bluuebunny/crossref_metadata_2025_split huggingface dataset:
Examination of a historic collection of isolated cranial and appendicular hadrosaurid material from the lower Kirtland Formation of the San Juan Basin, New Mexico
Authors: Wosik Mateusz , Guenther Merrilee F. 
Published: July 2016

AbstractThe Field Museum of Natural History collection contains several isolated hadrosaurid specimens collected by Charles H. Sternberg from the lower Kirtland Formation of the San Juan Basin, New Mexico, that have been previously overlooked. Cranial elements described herein consist of a dentary and three jugals while appendicular material is limited to two humeri and two pubes. Many of the specimens preserve taxonomically informative characters that show strong affinities with Kritosaurini but are distinct from Kritosaurus navajovius (Brown, 1910) suggesting that the saurolophine-dominated San Juan Basin diversity is greater than currently recognized. Future examination of currently unprepared material will add to our developing understanding of the ambiguous hadrosaurid diversity of the San Juan Basin.
Making Visible the First Women in Astronomy in Australia: The Measurers and Computers Employed for the Astrographic Catalogue
Authors: Stevenson T. 
Published: July 2016

AbstractIn Australia a significant number of women were employed to measure and compute the position of stars for the Astrographic Catalogue at Adelaide, Sydney, Melbourne and Perth Observatories. New archival research has provided evidence that the first women employed in astronomy in Australia were engaged due to this project.This paper focuses on Mary Emma Greayer, who was employed as a computer at Adelaide Observatory from 1890, and Charlotte Emily Fforde Peel, employed as a star measurer, computer and astrographic assistant at Melbourne Observatory from 1898. The measurement bureaux at Melbourne, Perth and Sydney Observatories are examined within the context of women working on the Astrographic Catalogue in other observatories during the late nineteenth century.Evidence is presented that individuals, such as Greayer and Peel, were vital to the completion of the Astrographic Catalogue and other astronomical work. Furthermore, it is argued that this evidence points to women having a broader role and greater agency within observatories in Australia and in astronomy than has previously been acknowledged.
Characteristics of Adaptation Period for Extrauterine Life of Neonates from Multiple Pregnancies
Authors: Mikulska M. , Wolnicka B. 
Published: July 2016

Multiple pregnancies pose numerous threats both for foetuses and neonates. The following disorders are encountered among the most important perinatal disturbances: EPH – gestosis, immature labour and premature rupture of foetal membranes. Also during the labour, particularly the second one and the following ones, various lesions that may cause increased incidence of diseases and mortality in this group of neonates [5, 6, 10, 18, 21, 22, 25]. Complications encountered in neonates from multiple pregnancies, resulting both from abnormal conditions of intrauterine development and from perinatal pathology, require still wider studies, particularly within the context of intensified obstetrical care of women with multiple pregnancies [7, 11, 13, 16, 24].In the years 1996-1998, out of 3883 neonates born in the Chair of Obstetrics and Gynaecology of the Silesian Medical Academy, 152 (3,9%) came from multiple pregnancies. This period included one case of quadruplets, eight cases of triplets and 62 twin pregnancies. Pregnant women were directed to our Chair within the program of multidisciplinary care of women with complicated pregnancies and they also came from the Department of Pathology of Pregnancy in our Chair. In 18 women, treated for infertility, the pregnancy was accomplished as a result of application of various techniques of assisted procreation. In one case – 4 foetuses were indicated, in five cases – three foetuses and in 12 cases – two foetuses.
Long-Term Follow-Up Study of Somatic Development in Prematurely Born Twins after Life-Threatening Episodes
Authors: Chlebna-Sokół D. , Ligenza I. , Haładaj K. 
Published: July 2016

