bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neandertal cold adaptation: Physiological and energetic factors
Authors: Steegmann A. Theodore , Cerny Frank J. , Holliday Trenton W. 
Published: September 2002

AbstractEuropean Neandertals employed a complex set of physiological cold defenses, homologous to those seen in contemporary humans and nonhuman primates. While Neandertal morphological patterns, such as foreshortened extremities and low relative surface‐area, may have explained some of the variance in cold resistance, it is suggested the adaptive package was strongly dependent on a rich array of physiological defenses. A summary of the environmental cold conditions in which the Neandertals lived is presented, and a comparative ethnographic model from Tierra del Fuego is used. Muscle and subcutaneous fat are excellent “passive” insulators. Neandertals were quite muscular, but it is unlikely that they could maintain enough superficial body fat to offer much cold protection. A major, high‐energy metabolic adaptation facilitated by modest amounts of highly thermogenic brown adipose tissue (BAT) is proposed. In addition, Neandertals would have been protected by general mammalian cold defenses based on systemic vasoconstriction and intensified by acclimatization, aerobic fitness, and localized cold‐induced vasodilation. However, these defenses are energetically expensive. Based on contemporary data from circumpolar peoples, it is estimated that Neandertals required 3,360 to 4,480 kcal per day to support strenuous winter foraging and cold resistance costs. Several specific genetic cold adaptations are also proposed—heat shock protein (actually, stress shock protein), an ACP*1 locus somatic growth factor, and a specialized calcium metabolism not as yet understood. Am. J. Hum. Biol. 14:566–583, 2002. © 2002 Wiley‐Liss, Inc.
Nutritional status of children from Papua New Guinea: Associations with socioeconomic factors
Authors: King Sarah E. , Nicholas Mascie‐Taylor C.G. 
Published: September 2002

AbstractGrowth faltering has been well documented in children from Papua New Guinea, although there is evidence that broad processes of modernization, such as cash cropping, have resulted in increased body size. It is not clear, however, what household socioeconomic factors may be associated with larger body size in populations undergoing early stages of modernization. This cross‐sectional study examined the nutritional status of children between birth and 5 years of age living near Kanabea, Papua New Guinea, a relatively remote outpost in the highland fringe experiencing a limited cash economy. Weight and height were measured on 260 children from 190 households. The mean z‐scores of −2.26 ± 1.50 (SD) for height‐for‐age, −2.43 ± 1.25 for weight‐for‐age, and −1.34 ± 1.49 for weight‐for‐height are suggestive of both acute and chronic malnutrition. Using a cut‐off value of ≤ −2SD, 68.8% of the children were stunted and/or wasted. These values are similar to those from a 1992–93 survey in the district, revealing that malnutrition remains a problem in the area. In this largely traditional horticultural group, educated mothers and mothers who spoke pidgin and/or English in addition to the local language had children with better z‐scores. Am. J. Hum. Biol. 14:659–668, 2002. © 2002 Wiley‐Liss, Inc.
Secular trend in the development of fatness during childhood and adolescence
Authors: Thompson Angela M. , Baxter‐Jones Adam D.G. , Mirwald Robert L. , Bailey Donald A. 
Published: September 2002

AbstractThis study examined the development of fatness, as indexed by skinfold thickness, in healthy Caucasian children and adolescents residing in the same location in Canada in the 1960s and the 1990s. The data comes from two longitudinal studies, conducted approximately 30 years apart, of children aged 8–16 years. The first study (1964–1973) annually measured 207 males and 140 females. The second investigation (1991–1997) repeatedly measured 113 males and 115 females. Identical measurement tools and protocols were used for height, body mass, and skinfolds. Maturational age was estimated as a measure in years from age of peak height velocity. Males from the second investigation matured significantly (P < 0.05) earlier. Multilevel regression modeling was utilized to determine developmental curves for the individuals within the two populations. When differences in height, body mass, and maturity were controlled, skinfold thicknesses of the males and females in the second study were significantly greater (P < 0.05) than age‐ and sex‐matched peers in the first study. This was not seen in models of the BMI. The results suggest that when maturity and size were controlled, the fatness of children and adolescents increased over 30 years. Am. J. Hum. Biol. 14:669–679, 2002. © 2002 Wiley‐Liss, Inc.
Changing family structure in a modernizing society: A study of marriage patterns in a single Muslim village in Israel
Authors: Zlotogora J. , Habiballa H. , Odatalla A. , Barges S. 
Published: September 2002

