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PubMed2002

Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients.

Multiple endocrine neoplasia (MEN) 2B is a hereditary syndrome including medullary thyroid carcinoma (MTC), pheochromocytoma, gastrointestinal (GI) disorders, marfanoid facies, and multiple ganglioneuromas. MTC is the major cause of mortality, and often appears during the 1st decade of life. RET proto-oncogene mutations are responsible for MEN 2B. Other RET mutations cause MEN 2A syndrome, familial MTC, or Hirschsprung's disease. We studied three MEN 2B patients with the aim of delineating the best diagnostic and therapeutic protocol. The gold standards for diagnosis are histochemical study of the rectal mucosa and molecular analysis of RET, which in familial cases detects MEN 2B at a preclinical stage so that early total prophylactic thyroidectomy can be performed. In non-familial cases, the diagnosis can be suggested by the presence of GI symptoms, ganglioneuromas, and/or the typical facies. The intestinal innervation pattern, analyzed with the acetylcholinesterase technique, is pathognomonic for MEN 2B. In our protocol a rectal biopsy is, therefore, the first measure. The surgical treatment of MEN 2B is total thyroidectomy with cervical lymphadenectomy of the central compartment of the neck. When possible, this intervention should be performed prophylactically before 1 year of age.

Adolescent↗
PubMed1982

The relation between nasorespiratory function and dentofacial morphology: a review.

It is commonly assumed that nasorespiratory function can exert a dramatic effect upon the development of the dentofacial complex. Specifically, it has been stated that chronic nasal obstruction leads to mouth breathing, which causes altered tongue and mandibular positions. If this occurs during a period of active growth, the outcome is development of the "adenoid facies" (dentofacial morphology). Such patients characteristically manifest a vertically long lower third facial height, narrow alar bases, lip incompetence, a long and narrow maxillary arch, and a greater than normal mandibular plane angle. These dentofacial traits have repeatedly been attributed to restricted nasorespiratory function. It is generally believed that environmental factors can exert subtle or dramatic effects upon dentofacial morphology, depending upon their magnitude, duration, and time of occurrence. The purpose of this article is to present a critical review of the literature concerning the effect of one such environmental factor, nasal airway function, upon dentofacial morphogenesis. This review will critically examine the most frequently cited papers reporting a relationship between nasorespiratory function and dentofacial morphology. In summary, this critical review fails to support a consistent relationship between obstructed nasorespiratory function and the adenoid facies or long-face syndrome. Additional objective evaluations of this relation are encouraged.

Adenoids↗
PubMed1995

Stable isotopic compositions of carbonates from the Mesoproterozoic Bangemall Group, northwestern Australia.

Marine carbonate rocks from the Mesoproterozoic Bangemall Group of northwestern Australia show little deviation (+/-1.3%) in whole-rock delta 13C(carb)-values about a mean of -0.5%. This narrow range persists despite close sampling (every 10-20 m) through long sections (up to 2500 m) that are geographically widespread (up to 250 km apart), over many depositional environments (supralittoral to outer shelf), sediment sources (stromatolitic bioherms to detrital calcilutites) and rock types (pure limestones to dolomitic shales). The only major excursions from the norm seem related to unusual environmental or post-depositional processes, as they are correlated with large enrichments (to -3%) or depletions (to -16%) in 18O. Relatively heavy delta 13C-values, up to +2.5%, occur in a single bed of brecciated ferruginous dolostone at a single locality; these abnormal values may result from local evaporitic conditions. Limey and shaley nodular dolostones have delta 13C-values as low as -4.3%, probably caused by remineralization of organic matter during late and patchy dolomitization. Most notably, sharp negative excursions in delta 13C, up to -8.4%, occur in bleached kerogen-free rocks with mineral assemblages of dolomite + quartz + calcite +/- tremolite + talc, reflecting isotopic re-equilibration in thick metamorphic aureoles around dolerite intrusions. General environmental variations are minor, with delta 13C-values of peritidal facies tending to be slightly positive whereas those of subtidal facies are slightly negative. There are no strong secular trends, but subtle fluctuations within the range -2 to +l% can be correlated along the northwestern margin of the basin. This resembles the pattern seen in other Mesoproterozoic successions, but is markedly unlike the heavy background (> +5%) and extreme variations (up to l0%) in delta 13C evident in Neoproterozoic successions of similar thickness and environmental setting. Hence, in contrast to the Neoproterozoic, the global rate of organic carbon burial was probably fairly constant during deposition of the Bangemall Group, and perhaps generally during the Mesoproterozoic, as was the redox state of the atmosphere and hydrosphere.

