Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Crigler–Najjar syndrome type I by single-strand conformation polymorphism (SSCP)

Crigler–Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.     

Operator-splitting procedures for reactive transport and comparison of mass balance errors

Operator-splitting (OS) techniques are very attractive for numerical modelling of reactive transport, but they induce some errors. Considering reactive mass transport with reversible and irreversible reactions governed by a first-order rate law, we develop analytical solutions of the mass balance for the following operator-splitting schemes: standard sequential non-iterative (SNI), Strang-splitting SNI, standard sequential iterative (SI), extrapolating SI, and symmetric SI approaches. From these analytical solutions, the operator-splitting methods are compared with respect to mass balance errors and convergence rates independently of the techniques used for solving each operator. Dimensionless times, NOS, are defined. They control mass balance errors and convergence rates. The following order in terms of decreasing efficiency is proposed: symmetric SI, Strang-splitting SNI, standard SNI, extrapolating SI and standard SI schemes. The symmetric SI scheme does not induce any operator-splitting errors, the Strang-splitting SNI appears to be O(N2OS) accurate, and the other schemes are first-order accurate.     

A LANDSCAPE‐BASED APPROACH TO ESTIMATE RIPARIAN HYDROLOGICAL AND NITRATE REMOVAL FUNCTIONS1

ABSTRACT: This study evaluates a conceptual model developed for riparian zones in Ontario, Canada, that links landscape hydrogeological characteristics to riparian ground water hydrology and nitrate removal efficiency. Data from a range of riparian sites in the United States and Europe suggest that the riparian zone types identified in the model are consistent with patterns of riparian hydrology and nitrate flux and removal in many humid temperate landscapes. These data also support the view that a riparian width of less than 20 m is often sufficient for effective nitrate removal unless riparian sediments are coarse grained or nitrate transport occurs mainly in surface‐fed ground water seeps. This study assesses the possibility of using topographic, soil, surficial geology, and vegetation maps to determine landscape attributes linked by the model to riparian zone hydrological functioning and nitrate removal efficiency. Although mappable data can help in determining broad classes of riparian zones, field visits are necessary to determine non‐mappable riparian attributes such as seeps, organic horizons, and permeable sediment depth in the riparian zone. This research suggests that the conceptual model could be used for landscape management purposes in most temperate landscapes with minor modifications and that the hydrological component of the model could be adapted for contaminants other than nitrate.     

Evidence for a Neoproterozoic carbonate ramp on the northern edge of the Central African craton: relations with late Proterozoic intracratonic troughs

During Late Proterozoic times, the Archaean Central African craton was affected by trough faulting which led to the formation of grabens, the Sangha aulacogen being the main structure of this type in the studied area. This transverse basin connects with other basins on the northern and south-western borders of the craton. During the Cryogenian, this network of basins was filled with fluvio-deltaic and lacustrine periglacial deposits. The glacio-eustatic transgression in Neoproterozoic III (end-Proterozoic) times flooded extensive areas of shelf on the northern edge of the craton, leading to the development of carbonate sedimentation in a broad outer shelf environment associated with nearshore barriers and evaporitic lagoons. These facies are similar to those developed in the West Congolian Schisto-calcaire (shale-limestone) ramp succession. The North-Central African ramp succession (sediment slope) contains an example of tidal rhythmites in vertical accretion, which occurs beneath the barrier deposits on the subtidal outer shelf. Mathematical analysis of the bedding pattern yields a period of 29–30 days for the lunar month, a result which is in agreement with astrophysical evidence for this epoch (i.e. 650 Ma ago). Major subsidence and seismic activity on this gently sloping platform, associated with the proximity of the Sangha aulacogen, caused the triggering of carbonate turbidites and mass flow deposits. The proliferation of microbial mats under euphotic conditions on an extensive shelf led to the build-up of a carbonate platform. During early Neoproterozoic III times, the West Congolian and North-Central African ramps prograded northwards and southwards, respectively, into the Sangha aulacogen. The sea at that time was restricted to a long graben-like basin, while a remaining area of marine sedimentation persisted into the Palaeozoic. Thus the pattern of end-Proterozoic carbonate sedimentation on the borders of the Central African craton can be interpreted in terms of an overall gently sloping ramp model with progradation converging towards the Sangha aulacogen.     

Toxic dinoflagellates (Alexandrium fundyense and A. catenella) have minimal apparent effects on oyster hemocytes

The possible effect of Alexandrium spp. containing paralytic shellfish poisoning (PSP) toxins on the hemocytes of oysters was tested experimentally. In one trial, eastern oysters, Crassostrea virginica Gmelin, were exposed to bloom concentrations of the sympatric dinoflagellate, Alexandrium fundyense Balech, alone and in a mixture with a non-toxic diatom, Thalassiosira weissflogii (Grun) Fryxell et Hasle. Subsequently, another experiment exposed Pacific oysters, Crassostrea gigas Thunberg, to a mixed suspension of the sympatric, toxic species Alexandrium catenella (Whedon et Kofoid) Balech, with T. weissflogii. Measurements of numbers of oyster hemocytes, percentages of different cell types, and functions (phagocytosis, reactive oxygen species (ROS) production, and mortality) were made using flow-cytometry. During and after exposure, almost no significant effects of Alexandrium spp. upon hemocyte numbers, morphology, or functions were detected, despite observations of adductor-muscle paralysis in C. virginica and measured toxin accumulation in C. gigas. The only significant correlation found was between toxin accumulation at one temperature and higher numbers of circulating live and dead hemocytes in C. gigas. The PSP toxins are known to interfere specifically with sodium-channel function; therefore, the finding that the toxins had no effect on measured hemocyte functions suggests that sodium-channel physiology is not important in these hemocyte functions. Finally, because oysters were exposed to the living algae, not purified toxins, there was no evidence of bioactive compounds other than PSP toxins affecting hemocytes in the two species of Alexandrium studied.     

Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida

Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy. Prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells. In all cases reported hitherto, the prenatal diagnosis was established after the birth of a previous affected child. In contrast to these studies in pregnant multiparous women at risk for RCDP, we report on the first case of prenatal ultrasound diagnosis of RCDP at 19 weeks' gestation in a primigravida. In addition, a complex cardiac malformation associated with hypoplasia of the thymus (DiGeorge anomaly) is described.