bluuebunny/crossref_metadata_2025 huggingface dataset:
Particle tracking model of bimolecular reactive transport in porous media
Authors: Edery Yaniv , Scher Harvey , Berkowitz Brian
Published: July 2010

We use a particle tracking approach to analyze the dynamics that control bimolecular reactive transport (A + B → C) in porous media. Particle transitions are governed by spatial and temporal distributions to account for the transport within a continuous time random walk framework. Particle tracking simulations are compared to measurements from a laboratory experiment of bimolecular reactive transport in a constant flow field. The simulations capture the experimental sequence of evolving C particle profiles using a marginally Fickian temporal distribution to quantify the particle transitions. The first profile is a fit with the model parameters, and subsequent ones are predictions. The rate of production of reaction product C over time is found to follow a power law. At early times after the injection of A particles into a uniform distribution of B particles, the strong contact and reaction between A and B particles induces the formation of a spatial void between the reactants. At longer times, the production of C is nearly constant and depends on the fluctuations of velocities of reactant particles that can surmount the void. We probe the behavioral dependence of the A, B, and C spatial profiles on the spectra of velocity fluctuations of the reactants. The latter are generated by different temporal distributions, namely, a decaying exponential distribution, which is equivalent to advective‐dispersive (Fickian) transport, and the truncated power law with degrees of non‐Fickian behavior, which is characteristic of transport in heterogeneous media. We demonstrate that the C profile exhibits subtle dynamics because of competition between the dispersion (spreading of the plumes) of A and B and the (power law) production rate.
Wetting and energetics in nanoparticle etching of graphene
Authors: Datta Sujit S.
Published: July 2010

Molten metallic nanoparticles have recently been used to construct graphene nanostructures with crystallographic edges. The mechanism by which this happens, however, remains unclear. Here, we present a simple model that explains how a droplet can etch graphene. Two factors possibly contribute to this process: a difference between the equilibrium wettability of graphene and the substrate that supports it, or the large surface energy associated with the graphene edge. We calculate the etching velocities due to either of these factors and make testable predictions for evaluating the significance of each in graphene etching. This model is general and can be applied to other materials systems as well. As an example, we show how our model can be used to extend a current theory of droplet motion on binary semiconductor surfaces.
Energy barrier of proton transfer at ice surfaces
Authors: Moon Eui-Seong , Yoon Jinha , Kang Heon
Published: July 2010

We estimated the energy barrier of proton transfer on ice film surfaces through the measurement of the H/D exchange kinetics of H2O and D2O molecules. The isotopomeric populations of water molecules and hydronium ions on the surface were monitored by using the techniques of reactive ion scattering and low energy sputtering, respectively, along the progress of the H/D reaction. When hydronium ions were externally added onto an ice film at a temperature of 70 K, a proton was transferred from the hydronium ion mostly to an adjacent water molecule. The proton transfer distance and the H/D exchange rate increased as the temperature increased for 90–110 K. The activation energy of the proton transfer was estimated to be 10±3 kJ mol−1 on a polycrystalline ice film grown at 135 K. The existence of a substantial energy barrier for proton transfer on the ice surface agreed with proton stabilization at the surface. We also examined the H/D exchange reaction on a pure ice film surface at temperatures of 110–130 K. The activation energy of the reaction was estimated to be 17±4 kJ mol−1, which was contributed from the ion pair formation and proton transfer processes on the surface.
High capacity and excellent cycling stability of branched cobalt oxide nanowires as Li-insertion materials
Authors: Li Cheng Chao , Yin Xiao Ming , Chen Li Bao , Li Qiu Hong , Wang Tai Hong
Published: July 2010

In this paper, the authors report the high-performance lithium storage properties of branched cobalt oxide nanowires synthesized through a topotactic conversion route. Compared with other nanosized materials, such branched nanostructures not only inherit the advantages of high surface-to-volume ratio and good dispersion but also show better electronic contact and conduction between nanobuilding units. Both features facilitate charge transport and insertion/extraction of Li ions and lead to higher capacity and better cycling stability compared with other transition metal oxide nanomaterials. Under the condition of high current density of 100 mA/g, the reversible capacity after 50 cycles is up to 1043 mAhg−1 with an average fading rate of 0.15% per cycle.
RepMaestro: scalable repeat detection on disk-based genome sequences
Authors: Askitis Nikolas , Sinha Ranjan
Published: July 2010

Motivation: We investigate the problem of exact repeat detection on large genomic sequences. Most existing approaches based on suffix trees and suffix arrays (SAs) are limited either to small sequences or those that are memory resident. We introduce RepMaestro, a software that adapts existing in-memory-enhanced SA algorithms to enable them to scale efficiently to large sequences that are disk resident. Supermaximal repeats, maximal unique matches (MuMs) and pairwise branching tandem repeats have been used to demonstrate the practicality of our approach; the first such study to use an enhanced SA to detect these repeats in large genome sequences.