Calcium Carbonate↗
PubMed1992

The photochemistry of manganese and the origin of Banded Iron Formations.

The photochemical oxidation of Fe(2+) -hydroxide complexes dissolved in anoxic Precambrian oceans has been suggested as a mechanism to explain the deposition of Banded Iron Formations (BIFs). Photochemical studies have not yet addressed the low levels of manganese in many of these deposits, which probably precipitated from solutions bearing similar concentrations of Fe2+ and Mn2+. Depositional models must also explain the stratigraphic separation of iron and manganese ores in manganiferous BIFs. In this study, solutions containing 0.56 M NaCl and approximately 180 micromoles MnCl2 with or without 3 to 200 micromoles FeCl2 were irradiated with filtered and unfiltered UV light from a medium-pressure mercury-vapor lamp for up to 8 hours. The solutions were deaerated and buffered to pH approximately 7, and all experiments were conducted under O2-free (< 1 ppm) atmospheres. In experiments with NaCl + MnCl2, approximately 20% of the Mn2+ was oxidized and precipitated as birnessite in 8 hours. Manganese precipitation was only observed when light with lambda < 240 nm was used. In experiments with NaCl + MnCl2 + FeCl2, little manganese was lost from solution, while Fe2+ was rapidly oxidized to Fe3+ and precipitated as gamma-FeOOH or as amorphous ferric hydroxide. The Mn:Fe ratio of these precipitates was approximately 1:50, similar to the ratios observed in BIFs. A strong upper limit on the rate of manganese photo-oxidation during the Precambrian is estimated to be 0.1 mg cm-2 yr-1, a factor of 10(3) slower than the rate of iron photo-oxidation considered reasonable in BIF depositional basins. Thus, a photochemical model for the origin of oxide facies BIFs is consistent with field observations, although models that invoke molecular O2 as the oxidant of Fe2+ and Mn2+ are not precluded. Apparently, oxide facies BIFs could have formed under anoxic, as well as under mildly oxygenated atmospheres.

Earth, Planet↗
PubMed1983

Sialidosis type 2 in Japan. Clinical study in two siblings' cases and review of literature.

Clinical and biochemical findings in two siblings (24-year-old sister and 20-year-old brother), born to consanguineous parents, are described. Both showed progressive generalized myoclonus, macular cherry-red spots, moderate cerebellar ataxia, coarse facies, vertebral deformities, vacuolation of peripheral lymphocytes, bone marrow cells and epithelial cells of conjunctiva, but had normal intelligence. The excretion of sialyloligosaccharides in the urine of both was 3-5 times larger than in the controls. The activities of alpha-neuraminidase and beta-galactosidase in leukocytes and cultured skin fibroblasts were reduced. The clinical and biochemical findings were those of the newly described condition, sialidosis type 2. Review of all Japanese cases considered as sialidosis type 2 showed that the most characteristic clinical features as distinct from type 1, were coarse facies and bone deformities, especially of vertebral bodies.

Adult↗
PubMedDate not supplied

South American rattlesnake bite in a Brazilian teaching hospital. Clinical and epidemiological study of 87 cases, with analysis of factors predictive of renal failure.

Records of 87 victims of rattlesnake bite who were admitted to a teaching in south-eastern Brazil from 1984 to 1990 were retrospectively examined. The patients came from 27 municipalities in 3 states. Most of the bites (47%) occurred between 10.00 h and 18.00 h and in April (13%). Identification of the snake was possible in only 17% of the cases, diagnosis being made on clinical grounds in the others. The lower limbs were the most common site of bite (85%). The median time interval between bite and receiving medical help was 3 h. Fang marks were observed in 47% of the cases, neurotoxic facies in 61%, and myalgia in 29%. Dark urine was reported in 40% of the cases. Clotting time was above 15 min in 53% of the tested cases. Use of a tourniquet before admission to hospital was reported 11 times. The mean dose of specific antivenom was 190 +/- 95.69 mg. The case fatality rate was 1%; 13 cases (18%) developed renal failure, 10 of whom needed dialysis. The chi 2 test for trend showed that both increased age and increased time interval between bite and medical help significantly increased the risk of renal failure (P < 0.02). Myalgia and neurotoxic facies were predictive of renal failure in patients older than 40 years (Fisher's exact test, P < 0.002 and P < 0.02, respectively). There was no significant association between dark urine or prolonged clotting time and renal failure.

Acute Kidney Injury↗
PubMed1991

Coastal lithofacies and biofacies associated with syndepositional dolomitization and silicification (Draken Formation, Upper Riphean, Svalbard).

