bluuebunny/crossref_metadata_2025 huggingface dataset:
The Role of Parents in Developing Reading Comprehension Skills in Primary School Students
Authors:   Azərbaycan Respublikasının Təhsil İnstitutu, Rasulova Ilaha
Published: April 2024

By exploring the psychoeducational potential of parents, educators and researchers can better understand how to support parents in their role as their children's first and most important teachers. This knowledge can be used to develop interventions that help parents develop the skills and knowledge needed to support their children's learning and development. The formation of the pedagogical culture of a modern Azerbaijani family is a complex and continuous process. However, the country strives to provide its children with the best education possible. A strong emphasis on family, a rapidly modernizing society, and the government's commitment to excellence in education are important factors shaping the teaching culture of the Azerbaijani family.
Rise of Online Food Businesses: Probing its Growth and Longevity as a Business Entity
Authors:   Asian Institute of Maritime Studies, Vizconde Lovely
Published: April 2024

This research explores the perception of consumers on the factors influencing online food-related businesses’ growth and longevity. The respondents were 100 randomly selected residents living in Mandaluyong City. The study investigated several dimensions associated with online food businesses’ success, including technology, cash-on-delivery (COD) payment systems, and consumer reach. Findings showed that business owners and consumers perceive technology as a primary factor for the success of online food businesses. The agreement on the use of technology indicates that the widespread adoption of technology promotes consumer’s ease of access while promoting operational efficiency for the business owners. Additionally, it was also evident that consumers prioritize convenience and security as facilitated by the strong preference for COD payment systems, which incorporates cash as a primary mode of payment. Similarly, the findings showed that consumers’ perception of the factors contributing to online businesses’ sustainability align in all aspects. The findings of this study were likewise consistent with the participants’ occupation and food preferences.
EXPLORING THE RELATIONSHIP BETWEEN WORK ENVIRONMENT AND WELL-BEING OF MEDICAL REPRESENTATIVE: A STUDY IN BELAGAVI CITY.
Authors: Gasti Dr. Devata
Published: April 2024

This study seeks to examine how the work environment impacts the well-being of Medical Representative, which is crucial for the effective provision of healthcare services and the sustainability of the healthcare system. The research will utilize a quantitative research approach to explore the relationship between various factors of the work environment and the well-being of Medical Representative. The independent variable in this study is the work environment, while the dependent variable is the well-being of Medical Representative. The research will involve conducting in-depth interviews with 180 Medical Representative to gain a deeper understanding of their experiences and perceptions regarding how the work environment influences their well-being. To ensure the reliability of the questionnaire designed on a Likert scale, Cronbach's alpha will be applied. The findings of the study will be derived through the use of descriptive statistics and correlation analysis.
CONSUMER BUYING BEHAVIOUR TOWARDS PRIVATE LABELS IN HOME HYGIENE PRODUCTS CATEGORY.
Authors: Vaz Jemson , Jadhav Sangam
Published: April 2024

This paper attempts to understand and highlight the buying behaviour of the consumers towards the Private Label (PL) products in Home Hygiene Products (HHP) in Belagavi. The growth of retail sector post globalization encouraged retailers to come out with their own multiple forms of products which are marketed by them but not manufactured. The resultant was the emergence of Private Label products in variety of segments. This paper tends to bring up the attributes of the consumers towards buying these PL products and tries to emphasize their buying behaviour. The current study aims to identify factors of PLs which have an impact on the consumers purchase intentions. The cleaning products and the products with chemical composition which are not for personal use are considered for the study. Consumers buying behaviour was analyzed with their intensions which influenced the purchase. The main motives behind the introduction of PLs were to fulfill customer needs and increase retailers profit share. The research attempts to examine the different factors that influence consumers' purchasing intentions of private label products among the residents at Belagavi area. Five important factors were identified; they are collectivist culture, perceived risk, price, quality and store loyalty. Collectivist culture and perceived risk were found out to be important background factors which affect the other three factors. Furthermore, the result shows that price and quality of private label brands are highly related as most of the target consumers tend to associate expensiveness with high quality and vice-versa. However, it was also seen that the store image has some effect towards the consumers being loyal (Belagavi residents) in purchasing the Private Labels.Key words Private label brands, manufacturer brands, collectivist culture, perceived risk, price and quality, store loyalty, store image.
NIGERIAN CIVIL SERVANTS’ ADOPTION OF ELECTRIC VEHICLES: MEDIATING ROLE OF SOCIAL SYSTEM NORMS IN PERSPECTIVE.
Authors: Fagbuyi Ayenumelo Olamigoke , Ajila Moriliat Ibiwumi , Moriliat Ibiwumi , Adegbola Eunice Abimbola
Published: April 2024

