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PubMed1975

[Trisomy 10q24--10qter].

The syndrome of trisomy 10q24leads to 10qter is described from three patients studied by the authors and five cases reported from the literature. The characteristic dysmorphy of the syndrome, although different from that of trisomy 21, nevertheless is reminiscent because of euroasiatic facies. The facies is broad, round, because of euroasiatic facies. The facies is broad, round, and flat, with a prominent malar region and a high and convex forehead. Palpebral fissures are narrow with bilateral epicanthal folds, and the nasal bridge is hypoplasitc. Marked joint laxity allows spontaneous and reductible subluxations. Growth retardation is the rule, and mental retardation is severe. No specific dermatoglyphic abnormalities are noted; there is a gap between the first and second toes, with a marked plantar crease separating them. Although trisomy 10q24leads to10qter results from various terminal translocations or pericentric inversion in one case, the location of the breakage point in band 10q24 suggests a particular lability of this zone.

Abnormalities, Multiple↗
PubMed1988

[Models of the geometry of the human ankle bone pulley: two series of geometric models for demonstrating the biomechanics of the ankle joint].

2 series of models demonstrate the geometrical shape of the human trochlea tali. We have changed step by step the shape of the 2 flanking articular facets of the trochlea, the course of the edges of the trochlea, and the length of their radii, and so we have found a model responding to the biomechanic conditions of the trochlea tali. The convex surface of this model (corresponding to the superior articular surface, i.e. the facies superior trochleae tali) is a torse, the medial flanking facet (corresponding to the medial articular facet of the trochlea, i.e. the facies malleolaris medialis) is a flat cone, the lateral flanking facet (corresponding to the lateral articular facet of the trochlea, i.e. the facies malleolaris lateralis) is a screwed (helicoidal) face. The resulting model shows the 2 completely different phases of motion in the ankle joint: During dorsiflexion (motion setting out from the neutral position towards the final position of dorsiflexion), the internal malleolus leads the talus, whereas the external malleolus is pushed outwards by the screwed lateral articular facet of the trocheal. The trochlea is moved like a hinge. In the final position of dorsiflexion, the malleoli tightly embrace the 2 flanking facets of the trochlea, whilst an obvious cleft appears dorsally and medially between the superior articular surface of the trochlea and the tibial roof (i.e. the facies articularis inferior tibiae). During plantarflexion (motion setting out from the neutral position towards the final position of plantarflexion), the external malleolus leads the talus, whereas the medial articular facet of the trochlea withdraws from the internal malleolus. The trochlea is moved like a screw. In the final position of plantarflexion, the superior articular surface of the trochlea closely contacts the tibial roof, whilst an obvious cleft appears between the medial articular facet of the trochlea and the internal malleolus.

Ankle Joint↗
PubMedDate not supplied

Median cleft face syndrome: MR and CT data from 11 children.

Examination (including CT and magnetic resonance studies) of 11 unrelated children with median cleft face syndrome revealed 6 (55%) with dense calcification of the falx and 5 (45%) with interhemispheric lipoma. Of the 11 children, 3 exhibited Sedano facies type A, 4 exhibited Sedano facies type B, and 4 exhibited Sedano facies type D. Type A patients had no calcification or lipoma. Two of three type A patients were products of separate twin gestations, the only twins in the series. Type B patients had frequent falx calcification (three of four) and interhemispheric lipoma (two of four). Two of the four type B patients had concurrent Goldenhar syndrome, the only such patients in the series. Type D patients also had frequent falx calcification (three of four) and interhemispheric lipoma (three of four). Patients with median cleft face syndrome and Sedano facies type B or D should be examined radiologically for concurrent intracranial pathology.

Brain Neoplasms↗
PubMed2006

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.

OBJECTIVE: To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation. METHODS: We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared. RESULTS: Family 1: Two affected pregnancies, both terminated. Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile. Fetus 2: Prenatal findings included premature epiphyseal stippling, paravertebral cartilaginous calcific foci, mild shortening of the long bones and flat facies. Mutation analysis of the mother and both fetuses revealed mutation in the emopamil-binding protein (EBP) gene. Family 2: Prenatal sonography showed scattered epiphyseal stippling, minimal vertebral segmentation anomalies, mild asymmetric limb shortening and flat facies. Female infant delivered at 39 weeks of gestation. Biochemical analysis in all three fetuses showed increased levels of serum 8(9)-cholestenol consistent with delta (8), delta (7)-isomerase deficiency and CDPX2. CONCLUSION: Prenatal diagnosis of CDPX2 is difficult because of marked phenotypic variation. Epiphyseal stippling, ectopic paravertebral calcifications, asymmetric shortening of long bones and dysmorphic flattened facies are crucial for prenatal diagnosis. DNA analysis of the CDPX2 gene and biochemical determination of the serum 8(9)-cholestenol level are important for diagnosis, especially if future pregnancies are planned.

