bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rapid Magnetic Resonance Imaging vs Radiographs for Patients With Low Back Pain
Authors: Jarvik Jeffrey G. , Hollingworth William , Martin Brook , Emerson Scott S. , Gray Darryl T. , Overman Steven , Robinson David , Staiger Thomas , Wessbecher Frank , Sullivan Sean D. , Kreuter William , Deyo Richard A. 
Published: June 2003

ContextFaster magnetic resonance imaging (MRI) scanning has made MRI a potential cost-effective replacement for radiographs for patients with low back pain. However, whether rapid MRI scanning results in better patient outcomes than radiographic evaluation or a cost-effective alternative is unknown.ObjectiveTo determine the clinical and economic consequences of replacing spine radiographs with rapid MRI for primary care patients.Design, Setting, and PatientsRandomized controlled trial of 380 patients aged 18 years or older whose primary physicians had ordered that their low back pain be evaluated by radiographs. The patients were recruited between November 1998 and June 2000 from 1 of 4 imaging centers in the Seattle, Wash, area: a university-based teaching program, a nonuniversity-based teaching program, and 2 private clinics.InterventionPatients were randomly assigned to receive lumbar spine evaluation by rapid MRI or by radiograph.Main Outcome MeasuresBack-related disability measured by the modified Roland questionnaire. Secondary outcomes included Medical Outcomes Study 36-Item Short Form Health Survey (SF-36), pain, preference scores, satisfaction, and costs.ResultsAt 12 months, primary outcomes of functional disability were obtained from 337 (89%) of the 380 patients enrolled. The mean back-related disability modified Roland score for the 170 patients assigned to the radiograph evaluation group was 8.75 vs 9.34 for the 167 patients assigned the rapid MRI evaluation group (mean difference, −0.59; 95% CI, −1.69 to 0.87). The mean differences in the secondary outcomes were not statistically significant : pain bothersomeness (0.07; 95% CI −0.88 to 1.22), pain frequency (0.12; 95% CI, −0.69 to 1.37), and SF-36 subscales of bodily pain (1.25; 95% CI, −4.46 to 4.96), and physical functioning (2.73, 95% CI −4.09 to 6.22). Ten patients in the rapid MRI group vs 4 in the radiograph group had lumbar spine operations (risk difference, 0.34; 95% CI, −0.06 to 0.73). The rapid MRI strategy had a mean cost of $2380 vs $2059 for the radiograph strategy (mean difference, $321; 95% CI, −1100 to 458).ConclusionsRapid MRIs and radiographs resulted in nearly identical outcomes for primary care patients with low back pain. Although physicians and patients preferred the rapid MRI, substituting rapid MRI for radiographic evaluations in the primary care setting may offer little additional benefit to patients, and it may increase the costs of care because of the increased number of spine operations that patients are likely to undergo.
Belt-Positioning Booster Seats and Reduction in Risk of Injury Among Children in Vehicle Crashes
Authors: Durbin Dennis R. , Elliott Michael R. , Winston Flaura K. 
Published: June 2003

ContextAlthough more than a dozen states have ratified laws that require booster seats for children older than 4 years, most states continue to have child restraint laws that only cover children through age 4 years. Lack of booster seat effectiveness data may be a barrier to passage of stronger child restraint laws.ObjectivesTo quantify the association of belt-positioning booster seats compared with seat belts alone and risk of injury among 4- to 7-year-old children and to assess patterns of injury among children in booster seats vs seat belts.Design, Setting, and PopulationCross-sectional study of children aged 4 to 7 years in crashes of insured vehicles in 15 states, with data collected via insurance claims records and a telephone survey. A probability sample of 3616 crashes involving 4243 children, weighted to represent 56 593 children in 48 257 crashes was collected between December 1, 1998, and May 31, 2002.Main Outcome MeasureParent report of clinically significant injuries.ResultsInjuries occurred among 1.81% of all 4- to 7-year-olds, including 1.95% of those in seat belts and 0.77% of those in belt-positioning booster seats. The odds of injury, adjusting for child, driver, crash, and vehicle characteristics, were 59% lower for children aged 4 to 7 years in belt-positioning boosters than in seat belts (odds ratio, 0.41; 95% confidence interval, 0.20-0.86). Children in belt-positioning booster seats had no injuries to the abdomen, neck/spine/back, or lower extremities, while children in seat belts alone had injuries to all body regions.ConclusionBelt-positioning booster seats were associated with added safety benefits compared with seat belts to children through age 7 years, including reduction of injuries classically associated with improper seat belt fit in children.
Length of Stay in Home Care Before and After the 1997 Balanced Budget Act
Authors: Murkofsky Rachel L. , Phillips Russell S. , McCarthy Ellen P. , Davis Roger B. , Hamel Mary Beth 
Published: June 2003

