bluuebunny/crossref_metadata_2025 huggingface dataset:
Biedermeierkulturens beskidte bagside
Authors: Heede Dag
Published: January 2024

This article explores the themes of mud, marsh, and dirt in three fairy tales by Hans Christian Andersen: ”Clumsy-Hans,” ”The Swineherd,” and ”The Marsh King’s Daughter” from the perspective of queer theory. Following Michel Foucault’s reinterpretation of the Victorian Age as one characterized not mainly by repression but rather by production, proliferation, and multiplication of sexuality, I view Andersen’s texts as complex and ambivalent negotiations of desire and sexuality, purity and danger. The idyllic and harmonious surfaces reveal complex fantasies of both a sexual and scatological nature if, as a reader, one is willing to get one’s hands and mind dirty. The famous tale of ”Clumsy Hans” is seen as a celebration of a noble Son of Nature who literally knows his shit and is willing and able to manipulate it to his advantage. ”The Swineherd” is a misogynous story about a ”dirty” princess and about a prince who realizes that he is above both the dirt and the woman. The complex tale of ”The Marsh King’s Daughter” is an exploration of both incestuous and reproductive sexualities (both associated with marsh and mud) suggesting a higher, celestial escape from both forms. In a Foucauldian reading, Andersen’s texts can be seen as typically Victorian, in so far that the significance of sexuality is highlighted, but, except for ”Clumsy Hans”, they are also endeavors to imagine different ways to transcend the materiality – and the implied dangers and ”impurity” – of sex.
Patologisering af non-reproduktive seksuelle praksisser aktuelt og historisk
Authors: Zetterberg-Nielsen Henrik
Published: January 2024

The article provides a critical commentary on the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, DSM-V, from 2013. It traces the historical reasons behind the fact that sexual preferences are included as mental disorders in the psychiatric manual, even if many of them are empirically neither generally associated with impairment or harmful to anyone else. This holds true for fetishism, masochism and consensual sadism among others, and the article pays special attention “sadism” and “masochism, which as “clinical” terms are constituted from the names of literary authors. Second it close reads the descriptions in DSM-V to show that there are several reasons why these descriptions become pathologizing and stigmatizing despite explicit intentions to be the opposite. These include erosions of the distinction between paraphilia and paraphilic disorder – a distinction on which the very possibility of diagnosis is established. Furthermore, the handbook does not make the non-consensual, the impairing or the harmful, the over-riding principle but instead the sexual preference in and of itself. The article shows how deeply affected the conceptions of the real-world preferences are by the events and characters in the fiction of these authors, and how hierarchical disparity and power exchange are typically more central to the preferences than pain with which they have been so closely linked.
The role of ferroptosis in central nervous system damage diseases
Authors: Li Mingzhu , Jin Shengbo , Zhu Xudong , Xu Jian , Cao Yang , Piao Haozhe
Published: January 2024

Ferroptosis is a form of cell death, i.e., programmed cell death characterized by lipid peroxidation and iron dependence, which has unique morphological and biochemical properties. This unique mode of cell death is driven by iron-dependent phospholipid peroxidation and regulated by multiple cell metabolic pathways, including redox homeostasis, iron metabolism, mitochondrial activity, and the metabolism of amino acids, lipids, and sugars. Many organ injuries and degenerative pathologies are caused by ferroptosis. Ferroptosis is closely related to central nervous system injury diseases and is currently an important topic of research globally. This research examined the relationships between ferroptosis and the occurrence and treatment of central nervous system injury diseases. Additionally, ferroptosis was assessed from the aspect of theory proposal, mechanism of action, and related signaling pathways per recent research. This review provides a relevant theoretical basis for further research on this theory, the prospect of its development, and the prevention and treatment of such diseases.
The impact of Giloy (Tinospora cordifolia) and Amla (Emblica officinalis) Herbal Feed Additives on the Morphometric Traits of Magra Lambs Raised under the Extensive Rearing System in Western Rajasthan, India
Authors: Joshi Abhishek , Saini Nirmala , Yadav Vishal , Udawat Rajpal Singh , Mohta Rajesh , Goswami S. C.
Published: January 2024

The objective of this research was to explore the utilization of herbal feed supplements, precisely amla (Emblica officinalis) and giloy (Tinospora cordifolia), affects the morphometry of Magra lambs under an extensive management system. The study involved 28 Magra lambs aged 3-4 months, placed within an extensive system. These lambs were randomly allocated into 04 experimental groups, each consisting of 7 lambs, using a randomized block design (RBD). In an extensive management system, Amla (Emblica officinalis) whole fruit powder and Giloy (Tinospora cordifolia) stem powder, herbal feed additives, were provided at a dosage of 1.5 gram per kilogram body weight with concentrate for T1 and T2 groups, respectively. This supplementation was excluded for the control group, and a different approach was followed for T3. T3 group received a combined supplement of Amla whole fruit powder and Giloy stem powder at a concentration of 0.75 gram per kilogram body weight, administered alongside concentrate as oral/feed. By the conclusion of the experiment, notable alterations were observed in measurements such as abdominal girth, chest/heart girth, body height, and body length; however, these changes remained within the standard range of morphometric traits. At the conclusion of the experiment, it seems that integrating 1.5 gram per kilogram body weight of giloy stem powder and amla powder can be considered a viable component of the strategy, as it proves effective in enhancing morphometric traits in lambs within the extensive management system of the arid zone of Rajasthan.
Exploring the Characteristics and Applications of Eucheuma Cottonii Seaweed Flour in Crepe Production
Authors: Alavazo Lovejoy A.
Published: January 2024