Results: The detection of supermaximal repeats was observed to be up to two times faster than Vmatch, but more importantly, was shown to scale efficiently to large genome sequences that Vmatch could not process due to memory constraints (4 GB). Similar results were observed for the detection of MuMs, with RepMaestro shown to scale well and also perform up to six times faster than Vmatch. For tandem repeats, RepMaestro was found to be slower but could nonetheless scale to large disk-resident sequences. These results are a significant advance in the quest of scalable repeat detection.

Software availability: RepMaestro is available at http://www.naskitis.com

Contact:  askitisn@gmail.com; sinhar@unimelb.edu.au

Supplementary information:  Supplementary data are available at Bioinformatics online.
Use of the Edinburgh geoparser for georeferencing digitized historical collections
Authors: Grover Claire , Tobin Richard , Byrne Kate , Woollard Matthew , Reid James , Dunn Stuart , Ball Julian
Published: July 2010

We report on two JISC-funded projects that aimed to enrich the metadata of digitized historical collections with georeferences and other information automatically computed using geoparsing and related information extraction technologies. Understanding location is a critical part of any historical research, and the nature of the collections makes them an interesting case study for testing automated methodologies for extracting content. The two projects (GeoDigRef and Embedding GeoCrossWalk) have looked at how automatic georeferencing of resources might be useful in developing improved geographical search capacities across collections. In this paper, we describe the work that was undertaken to configure the geoparser for the collections as well as the evaluations that were performed.
Deploying general-purpose virtual research environments for humanities research
Authors: Blanke Tobias , Candela Leonardo , Hedges Mark , Priddy Mike , Simeoni Fabio
Published: July 2010

Several virtual research environments (VREs) have been developed to address specific tasks or application domains. Building on the experiences and use cases coming out of these projects, this paper addresses the creation of more general-purpose VREs for the humanities, which move beyond specific, focused tasks, and instead provide services and environments that support more general-purpose humanities research activities. Specifically, we are investigating use cases related to the organization and integration of the dispersed and heterogeneous information on which such research is based. These use cases are highly interactive, interpretative and researcher centric, addressing topics such as annotation environments and support for ‘active-reading’ processes and scholarly dialogues. We present the background to our work and the technical approach taken, and report the results obtained so far.
Variation under domestication in plants: 1859 and today
Authors: Brown Anthony H. D.
Published: July 2010

Charles Darwin beganThe Origin of Specieswith a chapter entitled variation under domestication, which encapsulated decades of his research on a diverse array of animal and plant domesticated species. Variation in these species compared with that in their wild relatives, their origins and their selection by humans, formed a paradigm for his theory of the evolutionary origin of species by means of natural selection. This chapter, its subsequent expansion into a two-volume monograph, together with the rediscovery of Mendel's laws, later became the foundation of scientific plant breeding. In the period up to the present, several advances in genetics (such as artificial mutation, polyploidy, adaptation and genetic markers) have amplified the discipline with concepts and questions, the seeds of which are in Darwin's original words. Today, we are witnessing a flowering of genomic research into the process of domestication itself, particularly the specific major and minor genes involved. In one striking way, our view of domestic diversity contrasts with that in Darwin's writing. He stressed the abundance of diversity and the diversifying power of artificial selection, whereas we are concerned about dwindling genetic diversity that attends modern agriculture and development. In this context, it is paramount to strive for a deeper understanding of how farmer selection including both deliberate selection and unconscious selection, might generate and retain diversity. This knowledge is essential for devisingin situconservation measures.
Detecting positive selection within genomes: the problem of biased gene conversion
Authors: Ratnakumar Abhirami , Mousset Sylvain , Glémin Sylvain , Berglund Jonas , Galtier Nicolas , Duret Laurent , Webster Matthew T.
Published: July 2010

The identification of loci influenced by positive selection is a major goal of evolutionary genetics. A popular approach is to perform scans of alignments on a genome-wide scale in order to find regions evolving at accelerated rates on a particular branch of a phylogenetic tree. However, positive selection is not the only process that can lead to accelerated evolution. Notably, GC-biased gene conversion (gBGC) is a recombination-associated process that results in the biased fixation of G and C nucleotides. This process can potentially generate bursts of nucleotide substitutions within hotspots of meiotic recombination. Here, we analyse the results of a scan for positive selection on genes on branches across the primate phylogeny. We show that genes identified as targets of positive selection have a significant tendency to exhibit the genomic signature of gBGC. Using a maximum-likelihood framework, we estimate that more than 20 per cent of cases of significantly elevated non-synonymous to synonymous substitution rates ratio (
d
N
/
d
S
), particularly in shorter branches, could be due to gBGC. We demonstrate that in some cases, gBGC can lead to very high
d
N
/
d
S
(more than 2). Our results indicate that gBGC significantly affects the evolution of coding sequences in primates, often leading to patterns of evolution that can be mistaken for positive selection.
Natural selection and the genetics of adaptation in threespine stickleback
Authors: Schluter Dolph , Marchinko Kerry B. , Barrett R. D. H. , Rogers Sean M.
Published: July 2010

