bluuebunny/crossref_metadata_2025_split huggingface dataset:
Impact of social discrimination, job concerns, and social support on filipino immigrant worker mental health and substance use
Authors: Tsai Jenny Hsin‐Chun , Thompson Elaine Adams 
Published: June 2013

AbstractBackgroundThe personal and social impact of mental health problems and substance use on workforce participation is costly. Social determinants of health contribute significantly to health disparities beyond effects associated with work. Guided by a theory‐driven model, we identified pathways by which social determinants shape immigrant worker health.MethodAssociations between known social determinants of mental health problems and substance use (social discrimination, job and employment concerns, and social support) were examined using structural equation modeling in a sample of 1,397 immigrants from the Filipino American Community Epidemiological Study.ResultsSocial discrimination and low social support were associated with mental health problems and substance use (P < 0.05). Job and employment concerns were associated with mental health problems, but not substance use.ConclusionsThe integration of social factors into occupational health research is needed, along with prevention efforts designed for foreign‐born ethnic minority workers. Am. J. Ind. Med. 56:1082–1094, 2013. © 2013 Wiley Periodicals, Inc.
Hemifacial microsomia in cat‐eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry
Authors: Quintero‐Rivera Fabiola , Martinez‐Agosto Julian A. 
Published: June 2013

AbstractCat‐Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9‐month‐old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right‐sided muscular torticollis, esotropia, and an atretic right ear canal with low‐to‐moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1–q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. © 2013 Wiley Periodicals, Inc.
Richieri‐costa and Pereira syndrome: Severe phenotype
Authors: Raskin Salmo , Souza Marcela , Medeiros Mariana C. , Manfron Mayra , Chong e Silva Debora C. 
Published: June 2013

AbstractRichieri‐Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4‐month‐old boy with the most severe phenotype yet reported. © 2013 Wiley Periodicals, Inc.
Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature
Authors: Vignoli Aglaia , Scornavacca Giulia Federica , Peron Angela , La Briola Francesca , Canevini Maria Paola 
Published: June 2013

AbstractInterstitial deletions of the long arm of chromosome 6 represent a rare genomic disorder. Variable phenotypes has been reported in patients carrying this deletion, including facial dysmorphisms, intellectual disability/developmental delay, growth retardation and hypotonia, upper limb and cardiac malformations, and Prader–Willi (PWS)‐like features. We describe a new patient with an interstitial 6q deletion of 11.58 Mb detected by CGH‐Array, who showed facial dysmorphic features, small hands and feet, and severe dorsal scoliosis. Ataxic gait and frequent hand stereotypies were also noted. She started having seizures at 14 years, characterized by loss of consciousness, clonic jerks of the limbs, roaring breathing, fixed gaze, and generalized hypotonia. In the course of the disease she experienced cluster of seizures requiring intensive treatment. The electroencephalographic recording showed slowing of the background activity and bilateral paroxysmal activity over the posterior regions. Review of the literature done to pinpoint the epileptological features of the syndrome identified heterogeneous descriptions of the electro‐clinical picture in patients with interstitial 6q deletions. Genotype–phenotype correlations of this syndrome have been lacking until recently, when patients can be characterized with microarray‐based comparative genomic hybridization. Description of additional patients with interstitial 6q deletions will help to delineate candidate genes associated with particular phenotypes. © 2013 Wiley Periodicals, Inc.
Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria
Authors: Bartholdi Deborah , Asadollahi Reza , Oneda Beatrice , Schmitt‐Mechelke Thomas , Tonella Paolo , Baumer Alessandra , Rauch Anita 
Published: June 2013

ABSTRACTHomozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes have been described, all presenting with cystinuria but otherwise distinct phenotypes. Hypotonia‐cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the cystinuria gene SLC3A1 and the adjacent PREPL gene. Larger homozygous deletions in this region encompassing the PPM1B, SLC3A1, PREPL, and C2orf34 (CAMKMT) genes result in a more severe phenotype, the 2p21 deletion syndrome. A phenotype intermediate to HCS and the 2p21 deletion syndrome is termed atypical HCS and is caused by deletion of SLC3A1, PREPL, and C2orf34 (CAMKMT). Using high resolution SNP array molecular karyotyping we identified two siblings with a homozygous deletion of 83 kb partially encompassing the genes PREPL and C2orf34 (CAMKMT), but not the SLC3A1 gene. The affected siblings display a recognizable phenotype which is similar to atypical HCS with regard to growth failure and neuro‐muscular features, but is characterized by lack of cystinuria. The patients also exhibit features which have not been reported to date such as cleft palate and genital abnormalities. In conclusion, we report the first patients with a homozygous 2p21 deletion syndrome without cystinuria and further delineate the complex genotype–phenotype correlations of homozygous microdeletion syndromes of this region. © 2013 Wiley Periodicals, Inc.
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44
Authors: Wang David , Zeesman Susan , Tarnopolsky Mark A. , Nowaczyk Małgorzata J.M. 
Published: June 2013

AbstractSomatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3 Mb duplication on 1q43q44 that includes AKT3. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low‐set, protruding ears. The 3 Mb duplicated region contained 15 genes including AKT3. The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance. © 2013 Wiley Periodicals, Inc.
Altered lipid metabolism in gastroschisis: A novel hypothesis
Authors: Jones Kenneth Lyons , Weiss Lauren A. , Hagey Lee R. , Gonzalez Vanessa , Benirschke Kurt , Chambers Christina D. 
Published: June 2013

AbstractGastroschisis is a congenital abdominal wall defect where there is herniation of abdominal organs. Optimal maternal nutritional intake, in particular, fatty acids, are vital for proper growth and development of the fetus. This pilot case–control study explored the association of several biomarkers of fatty acids and gastroschisis. Between 2008 and 2011, we recruited 13 pregnant women in mid‐gestation who were referred to the UCSD Prenatal Center for evaluation of an abnormal maternal serum alpha‐fetoprotein (MSAFP) test and subsequently identified as carrying a baby with gastroschisis. Nine controls were selected from a false positive MSAFP or from the UCSD prenatal clinic. At enrollment, maternal blood was drawn for analysis of fatty acids. Mann–Whitney–Wilcoxon tests were used to test for mean differences between erythrocyte fatty acid biomarkers and the fatty acid lipogenic (palmitic acid: linoleic acid) and desaturation (palmitoleic acid: palmitic acid) indices and gastroschisis. Mothers carrying a baby with gastroschisis and gastroschisis babies had consistently higher levels of palmitoleic acid (all P's < 0.05), gastroschisis mothers had lower levels of oleic acid during pregnancy and at delivery, and higher levels of DHA at delivery (all P's < 0.05). The lipogenic index was significantly lower at delivery for gastroschisis mothers (P < 0.05) and the desaturation index was consistently higher in gastroschisis mothers and babies (all P's < 0.01). These findings suggest that early maternal inflammation possibly resulting from an imbalance of fatty acids, leading to a vascular disruption, may be the underlying mechanism responsible for at least some cases of gastroschisis. © 2013 Wiley Periodicals, Inc.
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication
Authors: Ballesta‐Martínez Maria Juliana , López‐González Vanesa , Dulcet Lluis Armengol , Rodríguez‐Santiago Benjamín , Garcia‐Miñaúr Sixto , Guillen‐Navarro Encarna 
Published: June 2013

AbstractOculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra‐familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also been described. Most affected individuals are isolated cases in otherwise normal families. Autosomal dominant inheritance has been observed in about 2–10% of cases and linkage analysis as well as array‐CGH analysis have detected candidate loci for OAVS offering new insights into the understanding of pathogenesis of this entity. We describe a family with clinical diagnosis of OAVS, autosomal dominant inheritance pattern, and detection of a 14q23.1 duplication of 1.34 Mb in size which segregates with the phenotype. This region contains OTX2, which is involved in the development of the forebrain, eyes, and ears, and appears to be a good candidate gene for OAVS. © 2013 Wiley Periodicals, Inc.
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
Authors: Abdel‐Salam Ghada M.H. , Abdel‐Hamid Mohamed S. , Hassan Nihal A. , Issa Mahmoud Y. , Effat Laila , Ismail Samira , Aglan Mona S. , Zaki Maha S. 
Published: June 2013

