bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex
Authors: Finley Wayne H. , Callahan Alston , Thompson Jerry N. 
Published: September 2005

AbstractMaternal and paternal age and birth order of 14 sporadic cases of the autosomal dominant blepharophimosis‐ptosis–epicanthus inversus–telecanthus (BPEI) phenotype were compared to similar statistics from control individuals. Correlation coefficients were determined for paternal age and incidence, maternal age and incidence, and birth order and incidence. The partial correlation coefficient of the father's age and incidence with maternal age and birth order held constant was −0.02 and that for the mother's age and incidence with paternal age and birth order held constant was 0.57. Maternal age seems to have a stronger influence than the paternal age in this group of BPEI patients.
Blood serotonin and tryptophan in Tourette syndrome
Authors: Comings David E. 
Published: September 2005

AbstractBlood serotonin and tryptophan levels were studied in 1,440 individuals. These included patients with Tourette syndrome (TS), attention deficit hyperactivity disorder (ADHA), or ADHD with a family history of TS (ADHD 2° TS); relatives (parents, sibs) of these patients; other patients with TS‐like disorders; and controls.There were significant decreases in the serotonin/platelet ratio (P = 0.0001) and in tryptophan (P < 0.0001) in unmedicated patients with TS. Parents of TS patients showed a comparable, significant decrease in serotonin/platelet ratio (P<0.0001) and in tryptophan (P<0.0001), and there was no difference between parents with and without symptoms. This suggested that these were trait markers for the Gts gene and agrees with the proposal that TS patients are homozygous for Gts gene and that both parents are Gts gene carriers.Although there was no decrease in the serotonin/platelet ratio in ADHD patients, tryptophan levels were significantly decreased and there was a significant decrease in both the serotonin/platelet ratio and in tryptophan in the parents of patients with ADHD including those without a family history of TS. This is consistent with a close link between TS and ADHD. The basic defect may be a dysregulation of serotonin metabolism.The low blood serotonin and tryptophan levels in TS are consistent with the wide range of behavioral disorders seen in TS and suggest tryptophan oxygenase as a possible candidate gene.
Enamel defects: A developmental marker for hemifacial microsomia
Authors: Johnsen David C. , Weissman Barbara M. , Murray Gail S. , Zinn Arthur B. 
Published: September 2005

AbstractWe have observed primary tooth enamel defects in 4 children with hemifacial microsomia. The distribution of enamel defects was concordant with the laterality of craniofacial anomalies in these patients and was most pronounced on the maxillary incisors. Since the location of enamel defects serves as a chronicle for the events of tooth formation, we propose that enamel defects may serve as a developmental marker for the events leading to hemifacial microsomia.
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: A case report
Authors: Pijpers Leen , Kleijer Wim J. , Reuss Annette , Jahoda Milena G. J. , Los Frans J. , Sachs Eva S. , Wladimiroff Juriy W. 
Published: September 2005

AbstractWe report on a 32‐year‐old G3P2 woman at increased risk of argininosuccinic aciduria in her offspring. In her first infant, the disease was diagnosed at age 3 months. In the second pregnancy, the disorder was excluded following incorporation of radio‐labeled 14C‐citrul‐line in intact chorionic villi obtained through transcervical chorionic villus sampling at 10 weeks gestation. Twins were diagnosed in the third pregnancy. Separate transabdominal chorionic villus sampling of both fetuses was carried out at 10 weeks gestation. Chromosome analysis demonstrated a normal male and female karyotype. Incorporation of radio‐labeled 14C‐citrulline in intact villi was deficient in both villus samples, establishing the diagnosis of argininosuccinic aciduria in both fetuses. The present results confirm the reliability of direct analysis of villi for the diagnosis of argininosuccinic aciduria.
Multiple gastrointestinal atresias with imperforate anus: Pathology and pathogenesis
Authors: Shen‐Schwarz Susan , Fitko Rosanne 
Published: September 2005