The aim of this study is to ascertain how social system norms mediate the relationship between other exogenous variables and Nigerian civil servants' adoption of electric vehicles (EVs). It is a descriptive research design cross-sectional study. Data from a sample of 924 respondents in Abuja, Federal Capital Territory, was gathered through a survey. A 5-point Likert scale was used in the questionnaire's design. The study used structural equation model for data analysis after random sampling was employed to collect the data. The Statistical Package for Social Science (SPSS) and SmartPLS V4.0.9.5 were used to perform both descriptive and inferential statistics. The results indicate that social system norms have a positive and significant mediating function on perceived certainty, ease of use, knowledge, relative advantage, subjective norms, usefulness, and adoption of electric vehicles (EVs), with the exception of perceived compatibility with deviant relationships. We recommend that civil servants be encouraged by government policy to form cooperative societies so they can obtain financing for the purchase of electric vehicles at subsidised prices.
TO EXAMINE HOW THE SELECTED SUGAR INDUSTRIES OF BELGAVI DISTRICT ARE MOTIVATING & ENHANCING PSYCHOLOGICAL CAPITAL OF THEIR EMPLOYEES.
Authors: Patil Dr. S. C. , Killedar Ramchandra
Published: April 2024

This research paper investigates how selected Sugar Industries motivate their employees and enhance Psychological capital. The study includes a qualitative case study approach focusing on selected Sugar Industries of Belgavi district. Data collection involved Personal Interviews with employees at various levels. Quantitative analysis was used to identify key factors and determinants related to employee motivation and their psychological capital. The finding reveals a range of motivation strategies used by the selected Sugar Industries includes motivators like job design, career growth, opportunities, work like balance, recognition, reward and autonomy. The study further demonstrates how these strategies contribute to the four dimensions of psychological capital : Hope, Self efficacy, Resilience and Optimism (Hero) . The study also examines the impact of poor Psychological capital on motivation. This study aims to investigate how selected sugar industries are motivating and enhancing psychological capital of the employees. The research paper concludes by proposing recommendations for improving the Psychological capital of employees in the Sugar Industries.
Factors affecting stress levels during COVID-19 pandemic among village health volunteers in rural areas, Thailand
Authors: Jongsuksiri Suchada , Kanokthet Thanach
Published: April 2024

Background: Village Health Volunteers (VHVs) played vital role during the COVID-19 pandemic. They had to provide primary health care to people both with and without COVID-19. 
Objectives: This study aimed to assess stress levels during the COVID-19 pandemic and factors affecting stress among VHVs in rural areas, in Thailand.
Method: A cross-sectional survey was employed in this study. A total of 204 samples were selected randomly with simple random sampling. They were village health volunteers who worked in rural areas (Phichit Province). The questionnaire consisted of five parts and was used to assess: (1) Personal factors (2) Work-related factors (3) Organizational factors (4) Health-related factors and (5) Stress levels developed by the Department of Mental Health (SPST- 20). Data were analyzed using frequency, percentage, mean, standard deviation, and multiple regression analysis.
Results: Most of the respondents were female (74%), and the age of all respondents ranged from 47 to 58 years (37.7%). Nearly one-third (28.9%) were married. The majority of the respondents attained secondary school (76%) and were agriculturists (50.5%). Their annual income ranged from 50,000 to 100,000 baht ($1372.12 to $2744.24). Approximately two-third (63.2%) reported that they had been working as VHVs in the range of 5-15 years. Additionally, a high-stress level was reported with the highest proportion (41.16%). Regarding the multiple regression analysis, it was found that factors related to stress levels of the VHVs in rural areas were working condition (β = -1.649, p< 0.001), social support (β = 2.540, p< 0.001), psychological aspect (β = -4.233, p< 0.001), and physical aspect (β = 1.233, p< 0.001). These factors were utilized to predict 52.10% (R2 = 0.521, Adj. R2 = 0.512) of the stress levels during the COVID-19 pandemic among the VHVs.
Conclusion: Factors affecting stress levels of the VHVs in the rural areas were working conditions, social support, psychological aspect, and physical aspect.
The Evaluation of Quality Improvement Criteria of Tambon Health Promoting Hospital (Star Hospital), Surat Thani Province
Authors: Sangkom Suwadee
Published: April 2024