Growing knowledge of the molecular basis of adaptation in wild populations is expanding the study of natural selection. We summarize ongoing efforts to infer three aspects of natural selection—mechanism, form and history—from the genetics of adaptive evolution in threespine stickleback that colonized freshwater after the last ice age. We tested a mechanism of selection for reduced bony armour in freshwater by tracking genotype and allele frequency changes at an underlying major locus (Ectodysplasin) in transplanted stickleback populations. We inferred disruptive selection on genotypes at the same locus in a population polymorphic for bony armour. Finally, we compared the distribution of phenotypic effect sizes of genes underlying changes in body shape with that predicted by models of adaptive peak shifts following colonization of freshwater. Studies of the effects of selection on genes complement efforts to identify the molecular basis of adaptive differences, and improve our understanding of phenotypic evolution.
Experimental evolution of viruses: Microviridae as a model system
Authors: Wichman Holly A. , Brown Celeste J.
Published: July 2010

φX174 was developed as a model system for experimental studies of evolution because of its small genome size and ease of cultivation. It has been used extensively to address statistical questions about the dynamics of adaptive evolution. Molecular changes seen during experimental evolution of φX174 under a variety of conditions were compiled from 10 experiments comprising 58 lineages, where whole genomes were sequenced. A total of 667 substitutions was seen. Parallel evolution was rampant, with over 50 per cent of substitutions occurring at sites with three or more events. Comparisons of experimentally evolved sites to variation seen among wild phage suggest that at least some of the adaptive mechanisms seen in the laboratory are relevant to adaptation in nature. Elucidation of these mechanisms is aided by the availability of capsid and pro-capsid structures for φX174 and builds on years of genetic studies of the phage life history.
Genetic linkage and natural selection
Authors: Barton N. H.
Published: July 2010

The prevalence of recombination in eukaryotes poses one of the most puzzling questions in biology. The most compelling general explanation is that recombination facilitates selection by breaking down the negative associations generated by random drift (i.e. Hill–Robertson interference, HRI). I classify the effects of HRI owing to: deleterious mutation, balancing selection and selective sweeps on: neutral diversity, rates of adaptation and the mutation load. These effects are mediated primarily by the density of deleterious mutations and of selective sweeps. Sequence polymorphism and divergence suggest that these rates may be high enough to cause significant interference even in genomic regions of high recombination. However, neither seems able to generate enough variance in fitness to select strongly for high rates of recombination. It is plausible that spatial and temporal fluctuations in selection generate much more fitness variance, and hence selection for recombination, than can be explained by uniformly deleterious mutations or species-wide selective sweeps.
Preventive effects of various types of footwear and cleaning methods on dermatophyte adhesion
Authors: TANAKA Kumi , KATOH Takuro , IRIMAJIRI Junya , TANIGUCHI Hiroko , YOKOZEKI Hiroo
Published: July 2010

Tinea pedis is contagious and typically spreads from infected to non‐infected persons. The purpose of this study was to evaluate the efficacy of footwear in preventing tinea pedis adhesion. Using the stamp culture method, we investigated the effectiveness of preventing dermatophyte passage by the wearing of stockings made of nylon, socks made of cotton and tabi (Japanese socks), as well as the effect of removing dermatophytes from these items by washing with soap, cold water and cold water after turning inside‐out. For sandals, sneakers and boots, we also investigated the effect of dermatophyte removal by pouring cold water into the footwear, wiping with a wet towel, and pouring boiling water into the footwear. The wearing of socks or tabi was effective in preventing passage of dermatophytes. The stocking material proved to be too thin to prevent passage. On the inner side of socks (the side of the sole ), all treatments were effective at removing dermatophytes, but on the outer side of socks (the side touching the surface of the sandals ), the treatment of washing in cold water after turning inside‐out resulted in significantly more dermatophytes as compared with the other treatments. Pouring cold water, wiping with a wet towel and pouring boiling water were all effective for removing dermatophytes from sandals and sneakers. However, for boots, the treatment of pouring cold water was less effective. To prevent the adhesion of dermatophytes to sandals, wearing socks or tabi was effective, and the treatments of washing socks in cold water after turning inside‐out and of pouring cold water into the boots were less effective than the others.
High genetic diversity in French invasive populations of common ragweed, Ambrosia artemisiifolia, as a result of multiple sources of introduction
Authors: GENTON B. J. , SHYKOFF J. A. , GIRAUD T.
Published: July 2010

Ambrosia artemisiifolia is an aggressive North American annual weed, found particularly in sunflower and corn fields. Besides its economic impact on crop yield, it represents a major health problem because of its strongly allergenic pollen. Ragweed was imported inadvertently to Europe in the 18th century and has become invasive in several countries, notably in the Rhône Valley of France. It has recently expanded in both the Provence‐Alpes‐Côte‐d’Azur and Bourgogne regions. As first steps towards understanding the causes and mechanisms of ragweed invasion, genetic variability of French and North American populations was analysed using microsatellites. Overall genetic variability was similar in North America and in the Rhône‐Alpes region, but within‐population levels of genetic variability were surprisingly lower in native than in invasive French populations. French populations also exhibited lower among‐population differentiation. A significant pattern of isolation by distance was detected among North American populations but not among French populations. Assignment tests and distribution of rare alleles did not point to a single origin for all French populations, nor for all individuals within populations and private alleles from different North American populations were found in the same French populations. Indeed, within all French populations, individual plants were roughly equally assigned to the different North American populations. Altogether, these results suggest that the French invasive populations include plants from a mixture of sources. Reduced diversity in populations distant from the original area of introduction indicated that ragweed range expansion probably occurred through sequential bottlenecks from the original populations, and not from subsequent new introductions.
Sequence diversity of the MHC DRB gene in the Eurasian beaver (Castor fiber)
Authors: BABIK W. , DURKA W. , RADWAN J.
Published: July 2010