ContextPrior to 1997, home health agencies (HHAs) were reimbursed on a fee-for-service basis and had incentives to provide more services. The 1997 Balanced Budget Act (BBA) reduced payments for home care services to help control Medicare spending.ObjectiveTo examine the length of stay in home care before and after the 1997 BBA.Design and SettingCross-sectional study of home care patients in the 1996 and 1998 National Home and Hospice Care Surveys, which surveyed 1053 HHAs in 1996 and 1088 HHAs in 1998.PatientsNationally representative random sample of home care patients with Medicare coverage in 1996 (4127 patients) and 1998 (4051 patients).Main Outcome MeasureLength of stay in home care (based on the number of days a patient was enrolled in home care services).ResultsFrom 1996 to 1998, unadjusted median length of stay decreased by 16 days for all home care patients (60-44 days, P = .002). The decrease affected for-profit HHAs more than not-for-profit HHAs (111-55 days [51% decrease, P = .002] vs 46-36 days [22% decrease, P = .042]). In a Cox proportional hazards model of time to discharge from home care, post-BBA year (1998) was associated with a shorter length of stay in home care (adjusted hazard ratio [aHR] for home care discharge, 1.39 [95% confidence interval {CI}, 1.19-1.61]), and for-profit status was associated with a longer length of stay in home care (aHR, 0.82 [95% CI, 0.71-0.94]) after adjusting for patient demographics, diagnoses, and functional status.ConclusionAfter the 1997 BBA, length of stay in home care decreased among Medicare patients, particularly among those receiving care from for-profit HHAs.
Changes in Rates of Autopsy-Detected Diagnostic Errors Over Time
Authors: Shojania Kaveh G. , Burton Elizabeth C. , McDonald Kathryn M. , Goldman Lee 
Published: June 2003

ContextSubstantial discrepanies exist between clinical diagnoses and findings at autopsy. Autopsy may be used as a tool for quality management to analyze diagnostic discrepanies.ObjectiveTo determine the rate at which autopsies detect important, clinically missed diagnoses, and the extent to which this rate has changed over time.Data SourcesA systematic literature search for English-language articles available on MEDLINE from 1966 to April 2002, using the search terms autopsy, postmortem changes, post-mortem, postmortem, necropsy, and posthumous, identified 45 studies reporting 53 distinct autopsy series meeting prospectively defined criteria. Reference lists were reviewed to identify additional studies, and the final bibliography was distributed to experts in the field to identify missing or unpublished studies.Study SelectionIncluded studies reported clinically missed diagnoses involving a primary cause of death (major errors), with the most serious being those likely to have affected patient outcome (class I errors).Data ExtractionLogistic regression was performed using data from 53 distinct autopsy series over a 40-year period and adjusting for the effects of changes in autopsy rates, country, case mix (general autopsies; adult medical; adult intensive care; adult or pediatric surgery; general pediatrics or pediatric inpatients; neonatal or pediatric intensive care; and other autopsy), and important methodological features of the primary studies.Data SynthesisOf 53 autopsy series identified, 42 reported major errors and 37 reported class I errors. Twenty-six autopsy series reported both major and class I error rates. The median error rate was 23.5% (range, 4.1%-49.8%) for major errors and 9.0% (range, 0%-20.7%) for class I errors. Analyses of diagnostic error rates adjusting for the effects of case mix, country, and autopsy rate yielded relative decreases per decade of 19.4% (95% confidence interval [CI], 1.8%-33.8%) for major errors and 33.4% (95% [CI], 8.4%-51.6%) for class I errors. Despite these decreases, we estimated that a contemporary US institution (based on autopsy rates ranging from 100% [the extrapolated extreme at which clinical selection is eliminated] to 5% [roughly the national average]), could observe a major error rate from 8.4% to 24.4% and a class I error rate from 4.1% to 6.7%.ConclusionThe possibility that a given autopsy will reveal important unsuspected diagnoses has decreased over time, but remains sufficiently high that encouraging ongoing use of the autopsy appears warranted.
14q(22) deletion in a familial case of anophthalmia with polydactyly
Authors: Ahmad M.E. , Dada Rima , Dada Tanuj , Kucheria Kiran 
Published: June 2003