Abnormalities, Multiple↗
PubMed1992

[The arterial blood supply of the tibial and practical consequences].

In the periosteum of the human tibia, the arterial blood supply shows a general sectorial angioarchitecture. There are 4 segments: proximal and distal 1/5, proximal and distal diaphysis. The proximal 1/5 of the tibial periosteum is supplied with blood by the aa. recurrentes tibiales anterior et posterior and the aa. inferiores medialis et lateralis genus. At the proximal diaphysis (next 3/10 of the tibia) periosteal branches arise from the a. tibialis anterior and the a. tibialis posterior. The distal diaphysis (following 3/10 below the middle of the tibia) is nourished exclusively by semicircular rami periostales of the a. tibialis anterior, which move around the bone from both sides and join with each other at the facies medialis. It is the only sector, which is supplied by a single main artery. Concerning the periosteal blood supply of the distal 1/5 of the tibia 2 different types are found. In 2/3 of the cases the lateral side is nourished by a great vessel of the a. fibularis, which is supported by branches arising from the a. tibialis anterior. In 1/3 of the cases this vessel of the a. fibularis is absent and rami periostales of the a. tibialis anterior nourish the lateral aspect of the distal tibia alone. The dorsal region is supplied in all cases by rami of the a. fibularis and a. tibialis posterior. On the medial side the periosteal nourishment is ensured only by anastomoses. Both the facies lateralis and the facies posterior are supplied by direct branches, which arise from the main arteries of the lower leg.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed2006

Hydrochemical identification of groundwater resources and their changes under the impacts of human activity in the Chah basin in western Iran.

Chemical properties and pollution of water resources were studied in the Chah basin that is located in the Hamadan province, western Iran. Water quality was characterized according to its major constituents and the geological features of the area. Chemical analysis results indicate that groundwaters show wide concentration ranges in major inorganic ions, reflecting complex hydrochemical processes. Groundwater in the studied area is, for the most part, weakly to moderately mineralized and dominated by the calcium (Ca(2+)) and bicarbonate (HCO3-) ions. Within the basin, three different hydrogeochemical facies have been identified: Ca-HCO(3), Ca-SO(4) and Mg-HCO(3). The predominant water type of groundwater samples is the Ca-HCO(3) facies in the recharge area and has a tendency toward Mg-HCO(3) and Ca-SO(4) facies along the direction of water flow. The samples were classified into four groups based on chloride (Cl(-)) and nitrate (NO3-) concentrations and the processes that control water chemistry has been discussed. The results explained the importance of cation exchange, mineral weathering, and anthropogenic activities on groundwater chemistry. It was indicated that cation exchange and Cl-salt inputs are the major process controlling the water chemistry of the low Cl(-) and high [NO3-] (group 2) and high Cl(-) and [NO3-] (group 4). Groundwaters low in NO3- and high in Cl(-) (group 3) and low in NO3- and Cl(-) (group 1) are mainly affected by cation exchange and mineral dissolution. Pollution of groundwaters appeared to be affected by the application of fertilizers, irrigation practice, and solubility of mineral phases and discharge of domestic sewage. Measuring and predicting the mass loading of pollutant to groundwater from specific agricultural systems seems to be useful aids in controlling pollutions in groundwater.

Environment↗
PubMed1994

Depositional and tectonic setting of the Archean Moodies Group, Barberton Greenstone Belt, South Africa.