AbstractThe study comprised 14 pairs of twins. All the children were prematurely born between the 27 and the 33 weeks of pregnancy with birth weight 600-1900 g. Somatic development was assessed on the basis of the body weight, length/height measurements taken in the 6thand 12thmonths of the corrected age and in the 24thmonth of the calendar age. Body mass index was also calculated as weight in kilograms divided by the square of the height in meters. The obtained results were compared with the regional norms for children from Lodz. Moreover, in each child individual measurements and body mass index were normalized as compared to the arithmetic mean and the standard deviation for the established age norm. The percentage of children with body mass deficiency and decreased body length/height was relatively high. Individual assessment of somatic development, taking into account the normalized values enable observation of the direction of changes within the range of somatic features in individual children. Retardation of somatic development of prematurely born twins should be first of all associated with their very low birth weight. Severe complications of prematurity affect physical development of the children examined by us, especially in the first two years of life.
From Genetic Research into Clinical Practice
Authors: Dallapiccola B. , Torrente I. , Mingarelli R. , Novelli G. 
Published: July 2016

AbstractThe present genome era is characterized by speedy progress and prompt transfer of results into clinical practice. This creates the need for rapid disclosure of results and renewal of laboratory's protocols. Molecular cytogenetics has provided and increased ability to identify chromosomes, correlate chromosome structure with gene location, find out cryptic aberrations, and detect specific DNA sequences. These advances have allowed the confident discovery of a number of contiguous gene syndromes. The positional cloning and positional candidate strategies have greatly expedited the search process of disease genes, and become relevant methods for genes' discovery. Understanding the molecular basis of diseases has shown an unpredicted wide genetic heterogeneity, which has splitted single disorders into many clinically similar conditions, and added complexity to the nosology of human diseases. The opposite process, allelism, where clinical diversity results from allelic mutations, has lumped together many distinct disorders, by showing that different clinical entities are not necessarily due to mutations in different genes. Dynamic mutations have provided the molecular understanding of interindividual and intrafamilial variability including anticipation, in a number of diseases. The discovery of distinct correlations between the molecular pattern and disease severity is providing a unique opportunity for using molecular results to assess the clinical outcome. Diagnostic, presymptomatic and predictive molecular testing are becoming widely used and provide enormous opportunities for improving the lot of our patients.
Prevalence and Correlates of Susceptibility to Motion Sickness
Authors: Sharma Krishan 
Published: July 2016

AbstractData on susceptibility to motion sickness were collected on a sample of 535 individuals divided into eight groups. The prevalence of motion sickness among Tibetans and Northeast Indians (28%) was slightly higher than Northwest Indians (26%). Generally speaking, females (27.3%) were more susceptible than males (16.8%). Among different groups, the highest incidence of susceptibility to motion sickness (SMS) was recorded in schizophrenic patients (30%), while the lowest in rowers (zero percent). Ears and eyes are the most potent receptors of provocative motion that causes sickness. Individuals with greater spatial and motor control, reflected in sports like rowing, athletics and professions like armed and paramilitary forces, were less susceptible to motion sickness.The SMS was significantly higher in individuals who suffered from spatial disorientation (35.05%), migraine (26.31%), gastrointestinal disorders (26.82%) and those who were more sensitive to unpleasant odours (24.64%) and preferred sweet flavours (24.48%) than their counterparts. These correlates have been utilized to explain the genesis of sickness using threshold model. Genetic and environmental pathways are strongly advocated. Past episodes of motion sickness acted as a strong psychological attribute in determining further episodes. The roadway buses and trucks proved more effective passive transportation types that caused sickness. The voluntary stabilization of the head and neck movements and gaze control proved very effective natural measures adopted by 38% subjects to avoid or limit motion sickness. About 50% of susceptible individuals became less susceptible or fully acclimatized to motion sickness due to habituation. The mean age at acclimatization was 21.98 ± 5.93 years.
The Assessment of the Umbilical Blood Flow of the Surviving Twin after the Intrauterine Death of the Other Twin
Authors: Malinowski W. , Dec W. , Biskup I. 
Published: July 2016