AbstractWe report a family of anophthalmia with ocular and extraocular manifestations. The proband, his three sisters, and two sons had anophthalmia and preaxial polydactyly in the right hand. Cytogenetic analysis was done for the proband and two of his sons, one of whom was affected. Another male child was affected but was not available for cytogenetic analysis. Karyotypes of both affected individuals showed deletion on long arm of 14q22q23. Literature review shows four cases of anophthalmia with extra ocular anomalies associated with 14q (q22q23) deletion. Recently it has been suggested that the human homeobox gene, SIX6, and the BMP‐4 gene are responsible for eye development. Both are located in the chromosome 14q22.3‐q23 region. Deletion in this region has been known to be associated with anophthalmia and pituitary anomalies. This is the first family of anophthalmia, which showed polydactyly with a chromosomal deletion in the 14q22‐q23 region and its familial transmission in two generations with a total of six affected individuals. © 2003 Wiley‐Liss, Inc.
Margareta Mikkelsen
Authors: Miao Jinmin 
Published: June 2003

AbstractMargareta Mikkelsen, a well‐known Danish cytogeneticist, started to research autosome aberrations in 1959 and built the first chromosome laboratory at the University of Copenhagen with Anders Frøland. In 1968, she developed a fully functional chromosome laboratory from scratch at the John F. Kennedy Institute (JFKI). Not only the laboratory performed diagnoses all over Denmark, but also it is a sole place among all the departments of human genetics to train Danes to be clinical geneticists. A generation of Danish geneticists grew up under Dr. Mikkelsen's wing. Dr. Mikkelsen played a pioneering role in research on Down syndrome (DS) and exploring the source of the extra chromosome 21 remains her main interest. She performed the first case of prenatal diagnosis by amniocentesis in Denmark and since then, she was active in this field. The JFKI also committed to research on the fragile X syndrome. Dr. Mikkelsen took on many public responsibilities in Denmark and in Europe. She was on the board of many Danish scientific organizations and an active member of the European Society of Human Genetics (ESHG). She was efficient in public education with communication in lay language. After her retirement, she was more dynamic in medical ethics. Born as Irmtraud Wieser in Munich, Dr. Mikkelsen walked through the hardship of pre‐war Germany, the inferno of the World War II, the trauma brought by her two husbands' alienation, the obstacles in work, and physical ailment to fulfill her unwavering commitment to human genetics. © 2003 Wiley‐Liss, Inc.
US physicians' attitudes toward genetic testing for cancer susceptibility
Authors: Freedman A.N. , Wideroff L. , Olson L. , Davis W. , Klabunde C. , Srinath K.P. , Reeve B.B. , Croyle R.T. , Ballard‐Barbash R. 
Published: June 2003

AbstractGenetic testing for an inherited susceptibility to cancer is an emerging technology in medical practice. Little information is currently available about physicians' attitudes toward these tests. To assess US physicians' opinions on unresolved issues surrounding genetic testing, a 15‐min survey was administered to a stratified random sample of 1,251 physicians from 8 specialties, selected from a file of all licensed physicians in the US (response rate = 71.0%). Dependent measures included physicians' attitudes toward genetic counseling and testing qualifications, availability of guidelines, patient confidentiality and insurance discrimination issues, and clinical utility of genetic tests. More than 89% of physicians reported a need for physician guidelines, 81% thought that patients with positive genetic test results are at risk for insurance discrimination, and more than 53% thought that it was difficult to ensure the confidentiality of test results. Almost 25% indicated that genetic tests for cancer susceptibility have too many inaccurate or ambiguous results; nearly 75% thought that clear guidelines are not available for managing patients with positive test results. Only 29% of physicians reported feeling qualified to provide genetic counseling to their patients. More than 84% of oncologists considered themselves qualified to recommend genetic testing to their patients compared with 40% of primary care physicians (PCPs), and 57% of tertiary care physicians (TCPs). US physicians expressed great uncertainty about issues surrounding genetic testing for cancer susceptibility. Results of this national survey underscore the need to provide physicians with clear guidelines on the use of genetic cancer susceptibility tests and effective medical training on their appropriate implementation. Published 2003 Wiley‐Liss, Inc.
Designation of the TARP syndrome and linkage to Xp11.23‐q13.3 without samples from affected patients
Authors: Kurpinski Kyle T. , Magyari Patricia A. , Gorlin Robert J. , Ng David , Biesecker Leslie G. 
Published: June 2003