Major histocompatibility complex (MHC) genes, coding molecules which play an important role in immune response, are the most polymorphic genes known in vertebrates. However, MHC polymorphism in some species is limited. MHC monomorphism at several MHC class I and II loci was previously reported for two neighbouring northern European populations of the Eurasian beaver (Castor fiber) and reduced selection for polymorphism has been hypothesized. Here, we analysed a partial sequence of the second exon of the MHC II DRB locus from seven relict European and Asian beaver populations. We detected 10 unique alleles among 76 beavers analysed. Only a western Siberian population was polymorphic, with four alleles detected in 10 individuals. Each of the remaining populations was fixed for a different allele. Sequences showed considerable divergence, suggesting the long persistence of allelic lineages. A significant excess of nonsynonymous substitutions was detected at the antigen binding sites, indicating that sequence evolution of beaver DRB was driven by positive selection. Current MHC monomorphism in the majority of populations may be the result of the superimposition of the recent bottleneck on pre‐existing genetic structure resulting from population subdivision and differential pathogen pressure.
Recall dermatitis after systemic treatment with paclitaxel
Authors: Kazandjieva Jana , Gergovska Malena , Darlenski Razvigor , Márina Sonja , Broshtilova Valentina , Balabanova Maria , Stransky Ljubomir
Published: July 2010

Background  Recall phenomena of the skin at the site of prior radiation treatment are well established after systemic anti‐neoplastic therapy. The aim of this report is to describe a rare clinical entity of recall dermatitis after systemic treatment with paclitaxel without a history of previous radiation at the site of reaction.

Material and methods  A 63‐year‐old Caucasian female patient treated with paclitaxel because of breast cancer (T3 N1 M0) is presented.

Results  Five days after the fifth‐in‐a‐row infusion swelling and redness occurred on the left arm, where the drug has been administered. The skin changes were interpreted as erysipelas and the patient was treated with systemic antibiotic. One month later, when a new cycle of chemotherapy with paclitaxel was performed, the medication was administered on the opposite (right) arm. Several days after the procedure, the same changes occurred again on the left arm, as in the previous hospitalization. Based on the clinical features and the laboratory findings, diagnosis of “recall dermatitis” was coined. The presented case serves as a basis for discussion on the etiopathogenetic mechanism of the skin recall phenomenon. The drugs associated with the onset of such a reaction are debated.

Conclusion  The specificity of this rare dermatological entity is important for setting up the exact diagnosis and therapeutic approach.
Aquatic sports dermatoses: Part 1. In the Water: Freshwater Dermatoses
Authors: Tlougan Brook E. , Podjasek Joshua O. , Adams Brian B.
Published: July 2010

The first of this three‐part series on water‐related dermatoses involving the athlete will include sports occurring with the majority of time spent in the water. These sports include swimming, diving, scuba, snorkeling and water polo. Numerous authors have described dermatologic conditions commonly seen in swimmers. This series provides an updated and comprehensive review of these water dermatoses. In order to organize the vast number of skin conditions related to water exposure, we divided the skin conditions into groupings of infectious and organism‐related dermatoses, irritant and allergic dermatoses and miscellaneous dermatoses. The vast majority of skin conditions involving the water athlete result from chemicals and microbes inhabiting each environment. When considering the effects of swimming on one’s skin, it is also useful to differentiate between exposure to freshwater (lakes, ponds and swimming pools) and exposure to saltwater. This review will serve as a guide for dermatologists, sports medicine physicians and other medical practitioners in recognition and treatment of these conditions.
Amniotic fluid cell culture
Authors: Felix J. S. , Doherty R. A.
Published: July 2010

Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride to lyse contaminating red blood cells has been recommended to increase culture success.

In this report we document that cultures derived from blood‐contaminated amniotic fluids form fewer cell colonies than cultures from clear amniotic fluids. We also show that a recommended procedure using ammonium chloride to lyse red blood cells is ineffectual in improving the efficiency of cell culture, and may be detrimental to successful culturing of cells from bloody amniotic fluids.

A hypothesis concerning the mechanism of interference with culture of amniotic fluid cells by contaminating blood is presented and a means of preventing this complication is suggested.
Familial occurrence of syngnathia congenita syndrome
Authors: Gassner I. , Müller W. , Rössler H. , Kofler J. , Mitterstieler G.
Published: July 2010

A case of familial occurrence of syngnathia congenita in mother and child is described; this syndrome has been seen only sporadically until now. Due to the distinct appearance of the intraoral chords ‐ they were situated on both sides between the ridges of the jaw and also between the left half of the bifid uvula and the retrolingual region ‐ a relationship to the autosomal‐dominantly transmitted Cleft Palate Lateral Synechiae Syndrome (CPLS‐Syndrome) is suspected.