AbstractAmong 1,875 couples from one Muslim village, 374 (20%) marriages were between first cousins. Among women born after 1920, the highest rates of first‐cousin marriages were observed among those born between 1940–1959 (26%) and this pattern declined in the last two decades. The majority of first‐cousin marriages were between offspring of brothers. Analyzed by 20‐year periods, the pattern of first‐cousin marriages changed as the proportion of marriages between brothers' children decreased from 75% to 44%. Over the study period, more than 70% of marriages were between individuals born in the village and related to some degree. Examination of the marriages in which both spouses were born in the village demonstrated a preference to marry within the extended family; 68% of the women married a man with the same family name. Since the creation of the Israeli State, there have been significant changes among Israeli‐Arab citizens. However, these data demonstrate that the tradition of marrying a relative remains central, although some changes in marriage preference have occurred. Am. J. Hum. Biol. 14:680–682, 2002. © 2002 Wiley‐Liss, Inc.
HFE based re‐evaluation of heterozygous hemochromatosis
Authors: Moirand Romain , Guyader Dominique , Mendler Michel Henry , Jouanolle Anne Marie , Le Gall Jean Yves , David Véronique , Brissot Pierre , Deugnier Yves 
Published: September 2002

AbstractHomozygosity for the C282Y mutation in the HFE gene is strongly associated with hereditary hemochromatosis. More than one subject out of 10 in the general population is a heterozygote for the C282Y mutation. In this study, we address whether or not conclusions drawn from HLA‐based family studies regarding the expression of heterozygous hemochromatosis are applicable to C282Y heterozygotes. The correlation between HLA‐inferred and HFE genotypes and the variation of serum iron tests according to HFE genotype and other factors were studied in persons from well‐characterized hemochromatosis pedigrees. Subjects were tested for both C282Y and H63D mutations. The following factors were studied: age, sex, alcohol consumption, body mass index, liver function tests, serum lipids and glucose, serum iron, transferrin saturation, and ferritin. HLA‐inferred heterozygotes were C282Y heterozygotes in only 70% and compound heterozygotes (i.e., heterozygotes for both C282Y and H63D) in 20%. C282Y heterozygotes did not differ from wild type homozygotes in terms of serum iron tests. Only compound heterozygotes presented with slightly increased transferrin saturation. On the other hand, increased serum ferritin was strongly associated with overweight or lipidic or glucose abnormalities. C282Y heterozygotes selected from family studies do not have greater serum iron tests than wild type homozygotes, except for compound heterozygotes, and therefore should not require special followup. The discovery of abnormal iron tests in a C282Y heterozygote should lead to workup for other causes of iron overload. © 2002 Wiley‐Liss, Inc.
Diagnostic dilemmas in the short rib–polydactyly syndrome group
Authors: Elçioglu Nursel H. , Hall Christine M. 
Published: September 2002

AbstractThe short rib–polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs. At least four types have been recognized. The radiological findings of 10 cases are presented. Each fetus or stillbirth has some of the radiological features of the four established types of short rib–polydactyly syndrome and raises diagnostic dilemmas in differentiating these entities. The overlapping phenotypes of these fetuses supports the previously suggested hypothesis that the different subtypes of the short rib–polydactyly syndrome group are not single entities, but rather part of a continuous spectrum with variable expressivity. © 2002 Wiley‐Liss, Inc.
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
Authors: Berend Sue Ann , Bejjani Bassem A. , McCaskill Christopher , Shaffer Lisa G. 
Published: September 2002

AbstractCarriers of either homologous or non‐homologous acrocentric rearrangements are at an increased risk for aneuploidy, and, thus, for uniparental disomy (UPD). Abnormal phenotypes due to genomic imprinting are associated with UPD for the acrocentric chromosomes 14 and 15. The purpose of this study was to determine the prevalence of UPD in a population with acrocentric rearrangements (either an isochromosome or a Robertsonian translocation) and abnormal phenotypes. Fifty individuals were studied. Of the 50 rearrangements, two were homologous rearrangements and both showed UPD. Forty‐eight were non‐homologous Robertsonian translocations, of which two showed UPD. This study demonstrates that UPD explains the abnormal phenotypes in some balanced carriers of acrocentric rearrangements. Our results and the large number of case reports in the literature suggest that patients with abnormal phenotypes and acrocentric rearrangements of chromosomes 14 or 15 should be tested for UPD. © 2002 Wiley‐Liss, Inc.
Review and meta‐analysis of systematic searches for uniparental disomy (UPD) other than UPD 15
Authors: Kotzot Dieter 
Published: September 2002

