bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ethnicity‐related skeletal muscle differences across the lifespan
Authors: Silva Analiza M. , Shen Wei , Heo Moonseong , Gallagher Dympna , Wang Zimian , Sardinha Luis B. , Heymsfield Steven B. 
Published: June 2009

AbstractDespite research and clinical significance, limited information is available on the relations between skeletal muscle (SM) and age in adults, specifically among Hispanics, African Americans (AA), and Asians. The aim was to investigate possible sex and ethnic SM differences in adults over an age range of 60 years. Subjects were 468 male and 1280 female adults (≥18 years). SM was estimated based on DXA‐measured appendicular lean‐soft tissue using a previously reported prediction equation. Locally weighted regression smoothing lines were fit to examine SM trends and to localize age cutoffs; piecewise multiple linear regression models were then applied, controlling for weight and height, to identify age cutoffs for sex‐specific changes in SM among the ethnic groups. The age of 27 years was identified for women and men as the cut‐off after which SM starts to show a negative association with age. Both sexes had a similar ethnic pattern for expected mean SM at the age cutoff, with AA presenting the highest SM values, followed by Whites, Hispanics, and Asians. After the age cutoffs, the lowering of SM differed by ethnicity and sex: AA women showed the greatest SM lowering whereas Hispanic women had the least. Hispanic men tended to show a higher negative association of SM with age followed by AA and Whites. To conclude, significant sex and ethnic differences exist in the magnitude of negative associations of SM with age >27 years. Further studies using a longitudinal design are needed to explore the associations of ethnicity‐related decline of SM with health risks. Am. J. Hum. Biol. 2010. © 2009 Wiley‐Liss, Inc.
Longitudinal weight gain of immunized infants and toddlers in Moroto District, Uganda (Karamoja subregion)
Authors: Gray Sandra , Akol Helen A. , Sundal Mary 
Published: June 2009

AbstractThis study examines longitudinal weight gain of a sample of 123 immunized children from Moroto District, northeast Uganda. The weight data were combined from two sources: (1) anthropometric examinations carried out between 1998 and 2004 by a research team from the University of Kansas, and (2) weights recorded on children's immunization records by local health care practitioners. Our findings conform generally to the pattern described in previous studies in this as well as other pastoralist populations in sub‐Sahara. Relative to international standards, the weight‐for‐age status of Karimojong children was best during the first 3 months of infancy. Noticeable declines in weight velocity occurred in the fourth month and after the sixth month. Weight gain was static after the second year, when upward of 40% of children were clinically underweight. Factors influencing weight gain in this sample include immunization status and maternal height, weight, and parity, but these effects explain relatively little of the variance in weight gain. We conclude that immunization is not sufficient to buffer Karimojong children from multiple stressors during teething and weaning. Of these, the practice of canine follicle extraction (CFE) is of most interest, although its effects in this study are ambiguous. The data also are suggestive of variability in the pattern of weight gain between closely spaced birth cohorts. This finding may be of particular importance for the interpretation of growth patterns described for other pastoralist populations in sub‐Saharan Africa. Am. J. Hum. Biol. 2010. © 2009 Wiley‐Liss, Inc.
Beta‐globin gene cluster haplotypes in Afro‐Uruguayans from two geographical regions (South and North)
Authors: Da Luz Julio , Kimura Elza Miyuki , Costa Fernando Ferreira , Sonati Maria de Fatima , Sans Mónica 
Published: June 2009

AbstractThe β‐globin gene cluster haplotypes were identified in 52 and 40 chromosomes from two Afro‐Uruguayan populations located in the South and North of the country, respectively. In both regions, the 5′ haplotype 2 (+ − − − −), characteristic of non‐African populations, was the most frequent, reflecting a strong process of admixture in Afro‐Uruguayans (0.355 and 0.262, respectively). The haplotypes 3 (− − − − +) and 4 (− + − − +), characteristics of African sub‐Saharan populations, present inverse frequencies in North and South: whereas in the South haplotype 3 is the second most frequent (0.232), and haplotype 4 presents a low frequency (0.019), in the North haplotype 4 is the third most frequent (0.140), and haplotype 3 only reaches an intermediate frequency (0.088). The pairwise FST and the exact test of differentiation show genetic heterogeneity between both regions. Nei's genetic distance show that South and North present affinities with Bantu groups, although the North present the smallest genetic distance with the Mandenka, a Senegalese population. With respect to 3′ haplotypes, haplotype I was the most frequent in both populations, followed by haplotype II, characteristic of sub‐Saharan Africans. The high frequencies of haplotype III‐Asian could indicate admixture with Native American populations. The differences observed between both Uruguayan regions could be explained by microevolutionary events as genetic drift, founder effects, differential admixture, and/or distinct origin of the African slaves introduced in those regions. Am. J. Hum. Biol. 2010. © 2009 Wiley‐Liss, Inc.
Asbestos exposure and benign asbestos diseases in 772 formerly exposed workers: Dose–response relationships
Authors: Mastrangelo Giuseppe , Ballarin Maria N. , Bellini Ernesto , Bicciato Fabio , Zannol Federica , Gioffrè Francesco , Zedde Antonio , Tessadri Gianna , Fedeli Ugo , Valentini Flavio , Scoizzato Luca , Marangi Gianluca , Lange John H. 
Published: June 2009