These days, people eat to focus on their hunger, meet their nutritional needs, and lower their risk of illness. People are conscious of nutritional facts. Individuals are beginning to read the ingredients listed on every food product they purchase and see if it's good for their health. A wide range of food products that compromise diet benefits and health and provide basic nourishment has been developed in response to public demand. Until now, very little research has been done on substituting Eucheuma cottonii (E. cottonii) powder for wheat flour to make crepes.   Crepe is a dessert that is filled with many kinds of mixtures. Seaweed has a relatively high nutritional fiber content and is high in carbohydrates. Seaweed's economic and practical worth can be raised by turning Eucheuma cottonii seaweed into flour to substitute wheat flour for crepe.

Consequently, the current study's objectives were to create a seaweed crepe recipe using powdered seaweed and assess the effects of E.  cottonii powder on the physical and chemical qualities of biscuits, such as their texture profile, proximate analysis, sensory attributes, and physical characteristics. The same ingredients used in preparing homemade crepes were also used in the seaweed crepe recipe. Nevertheless, more of Eucheuma cottonii (E. cottonii varies the ingredients' amount and ratio, including cottony seaweed powder. Significant changes were made to the physicochemical properties of the crepe formulation by adding powdered seaweed. Adding seaweed flour to the crepe's recipe also impacted the crepe's appearance, taste, consistency, sweetness, and aroma. This study aims to investigate the culinary potential of seaweed flour and offer a nutrient-rich substitute for regular crepe flour.
Measuring the Knowledge of Rural School Children on Nutrition Education in Bihar, India
Authors: Pal Ankit , Lenin Venu , Dube Alok , Dixit Awadhesh , Singh Akanksha , Kumar Sunil
Published: January 2024

This research study investigates the knowledge regarding nutrition education among rural school children in Bihar, India. The goal of the study is to evaluate the existing level of nutrition knowledge and comprehension among kids in rural regions and to pinpoint possible areas for development in nutrition education initiatives. The rural school students were subjected to an interview schedule. A sample of rural schoolchildren from different Bihar schools, ranging in age from 8 to 12, participated in the study. The environment was taken into consideration when choosing knowledge test questions. A 53-item knowledge test was put through a relevancy check with help from extension specialists, and 43 items were chosen for the test. Thirty extension workers from outside the research area pretested the 53 items.  Item analysis evoking difficulty index, discrimination index, and point biserial correlation were conducted based on the results of the pretesting. Items with difficulty indices between 0.3 and 0.8, discrimination indices equal or above 0.3, and substantial point biserial correlation at the 5% level of significance were chosen. Utilising the split-half method, the test's reliability was calculated and determined to be 0.70. Ultimately, 18 questions were chosen for the final knowledge test given to rural schoolchildren. This knowledge test reveals a knowledge gap about nutrition and its significance for general health and well-being among Bihar's rural schoolchildren. Most kids showed little understanding of key nutrients, food groupings, and their nutritional value. Additionally, there was a paucity of knowledge regarding the long-term effects of improper eating patterns and inadequate nutrition.
Mushroom Cultivation MOOC at Kerala Agricultural University: Garrett Ranking Analysis of Constraints to Enhance Online Agriculture Learning
Authors: Navitha V. N.  , Mercykutty M. J.  , Bonny Binoo P. , Ajithkumar B. , Jaliya M. K.
Published: January 2024

Participants in this extensive Massive Open Online Course (MOOC) on mushroom cultivation will gain a wealth of knowledge and useful skills necessary for cultivating a wide variety of mushrooms. In this study, the Center for e-learning at Kerala Agriculture University will analyse the barriers to mushroom growing as part of a MOOC. 30 participants in the MOOC course were chosen at random to participate in the study as responses. Using the specified sampling size and data collection methodology, an ex post facto research design was employed for the study. The requirements in the MOOC course were prioritized using the Garrett ranking technique after the data were statistically analysed. Results revealed that 55.06 per cent of the respondents have the economic constraint that is the power/ electricity usage costs more to them, of the technological challenges encountered, interacting with the resource person less frequently comes in the rank first with 60.13 per cent, the biggest personal challenge is developing skill-oriented knowledge, which is difficult and it has been ranked first with 67 per cent, Personal commitments, such as employment, family duties, health concerns etc., ranks first with 62.53 in terms of situational limitations and 66 percent of the respondents rranked first that there is more number of theory classes with minimum hands-on experience in psychological challenges
Species Composition of Aquatic Resources in Lantebung Mangrove Ecotourism Area, Makassar, Indonesia
Authors: Muslim Asrul , Kantun Wayan , Nursyahran
Published: January 2024