The Draken Formation (120-250 m) of northeast Spitsbergen (Svalbard) forms part of a thick Upper Proterozoic carbonate platform succession. It consists predominantly of intraformational dolomitic conglomerates, with excellent textural preservation. Six main lithofacies were recognized in the field: quartz sandstones, stromatolitic mats, conglomerates with silicified intraclasts, dolostone conglomerates with desiccated mudrocks, oolitic/pisolitic grainstones and fenestral dolostones. A series of five main gradational biofacies were recognized from silicified (and rare calcified) microfossils. Biofacies 1 represents low-energy subtidal benthos (erect filaments) and plankton (acritarchs and vase-shaped microfossils) whereas biofacies 2 to 5 are microbial mat assemblages (with filamentous mat-builders, and associated dwellers and washed-in plankton) ranging from basal intertidal to high intertidal/supratidal. Colour values (a measure of the lightness of the colour shade) of sawn rock samples were quantified using a Munsell chart, and exhibit a pronounced variation (means of major groups varying from 4.0 to 5.95) across the spectrum of subtidal to supratidal sediments as inferred from other criteria. The lightening in progressively more exposed sediments is related to lowering of organic carbon contents, probably mainly by oxidation. Six types of early cement have been recognized. Calcite microspar (type 1) is common as a subtidal cement in many Proterozoic formations, whereas types 2 (subtidal isopachous fringes), 3 (subtidal hardground dolomicrite) and 4 (intertidal meniscus dolomicrite) are very similar to Phanerozoic examples except for their dolomitic mineralogy. Types 5 and 6 are complex and variable dolomite growths associated with expansion and replacive phenomena. They characterize the fenestral lithofacies and compare with modern supratidal cements. Consideration of diagenetic fabrics and truncation textures of intraclasts indicates that leaching, dolomitization, silicification were all significant syndepositional processes altering the original metastable carbonates. The data set provides evidence for a spectrum of peritidal environments including ooid shoals, protected subtidal, tidal sandflats and protected carbonate mudflats. Different sections show a preponderance of particular facies. The coastal lithofacies continuum was completely dolomitized, unlike offshore to ooid shoal facies of adjacent formations. Dolomitization thus bears a relationship to depositional bathymetry. Although hydrodynamics clearly have a role, the potential importance of whiting precipitation in raising Mg/Ca in marginal marine environments is also stressed.

Animals↗
PubMed1999

Terminal Proterozoic mid-shelf benthic microbial mats in the Centralian Superbasin and their environmental significance.

A combined sedimentological and biogeochemical study has been conducted on several Terminal Proterozoic mid-shelf microbial mat facies from the Centralian Super-basin. Isotopic and organic geochemical analysis of the bitumen and kerogen indicated that two sources of organic matter from 'planktonic' and 'benthic microbial-mat' populations contributed to the sediment. The 'planktonic' source provided a suite of n-alkanes with C20, whereas, the 'benthic' source contributed an overlay of n-alkanes >C20 with a strong even preference, together with mid-chain methyl alkanes. Kerogen and biomarkers derived from the microbial mat were found to be depleted in 13C relative to planktonic material. Pyrite in the microbial mats was also found to be depleted in 34S compared to surrounding facies. The combination of these observations suggested that the mats may have been at least partly composed of sulfide oxidising bacteria. These organisms have specific environmental tolerances that set limits on palaeo-environment. Their requirement for oxygen indicates that the water column above the mid-shelf could not have been anoxic. Accordingly, from the results and age determinations reported here, it would appear that mid-shelf environments of the Centralian Superbasin of Australia were seeing significant levels of oxygen through the Ediacarian.

Alkanes↗
PubMed1990

Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea.

Geleophysic dysplasia is characterized by typical facies ("happy natured"), small hands and feet, short stature, hepatomegaly, and progressive cardiac disease. We describe five patients (two of whom are siblings) with this disorder and document its variable expressivity. The facies were strikingly similar with small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum. Behavior, development, and intelligence were normal. Growth delay was noticed during infancy, and the two patients who completed normal puberty had marked short stature (140 and 150 cm), with relatively lean body habitus. The hands and feet were small, with short, plump tubular bones and broad proximal phalanges, associated with marked limitation in motion of fingers and wrists. The liver was enlarged after the age of 3 years. Two patients had mild mitral and tricuspid valve stenosis and one had severe aortic stenosis. The most severely affected child died at 3 1/2 years of age of airway obstruction as a result of progressive tracheal narrowing. Lysosomal storage vacuoles were found in skin epithelial cells from three patients whose skin was examined, and in the tracheal mucosa, liver, cartilage and macrophages of the child who died. The basic defect of this autosomal recessive lysosomal storage disease remains to be determined.