AbstractBackgroundSince previous studies have provided conflicting results, we investigated the relationship between the risk of benign asbestos‐related diseases and different aspects of asbestos exposure in previous asbestos workers who underwent low‐dose computed tomography (CT).MethodsCT scans were carried out in 772 subjects. A questionnaire was employed to collect data on smoking habits and duration, peak and cumulative exposure, and time since first exposure to asbestos. Multiple logistic regression models with stepwise selection of variables were used to evaluate the associations.ResultsFourteen (1.8%) cases of asbestosis, 187 (24.2%) of pleural plaques (PP), and 50 (6.5%) of diffuse pleural thickening (DPT) were found. The significant risk factors were: cumulative exposure for asbestosis (P for trend = 0.004); time since first exposure (P for trend <0.001), and peak exposure (P for trend <0.001) for PP; and time since first exposure for DPT (P for trend = 0.024).ConclusionsParenchymal asbestosis and PP are associated with different aspects of asbestos exposure. DPT appears to be less specific for asbestos exposure. Am. J. Ind. Med. 52:596–602, 2009. © 2009 Wiley‐Liss, Inc.
Mortality patterns among workers exposed to arsenic, cadmium, and other substances in a copper smelter
Authors: Marsh Gary M. , Esmen Nurtan A. , Buchanich Jeanine M. , Youk Ada O. 
Published: June 2009

AbstractObjectiveTo evaluate the long‐term mortality experience of workers exposed to arsenic, cadmium, and other substances at a copper mine and smelter in Copperhill, Tennessee studied earlier as part of an industry‐wide study.MethodsSubjects were 2,422 male workers employed three or more years in the smelter or mill between 1/1/46 until the plant strike and scale‐down of operations in April 1996. Vital status was determined through 2000 for 99.4% of subjects and cause of death for 91.3% of 878 deaths. Historical exposures were estimated for lead, SO2, arsenic, cadmium, dust, and cobalt. We computed standardized mortality ratios (SMRs) based on U.S. and local county rates and modeled internal relative risks (RRs).ResultsWe observed overall deficits in deaths based on national and local county comparisons from all causes, all cancers and most of the cause of death categories examined. We found limited evidence of increasing mortality risks from cerebrovascular disease with increasing duration and cumulative arsenic exposure, but no evidence of an exposure–response relationship for cadmium exposure and bronchitis.ConclusionsOur limited evidence of an association between inhaled arsenic exposure and CVD is an exploratory finding not observed in other epidemiology studies of more highly exposed occupational populations. Possible alternative explanations include chance alone and uncontrolled confounding or effect modification by co‐exposures or other factors correlated with arsenic exposure and unique to the Copperhill facility. Am. J. Ind. Med. 52:633–644, 2009. © 2009 Wiley‐Liss, Inc.
Compensation costs of work‐related back disorders among union carpenters, Washington State 1989–2003
Authors: Lipscomb Hester J. , Dement John M. , Silverstein Barbara , Cameron Wilfrid , Glazner Judith E. 
Published: June 2009

AbstractBackgroundWe measured resources used to provide medical care and to estimate lost productivity represented by payments for lost work time or impairment for work‐related back injuries among a large cohort of union carpenters over 15 years.MethodsUsing administrative data we identified a cohort of carpenters, their hours worked, their workers' compensation claims and associated costs. After adjustment for inflation and discounting to 2006 dollars, yearly costs for injuries and payment rates based on hours worked were calculated. Using negative binomial regression, dollars paid per claim were modeled based on age, gender, union tenure, and predominant type of work of the carpenter and whether the injury resulted from overexertion or acute trauma.ResultsWorkers' compensation costs for back injuries exceeded $128 million dollars between 1998 and 2003, representing payments of $0.97 for each hour of work. Costs per hour of work declined substantively over time due largely to declining overexertion injury rates. Traumatic injuries, though less common than overexertion injuries, were more expensive. Costs increased with the number of prior back injuries and with increasing age, beginning as early as age 30.ConclusionsIncreasing costs even among relatively young carpenters likely reflect the heavy nature of their work rather than simply the effects of biological aging. Musculoskeletal back problems remain a common, and consequently costly, source of injury among these carpenters that needs to be addressed through engineering modifications; there are also clearly needs for prevention of the often more costly back injuries associated with acute trauma. Am. J. Ind. Med. 52:587–595, 2009. © 2009 Wiley‐Liss, Inc.
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH
Authors: Masurel‐Paulet Alice , Callier Patrick , Thauvin‐Robinet Christel , Chouchane Mondher , Mejean Nathalie , Marle Nathalie , Mosca Anne‐Laure , Salem Douraied Ben , Giroud Maurice , Guibaud Laurent , Huet Frédéric , Mugneret Francine , Faivre Laurence 
Published: June 2009