AbstractWe describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. © 2013 Wiley Periodicals, Inc.
Myoclonic epilepsy in a child with 17q22–q23.1 deletion
Authors: Coppola Antonietta , Tostevin Anna , McTague Amy , Pressler Ronit M. , Cross J. Helen , Sisodiya Sanjay M. 
Published: June 2013

AbstractInterstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22–q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6‐year‐old boy carrying a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization (aCGH). © 2013 Wiley Periodicals, Inc.
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin‐binding fragment of FBN1
Authors: Wilson Brian T. , Jensen Sacha A. , McAnulty Ciaron P. , Brennan Paul , Handford Penny A. 
Published: June 2013

AbstractMutations in Fibrillin 1 (FBN1) are associated with Marfan syndrome and in some instances with the MASS phenotype (myopia, mitral valve prolapse, borderline non‐progressive aortic root dilatation, skeletal features, and striae). Potential confusion over diagnosis and management in patients with borderline features has been addressed through the revised Ghent nosology, which emphasizes the importance of aortic root dilatation and ectopia lentis as features of Marfan syndrome. The overlapping and more common mitral valve prolapse syndrome is precluded by ectopia lentis or aortic dilatation. Among these clinically related conditions, there is no compelling evidence that genotype predicts phenotype, with the exception of neonatal Marfan syndrome, mutations in which cluster within FBN1 exons 24−32. Recent reports also link two very different phenotypes to changes in FBN1. Heterozygous mutations in transforming growth factor β‐binding protein‐like domain 5 (TB5) can cause acromicric or geleophysic dysplasias—and mutations in the TB4 domain, which contains an integrin binding RGD loop, have been found in congenital scleroderma/stiff skin syndrome. We report on a variant in an evolutionarily conserved residue that stabilizes the integrin binding fragment of FBN1, associated with juvenile idiopathic arthritis, mitral valve prolapse or apparently normal phenotype in different family members. © 2013 Wiley Periodicals, Inc.
Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
Authors: Vermeer Alexa M.C. , van Engelen Klaartje , Postma Alex V. , Baars Marieke J.H. , Christiaans Imke , De Haij Simone , Klaassen Sabine , Mulder Barbara J.M. , Keavney Bernard 
Published: June 2013

AbstractLeft ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β‐myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance. © 2013 Wiley Periodicals, Inc.
A calcaneus attributable to the primitive late eocene anthropoid Proteopithecus sylviae: Phenetic affinities and phylogenetic implications
Authors: Gladman Justin T. , Boyer Doug M. , Simons Elwyn L. , Seiffert Erik R. 
Published: June 2013

ABSTRACTA well‐preserved calcaneus referrable to Proteopithecus sylviae from the late Eocene Quarry L‐41 in the Fayum Depression, Egypt, provides new evidence relevant to this taxon's uncertain phylogenetic position. We assess morphological affinities of the new specimen using three‐dimensional geometric morphometric analyses with a comparative sample of primate calcanei representing major extinct and extant radiations (n = 58 genera, 106 specimens). Our analyses reveal that the calcaneal morphology of Proteopithecus is most similar to that of the younger Fayum parapithecid Apidium. Principal components analysis places Apidium and Proteopithecus in an intermediate position between primitive euprimates and crown anthropoids, based primarily on landmark configurations corresponding to moderate distal elongation, a more distal position of the peroneal tubercle, and a relatively “unflexed” calcaneal body. Proteopithecus and Apidium are similar to cercopithecoids and some omomyiforms in having an ectal facet that is more tightly curved, along with a larger degree of proximal calcaneal elongation, whereas other Fayum anthropoids, platyrrhines and adapiforms have a more open facet with less proximal elongation. The similarity to cercopithecoids is most plausibly interpreted as convergence given the less tightly curved ectal facets of stem catarrhines. The primary similarities between Proteopithecus and platyrrhines are mainly in the moderate distal elongation and the more distal position of the peroneal tubercle, both of which are not unique to these groups. Proteopithecus and Apidium exhibit derived anthropoid features, but also a suite of primitive retentions. The calcaneal morphology of Proteopithecus is consistent with our cladistic analysis, which places proteopithecids as a sister group of Parapithecoidea. Am J Phys Anthropol 151:372–397, 2013.© 2013 Wiley Periodicals, Inc.
Viewpoints: Feeding mechanics, diet, and dietary adaptations in early hominins
Authors: Daegling David J. , Judex Stefan , Ozcivici Engin , Ravosa Matthew J. , Taylor Andrea B. , Grine Frederick E. , Teaford Mark F. , Ungar Peter S. 
Published: June 2013

