the marine basin and lacks vertebrate concentrations. The strong dependence of vertebrate lag development on preexisting local sources of skeletal material rather than on the magnitude of the erosional vacuity or the duration of the hiatus contrasts with skeletal concentrations of invertebrates in marine successions, where exhumation is generally much less important than the production of new elements during the hiatus. These findings provide a guide to prospecting productive fossil horizons in terrestrial records and underscore fundamental differences in the ways in which bioclastic material accumulates in terrestrial and shallow marine settings, the qualities of paleobiologic data derived from such concentrations, and the relative reliabilities of skeletal material as cues to stratigraphically significant discontinuities.

Journal Article↗

PubMedDate not supplied

Language and behavior in children with Sotos syndrome.

OBJECTIVE: To examine language and behavior in children with Sotos syndrome, an overgrowth syndrome involving advanced bone age, characteristic facies, and developmental disability. METHOD: Twenty-seven children with Sotos syndrome were compared with 20 children with overgrowth, intellectual disability, and facies not characteristic of Sotos syndrome. Ages ranged from 5 to 16 years. Direct assessment was undertaken with standardized measures of intelligence and language abilities. Behavior was examined by parent and teacher report. RESULTS: Children with Sotos syndrome had levels of intelligence in the severely disabled to average range, with the majority falling in the borderline range. Mean level of intelligence was significantly higher than that observed for children in the comparison group. Language abilities were developed to a level consistent with overall level of intelligence. Rates of parent- and teacher-reported behavior problems were significantly higher than normal, but, with the exception of temper tantrums, did not differ from those observed in children in the comparison group. Attention-deficit hyperactivity disorder was observed in 38% of children with Sotos syndrome. They were more irritable and had more stereotypic behavior and inappropriate speech than is expected in children with intellectual disabilities, and they were more withdrawn and had more stereotypic behavior than children in the comparison group. CONCLUSIONS: Assessment of language abilities revealed no specific language impairment. High rates of behavior problems were observed, but these were not higher than those observed for other large, delayed, dysmorphic children.

Abnormalities, Multiple↗

PubMed1995

Methylprednisolone pharmacokinetics, cortisol response, and adverse effects in black and white renal transplant recipients.

It is generally assumed that chronic glucocorticoid therapy is similar pharmacologically when administered to either black or white renal transplant recipients, resulting in adrenal suppression, low circulating plasma cortisol concentrations, and a similar degree of drug exposure and toxicity. To examine this theory and to investigate the relationship of glucocorticoid metabolism to steroid-induced adverse effects among specific ethnic groups of renal transplant recipients, 9 black and 9 white male patients chronically receiving methylprednisolone were enrolled. All patients had stable renal function and were matched for age, weight, and time since transplant. Standard pharmacokinetic parameters for methylprednisolone were determined and cortisol responses were characterized by total cortisol area under the concentration curve (AUC), return cortisol AUC, and cortisol suppression half-life. All patients received their daily oral dose of methylprednisolone (mean daily dose = 11 mg for blacks and 11 mg for whites) as an intravenous infusion with serial plasma samples obtained over 24 h. The patients were assessed for the presence of specific cushingoid manifestations (buffalo hump, moon facies) and steroid-associated diabetes. Methylprednisolone and cortisol were analyzed via HPLC. In the black patients, the mean clearance of methylprednisolone (206 +/- 70 ml/hr/kg) was significantly slower with a smaller volume of distribution (0.95 +/- 0.32 L/kg) when compared with the white group (327 +/- 129 ml/hr/kg, P = 0.03; volume of distribution = 1.33 +/- 0.27 L/kg, P = 0.015). Despite chronic methylprednisolone therapy, a definite 24-hr cortisol response pattern was noted in 15 of the 18 patients with a mean total cortisol AUC of 732 +/- 443 ng.hr/ml in blacks and 539 +/- 361 ng.hr/ml in whites (P = 0.17, black vs. white). The mean cortisol suppression half-life was 4.31 +/- 1.54 hr in black recipients and 4.11 +/- 1.49 hr in whites (P = 0.48). The mean return cortisol AUC for the black patients was 327 +/- 279 ng.hr/ml and 370 +/- 207 ng.hr/ml for white patients (P = 0.28). The serum cortisol nadir for black patients was 12.3 +/- 7.2 ng/ml, which was significantly higher than the cortisol nadir in white patients (6.4 +/- 4.4 ng/ml; P = 0.03). A majority (94%) of patients (9 black, 8 white) had moon facies and 27% of patients (3 black, 1 white) had a buffalo hump. While 5 of 9 black patients had steroid-associated diabetes, no white patients manifested this adverse effect. The black patients with diabetes had higher cortisol AUCs with lower methylprednisolone clearances than the white group.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗

PubMed1995

Fryns syndrome: two further cases without lateral diaphragmatic defects.

