bluuebunny/crossref_metadata_2025_split huggingface dataset:
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.
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

AbstractA 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

AbstractA 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

AbstractWe 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

AbstractHearing 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

AbstractWe 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

AbstractWe 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

AbstractCampomelic 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

AbstractNeurofibromatosis‐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

AbstractCongenital 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

AbstractWe 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

AbstractMuenke 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

AbstractWe 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

AbstractUsing 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

AbstractThere 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.