Complete penetrance with different expressivity may explain the different clinical manifestations of the cases seen up to now and the absence of bifid uvula in the mother of our patient. The probable pathogenesis during embryological development is discussed.
A supernumerary “G” like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl
Authors: Wang Hungshu , Hunter Alasdair G. W.
Published: July 2010

This paper describes a retarded girl who had a severe seizure disorder and a few minor anomalies, and who was found to have a “G‐sized” supernumerary chromosome in all her cells which were examined. Studies of the patient's and her parents' chromosomes by a variety of techniques suggest that the supernumerary chromosome arose following a prezygotic maternal 13;15 translocation.
Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair
Authors: Halley D. J. J. , Keijzer W. , Jaspers N. G. J. , Niermeuer M. F. , Rleijer W. J. , Boué J. , Boué A. , Bootsma D.
Published: July 2010

The analysis of DNA repair processes is described in two pregnancies at risk for xeroderma pigmentosum. In both cases, excision repair (measured by unscheduled DNA synthesis) and postreplication repair were analyzed. An affected and an unaffected fetus were identified within 3 weeks after amniocentesis. The cells from the affected fetus were found to be deficient in excision DNA repair, whereas the PRR patterns were intermediate between those of normal and PRR deficient cells. This indicates the possibility of prenatal diagnosis of PRR deficient XP patients (XP variants).
Absent ulna in the Klippel‐Feil syndrome: an unusual associated malformation
Authors: Chemke J. , Nisani R. , Fischel R. E.
Published: July 2010

A patient is reported with a severe type 2 Klippel‐Feil syndrome, and absent ulna and ulnar ray. The severity of the musculo‐skeletal involvement did not allow for corrective procedures. This uncommon association of skeletal malformations has not been previously reported. Since this syndrome has been described in families as a possible autosomal recessive trait, a 25 % recurrence risk and the possibility of prenatal detection by fetal visualization methods should be taken into consideration.
The calculation of genetic risks in X‐linked recessive conditions using programmable calculators
Authors: Winter R. M.
Published: July 2010

A scheme is proposed for the analysis of X‐linked recessive pedigrees using programmable calculators. The analysis of such pedigrees is reduced to two easily programmable operations that can be used by the counsellor in a step‐wise fashion, entering the pedigree information sequentially. It is envisaged that programmable calculators could be a useful tool in general and specialised genetic counselling clinics.
A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded
Authors: Kondo Ikuko , Hamaguchi Hideo , Nakajima Susumu , Haneda Tadashi
Published: July 2010

A cytogenetic survey was carried out on 449 patients (261 males and 188 females) in an institution for the mentally retarded in Japan. A total of 37 patients (8.1 %) were shown to have chromosome abnormalities. There were 33 individuals (7.3 %) with 21 trisomy. In addition, we found one patient with 46,XY/47,XY, + 12p, one with 46, XY, r(22), and one with 45, XY, ‐13, ‐14,+t(13q14q). Only one female was found to have an abnormal sex chromosome constitution, 47, XXX. The significant contribution of chromosome abnormalities in the etiology of mental retardation is also shown in the present survey. The most common chromosome abnormality was 21 trisomy, as seen in other similar surveys.
Detection of HLA antigens on progeria syndrome fibroblasts
Authors: Brown W. Ted , Darlington Gretchen J. , Arnold Angelo , Fotino Mawena
Published: July 2010

It has been suggested that cultured skin fibroblasts derived from patients with progeria, a premature aging syndrome, have absent or markedly reduced HLA antigen expression, thus implicating a possible immunological role in the pathogenesis of this disease. An analysis of HLA expression in nine progeric fibroblast strains and related familial strains is reported. Normal HLA expression and inheritance were found. No significant association between HLA type and progeria was detected. Therefore, we conclude an abnormality of HLA expression is unlikely to be an underlying defect in progeria.
A rare case of mosaic Down syndrome 46,XY/46,XY, ‐21, +i(21q)
Authors: Uchida Irene A. , Whelan Donald T.
Published: July 2010

Detailed studies were carried out on a patient with a rare type of mosaicism which gave rise to an effective 21 trisomy. The clinical signs of Down syndrome were minimal. The cytogenetic interpretation is that the abnormal clone had an isochromosome derived from a maternal No. 21. The normal cell line appears to be replacing the abnormal clone.
Apparently changing patterns of inheritance in Alport's hereditary nephritis: Genetic heterogeneity versus altered diagnostic criteria
Authors: Evans Sarah Helen , Erickson Robert P. , Kelsch Robert , Peirce John C.
Published: July 2010