We report on two unrelated infants with Fryns syndrome but without lateral diaphragmatic defects. In case 1, a female stillborn, pertinent findings included a coarse facies, cleft palate, short neck with a broad pterygium, heart defect, lung hypoplasia, omphalocele, urogenital malformations, anal atresia, and distal digital hypoplasia. Case 2 showed a coarse facies with cleft lip and palate, para-oesophageal hernia with herniation of the stomach into the thoracic cavity, malrotation of the intestine, hydronephrosis, and anal atresia. At age 14 months she was developmentally severely retarded. These observations represent the 11th and 12th reports of probable Fryns syndrome without lateral diaphragmatic defect.

Abdomen↗

PubMed2001

Thrombocytopenia absent corpus callosum syndrome: third case of a distinct clinical entity.

Thrombocytopenia absent corpus callosum, characterized by refractory thrombocytopenia, agenesis of the corpus callosum, hypoplastic cerebellum, abnormal facies, and developmental delay, represents a relatively newly described clinical entity. An 18-month-old girl with agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, hypotonia, and severe developmental delay presented with thrombocytopenia. She had a distinctive facies with microcephaly, broad nasal root with upturned nose, small upper lip, and micrognathia. A bone marrow aspirate and biopsy showed normal cellularity with dysplastic megakaryocytes. Thrombocytopenia absent corpus callosum is compared with other conditions characterized by congenital non-immune thrombocytopenia.

Abnormalities, Multiple↗

PubMed2005

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.

OBJECTIVE: To report the phenotype-genotype correlation in a Belgian family that was ascertained to have a novel missense mutation in the NOG gene mapping to chromosome 17q22. STUDY DESIGN: To describe the phenotype, a retrospective case study was performed based on the otologic, audiologic, ophthalmologic, and radiologic data of the mutation carriers of the NOG gene. SETTING: Tertiary referral center. PATIENTS: All members of a Belgian kindred who carried the novel missense mutation in the NOG gene (NOG, Trp205Cys [W205C]; 1426G>C). INTERVENTIONS: Diagnostic otologic and ophthalmologic examination, audiometric analysis, and radiologic imaging. MAIN OUTCOME MEASURES: Phenotype-genotype correlations. RESULTS: All five mutation carriers had a typical facies. Bilateral proximal symphalangism and hyperopia were present in 80%. Five of 10 ears also had progressive early-onset conductive hearing loss caused by stapes ankylosis. CONCLUSIONS: So far, 14 independent NOG mutations have been identified. The autosomal dominant disorder described in the present family was caused by a novel NOG missense mutation (NOG, Trp205Cys [W205C]; 1426G>C). The phenotype correlated well with the facioaudiosymphalangism syndrome. The mutation carriers demonstrated progressive multiple joint fusions, hyperopia, early-onset conductive deafness, and a typical facies.

Abnormalities, Multiple↗

PubMed2002

Comparison of clay mineral stratigraphy to other proxy palaeoclimate indicators in the Mesozoic of NW Europe.

This paper reviews the opportunities and pitfalls associated with using clay mineralogical analysis in palaeoclimatic reconstructions. Following this, conjunctive methods of improving the reliability of clay mineralogical analysis are reviewed. The Mesozoic succession of NW Europe is employed as a case study. This demonstrates the relationship between clay mineralogy and palaeoclimate. Proxy analyses may be integrated with clay mineralogical analysis to provide an assessment of aridity-humidity contrasts in the hinterland climate. As an example, the abundance of kaolinite through the Mesozoic shows that, while interpretations may be difficult, the Mesozoic climate of NW Europe was subject to great changes in rates of continental precipitation. We may compare sedimentological (facies, mineralogy, geochemistry) indicators of palaeoprecipitation with palaeotemperature estimates. The integration of clay mineralogical analyses with other sedimentological proxy indicators of palaeoclimate allows differentiation of palaeoclimatic effects from those of sea-level and tectonic change. We may also observe how widespread palaeoclimate changes were; whether they were diachronous or synchronous; how climate, sea level and tectonics interact to control sedimentary facies and what palaeoclimate indicators are reliable.

Aluminum Silicates↗

PubMed1998

Value, obligation and the asymmetry question.

