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At least 343 records · Page 19Linked to original sources
PubMed1994

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who survived had hypoplastic teeth. Both of the male patients had cryptorchidism. These four children have a distinctive syndrome which is similar to that reported by Biesecker (J Med Genet (1991) 28: 131-134).

Abnormalities, Multiple↗
PubMed1993

A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome.

We report a severely mentally retarded young male with the features of the W syndrome. This syndrome, to date described in only two brothers of one family, is characterized by severe mental retardation with seizures and a pattern of facial dysmorphisms including high broad forehead, down-slanting palpebral fissures, hypertelorism, abnormal configuration of the maxilla and mandible, peculiar nose, and incomplete midline oral cleft. The face has been compared to that of a boxer (pugilistic face). Mild skeletal anomalies have also been described. Inheritance is probably X-linked. The present report corroborates the existence of this hitherto private syndrome.

Abnormalities, Multiple↗
PubMed1977

A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.

A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested.

Adolescent↗
PubMed2002

Fluorescently labelled bovine acyl-CoA-binding protein acting as an acyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use in measuring free acyl-CoA esters and non-esterified fatty acids.

Long-chain acyl-CoA esters are key metabolites in lipid synthesis and beta-oxidation but, at the same time, are important regulators of intermediate metabolism, insulin secretion, vesicular trafficking and gene expression. Key tools in studying the regulatory functions of acyl-CoA esters are reliable methods for the determination of free acyl-CoA concentrations. No such method is presently available. In the present study, we describe the synthesis of two acyl-CoA sensors for measuring free acyl-CoA concentrations using acyl-CoA-binding protein as a scaffold. Met24 and Ala53 of bovine acyl-CoA-binding protein were replaced by cysteine residues, which were covalently modified with 6-bromoacetyl-2-dimethylaminonaphthalene to make the two fluorescent acyl-CoA indicators (FACIs) FACI-24 and FACI-53. FACI-24 and FACI-53 showed fluorescence emission maximum at 510 and 525 nm respectively, in the absence of ligand (excitation 387 nm). Titration of FACI-24 and FACI-53 with hexadecanoyl-CoA and dodecanoyl-CoA increased the fluorescence yield 5.5-and 4.7-fold at 460 and 495 nm respectively. FACI-24 exhibited a high, and similar increase in, fluorescence yield at 460 nm upon binding of C14-C20 saturated and unsaturated acyl-CoA esters. Both indicators bind long-chain (>C14) acyl-CoA esters with high specificity and affinity (K(d)=0.6-1.7 nM). FACI-53 showed a high fluorescence yield for C8-C12 acyl chains. It is shown that FACI-24 acts as a sensitive acyl-CoA sensor for measuring the concentration of free acyl-CoA, acyl-CoA synthetase activity and the concentrations of free fatty acids after conversion of the fatty acid into their respective acyl-CoA esters.

Acyl Coenzyme A↗
PubMedDate not supplied

[Malaria situation in Madagascar].

Malaria remains one of the major public health problems in Madagascar. For malaria, most of the eco-epidemiological facies of the African continent are found on this large island because of its geo-climatic diversity. These include the subequatorial facies on the east coast, the tropical facies on the west coast, the high-altitude tropical facies in the center and the subdesert facies in the south. In the first two facies, the stable type of malaria is encountered, where the major vectors are A. gambia and A. funestus. In the other two facies, the transmission of the disease is highly unstable yet causes deadly epidemics, principally from A. arabiensis. Malaria is even imported to a few inhabited zones situated above 1,500 m in altitude and to the centers of the large cities. The strategies of the fight against malaria consist of the following; early and correct health care of the cases throughout the country, supported by the community; drug prophylaxis for the target group of pregnant women; and eradication of adult insects in the central highlands, supported by an efficient surveillance. The utilization of mosquito bed nets impregnated with insecticide has not yet gone beyond the trial period. However, despite the efforts undertaken and the expenses run through by the national program, the fight against malaria is still far from covering the entire population. The high costs of spraying within the homes, the expanse of the country and the poor accessibility of many regions during the season of transmission, and insufficient sanitary coverage of the rural population in terms of quality and quantity, constitute the principal constraints of the fight. The current reorganization of the health service in Madagascar constitutes a favorable opportunity to establish a new approach for the fight against malaria. This is geared towards the participation of the decentralized health structures and the contribution of the community in the conception and the achievement of their respective strategies for the fight, supported by the central Service of the Fight Against Malaria. This new decentralized approach seems more appropriate to respond to the demands of the specific and selective strategies of the fight, better adapted to the different facies described above, and to render the National Program of the Fight Against Malaria more efficacious.