AbstractThis paper summarizes our experience with Doppler velocimetry in survivors of intrauterine co-twin demise. In the first trimester, ten dichorionic deaths occurred; none of the survivors developed flow disorders. During the second trimester, there were three intrauterine demises, two of them were monochorionic and the survivors developed flow disorders: one presented transitory venous flow aberration, the other one an impaired development of diastolic flow. In the third trimester, two intrauterine deaths occurred. One case of twin to twin transfusion syndrome (TTTS) was complicated by the donor's death and the recipient showed a loss of diastolic flow. The second one happened during a dichorionic twin pregnancy. The survivor presented high systolic/diastolic daily ratio (S/D = 7.8).
Prader-Willi and Angelman Syndromes and the Implications of Genomic Imprinting in Their Etiology
Authors: Cassidy S.B. 
Published: July 2016

The unfolding of the genetic story of Prader-Willi and Angelman syndromes provided the first recognition of human genomic imprinting. These disorders, which are clinically very distinct, are related through their genomic proximity and the inverse direction of the imprinting which affects them. Both are interesting disorders in themselves, especially in that both have distinctive behavioral patterns among their clinical features that may teach us much about normal human behavior.Prader-Willi syndrome (PWS) is a complex multi-system condition whose major features include infantile hypotonia with decreased arousal, poor suck and failure-to-thrive; characteristic dysmorphic facial features; hypopigmentation; childhood onset of obesity due to lack of satiety; hypogonadotropic hypogonadism with genital hypoplasia and delayed and incomplete puberty; short stature for genetic background; developmental delay and usually mild mental retardation; and a characteristic behavioral disturbance with temper tantrums and obsessive-compulsive behavior. PWS occurs in about 1/15,000 people. Since its first description in 1956, it has been apparent that many of these features arise from insufficient function of the hypothalamus, and recent identification of neurosecretory growth hormone insufficiency and temperature and sleep regulation abnormalities support this. However, no visible gross or microscopic abnormalities of the hypothalamus are seen on neuropathology. The finding of a chromosome 15q 11-13 deletion in a proportion of patients with PWS by Ledbetter and colleagues in 1981 was the first window to the exciting genetic discoveries of the past decade, including recognition (initially by Butler and Palmer) that the deletion is always on the paternally-derived chromosome 15 in PWS, and the finding by Nicholls and coworkers that the vast majority of the remainder of patients had normal chromosomes but had maternal uniparental disomy (UPD). Nearly all patients with clinically typical PWS have either 15q deletion (about 75%) or maternal UPD (about 25%). This is the first human disorder that was recognized to result from uniparental disomy, and lead to many insights into imprinting.
Tuberous Sclerosis: Between Genetic and Physical Analysis
Authors: Halley D.J.J. 
Published: July 2016

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder with extensive clinical variability. Present estimates of the prevalence of TSC suggest that it may exceed 1:6,000. New mutations are frequent, as about 2/3 of all cases are apparently sporadic. Locus heterogeneity has been established, with one gene on chromosome 9q34 (TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of TSC2 mutations are propably subtle alterations. In some cases, somatic and germline mosaicism might be explanations for intrafamilial phenotypic variation and apparent non penetrance. A role of the predicted protein product tuberin in growth suppression would be in agreement with allelic losses observed in tumors of TSC patients. Studies on tuberin using antibodies raised against various parts of the protein can be expected to provide insight into its normal and impaired function.
Dosage and Imprinting Effects in Abnormalities of Human Chromosome 15
Authors: Ledbetter D.H. , Christian S.L. , Kubota T. , Mutirangura A. , Sutcliffe J.S. , Nakao M. , Beaudet A.L. 
Published: July 2016