Is there a prima facie obligation to produce additional individuals whose lives would be worth living? In his paper 'Is it good to make happy people?', Stuart Rachels argues not only that there is, but, also, that precisely as much weight should be assigned to the quality of life that would be enjoyed by such potential persons, if they were to be actualized, as to the quality of life enjoyed by actually existing persons. In response, I shall argue, first, that Rachels' view is exposed to very serious objections, and secondly, that his arguments in support of his position involve a crucial assumption, which cannot be sustained, concerning the relation between, on the one hand, propositions about good-making and bad-making properties, and, on the other, propositions about right-making and wrong-making ones. I shall then argue that there is a very plausible position concerning the conditions under which an action can be morally wrong which entails the following asymmetry: there is a prima facie obligation not to bring into existence individuals whose lives are not worth living, but there is no corresponding obligation to create additional individuals whose lives would be worth living.

Bioethical Issues↗

PubMed1990

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.

Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those patients that survive, there is a high association of spasticity, psychomotor retardation, growth failure, seizures, thermoregulatory instability, feeding difficulty, and recurrent otitis media and pneumonia. Three of our five patients had no radiographic evidence of vertebral body clefts, a finding which has previously been considered invariable in RCDP. Three of our patients had distinctive facies that differ from the classic Conradi-Hunermann facies.

Bone and Bones↗

PubMed2005

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.2. We report findings in a subject with a de novo t(5;7)(p15.2;p12.2) and an inv(3)(p24q24), who was found to have a cryptic microdeletion in the critical region for CdCs detected using a 1-Mb genomic microarray. In addition to 5p deletion, the proband had a de novo single clone loss at the 3p breakpoint of inv(3)(p24q24) and a familial single clone deletion at 18q12. Deletions were confirmed using microsatellite analysis and fluorescence in situ hybridization. The 5p deletion encompasses approximately 3 Mb, mapping to the border between bands 5p15.2 and 5p15.31. The single clone deletion on chromosome 3 maps to 3p24.3-3p25, for which there is no known phenotype. The clinical features of our proband differ from the characteristic CdC phenotype, which may reflect the combined effect of the two de novo microdeletions and/or may further refine the critical region for CdCs. Typical features of CdCs that are present in the proband include moderate intellectual disability, speech, and motor delay as well as dysmorphic features (e.g. broad and high nasal root, hypertelorism, and coarse facies). Expected CdCs features that are not present are growth delay, microcephaly, round facies, micrognathia, epicanthal folds, and the signature high-pitched cry. Behavioral traits in this subject included autism spectrum disorder, attention-deficit hyperactivity disorder, and unmanageable behavior including aggression, tantrums, irritability, and self-destructive behavior. Several of these behaviors have been previously reported in patients with 5p deletion syndrome. Although most agree on the cat-cry critical region (5p15.3), there is discrepancy in the precise location and size of the region associated with the more severe manifestations of CdCs. The clinical description of this proband and the characterization of his 5p deletion may help to further refine the phenotype-genotype associations in CdCs and autism spectrum disorder.

Adolescent↗

PubMed1989

Dominant craniometaphyseal dysplasia--a family study over five generations.

A two month old male infant being investigated for nasal obstruction was noted to have the typical facies and radiological changes of craniometaphyseal dysplasia. Investigation of the family detected 9 individuals in 4 generations with radiological evidence of craniometaphyseal dysplasia. Their ages ranged from 2 months to 70 years. Three presented with nasal obstruction, one with facial nerve dysfunction and three had developed deafness in or before their third decade. Two were asymptomatic. One family member, now dead, was known to have had early onset of deafness but had not been examined or X-rayed. All of the affected individuals were noted to have had the typical facies in childhood. Characteristic radiological findings in the cranium and long bones were present to a varying degree and were most prominent in those presenting in infancy.

Adolescent↗

PubMedDate not supplied

Heterogeneities in glaciofluvial deposits using an example from new hampshire.

The strong influence of subsurface heterogeneity on contaminant migration and in situ remediation calls for an improved understanding of its origins and more efficient methods of characterization. Accordingly, an outcrop study of physical and chemical heterogeneity was conducted in a glaciofluvial deposit in Deerfield, New Hampshire, in order to uncover processes controlling the spatial variation of sediment properties and evaluate the extent to which geologic information can be used to characterize the observed variation. The results indicate that physical and chemical properties at the Deerfield site have distinctly different spatial correlation structures. Lithologic facies explain 31% to 60% of the variation in permeability, dithionite citrate (DC)-extractable manganese, and DC-extractable aluminum. Lithofacies bounding surfaces do not separate regions of significantly different DC-extractable iron; instead, 49% of its variation is explained by sediment color. Color also accounts for 34% of the variation in DC-extractable aluminum and 60% of the variation in DC-extractable manganese. Strong relationships with sediment facies and/or color enable detailed mapping of permeability, extractable iron, and extractable manganese. Differences in the geometries of iron and manganese enrichment, petrographic observations, and scanning electron microscope analyses indicate that (hydr)oxide grain coatings originated from the postdepositional weathering of biotite and garnet, coupled with local, redox-driven redistribution of the liberated iron and manganese. The findings suggest that lithofacies and color information can aid the characterization and modeling of heterogeneity at similar carbon-poor glaciofluvial sites.