Adolescent↗
PubMed1976

Chondrodysplasia punctata-23 cases of a mild and relatively common variety.

A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual appearance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients.

Adult↗
PubMed2000

Ordovician eunicid polychaetes of Estonia and surrounding areas: review of their distribution and diversification.

Scolecodonts, the jaws of polychaete worms, are common and diverse palynomorphs in the Ordovician rocks of Estonia and surrounding areas. Some 120 apparatus-based species representing about 40 genera have been recorded thus far. Relatively long stratigraphical ranges of the majority of species reflect a low rate of evolution of jawed polychaetes. However, some individual species, as well as structural changes in the assemblages, appear to be useful for stratigraphical purposes. Environmental events like those in the middle Caradoc and late Ashgill had some impact on polychaete faunas, but less than on several other groups. In order to study the spatial distribution of eunicids, faunas of particular intervals of the Ordovician were investigated. Quantitative analysis revealed that polychaete assemblages with a very consistent qualitative and quantitative composition were widespread over long distances within the belts of similar facies conditions in the Baltoscandian Palaeobasin. On the other hand, it appears that species of Ordovician jawed polychaetes were strongly influenced by particular facies, and accordingly well differentiated along the palaeobasin gradient. The decrease in diversity and abundance towards the deeper-water part of the palaeobasin indicates that the majority of Ordovician eunicids preferred relatively shallow-water conditions. The increase in differentiation of environments is accompanied by an increase in differentiation of polychaete assemblages.

Journal Article↗
PubMed1997

The importance of early diagnosis in multiple endocrine neoplasia III: report of a case with thyroid C-cell hyperplasia.

Multiple endocrine neoplasia III (MEN III), also known as MEN IIb or mucosal neuroma syndrome, can often be recognized at an early age by its typical facies, marfanoid habitus, and characteristic mucosal neuromas. These features are usually present before development of the more serious, life-threatening complications that consist of medullary thyroid carcinoma (MTC) and pheochromocytoma. MTC associated with MEN III is generally aggressive with early metastasis. Early diagnosis is therefore crucial so that patients can be appropriately monitored for thyroid cancer with prompt thyroidectomy when indicated. Occasionally, patients present with C-cell hyperplasia of the thyroid, the histologic precursor to MTC. We describe a 16-year-old boy with mucosal neuromas, the typical facies of MEN III, gastrointestinal ganglioneuromatosis, and C-cell hyperplasia of the thyroid gland. Prompt thyroidectomy was performed, averting the risk of malignant transformation. Early clinical recognition of MEN III is crucial, as timely intervention can prevent the high mortality associated with MTC and pheochromocytoma.

Adolescent↗
PubMed2001

Relationships between sea-bed radionuclide activities and some sedimentological variables.

Natural radionuclides (232Th, 226Ra, 40K) and 137Cs, coming from atmospheric radioactive fallout, have been measured in sea-bed sediments of the Bay of Cádiz (South Western Spain). In this report, multivariate analysis methods have been employed to study the relationships between the activities of the radionuclides and some sedimentological variables like granulometric facies, organic content and apparent density. The correlation functions found show that it is possible to determine, with a satisfactory degree of approximation, the granulometric facies of the sediments using only radiometric information.

Geologic Sediments↗
PubMed1998

Sex determination by discriminant analysis of patella measurements.

The authors have analyzed 80 skeletons (40 males and 40 females) from the collection at the Institute of Legal Medicine of the University of Bari belonging to a known contemporary Southern Italian population; time of death was around 1970 and ages ranged from 25 to 80 years. Seven measurements taken on 80 intact, undeformed right patellae (max height, max width, thickness, height and width of the external facies articularis, height and width of the internal facies articularis) were used to determine sex by multivariate discriminant analysis. One function associating two parameters (max width and thickness) obtained the highest value of correct sex determination with a rate of 83.3%; other functions showed a higher percentage of misclassification (up to 17.5%). This study tests the success rate of correct sex prediction based exclusively on patellar dimensions. The discriminant factors carried out by statistical analysis may aid the forensic anthropologist when no other human skeletal remains suitable for sex determination are available.

Adult↗
PubMed1998

Hypomelanosis of ITO. A study of 76 infantile cases.

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.

Alopecia↗
PubMed2001

Assessment of ground water vulnerability and its application to the development of protection strategy for the water supply aquifer in Owerri, Southeastern Nigeria.

