bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inbreeding coefficients and degree of consanguineous marriages in Spain: A review
Authors: Fuster Vicente , Colantonio Sonia Edith 
Published: September 2003

AbstractThe contribution of consanguineous marriages corresponding to uncle–niece or aunt–nephew (C12), first cousin (C22), first cousin once removed (C23), and second cousin (C33) to the inbreeding coefficient (α) was analyzed from a sample of Spanish areas and periods. Multiple regressions were performed taking as independent variables the different degrees of consanguinity previously selected (C12, C22, C23, and C33) and as dependent variable the inbreeding coefficient (α). According to the results obtained for any degree and period, rural frequencies always surpass urban. However, the pattern is similar in both areas. In the period where consanguinity was more elevated (1890–1929) the C22/C33 ratio increased. Its variation is not due to C22 and C33 changes in the same way. In rural areas, this ratio surpasses the expected value by a factor of 2–3, but in urban areas it was 7–10 times larger, in some cases due to migration. While in rural Spain the C33 frequency was ∼1.5 times C22, in cities C22 was 1.5 times C33. The best fit among the various types of consanguineous matings and α involves a lineal relationship. Regardless of the number of variables contributing significantly to α, C22 matings are always present. Moreover, their standardized (β) coefficients are the highest. The above indicates that this consanguineous relationship conditions the inbreeding coefficient the most. In the period of greater consanguinity, close relationships, uncle–niece C12, and first cousin once removed (C23) make a significant contribution to α. In rural Spain second cousins (C33) always significantly determined α; however, in cities the inbreeding variation was mainly due to C12 and C23. Am. J. Hum. Biol. 15:709–716, 2003. © 2003 Wiley‐Liss, Inc.
Effects of oral zinc supplementation on serum leptin levels in Ache males of eastern Paraguay
Authors: BRIBIESCAS RICHARD G. 
Published: September 2003

AbstractSignificant population variation has been demonstrated in serum leptin levels, independent of adiposity. Included within these populations, Ache males have significantly lower leptin levels compared to American subjects with comparable adiposity. The underlying causes of these differences are not understood but zinc has been shown to be an important regulator of leptin in humans and rodents. Zinc deficiency is associated with somatic wasting and significant declines in circulating leptin levels. Zinc deficiency is common in underdeveloped regions and may therefore contribute to low leptin levels among Ache men. To ascertain the potential role of zinc on Ache male leptin profiles, zinc supplementation was conducted to observe leptin responsiveness. Ache males were given daily oral zinc supplementation (50mg zinc gluconate) (n = 8) or placebo (n = 6) for 10 days. Serum leptin levels were measured on the first and last days of the treatment/placebo period. Despite supplementation exceeding triple the USDA recommended daily requirements, serum leptin levels did not change in the zinc‐supplemented group (P = 0.61) and were not significantly different from males receiving placebo (P = 0.72). It is concluded that zinc is not likely to be a contributing factor in male Ache leptin profiles and that other sources of variation such as chronic energetic stresses affecting leptin production and perhaps receptor number or sensitivity should be considered. Am. J. Hum. Biol. 15:681–687, 2003. © 2003 Wiley‐Liss, Inc.
Atherogenic lipid profiles in Filipino adolescents with low body mass index and low dietary fat intake
Authors: Kuzawa Christopher W. , Adair Linda S. , Avila Joesphine L. , Cadungog Joseph H.C. , Le Ngoc‐anh 
Published: September 2003