AbstractThe syndrome of hereditary multiple gastrointestinal atresias is characterized by multiple and widespread atresias from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal course with an autosomal recessive mode of inheritance. We review 18 cases reported in the literature and one additional case in an infant with imperforate anus. The anatomical and histological characteristics of the atresias suggest a failure ofrecanalization of the embryonic intestinal lumen. The association between multiple atresias and imperforate anus supports the hypothesis that this disorder is a malformation syndrome caused by a defect in the development of the gastrointestinal tract.
Rapp‐Hodgkin syndrome: Report of a Brazilian family
Authors: Rodini E. O. S. , Freitas J. A. S. , Richieri‐Costa A. 
Published: September 2005

AbstractWe report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp‐Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1‐2‐3‐4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.
Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations
Authors: Kolodny Edwin H. , Firon Nurit , Eyal Nurit , Horowitz Mia 
Published: September 2005

AbstractSeven members of an Ashkenazi Jewish family with Gaucher disease in 3 successive generations were tested for the presence of the 2 common mutations known to occur in the glucocerebrosidase gene. Genomic DNA from blood or skin fibroblasts of relatives was amplified by using the PCR technique and individual mutations identified by oligonucleotides specific to the mutated sequences. Four individuals were homozygous for a mutation at amino acid 370 (370 mutation) known to occur only in type 1 disease. The other 3 affected relatives were compound heterozygotes for this mutation and for a mutation at amino acid 444 (Ncil mutation) which, in the homozygous state, is associated with neurological disease. Clinical severity was more marked in the compound heterozygotes than in the homozygotes. Since the mutation is present in Ashkenazim, molecular diagnosis in families which carry the Ncil mutation should prove useful in assessing their risk of the neurologic forms of Gaucher disease.
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: The Zlotogora‐Ogur syndrome
Authors: Rodini Elaine S. O. , Richieri‐Costa A. 
Published: September 2005

AbstractWe report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2–3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheri‐tance are discussed.
Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18
Authors: Ozturk Mehmet , Milunsky Aubrey , Brambati Bruno , Sachs E. S. , Miller Susan L. , Wands Jack R. 
Published: September 2005

AbstractWe have measured maternal serum levels of free α and β subunits of human chorionic gonadotropin between 8 and 12 weeks of gestation in 704 women at increased risk for trisomy. This group was studied because of advanced maternal age or a previous birth with chromosomal abnormality. All sera had been collected prior to chorion villus biopsy for prenatal diagnosis. Serum levels of free α and βhCG were determined by specific mono‐clonal antibody‐based immunoradiometric assays. Analysis of chorionic tissue showed that in 38 of 704 (5.4%) pregnancies the fetus had a chromosome abnormality. There were 8 fetuses with trisomy 18 (1.1%) and 9 (1.3%) with trisomy 21. In all pregnancies carrying a trisomy 18 fetus, we observed either high levels of free αhCG or low levels of free βhCG or both. More importantly, the calculated ratio of free βhCG/αhCG was less than 0.25 multiples of the median (MoM) in 6 of 8 (75%) trisomy 18 cases. Only 21 of 666 mothers (3.2%) carrying a normal fetus had a ratio less than 0.25 MoM (P<0.0001). There was no difference between this ratio in trisomy 21 and normal pregnancy. Thus, when adjusted for gestational age, a low free βhCG/αhCG ratio in maternal serum indicates a pregnancy at high risk [RR = 72 (95% CI32, 162)] for trisomy 18.
Cephalometric analysis of the Prader‐Willi syndrome
Authors: Schaedel Robert , Poole Andrew E. , Cassidy Suzanne B. 
Published: September 2005