AbstractWe describe a 46‐month‐old child presenting with developmental delay, mild facial dysmorphism, micropenis, strabismus and striking multiple cysts of the corpus callosum who was found to have a de novo interstitial 3.1 Mb 15q24.1q24.2 microdeletion using a 244 K microarray‐based comparative genomic hybridization (array‐CGH). The cystic lesions were located in the anterior half of the corpus callosum and did not take up gadolinium contrast. There was no other brain abnormality, and the gyral pattern and myelination were normal. There was no history of infectious disease or vascular injury and a metabolic disease was ruled out. Such cystic lesions of the corpus callosum are exceptional in the pediatric literature. Although these brain abnormalities have not been described in other reports with 15q24 microdeletion, we believe that they might be related to the cytogenetic abnormality since the work‐up for other causes was negative. We suggest that a chromosomal rearrangement should be ruled out when such corpus callosum lesions are identified. © 2009 Wiley‐Liss, Inc.
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
Authors: Thomas N. Simon , Harvey John F. , Bunyan David J. , Rankin Julia , Grigelioniene Giedre , Bruno Damien L. , Tan Tiong Y. , Tomkins Susan , Hastings Robert 
Published: June 2009

AbstractDeletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long‐range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri–Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences. © 2009 Wiley‐Liss, Inc.
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan‐like phenotypes
Authors: Chung Brian Hon‐Yin , Lam Stephen Tak‐Sum , Tong Tony Ming‐For , Li Susanna Yuk‐Han , Lun Kin‐Shing , Chan Daniel Hon‐Chuen , Fok Susanna Fung‐Shan , Or June Siu‐Fong , Smith David Keith , Yang Wanling , Lau Yu‐Lung 
Published: June 2009

AbstractMarfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel. In the remaining 41 probands, six were identified to have novel TGFBR2 mutations (one frameshift and five missense mutations). All novel mutations found in this study were confirmed to be absent in 50 unrelated normal individuals of the same ethnic background. In probands who fulfilled the Ghent criteria (n = 16), mutations in FBN1 were found in 81% of cases. None of those with TGFBR2 mutations fulfilled the Ghent criteria. Novel missense mutations of unknown significance were classified according to the latest ACMG guidelines and their likelihood to be causative was evaluated. © 2009 Wiley‐Liss, Inc.
Poland syndrome with bilateral features: Case description with review of the literature
Authors: Baban Anwar , Torre Michele , Bianca Sebastiano , Buluggiu Anna , Rossello Mario Igor , Calevo Maria Grazia , Valle Maura , Ravazzolo Roberto , Jasonni Vincenzo , Lerone Margherita 
Published: June 2009

AbstractPoland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3½‐year‐old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed. © 2009 Wiley‐Liss, Inc.
Qualitative descriptors of disease incidence: Commonly used and frequently muddled
Authors: Snowman Cari , Scheuerle Angela 
Published: June 2009

AbstractWords such as “frequent,” “common,” “uncommon,” and “rare” are used qualitatively to discuss disease incidence. They give a subjective assessment of disease frequency and are, thus, open to interpretation. A review of major journals in pediatrics and medical genetics was undertaken to determine whether these terms are applied with sufficient consistency within and/or between medical specialties to confer useful information. An article was included in the study if it used a keyword as a general descriptor (X is common), but not if it was used as a comparator (Y is the most common). Bibliographical information, the disease, the keyword, and the incidence of the disease were recorded for each article that met the search criteria. If the disease population incidence or prevalence was not mentioned in the article, another literature or database source was used to obtain that number. The results showed extreme inconsistency in the use of the terms and that the incidence ranges overlap significantly. There is disagreement about the meaning of the words both between specialties and within the same specialty. Editorial boards might consider setting parameters for use of these terms in order to decrease confusion about how “common” a condition actually is. © 2009 Wiley‐Liss, Inc.
Two cases of trisomy 16 mosaicism ascertained postnatally
Authors: Rieubland Claudine , Francis David , Houben Leonie , Corrie Sylvea , Bankier Agnes , White Susan M. 
Published: June 2009