AbstractThis study reports mean lipid levels and their association with body composition, diet, and activity level in 300 male and 308 female adolescents (14–16 years) living in Cebu City, the Philippines. Participants were selected from the Cebu Longitudinal Health and Nutrition Survey (CLHNS), a 1‐year birth cohort study begun in 1982–83. Lipid profiles suggest high cardiovascular disease (CVD) risk in this sample, despite low intake of dietary fat (22% for both sexes) and an absence of obesity (0.3% of sample). Mean lipid levels for males and females were, respectively, 153.2 mg/dl and 182.5 mg/dl for total cholesterol (TC), 91.9 mg/dl and 104.6 mg/dl for low‐density lipoprotein cholesterol (LDL‐C), 38.3 mg/dl and 41.3 mg/dl for high‐density lipoprotein cholesterol (HDL‐C, geometric mean), and 73.9 mg/dl and 79.6 mg/dl for triglycerides (TG, geometric mean). The atherogenic ratio of TC/HDL‐C was high at 4.16 and 4.55 for males and females. Adjusting for maturational changes, the body mass index (BMI) and skinfold measures were positively associated with most lipids in males. Among females, BMI and skinfolds related positively to LDL‐C and TG, and inversely to HDL‐C. Although males had a higher waist hip ratio (WHR), WHR only predicted lipid profiles in females. Activity level had a beneficial association with lipid profiles in both sexes, while dietary fat intake was positively associated with LDL‐C in males and with HDL‐C in females. In sum, diet, adiposity, and physical activity predict variability in lipid profiles in this adolescent Filipino population. However, the low fat intake and near‐absence of obesity raise questions about the causes of the high apparent risk for future CVD in this young population. Am. J. Hum. Biol. 15:688–696, 2003. © 2003 Wiley‐Liss, Inc.
Effects of developmental and adult androgens on male abdominal adiposity
Authors: McIntyre Matthew H. , Lipson Susan F. , Ellison Peter T. 
Published: September 2003

AbstractWe present results from 42 gay men who completed a survey including self‐measurement of waist circumference, height, and weight, in addition to providing saliva samples for the assay of testosterone, and a photocopy of the right hand for the measure of second‐to‐fourth digit length ratio (2D:4D), proposed as a means of approximating androgenic effects during development. The analyses were conducted as a test of the recent hypothesis, proposed by Abbott et al. ([2002] J Endocrinol 174:1–5), that high prenatal androgen exposure causes greater deposition of fat on the abdomen relative to other depots. We found support for this hypothesis in men, albeit in a limited sample and with self‐reported and self‐collected data. Am. J. Hum. Biol. 15:662–666, 2003. © 2003 Wiley‐Liss, Inc.
Impact of breastfeeding on anthropometric changes in peri‐urban Toba women (Argentina)
Authors: Valeggia Claudia R. , Ellison Peter T. 
Published: September 2003

AbstractWe present an analysis of the effect of lactation on average maternal anthropometric and body composition measures in a population of Toba women in Formosa, Argentina. This indigenous population is undergoing a continuing transition from a seminomadic hunter–gatherer lifestyle to a sedentary, peri‐urban one. Using a mixed‐longitudinal design, we measured monthly maternal body mass index (BMI), body fat percentage, and triceps and subscapular skinfold thickness between birth and the 18th month postpartum in 113 breastfeeding women. The pattern of change in postpartum body composition varied with maternal age. Adult women (20 years old and older) did not show significant changes in any of the anthropometric measures during the entire study. Older adult women (30 years old and older) consistently had the highest values in measures of BMI and percentage fat, and tended to retain weight postpartum. Adolescent subjects (19 years old and younger) tended to lose weight during the first 6 months postpartum but regain their prepregnancy weight by 12 months postpartum. The same patterns were observed for changes in body fat percentage and in skinfold thickness. We conclude that in this population the energetic stress of lactation does not pose a serious challenge to the maintenance of long‐term maternal energy balance or to short‐term energy balance in women over 20 years of age. From a public health perspective, postpartum weight retention in older women may represent a more serious health threat. The low level of energetic stress associated with lactation may also contribute to the relatively short duration of lactational amenorrhea in this population despite a cultural pattern of intensive breastfeeding. Am. J. Hum. Biol. 15:717–724, 2003. © 2003 Wiley‐Liss, Inc.
Salivary testosterone and body composition among Ariaal males
Authors: Campbell Benjamin , O'Rourke Mary T. , Lipson Susan F. 
Published: September 2003