Pollution vulnerability of the Owerri regional water supply aquifer was evaluated as a basis for developing appropriate protection strategy for the groundwater resource. The assessment was accomplished using Legrand, GOD, Siga and DRASTIC models. Techniques of the models generally involved parameters rating and point count systems, which are based on the evaluation of various parameter in relation to their capacity for enhancing or attenuating contaminants in the groundwater system. Field and laboratory evaluations of the parameters indicate that the Owerri area generally occupies a nearly, flat topography with a relatively high groundwater recharge. The area is underlain by predominantly sandy facies in the Northern area which grades into gravelly sequences towards the southwest. The Southeastern area is distinguished by thick clayey facies that thin westwards towards the Owerri metropolis. Effective hydraulic conductivity (Kz) in the downward direction ranges from 1.44 x 10(-3) to 5.6 x 10(-9) m s(-1); with the upper limits reflecting coarse sands and gravelly units. The amount of clay and clay-size particles in the sandy and gravelly units is negligible, suggesting that the sorptive capacity of the units is low. Depth to water table decreases southwards while hydraulic head gradients vary between 0.09 and 0.22. Groundwater occurs in unconfined conditions in most places except in the southeastern zone where it is semi-confined due to the presence of a clayey unit. The groundwater vulnerability map developed on the basis of the models and several other thematic maps shows that the Owerri metropolis and the southwest area of Owerri have high vulnerability, indicating groundwater pollution. The existing waste disposal sites in these sub-areas should be abandoned and rehabilitated to forstall further pollution of the groundwater system. Areas to the North and Southeast of Owerri have moderate and low vulnerabilities, respectively, indicating the relatively lower sensitivity of the groundwater system in the sub-areas to contamination. The lower sensitivity could further be matched with properly engineered sanitary landfills in the event of choice of sites, as an additional protective strategy for the groundwater system.

Agriculture↗
PubMed2004

Pliocene eclogite exhumation at plate tectonic rates in eastern Papua New Guinea.

As lithospheric plates are subducted, rocks are metamorphosed under high-pressure and ultrahigh-pressure conditions to produce eclogites and eclogite facies metamorphic rocks. Because chemical equilibrium is rarely fully achieved, eclogites may preserve in their distinctive mineral assemblages and textures a record of the pressures, temperatures and deformation the rock was subjected to during subduction and subsequent exhumation. Radioactive parent-daughter isotopic variations within minerals reveal the timing of these events. Here we present in situ zircon U/Pb ion microprobe data that dates the timing of eclogite facies metamorphism in eastern Papua New Guinea at 4.3 +/- 0.4 Myr ago, making this the youngest documented eclogite exposed at the Earth's surface. Eclogite exhumation from depths of approximately 75 km was extremely rapid and occurred at plate tectonic rates (cm yr(-1)). The eclogite was exhumed within a portion of the obliquely convergent Australian-Pacific plate boundary zone, in an extending region located west of the Woodlark basin sea floor spreading centre. Such rapid exhumation (> 1 cm yr(-1)) of high-pressure and, we infer, ultrahigh-pressure rocks is facilitated by extension within transient plate boundary zones associated with rapid oblique plate convergence.

Journal Article↗
PubMed1999

Tectonic Evolution of the Careón Ophiolite (Northwest Spain): A Remnant of Oceanic Lithosphere in the Variscan Belt.

Analysis of the Careón Unit in the Ordenes Complex (northwest Iberian Massif) has supplied relevant data concerning the existence of a Paleozoic oceanic lithosphere, probably related to the Rheic realm, and the early subduction-related events that were obscured along much of the Variscan belt by subsequent collision tectonics. The ophiolite consists of serpentinized harzburgite and dunite in the lower section and a crustal section made up of coarse-grained and pegmatitic gabbros. An Early Devonian zircon age (395+/-2 Ma, U-Pb) was obtained in a leucocratic gabbro. The whole section was intruded by numerous diabasic gabbro dikes. Convergence processes took place shortly afterward, giving rise to a mantle-rooted synthetic thrust system, with some coeval igneous activity. Garnet amphibolite, developed in metamorphic soles, was found discontinuously attached to the thrust fault. The soles graded downward to epidote-amphibolite facies metabasite and were partially retrogressed to greenschist facies conditions. Thermobarometric estimations carried out at a metamorphic sole (T approximately 650 degrees C; P approximately 11.5 kbar) suggested that imbrications developed in a subduction setting, and regional geology places this subduction in the context of an early Variscan accretionary wedge. Subduction and imbrication of oceanic lithosphere was followed by underthrusting of the Gondwana continental margin.

Journal Article↗