Background: Thailand government has announced a policy to improve the health service system to have better quality and be more effective. Surat Thani Provincial Public Health Office has operated according to the policy of assessment and development for the quality criteria of Star sub-district health promoting hospital which has been operating since 2017. There is still a lack of information about factors related to operations and satisfaction of the service users to support the management system. To provide people with equal access to services, it is necessary to assess the quality development of Star Hospital.
Objectives: This evaluation study aimed to evaluate the quality improvement criteria of Tambon Health Promoting Hospital (Star Hospital) in Surat Thani Province.
Methods: 166 places of Tambon Health Promoting Hospital of Surat Thani have been selected by using work manual for quality improvement criteria of Tambon Health Promoting Hospital (Star Hospital) between 2019-2021. 17 directors of Tambon Health Promoting Hospital were interviewed in-depth and 68 staffs responded the questionnaire including context, input, process and outcome of an operation of Star Hospital criteria. 400 participants responded the perception of self-care and satisfaction questionnaire. Descriptive statistics including frequency percentage, mean, minimum, maximum and standard deviation were used to analyze the data and content analysis were used to analyze the quantitative data.
Results: CIPP model observed that the hospital has a policy with clear guideline for development, has developed infrastructure and people have access to more services resulting in reduction of the use of outpatient services. However, there were insufficient staffs, no multidisciplinary team and budget, no MOU for working group at the district level, limited integration with partners. The level of Star Hospital criteria was high of context, input, process and product with average score of 18.6 (S.D=2.2), 34.1 (S.D=2.9), 39.3 (S.D=3.9) and 30.3 (S.D=2.9) respectively. Similarly, part of perception of self-care were high levels with 58.5% average score 13.7 (S.D=2.9, Min -Max =14-17). The satisfaction scores were high level with 95.3% average score 61.2 (S.D = 4.6, Min-Max= 38-66).
Conclusion: Inputs should be provided including; personal, budget and material from network hospital for developing quality of service system and enhancing participation from all sectors including public sector, private sector, and people in the community
Assessment of quality of life and dietary practices of Type2 Diabetes patients in Bharatpur Metropolitan City, Chitwan
Authors: Paudel Sulaksha , Banstola Pragya , Thagunna Rabina Kumari , Yadav Dipendra Kumar
Published: April 2024

Background: Diabetes is one of the rapidly increasing non-communicable diseases and largest global health emergencies of the 21st century. It is associated with changes in lifestyle and resulting in less physical activity and increased obesity.
Objectives: This study aimed to assess the Quality of life and dietary practices among type 2 diabetes patients and associated factors with food consumption practices.
Methods: A cross-sectional study was conducted among the type2 diabetes patients with sample size of 236. Consecutive sampling technique was used for the selection of participants. Interview schedule was used for doing face to face interview. Diabetes-39 questionnaire was used as a tool for assessing the quality of life of the participants. Nepali version of the D-39 instrument was pre-tested among 10% of total sample in Aasha Hospital, Chitwan to check its simplicity and Morisky medication adherence scale was used to find out the dietary practices.
Results: The higher population of diabetes was observed among age group 50-59 and majority of participants were female. Only few numbers of the participants had dietary plan (33.1%) and among them 66.7% of the participants were following their dietary plan routine. More than half of the participants had good quality of life and nearly half of the participants had good dietary practices. Sex, education, those who used to take eggs, fruits, vegetables, milk were associated with the quality of life.
Conclusion: This study highlights the importance of implementing and adhering to dietary plans for individuals with diabetes. It emphasizes the need for empowering women to improve their quality of life. Additionally, family support and education play significant roles in managing diabetes and enhancing quality of life.
Colorectal cancer survival in Thailand
Authors: Monkhan Nattayakorn , Phimha Surachai , Prasit Nakarin , Senahad Nopparat , Pinsuwan Chanaporn
Published: April 2024

Background: Colorectal cancers are third among the world's most common cancers. Among the top five most common malignancies in Thailand, colorectal cancer primarily affects the elderly but affects persons of all ages as well. In addition, its incidence is rising yearly.
Objectives: This retrospective cohort study aimed to describe the survival rate of Colorectal cancer patients in Thailand.
Methods: The study used secondary data from the Ministry of Public Health between 2013 and 2020, a total of 57,321 cases were enrolled. Descriptive statistical analysis and inferential statistical analysis were performed by Cox regression analysis to observe survival rate estimate, Kaplan-Meier Survival estimate with 95% CI.    
Results: Among the total participants, 51.28% were male. Female survival rate was 9% higher than male Colorectal cancer patients (HR = 0.91, 95% CI: 0.86-0.94). The Colorectal cancer patients who were aged 61-70 years were more likely to pass away than patients aged £ 60 years (HR= 1.25, 95% CI:1.17- 1.34). Similarly, Colorectal cancer patients aged ≥70 years were more likely to have demise 1.58 times earlier than patients aged  £ 60 years (HR= 1.58, 95% CI: 1.49-1.68).
Conclusion: The survival rate of patients with colorectal cancer was significantly affected by gender. In addition, age was one of the variables which is also statistically significant that impacted on the colorectal cancer patient survival rate. Therefore, the formulation of screening policies for colorectal cancer in targeted populations, particularly in elderly should be established to support colorectal cancer prevention and reduce the risk to achieve a greater health impact among them.
Correlation between Physical properties and sensory evaluation of Extruded Phyto-snack.
Authors: Nuchsai Thasanee , Sakphisutthikul Chutikan
Published: April 2024