AbstractTo determine if testosterone is negatively related to acute and/or chronic nutritional status among men in a subsistence society, saliva samples and anthropometric measures were compared among nomadic and settled Ariaal pastoralists of northern Kenya. Fifty‐six nomadic men and 62 settled men facing drought conditions, estimated ages 22–96 years, were sampled. Measures included height, weight, four skinfolds, and %body fat by bioelectric impedance (BIA). Saliva samples were assayed for testosterone using radioimmunoassay. Overall, both body mass index (BMI) (avg. = 17.8 ± 6.0 kg/m2) and salivary testosterone (T) levels (avg. am value = 176.8 ± 74.8 pmol/l) were low compared to values from Western populations. Comparison of the two subpopulations revealed no significant difference in height, weight, BMI, or lean body mass. However, nomadic males exhibited significantly smaller skinfolds. Evening, but not morning, salivary T values differed between the subpopulations. Age‐related changes in body composition included a significant decline in BMI with age, related to loss of body fat, but with little change in lean body mass. Age‐related declines in BMI and %body fat were more pronounced among the nomadic males. am salivary T values declined with age; again, the decline was significantly greater among nomadic males. pm salivary T levels showed no significant decline with age. When controlled for residence and age, salivary T was positively related to %body fat and WHR ratio, but not lean body mass. These results provide evidence that salivary T is related to acute nutritional status among males in an energetically stressed subsistence population, in accordance with life history theories of somatic allocation. Am. J. Hum. Biol. 15:697–708, 2003. © 2003 Wiley‐Liss, Inc.
Timing is everything: A reconsideration of fetal growth velocity patterns identifies the importance of individual and sex differences
Authors: Lampl Michelle , Jeanty Philippe 
Published: September 2003

AbstractFetal growth has been posited to follow a “timing hypothesis” sequence in which the second trimester favors a single growth velocity peak in body length and the third trimester accommodates a single growth velocity peak in weight accrual. To our knowledge, this proposition has never been tested with high‐frequency longitudinal ultrasound data from normally growing human fetuses. The present study examined whether fetal growth in leg length had its peak velocity at or about 20–26 gestational weeks and declined subsequently and whether estimated fetal weight velocity was maximal at or about 33 weeks and declined subsequently; if the greatest acquisition of leg length occurred in the second trimester and weight in the third trimester; and if birth outcomes reflected these relationships. The data in this study included approximately weekly longitudinal ultrasound data collected from 44 maternal/fetal pairs in Brussels, Belgium. Diaphyseal lengths of the femur and tibia provided information on leg growth and estimated fetal weight was assessed from the biparietal and occipital‐frontal head diameters and transverse and anterior–posterior diameters of the abdomen. Growth patterns were investigated from individual growth curves derived from daily growth velocity z‐scores. Paired t‐tests compared individuals' trimestral increments in leg length and fetal weight. Least‐squares regression models employing the robust procedure for repeated measurements were used to test for relationships between trimester, size, growth rates, and birth outcome, controlling for day of measurement, sex, maternal smoking, and gestational age at birth. The normal fetuses in this study grew by pulsatile patterns of leg and estimated weight acquisition, not a single peak and decline process. Greater incremental growth in estimated fetal weight occurred during the second trimester and leg length in the third trimester. Individual and sex effects were significant in growth velocity patterns. Girls grew with greater synchrony between leg and weight growth and were accelerated by comparison with boys, with faster leg growth predicting lower ponderal index by the second trimester. Birth outcomes were sex‐specific in timing effects and predictive variables. These results support the importance of sex‐specific analyses, reemphasize the common notion that girls grow faster than boys, and direct attention to cross‐talk between energy resources and growth. Am. J. Hum. Biol. 15:667–680, 2003. © 2003 Wiley‐Liss, Inc.
Laryngeal malformation in the Richieri‐Costa‐Pereira acrofacial dysostosis: Description of two new patients
Authors: Tabith Alfredo , Guedes de Azevedo Bento‐Gonçalves Cristina 
Published: September 2003

AbstractWe describe laryngeal malformations and voice disorders in two new patients with the autosomal recessive Richieri‐Costa and Pereira form of acrofacial dysostosis. This report confirms the data on the first five patients we had already presented in 1996. © 2003 Wiley‐Liss, Inc.
Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis
Authors: Molinari N. , Paut I. Koné , Manna R. , Demaille J. , Daures J.P. , Touitou I. 
Published: September 2003