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by paternal deficiency (PWS) or maternal deficiency (AS) of gene(s) in 15qll.2-ql3. We have constructed a 3.5 Mb yeast artificial chromosome (YAC) contig of the PWS/AS region and cosmid contigs of selected YACs at D15S13, SNRPN, S10, and S113. Cosmid clones have been used for fluorescence in situ hybridization (FISH) detection of deletions in PWS and AS patients. In addition, a total of 28 short tandem repeat polymorphisms (STRs) have been mapped to specific YACs in the contig, providing a highly informative set of markers for detection of deletion or uniparental disomy (UPD) in PWS and AS patients. Use of the 3 most informative markers in this region (S542, S128, and ASSCA-1) plus 3 markers distal on 15q (S123, S125, and S131) provide an efficient diagnostic strategy for UPD15.A combination of FISH and STR analysis has identified small deletions in one sporadic and one familial case of PWS (family O). Both deletions involve all or part of the SNRPN gene but do not extend telomeric to PAR-5 or PAR-1, two novel transcripts expressed exclusively from the paternal chromosome. However, expression of SNRPN, PAR-5, and PAR-1 is lost in both cases, implying the presence of an imprinting control region near SNRPN. The smallest deletion in family O is estimated at approximately 30-40 kb in size and involves a newly identified CpG island at the 5′ end of SNRPN which is methylated on the maternal chromosome. This small deletion in two PWS affected siblings was present in the father and the paternal grandmother, both of whom were phenotypically normal.
Fragile X Syndrome in Humans and Mice
Authors: Oostra B. A. 
Published: July 2016

Fragile X syndrome is the most common cause of interited mental retardation in humans, with a frequency of approximately 1 in 1200 males and 1 in 2500 females [1]. It is second only to Down syndrome as a genetic cause of mental retardation, which has an overall frequency of 1 in 600. These frequency estimates suggest that fragile X syndrome accounts for approximately 3% of mental retardation in males, and perhaps as much as 20% in males with IQs between 30 and 55 [2]. The disease derives its name from the observation of a fragile site at Xq27.3 in cultured lymphocytes, fibroblasts and amniocytes [3].The phenotype of the fragile X syndrome is mental retardation, usually with an IQ in the 4-70 range [4] and a number of dysmorphic features: long face, everted ears and large testicles [for review see ref. 5] (Fig. 1). Not every patient shows all the physical symptoms, which are generally more apparent after childhood. Macroorchidism is a common feature of fragile X syndrome in more than 90% of postpuberal males. Some patients show hyperactivity and attention deficits as well as avoidance behaviour similar to autism. Affected females generally have a less severe clinical presentation, and their IQ scores are generally higher, with typically borderline IQs or mild mental retardation.No gross pathological abnormalities have been described in the brains of fragile X patients. Only a few post-mortem brain studies of fragile X males have been described and the information is very limited, presenting only non-specific findings such as brain atrophy, ventricular dilatation and pyramidal neurons with abnormal dendritic spines. It has been shown that the volume of the hippocampus was enlarged compared to controls [6], while a significantly decreased size of the posterior cerebellar vermis and increased size of the fourth ventricle was found [7]. Using magnetic resonance imaging it was shown that fragile X patients have an increased volume of the caudate nucleus [8]. The caudate volume is correlated with IQ and methylation status of the FMR1 gene.
Clinical Use of Molecular Genetic Studies in Retinoblastoma
Authors: Passarge E. 
Published: July 2016

With a population incidence of about 1 in 15.000 retinoblastoma is the most frequent intraocular tumor in infancy and early childhood. It occurs in a hereditary form due to a germline mutation in about 40% of patients (30% de novo mutation and 10% transmission from an affected parent) and in a non-hereditary form due to a somatic mutation. The retinoblastoma gene is located on chromosome 13q14. This large gene of about 180 kb, consists of 27 exons of rather different sizes and encodes a 4.7 kb transcript with important function in cell cycle regulation. Individuals with bilateral, multifocal tumors are assumed to carry a germline mutation, whereas unilateral and unifocal tumors are generally due to the somatic form. Both copies of the RB1 gene must be in inactivated before a tumor develops. In about half of patients with the germline mutation the second event inactivating the second allele can be shown by loss of heterozygosity in tumor tissues compared to surrounding somatic tissues.Knowledge of the RB1 gene locus affords an opportunity to specify the type of mutation in many patients and arrive at a definitive molecular diagnosis. This is the basis for clinical evaluation and genetic counseling. The types of mutation are large scale deletions, small deletions and insertions, and base substitutions. There is no hot-spot for mutations.During the last several years we have studied more than 200 patients in search for large scale and small deletions and insertions, and missense mutations. Using intragenic polymorphic DNA markers we were able to identify the mutant haplotype in all familial cases. Direct DNA analysis identified a mutation in about 25% of patients. The distribution of lesions will be described in relation to the clinical situation.
A Bird's Eye View of Human Sex Determination
Authors: Polani P.E. 
Published: July 2016

