bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects
Authors: Nishimura Gen , Kizu Rika , Kijima Yoshimaro , Sakai Kiyoshi , Kawaguchi Yoshiharu , Kimura Tomoatsu , Matsushita Isao , Shirahama Shuya , Ikeda Toshiyuki , Ikegawa Shiro , Hasegawa Tomonobu 
Published: July 2003

AbstractSpondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E‐like brachydactyly. These manifestations overlap with those of spondyloperipheral dysplasia (SPD), in which a sporadic case with a mutation of COL2A1 has been reported. We report on three patients (an affected woman and her son and a sporadic case of an affected man) with SED Maroteaux type. The affected adults were severely short along with stubby hands and feet, and one developed myelopathy as a result of thoracolumbar gibbus. The affected child was mildly short at birth, and developed brachydactyly in early childhood. The radiological hallmarks of these patients included severe platyspondyly with square‐shaped vertebral bodies, iliac hypoplasia, epiphyseal hypoplasia of the large joints, and strikingly short metacarpals and phalanges. These radiological findings appeared already apparent in early childhood. SED Maroteaux type was radiologically discriminative from SPD. Brachydactyly was much severe in the former than in the latter, and spondylar dysplasia manifestation was different between both disorders. Mutation screen by polymerase chain reaction‐direct sequencing for all exons and their flanking regions of COL2A1 did not reveal any mutations in the three patients. © 2003 Wiley‐Liss, Inc.
Functional disomy for Xq22‐q23 in a girl with complex rearrangements of chromosomes 3 and X
Authors: Ida Tomoko , Miharu Norio , Hayashitani Michiko , Shimokawa Osamu , Harada Naoki , Samura Osamu , Kubota Takeo , Niikawa Norio , Matsumoto Naomichi 
Published: July 2003

AbstractA 5‐year‐old girl with developmental and growth retardation is reported with complex chromosome rearrangements consisting of a partial Xq deletion and an abnormal chromosome 3 with multiple breakpoints. GTG‐banding, and multiplex and conventional FISH studies showed that a 6.6‐Mb Xq22‐q23 segment was inserted into 3q, in addition to three intrachromosomal insertions in chromosome 3. Her karyotype was thus interpreted as 46,X,der(X)(Xpter→Xq22::Xq23→Xqter),der(3)(3pter→3p26::3p12→3q25.3::3p12→3p26::Xq22→Xq23::3q25.3→3qter). Replication R‐banding study showed that the der(X) was inactivated in all blood lymphocytes analyzed. Methylation‐specific PCR at the androgen receptor gene (HUMARA) locus at Xq11‐q12 showed a skewed inactivation pattern with the active/inactive X chromosome ratio of 92/8. These data indicated the presence, in the majority of cells, of a functioning Xq22‐q23 segment in both the normal X and the der(3) chromosomes. Her growth retardation, developmental delay, and other minor anomalies were most likely caused by dosage effects of the genes in the functionally disomic Xq22‐q23 region. Despite the presence of two active copies of the proteolipid protein 1 gene (PLP1), she did not show the symptoms of Pelizaeus‐Merzbacher disease, a subset of which has been known to be caused by the duplication of PLP1. © 2003 Wiley‐Liss, Inc.
D‐2‐hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses
Authors: Clarke Nigel F. , Andrews Ian , Carpenter Kevin , Jakobs Cornelis , van der Knaap Marjo S. , Kirk Edwin P. 
Published: July 2003

AbstractD‐2‐hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness, and profound developmental delay, or a mild course characterized by mild developmental delay, manageable epilepsy, and mild hypotonia. To date there has been a clear distinction between these two groups. We report the second case of a child with D2HGA who has followed an intermediate course. She presented in infancy with hypotonia, manageable epilepsy and developed moderate to severe developmental delay, and cortical visual impairment. The proposita had a coarse facial appearance, flat face, broad nasal bridge, up‐turned nose, and simple, anteverted ears. These facial anomalies have been noted in other children with D2HGA and this case strengthens the proposed association between this facial phenotype and D2HGA. We also report the third and fourth instances of prenatal diagnosis for D2HGA. At each prenatal diagnosis, an affected fetus was diagnosed on the basis of markedly increased levels of D‐2‐hydroxyglutaric acid in amniotic fluid. © 2003 Wiley‐Liss, Inc.
Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease
Authors: Boles Richard G. , Adams Kathleen , Ito Masamichi , Li B.U.K. 
Published: July 2003

AbstractCyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features. Disease‐associated mitochondrial DNA (mtDNA) sequence variants are suggested by a strong maternal bias in the inheritance of migraine, and the recent findings of mtDNA variants in a few children with CVS and additional neuromuscular disease manifestations (“CVS+”). A clinical interview using a questionnaire was administered (generally) to one parent of 62 children with CVS+. Non‐senile disease manifestations, including migraine, myopathy, seizures, and dysautonomia‐like symptoms, were far more common in matrilineal versus non‐matrilineal relatives, including being present in 75% of the mothers versus in only 11% of the fathers (P < 0.001). Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this “severe” end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia. © 2003 Wiley‐Liss, Inc.
Living with achondroplasia in an average‐sized world: An assessment of quality of life
Authors: Gollust Sarah E. , Thompson Richard E. , Gooding Holly C. , Biesecker Barbara B. 
Published: July 2003

AbstractMutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most common form of inherited skeletal dysplasia. Although there are more than 10,000 individuals with achondroplasia living in the United States, there has been little study of their quality of life (QOL). For this study, surveys were collected from 189 individuals affected with achondroplasia (ACH) and 136 unaffected first‐degree relatives (FDRs) of affected individuals. Individuals affected with achondroplasia had lower annual income, less education, and were less likely to be married than FDRs. They also differed significantly in their perceptions of achondroplasia, with FDRs believing that achondroplasia is a more serious condition. Total QOL indices and indices in each of four QOL subdomains were significantly lower in affected individuals than in relatives. When controlling for demographic characteristics and affected status, having lower self‐esteem scores and perceiving achondroplasia as more serious were the independent factors most highly associated with lower QOL. A qualitative analysis of open responses to questions about the advantages and disadvantages of achondroplasia revealed that individuals were as likely to cite disadvantages relating to social barriers as they were to cite those relating to health and functioning. We interpret the low QOL scores to reflect the social challenges that individuals with achondroplasia regularly experience in the average‐sized world. Genetics professionals should consider sources of lower QOL for affected individuals in their counseling sessions to acknowledge the relative importance of non‐medical contributions. Published 2003 Wiley‐Liss, Inc.
Case‐control study of cleft lip or palate after maternal use of topical corticosteroids during pregnancy
Authors: Edwards Matthew J. , Agho Kingsley , Attia John , Diaz Pedro , Hayes Teresa , Illingworth Alice , Roddick Laurence G. 
Published: July 2003

AbstractA case‐control survey of 48 children with nonsyndromic cleft lip or palate showed a significant increase in prevalence of maternal use of topical corticosteroid preparations in the first trimester of pregnancy, compared to 58 controls born in the same hospital; the odds ratio was 13.154, 95% confidence interval 1.67–586, P = 0.0049 on Fisher's exact two‐tail test. The results were statistically significant although the wide confidence interval reflected the small sample size. Although older epidemiological studies have not detected any association between systemic corticosteroid treatment and the combined incidence of all congenital malformations, experimental studies over several decades have shown that maternal corticosteroid exposure in several species of animals is specifically associated with oral clefts. This association has been confirmed by more specific case‐control surveys where the cases were children with cleft lip or palate and the exposure was maternal systemic corticosteroid treatment in the first trimester. Only one previous survey also analyzed topical corticosteroids, and it demonstrated an increased odds ratio for cleft lip or palate. A national survey of children with cleft palate will be necessary to evaluate the results of this pilot study. © 2003 Wiley‐Liss, Inc.
X‐linked mild non‐syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
Authors: Gedeon Agi K. , Nelson John , Gécz Jozef , Mulley John C. 
Published: July 2003