The mangrove ecotourism area is an alternative place for recreation for the community, so it is thought to disturb aquatic resources. This study aims to analyze the species composition of aquatic resources in the Lantebung mangrove ecotourism area. Data collection used a survey method, and the research was conducted from October to November 2023 in the Lantebung mangrove ecotourism area in Makassar, Indonesia. The results showed that the composition of fish species consisted of five dominating fish species, namely Tawes (Garres abbreviatus) 3904 fish (39.40%), Peperek (Nuchequula nuchalis) 2389 fish (24.11%), Peperek (Eubleekeria splendens) 1021 fish (10.30%), Rejung fish (Sillago robusta) 975 fish (9.84%), and Peperek (Leiognathus longispinis) 910 fish (9.18%). The diversity of aquatic resources included 29 species of fish with 9985 individuals, 19 species of crustaceans with 117 individuals, ten species of Mollusca with one individual in each species, and one species of Cnidaria with one individual. The highest fish species composition is Tawes fish (Garres abbreviatus), and the lowest type is Cnidaria.
Study of Soil Nutrient Status of Doddavaram Microwatershed in Koyyuru Mandal of Visakhapatnam District, Andhra Pradesh, India
Authors: Rani Y. Sandhya , Madhuri K. V. Naga , Naidu M. V. S. , Gurumurthy P. , Ramamurthy V. , Kumari P. Lavanya
Published: January 2024

Aims: To asses the fertility status of the soils of Doddavaram microwatershed of Koyyuru mandal of Visakhapatnam district, Andhra Pradesh in which twenty soil profiles were studied for soil physico-chemical properties (pH, EC, OC) and soil nutrient status (N, P2O5, K2O, Zn, Cu, Fe and Mn).

Study Design:  The soil  profiles were selected based on the slope and its heterogeneity

Place and Duration of Study: Doddavaram microwatershed of Koyyuru mandal of Visakhapatnam district, Andhra Pradesh located in between 17° 38' 4.779" to 17° 42' 15.440" of North latitudes and 82° 10' 56.784" to 82° 15' 1.372"East  longitudes

Methodology: Preliminary traverse of the entire watershed was carried out using 1:10,000 scale base map and satellite imagery. After delineating the landform on the satellite image, intensive traversing of each landform was undertaken to select the representative areas for transect study based on geology, drainage pattern, surface features, slope characteristics and land use, landforms and physiographic divisions. Transects were located across the slope at right angles to the contours and covers most of the variations observed in a landform. In each selected transect, profiles were located at closely spaced intervals to take care of any change in the land features like break in slope, erosion, gravels and stones etc . In this way totally twenty (20) soil profiles were opened and soil samples were collected and analyzed in the laboratory for soil nutrient status.

Results: The results revealed that the soils of Doddavaram microwatershed were very strongly acidic to slightly alkaline (4.58 to 7.82) in reaction, non-saline (0.02 to 0.17 dS m-1), low to high (0.10 to 0.78%) in organic carbon. Moreover, these soils were low to medium in available nitrogen (28.30 to 147.14 mg kg-1), available phosphorus (2.19 to 14.78 mg kg-1 P2O5) and available potassium (27.63 to 117.44 mg kg-1 soil). The available sulphur content in the soils varied from deficient (1.41 mg kg-1) to sufficient (20.83 mg kg-1 soil). The surface horizons of pedons 1,2,9,10,11,13,14,15,16,1718,19 and 20 were sufficient in DTPA extractable zinc, while the pedons 3,4,5,6,7,8 and 12 showed deficient levels in the surface horizons. Moreover, the zinc concentration in the sub-surface horizons was sufficient to deficient. The surface and sub-surface horizons of all the pedons in the study area of Doddavaram microwatershed were found to be sufficient in DTPA extractable copper, iron and manganese and found to be above the critical limits.

Conclusion: The analysis of macronutrients in the soils of Doddavaram microwatershed of Koyyuru mandal of Visakhapatnam district revealed that soils are low to medium in available nitrogen, phosphorus and potassium and deficient to sufficient in available sulphur. soils of the microwatershed were deficient to sufficient in available Zn and sufficient in available Fe, Cu and Mn.
Evaluation of Requirement of Extraction of Maxillary Primary Canine in 3-5 Year Old Children
Authors: Nivedhita G. , Jeevanandan Ganesh
Published: January 2024