Background: Snack products are ubiquitous in modern dietary habits, and their sensory attributes play a critical role in consumer preferences. The texture of snacks is characterized by fracturability, hardness, and chewiness which influences consumer’s acceptance. This study focused on investigating the interplay between the physical properties of an extruded snack product and its sensory attributes.
Objectives: This present study aimed to explore the potential correlations between these texture profiles and sensory attributes.
Methods: Texture profile analysis was employed to measure the snack's fracturability, hardness, and chewiness. A panel of 100 participants was engaged in sensory evaluation, using a hedonic scale to rate the snack's attributes. Pearson's correlation coefficient was employed to investigate potential associations between the texture profile and sensory attributes.           
Results: The physical properties, including fracturability (35.266±0.58 N), hardness (52.611±0.73 N), and chewiness (15.89±3.36) were determined through Texture Profile Analysis (TPA). Concurrently, sensory attributes were evaluated by a panel of 100 untrained assessors. The sensory ratings for fracturability (4.58±0.87), hardness (4.21±0.98), chewiness (3.87±1.25), appearance (4.30±1.06), overall tasting (4.15±0.61), overall liking (4.56±0.94), and overall acceptance (4.40±1.31) provide valuable insights into the product's sensory appeal. The correlation values between the TPA data and sensory were attributes of the extruded snack product. Pearson's correlation coefficients revealed significant relationships between physical properties and sensory attributes. Notably, fracturability exhibited a strong positive correlation with fracturability in sensory evaluation (r = 0.776, p < 0.05). Similarly, hardness demonstrated moderate positive correlations with both fracturability (r = 0.452, p < 0.05) and chewiness (r = 0.687, p < 0.05), while chewiness was moderately correlated with fracturability (r = 0.634, p < 0.05) and hardness (r = 0.769, p < 0.05).
Conclusion: The findings revealed valuable insights into the food industry, emphasizing optimizing texture characteristics to enhance snack products' sensory appeal and satisfy consumer preferences. Further study in this domain may explore additional factors influencing sensory perception and refine the snack’s textual attributes for enhanced consumer satisfaction.
Menstrual health affecting school absenteeism during menstruation among adolescent girls in Nepal
Authors: Shrestha Shrinkhala , Paudel Pratiksha , Manandhar Reetu
Published: April 2024

Background: Girls' adolescence, characterized by multiple changes and the significant one, is the initiation of menarche. Despite being the natural regular normal process, there are some menstrual abnormalities female adolescents may encounter in their life. Inability to manage those anomalies efficiently can affect physical, psychological, and emotional well-being, including their education because of school absenteeism.
Objectives: The main aim of the study was to assess characteristics of menstruation and examine its association with school absenteeism among adolescent girls in Nepal.
Methods: A quantitative, community based cross sectional analytical study was conducted among 317 adolescent girls who had already experienced menstruation in 11 different study sites. The questionnaire was self-administered by adolescent girls which was collected on the same day as data collected. Collected data were entered in Epi-data version 3.1 which was further imported to SPSS for further analysis. Multiple logistic regression analysis was used to examine association between school missed due to menstruation and menstrual characteristics.  
Results: The study showed the mean age of menarche as 12.9±0.97 years. The majority of adolescent girls (89.6%) had normal length of menstrual cycle whereas 42.0% of them had moderate amount of bleeding, and 35.3% of them had irregular menstruation cycle. Concerning the menstrual symptoms, adolescent girls experienced depressed mood (30.6%), rapid mood change (24.0%), and dizziness (15.31%). Almost half (46.7%) of adolescent girls had missed school due to menstruation.  Dysmenorrhea (AOR=1.75, 95% CI=1.08-2.83), experience of lower back pain (70.8%, AOR=2.81, 95% CI=1.11-7.10), dizziness (72.0%, AOR=2.82, 95% CI=1.12-7.10), and use of clothes as absorbent (50.6%, AOR=1.87, 95% CI=1.04-3.38) during menstruation were found significantly associated with missing school during that period.
Conclusion: Majority of adolescent girls had normal menstruation however there are still many experiencing various menstrual issues which influence school absenteeism during menstruation.
HUMAN RESOURCE MANAGEMENT IN THE CONDITIONS OF GEOPOLITICAL CHANGES
Authors: Zelenović Jelena , Malenković Nebojša
Published: April 2024

For businesses, geopolitics is observed and addressed at the national and regional levels. Given that human resources play a central role in the functioning of enterprises, the ongoing challenge is to employ a variety of human resource management practices in response to crises. Therefore, organizational human resource management policies deserve a strong examination in terms of their impact on the business of enterprises, especially in times of crisis, as a result of geopolitical changes. The paper presents a survey on the attitudes of employees, and it was done on the territory of the Republic of Serbia, through a questionnaire. The questionnaire was distributed via a link, where the questions were with the answers offered, and also presented through the five-point Likert scale. The results are calculated through the SPSS program. Research can serve as a backbone for businesses to improve human resource management, especially in times of crisis. In accordance with the received answers, companies will get an insight into the importance of employee attitudes, and guidelines for further growth and development.
An approach for offloading with multi-hop considerations in an RSU signal overlay setting
Authors: Lousada Efrem Eladie de Oliveira , Figueiredo Fátima de Lima Procópio Duarte
Published: April 2024

