bluuebunny/crossref_metadata_2025_split huggingface dataset:
Health‐related quality of life in physically active and sedentary obese women
Authors: Hulens M. , Vansant G. , Claessens A.L. , Lysens R. , Muls E. , Rzewnicki R. 
Published: October 2002

AbstractThe aim was to assess dimensions of health‐related quality of life (HRQL) in women attending an obesity clinic, and to rate differences in HRQL in those with the highest and lowest levels of physical activity (PA). The sample included 113 sedentary and 101 physically active subjects from a total sample of 375 overweight women 16–65 years, with a body mass index (BMI) ≥27.5 kg/m2 consulting at an outpatient Endocrinology Clinic, and 82 lean female volunteers who served as a reference. Weight, height, body composition, PA, physical medical conditions, depression, body image, cognitive‐behavioral conceptualization of obesity, eating behavior, functional status, walking ability, exercise capacity, social functioning, and general health and perceived quality of life were assessed cross‐sectionally. The prevalence of medical conditions and depression was not statistically different (P<0.05) in sedentary and active women. In sedentary obese women, body attitude, walking ability, and aerobic fitness were poorer; the number of people to turn to for social support was smaller; physical attributions about the basis of the subjects obesity were less pronounced; and eating was more the consequence of external triggers or diffuse emotions than in physically active obese women (P<0.05). The findings indicate that a higher level of PA in an obese female clinical population was positively associated with diverse dimensions of HRQL. However, it was not possible to determine if these favorable aspects of HRQL are the cause or the consequence of a higher PA level. Am. J. Hum. Biol. 14:777–785, 2002. © 2002 Wiley‐Liss, Inc.
Distinct craniofacial‐skeletal‐dermatological dysplasia in a patient with W290C mutation in FGFR2
Authors: Shotelersuk Vorasuk , Ittiwut Chupong , Srivuthana Sumarlee , Mahatumarat Charan , Lerdlum Sukalaya , Wacharasindhu Suthipong 
Published: October 2002

AbstractMutations in the fibroblast growth factor receptor genes (FGFR) have been known to be associated with many craniosynostosis syndromes with overlapping phenotypes. We studied a 15‐year‐old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies of T9–12, humero‐radio‐ulnar joints, intercarpal joints, distal interphalangeal joints of fifth fingers, fibulo‐tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. The patient was a heterozygous for a 870G → T change resulting in a W290C amino acid substitution in the extracellular domain of the fibroblast growth factor receptor 2 gene (FGFR2). This mutation has previously been reported in a patient with severe Pfeiffer syndrome type 2 that is distinct from the craniosynostosis in our patient. These findings emphasize locus, allelic, and phenotypic heterogeneity of craniofacial‐skeletal‐dermatological syndrome due to FGFR2 mutations. © 2002 Wiley‐Liss, Inc.
Genetic disease in the 1960s: A structural revolution
Authors: Lindee M. Susan 
Published: October 2002

AbstractFrom about 1955 to about 1975, an explosion of new institutions, disciplines, databases, interventions, practices, techniques, and ideas turned technically driven human genetics from a medical backwater to an exotic and appealing medical research frontier. In the early 1960s, health care professionals were attracted to the new insights of cytogenetics, including the chromosomal explanation of Down syndrome and of other congenital defects and abnormalities of sexual development. The discovery of a connection between myeloid leukemia and chromosomal abnormalities in leukemic cells made human cytogenetics suddenly relevant to cancer research and diagnosis. Successful dietary treatment of phenylketonuria brought genetic disease into the domain of public health and provoked legislative programs with sweeping long‐term consequences. Meanwhile, those promoting the importance of genetic disease to medical education began to elaborate the idea that disease was literally becoming more genetic, as a consequence of techno‐historical change. In this article, I present an overview of these remarkable events and a framework for understanding how and why they occurred. I emphasize the important roles of family members, religious isolates, legislators, pediatricians, and others who were not trained in genetic science, but who became advocates, at many levels, of genetic medicine. And I suggest that the idea, so important to the Human Genome Project, that “all disease is genetic disease” was structurally realized and institutionalized long before technologies for mapping the genome were available. © 2002 Wiley‐Liss, Inc.
Hunting for a hypoglycemia gene: Severe neonatal hypoglycemia in a consanguineous family
Authors: Molven Anders , Rishaug Unni , Matre Guri E. , Njølstad Pål R. , Søvik Oddmund 
Published: October 2002