ABSTRACTInference of feeding adaptation in extinct species is challenging, and reconstructions of the paleobiology of our ancestors have utilized an array of analytical approaches. Comparative anatomy and finite element analysis assist in bracketing the range of capabilities in taxa, while microwear and isotopic analyses give glimpses of individual behavior in the past. These myriad approaches have limitations, but each contributes incrementally toward the recognition of adaptation in the hominin fossil record. Microwear and stable isotope analysis together suggest that australopiths are not united by a single, increasingly specialized dietary adaptation. Their traditional (i.e., morphological) characterization as “nutcrackers” may only apply to a single taxon,Paranthropus robustus. These inferences can be rejected if interpretation of microwear and isotopic data can be shown to be misguided or altogether erroneous. Alternatively, if these sources of inference are valid, it merely indicates that there are phylogenetic and developmental constraints on morphology. Inherently, finite element analysis is limited in its ability to identify adaptation in paleobiological contexts. Its application to the hominin fossil record to date demonstrates only that under similar loading conditions, the form of the stress field in the australopith facial skeleton differs from that in living primates. This observation, by itself, does not reveal feeding adaptation. Ontogenetic studies indicate that functional and evolutionary adaptation need not be conceptually isolated phenomena. Such a perspective helps to inject consideration of mechanobiological principles of bone formation into paleontological inferences. Finite element analysis must employ such principles to become an effective research tool in this context. Am J Phys Anthropol 151:356–371, 2013.© 2013 Wiley Periodicals, Inc.
Patterns of astragalar fibular facet orientation in extant and fossil primates and their evolutionary implications
Authors: Boyer Doug M. , Seiffert Erik R. 
Published: June 2013

ABSTRACTA laterally sloping fibular facet of the astragalus (=talus) has been proposed as one of few osteological synapomorphies of strepsirrhine primates, but the feature has never been comprehensively quantified. We describe a method for calculating fibular facet orientation on digital models of astragali as the angle between the planes of the fibular facet and the lateral tibial facet. We calculated this value in a sample that includes all major extant primate clades, a diversity of Paleogene primates, and nonprimate euarchontans (n = 304). Results show that previous characterization of a divide between extant haplorhines and strepsirrhines is accurate, with little overlap even when individual data points are considered. Fibular facet orientation is conserved in extant strepsirrhines despite major differences in locomotion and body size, while extant anthropoids are more variable (e.g., low values for catarrhines relative to non‐callitrichine platyrrhines). Euprimate outgroups exhibit a mosaic of character states with Cynocephalus having a more obtuse strepsirrhine‐like facet and sampled treeshrews and plesiadapiforms having more acute haplorhine‐like facets. Surprisingly, the earliest species of the adapiform Cantius have steep haplorhine‐like facets as well. We used a Bayesian approach to reconstruct the evolution of fibular facet orientation as a continuous character across a supertree of living and extinct primates. Mean estimates for crown Primatomorpha (97.9°), Primates (99.5°), Haplorhini (98.7°), and Strepsirrhini (108.2°) support the hypothesis that the strepsirrhine condition is derived, while lower values for crown Anthropoidea (92.8°) and Catarrhini (88.9°) are derived in the opposite direction. Am J Phys Anthropol 151:420–447, 2013.© 2013 Wiley Periodicals, Inc.