In recent years, significant advancements in vehicle technology have spurred growing interest in Vehicular Ad hoc Networks (VANETs). This interest is driven by concerns for road safety and the need to alleviate network congestion, leading to the emergence of Intelligent Transport Systems (ITS). ITS focuses on improving road traffic management and safety through the utilization of wireless and mobile network communication technologies. VANETs play a pivotal role within the realm of ITS, facilitating tasks such as enhancing road safety, traffic monitoring, and ensuring passenger comfort by mitigating accidents and congestion. These objectives rely on the timely and accurate delivery of data to vehicle agents and relevant authorities, facilitated by reliable VANETs and Road Signal Units (RSUs). Achieving this necessitates identifying optimal routes with minimal distance, high radio access, and quality-awareness levels. To address these objectives, this study proposes the utilization of the Congestion Network with Predicted K-means multi-hop RSU algorithm (CN-MHMR) to enhance vehicular networking and communication. This algorithm facilitates efficient node transfer from base nodes to destination nodes via the shortest and energy-efficient paths, thereby enabling viable and reliable vehicular communications. The performance of the proposed model was evaluated based on various metrics, including energy consumption, throughput, delay, packet delivery ratio, accuracy, precision, and recall values.
Strengthening Industry-academia Collaboration for Improved Fashion Education
Authors: Zanu Joana Akweley , Appiah Ninette Afi , Amegbanu Vida Adjo
Published: April 2024

This study explores the perspectives of fashion professionals on enhancing fashion education. Through semi-structured interviews with industry experts, insights were gathered regarding the alignment between the skills taught in fashion education programmes and the skills demanded by the industry. The study employed the qualitative design and thematic analysis. It involved seven participants. The methodology employed in this study ensured a personal and in-depth understanding of Ghanaian fashion professionals' perspectives. Additionally, the strengths and weaknesses of the current fashion education system were examined, along with key recommendations for improving the curriculum. The Industry-Academia Collaboration Theory served as the theoretical framework, emphasising the importance of collaboration between educational institutions and the fashion industry. The, the results revealed that while the current system excels in nurturing creativity, design skills, and cultural appreciation, there is need for a more industry-relevant curriculum that focuses on the integration of practical and technical skills, an emphasis on business and entrepreneurship education, and the establishment of stronger industry partnerships and internship programmes. These findings provide valuable insights for policymakers, educators, and stakeholders in the fashion education sector to enhance the educational experience and better prepare students for successful careers in the fashion industry.
Type Abundance and Relative Abundance of Macrozoobentos in the Intertidal Zone of Marabatuan Island, Kotabaru, Indonesia
Authors: Tony Frans , Rifa'i Muhammad Ahsin , Baskara Muhammad Wisnu , Kudsiah Hadiratul , Iskandar Rina
Published: April 2024

The structure of macrozoobenthos communities plays a crucial role in aquatic ecosystems because most of them are in the second or third trophic level. Components of macrozoobenthos community structure include species and abundance, species diversity index, species uniformity index, dominance index. The research aims to analyze species abundance and relative abundance of macrozoobenthos in the intertidal zone of Marabatuan Island, Kotabaru, Indonesia. The research location is on Marabatuan Island, Pulau Sembilan District, Kotabaru Regency, South Kalimantan Province. The highest relative abundance (KR) was at station 3, namely the species Ophiocoma erinaceus, from the Asteroidea class, the second highest value was at station 2 with the species Holothuria atra and at station 1 of the same species, namely Holothuria atra from the Asteroidea. The lowest relative abundance was at station 1 of the Linckia laevigata species. The Diversity Index (H') of macrozoobenthos at all stations is in the medium criteria.
bom e velho tema para um novo livro
Authors: Santos Igor Gomes
Published: April 2024

Resenha de:BEZERRA, José Maia Neto. Fugindo, sempre fugindo. Escravidão, fugas escravas na Amazônia Brasileira (1840-1888). Teresina: Cancioneiro, 2023. 364 p.
Supramolecular Assembly of Perylene Bisimide with β‐Cyclodextrin Grafts as a Solid‐State Fluorescence Sensor for Vapor Detection
Authors: Liu Yu , Wang Ke‐Rang , Guo Dong‐Sheng , Jiang Bang‐Ping
Published: May 2009