AbstractThe Robin sequence is a well‐known cause of cleft palate and can be sporadic or familial, isolated or syndromic. We present a four‐generation family with a lethal disorder inherited in an X‐linked recessive pattern that includes Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava. We have designated this disorder “TARP” syndrome. All affected males die in infancy of unknown causes. An X‐chromosome linkage scan was performed using 14 unaffected members of a single large family and 40 STRP markers. The gene was mapped to an 11‐cM region in Xp11.23‐q13.3. Markers DXS1003 and DXS8092 flank the region and three‐point linkage analyses revealed a maximum LOD score of 2.75 at marker DXS1039. We have designated this locus as TARP. This locus was mapped without genotyping any affecteds and demonstrates that rare, lethal disorders can be evaluated by genetic linkage, even when no affected probands are available for study. Published 2003 Wiley‐Liss, Inc.
Homozygous Gly555Glu mutation in the nuclear‐encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II
Authors: Van Coster Rudy , Seneca S. , Smet J. , Van Hecke R. , Gerlo E. , Devreese B. , Van Beeumen J. , Leroy J.G. , De Meirleir L. , Lissens W. 
Published: June 2003

AbstractA homozygous mutation in the flavoprotein (Fp) gene associated with complex II deficiency was demonstrated in a patient with consanguineous parents. She succumbed at 5½ months of age following a respiratory infection. The c1664G→A transition detected, predicted the substitution of the small uncharged glycine at position 555 by glutamic acid. Her clinical course was at variance with the Leigh syndrome in three previously reported patients due to Fp gene mutations. In this proband, CRM for flavoprotein as well as iron‐containing protein (Ip) was decreased, CRM for the entire complex II (130 kDa) being reduced even more. This observation prompts speculation of a labile interaction between Ip and Fp polypeptides and of a key role of the amino acid at position 555 in the interacting domain. © 2003 Wiley‐Liss, Inc.
Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome
Authors: Ricci Verena , Filocamo Mirella , Regis Stefano , Corsolini Fabio , Stroppiano Marina , Duca Marco Di , Gatti Rosanna 
Published: June 2003

AbstractHunter syndrome (Mucopolysaccharidosis type II) is a rare X‐linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate‐2‐sulfatase (IDS). To date, more than 200 different mutations have been reported in the IDS gene, located on Xq27.3–q28. Here, we report two new mutations (M488I and G489A) identified in hemizygosity in an Italian Hunter patient. Their “in vitro” expression by COS 7 cells was carried out in order to evaluate their functional consequence on enzyme activity as well as their possible cumulative effect on the malfunctioning of the protein. The results obtained enabled us to confirm the G489A mutation as causative. The M488I mutation, however, could not be unequivocally considered as causing disease because of its residual activity. Although a cumulative effect of the two mutations can be excluded “in vitro,” we are cautious about drawing a conclusion with regard to the possible role that the two mutations could have played “in vivo” in modulating the phenotype of the patient. Finally, the knowledge of the molecular defect of the patient has enabled us to identify the carriers, providing reliable genetic counselling to the females of the family. © 2003 Wiley‐Liss, Inc.
Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the dystrophin gene: The possible role of repeated motifs in mutation generation
Authors: Todorova Albena , Constantinova Dimitrina , Kremensky Ivo 
Published: June 2003

AbstractHere we report a boy with dilated cardiomyopathy and severe Duchenne muscular dystrophy (DMD). The disease‐causing mutation was a new 16 bp deletion in exon 44 of the dystrophin gene, which led to frameshifting and premature translation termination. This deletion in exon 44 was associated with dilated cardiomyopathy. The dystrophin region in exon 44 might be considered as one of the high‐risk regions in which mutations could lead to myocardial damage, dilated cardiomyopathy, and early death. The abundance of repeated motifs was detected within the deleted segment and in the region. These sequence motifs might be involved in secondary structure formation and thus they could participate in the mutation generation. © 2003 Wiley‐Liss, Inc.
Delineation of a newly recognized neurocutaneous malformation syndrome with “cutis tricolor”
Authors: Ruggieri Martino , Iannetti Paola , Pavone Lorenzo 
Published: June 2003