The 3.22-3.10 Ga old Moodies Group, uppermost unit of the Swaziland Supergroup in the Barberton Greenstone Belt (BGB), is the oldest exposed, well-preserved quartz-rich sedimentary sequence on earth. It is preserved in structurally separate blocks in a heavily deformed fold-and-thrust belt. North of the Inyoka Fault, Moodies strata reach up to 3700 m in thickness. Detailed mapping, correlation of measured sections, and systematic analysis of paleocurrents show that the lower Moodies Group north of the Inyoka Fault forms a deepening- and fining-upward sequence from a basal alluvial conglomerate through braided fluvial, tidal, and deltaic sandstones to offshore sandy shelf deposits. The basal conglomerate and overlying fluvial facies were derived from the north and include abundant detritus eroded from underlying Fig Tree Group dacitic volcanic rocks. Shoreline-parallel transport and extensive reworking dominate overlying deltaic, tidal, and marine facies. The lithologies and arrangement of Moodies Group facies, sandstone petrology, the unconformable relationship between Moodies strata and older deformed rocks, presence of at least one syndepositional normal fault, and presence of basaltic flow rocks and airfall fall tuffs interbedded with the terrestrial strata collectively suggest that the lower Moodies Group was deposited in one or more intramontane basins in an extensional setting. Thinner Moodies sections south of the Inyoka Fault, generally less than 1000 m thick, may be correlative with the basal Moodies Group north of the Inyoka Fault and were probably deposited in separate basins. A northerly derived, southward-thinning fan-delta conglomerate in the upper part of the Moodies Group in the central BGB overlies lower strata with an angular unconformity. This and associated upper Moodies conglomerates mark the beginning of basin shortening by south- to southeast-directed thrust faulting along the northern margin of the BGB and suggest that the upper Moodies Group was deposited in a foreland basin. Timing, orientation, and style of shortening suggest that this deformation eventually incorporated most of the BGB into a major fold-and-thrust belt.

Aluminum Silicates↗
PubMed2006

Probabilistic study of well capture zones distribution at the Lauswiesen field site.

The delineation of well capture zones is of utmost environmental and engineering relevance as pumping wells are commonly used both for drinking water supply needs, where protection zones have to be defined, and for investigation and remediation of contaminated aquifers. We analyze the probabilistic nature of well capture zones within the well field located at the "Lauswiesen" experimental site. The test site is part of an alluvial heterogeneous aquifer located in the Neckar river valley, close to the city of Tübingen in South-West Germany. We explore the effect of different conceptual models of the structure of aquifer heterogeneities on the delineation of three-dimensional probabilistic well catchment and time-related capture zones, in the presence of migration of conservative solutes. The aquifer is modeled as a three-dimensional, doubly stochastic composite medium, where distributions of geo-materials and hydraulic properties are uncertain. We study the relative importance of uncertain facies geometry and uncertain hydraulic conductivity and porosity on predictions of catchment and solute time of travel to the pumping well by focusing on cases in which (1) the facies distribution is random, but the hydraulic properties of each material are fixed, and (2) both facies geometry and material properties vary stochastically. The problem is tackled within a conditional numerical Monte Carlo framework. Results are provided in terms of probabilistic demarcations of the three-dimensional well catchment and time-related capture zones. Our findings suggest that the uncertainty associated with the prediction of the location of the outer boundary of well catchment at the "Lauswiesen" site is significantly affected by the conceptual model adopted to incorporate the heterogeneous nature of the aquifer domain in a predictive framework. Taking into account randomness of both lithofacies distribution and materials hydraulic conductivity allows recognizing the existence of preferential flow paths that influence the extent of the well catchment and the solute travel time distribution at the site.

Computer Simulation↗
PubMed2003

Trace element differentiation in ferruginous accumulation soil patterns under tropical rainforest of southern Cameroon, the role of climatic change.

Regions under tropical rainforest cover, such as central Africa and Brazil are characterised by degradation and dismantling of old ferricrete structures. In southern Cameroon, these processes are relayed by present-day ferruginous accumulation soil facies, situated on the middle and the lower part of hill slopes. These facies become progressively harder towards the surface, containing from bottom to top, mainly kaolinite, kaolinite-goethite and Al-rich goethite-hematite, and are discontinuous to the relictic hematite-dominated ferricrete that exist in the upper part of the hill slope. These features were investigated in terms of geochemical differentiation of trace elements. It appears that, in contrast to the old ferricrete facies, the current ferruginous accumulations are enriched in transitional trace elements (V, Cr, Co, Y, Sc) and Pb, while alkali-earth elements are less differentiated. This recent chemical accumulation is controlled both by intense weathering of the granodiorite bedrock and by mobilisation of elements previously accumulated in the old ferricrete. The observed processes are clearly linked to the present-day humid climate with rising groundwater tables. They slowly replace the old ferricretes formed during Cretaceous time under more seasonal climatic conditions, representing an instructive case of continuos global change.

Journal Article↗
PubMed2006

Spectral properties of Lake Superior banded iron formation: application to Martian hematite deposits.