Dental extraction is the process of painlessly removing a whole tooth, or root, without majorly causing trauma to the adjacent tissues and tooth structure, so that the wound heals without causing any problem during postoperative prosthetic replacement. Primary teeth extraction is mainly due to long time unattended caries in most cases. As there is a decrease in the overall caries occurrence across the world, incidence of caries in developing countries are still lots in number. This is a single centered retrospective study done within a private dental hospital. Ethical approval was obtained from the institutional review board before the commencement of the study. The data was collected from the hospital management system. Cases sheets of children within the age of 3-5 years were selected. The data were then transferred to the latest version of SPSS software for statistical analysis. Frequency distribution and chi-square tests were done. The p value was set 0.05 as the level of significance. Within the limitation of the study it is concluded that the maxillary primary canine of 4 year olds is extracted more than that of 5 year olds. It is also evident that females children who have extracted their maxillary primary canine are more compared to male children. It is also proven that dental caries is the sole reason for extraction of maxillary primary canine.
Correlation and Path Coefficient Analysis in Bitter Gourd (Momordica charantia L.) Genotypes
Authors: Aftab Oneza , Nazir Gazala , Hussain Khursheed , Masoodi Ummyiah H. , Bashir Khansa , Nazir Nageena
Published: January 2024

Correlation of various characters with yield is useful and provides criteria for direct selection of component characters. The other genetic parameter commonly used is the path analysis as given by Dewey and Lu, 1959.  It critically breaks up different direct and indirect effects which finally add upto the correlation coefficient. The present investigation was undertaken at the Experimental field of Urban Technological Park Habbak, Srinagar, Jammu and Kashmir during kharif-2022. The experiment was laid out in Randomized Block Design with three replications and plant spacing of 2×1 m for thirty genotypes in order to study the association among yield and yield components, their direct and indirect influence on total marketable fruit yield. Observations were recorded on various growth and yield traits and seed traits. Positive and significant correlation was noted for fruit yield ha-1 with number of male flowers plant-1, number of female flowers plant-1, vine length (m), number of fruits, average fruit weight (g), leaf area (cm2), number of seeds fruit-1, seed weight fruit-1 and fruit yield plant-1 both at genotypic and phenotypic levels. Path coefficient analysis disclosed that traits such as number of fruits per plant, vine length (m), number of female flowers, average fruit weight(g) and number of seeds per fruit should be given due importance by selection for breeding of new cultivars as they exhibited the highest direct effects on the fruit yield ha-1.
Role of experience in processing bias for aggressive words in forensic and non‐forensic populations
Authors: Smith Paul , Waterman Mitch
Published: March 2004

Research is beginning to suggest that elevated levels of anger may influence responses in traditional cognitive tests of attention. To date research has focused upon nonforensic samples, and trait and state levels of anger. If individuals who are habitually aggressive demonstrate processing bias then it is likely that other constructs such as aggressiveness, hostility, and impulsivity will also be correlated with any bias performance. We attempted to extend the research by also considering the role of aggressive experience and impulsivity in such bias by using a group of offenders (n=50) from prisons in the North of England and undergraduates (n=30) from a university in the North of England. We hypothesised that violent offenders (as classified by their index offence) would demonstrate delayed responses when presented with aggressive stimuli as targets in a thematically primed version of the traditional dot‐probe task, due to the activation of associated representational structures by a violently themed vignette when compared to a neutral vignette. We also hypothesised that the violent offenders would become distracted when searching for a neutral word target which was surrounded by aggressive words in a visual search task [Cohen et al., 1998] leading to delayed responses compared to a neutral word surrounded by negatively or positively themed emotion words. Finally, we hypothesised that undergraduates with elevated levels of aggressiveness would also show similar (albeit attenuated) biases for these materials. Violent offenders demonstrated significant response biases to aggression words in both tests. This effect was also found in the aggressive undergraduates (as classified by their scores on the Buss‐Perry Aggression Questionnaire). These data confirm the saliency of aggression words to aggressive individuals across populations. The objective nature of these tests, together with their resilience to deception, may offer a useful tool in the assessment and treatment of aggressive individuals. Aggr. Behav. 30:105–122, 2004. © 2004 Wiley‐Liss, Inc.
Sex differences in levels of physical, verbal, and indirect aggression amongst primary school children and their associations with beliefs about aggression
Authors: Tapper Katy , Boulton Michael J.
Published: March 2004

The present study examined sex differences in levels of physical, verbal, and indirect aggression amongst primary school children and their relationship with instrumental and expressive beliefs about aggression. Levels of aggression were examined using self ratings, peer ratings, and observations. The latter were collected during the mid‐morning and lunchtime breaks using a wireless microphone and hidden video camera. Beliefs about aggression were assessed using modified versions of Campbell et als.' [1992] EXPAGG questionnaire. The results revealed significantly higher levels of observed physical aggression amongst boys as compared to girls. However, although the means were generally in the directions predicted, there were no other significant sex differences, nor interactions between sex and age. The results also showed limited support for claims that instrumental versus expressive beliefs about aggression influence behaviour. Beliefs generally showed significant correlations with reported and observed levels of aggression, and three of these remained significant even after the variance associated with sex and age had been partialled out. On the basis of these results, we call for more longitudinal research while simultaneously acknowledging the possibility that children's beliefs about aggression and their aggressive behaviours may be shaped independently from one another. Aggr. Behav. 30: 123‐145, 2004. © 2004 Wiley‐Liss, Inc.
Confirmatory factor analysis and the factor structure of expagg in context: A reply to forrest et al., 2002
Authors: Muncer Steven , Campbell Anne
Published: March 2004