Aluminum↗

PubMed1996

Were kinetics of Archean calcium carbonate precipitation related to oxygen concentration?

Archean carbonates commonly contain decimetre- to metre-thick beds consisting entirely of fibrous calcite and neomorphosed fibrous aragonite that precipitated in situ on the sea floor. The fact that such thick accumulations of precipitated carbonate are rare in younger marine carbonates suggests an important change in the modes of calcium carbonate precipitation through time. Kinetics of carbonate precipitation depend on the concentration of inhibitors to precipitation that reduce crystallization rates and crystal nuclei formation, leading to kinetic maintenance of supersaturated solutions. Inhibitors also affect carbonate textures by limiting micrite precipitation and promoting growth of older carbonate crystals on the sea floor. Fe2+, a strong calcite-precipitation inhibitor, is thought to have been present at relatively high concentrations in Archean seawater because oxygen concentrations were low. The rise in oxygen concentration at 2.2-1.9 Ga led to the removal of Fe2+ from seawater and resulted in a shift from Archean facies, which commonly include precipitated beds, to Proterozoic facies, which contain more micritic sediment and only rare precipitated beds.

Calcium Carbonate↗

PubMed1980

The syndromes of Marshall and Weaver.

Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the findings in nine additional patients with the Marshall syndrome and concludes that the syndromes are two distinct entities. In the Marshall syndrome there is a characteristic facies, failure to thrive in terms of height, weight, and psychomotor development, and early death. In the Weaver syndome the infants thrive too well: weight and heights are much above normal. They also have increased bifrontal diameters, hypertonia, prominent finger pads, and thin, deep-set nails, and the face is quite different from the Marshall facies.

Bone Diseases, Developmental↗

PubMed1982

A family study of craniosynostosis, with probable recognition of a distinct syndrome.

A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two probands had Saethre-Chotzen-like facies and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. This syndrome is distinct from Pfeiffer syndrome, in which the facies more closely resembles that in Crouzon syndrome and in which it is the proximal phalanx of the big toe (and often of the thumb) which is abnormal. It is suggested that this newly recognised syndrome be called after Robinow and Sorauf, who appear to be the first to have described a family with the condition. One proband with coronal stenosis had a mother and brother affected, but no syndrome was recognised in them. Excluding this last case, no non-syndromic proband had an affected parent. The 58 probands with predominantly sagittal synostosis had 106 sibs, none of whom was affected. The 21 probands with predominantly coronal synostosis included one sib pair both affected; the remaining 17 sibs were unaffected. The four probands with predominantly metopic stenosis had 13 unaffected sibs and the four with multiple sutures involved had eight unaffected sibs. One sagittal proband had an unaffected monozygotic twin and another an unaffected dizygotic twin.

Craniosynostoses↗

PubMed1993

DiGeorge syndrome: part of CATCH 22.

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

Abnormalities, Multiple↗

PubMed1997

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

A syndrome with distinctive facies, poor muscle tone, absent deep tendon reflexes, tapered fingers, excessive fingerprint arches, genu valgum and mild-moderate mental retardation has occurred in four males in two generations of a white family of European ancestry. The facies are characterised by square configuration, tented upper lip, and thickening of the helices, upper eyelids, and alae nasi. At birth and at maturity, growth (head circumference, height, weight) of affected males is comparable to or greater than unaffected male sibs. Moderate impairment of cognitive function was documented (IQ scores between 40-51). Carriers show no heterozygote manifestations. This X linked condition appears to be different from other syndromes with mental retardation, although there are certain similarities with the alpha thalassaemia-mental retardation syndrome (ATR-X). Linkage analysis found tight linkage to DXS1166 and DXS995 in Xq13 and Xq21 respectively.

Abnormalities, Multiple↗

PubMedDate not supplied

Occurrence of an astrocytoma in a patient with Williams syndrome.

The Williams elfin facies syndrome (Williams-Beuren syndrome) is a disorder characterized by a typical facies, supravalvular aortic stenosis and mental retardation. Its coexistence with a brain tumor has, so far, never been described. Recently, we treated a patient who was previously diagnosed as having Williams syndrome for a cerebral astrocytoma. In view of the incidence of astrocytomas in children and the occurrence of Williams syndrome, we want to report this coincidence.

Aortic Valve Stenosis↗