AbstractThe Prader‐Willi syndrome (PWS) is characterized by short stature, mild mental retardation, and a characteristic face. Approximately 75% of all patients have a del (15q). Ceph‐alometric roentgenograms of 20 PWS patients of both sexes (12 adults, 8 children, age 4.5–50.0 years) were analyzed to determine if the facial appearance is reflected in changes in the bony architecture, a characteristic which might be useful in diagnosis and/or dental treatment of these individuals. PWS subjects were compared with chronologic age and sex‐matched control individuals derived from the Denver Growth study using 52 point computer analyzed lateral head‐plate tracings performed by the same individual (RS). The mean Z‐score differences for mandibular and maxillary total length, ramus height, mandibular corpus length, posterior facial height, and mid‐facial height were all significantly smaller in >65% of the PWS subjects; this was more evident in the PWS children. The Z‐score difference for posterior cranial base was very large in most PWS adults and children whereas lower facial height was small or normal in all subjects. No statistical difference in mean Z‐score measurements was found for all these measures in PWS subjects with or without the 15q chromosome deletion. The overall small bony structures contrast with the relatively large soft tissue draping seen especially in obese adults. The data suggest that a characteristic bony model might be created for PWS which could be of use in diagnosis and in the treatment of PWS patients by their orthodontist.
Expanded spectrum of findings in Marden‐Walker syndrome
Authors: Giacoia George P. , Pineda Ramon 
Published: September 2005

AbstractRecently, we examined a small‐for‐gestational age infant with blepharophimosis, congenital contractures of elbows, hips, and knees, fixed facial expression, and hypotonia. These congenital anomalies are consistent with a diagnosis of the Marden‐Walker syndrome. The infant also had an omphalomesenteric duct, left hypoplastic kidney, hypoplastic right lower lobe of the lung, and displacement of the larynx to the right; these anomalies have not been described previously in this syndrome. A summary of the clinical manifestations of the previously reported patients is presented.
Partial trisomy 18 with minimal anomalies: Lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18
Authors: Wilson Golder N. , Heller Karen B. , Elterman Roy D. , Schneider Nancy R. 
Published: September 2005

AbstractA 2‐year‐old boy with microcephaly, developmental delay, and minimal anomalies was found to have an extra submetacentric chromosome equivalent to 18pter‐→q12. Review of the phenotypes produced by various triplicated 18 regions supports the hypothesis that no one chromosome 18 region is sufficient to produce the phenotype of trisomy 18. The mild phenotype of trisomy 18p, the variable phenotype of trisomy 18pter‐→q12, and the discontinuous phenotype of triplication for band 18q12 alone emphasizes that the contribution of triplicated loci to the phenotype is neither additive nor invariant.
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
Authors: Hagstrom Stephanie A. , Pauer Gayle J.T. , Reid Janet , Simpson Ellen , Crowe Sue , Maumenee Irene H. , Traboulsi Elias I. 
Published: September 2005

AbstractThe SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a DNA‐binding high‐mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in SOX2. Here, we report a novel nonsense mutation in one female patient with bilateral clinical anophthalmia, absence of all optic pathways, and other neurological abnormalities. The mutation, Q155X, creates a premature termination codon early in the transcriptional activation domain and is likely to be a null allele. Our data show that mutations in SOX2 can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development. © 2005 Wiley‐Liss, Inc.
Screening for new MTHFR polymorphisms and NTD risk
Authors: O'Leary Valerie B. , Mills James L. , Parle‐McDermott Anne , Pangilinan Faith , Molloy Anne M. , Cox Christopher , Weiler Andrea , Conley Mary , Kirke Peadar N. , Scott John M. , Brody Lawrence C. 
Published: September 2005