AbstractPostnatally ascertained trisomy 16 mosaicism is a rare diagnosis, with only three reported cases to date with no defined clinical phenotype. Trisomy 16 mosaicism diagnosed prenatally is common and associated with variable pregnancy outcomes ranging from stillbirth with multiple congenital abnormalities to an apparently normal newborn, making the genetic counseling very challenging. It is not clear whether uniparental disomy (UPD) 16 contributes to the phenotype, although it has been suggested that maternal UPD 16 affects the rate of intra‐uterine growth retardation (IUGR) and congenital anomalies. We report on two further cases of trisomy 16 mosaicism confined to fibroblasts diagnosed postnatally. Patient 1 presented at birth with severe hypospadias, unilateral postaxial polydactyly, and different hair color with midline demarcation. His growth and development were normal at 11 months of age. Patient 2 was born with IUGR, significant craniofacial and body asymmetry, asymmetric skin hyperpigmentation, unilateral hearing loss, scoliosis, VSD, unexplained dilated cardiomyopathy, feeding difficulties, failure to thrive, and recurrent respiratory tract infections. She died at 7 months of age from respiratory failure. These two further cases of postnatally diagnosed trisomy 16 mosaicism highlight the variability of clinical features and outcome in this diagnosis. While Patient 2 presented with typical features of chromosomal mosaicism, Patient 1 had mild and transient features with essentially normal outcome, suggesting that trisomy 16 mosaicism may be under‐diagnosed. © 2009 Wiley‐Liss, Inc.
Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations
Authors: Ghosh Sujoy , Feingold Eleanor , Dey Subrata Kumar 
Published: June 2009

AbstractDown syndrome caused by meiotic nondisjunction of chromosome 21 in humans, is well known to be associated with advanced maternal age, but success in identifying and understanding other risk factors has been limited. Recently published work in a U.S. population suggested intriguing interactions between the maternal age effect and altered recombination patterns during meiosis, but some of the results were counter‐intuitive. We have tested these hypotheses in a population sample from India, and found that essentially all of the results of the U.S. study are replicated even in our ethnically very different population. We examined meiotic recombination patterns in a total of 138 families from the eastern part of India, each with a single free trisomy 21 child. We genotyped each family with a set of STR markers using PCR and characterized the stage of origin of nondisjunction and the recombination pattern of maternal chromosome 21 during oogenesis. Our sample contains 107 maternal meiosis I errors and 31 maternal meiosis II errors and we subsequently stratified them with respect to maternal age and the number of detectable crossover events. We observed an association between meiosis I nondisjuncion and recombination in the telomeric 5.1 Mb of chromosome 21. By contrast, in meiosis II cases we observed preferential pericentromeric exchanges covering the proximal 5.7 Mb region, with interaction between maternal age and the location of the crossover. Overall reduction of recombination irrespective of maternal age is also evident in meiosis I cases. Our findings are very consistent with previously reported data in a U.S. population and our results are the first independent confirmation of those previous reports. This not only provides much needed confirmation of previous results, but it suggests that the genetic etiology underlying the occurrence of trisomy 21 may be similar across human populations. © 2009 Wiley‐Liss, Inc.
Congenital bilateral amazia associated with bilateral choanal atresia
Authors: Papadimitriou Anastasios , Karapanou Olga , Papadopoulou Anna , Nicolaidou Polyxeni , Fretzayas Andreas 
Published: June 2009

AbstractCongenital absence of breast development is a very rare abnormality. It may present as an isolated finding or it may be accompanied by other congenital anomalies. Here we report on a 13.5‐year‐old girl presented to our pediatric endocrinology clinic because of lack of breast development. She had pubarche since the age of 10 years and was regularly menstruating since the age of 12 years. The patient's medical history was positive for bilateral complete choanal atresia that was diagnosed and corrected soon after birth. Physical examination was unremarkable except for bilateral amazia, that is, absence of palpable breast tissue and hypoplastic areolae, whereas both nipples were formed. Renal ultrasonography and chest radiography were normal. The coexistence of congenital bilateral amazia and bilateral complete choanal atresia suggests that these rare disorders may be related etiologically. The patient is scheduled for breast augmentation. © 2009 Wiley‐Liss, Inc.
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia
Authors: Bernardi Pricila , Graziadio Carla , Rosa Rafael F.M. , Dall'Agnol Lisiane , Zen Paulo R.G. , Paskulin Giorgio A. 
Published: June 2009

AbstractBrachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition. © 2009 Wiley‐Liss, Inc.