bluuebunny/crossref_metadata_2025_split huggingface dataset:
Symptom domains in autism and related conditions: Evidence for familiality
Authors: Silverman Jeremy M. , Smith Christopher J. , Schmeidler James , Hollander Eric , Lawlor Brian A. , Fitzgerald Michael , Buxbaum Joseph D. , Delaney Katherine , Galvin Patricia 
Published: August 2002

AbstractHeterogeneity in autism impairs efforts to localize and identify the genes underlying this disorder. As autism comprises severe but variable deficits and traits in three symptom domains (social interaction, communication, and repetitive behaviors) and shows variability in the presence and emergence of useful phrase speech, different genetic factors may be associated with each. The affected cases (n = 457) in multiply affected siblingships (n = 212), including a proband with autism and one or more siblings with either autism or marked deficits in autism symptom domains, were assessed using the Autism Diagnostic Interview, Revised. Symptom domain scores and language features were examined to determine their similarity within siblingships. The variance within siblingships was reduced for the repetitive behavior domain and for delays in and the presence of useful phrase speech. These features and the nonverbal communication subdomain provided evidence of familiality when we considered only the diagnosis of autism to define multiply affected siblingships (cases: n = 289; siblingships: n = 136). In addition, the same familial features identified also appeared familial for those with autism‐related conditions. Finally, the level of severity of almost all of the familial features varied within multiplex siblingships independently. The features identified as familial replicate the combined set suggested in earlier, smaller studies. Furthermore, the familiality of these features extend to related conditions of milder severity than autism and appear to be independent. Making distinctions among families by the severity of these features may be useful for identifying more genetically homogeneous subgroups in studies targeted at genes for specific autism‐related symptom domains. © 2001 Wiley‐Liss, Inc.
Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature
Authors: Zeesman Susan , Carson Nancy , Whelan Donald T. 
Published: August 2002

AbstractMyotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, it was thought that CDM could only be maternally transmitted. However, in the last few years, cases of paternal transmission of CDM have been described. We report a child with the CDM phenotype and 1, 800 CTG repeats born to an asymptomatic father with 65 repeats and compare this case to the four currently in the literature. We note that polyhydramnios was present in the majority of cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth. Although it may be unusual, the possibility of the paternal transmission of CDM should be mentioned when counseling families with DM. The men who are at highest risk may be those who have small repeats sizes and are asymptomatic. © 2001 Wiley‐Liss, Inc.
Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida
Authors: Shaw Gary M. , Lammer Edward J. , Zhu Huiping , Baker Mei Wang , Neri Eric , Finnell Richard H. 
Published: August 2002

AbstractWomen who consume folic acid in early pregnancy reduced their risks for delivering offspring with neural tube defects (NTDs). The underlying process by which folic acid facilitated this risk reduction is unknown. Investigating genetic variation that influences cellular absorption, transport, and metabolism of folate will help fill this data gap. We focused our studies on a candidate gene that is involved in folate transport, the reduced folate carrier 1 (RFC1). Using data from a California population–based case control interview study (1989–1991 birth cohorts), we investigated whether spina bifida risk was influenced by an interaction between a polymorphism of infant RFC1 at nucleotide 80 (A80G) and maternal periconceptional use of vitamins containing folic acid. Allelic variants of RFC1 were determined by genotyping 133 live‐born spina bifida case infants and 188 control infants. The percentages of case infants with the A80/A80, G80/G80, and G80/A80 genotypes were 27.2%, 28.0%, and 44.7%, respectively. The percentages of control infants were similar: 26.1%, 29.3%, and 44.7%. Odds ratios of 1.0 (95% confidence interval 0.5–2.0) for the G80/G80 genotype and 1.1 (0.6–2.0) for the G80/A80 genotype were observed relative to the A80/A80 genotype. Among mothers who did not use vitamins, spina bifida risk was 2.4 (0.8–6.9) for infants with genotype G80/G80 compared to those with A80/A80 genotype. Among mothers who did use vitamins, the risk was 0.5 (0.1–3.1) for infants with the G80/G80 genotype. Although this study did not find an increased spina bifida risk for infants who were heterozygous or homozygous for RFC1 A80G, it did reveal modest evidence for a gene‐nutrient interaction between infant homozygosity for the RFC1 G80/G80 genotype and maternal periconceptional intake of vitamins containing folic acid on the risk of spina bifida. © 2002 Wiley‐Liss, Inc.
Anticipation in a unique family with Charcot‐Marie‐Tooth syndrome and deafness: Delineation of the clinical features and review of the literature
Authors: Kovach M.J. , Campbell K.C.M. , Herman K. , Waggoner B. , Gelber D. , Hughes L.F. , Kimonis V.E. 
Published: August 2002