With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non‐Alport's hereditary nephritis fit sex‐linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see if this hypothesis would be confirmed. We found one small pedigree which definitely shows male‐to‐male transmission, while one large pedigree is tentatively compatible with sex‐linked dominant inheritance. Many of the other pedigrees suggested male‐to‐male transmission. This Michigan experience is compared to other published reports and found to be consistent, although a trend of fewer reports of male‐to‐male transmission is seen. We conclude that genetic heterogeneity of Alport's hereditary nephritis is likely.
Cardiac involvement in the Cohen syndrome: A case report
Authors: Sack J. , Friedman E.
Published: July 2010

The Cohen Syndrome is a rare genetic disorder consisting of obesity, mental retardation, limb abnormalities and characteristic craniofacial appearance. Of the seven previously reported patients, none had any cardio‐vascular involvement. This report describes an affected Jewish female, who, in addition to the usual malformations, has a floppy mitral valve.
Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family
Authors: Smith Arabella , Elliott Gae
Published: July 2010

The proband in this family has translocation Down's Syndrome 46, XX, t(14;21)(pll;qll), and this translocation was present in other family members. Sex chromosome mosaicism was demonstrated in three generations of the family, providing another example of familial mosaicism. There was also excessive foetal wastage in different family members. It was not possible to assign one common aetiological factor to account for these various abnormalities. Dermatoglyphic studies showed dominant inheritance of finger‐tip arch patterns in one branch of the family.
The Wolf‐Hirschhorn syndrome
Authors: Lurie I. W. , Lazjuk G. I. , Usaova Y. I. , Presman E. B. , Gurevich D. B.
Published: July 2010

Four new cases of the Wolf‐Hirschhorn syndrome are presented, two of which were due to t(4;22)mat. Review of the literature (more than 100 cases of the Wolf‐Hirschhorn syndrome) showed that 13 % of all the reported cases were not mutations but segregations of parental chromosomal aberrations, primarily translocations. Similar data were obtained previously for other deletions (5p‐, 18p‐, 18q ‐). Analysis of data on some “new” deletion syndromes (4q ‐, 8p‐, 9p‐, 10p‐, 11p ‐, 11q ‐) revealed that 14.5% were inherited cases. Thus, all human autosomal deletions have virtually the same genetic pattern.
Risk factors associated with neural tube defects
Authors: McCormack Michael K. , Breslin Nancy , Coppola‐McCormack Patricia J.
Published: July 2010

Spina bifida represents a broad category of neural tube defects (NTD) which affects approximately 1–4/1,000 live births. Since effective prenatal diagnostic testing for 90 % of NTD is available through measurement of alpha‐fetoprotein (AFP) in amniotic fluid, ascertainment of high risk factors associated with the occurrence of NTD would be both desirable and important. At the present time, generally, the major indication for prenatal testing for NTD is the presence of a first‐degree relative with some form of NTD. To date, few other factors have been utilized to identify a family as “at risk”.

We have studied a group of 19 families of 10 female and 9 male index cases with NTD. The parents of each index case were interviewed and pedigrees were prepared on each family. Conditions screened for in these families included spina bifida and other NTD, pilonidal cysts, scoliosis, kyphosis and other vertebral disorders which were hypothesized to be possibly related to NTD. There were 58 first‐, 171 second‐, and 802 third‐degree relatives screened in this study. This sample population was similarly characteristic with regard to sex, maternal age and birth order distributions as compared to previous populations of NTD described and was therefore considered to be representative. Our results indicate that: (1) pilonidal cysts are 6 times more frequent in the fathers and twice as frequent in the mothers of children with spina bifida than in the general population;

These preliminary studies suggest that several minor clinical conditions in parents may be important to consider as possible risk signs suggesting couples be considered for prenatal evaluation for the prevention of NTD.
Kleeblattschadel anomaly and partial trisomy for chromosome 13 (47,XY,+der(13),t(3,13)(q24;
Authors: McCorquodale M. , Erickson R. P. , Robinson M. , Roszczipka K.
Published: July 2010

This paper reports a case of partial trisomy involving the proximal segment of the long arm of chromosome 13. Kleeblattschädel anomaly was one of the many anomalies found in conjunction with this syndrome. The cytogenetic classification of the extra partial chrommome was based on trypsin‐giemsa banding patterns and a paternal translocation involving chromosomes 3 and 13.
Elimination of an abnormal cell line from blood lymphocytes during post‐natal growth
Authors: Fitzgerald Peter H. , Mercer Jan M.
Published: July 2010

A cell line carrying an additional metacentric chromosome of unknown origin was present in PHA‐stimulated blood lymphocytes from a newborn female. The child had no marked physical or developmental abnormality but was small. The abnormal cell line, present in 20 % of blood cells at birth, progressively decreased and was absent by 16 months. Loss of the cell line appeared to involve a process of elimination rather than a chance event.
HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency
Authors: Pollack MarilynS. , Ochs HansD. , Dupont Bo
Published: July 2010