AbstractAll systematic searches for uniparental disomy (UPD) so far published and comprising clinically defined populations (Silver‐Russell syndrome/primordial growth retardation (SRS/PGR) (n = 14), multiple malformations (n = 2), or rare syndromes (n = 12)) or situations at risk (confined placental mosaicism (CPM) (n = 13), spontaneous abortions (n = 6), additional marker chromosomes (n = 15), balanced non‐Robertsonian translocations (n = 3), or balanced Robertsonian translocations (n = 15)) were reviewed. In many studies clinical and/or cytogenetic information on fluorescent in situ hybridization (FISH) results was very scarce. Meta‐analysis concerning an adequate number of cases was possible for SRS/PGR, CPM, additional marker chromosomes, and balanced Robertsonian translocations only. As expected, the highest risk for UPD was found in cases with translocations between homologous acrocentric chromosomes (11 cases with UPD of 15 investigated) and in CPM due to a meiotic error (25 of 51 cases).In prenatal investigations or in cases with a normal phenotype, translocations between nonhomologous acrocentric chromosomes implied a risk for UPD of less than 0.5%. The risks for maternal UPD 7 in cases with SRS/PGR, for UPD 15 in cases with an additional inv dup(15) marker chromosome, and for UPD of any chromosome in cases with multiple malformation/mental retardation were approximately 5.5%, and approximately 1.3%, respectively. Searches for UPD in well‐defined syndromes (Brachmann‐De Lange syndrome, Sotos syndrome, Rett syndrome, Weaver syndrome, or XX true hermaphroditism) were disappointing. Not a single case was found. © 2002 Wiley‐Liss, Inc.
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver‐Russell patient
Authors: Dupont Jean‐Michel , Cuisset Laurence , Cartigny Maryse , Le Tessier Dominique , Vasseur Christian , Rabineau Didier , Jeanpierre Marc 
Published: September 2002

AbstractWe present the case of a maternal heterodisomy for chromosome 7 in the daughter of a t(7;16)(q21;q24) reciprocal translocation carrier. The proband was referred to the hospital for growth retardation and minor facial dysmorphism without mental retardation. A diagnosis of Silver‐Russell syndrome was suspected. Chromosomal analysis documented a 46,XX,t(7;16)(q21;q24)mat chromosome pattern. Microsatellite analysis showed a normal biparental inheritance of chromosome 16 but a maternal heterodisomy of chromosome 7. Occurrence of uniparental disomy (UPD) is a well‐recognized consequence of chromosomal abnormalities that increase the rate of meiotic nondisjunction, mainly Robertsonian translocations and supernumerary chromosomes. Although reciprocal translocations should, theoretically, be also at increased risk of UPD, only three cases have been reported so far. However, because the association between uniparental disomy and reciprocal translocation may exist with an underestimated frequency, prenatal diagnosis is recommended when clinically relevant chromosomes for UPD are involved. © 2002 Wiley‐Liss, Inc.
Coffin‐Lowry syndrome: A 20‐year follow‐up and review of long‐term outcomes
Authors: Hunter Alasdair G.W. 
Published: September 2002

AbstractThe Coffin‐Lowry syndrome has become well established since the first report of affected patients by Coffin et al. [1966: Am J Dis Child 112:205–213]. Since that time over a hundred cases have been reported and the responsible gene has been identified. However, there remains a paucity of long‐term follow‐up information on older patients with which to counsel affected families about prognosis. There is also much to be learned about genotype‐phenotype correlations. In 1982 we reported 12 patients (including carrier mothers) from eight families, one of whom had died about the time the paper was written. Recently, we have been able to obtain follow‐up information on six of the affected patients and one of the carrier mothers. A number of important complications have occurred, including premature death, loss of ambulation, and quadriplegia. This paper updates the medical histories of our patients and summarizes the clinically important complications that have been reported in patients with Coffin‐Lowry syndrome. There are few data on patients over the age of 30, and much more longer term follow‐up is required. © 2002 Wiley‐Liss, Inc.
Early detection of severe cholestatic hepatopathy in COACH syndrome
Authors: Foell Dirk , August Christian , Frosch Michael , Harms Erik , Zimmer Klaus‐Peter 
Published: September 2002

AbstractCOACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Sixteen cases with certain COACH diagnosis have been reported so far. Neurologic abnormalities are the first symptoms in most cases. The majority of cases were diagnosed late in childhood or adolescence. Complications of the hepatopathy contribute extensively to the morbidity and lethality in the course of the disease. Major complications are portal hypertension, esophageal varices, and gastrointestinal bleeding. We report of a child with only mild neurologic symptoms, but severe hepatic fibrosis with cholangiopathy, and review the literature. This is the first description of profound cholestatic hepatopathy in a very young child with COACH syndrome. The patient was found to have cerebellar vermis hypoplasia, unilateral optical nerve coloboma, mild dysmorphic signs, and a ventricular septum defect. Routine laboratory investigations eventually revealed elevated liver enzymes. Prothrombin time was abnormal. Ultrasound scan of the liver was normal. Hepatotropic viral infections were excluded. We performed a liver biopsy at the age of 16 months, confirming an early stage of cirrhosis with septal fibrosis and pseudolobules, inflammatory infiltrates, signs of cholestasis, and reduced numbers of intrahepatic bile ducts. Early detection and differentiation of liver pathology are important in COACH syndrome. Progressive destructive cholangiopathy may contribute to hepatic fibrosis in COACH syndrome. Liver disease can be severe even in cases with mild neurologic deficits. © 2002 Wiley‐Liss, Inc.
Behavioral phenotypes in four mental retardation syndromes: Fetal alcohol syndrome, Prader‐Willi syndrome, fragile X syndrome, and tuberosis sclerosis
Authors: Steinhausen Hans‐Christoph , von Gontard Alexander , Spohr Hans‐Ludwig , Hauffa Berthold P. , Eiholzer Urs , Backes Margitta , Willms Judith , Malin Zeno 
Published: September 2002

AbstractBehavioral phenotypes were studied in four mental retardation syndromes using the Developmental Behavior Checklist (DBC). The four samples comprised fetal alcohol syndrome (FAS), Prader‐Willi syndrome (PWS), fragile X syndrome (FRAX), and tuberosis sclerosis (TSC). Both on the item and the subscale level, there were clear behavioral differentiations across the four syndromes. FAS and FRAX proved to be most clearly differentiated from the other two samples, with PWS and TSC showing lower scores and less abnormal behavior profiles. Neither intelligence nor gender nor age contributed to variations in the number of behavior abnormalities. It was concluded that the DBC as a quantitative approach contributes significantly to the differentiation of behavioral phenotypes in various mental retardation syndromes. © 2002 Wiley‐Liss, Inc.
Sequential culture medium promotes the in vitro development of Macaca fascicularis embryos to blastocysts
Authors: Curnow E.C. , Pawitri D. , Hayes E.S. 
Published: September 2002

AbstractIn vitro production of blastocyst stage embryos from Macaca fascicularis (Mf) has not previously been demonstrated without cell support. Historical data indicates that a large proportion of Mf embryos arrest at the morula stage in nonsequential culture medium (NSM) lacking serum supplementation and/or cell support. Here we report the application of a sequential culture system supporting in vitro production of Mf blastocysts. Mf embryos produced by in vitro fertilization (IVF; n = 69) were subjected to in vitro culture without cell support in either a commercial sequential embryo culture medium (SM) or an NSM. At 24hr post‐insemination (PI) embryos generated from in vivo and in vitro matured oocytes and cultured in the NSM cleaved to two or more cells in significantly greater proportions (15/23; 65%) compared to embryos cultured in SM (14/46; 30%). However, by day 3 PI embryo development beyond eight cells was not different in NSM (9/23; 39%) compared to SM (25/46; 54%). At day 5 PI embryo development to the morula stage was slightly lower in NSM (8/23, 35%) compared to SM (21/46, 45%), and embryo degeneration was slightly higher in NSM (9/23, 39%) compared to SM (9/46, 20%). After 7–9 days of in vitro culture, embryo development to the blastocyst stage and embryo degeneration were significantly lower and higher, respectively, in NSM (0/23, 0%; and 23/23, 100%) compared to SM (9/46, 20%; and 26/46, 56%). In this study the sequential culture system was better able to support in vitro development of Mf embryos compared to nonsequential culture systems. Am. J. Primatol. 57:203–212, 2002. © 2002 Wiley‐Liss, Inc.
Response patterns of bonnet macaques following up to 75 weeks of continuous access to social‐video and food rewards
Authors: Andrews Michael W. , Rosenblum Leonard A. 
Published: September 2002