AbstractCharcot‐Marie‐Tooth disease (CMT) is a clinically and genetically heterogeneous group of polyneuropathies characterized by degeneration of peripheral nerves, resulting in distal muscle atrophy, sensory loss, and deformities of hands and feet. We have studied 34 individuals in a large 84‐member four‐generation central Illinois family with autosomal dominant Charcot‐Marie‐Tooth and deafness. Nerve conduction velocities are consistent with type 1 CMT. Audiological evaluation revealed both auditory neuropathy and cochlear involvement in affected individuals. There is increasing clinical severity and younger age of onset of CMT and deafness with each progressive generation, suggestive of anticipation (P < 0.05). The proband, a female diagnosed at birth with hypotonia, bilateral vocal cord palsy, swallowing incoordination, and hearing impairment, died at age 18 months. Another individual died at the age of 3 months from hypotonia later attributed to CMT. Genetic analysis indicated that affected individuals in this family do not have the common 1.4 Mb duplication associated with type 1A CMT; however, all affected individuals have a unique G to C transversion at position 248 in coding exon 3 of the peripheral myelin PMP22 gene located on chromosome 17p11.2‐p12. This mutation is predicted to cause an Ala67Pro substitution in the second transmembrane domain of PMP22, consistent with the molecular cause of the CMT phenotype. However, it does not explain the cochlear component of the deafness, the clinical observation of anticipation, and other features in this family. © 2002 Wiley‐Liss, Inc.
Familial digital arthropathy‐brachydactyly
Authors: Amor David J. , Tudball Coral , Gardner R.J. McKinlay , Lamandé Shireen R. , Bateman John F. , Savarirayan Ravi 
Published: August 2002

AbstractWe report a large family with a previously undescribed, dominantly inherited condition comprising arthropathy of the hands and feet and progressive shortening of the middle and distal phalanges. We have designated the condition familial digital arthropathy‐brachydactyly (FDAB). Onset of FDAB is in the first decade and the arthropathy is progressive, resulting in deformity and pain in adult life. The remainder of the skeleton is not affected. It is hypothesized from the radiological appearance of patients at different ages that FDAB might result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. © 2002 Wiley‐Liss, Inc.
Investigation of linkage and association/linkage disequilibrium of HLA A‐, DQA1‐, DQB1‐, and DRB1‐alleles in 69 sib‐pair‐ and 89 trio‐families with schizophrenia
Authors: Schwab Sibylle G. , Hallmayer Joachim , Freimann Julia , Lerer Bernard , Albus Margot , Borrmann‐Hassenbach Margitta , Segman Ronnen H. , Trixler Matyas , Rietschel Marcella , Maier Wolfgang , Wildenauer Dieter B. 
Published: August 2002

AbstractThe hypothesis that HLA antigens confer susceptibility to schizophrenic disorders has been tested by studying linkage and association in a family sample with 69 sib‐pair families. Suggestive evidence for linkage was obtained by nonparametric multipoint LOD score analysis with a maximum around DQB CAR (P = 0.0004), a microsatellite marker that is in linkage disequilibrium with the HLA antigen DQB1. Spurious evidence for negative association as calculated by the transmission disequilibrium test was found for HLA‐ DRB1*11 (chi‐square = 11.72, corrected P value = 0.03) and for the haplotype DQB1*301—DQA1*501—DRB1*11 (chi‐square = 11.3, corrected P value = 0.043). No evidence of association with these alleles was obtained in a sample of 89 trios with schizophrenic offspring and parents. Our results are not in favor of a direct involvement of the HLA system in development of schizophrenia, but are compatible with the possible existence of a susceptibility gene in the MHC region at chromosome 6p 21.31. © 2002 Wiley‐Liss, Inc.
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome
Authors: Cargile Colyn B. , Goh Denise L.‐M. , Goodman Barbara K. , Chen Xiao‐Ning , Korenberg Julie R. , Semenza Gregg L. , Thomas George H. 
Published: August 2002

AbstractDeletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consistent with deletion 3p syndrome (ptosis, microcephaly, growth retardation, and developmental delay) and a subtle interstitial deletion in the distal portion of the short arm of chromosome 3, del(3)(p25.3p26.2). Fluorescence in situ hybridization (FISH) studies using 3p subtelomeric probes confirmed the terminal region of chromosome 3 was present. Sequence tagged sites (STS)‐linked BAC clones mapping to chromosomal region 3p25‐p26 were used to characterize the interstitial deletion by FISH. The results indicate the deletion is within a region of approximately 4.5 Mb between STS markers D3S3630 and D3S1304. This interstitial deletion lies within all previously reported terminal deletions in deletion 3p syndrome individuals, and represents the smallest reported deletion associated with deletion 3p syndrome. Characterization of the deletion may help identify genes important to growth and development that contribute to the deletion 3p syndrome phenotype when present in a hemizygous state. © 2002 Wiley‐Liss, Inc.
Familial complex chromosomal rearrangement resulting in a recombinant chromosome
Authors: Berend Sue Ann , Bodamer Olaf A.F. , Shapira Stuart K. , Shaffer Lisa G. , Bacino Carlos A. 
Published: August 2002