Climate↗
PubMed1991

Topographical distribution of trabecular bone strength in the human os calcanei.

Mechanical properties of twenty human os calcanei were determined by uniaxial compression testing of bone specimens from facies articularis talaris posterior, facies articularis cuboidea, and tuber calcanei. Specimens were taken oriented perpendicular to the planes of the facies articularis, and in tuber along the presumed loading axis throughout the gait cycle. Young's modulus and strength at facies articularis cuboidea and facies articularis talaris posterior were about three times those at the tuber calcanei. The variation of the relationship between Young's modulus and apparent density indicated differences in the orientation of the trabecula, in relation to the direction of evaluation between these locations. A more detailed analysis of the topographical variation of strength within each location was made using penetration testing of a further nineteen specimens. The results of both types of measurements indicated that the major part of the load during walking is carried by facies articularis talaris posterior and facies articularis cuboidea.

Adult↗
PubMed1993

Molecular and bulk isotopic analyses of organic matter in marls of the Mulhouse Basin (Tertiary, Alsace, France).

Contents of 13C in kerogens and carbonates in 21 samples from a core of the MAX borehole, Mulhouse Evaporite Basin, range from -27.3 to -23.5 and -3.7 to -1.8% vs PDB, respectively. Organic nitrogen in the same samples is enriched in 15N relative to atmospheric N2 by 12.2-15.7%. Hydrogen indices and delta values for kerogens vary systematically with facies, averaging 493 mg HC/g Corg and -25.7% in the most saline facies (dominated by inputs from aquatic sources) and 267 mg HC/g Corg and -23.7% in the least saline facies (50/50 aquatic/terrigenous). Values of delta were measured for individual aliphatic hydrocarbons from three samples representing three different organic facies. For all samples, terrigenous inputs were unusually rich in 13C, the estimated delta value for bulk terrigenous debris, apparently derived partly from CAM plants, being -22.5%. In the most saline facies, isotopic evidence indicates the mixing of 13C-depleted products of photosynthetic bacteria with 13C-enriched products of halotolerant eukaryotic algae. At lower salinities, a change in the producer community is marked by a decrease in the 13C content of algal lipids. The content of 13C in algal lipids increases in the least saline facies, due either to succession of different organisms or to decreased concentrations of dissolved CO2.

Alkanes↗
PubMed2004

Morphological characteristics of the acetabulum.

The aim of this research was to accurately measure the surface of the semi lunar articular surface of the pelvis (facies lunata acetabuli) and the variability of the acetabular geometry, as well as to determine the correlation between measured parameters. 30 macerated anatomical specimens of pelvic bones were measured. The radius and depth were measured in the classical way, while cartilaginous surface area was measured using small fragments of measuring paper to avoid errors in measurement due to the curvature of the surface. Computerized calculations provided accurate surface values. In our research, facies lunata acetabuli measured 2294+/-329 mm2. Diameter of the opening of the acetabulum measured 25.8+/-1.9 mm. Acetabular depth was 30+/-3.2 mm. Correlations between the surface area of the facies lunata acetabuli and the radius of the acetabular opening curvature (r=0.71), surface area of the facies lunata acetabuli and the depth of the acetabulum (r=0.80) and the radius of the acetabular opening curvature and the depth of the acetabulum (r=0.80) were confirmed. For precise assessment of the facies lunata acetabuli surface area, the simplest and the cheapest method is the method of measurement using small fragments of measuring paper and software analysis. There is a significant correlation between the depth, opening of the acetabulum and surface area of the facies lunata.

Acetabulum↗
PubMed1997

Sex determination by discriminant analysis of calcanei measurements.

Eight measurements taken on the right calcaneus (maximum length, load arm width, minimum width, height of calcaneus, body height, breadth of the facies articularis talaris posterior, breadth and height of the facies articularis cuboidea) of a known contemporary Southern Italian skeletal population (40 males and 40 females) were used to determine sex by multivariate discriminant analysis. Three functions revealed a correct sex-determination of 85%. These functions were obtained by the association of the following parameters: maximum length, load arm width and breadth of the facies art. talaris post. (function no. 1); maximum length and breadth of the facies art. talaris post. (function no. 2); maximum length and height of the facies art. cuboidea and breadth of the facies art. cuboidea (function no. 3). These results may aid the forensic anthropologist when no other remains, useful for skeletal sex determination, are available.

Adult↗
PubMed2007

Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.