AbstractWe have conducted a segregation analysis in order to characterise the transmission of Behçet Disease (BD), a multifactorial condition with a strong genetic component. Complete information about BD status and pedigree was obtained on 104 probands from our database. We used the criteria of the International Study Group for BD (ISBD) to delineate the clinical status of the sibs: possible BD (patients meeting two criteria), or ascertained BD (patients meeting at least three criteria). A proband was defined as “paediatric” when he/she completed ISBD criteria before/by the age of 16 years. Families were distinguished as paediatric (n = 67) (ascertained through a paediatric proband), and non‐paediatric (n = 37) ones. An Expectation Maximization (EM) algorithm was used to estimate the Mendelian segregation ratio P in nuclear families (two parents and their offspring). The maximum likelihood estimate: P̂ = 0.248, calculated in the paediatric data set, was consistent with the theoretical value of P = ¼ for autosomal recessive inheritance, whereas the P̂ value was 0.08 when using the non‐paediatric data set. Our work provides the first evidence of genetic heterogeneity in BD, and of the existence of a Mendelian entity in the paediatric BD subgroup. Previous studies failed to show any simple mode of inheritance in BD, probably because they were performed on the whole BD population. © 2003 Wiley‐Liss, Inc.
Fragile‐X syndrome and skewed X‐chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome
Authors: Heine‐Suñer D. , Torres‐Juan L. , Morlà M. , Busquets X. , Barceló F. , Picó G. , Bonilla L. , Govea N. , Bernués M. , Rosell J. 
Published: September 2003

AbstractFragile X syndrome is the most common form of inherited mental retardation. It is caused by the increase in length of a stretch of CGG triplet repeats within the FMR1 gene. A full mutation (> 200 repeats) leads to methylation of the CpG island and silencing of the FMR1 gene. We present here two sisters that are compound heterozygotes for a full mutation and a 53 repeat intermediate allele, one of them showing mental retardation and clinical features of an affected male (speech delay, hyperactivity, large ears, prominent jaw, gaze aversion), while the other is borderline normal (mild delay). Southern blot and FMRP expression analysis showed that the sister with mental retardation had the normal FMR1 gene totally methylated and no detectable protein, while her sister had 70% of her cells with the normal FMR1 gene unmethylated and normal FMRP levels. We found that the observed phenotypic differences between both sisters who are cytogenetically normal, are caused by extreme skewed X‐chromosome inactivation. Analysis of the extended family showed that most of the other female family members that carry a pre‐mutation or a full mutation showed some degree of skewing in their X‐chromosome inactivation. The presence of several family members with skewed X inactivation and the direction and degree of skewing is inconsistent with a mere selection during development, and suggests a genetic origin for this phenomenon. © 2003 Wiley‐Liss, Inc.
Multiple supernumerary ring chromosomes of different origin in a patient: A clinical report and review of the literature
Authors: Beverstock Geoff C. , Bezrookove Vladimir , Mollevanger Paul , van de Kamp Jacques J.P. , Pearson Peter , Kouwenberg Jan M. , Rosenberg Carla 
Published: September 2003

AbstractWe describe a patient with multiple congenital abnormalities exhibiting 2–5 supernumerary chromosomes per cells. A variety of FISH techniques were used to demonstrate that the markers are probably rings, lack detectable telomere sequences, and originate from different non‐acrocentric chromosomes, namely 6, 7, 10, 12, and 19. Such cases are extremely rare and this is only the 8th published report of an individual presenting three or more supernumerary chromosomes. We reviewed all available cases of multiple supernumerary chromosomes and the collective data indicate that multiple markers seem always to be rings of different origin. These results provide evidence that such multiple ring markers cannot possibly represent duplication or recurrence of an original structural rearrangement but must be derived with a common causality from different chromosomes. Possible mechanisms for the simultaneous production of multiple rings from different chromosomes are proposed, including the breakdown and rearrangement of a haploid complement shortly after fertilization in a triploid zygote. © 2003 Wiley‐Liss, Inc.
Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature
Authors: Hill Victoria , Sahhar Margaret , Aitken MaryAnne , Savarirayan Ravi , Metcalfe Sylvia 
Published: September 2003