It has recently been reported that HLA typing can be used for the prenatal diagnosis of the HLA‐linked monogenetic disease, congenital adrenal hyperplasia (21‐hydroxylase deficiency type). We describe here the use of HLA typing of cultured amniotic cells for the prenatal diagnosis of another HLA‐linked disease, complement C4 deficiency. Although C4 is actually coded for by genes at two very closely linked loci, mapping near the HLA‐B locus, absolute C4 deficiency behaves genetically like a monogenetic autosomal recessive disease linked to HLA. The HLA typing results for amniotic cells from a pregnancy at risk for C4 deficiency predicted that the fetus would share only one HLA haplotype with the affected child and would therefore be a clinically normal heterozygous carrier of the C4 deficiency alleles with half‐normal levels of C4 activity. These predictions were confirmed after delivery.
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case
Authors: Winter RobinM. , Swallow DallasM. , Baraitser Michael , Purkiss Paul
Published: July 2010

A further patient with a presumed primary deficiency of sialidase iV‐acetylneuraminic acid hydrolase EC 3.2.1.18) is described. Clinically the patient falls into the sialidosis type 2 category of the recent classification of Lowden & O'Brien (1979), i.e. he manifests coarse facies, mental retardation and skeletal changes of dysostosis multiplex as well as myoclonus and a cherry‐red spot at the macula. Sialidase activity in fibroblasts was 4 % of control values using a methylumbelliferone substrate. The father of the patient was found to have 50 % activity. Abnormal amounts of sialyloligosaccharides were found in the urine. The electrophoretic mobility of known glycosylated enzymes and proteins was found to be altered (more anodal than usual), but could be corrected by incubation of the cell extracts with bacterial neuraminidase. The relationship of the present patient to the Lowden & O'Brien classification is discussed.
A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation
Authors: Goodman Charles , O'Brien JohnS.
Published: July 2010

We have found heat inactivation of leukocyte 4‐methylumbelliferyl‐β‐D‐glucosidase to be useful in identifying heterozygotes for adult (chronic) Gaucher's disease. The overlap between high heterozygote values and low normal values is reduced by the heat inactivation step, compared to assays without heating; that is from an overlap of 23 % to 6 %. Although preliminary, our results indicate that this procedure may be useful in families with adult (chronic) Gaucher's disease.
Amniotic fluid secretor typing: Validation for use in prenatal prediction of myotonic dystrophy
Authors: Teichler‐Zallen Doris , Doherty RichardA.
Published: July 2010

Use of the well‐established linkage of the secretor locus (Se) to the myotonic dystrophy locus (Dm)as an indirect means for prenatal prediction of myotonic dystrophy requires that the phenotypic expression of the fetal secretor locus be accurately and reliably assessed in amniotic fluid. Secretor status determinations on 89 amniotic fluids obtained by second trimester amniocentesis were compared with results of postnatal secretor typing of saliva samples collected from the resulting 89 offspring. The secretor types of the paired amniotic fluid‐saliva samples were in agreement in all cases. The only unusual typing result was on an amniotic fluid from a blood group O secretor fetus in which the level of soluble H antigen was estimated to be about one‐third that observed for other H secretors. Though it is possible that rare secretor fetuses with very low titers of soluble antigen at the time of amniocentesis could be mistyped as non‐secretors, our results indicate that such an erroneous typing result would only occur in about 1–2 % of all amniotic fluids tested. Constructed mixtures of 10 % heparinized blood in non‐secretor amniotic fluid or of 10 % serum in amniotic fluid derived from secretor fetuses did not introduce sufficient levels of soluble antigen or of antibody to interfere with accurate secretor typing, thus providing reassurance that maternal and/or fetal blood contamination of amniotic fluid does not compromise accuracy of fetal secretor typing. This study documents the accuracy and reliability of amniotic fluid secretor typing for prenatal prediction of fetal risk for later development of myotonic muscular dystrophy.
Frequency of XYY males in Wisconsin State correctional institutions
Authors: Daly Richard F. , Harley J. Preston
Published: July 2010

Karyotyping of 3011 males at five Wisconsin state correctional institutions revealed that 1 % had a chromosome abnormality. The frequency of occurrence of the XYY complement was about 5 times that for newborn males. Approximately the same rate was found among 2556 males in the three penal institutions for adults. The frequency of XYY at the institution for juvenile offenders was about ten times background. The relatively low frequency of XYY (0.38 %) found at the mental‐penal institution may have been due to previous sampling done there. Of the 16 XYY males discovered, only two were below the 85th percentile for height. A relatively low frequency of XYY was found among black males. Our data contradict the notion that a high rate for XYY among adult males in penal settings may be due to a disproportionately large number of tall men in prisons.
Bloom's syndrome in a Japanese boy with lymphoma
Authors: Arase Seiji , Takahashi Osamu , Ishizaki Kanji , Takebe Hiraku
Published: July 2010

A 14‐year‐old boy with malignant lymphoma was identified as having Bloom's syndrome after he was shown to display a characteristically elevated frequency of spontaneous sister‐chromatid exchanges. Frequencies of sister‐chromatid exchanges per nucleus were 80.7 in blood lymphocytes and 29.9 in dermal fibroblasts. Clinical features, although suggestive of Bloom's syndrome, were not clear enough to permit the diagnosis. This is the first confirmed case of this rare genetic disorder in Japan, and in Asia.
Langer‐Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13–22)
Authors: Pfeiffer R. A.
Published: July 2010