OBJECTIVE: To identify characteristics associated with microdeletions of chromosome 22q11.2 ascertained by fluorescent in situ hybridization (FISH) analysis in patients with velopharyngeal insufficiency (VPI), cleft palate, or other clinical features of velocardiofacial syndrome (VCFS). DESIGN/SETTING: Retrospective review of all patients entered at one tertiary-level multidisciplinary cleft lip and palate and craniofacial anomalies panel from January 2000 to December 2003. PATIENTS: The study consisted of 115 patients. The presence or absence of the following clinical features was documented: cleft palate (submucous and overt), VPI, cardiac anomalies, renal anomalies, small stature, characteristic facies, developmental delay, psychiatric dysfunction, and family history. MAIN OUTCOME MEASURE: Correlation between presence or absence of clinical features of VCFS and presence or absence of 22q11.2 microdeletion by FISH analysis. RESULTS: Of the 16 patients (13.9%) who demonstrated 22q11.2 microdeletion by FISH analysis, 16 had VPI (100%), 16 had small stature (100%), 14 had cleft palate (88%), and 13 had characteristic facies (81%). Developmental delay was also present in 13 of these patients (81%), and seven had cardiac anomalies (44%). Multiple regression analysis revealed that the presence of characteristic facies and small stature statistically correlated with microdeletions of chromosome 22q11.2 by FISH studies (p < .05). CONCLUSIONS: Patients with microdeletions of chromosome 22q11.2 as demonstrated by FISH analysis were more likely to have VPI, small stature, cleft palate, characteristic facies, and developmental delay, in descending order. Statistical analysis showed that only characteristic facies and small stature correlated with 22q11.2 microdeletions.

Adolescent↗
PubMed2006

Micro method for determination of nonesterified fatty acid in whole blood obtained by fingertip puncture.

Diagnostic tools for early identification of subjects at high risk for type 2 diabetes and other obesity-related disorders are important in prevention of these diseases. Nonesterified fatty acids (NEFAs) have been suggested to serve as a prediagnostic marker of diabetes and obesity-related disorders. In the current study, we developed a sensitive and reproducible micro method for quantification of NEFA in less than 10 microl whole blood. The method involves only two steps: (i) conversion of NEFA to fatty acid acyl-coenzyme A (acyl-CoA) esters using an acyl-CoA synthetase and (ii) quantification of the formed acyl-CoA esters with a fluorescent biosensor based on bovine acyl-CoA binding protein (ACBP). Lys50 of ACBP was mutagenized to a cysteine residue that was covalently modified with 6-bromoacetyl-2-dimethylaminonaphthalene to make a fluorescent acyl-CoA indicator (FACI-50). FACI-50 exhibits high fluorescence emission yield with maximum at 490 nm in the presence of CoA when excited at 387 nm. The addition of palmitoyl-CoA to a CoA-saturated FACI-50 lowered fluorescence emission by eightfold. Ethanol extract from 1 microl whole blood was incubated with ATP, CoA, and FACI-50. Following background fluorescence reading, NEFAs were converted to acyl-CoA by the acyl-CoA synthetase and the NEFA content was calculated from fluorescence emission changes using palmitic acid as external standard. The FACI-50 NEFA method was compared with two commercially available methods for quantification of NEFA.

Acyl Coenzyme A↗
PubMedDate not supplied

Modeling multiscale heterogeneity and aquifer interconnectivity.

A number of methods involving indicator geostatistics were combined in a methodology for characterizing and modeling multiscale heterogeneity. The methodology circumvents sources of bias common in data from borehole logs. We applied this methodology to the complex heterogeneity within a regional system of buried valley aquifers, which occurs in the western glaciated plains of North America and includes the Spiritwood Aquifer. The region is conceptualized as having a hierarchical organization with three facies assemblage types (large-scale heterogeneity) and two facies types within each assemblage (small-scale heterogeneity). We statistically characterized the sedimentary architecture at both scales, formulated indicator correlation models from those characterizations, and used the models to simulate the architecture in a multiscale realization. We focused on the interconnectivity of units creating higher-permeability pathways. Higher-permeability pathways span the realization even though the proportion of higher-permeability facies is less than the percolation threshold. Thus, geologic structures as represented in the indicator correlation models create interconnectivity above that which would occur if the higher-permeability facies were randomly placed. This amount of interconnection among higher-permeability facies within the multiscale realization is consistent with that suggested in prior hydraulic and geochemical studies of the regional system.

Geologic Sediments↗
PubMed2003

[Morphological study of bile in the diagnosis of biliary diseases].