AbstractMany studies have shown that, for families who are given the diagnosis of a disability, satisfaction with disclosure is an important element. Information given and the attitudes of the disclosing health professionals during this critical period have a significant effect on the coping and adaptation of the family. While most studies dealt with conditions involving intellectual disability or cancer, this study was conducted to explore parents' experience of being told that their child had a condition, such as a bone dysplasia, that would result in significant short stature. Semistructured interviews were conducted with 11 families who had children diagnosed with a bone dysplasia, specifically, achondroplasia (n = 9) and pseudoachondroplasia (n = 2). Families were recruited through the Bone Dysplasia Clinic at the Royal Children's Hospital, Victoria, Australia and via contact with the Short Statured People's Association of Victoria. Parents were asked about how they were told of their child's diagnosis, how they would have preferred to have been told, and what would have made the experience less distressing for them. Transcripts of the interviews were analyzed, and major themes were identified relating to the parents' experiences. Our data suggest that the manner in which the diagnosis is conveyed to the parents plays a significant role in their adjustment and acceptance. Provision of written information relating to the condition, possible medical complications, positive outlook for their child's future, and how to find social services and supports were some of the most significant issues for the parents. The multidisciplinary approach of the Bone Dysplasia Clinic was important to parents in the continued management of the families. © 2003 Wiley‐Liss, Inc.
Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
Authors: King Allison , Listernick Robert , Charrow Joel , Piersall Linda , Gutmann David H. 
Published: September 2003

AbstractChildren with neurofibromatosis type 1 (NF1) may present with optic pathway gliomas (OPG) that can progress to visual loss or other neurologic symptoms. These tumors may become evident either as a result of patient signs or symptoms or as an incidental finding on “baseline” neuroimaging studies. In an attempt to determine if there were differences between symptomatic and asymptomatic children with OPG, a retrospective cohort study of ninety children with NF1 and OPG was performed using data from two large NF1 referral centers. Age at diagnosis, presenting symptoms, tumor location, associated features, and clinical response were assessed for children who were initially symptomatic from their OPG (n = 51) and compared to similar data of asymptomatic children whose tumors were incidentally discovered by MRI (n = 39). There were no differences in age at presentation, tumor location, NF1‐associated symptoms, or clinical response between the groups. Initially symptomatic children were much more likely to require treatment (OR: 14.8, 95% CI [1.9–116.7]) than those with incidentally discovered, asymptomatic OPG. Although 36% of OPG were diagnosed in children over the age of 6 years, none received prior neuroimaging and only two children had previously normal eye examinations, suggesting that the vast majority of OPG in this group were longstanding, undiagnosed tumors. Based on these findings, we do not advocate “baseline” MRI in children with NF1, but strongly recommend that all children of the age 10 years and younger with NF1 have complete annual ophthalmologic evaluations. © 2003 Wiley‐Liss, Inc.
Retinochoroidal atrophy in two adult patients with Angelman syndrome
Authors: Rufa A. , Dotti M.T. , Orrico A. , Battisti C. , Carletto F. , Federico A. 
Published: September 2003

AbstractWe describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11‐13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due to loss of function of one copy of P gene involved in maternal deletion. The loss of one copy of the same gene of paternal origin leads to a similar ocular phenotype as in Prader–Willi syndrome (PWS). However to our knowledge, RCA has never been described before in PWS, suggesting that other maternally expressed genes, particularly UBE3A, could be responsible for the retinal changes observed in the adult AS phenotype. Although, further investigations would be necessary to better understand the role of the UBE3A in the retina, the findings reported here should prompt a systematic ophthalmologic evaluation adult patients with AS in order to establish the real incidence of RCA and prevent further disability in these patients. © 2003 Wiley‐Liss, Inc.