It has been suggested that confirmatory factor analysis (CFA) can be used to investigate the construct validity of psychometric scales and Forrest et al. [2000] specifically query the factor structure of Expagg using this technique. In this paper we report unsuccessful attempts to confirm the factor structure of three widely used scales using CFA criteria. In the fourth study, a two‐factor model of Expagg, which has been derived from previous studies, is tested for fit on new data. The results suggest that from a CFA point of view, Expagg is best considered as two scales measuring expressivity and instrumentality with five items on each scale. This model satisfies four of the five fit criteria (CFI = 90, GFI = .94, RMSEA = .08, ECVI = .44), failing only on the chi square test, a benchmark that has attracted criticism from statisticians. Other concerns are raised about the meaning of CFA results and their importance. Aggr. Behav. 30:146–157, 2004. © 2004 Wiley‐Liss, Inc.
Genome‐scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey
Authors: Marazita Mary L. , Field L. Leigh , Tunçbilek Gökhan , Cooper Margaret E. , Goldstein Toby , Gürsu K. Gürler
Published: March 2004

Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly, with birth prevalence ranging from 1/500 to 1/1,000. A number of genetic loci have shown positive linkage or association results in European Caucasian populations. The purpose of the current study was to assess whether any of those loci have positive results in Turkish Caucasian CL/P families, and to perform a 10 cM genome scan to identify other regions potentially containing cleft susceptibility loci. Eighteen affected individuals with consanguineous parents were identified as part of our on‐going studies of orofacial clefts in Ankara, Turkey. Genotyped were 383 genome‐scan markers, and 70 additional markers, including markers in six candidate loci or regions on chromosomes 2, 4, 6, 14, 17, and 19 (TGFA, D4S175, F13A1, TGFB3, D17S250, and APOC2) that have been implicated in other studies of families with orofacial clefting. LOD scores (two point and multiple point) and family‐based association statistics (TDT) were calculated between each of the markers and CL/P. For the LOD score calculations, an autosomal recessive model was assumed for the inheritance of CL/P. Of the six candidate markers, significant TDT results were obtained with TGFA (P = 0.05). The most statistically significant multipoint results from the linkage genome scan were between putative genes controlling risk of CL/P and regions on chromosomes 4, 10, 12, and 15 (maximum multipoint HLOD's of 1.25, 1.30, 2.73, and 1.28 respectively). These results demonstrate the power of small numbers of families with inbred probands to detect linkage and association. © 2003 Wiley‐Liss, Inc.
Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome
Authors: Schanen Carolyn , Houwink Elisa J.F. , Dorrani Naghmeh , Lane Jane , Everett Ruth , Feng Alice , Cantor Rita M. , Percy Alan
Published: March 2004

Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype‐genotype correlations. These studies have produced conflicting results in part related to use of different clinical severity scales, different diagnostic criteria, and different stratification by age and mutation group as well as the possible effects of unbalanced X‐chromosome inactivation. The present study applied a revised ordinal scoring system that allowed for correction for patient ages. We analyzed 85 patients with mutation in MECP2. Sixty‐five (76%) had one of eight common mutations. Patients with missense mutations had lower total severity scores and better language performance than those with nonsense mutations. No difference was noted between severity scores for mutations in the methyl‐binding domain (MBD) and the transcriptional repression domain (TRD). However, patients with missense mutations in TRD had the best overall scores and better preservation of head growth and language skills. Analysis of specific mutation groups demonstrated a striking difference for patients with the R306C mutation including better overall score, later regression, and better language with less motoric impairment. Indeed, these patients as a group accounted for the differences in overall scores between the missense and nonsense groups. Thus, the impact of specific mutations coupled with possible variation in X‐chromosome inactivation must be considered carefully in the derivation of phenotype‐genotype correlations. These results emphasize the limitations of such analyses in larger mutation groups, either by type or position. © 2003 Wiley‐Liss, Inc.
Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome
Authors: Gurrieri Fiorella , Scarano Gioacchino , Garavelli Livia , Monica Matteo Della , Lonardo Fortunato , Cuda Domenico , Banchini Giacomo , Opitz John M. , Neri Giovanni
Published: March 2004

Recently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition. © 2003 Wiley‐Liss, Inc.
Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia
Authors: Akahoshi Keiko , Spritz Richard A. , Fukai Kazuyoshi , Mitsui Norimasa , Matsushima Kazushige , Ohashi Hirofumi
Published: March 2004