AbstractHypoglycemia is a dreaded complication in diabetes mellitus patients treated with insulin, but is also a symptom that is observed in many disorders. In some metabolic diseases of early infancy, low blood glucose is the major presentation and the condition can become life‐threatening. Such cases are often attributed to inherited hyperinsulinism. Vidnes and Øyasæter [1977: Pediatr Res 11:943–949] described a son of consanguineous Pakistani parents with severe neonatal hypoglycemia and concluded that the patient probably suffered from an isolated glucagon deficiency. We have continued the investigation of this family, which now includes a hypoglycemic daughter and two healthy children. The original diagnosis is questioned because the second case of hypoglycemia can be explained by hyperinsulinism. We proceeded with microsatellite marker analysis for selected candidate genes under the assumption that the condition is autosomal recessive and that affected children are homozygous for a mutated allele. The four known genetic causes for inborn hyperinsulinism (mutations in the genes ABCC8, KCNJ11, GLUD1, and GCK) were excluded. Furthermore, we eliminated 13 candidate genes coding for transcription factors involved in pancreas development and differentiation. The analysis was also negative for the genes encoding insulin and glucagon, their receptors, and processing enzymes. The identification of a novel gene for persistent neonatal hypoglycemia can be expected to yield fundamental information about glucose homeostasis, and will therefore have implications for the understanding of diabetes as well. © 2002 Wiley‐Liss, Inc.
Gastrointestinal complications of Russell‐Silver syndrome: A pilot study
Authors: Anderson Jeff , Viskochil David , O'Gorman Molly , Gonzales Chad 
Published: October 2002

AbstractRussell‐Silver syndrome (RSS) is a genetic syndrome with clinical manifestations of intrauterine and postnatal growth retardation, normal head circumference, body asymmetry, and distinctive facial appearance. We followed an infant diagnosed with RSS who had occurrence of multiple gastrointestinal complications. Although there are a number of published reports describing gastrointestinal problems associated with RSS, specific gastrointestinal diseases have not been recognized as major features. We hypothesize that gastrointestinal complications may be more frequent in RSS cases than previously reported. To address our hypothesis, we developed a pilot study of RSS cases to identify and characterize associated gastrointestinal complications. Surveys were distributed by MAGIC, a support group for individuals with RSS. Surveys included information on the objective and subjective characteristics used to diagnose RSS, as well as descriptions of gastrointestinal problems. Completed surveys were returned on 135 individuals. We used strict diagnostic guidelines to determine affected status of children reported in our survey. Of the 135 surveys completed, 65 were determined to have clear‐cut RSS. The diagnoses were made without knowledge of the gastrointestinal symptoms of any of the subjects. Of the 65 subjects with “clear cut” RSS, 50 (77%) had gastrointestinal symptoms. Major specific symptoms included gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). A common theme in gastrointestinal complications of RSS is significant gastroesophageal reflux that includes esophagitis and food aversion. Results of this survey suggest that there is an association of gastrointestinal complications with RSS that should be addressed in diagnosis as well as management protocols for children with this condition. © 2002 Wiley‐Liss, Inc.
Pulmonary agenesis: Expansion of the VCFS phenotype
Authors: Conway Karen , Gibson Ronald , Perkins Jonathan , Cunningham Michael L. 
Published: October 2002

AbstractIn this report, we describe a child with the typical craniofacial manifestations of velocardiofacial syndrome (VCFS), a 22q11.2 deletion, and unilateral pulmonary agenesis. The 22q11.2 deletion syndromes are associated with malformations presumed to be caused by a disruption of cephalic neural crest cell migration during the fourth week of embryonic development. We suggest that the pulmonary agenesis seen in this case is related to a disruption of the dorsal aortic arch development that selectively interfered with lung bud growth. We suggest that pulmonary agenesis should be considered part of the spectrum of malformations seen in 22q11.2 deletion. © 2002 Wiley‐Liss, Inc.
Fetal akinesia deformation sequence: A study of 30 consecutive in utero diagnoses
Authors: Witters Ingrid , Moerman Philippe , Fryns Jean‐Pierre 
Published: October 2002