The purpose of this work was to study principles of bile structurization in healthy people and patients with various biliary diseases. 160 patients with different biliary diseases and other diseases of the hepatopancreaticoduodenal zone were examined. Samples of gallbladder bile were taken from corpses of young men, who did not have any diseases of the hepatopancreaticoduodenal zone. Their diagnoses were confirmed by an ultrasound morphological study. Bile was studied by the cuneate dehydration and viscosimetric methods. The structure of facies of gallbladder bile under conditions of absence of diseases of the hepatopancreaticoduodenal zone was shown. The facies have a wide convex peripheral zone (a cushion) without any well-defined border. The central part of the facies is amorphous or fine-grained, sometimes with occasional inclusions of larger crystals. Markers of exacerbation of chronic cholecystitis (dendrites in the central zone of bile facies) as well as signs of the presence of a malignant neoplasm touching the bile (large diamond-shaped crystals in the central zone of bile facies where dendrites begin) were discovered.

Adult↗
PubMed1993

[Epidemiological stratification of malaria in Madagascar].

Madagascar is considered as a sub-region of the Afrotropical geographical Region in spite of the high endemicity of 95% of the invertebrates. Nevertheless the three malaria vectors An. gambiae s.s., An. arabiensis and An. funestus are quite similar to those of the continental Africa. This support the hypothesis of their recent introduction. Plasmodium falciparum is the dominant parasite but the prevalence of P. vivax is not negligible. It is linked to the Asian component of the human population. P. malariae and P. ovale are of minor importance. The main epidemiological "facies" of Africa are found in Madagascar. The equatorial facies on the East Coast is characterized by a high transmission all year long. In the tropical facies on the West Coast transmission is seasonal (7 months at least). In both areas, malaria is stable and the inhabitants acquire a high immunity before the age of ten; most of the severe cases touch children below 10. The three vectors can be found but An. gambiae s.s. is dominant. In the exophilic southern facies the transmission is seasonal (two to four months). The only vector is An. arabiensis. Malaria is unstable and severe epidemics occur during the years of high rainfall. All age groups are vulnerable because the population is not immune in the Plateaux facies above 1,000 m., malaria is unstable. Severe epidemics occurred in 1987-1988. The vectors are An. Arabiensis and An. funestus. The occurrence of P. falciparum on the Plateaux seems linked to the development of irrigation of rice farming in the XIXth century. Most of the anopheles breeding places on the Plateaux are dependent on rice cultivation. Urban development has brought the inhabitants of the suburbs in close contact with rice fields. Despite the high number of anopheline bites the number of malaria cases remains by far lower than in the neighbouring rural areas. Regional migrations inside the island bring non-immune populations, from the south and the plateaux, in highly malarious areas of the coast, where the migrants are exposed to high risk. In spite of 40 years of uncontrolled use, chloroquine can still cure most, if not all, of malaria cases. Control measures appropriated to the different areas of Madagascar are discussed.

Agriculture↗
PubMedDate not supplied

Stratigraphy, age and environments of the late Miocene Mpesida Beds, Tugen Hills, Kenya.

Interpretations of faunal assemblages from the late Miocene Mpesida Beds in the Tugen Hills of the Central Kenyan Rift Valley have figured prominently in discussions of faunal turnover and establishment of the modern East African communities. These faunal changes have important implications for the divergence of the human lineage from the African apes ca. 8-5 Ma. While fossil material recovered from the Mpesida Beds has traditionally been analyzed collectively, accumulating evidence indicates that Mpesida facies span the 7-6 Ma interval and are scattered more than 25 km along the eastern flanks of the Tugen Hills. Stratigraphic distinctions between Mpesida facies and younger sediments in the sequence, such as the Lukeino Formation, are not yet fully resolved, further complicating temporal assessments and stratigraphic context of Mpesida facies. These issues are discussed with specific reference to exposures of Mpesida facies at Rurmoch, where large fossil tree fragments were swept up in an ancient ash flow. Preserved anatomical features of the fossil wood as well as estimated tree heights suggest a wet, lowland rainforest in this portion of the rift valley. Stable isotopic analyses of fossil enamel and paleosol components indicate the presence of more open habitats locally. Overlying air-fall tuffs and epiclastic debris, possibly associated with the ash flow, have yielded an assemblage of vertebrate fossils including two teeth belonging to one of the earliest colombines of typical body size known from Africa, after the rather small Microcolobus. Single-crystal, laser-fusion,(40)Ar/(39)Ar dates from a capping trachyte flow as well as tuffs just below the lava contact indicate an age of greater than 6.37 Ma for the fossil material.

Animals↗