Association of the pink‐eye‐dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous albinism type 2 (OCA2) and Prader–Willi syndrome (PWS) or Angelman syndrome (AS). However, it remains unknown whether duplication or amplification of the P gene causes hyperpigmentation. We previously reported a woman who had hyperpigmentation with a duplication of the proximal part of 15q, including the P gene. Here, we describe an additional patient with mosaicism of inv dup(15) and clinical manifestations of severe psychmoter retardation, epilepsy, and pigmentary dysplasia showing mottled and linear patterns of hyperpigmentation. His karyotype was 47,XY,+idic(15)(pter→q14::q14→pter)[38]/46,XY[12] de novo. Chromosomal fluorescence in situ hybridization (FISH) showed six copies of the P gene. Therefore, his cutaneous mosaicism might be caused by the presence of both normal and hyperpigmented skin due to multicopies of the P gene. © 2003 Wiley‐Liss, Inc.
Impact on couple relationships of predictive testing for Huntington disease: A longitudinal study
Authors: Richards Fiona , Williams Katrina
Published: March 2004

Since predictive testing has been available for Huntington disease (HD) and similar adult‐onset neurodegenerative disorders, research into the psychosocial impact of test results has focussed on those receiving results, and to a lesser extent, on their partners. Few studies have examined the impact of predictive testing on the couple relationship, particularly from the perspective of family systems theory. This longitudinal study compared the level of marital adjustment of 23 couples in which the at‐risk partner is undergoing predictive testing for HD (the testing group) with that of 20 couples in which the at‐risk partner is not undergoing testing (the non‐testing group). Participating couples completed a relationship measure, the Dyadic Adjustment Scale, at baseline and on two subsequent occasions. Using non‐parametric tests, comparisons were made at each phase between the couple scores of the testing and non‐testing groups but no significant differences were found in the levels of marital adjustment. Within the testing group the same comparisons were made for the carrier and non‐carrier subgroups, and a significant difference was found at the final phase. There was an increase in the level of marital adjustment for the carrier group and a decrease for the non‐carrier group. Together with trends observed in the data, this finding suggests a need for greater attention to be given to the potential impact of predictive testing on the couple relationship. Offering couples pre‐result relationship assessment and referral for couple therapy, if warranted, may enhance the quality of professional support during the predictive testing process. © 2003 Wiley‐Liss, Inc.
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey
Authors: Machado‐Ferreira Maria do Carmo , Costa‐Lima Marcelo A. , Boy Raquel T. , Esteves Gabriela S. , Pimentel Márcia M.G.
Published: March 2004

Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5′ UTR region of the gene FMR‐1. Four types of alleles can be identified in the population, based on the number of repeats: normal (6–40), gray‐zone (41–60), premutated (61–200), and fully mutated (>200). Despite only full mutations being associated with the development of the disorder, some authors propose a correlation between FRAXA premutation and the occurrence of premature ovarian failure (POF). We have undertaken a study in 58 women from 24 fragile X syndrome families ascertained for FRAXA testing. Using Southern blotting for direct DNA analysis we have identified 19 normal, 33 premutation carriers, and 6 fully mutated individuals (including 4 somatic mosaics showing premutated and fully mutated alleles). Among the premutated women, 11 experienced menopause before the age of 40 (POF), including one somatic mosaic, which was different from the ones with normal pattern who did not experience POF. Our data corroborate the notion that females carrying alleles in the premutation range are at high risk of experiencing POF. © 2004 Wiley‐Liss, Inc.
Sibpair studies implicate chromosome 18 in essential hypertension
Authors: Rutherford Sue , Johnson Matthew P. , Griffiths Lyn R.
Published: March 2004

Interest in chromosome 18 in essential hypertension comes from comparative mapping of rat blood pressure quantitative trait loci (QTL), familial orthostatic hypotensive syndrome studies, and essential hypertension pedigree linkage analyses indicating that a locus or loci on human chromosome 18 may play a role in hypertension development. To further investigate involvement of chromosome 18 in human essential hypertension, the present study utilized a linkage scan approach to genotype twelve microsatellite markers spanning human chromosome 18 in 177 Australian Caucasian hypertensive (HT) sibling pairs. Linkage analysis showed significant excess allele sharing of the D18S61 marker when analyzed with SPLINK (P = 0.00012), ANALYZE (Sibpair) (P = 0.0081), and also with MAPMAKER SIBS (P = 0.0001). Similarly, the D18S59 marker also showed evidence for excess allele sharing when analyzed with SPLINK (P = 0.016), ANALYZE (Sibpair) (P = 0.0095), and with MAPMAKER SIBS (P = 0.014). The adenylate cyclase activating polypeptide 1 gene (ADCYAP1) is involved in vasodilation and has been co‐localized to the D18S59 marker. Results testing a microsatellite marker in the 3′ untranslated region of ADCYAP1 in age and gender matched HT and normotensive (NT) individuals showed possible association with hypertension (P = 0.038; Monte Carlo P = 0.02), but not with obesity. The present study shows a chromosome 18 role in essential hypertension and indicates that the genomic region near the ADCYAP1 gene or perhaps the gene itself may be implicated. Further investigation is required to conclusively determine the extent to which ADCYAP1 polymorphisms are involved in essential hypertension. © 2003 Wiley‐Liss, Inc.
Exclusion of candidate genes in a family with arterial tortuosity syndrome
Authors: Gardella Rita , Zoppi Nicoletta , Assanelli Deodato , Muiesan Maria Lorenza , Barlati Sergio , Colombi Marina
Published: March 2004

Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint laxity, suggestive of a connective tissue disorder. ATS is transmitted in an autosomal recessive mode, but the causal gene is unknown. We report an Italian pedigree with three inbred families in which five patients show signs of ATS. In particular, four adult patients present arterial tortuosity and elongation of the main arteries. Two of these patients, with the most severe degree of arterial tortuosity, also show severe peripheral stenosis of the main pulmonary artery. The fifth young patient shows a severe pulmonary valve stenosis in the absence of arterial tortuosity. All patients show signs of Ehlers–Danlos syndrome (EDS): soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix (ECM) of fibronectin (FN) and of actin microfilaments in cultured skin fibroblasts. Linkage analysis of the genes involved in EDS and other connective tissue disorders, excluded COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, ADAMTS2, ELN, FN1, TNXA, and TNXB as candidate genes in the family under study, thus indicating that ATS is a distinct clinical and molecular entity. © 2003 Wiley‐Liss, Inc.
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome
Authors: von Bubnoff Dagmar , Kreiß‐Nachtsheim Martina , Novak Natalija , Engels Eva , Engels Hartmut , Behrend Claudia , Propping Peter , de la Salle Henri , Bieber Thomas
Published: March 2004

We describe a 34‐year‐old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. Chromosome analysis disclosed a mosaic 46,XY,del(11)(q24.1)/46,XY karyotype with a very low percentage of normal cells. In addition, transverse upper limb defect, imperforate anus, and hearing impairment were noted. Cellular anomalies include functional impairment and deficiency of T‐helper cells, and a low serum immunoglobulin M (IgM)‐level. The presence of a transverse limb defect and primary immunodeficiency has not been reported previously in Jacobsen syndrome. © 2003 Wiley‐Liss, Inc.
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
Authors: Brunetti‐Pierri Nicola , Mendoza‐Londono Roberto , Shah Maulik R. , Karaviti Lefkothea , Lee Brendan
Published: March 2004

We report a 16‐month‐old patient with meningoencephalocele, absence of the radii, ambiguous genitalia, and transient neonatal thrombocytopenia. The phenotype strongly suggests the von Voss‐Cherstvoy syndrome. Thrombocytopenia was present during the first 2 weeks of life and not found in subsequent determinations. This observation suggests that thrombocytopenia is a transient part of the syndrome. Among the patients reported so far our case appears to represent the mildest phenotype. Despite the neonatal complications and meningoencephalocele, the patient currently has normal psychomotor development. © 2003 Wiley‐Liss, Inc.
Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations
Authors: Dörk Thilo , Bendix‐Waltes Regina , Wegner Rolf‐Dieter , Stumm Markus
Published: March 2004

Ataxia‐telangiectasia (A‐T) is caused by mutations of the ATM gene, the product of which is involved in the regulation of cellular responses to radiation damage. Ataxia usually starts in early childhood but a delayed age at onset and slower rate of neurological deterioration has been found for some patients with variant A‐T. Only few patients have been documented to survive into the 4th decade. We report on a patient with an attenuated form of A‐T who was diagnosed as having A‐T by the age of 52 years and died by the age of 60 years. He was found to be a compound heterozygote for a double missense mutation (D2625E and A2626P) and a novel splicing mutation (496 + 5G → A) of the ATM gene. Cytogenetic studies of the patient's lymphoblastoid cells revealed modest levels of bleomycin‐induced chromosomal instability. Residual ATM protein was found at a level of 10–20% of wildtype. Low residual ATM kinase activity could be demonstrated towards p53, whereas it was poorly detectable towards nibrin. Our results corroborate the view that the clinical variability of A‐T is partly determined by the mutation type and indicate that A‐T can extend to late adulthood disease. © 2003 Wiley‐Liss, Inc.
Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins
Authors: Cunha E. , Rozzi F. Ramirez , Bermúdez De Castro J.M. , Martinón‐Torres M. , Wasterlain S.N. , Sarmiento S.
Published: March 2004

This study presents an analysis of linear enamel hypoplasias (LEH) and plane‐form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7–30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning. Am J Phys Anthropol 123:000–000, 2004. © 2004 Wiley‐Liss, Inc.
Production of polymeric membranes made of polypropylene, poly(ethylene‐co‐vinyl acetate), and poly(vinyl alcohol)
Authors: Maciel A. , Aguilar M. , Luis A. , Manero O.
Published: March 2004