AbstractFamilial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three‐way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified. © 2002 Wiley‐Liss, Inc.
Familial aggregation of dyslexia phenotypes. II: Paired correlated measures
Authors: Hsu Li , Wijsman Ellen M. , Berninger Virginia W. , Thomson Jennifer B. , Raskind Wendy H. 
Published: August 2002

AbstractDyslexia is a common and complex behavioral disorder characterized by unexpected difficulty in learning to read. Psychometric measures used to assess dyslexia often evaluate overlapping processes or abilities. To identify subphenotypes amenable to model‐based linkage analyses, we have used careful language phenotyping, familial aggregation analyses of single phenotype measures, and segregation analyses. In the current study, to identify covariates to use in future segregation analyses we examined six pairs of related measures selected from among the most promising candidates in the initial aggregation analyses whose aggregation patterns were most consistent with a genetic basis. For these reciprocal aggregation analyses each measure is evaluated with the paired measure as the covariate to obtain information about the interdependence of the paired measures on shared genetic factors. Six pairs of measures were evaluated: 1) accuracy and efficiency of phonological decoding; 2) phonological nonword memory and written spelling; 3) phonological decoding accuracy and written spelling; 4) inattention ratings and rapid automatized naming for switching letters and numerals (RAS); 5) inattention ratings and oral reading rate; and 6) RAS and oral reading rate. Results of these analyses provide evidence that there may be a genetic contribution to efficiency of phonological decoding in addition to the genetic contribution it shares with accuracy of phonological decoding, a genetic contribution to phonological nonword memory in addition to the genetic contribution it shares with written spelling, a genetic contribution to written spelling in addition to the genetic contribution it shares with accuracy of phonological decoding, and a genetic contribution to inattention ratings in addition to the genetic contribution it shares with either RAS or oral reading rate. © 2002 Wiley‐Liss, Inc.
Can phenology explain the scarcity of folivory in New World primates?
Authors: Heymann Eckhard W. 
Published: August 2002

AbstractI evaluated the hypothesis that the scarcity of folivorous neotropical primate taxa is due to fruiting and leafing occurring in phase in the New World. I compiled phenological information from different primatological studies, and correlated patterns of fruiting and leafing. Contrary to the prediction of the hypothesis, at most sites there was no synchronization of fruiting and leafing. Thus, the scarcity of folivorous platyrrhine taxa can not be attributed to specific phenological patterns of the neotropics. Some potential alternative hypotheses are suggested. Am. J. Primatol. 55:171–175, 2001. © 2001 Wiley‐Liss, Inc.
Middle Eocene primate tarsals from China: Implications for haplorhine evolution
Authors: Gebo Daniel L. , Dagosto Marian , Beard K. Christopher , Qi Tao 
Published: August 2002

AbstractWe describe tarsal remains of primates recovered from the Middle Eocene (∼45 mya) Shanghuang fissures in southern Jiangsu Province, China. These tarsals document the existence of four higher‐level taxa of haplorhine primates and at least two adapid species. The meager and poorly preserved adapid material exhibits some similarities to European adapines like Adapis. The haplorhine primates are divided into two major groups: a “prosimian group” consisting of Tarsiidae and an unnamed group that is anatomically similar to Omomyidae; and an “anthropoid group“ consisting of Eosimiidae and an unnamed group of protoanthropoids. The anthropoid tarsals are morphologically transitional between omomyids (or primitive haplorhines) and extant telanthropoids, providing the first postcranial evidence for primates which bridge the prosimian‐anthropoid gap. All of the haplorhines are extremely small (most are between 50–100 g), and the deposits contain the smallest euprimates ever documented. The uniqueness of this fauna is further highlighted by the fact that no modern primate community contains as many tiny primates as does the fauna from Shanghuang. Am J Phys Anthropol 116:83–107, 2001. © 2001 Wiley‐Liss, Inc.
Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy
Authors: Taivassalo Tanja , Abbott Amy , Wyrick Phil , Haller Ronald G. 
Published: August 2002