AbstractWe describe a family of 19 males in five generations with mild to borderline non‐syndromic X‐linked mental retardation (MRX). There were no clinical manifestations in the affected males other than mental impairment and relatively long ears, with neuropsychiatric problems in some cases. Linkage analysis carried out on part of the pedigree using 34 markers spanning the X chromosome localized the gene between DXS454 and DXS1001 in Xq23. The maximum two‐point lod score was 3.21 at DXS1059. PAK3 is a known MRX gene mapping to the same region. The affected males and obligate carrier females were found to have a missense mutation c.1094C > A in exon 10 causing an A365E substitution in a highly conserved region of the protein. The C to A base change abolishes a PvuII restriction enzyme site providing the basis for a simple test, if required, for carrier detection and prenatal diagnosis in the extended family. © 2003 Wiley‐Liss, Inc.
Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error
Authors: Zeng Shemin , Patil Shivanand R. , Yankowitz Jerome 
Published: July 2003

AbstractComplete or mosaic trisomy for all of chromosome 1q has been seen rarely in a recognized pregnancy. A patient presented with twins following in vitro fertilization (IVF). Ultrasound showed twin A to have a diaphragmatic hernia, thick nuchal fold, and subtle intracranial abnormalities. Twin B appeared normal and a thick dividing membrane was seen. Amniocentesis of twin A showed a male karyotype with mosaic trisomy 1q in 57% of cells resulting from a translocation between chromosomes Yq12 and 1q12. Parental karyotypes were normal. The twins were delivered at 33 weeks. Twin A died at 1 hr of life. Autopsy confirmed the left diaphragmatic hernia and hypoplastic lungs. Autopsy also revealed a partial cleft palate, syndactyly of the second and third toes bilaterally, external deviation of the left 5th toe, and contractures of the index fingers bilaterally. A recent report documented formation of a chimera resulting from embryo amalgamation after IVF. Given the rarity of the cytogenetic findings in our case, we sought to determine if the mosaicism was a result of chimera formation related to the IVF. Thirteen polymorphic loci throughout the genome, in addition to four on 1q and four on 1p, were amplified by PCR. Only two alleles were observed at each of these loci in twin A, one paternal and the other maternal. We present further clinical findings of this case with a rare cytogenetic abnormality that appears to have originated from a postzygotic mitotic error and not embryo amalgamation. © 2003 Wiley‐Liss, Inc.
Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia
Authors: Kjaer Klaus W. , Keeling Jean W. , Opitz John M. , Gilbert‐Barness Enid , Hartling Ulla , Hansen Birgit Fischer , Kjær Inger 
Published: July 2003

AbstractThe development of the iliac bones and lower limbs are parallel processes depending on the normal ontogeny of the caudal blastema [O'Rahilly and Müller, 1989; Opitz, 1993; Opitz et al., 2000]. We hypothesized that the pathogenetic mechanisms leading to fused lower limbs would in parallel displace the ilia caudally and medially and that the degree of this displacement might correlate with the severity of the iliac and lower limb defects. Thus the purpose of the study was to test this hypothesis in a sample of 12 sirenomelic fetuses. The fetuses GA 16–39 weeks, spontaneously or therapeutically aborted, were radiographed in the frontal projection as part of a requested autopsy. From each radiograph, a line was drawn connecting the most cranial part or the two ilia. After that the distance was measured vertically between this line and the most cranial part of the first sacral vertebral body (iliac‐sacral distance (ISD)). A second distance was measured horizontally between the most lateral part of the two iliae (bi‐iliac distance (BD)). As a result, ISD correlates with the iliac/femur phenotype. Separate ilia and femora occur only in cases with normal ISD. Fused ilia or femora or both are seen only in fetuses with mildly increased ISD, whereas a single iliac bone and femur occur only in cases with greatly increased ISD. The increase of the ISD does not correlate with the severity of more distal limb involvement. There was a correlation between the ISD and the BD values; the higher the ISD, the shorter the BD. Based on these findings, we propose an extended classification of Sirenomelia to be tested by other researchers. © 2003 Wiley‐Liss, Inc.
Screening of patients with craniosynostosis: Molecular strategy
Authors: Chun Kathy , Teebi Ahmad S. , Azimi Cyrus , Steele Leslie , Ray Peter N. 
Published: July 2003