In this study, we prepared and characterized membranes containing polypropylene, poly(ethylene‐co‐vinyl acetate) (EVA), and poly(vinyl alcohol) (PVA). The production process involved blend extrusion and calendering followed by solvent extraction by toluene and water of the EVA and PVA phases. Morphology studies involving scanning electron microscopy determined the pore size distribution at the surface and in the internal regions of the membrane. The resulting membrane properties were related to the processing variables (extension rate, process temperature, and solvent extraction methods) and blend composition. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3275–3286, 2004
Preparation and structural characterization of melamine–methylurea–formaldehyde resin and its blends separately with ethyl cellulose, starch, teakwood, and almond shell powders by 13C NMR, IR, TGA, and SEM techniques
Authors: Singh Man
Published: March 2004

Melamine–methylurea–formaldehyde (MMUF) polymer resin was prepared by condensation polymerization and the molecular weight was determined by viscometry. It was blended with dried starch and ethyl cellulose, and cellulose and hemicellulose‐rich teakwood and lignocellulose‐rich almond shell dried powders separately. The structural characterization of resin with 13C NMR and IR spectroscopy, and morphological studies on the resin and blends were undertaken with thermogravimetric analysis (TGA) and Scanning Electron Microscopy (SEM). The micrographs of the starch and ethyl cellulose have found resemblance with pure resin while teakwood and almond powders have been found to differ in structure from starch and ethyl cellulose due to crack masks in the bulk structure. The different weight loss at different temperatures of the blends was observed, which proves that blending materials do control the weight loss of resin with TGA or curing. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3437–3446, 2004
Synthesis and properties of new poly(amide imide)s containing trimellitic rings and hydantoin moieties in the main chain under microwave irradiation
Authors: Faghihi Khalil , Hajibeygi Mohsen
Published: March 2004

Trimellitic anhydride was reacted with 4,4′‐diaminodiphenyl ether in a mixture of acetic acid and pyridine (3 : 2) at room temperature and was refluxed at 90–100°C, and N,N′‐(4,4′‐diphenylether) bistrimellitimide (3) was obtained in a quantitative yield. 3 was converted into N,N′‐(4,4′‐diphenylether) bistrimellitimide diacid chloride (4) by a reaction with thionyl chloride. Then, six new poly(amide imide)s were synthesized under microwave irradiation with a domestic microwave oven through the polycondensation reactions of 4 with six different derivatives of 5,5‐disubstituted hydantoin in the presence of a small amount of a polar organic medium such as o‐cresol. The polycondensation proceeded rapidly and was completed within 7–10 min, producing a series of new poly(amide imide)s in high yields with inherent viscosities of 0.27–0.66 dL/g. The resulting poly(amide imide)s were characterized by elemental analysis, viscosity measurements, differential scanning calorimetry, thermogravimetric analysis, derivative thermogravimetry, solubility testing, and Fourier transform infrared spectroscopy. All the polymers were soluble at room temperature in polar solvents such as N,N‐dimethylacetamide, N,N‐dimethylformamide, dimethyl sulfoxide, tetrahydrofuran, and N‐methyl‐2‐pyrrolidone. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3447–3453, 2004
Thermal behavior of some homogeneously polymethyl methacrylate (PMMA)‐grafted high α‐cellulose products
Authors: Das Pradeep , Saikia C. N. , Dass N. N.
Published: March 2004

The graft copolymerization of methyl methacrylate (MMA) onto high α‐cellulose was carried out homogeneously in an N,N‐dimethyl acetamide/lithium chloride solvent system by using benzoyl peroxide as radical initiator. The rate of grafting was evaluated as a function of concentrations of initiator and monomer, reaction time, and temperature. The grafted products were characterized with the help of infrared spectroscopy, whereas the thermal decomposition of optimum PMMA‐grafted high α‐cellulose was studied using TGA, DTG, and DTA techniques at two heating rates, 10 and 20°C/min, in nitrogen atmosphere in the range of room temperature to 650°C. Three major decomposition steps were identified and the relative thermal stabilities of the PMMA‐grafted high α‐cellulose products were assessed. The kinetic parameters for the three decomposition steps were estimated with the help of two well‐known methods. The thermal stability of the grafted products decreased with the increase of graft yield (GY). Crystallinity or peak intensity of wide‐angle X‐ray diffraction patterns decreased with the increase of GY. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3471–3478, 2004
Synthesis and characterization of hetarylazo disperse dyes derived from substituted N‐β‐acetoxyethylanilines—Application on cellulose acetate
Authors: Georgiadou Kyriaki L. , Tsatsaroni Eforia G. , Kehayoglou Aristides H.
Published: March 2004

The heterocyclic amines 2‐amino‐6‐methoxy‐ and 2‐amino‐6‐nitrobenzothiazole, 3‐amino‐5‐nitro‐[2,1]‐benzisothiazole, and 2‐amino‐3,5‐dinitrothiophene were diazotized and coupled to substituted N‐β‐acetoxyethylanilines to give dyes which colored cellulose acetate in red to deep blue hues. The color of the dyes is discussed with respect to the nature of the heterocyclic ring and to the substituents in the diazo and coupling component. Dyeing and fastness properties of the dyes on cellulose acetate are also reported. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 3479–3483, 2004