AbstractA cardinal feature of impaired skeletal muscle oxidative metabolism in mitochondrial myopathies is a limited ability to increase the extraction of O2 from blood relative to the increase in O2 delivery by the circulation during exercise. We investigated whether aerobic forearm exercise would result in an abnormal increase in venous effluent O2 in patients with impaired skeletal muscle oxidative phosphorylation attributable to mitochondrial disease. We monitored the partial pressure of O2 (PO2) in cubital venous blood at rest, during handgrip exercise, and during recovery in 13 patients with mitochondrial myopathy and exercise intolerance and in 13 healthy control and 11 patient control subjects. Resting and recovery venous effluent PO2 were similar in all subjects, but during exercise venous PO2 paradoxically rose in mitochondrial myopathy patients from 27.2 ± 4.0mmHg to 38.2 ± 13.3mmHg, whereas PO2 fell from 27.2 ± 4.2mmHg to 24.2 ± 2.7mmHg in healthy subjects and from 27.4 ± 9.5mmHg to 22.2 ± 5.2mmHg in patient controls. The range of elevated venous PO2 during forearm exercise in mitochondrial myopathy patients (32 to 82mmHg) correlated closely with the severity of oxidative impairment as assessed during cycle exercise. We conclude that measurement of venous PO2 during aerobic forearm exercise provides an easily performed screening test that sensitively detects impaired O2 use and accurately assesses the severity of oxidative impairment in patients with mitochondrial myopathy and exercise intolerance.
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
Authors: Corcia Philippe , Mayeux‐Portas Véronique , Khoris Jawad , de Toffol Bertrand , Autret Alain , Müh Jean‐Pierre , Camu William , Andres Christian , the French ALS Research Group  
Published: August 2002

AbstractThe etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies), compared with 4% of controls. An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.
Verbal memory in left temporal lobe epilepsy: Evidence for task‐related localization
Authors: Weintrob David L. , Saling Michael M. , Berkovic Samuel F. , Berlangieri Salvatore U. , Reutens David C. 
Published: August 2002

AbstractWe explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe epilepsy. Uptake of 18F‐fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory for arbitrarily and semantically related verbal paired associates were examined in 27 patients with left temporary lobe epilepsy. Scores from memory tests performed outside the scanner were regressed against normalized resting FDG uptake at each voxel. Significant regression was seen in the left perirhinal cortex (Talaraich coordinates x, y, z: −29, 10, −34; p < 0.05) for arbitrarily related word pairs. For semantically related paired associates, significant regression was present in the left inferior temporal gyrus (x, y, z: −48, −18, −24; p < 0.05). In subsequent analyses, mean FDG uptake within a spherical region of interest centered on the perirhinal peak predicted performance on both tasks. Mean FDG uptake in a region of interest centered on the inferior temporal peak made an additional, independent contribution to memory for semantically related pairs. Hippocampal volumes did not explain any additional variance in memory scores. Our findings indicate that heterogeneity in the left temporal lobe structures mediating verbal memory function, and support the view that the perirhinal cortex is an important mnemonic substrate.
Matrix metalloproteinases and their tissue inhibitors as markers of disease subtype and response to interferon‐β therapy in relapsing and secondary‐progressive multiple sclerosis patients
Authors: Galboiz Yanina , Shapiro Sarah , Lahat Nitza , Rawashdeh Hannah , Miller Ariel 
Published: August 2002

AbstractMatrix metalloproteinases (MMPs) have recently been implicated in the pathogenesis of multiple sclerosis. Their suggested role includes the disruption of the blood–brain barrier, immune cell transmigration into the central nervous system, and myelin degradation. The present study characterized the mRNA level of a wide spectrum of MMPs and tissue inhibitors of metalloproteinases (TIMPs) expressed by peripheral blood leukocytes from relapsing‐remitting (n = 16) and secondary‐progressive (n = 12) multiple sclerosis patients. The expression of the same MMPs and TIMPs was evaluated also in a prospective 12‐month follow‐up of 6 patients randomly chosen from each of the 2 groups during interferon‐β‐1a treatment. Reverse transcription‐polymerase chain reaction assessment demonstrated elevated levels of MT1‐MMP and MMP‐7 mRNA levels in both groups of patients, and no significant differences in MMP‐9 levels, compared with healthy controls. Divergent expression of MMP‐2 between relapsing‐remitting and secondary‐progressive patients compared with controls was observed. IFN‐β treatment was associated with significant suppression of MMP‐9 and MMP‐7 mRNA in relapsing‐remitting patients, though no significant changes were observed in the secondary‐progressive group. These results contribute to the understanding of the interferon‐β‐mediated immunomodulatory and therapeutic effects in multiple sclerosis patients and also support evidence for distinct immune mechanism(s) underlying relapsing‐remitting‐ versus secondary‐progressive multiple sclerosis. The study also suggests that MMPs may be considered as potential biomarkers for response to treatment as well as targets for immunotherapy in multiple sclerosis.
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
Authors: Wibrand Flemming , Ravn Kirstine , Schwartz Marianne , Rosenberg Thomas , Horn Nina , Vissing John 
Published: August 2002

AbstractMitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in muscle (88%) and leukocytes (15%), and changes a highly conserved tyrosine to cysteine at amino acid position 278.