Several locations have been identified on Mars that expose bulk, coarsely crystalline gray hematite. These deposits have been interpreted as being sedimentary and formed in aqueous environments. Lake Superior Type (LST) banded iron formation (BIF) was investigated as a spectral and possible process analog to these deposits. In northern Michigan, LST BIF formed in a sedimentary, continental shelf or shallow basin environment under stable tectonic conditions, and the oxide facies contains gray, crystalline hematite. These deposits are Proterozoic in age and contain microfossils associated with the early diversification of life on Earth. Samples of the hematite-bearing oxide facies, as well as the carbonate facies, were collected and analyzed for their spectral and geochemical characteristics. Sample spectra were measured in the visible, near-infrared, and thermal infrared for comparison with remote and in situ spectra obtained at Mars. Thin section analysis, as well as X-ray diffraction and scanning electron microscopy measurements, were performed to determine detailed geochemistry. There is no evidence for BIF at Opportunity's Meridiani landing site, and the results of this work will provide useful data for determining whether BIFs exist elsewhere on Mars and are, thus, relevant to current and future Mars exploration missions.

Exobiology↗
PubMed2005

Does a normal foetus really have a future of value? A reply to Marquis.

The traditional approach to the abortion debate revolves around numerous issues, such as whether the foetus is a person, whether the foetus has rights, and more. Don Marquis suggests that this traditional approach leads to a standoff and that the abortion debate 'requires a different strategy.' Hence his 'future of value' strategy, which is summarized as follows: (1) A normal foetus has a future of value. (2) Depriving a normal foetus of a future of value imposes a misfortune on it. (3) Imposing a misfortune on a normal foetus is prima facie wrong. (4) Therefore, depriving a normal foetus of a future of value is prima facie wrong. (5) Killing a normal foetus deprives it of a future value. (6) Therefore, killing a normal foetus is prima facie wrong. In this paper, I argue that Marquis's strategy is not different since it involves the concept of person--a concept deeply rooted in the traditional approach. Specifically, I argue that futures are valuable insofar as they are not only dominated by goods of consciousness, but are experienced by psychologically continuous persons. Moreover, I argue that his strategy is not sound since premise (1) is false. Specifically, I argue that a normal foetus, at least during the first trimester, is not a person. Thus, during that stage of development it is not capable of experiencing its future as a psychologically continuous person and, hence, it does not have a future of value.

Abortion, Induced↗
PubMed1996

Microbenthic distribution of Proterozoic tidal flats: environmental and taphonomic considerations.

Silicified carbonates of the late Mesoproterozoic to early Neoproterozoic Society Cliffs Formation, Baffin Island, contain distinctive microfabrics and microbenthic assemblages whose paleo-environmental distribution within the formation parallels the distribution of these elements through Proterozoic time. In the Society Cliffs Formation, restricted carbonates--including microdigitate stromatolites, laminated tufa, and tufted microbial mats--consist predominantly of synsedimentary cements; these facies and the cyanobacterial fossils they contain are common in Paleoproterozoic successions but rare in Neoproterozoic and younger rocks. Less restricted tidal-flat facies in the formation are composed of laminated microbialites dominated by micritic carbonate lithified early, yet demonstrably after compaction; these strata contain cyanobacteria that are characteristic in Neoproterozoic rocks. Within the formation, the facies-dependent distribution of microbial populations reflects both the style and timing of carbonate deposition because of the strong substrate specificity of benthic cyanobacteria. A reasonable conclusion is that secular changes in microbenthic assemblages through Proterozoic time reflect a decrease in the overall representation of rapidly lithified carbonate substrates in younger peritidal environments, as well as concomitant changes in the taphonomic window of silicification through which early life is observed.

Biological Evolution↗
PubMed1985

Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.

A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. Review of the reported cases of ring chromosome 15 defines a malformation syndrome with a characteristic facies related to deletion of the 15q26.2----qter region. Russell-Silver and ring 15 syndromes share clinical features such as growth deficiency, triangular facies, digital anomalies, and café-au-lait spots. Microcephaly, mental retardation, facial dysmorphology, limb anomalies, and cardiac defects are more striking in ring chromosome 15 patients and are indications for karyotyping when found in conjunction with the Russell-Silver phenotype.

Chromosome Aberrations↗
PubMed1992

Sectorial angioarchitecture of the human tibia.