AbstractThe etiology of the fetal akinesia deformation sequence (FADS) is heterogeneous and can be the result of neurogenic and myopathic disorders, restrictive dermopathy, teratogen exposure, and intrauterine constraint. We present the prenatal and fetopathological findings in a consecutive series of 30 affected fetuses with normal chromosomal results. According to the in utero time of onset of the fetal akinesia, the severity of the phenotype varied from a severe, generalized FADS in the early‐onset group to milder defects, as isolated distal arthrogryposis in the late‐onset group. No more than 10% (3/30) were diagnosed in the first trimester of pregnancy and all presented a severe phenotype. Twenty‐seven of the thirty (90%) were diagnosed after the first trimester, with a severe FADS in 15/27 and a milder phenotype of distal arthrogryposis in 12/27. In all 30 patients, extensive neuropathological studies (brain, spinal cord, and muscles) were performed. In 16 patients (53%) a specific diagnosis could be made (central nervous system abnormalities 9/16; spinal cord 1/16; primary myopathy 3/16; syndromic 3/16). In 10 others (33%), pathological neuromuscular findings were present but no definitive diagnosis was established. In 4 patients (13%), neuromuscular findings were normal, and the etiology of the FADS remained unexplained. © 2002 Wiley‐Liss, Inc.
Meiotic origin of two ring chromosomes 18 in a girl with developmental delay
Authors: Baumer A. , Giovannucci Uzielli M.L. , Guarducci S. , Lapi E. , Röthlisberger B. , Schinzel A. 
Published: October 2002

AbstractWe report on the cytogenetic, fluorescence in situ hybridization (FISH), and molecular results obtained for a patient with a mild and nonspecific pattern of minor anomalies and developmental delay. In the proband's karyotype one chromosome 18 was replaced by a ring chromosome 18 in all metaphases, with deletion of the terminal regions. Furthermore, 56% of the metaphases contained a supernumerary small ring chromosome. Microdissection followed by FISH analysis demonstrated that the small ring chromosome consisted of material from the pericentromeric region of chromosome 18. The karyotype was defined as 46,XX,r(18)(p11.3q23)[88]/47,XX,r(18)(p11.3q23)+r(18)(p11.22q12.2)[112]. Thus, the patient has a deletion at 18pter and at 18qter, and a mosaic partial trisomy of the pericentromeric region of chromosome 18. We undertook molecular analysis using DNA samples of the patient and her parents in order to clarify the origin and possible mode of formation of the chromosome abnormalities. Our results show a paternal origin of the structurally normal chromosome 18 and a maternal origin for both ring chromosomes 18. Interestingly, the smaller ring chromosome did not arise postzygotically from the larger ring, since the two ring chromosomes contain genetic material derived from the two different maternal chromosomes 18. The abnormalities appear to have arisen during a meiotic division, and it could be speculated that both ring chromosomes 18 arose simultaneously due to complex pairing and recombination events. After fertilization, the small ring chromosome was lost in a subset of cells, thus leading to mosaicism. © 2002 Wiley‐Liss, Inc.
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
Authors: Tsujikawa Kaoru , Tsujikawa Motokazu , Yamamoto Shuji , Fujikado Takashi , Tano Yasuo 
Published: October 2002

AbstractLattice corneal dystrophies (LCDs) are caused by mutations of the transforming growth factor beta‐induced gene (TGFBI, formerly βig‐h3). LCD type IIIA (LCDIIIA) has been reported mostly from Japan. In this study, we demonstrate allelic homogeneity for Japanese patients with LCDIIIA, using intragenic polymorphic markers. When exon 11 of TGFBI was analyzed, all 18 patients examined were found to be heterozygous for both a P501T mutation and an IVS10‐3C → T variation. On the other hand, none of 54 normal Japanese control subjects had the P501T, and 5 of the controls were heterozygous for IVS10‐3C → T. Haplotype analysis of the patients revealed that both P501T and IVS10‐3C → T were located on the same chromosome, and a significant linkage disequilibrium (P < 0.001, Fisher's exact probability test) was observed between LCDIIIA (P501T) and IVS10‐3C → T. When exon 8 of the gene was analyzed, all these patients possessed the “G allele” of a 1028G/A polymorphism. A significant linkage disequilibrium (P < 0.003; chi‐square test) was also observed between P501T and the G allele in the patients. These results suggest that allelic homogeneity seen in Japanese patients with LCDIIIA may result from a single founder mutation. © 2002 Wiley‐Liss, Inc.
Autopsy case of microcephalic osteodysplastic primordial “dwarfism” type II
Authors: Fukuzawa Ryuji , Sato Seiji , Sullivan Michael J. , Nishimura Gen , Hasegawa Tomonobu , Matsuo Nobutake 
Published: October 2002