Deletion of the long arm of chromosome 8 was found in a mentally retarded boy with typical features of the Langer‐Giedion syndrome (TRP syndrome type II). Additional malformations were colobomata of the iris and partial syndactyly of the 4th and 5th fingers.
Familial occurrence of trophoblastic disease ‐ report of recurrent molar pregnancies in sisters in three families
Authors: Ambani L. M. , Vaidya R. A. , Rao C. S. , Daftary S. D. , Motashaw N. D.
Published: July 2010

Three families are described in which trophoblastic disease occurred in one or more pregnancies in two or more sisters. The possible role of genetic factors in the etiopathogenesis of hydatidiform mole is reviewed in light of these data. We believe this to be the first report of familial occurrence of molar pregnancies.
Omphalocele in half‐siblings
Authors: Kapur Saroj , Higgins James V. , Scott‐Emuakpor Ajovi B. , Dolanski Eugene A.
Published: July 2010

A family is described in which half‐siblings, a boy and a girl born to unrelated mothers and a phenotypically normal father, were affected with omphalocele. The suggested mode of transmission remains unclear. Prenatal diagnosis to detect an affected fetus should be offered to relatives of omphalocele‐affected individuals.
Sotos syndrome in two brothers
Authors: Boman Helge , Nilsson Dag
Published: July 2010

Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior. X‐ray examination of the hands revealed imbalanced and advanced skeletal age in one, whereas anterior fontanel bones were present in both brothers. Various hormone concentrations in plasma were all within normal limits, as were the results of a search for abnormal metabolites in plasma and urine. The occurrence of this usually sporadic syndrome in two sons of possibly remotely consanguineous, healthy parents, suggests that in some cases Sotos syndrome may be inherited as an autosomal recessive trait. Thus our observation may support the suggestion of heterogeneity of Sotos syndrome. Until specific tests for the identification of various types are available, genetic counseling for this syndrome is difficult.
Abnormality of chromosome 16 and its phenotypic expression
Authors: Golden N. L. , Bilenker R. , Johnson W. E. , Tischfield J. A.
Published: July 2010

An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46, XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid‐facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic appearance and the phenotype of the patient, this may represent a partial 16 trisomy. Unlike most abnormalities of chromosome 16, this syndrome was compatible with life.
49, XYYYY. A case report
Authors: Sirota L. , Zlotogora Y. , Shabtai F. , Halbrecht I. , Elian E.
Published: July 2010

A 14‐month‐old boy with a 49, XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.
Variation in nucleolar organizer activity in lymphocytes of females with adenocarcinoma
Authors: Cheng D. M. , Denton T. E. , Liem S. L. , Elliot C. L.
Published: July 2010

With the use of Ag staining and conventional light microscopy, a difference is visualized in the frequency of nucleolar organizer regions between PHA‐stimulated lymphocytes from normal females and females with various types of adenocarcinoma. This difference in NOR activity is more pronounced in G chromosomes than D chromosomes. It is feasible that rDNA gene activity in PHA‐stimulated lymphocytes is augmented in patients with adenocarcinoma due to the presence of plasma mediators arising from cellular malignancies. The NOR regions located on G chromosomes are considered to be more sensitive to these mediators than those on D chromosomes.
Pregnancy in Bloom's Syndrome
Authors: Mulcahy Marie T. , French Martyn
Published: July 2010

This report describes the clinical and cytogenetic findings in a young woman with Bloom's Syndrome, who was successfully delivered of a healthy child 6 years after the diagnosis of the condition. This is the first reported case of pregnancy in a patient with Bloom's Syndrome.
Increased frequencies of chromosomal abnormalities in families with a history of fetal wastage
Authors: Nordenson Ingrid
Published: July 2010

In twenty couples with a history of repeated fetal wastage, chromosomal abnormalities in cultured lymphocytes were analyzed with standard, G‐ and C‐banding techniques. The analyses revealed five individuals with a variant chromosome #1 (1 qh +) and one individual with an extra small unidentifiable fragment or ring chromosome in about 50 % of the cells. In the remaining 14 couples, an increased frequency of chromosomal breakage was found, compared to the frequencies in 11 couples with two children and no reported abortions. Eighteen out of 40 individuals (45 %) in the families with fetal wastage were found to have cytogenetic abnormalities. None of the 22 controls showed such abnormalities.
An XXXY boy with X/XY half‐sister
Authors: Welch Michael J. , Sparkes Robert S.
Published: July 2010

The clinical findings in a 13‐year‐old 48, XXXY boy are described. His half‐sister (same mother) has a 45.X/XY karyotype. The Xga blood studies are compatible with his extra X's originating from the mother. These Xga studies and the IgM levels in the 48, XXXY boy raise the possibility of a gene‐dosage effect for X‐linked genes affecting these traits. The proband also has chronic pulmonary problems, an interesting association that has been noted with the Klinefelter syndrome, although usually in adults.