A nanoscopic supramolecular aggregate is constructed from perylene bisimide‐bridged bis‐(permethyl‐β‐cyclodextrins) 1 via π–π stacking interactions. Its self‐assembly behavior in organic and aqueous solutions is investigated by UV–Vis, fluorescence, and 1H NMR spectroscopy. Transmission electron microscopy and scanning electron microscopy images show the 1D nanorod aggregation of 1, which is birefringent under crossed polarizer conditions and strongly fluorescent as depicted in the fluorescence microscopy image. X‐ray powder diffraction measurements indicate that 1 forms a well‐ordered crystalline arrangement with a π–π stacking distance of 4.02 Å. Furthermore, the solid‐state fluorescence sensing is explored by utilizing the poly(vinylidene fluoride) membrane‐embedded 1, giving that 1, as a novel vapor detecting material, can probe several kinds of volatile organic compounds and, especially, exhibits high sensitivity to organic amines.
Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: Phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?
Authors: Parisi Melissa A. , Zayed Hatem , Slavotinek Anne M. , Rutledge Joe C.
Published: May 2009

A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with congenital diaphragmatic hernia (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, cleft palate, congenital heart defect, digital anomalies, and dysmorphic facial features. Pulmonary hypoplasia resulted in death at day 2 of life. She was presumed to have Fryns syndrome based on diagnostic criteria established for this recessive disorder with prominent features including CDH, facial anomalies, and nail hypoplasia. In retrospect, this infant's findings are more likely the result of teratogenic exposure to MMF, as more recent data have emerged linking aural atresia, digital anomalies, and dysmorphic features to this drug. To date, this is the only human report of CDH in an infant with prenatal exposure to MMF, although the manufacturer's package insert alludes to animal studies with a broad spectrum of malformations, including CDH. Thus, a teratogenic exposure can mimic a known Mendelian genetic syndrome, and caution is urged in presuming a genetic etiology for infants with potential teratogenic exposure to relatively new drugs with limited published animal data. © 2009 Wiley‐Liss, Inc.
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
Authors: Van Zutven Laura J.C.M. , van Bever Yolande , Van Nieuwland Carolien C.M. , Huijbregts Gido C.M. , Van Opstal Diane , von Bergh Anne R.M. , Corel Linda J.A. , Tibboel Dick , Wouters Cokkie H. , Poddighe Pino J.
Published: May 2009

We present a family with multiple cytogenetic abnormalities, identified through a girl with several dysmorphic features and cardiac problems, suspected for Jacobsen syndrome. Cytogenetic analysis showed a 46,XX,del(11)(qter) karyotype, which was confirmed by fluorescence in situ hybridization (FISH). Cytogenetic investigation of the parents showed a chromosome aberration in both: the father had a t(11;12)(p13;q22) translocation and the mother was carrier of an ins(4;11)(p14;q24q25). FISH analysis with an 11q‐subtelomeric probe from the second‐generation telomere clone set and BACs from 11q24‐q25 suggested a complex maternal rearrangement. However, subsequent array analysis showed a single interstitial deletion in the proband, derived from the maternal insertion. The aberrant karyotypes in both parents implicated an increased risk of unbalanced fetal chromosome composition, thus high risk for a child with multiple congenital abnormalities. Therefore, during the next pregnancy, the couple opted for prenatal diagnosis by means of amniocentesis. An interphase FISH strategy for uncultured amniotic fluid cells predicted two possible unbalanced fetal chromosome constitutions. Karyotyping of cultured amniotic cells confirmed one of the predicted unbalanced cytogenetic options, demonstrating the value of a fast interphase strategy for parents who both are carriers of a chromosomal abnormality. In addition, we present an overview of patients with Jacobsen syndrome and an interstitial 11q deletion reported thus far in literature. © 2009 Wiley‐Liss, Inc.
Impact of genetic advances and testing for hearing loss: Results from a national consumer survey
Authors: Withrow Kara A. , Tracy Kelly A. , Burton Sarah K. , Norris Virginia W. , Maes Hermine H. , Arnos Kathleen S. , Pandya Arti
Published: May 2009

Hearing loss is a common neuro‐sensory deficit; nearly 50% of children with hearing loss have a genetic etiology. With the discovery of 40 genes and more than 100 loci involved in hearing loss, genetic testing is becoming more widely available. The information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults, based on their prior knowledge and understanding of these advances. It is therefore important to clarify the feelings of these potential consumers towards genetic services for hearing loss and understand their goals for genetic testing. The present study evaluates the feelings of consumers towards the advances in the genetics of hearing loss, the motivations for pursuing testing, and the perceived impact testing may have on their lives. We surveyed 808 parents of children with hearing loss nationally and 156 young deaf adults at Gallaudet University. In this study, learning the etiology of the hearing loss was the most commonly cited motivation for pursuing genetic testing and for parents was the most commonly cited outcome that genetic testing may have on their children's lives. Culturally Deaf respondents were less likely to believe that genetic testing will impact their lives or their children's lives and were less likely to report positive feelings about advances in the genetics of hearing loss. Cultural affiliation and genetic testing status, rather than hearing status, contributed more to the participants' responses. © 2009 Wiley‐Liss, Inc.
Phenotypic and microscopic description of a new case of Ermine phenotype
Authors: Zarate Yuri A. , Pacheco M. Cristina , Bove Kevin E. , Gorlin Robert , Zhao Huiquan , Hopkin Robert J.
Published: May 2009