AbstractMicrocephalic osteodysplastic primordial “dwarfism” (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I–III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese girl with typical clinical and radiological manifestations of MOPD type II. The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and V‐shaped metaphyses of the distal femora. Other than small cerebral hemispheres, no neuropathological abnormalities were found. Chondro‐osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary trabeculae. These findings suggest that impairment of chondrocytic formation and differentiation is the major pathogenesis of MOPD type II. © 2002 Wiley‐Liss, Inc.
Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio‐oto‐cardio‐skeletal (BOCS) syndrome?
Authors: Basel‐Vanagaite Lina , Shohat Mordechai , Udler Yevgenia , Karmazin Boaz , Levit Orly , Merlob Paul 
Published: October 2002

AbstractThis article describes a boy with an unusual combination of features, namely, intrauterine growth retardation, short stature, branchial cyst, sensorineural hearing loss, congenital heart defect, rib and vertebral abnormalities, micromelia, brachymesophalangia, and absence of phalanges. We suggest that these findings comprise a new entity of combined branchio‐oto and cardio‐digital developmental field abnormalities, which we termed branchio‐oto‐cardio‐skeletal syndrome. The pattern of inheritance remains uncertain. © 2002 Wiley‐Liss, Inc.
A whole‐genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature
Authors: Deng Hong‐Wen , Xu Fu‐Hua , Liu Yao‐Zhong , Shen Hui , Deng Hongyi , Huang Qing‐Yang , Liu Yong‐Jun , Conway Theresa , Li Jin‐Long , Davies K.M. , Recker Robert R. 
Published: October 2002

AbstractHuman height is a complex trait under the control of both genetic and environment factors. In order to identify genomic regions underlying the variation of stature, we performed a whole‐genome linkage analysis on a sample of 53 human pedigrees containing 1,249 sib pairs, 1,098 grandparent–grandchildren pairs, 1,993 avuncular pairs, and 1,172 first‐cousin pairs. Several genomic regions were suggested by our study to be linked with human height variation. These regions include 5q31 at 144 cM from pter on chromosome 5 (with a maximum LOD score of 2.14 in multipoint linkage analyses), Xp22 at the marker DXS1060, and Xq25 at DXS1001 on the X chromosome (with LOD scores of 1.95 and 1.91, respectively, in two‐point linkage analyses). Noticeably, Xp22 happens to be the very region where a newly identified gene underlying idiopathic short stature, SHOX, maps. Based on our findings, further confirmation and fine‐mapping studies are to be pursued on expanded samples and/or with denser markers for eventual identification of major functional genes involved in human height variation. © 2002 Wiley‐Liss, Inc.
A cystic fibrosis patient with two novel mutations in mitochondrial DNA: Mild disease led to delayed diagnosis of both disorders
Authors: Wong Lee‐Jun C. , Liang Min‐Hui , Kwon Haeyoung , Bai Ren‐Kui , Alper Özgül , Gropman Andrea 
Published: October 2002

AbstractA 21‐year‐old woman who has been suspected of mitochondrial cytopathy, but negative for common mitochondrial DNA (mtDNA) point mutations and deletions, was screened for unknown mutations in the entire mitochondrial genome by temporal temperature gradient gel electrophoresis (TTGE). Her asymptomatic mother's blood DNA was also analyzed and used as a reference. Two tRNA regions showing different TTGE patterns between the proband and her mother were sequenced. Two novel mutations, G15995A in tRNApro and A8326G in tRNAlys, were revealed. These mutations are present in heteroplasmic states. They both occurred at a nucleotide position that is highly conserved throughout evolution. This patient is also a compound heterozygote for the cystic fibrosis (CF) mutations, ΔF508 and R347P. The phenotype for R347P has been associated with mild disease. Due to the mild features of the R347P mutation in the CF transmembrane conductance regulator (CFTR) gene and the heterogeneous clinical presentation of the mtDNA disease, the patient was not definitively diagnosed until age 21. This case underscores the importance of a complete mutational analysis of the entire mitochondrial genome when a patient suspected of mitochondrial disorder is negative for common mtDNA mutations. © 2002 Wiley‐Liss, Inc.
Quantitative CSF PCR in Epstein–Barr virus infections of the central nervous system
Authors: Weinberg Adriana , Li Shaobing , Palmer Megan , Tyler Kenneth L. 
Published: October 2002