AbstractThree individually housed bonnet macaque males were given 75 weeks of continuous access to a joystick task with a reward choice of either viewing live color video of a bonnet group or obtaining a banana‐flavored food treat. Here we report data for weeks 44–75 following a change in the stimulus group displayed in the video. The new stimulus group enhanced responding to the video for two subjects over the entire 32 weeks of this study, although there was some decline across weeks, and the video continued to be an effective reward for the duration of the study for all subjects. Am. J. Primatol. 57:213–218, 2002. © 2002 Wiley‐Liss, Inc.
Disappearances of individuals from social groups have implications for understanding natal dispersal in monogamous owl monkeys (Aotus azarai)
Authors: fernandez‐Duque Eduardo , Huntington Caleb 
Published: September 2002

AbstractThe socially monogamous owl monkeys (Aotus spp.) live in small groups of two to five individuals. We used monthly demographic data collected from 16 social groups between 1997–2001 to estimate the age of disappearance from their natal groups and the timing of those disappearances in a population of owl monkeys (Aotus azarai azarai) in Formosa, Argentina. We applied survival analysis techniques to 48 months of observations of 47 individuals to construct age‐specific probabilities of disappearance. Two‐thirds of the individuals (eight of 12), for which disappearance could be well timed, disappeared at around 2 years of age. The average age at disappearance for these individuals was 29 months (±8), whereas the mean age of disappearance obtained from the survival analysis of censored and uncensored data was almost 3 years (mean±SD, 35±3 months). Ninety‐two percent of all disappearances of adult size individuals (11 of 12) occurred around the birth season. Our data suggest that at least some individuals disperse soon after sexual maturation while others remain for up to 4 years in their natal groups. Am. J. Primatol. 57:219–225, 2002. © 2002 Wiley‐Liss, Inc.
Social system of the Alaotran gentle lemur (Hapalemur griseus alaotrensis): genetic characterization of group composition and mating system
Authors: Nievergelt Caroline M. , Mutschler Thomas , Feistner Anna T.C. , Woodruff David S. 
Published: September 2002

AbstractGroup composition and mating system were investigated in wild Alaotran gentle lemurs (Hapalemur griseus alaotrensis) using genetic markers. These small‐bodied herbivorous and cathemeral primates are endemic to the reed and papyrus beds around Lac Alaotra in Madagascar. They live in small groups in small, defended territories. Data were collected during the rainy seasons in 1996, 1997, and 1999, and include 99 individuals from 22 neighboring social groups and an additional 30 animals from other areas representing most of the geographic range. Animals were located by researchers canoeing in the marshes bordering the lake. After a group's size was determined by direct observation, all individuals were captured, marked, and released. During handling each individual was weighed and sexed, and hair samples for DNA extraction were collected. A 342 bp mtDNA control region sequence and 10 nuclear microsatellite loci provided multilocus genotypes that were used to assess pedigree relations and population structure. Alaotran gentle lemurs were found in groups of two to nine individuals (mean: 4.3), comprising one or two breeding females, their offspring, and one reproducing male. Solitary individuals of both sexes were encountered rarely. Breeding females were the permanent core of the social groups, whereas intergroup transfer of reproductive males was relatively frequent. Forty percent of all reproducing groups contained two breeding females, which were related to each other as closely as mother–daughter or full sisters. Parentage assessment revealed a variable mating system ranging from serial monogamy to polygyny within social groups. At least 8% of paternities involved extragroup males. Additional data on life history and reproduction are presented, and the social system of the Alaotran gentle lemur is discussed in the light of the new genetic findings. Am. J. Primatol. 57: 157–176, 2002. © 2002 Wiley‐Liss, Inc.