AbstractThe enzyme, 5,10‐methylenetetrahydrofolate reductase (MTHFR) plays a key role in cellular folate metabolism. The A222V (677C‐>T) polymorphism is a confirmed neural tube defect (NTD) risk factor within Irish and other populations. To search for other unknown single nucleotide polymorphisms (SNPs) that might play a role in the etiology of NTDs, we examined the entire MTHFR coding region in healthy individuals (n = 100). SNPs were identified using sequencing and database analysis and allele frequencies were determined in our Irish population. We identified P39P (116C‐>T; T allele frequency 0.13) and previously reported R594Q (1793G‐>A; Q allele frequency 0.07). We screened a large ethnically homogeneous Irish NTD cohort (n>1,300) for P39P and R594Q. A possible association between NTD cases and P39P (P = 0.034) was found but this was not confirmed by transmission disequilibrium testing. R594Q also showed some evidence of a NTD case association (P = 0.07). Further analysis indicated these observations are due to linkage disequilibrium with A222V (677C‐>T), and therefore these new SNPs are unlikely to be independent risk factors for NTDs. As rates of NTDs differ between ethnic groups, we examined allele and genotype frequencies of P39P and R594Q within African‐American and American‐Caucasian populations. This is the first NTD association study of both R594Q and the novel P39P. The association with NTD risk reported for these SNPs is driven by the linkage disequilibrium with the A222V (677C‐>T) NTD risk factor. Published 2005 Wiley‐Liss, Inc.
Developmentally regulated expression of Shh and Ihh in the developing mouse cranial base: Comparison with Sox9 expression
Authors: Nie Xuguang , Luukko Keijo , Kvinnsland Inger Hals , Kettunen Päivi 
Published: September 2005

AbstractThe cranial base, located between the cranial vault and the facial bones, plays an important role in integrated craniofacial development and growth. Transgenic Shh and Sox9‐deficient mice show similar defects in cranial base patterning. Therefore, in order to examine potential interactions of Shh, Ihh, another member of the Hh family, and Sox9 during cranial base development and growth, we investigated their cellular mRNA expression domains in the embryonic (E) and early postnatal (PN) cranial base from E10 to PN5 using sectional radioactive 35‐S in situ hybridization. Of the Hhs, Shh was observed in the foregut epithelium and the notochord, while Sox9 showed broad expression in the loose mesenchyme of the cranial base area during E10–E11. Subsequently, from E12 onward, all genes were observed in the developing cranial base, and after birth the genes were prominently colocalized in the prehypertrophic chondrocytes of the synchondroses. Collectively, these data suggest that Hh‐Sox9 auto‐ and paracrine signaling interactions may provide a critical mechanism for regulating the patterning of the cranial base as well as for its development and growth. © 2005 Wiley‐Liss, Inc.
Fasting serum sulfate levels before and after development of osteoarthritis in participants of the veterans administration normative aging longitudinal study do not differ from levels in participants in whom osteoarthritis did not develop
Authors: Blinn Christina M. , Dibbs Elaine R. , Hronowski Lucjan J. J. , Vokonas Pantel S. , Silbert Jeremiah E. 
Published: September 2005

AbstractObjectiveTo determine whether the development of osteoarthritis (OA) in men over a 33‐year period is related to lower sulfate levels in stored serum collected during that time interval.MethodsStored serum samples from participants in the Veterans Administration Normative Aging Study were assayed for sulfate by ion‐exchange chromatography. Samples had been obtained every 3–5 years during part or all of a 33‐year portion of the study. Sulfate levels were determined in serum from all participants who underwent knee replacement surgery and had evidence of radiographic hand OA, from some of the participants who had evidence of radiographic hand OA but had not undergone knee replacement surgery, from all participants who underwent knee replacement surgery but had no evidence of radiographic hand OA, and from age‐matched participants who had no evidence of OA by history, physical examination, or hand radiography.ResultsSerum sulfate levels in participants, with or without radiographic hand OA and/or knee replacements, who were ages 34–72 years at the first examination, ranged from 0.21 mM to 0.51 mM over the course of a maximum of 33 years. Both the overall mean and median sulfate levels rose from 0.32 mM at age 40–50 years to 0.38 mM at age 70–80 years, and the overall mean and median for all ages was 0.36 mM. There were no significant differences in sulfate levels between subjects in any of the 4 groups.ConclusionThere was no evidence of a relationship between these serum sulfate levels and the development of OA. However, all samples were collected after overnight fasting, and no participant was younger than age 34 years at the initiation of the study. It remains to be determined whether differences in the time of ingestion of daily dietary protein providing sulfate are related to the development of OA, or whether sulfate levels measured at an earlier age could be a factor.
Secondary gait changes in patients with medial compartment knee osteoarthritis: Increased load at the ankle, knee, and hip during walking
Authors: Mündermann Annegret , Dyrby Chris O. , Andriacchi Thomas P. 
Published: September 2005