AbstractCraniosynostosis is the premature fusion of calvarial bones leading to an abnormal head shape. The craniosynostosis syndromes are clinically heterogeneous with overlapping features, which make an accurate diagnosis difficult at times. Although the clarification of a genetic lesion does not have a direct impact on patient management in many cases, there is a significant benefit in providing accurate prenatal diagnosis. Genetic counsellors are also able to offer better risk estimates of recurrences to non‐manifesting carriers and their extended family members and for affected patients of reproductive age. Advances in gene discovery have shown that craniosynostosis syndromes delineated on clinical bases, with the possible exception of Apert syndrome, are genetically heterogeneous, and mutations have been found in fibroblast growth factor receptors (FGFR) 1, 2, 3 and TWIST. We surveyed 99 craniosynostosis patients at the molecular level and found mutations in 50 of them. Six novel point mutations were identified: three in FGFR2 and three in TWIST. Two Saethre–Chotzen patients with TWIST microdeletions at 7p21 were also found. The other mutations identified have been previously reported. In studying these 99 patients, we developed a diagnostic strategy for craniosynostosis testing, where sequential analysis of recurrent mutations was followed by selective sequencing. This algorithm makes testing of craniosynostosis disorders more efficient and cost‐effective. © 2003 Wiley‐Liss, Inc.
Brief communication: Multiplex X/Y‐PCR improves sex identification in aDNA analysis
Authors: Schmidt Diane , Hummel Susanne , Herrmann Bernd 
Published: July 2003

AbstractThis study introduces a polymerase chain reaction (PCR)‐based multiplex approach to improve the certainty of molecular sex identification on archaeological skeletal material. We coamplified amelogenin, two X‐chromosomal short tandem repeats (STRs) (DXS6789 and DXS9898), and two Y‐specific STRs (DYS391 and DYS392). The amplification results of this multiplex approach back each other up, and enable a reliable sex identification. This coamplification of X‐ and Y‐specific markers in a multiplex assay combines the added advantage of positive identification of both female and male individuals with raising the validity of the diagnosis by obtaining multiple data simultaneously. This multiplex system was successfully applied to 3,000‐year‐old bone material. Am J Phys Anthropol 121:000–000, 2003. © 2003 Wiley‐Liss, Inc.
Asymmetric regional cerebral blood flow in sedated baboons measured by positron emission tomography (PET)
Authors: Kaufman Jason A. , Phillips‐Conroy Jane E. , Black Kevin J. , Perlmutter Joel S. 
Published: July 2003

AbstractThe analysis of structural brain asymmetry has been a focal point in anthropological theories of human brain evolution and the development of lateralized behaviors. While physiological brain asymmetries have been documented for humans and animals presenting with pathological conditions or under certain activation tasks, published studies on baseline asymmetries in healthy individuals have produced conflicting results. We tested for the presence of cerebral blood flow asymmetries in 7 healthy, sedated baboons using positron emission tomography, a method of in vivo autoradiography. Five of the 7 baboons exhibited hemispheric asymmetries in which left‐sided flow was significantly greater than right‐sided flow. Furthermore, the degree of asymmetry in 8 of 24 brain regions was found to be significantly correlated with age; older individuals exhibited a higher degree of asymmetry than younger individuals. Cerebral blood flow itself was uncorrelated with age, and differences between males and females were not significant. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Mitochondrial DNA sequence from an enigmatic gorilla population (Gorilla gorilla uellensis)
Authors: Hofreiter Michael , Siedel Heike , Van Neer Wim , Vigilant Linda 
Published: July 2003