AbstractThe term “cutis tricolor” describes the combination of congenital hyper‐ and hypo‐pigmented lesions, in close proximity to each other with a background of normal skin. Cutis tricolor represents twin spotting and has been reported as an isolated skin disorder or as part of a neurocutaneous malformation syndrome. We report on an 11‐year‐old girl with diffuse pigmentary changes of the cutis tricolor type, facial anomalies, mental retardation, epileptic seizures, EEG anomalies, small skull, progressive double‐curved thoracolumbar/lumbar scoliosis with vertebral scalloping and dysplastic vertebral pedicles and ribs, and tibial bowing. These abnormalities are similar to those observed in cases reported by Happle et al. [1997: J Med Genet 34:676–678] and Ruggieri [2000: Eur J Pediatr 159:745‐749]. Additionally, our patient had altered behavior and hypoplasia of the corpus callosum. This constellation of abnormalities represents a newly recognized neurocutaneous malformation syndrome. The phenotype could be explained by somatic mutation. Loss of heterozygosity at an early developmental stage would give rise to one single mosaic skin disorder (e.g., generalized skin manifestations of the cutis tricolor type in association to extracutaneous anomalies). Postzygotic recombination occurring later during embryogenesis would give rise to solitary lesions confined to the skin. © 2003 Wiley‐Liss, Inc.
Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations
Authors: Debeer Philippe , Peeters H. , Driess S. , De Smet L. , Freese K. , Matthijs G. , Bornholdt D. , Devriendt K. , Grzeschik K.‐H. , Fryns J.‐P. , Kalff‐Suske M. 
Published: June 2003

AbstractGreig cephalopolysyndactyly (GCPS) (OMIM 175700) is an autosomal dominant disorder characterized by a distinct combination of craniofacial, hand and foot malformations. In this report, clinical and radiological findings of 12 patients with GCPS derived from 4 independent families and 3 sporadic cases with documented GLI3 mutations are presented with particular emphasis on inter‐ and intrafamilial variability. In a particularly instructive family in which 9 members of 4 generations could be studied clinically and molecularly, a missense mutation (R625W) is transmitted and shows a partially penetrant pattern. In a branch of the family, the GCPS phenotype skips a generation via a normal female carrier without clinical signs providing evidence that GCPS does not always manifest full penetrance as generally supposed. © 2003 Wiley‐Liss, Inc.
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children
Authors: Kleta Robert , Aughton David J. , Rivkin Michael J. , Huizing Marjan , Strovel Erin , Anikster Yair , Orvisky Eduard , Natowicz Marvin , Krasnewich Donna , Gahl William A. 
Published: June 2003

AbstractThe differential diagnosis of developmental delays and growth retardation in early childhood includes the allelic lysosomal sialic acid storage disorders, Salla disease and infantile free sialic acid storage disease (ISSD). These diseases, due to defective free sialic acid transport out of lysosomes, derive from mutations in theSLC17A5gene coding for the protein sialin. We present two patients with clinical, biochemical, and molecular data indicative of lysosomal free sialic acid storage disorders. One patient, with a severe clinical course typical of ISSD, had 86‐fold elevated levels of fibroblast free sialic acid, with 62% in the lysosomal fraction. HisSLC17A5mutations include a 148‐bp deletion of exon 9, due to a G > A splice site mutation in position 1 of intron 9, and a 15‐bp deletion (del 801–815) in exon 6. Another patient, with “intermediate severe” Salla disease, had 9‐fold elevated levels of free sialic acid in cultured fibroblasts, of which 87% resided in the lysosomal fraction. This girl is compound heterozygous for theSLC17A5mutation commonly found in Finnish Salla disease patients (R39C) and a 15‐bp deletion found in ISSD patients (del 801–815). These observations emphasize the importance of considering free sialic acid disorders in infants with developmental delays and growth retardation, regardless of whether they are of Finnish ancestry. © 2003 Wiley‐Liss, Inc.