AbstractObjectiveThis study tested the hypothesis that gait changes related to knee osteoarthritis (OA) of varied severity are associated with increased loads at the ankle, knee, and hip.MethodsForty‐two patients with bilateral medial compartment knee OA and 42 control subjects matched for sex, age, height, and mass were studied. Nineteen patients had Kellgren/Lawrence (K/L) radiographic severity grades of 1 or 2, and 23 patients had K/L grades of 3 or 4. Three‐dimensional kinematics and kinetics were measured in the hip, knee, and ankle while the subjects walked at a self‐selected speed.ResultsPatients with more severe knee OA had greater first peak knee adduction moments than their matched control subjects (P = 0.039) and than patients with less severe knee OA (P < 0.001). All patients with knee OA made initial contact with the ground with the knee in a more extended position than that exhibited by control subjects. An increased axial loading rate was present in all joints of the lower extremity. Patients with more severe knee OA had lower hip adduction moments compared with their matched control subjects.ConclusionThe secondary gait changes observed among patients with knee OA reflect a potential strategy to shift the body's weight more rapidly from the contralateral limb to the support limb, which appears to be successful in reducing the load at the knee in only patients with less severe knee OA. The increased loading rate in the lower extremity joints may lead to a faster progression of existing OA and to the onset of OA at joints adjacent to the knee. Interventions for knee OA should therefore be assessed for their effects on the mechanics of all joints of the lower extremity.
The genetic contribution to longitudinal changes in knee structure and muscle strength: A sibpair study
Authors: Zhai Guangju , Ding Changhai , Stankovich James , Cicuttini Flavia , Jones Graeme 
Published: September 2005

AbstractObjectiveTo estimate the heritability of longitudinal changes in knee cartilage volume, chondral defects, subchondral bone size, and lower limb muscle strength.MethodsA sibpair design was used. Longitudinal changes in lateral and medial tibial cartilage volume and bone size, as well as progression of chondral defects, were determined on serial magnetic resonance images. Radiographs were obtained and scored for individual features of radiographic osteoarthritis (OA) at baseline. Lower limb muscle strength was measured by dynamometry. Heritability was estimated using the SOLAR software package.ResultsA total of 115 subjects (55 men and 60 women, mean age 45 years) from 48 families representing 95 sibling pairs were successfully followed up for a mean of 2.4 years. The adjusted heritability estimates for changes in cartilage volume were 73% for the medial compartment (P < 0.01) and 40% for the lateral compartment (P = 0.10). The adjusted heritability estimates for changes in bone size were 62% for the lateral compartment (P = 0.03) and 20% for the medial compartment (P = 0.22). The adjusted heritability estimate for changes in muscle strength was 64% (P = 0.01). The adjusted heritability estimates for progression of chondral defects were 80% for the lateral compartment (P = 0.06) and 98% for the medial compartment (P = 0.03). These estimates changed little after adjusting for each other and for the predominantly mild radiographic OA, with the exception of progression of chondral defects in the lateral compartment.ConclusionEarly longitudinal changes in knee structures of relevance to later OA, such as changes in medial tibial cartilage volume, lateral tibial bone size, progression of chondral defects, and muscle strength, have high heritability, most likely reflecting a strong genetic component and suggesting their potential to be studied in quantitative trait linkage and association analysis.