The blood supply of the periosteum of the human tibia was investigated by anatomical dissection of 12 lower extremities which were filled with injection mass. By division of the tibia into 4 segments (proximal and distal fifths; proximal and distal diaphysis) a general supplying system of the periosteum was found. The proximal fifth of the tibial periosteum is nourished by branches of the arteriae recurrentes tibiales anterior et posterior and the aa. inferiores medialis et lateralis genus. At the proximal diaphysis (next three tenths of the tibia) periosteal branches arise from the aa. tibialis anterior and posterior, whereas the distal diaphysis is nourished exclusively by semicircular vessels of the a. tibialis anterior which twine around the bone and merge with each other at the facies medialis. Concerning the periosteal blood supply of the distal fifth of the tibia, two different types were found. In two thirds of the cases the lateral side was nourished by branches of the a. tibialis anterior, which are supported by vessels from the a. fibularis. In one third the latter branch was absent so that the rami periostales arising from the a. tibialis anterior nourished the lateral aspect of the distal tibia alone. The dorsal region was supplied in all cases by rami of the a. fibularis and a. tibialis posterior. On the medial side the periosteal nourishment is ensured only by anastomosis. Branches of the a. tibialis anterior supply the facies lateralis and facies posterior where it is supported by vessels of the a. tibialis posterior and in a minor region of rami of the a. fibularis (distal) and a. poplitea (proximal).(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1993

Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency.

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.

Adolescent↗
PubMed2002

Science and society: different bioethical approaches towards animal experimentation.

The use of live animals for experiments plays an important role in many forms of research. This gives rise to an ethical dilemma. On the one hand, most of the animals used are sentient beings who may be harmed by the experiments. The research, on the other hand, may be vital for preventing, curing or alleviating human diseases. There is no consensus on how to tackle this dilemma. One extreme is the view taken by adherents of the so-called animal rights view. According to this view, we are never justified in harming animals for human purposes - however vital these purposes may be. The other extreme is the ruthless view, according to which animals are there to be used at our discretion. However, most people have a view situated somewhere between these two extremes. It is accepted that animals may be used for research - contrary to the animal rights view. However, contrary to the ruthless view, that is only accepted under certain conditions. The aim of this presentation is to present different ethical views which may serve as a foundation for specifying the circumstances under which it is acceptable to use animals for research. Three views serving this role are contractarianism, utilitarianism and a deontological approach. According to contractarianism, the key ethical issue is concern for the sentiments of other human beings in society, on whose co-operation those responsible for research depend. Thus it is acceptable to use animals as long as most people can see the point of the experiment and are not offended by the way it is done. According to utilitarianism, the key ethical issue is about the consequences for humans and animals. Thus it is justified to use animals for research if enough good comes out of it in terms of preventing suffering and creating happiness, and if there is no better alternative. In the deontological approach the prima facie duty of beneficence towards human beings has to be weighed against the prima facie duties not to harm animals and to respect their integrity. By weighing these prima facie duties, the moral problem of animal experimentation exists in finding which duty actually has to be considered as the decisive duty. It will be argued that these three views, even though they will all justify animal experimentation to some extent, will do so in practice under different conditions. Many current conflicts regarding the use of animals for research may be better understood in light of the conflict between the three bioethical perspectives provided by these views.

Animal Rights↗
PubMedDate not supplied

[William-Beuren syndrome: description of a case].

The Authors describe a case of William-Beuren Syndrome, also know as "Fanconi-Schlesinger Syndrome" or "Idiopathic Hypercalcaemia, supravalvular aortic stenosis, elfin facies syndrome". Irritability and chronic constipation are early features. Hypercalcaemia may occur in infancy but rarely after 1 year age. The facies is characteristic. Supravalvular aortic stenosis is the most frequent cardiac abnormality. Other common features are short stature, mental retardation and significant behavioural disorders. In this case report typical facies, short stature, behavioural disorders are associated with epilepsy in early years of life. Hypercalcaemia or cardiovascular malformation were not found.

Aortic Valve Stenosis↗
PubMed1997

Williams syndrome--the Singapore General Hospital experience.

Williams syndrome first described in 1961 is generally characterised by mental deficiency, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile hypercalcaemia. Patients with Williams syndrome show a hemizygous submicroscopic deletion of 7q11.23 detectable by fluorescent in-situ hybridisation (FISH). The deleted portion of the chromosome corresponds to the Elastin gene. We report 3 girls with characteristics of Williams syndrome in whom the diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by FISH. These patients, aged 6, 7 and 10 years, showed the characteristic facies and gregarious personalities. Some developmental delay with mild mental deficiency and dysmorphic facies were prominent features in the initial presentation. Cardiac lesions found in these patients were small patent ductus arteriosus which closed, pulmonary valvular stenosis and mitral valve prolapse associated with mitral regurgitation respectively. Hypercalcaemia was not documented in these patients. Learning difficulty was a major issue and all patients required special schooling. Chromosome analyses done on peripheral blood were found to be normal in all patients. FISH using the Elastin Williams Syndrome Chromosome Region (WSCR) probes (oncor) showed the hemizygous deletion of 7q11.23. Diagnosis of Williams syndrome can now be confidently confirmed with the help of FISH.

Child↗