We describe a new case of Ermine phenotype. The patient had the striking pattern of skin and hair involvement that characterize the condition, global developmental delay, growth retardation, microcephaly, and bilateral hearing loss. Results of extensive workup for several other neurologic, metabolic, mitochondrial, genetic and chromosomal conditions were normal. Microscopic examination demonstrated normal numbers of melanocytes and variable amounts of pigment depending on the degree of pigmentation in the region biopsied. Ultrastructure of melanosomes was abnormal suggesting a defect in melanin synthesis. Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness. Therefore, this should be included as an independent condition in the differential diagnosis. Additional phenotypic and pathologic descriptions are needed to better define this condition clinically, pathologically, and genetically. © 2009 Wiley‐Liss, Inc.
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
Authors: Zahir Farah R. , Langlois Sylvie , Gall Kim , Eydoux Patrice , Marra Marco A. , Friedman Jan M.
Published: May 2009

We report on a 14‐year‐old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip® array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup‐shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype. © 2009 Wiley‐Liss, Inc.
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
Authors: Lecointre Claire , Pichon Olivier , Hamel Antoine , Heloury Yves , Michel‐Calemard Laurence , Morel Yves , David Albert , Le Caignec Cédric
Published: May 2009

Campomelic dysplasia (CD) is a rare autosomal dominant osteochondrodysplasia with or without XY disorders of sexual development (DSD). Campomelia is absent in about 10% of the cases, referred to as the acampomelic form of CD (ACD). Most CDs are caused by mutations within the SOX9 coding region. Several CD patients with balanced chromosome rearrangements involving the 17q24 region have been reported suggesting the presence of cis‐regulatory elements upstream and/or downstream of the gene. Deletions upstream of SOX9 represent a third mechanism of mutation. To date, a 1.5 Mb de novo deletion in the SOX9 upstream region has been identified in a single 46,XY patient with ACD and DSD. We report here for the first time on a familial ACD caused by an inherited deletion mapping upstream of the SOX9 gene. Using high‐density oligoarray comparative genomic hybridization (CGH), we showed that the size of the deletion was 960 kb in the XY‐DSD child and her mother, both affected. The deletion lying from 517 kb to 1.477 Mb upstream of SOX9 remove several highly conserved elements and reduce the minimum critical size and therefore the number of highly conserved sequence elements responsible for ACD. © 2009 Wiley‐Liss, Inc.
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis‐Noonan syndrome
Authors: Thiel Christian , Wilken Martin , Zenker Martin , Sticht Heinrich , Fahsold Raimund , Gusek‐Schneider Gabriele‐Charlotte , Rauch Anita
Published: May 2009

Neurofibromatosis‐Noonan syndrome (NFNS), an entity which combines both features of Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), was etiologically unresolved until recent reports demonstrated NF1 mutations in the majority of patients with NFNS. The phenotypic overlap was explained by the involvement of the Ras pathway in both disorders, and, accordingly, clustering of the NF1 mutations in the GTPase‐activating protein (GAP) domain of neurofibromin was observed in individuals with NFNS. We report on an 18‐month‐old girl with typical findings suggestive of NS in combination with multiple café‐au‐lait spots and bilateral optic gliomas suggestive of NF1. The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café‐au‐lait spots as the only sign of neurofibromatosis. Since our patient's unique NF1 mutation results in skipping of exon 27a and thus involves the same region, Gap‐related domain, that had been shown to be associated with NFNS, her phenotype could have been misleadingly attributed to the NF1 mutation only. Contrarily, absence of both cutaneous neurofibromas and NS features in her relatives with the same NF1 mutation, suggests that the index patient's typical NFNS phenotype is caused by an additive effect of mutations in both NF1 and PTPN11. In contrast to previous findings, we speculate that absence of cutaneous neurofibromas is not solely associated with the recurrent 3‐bp in‐frame deletion in exon 17. © 2009 Wiley‐Liss, Inc.
Analysis of congenital heart defects in 87 consecutive patients with Brachmann‐de Lange syndrome
Authors: Selicorni Angelo , Colli Anna Maria , Passarini Alice , Milani Donatella , Cereda Anna , Cerutti Marta , Maitz Silvia , Alloni Viviana , Salvini Laura , Galli Maria Albina , Ghiglia Silvia , Salice Patrizia , Danzi Gian Battista
Published: May 2009