In the beginning the dogma was that sex determination in man followed the Drosophila pattern in which XO is male, XXY female, and the Y chromosome has no direct influence on the determination of sex. On the grounds of specific anomalies with which they presented, females with Turner Syndrome were sex chromatin tested and found to be chromatin negative [1]. This result, confirmed in 1956 by the male frequency of red-green colour blindness in these subjects which indicated that they carried only one X chromosome in spite of their female phenotype, suggested that therefore they might be XO, and, so, hinted that sex determination in man might not follow the then accepted pattern [2]. In 1959 chromosome studies confirmed that XOs were female [3] and showed that subjects with the symmetrical XXY sex-chromosome anomaly were with Klinefelter syndrome [4]. In the same year, by showing that XOs were females also in mice [5] it became accepted that the Y chromosome was the determiner of the formation of the testis in the mammalian embryo, and so was the key element in primary sexual differentation. It would seem appropriate to call this formal model of chromosomal sex determination the Malandrium pattern [6].In 1966 Jacobs and Ross [7], from work on males with Y chromosome deletions narrowed down the testis determining function of the Y chromosome to its short arm. Then, in 1975, Wachtel and collaborators [8] were the first to formulate a hypothesis on the sex determining gene, or, more precisely on the nature of its product. They suggested that this developmental role might be played by the H-Y antigen, a weak histocompatibility antigen which had been known to be involved in the rejection of male skin grafted onto otherwise histocompatible female mice. The idea had run into technical difficulties and a major problem was related to the significance that should be attached to the results of two different ways for demonstrating the antigen, namely the cell-mediated cytotoxicity test or the serological test. Efforts were made to keep the H-Y hypothesis alive, largely because there was a certain elegance about it [9, 10]. However eventually XX male mice, lacking H-Y by either test, spelt the end of the candidature of H-Y as the testis determining mechanism [11, 12].
The Genetics of Retinoblastoma, Revisited
Authors: Sapienza G. , Naumova A.K. 
Published: July 2016

The fact that all individuals are not identical in their risk for certain cancers has been known for many years. The factors responsible for the increased risk observed in certain individuals, families, or populations may be either environmental or genetic. The genetic risk factors identified to date generally result in a greatly increased relative risk – on the order of ten to one hundred thousand-fold in the case of familial retinoblastoma, for example. The major reason for the identification of genetic factors that result in such large increases in relative risk is that the transmission of such genes in families results in an easily identifiable pattern of inheritance and the concommitant ability to locate the gene resulting in increased risk by genetic linkage analysis. From our study of sporadic and familial retinoblastoma, we have identified a genetic factor whose action appears to result in a more modest increase in relative risk – on the order of one-hundred to one-thousand-fold. We believe that a locus that is responsible for this increase in relative risk lies on the human X-chromosome. Our data indicate that aberrant alleles at this locus not only appear to increase an individual's risk for a number of cancers, but also participate in the process of genome imprinting.The epidemiological and genetic arguments in favor of the involvement of an X-linked “imprintor, mutator” gene in the generation of new, heritable, RB-1 mutations are given in detail in Naumova and Sapienza (1994). The pertinent data may be summarized as follows:1. there is a significant excess-of-males among patients with bilateral sporadic but not unilateral sporadic retinoblastoma;2. there is preferential retention of paternally-derived RB-1 alleles in bilateral, but not unilateral, sporadic retinoblastoma;3. sex ratio bias in favor of males is observed among the offspring of male founders but not female founders of retinoblastoma pedigrees (i.e. the male founders fail to transmit their X-chromosomes with the expected frequency;4. transmission ratio distortion in favor of affected individuals is observed among the offspring of male founders but not female founders, and5. the affected male offspring of these male founders have families in which offspring are distributed equally among affected and unaffected boys and girls, as expected for an autosomal dominant trait, i.e. sex-ratio and transmission-ratio distortion are observed only among the offspring of male founders of retinoblastoma pedigrees.