AbstractAcute Epstein–Barr virus (EBV) infection of the central nervous system (CNS) is associated with meningoencephalitis and other neurological syndromes and with CNS lymphomas (CNSLs). Diagnosis is based on serological studies and more recently on detection of EBV DNA in cerebrospinal fluid (CSF) by polymerase chain reaction (PCR). We measured EBV DNA by quantitative PCR and EBV mRNA by RT‐PCR in the CSF in patients with EBV‐associated neurological disorders. EBV was identified as the cause of CNS infection in 28 patients: 14 with CNSL, 10 with encephalitis, and 4 with postinfectious neurological complications. CSF analysis showed that patients with CNSL had high EBV load (mean ± standard error of 4.8 ± 0.2 log10 DNA copies/ml) and low leukocyte counts (22 ± 7 cells/μl); encephalitis was characterized by high EBV load (4.2 ± 0.3 log10 DNA copies/ml) and high leukocyte counts (143 ± 62 cells/μl); and patients with postinfectious complications showed low EBV load (3.0 ± 0.2 log10 DNA copies/ml) with high leukocyte counts (88 ± 57 cells/μl). Lytic cycle EBV mRNA, a marker of viral replication, was identified in 10 CSF samples from patients with CNSL and encephalitis. These studies demonstrate the utility of quantitative CSF PCR and establish the presence of lytic cycle EBV mRNA in CSF of patients with EBV‐associated neurological disease.
A susceptibility gene for late‐onset idiopathic Parkinson's disease
Authors: Hicks Andrew A. , Pétursson Hjörvar , Jónsson Thorlákur , Stefánsson Hreinn , Jóhannsdóttir Hrefna S. , Sainz Jesus , Frigge Michael L. , Kong Augustine , Gulcher Jeffrey R. , Stefánsson Kári , Sveinbjörnsdóttir Sigurlaug 
Published: October 2002

AbstractEight regions of the genome (PARK1‐8) have been implicated in autosomal dominant and autosomal recessive forms of early‐onset Parkinson's disease. These forms constitute a few of all cases. However, except for a haplotype in six families (PARK3), no study has successfully mapped a gene or described mutations that contribute to the common late‐onset Parkinson's disease. Some have even suggested that a genetic component does not exist. We cross‐matched our nationwide genealogy database with a population‐based list of Icelandic Parkinson's disease patients to search for families with more than one patient. We performed a genomewide scan on 117 patients and 168 of their unaffected relatives within 51 families using 781 microsatellite markers. Allele‐sharing, model‐independent analysis of the results showed linkage to a region on chromosome 1p32 with a logarithm of odds score of 3.9 (Zlr= 4.2). By increasing the information content with additional microsatellite markers in this region, we found that the logarithm of odds score increased to 4.9 (Zlr= 4.8). This result corresponds to an unadjustedpvalue of 1.0 × 10−6andp< 0.005 after adjusting for a genomewide search. We designate this regionPARK10. We therefore have successfully mapped, to genomewide significance, a susceptibility gene for late‐onset Parkinson's disease using multiple families drawn across a whole population. Identification of the susceptibility gene in this region may pave the way for a better understanding of the disease process, which, in turn, may lead to improved diagnostics and therapeutics.
Disruption of the proprioceptive mapping in the medial wall of parkinsonian monkeys
Authors: Escola Ludovic , Michelet Thomas , Douillard Gaelle , Guehl Dominique , Bioulac Bernard , Burbaud Pierre 
Published: October 2002

AbstractParkinsonian patients present an impairment of proprioceptor‐guided movement that could imply abnormal processing in the frontal mesial cortex. To test this hypothesis, we compared neuronal response to joint displacement in the supplementary and presupplementary motor areas of two monkeys, before and after the progressive establishment of an 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP)–induced parkinsonian syndrome. After MPTP administration, neurons were activated by the passive movement of numerous joints in various directions and no longer simply by one or two joints in one direction. This impairment of the focused selection of proprioceptive inputs, imputable to dopamine depletion, could impede motor planning and thus contribute to akinesia.