Congenital heart defects (CHDs) have been estimated to occur in ∼20% of patients with Brachmann‐de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow‐up from 5 to 12 years. A cardiac anomaly was identified in 29/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non‐obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11/28). Isolated late‐onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow‐up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow‐up. We believe that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow‐up. © 2009 Wiley‐Liss, Inc.
When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families
Authors: Wehbe Ramsey M. , Spiridigliozzi Gail A. , Heise Elizabeth M. , Dawson Deborah V. , McConkie‐Rosell Allyn
Published: May 2009

We report here on our findings from adolescent and young adult females (ages 14–25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for (1) learning fragile X is inherited, (2) learning one could be a carrier for fragile X, and (3) offering carrier testing for fragile X. Three groups were enrolled: those who knew they were carriers or noncarriers and those who knew only they were at‐risk to be a carrier. Only 2 of the 53 participants felt that offering carrier testing should be delayed until the age of 18 years. Participants who knew only that they were at‐risk to be a carrier provided older optimal ages for offering carrier testing than those who knew their actual carrier status. Participants did not express regret or negative emotions about the timing of the disclosure of genetic risk information regarding their own experiences. Participants' reasoning behind reported ages for informing about genetic risk and offering carrier testing varied depending on what type of information was being disclosed, which carrier status group the participant belonged to, and the preferred age for learning the information. Study findings suggest that decisions regarding the timing to inform about genetic risk and offer testing should be tailored to the individual needs of the child and his/her family. © 2009 Wiley‐Liss, Inc.
Significant phenotypic variability of Muenke syndrome in identical twins
Authors: Escobar Luis F. , Hiett Adam K. , Marnocha Anne
Published: May 2009

Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation. © 2009 Wiley‐Liss, Inc.
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
Authors: Zechi‐Ceide Roseli Maria , Ribeiro Lucilene Arilho , Raskin Salmo , Bertolacini Claudia Danielli Pereira , Guion‐Almeida Maria Leine , Richieri‐Costa Antonio
Published: May 2009

We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed. © 2009 Wiley‐Liss, Inc.
Further characterization of the new microdeletion syndrome of 16p11.2–p12.2
Authors: Battaglia Agatino , Novelli Antonio , Bernardini Laura , Igliozzi Roberta , Parrini Barbara
Published: May 2009

Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2–p12.2 in a patient with developmental delay (DD) and dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. The proposita was the only child of healthy nonconsanguineous parents, born after an uneventful pregnancy, at 40 weeks gestation, by normal delivery. She was referred to us at age ${\rm 3}{\raise0.5ex\hbox{$\scriptstyle {{\rm 10}}$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {{\rm 12}}$}}$ years for evaluation of DD and absent speech. On examination, there were a flat face; low‐set, posteriorly rotated ears; high‐arched palate; hypotonic face; right single palmar crease; long, thin fingers; and a sacral dimple. Her height was at the 50th centile, weight at the 25th, and OFC at the 30th. Results of DNA FraX, HRB chromosomes, metabolic work‐up, audiologic evaluation, brain MRI, electroencephalogram, and heart/abdomen ultrasonography were normal. When last seen, aged 8 years, she had a moderate intellectual disability (ID) and poor speech. She was hyperactive with short attention span and difficulty in concentration, but, based on formal testing, did not have autism. Our patient shows common clinical features to the four individuals described by Ballif et al. [Ballif et al. (2007); Nat Genet 39:1071–1073], and further characterizes the new microdeletion syndrome of 16p11.2–p12.2. aCGH suggests that the deletions of all cases share the same distal breakpoint. Of note, the proximal breakpoint of our proposita overlaps the distal breakpoint of the autistic patients studied by Kumar et al. [Kumar et al. (2008); Hum Mol Genet 17:628–638] and Weiss et al. [Weiss et al. (2008); N Eng J Med 358:667–675], confirming that the 16p region carrying susceptibility to autism is more centromeric. Our observation further defines two different, contiguous 16p genomic regions, responsible for a distinct MCA/ID syndrome, and for autism, respectively. © 2009 Wiley‐Liss, Inc.
Down syndrome and paternal age, a new analysis of case–control data collected in the 1960s
Authors: De Souza Elizabeth , Alberman Eva , Morris Joan K.
Published: May 2009

There has been a long‐running debate about the association between paternal age and Down syndrome. Some studies have failed to adequately control for maternal age, and have suffered from high levels of missing paternal age, raising concerns over selection bias. This paper analyzes an anonymously case‐controlled dataset with 98% complete parental age data, originally collected to investigate the association between parental exposure to radiation and Down syndrome. In our methods the cases and controls were matched on maternal age to within 6 months, and conditional logistic regression was used to estimate the odds ratio associated with a 10‐year increase in paternal age. Our results showed the estimated odds ratio for a Down syndrome pregnancy associated with a 10‐year increase in paternal age was 1.13, 95%CI (0.85, 1.52). There was no statistically significant evidence of an association between paternal age and Down syndrome, but the estimated association was positive. The size of the estimated effect is much smaller than the effect of maternal age. © 2009 Wiley‐Liss, Inc.