AbstractAlthough today gorillas are found in only two widely separate, discontinuous western and eastern African populations, rumors of the existence of an additional gorilla population in central Africa have inspired recent unsuccessful field expeditions in search of the “mystery ape” termed Gorilla gorilla uellensis. Such a gorilla population would have considerable conservation and scientific interest, and would presumably have descended from a population of gorillas that was thought to exist until the end of the 19th century on the Uele River in the current‐day Democratic Republic of Congo. However, the sole evidence for the existence of these gorillas is three skulls and one mandible brought to the Royal Museum for Central Africa (Tervuren, Belgium) in 1898. We determined a mitochondrial DNA sequence from one of these specimens and compared it to sequences from other gorillas. Contrary to expectations, the sequence obtained did not exhibit the phylogenetic distinctiveness typical of a representative of a peripheral isolated population. Rather, the results suggest a scenario in which the museum specimens did not originally derive from the northern Congo, but were brought from the area of current distribution of western gorillas to that location; the subsequent discovery and collection of the specimens there gave rise to the false inference of a local gorilla population. Am J Phys Anthropol 121:000–000, 2003. © 2003 Wiley‐Liss, Inc.
Osteon remodeling dynamics in the Cayo Santiago Macaca mulatta: The effect of matriline
Authors: Havill Lorena M. 
Published: July 2003

AbstractAt the microstructural level, bones remodel throughout life. This process is recorded in bone cortex as osteons. A more comprehensive understanding of the interaction between genetic regulation and environmental factors in osteon remodeling will increase the value of this skeletal record and enable more accurate reconstruction of individual life histories. The purpose of this study was to examine the contribution of maternal lineage to normal age and sex variation in osteon remodeling dynamics in Macaca mulatta. Femoral cross sections from 57 Cayo Santiago‐derived rhesus macaques representing five matrilines were examined to evaluate the effect of genetic relatedness on osteon remodeling dynamics. Analysis of variance revealed an effect of maternal lineage on osteon area and Haversian canal area. The other variables did not differ significantly among matrilines. Analysis of covariance revealed no significant interactions among age, sex, and matriline for any of the microstructural variables. Am J Phys Anthropol 121:000–000, 2003. © 2003 Wiley‐Liss, Inc.
Beyond palisades: The nature and frequency of late prehistoric deliberate violent trauma in the Chickamauga Reservoir of East Tennessee
Authors: Smith Maria Ostendorf 
Published: July 2003

AbstractBased on the presence of palisades and an iconography suggesting a warrior elite, warfare is presumed to be endemic in the Late Mississippian period (AD 1200–1600) of the southeastern United States. Warfare is theorized to play a vital role in the cycling of chiefdoms. However, apart from a few exemplary cases that display double‐digit frequencies, very little direct (i.e., skeletal) evidence of violent trauma has dovetailed with the archaeological presumptions of warfare. Eight sites from the Chickamauga Reservoir of east Tennessee were examined for skeletal evidence of deliberate violent trauma. Violent trauma was anticipated because these sites are in close proximity and consist of two adjacent, sociopolitically distinct, and temporally overlapping phases: Dallas (AD 1300–1600) and Mouse Creek (AD 1400–1600). In addition to small, round, nonlethal ectocranial blunt‐force trauma (BFT) on the frontal and upper parietal bones, inflicted projectile points and scalping were identified. The low total trauma frequency in the Dallas sample (3.86%, n = 259) is consistent with emerging evidence from east and west Tennessee Late Mississippian data, but significantly different from Mouse Creek (8.06%, n = 273). The proportion of nonlethal cranial BFT in the collective Chickamauga sample is large and at odds with the Tennessee River Valley comparative literature. Based on other bioarchaeological literature, this pattern suggests intragroup violence, but not face‐to‐face ritual contests. It is better explained as interpersonal conflict resolution along codified lines. This is consistent with southeastern ethnohistoric data and may explain the more frequent cranial BFT in the less stratified Mouse Creek phase, which likely would not have had an overarching civil authority. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.