bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of the effects of radiographic contrast media on dehydration and filterability of red blood cells from donors homozygous for hemoglobin A or hemoglobin S
Authors: Losco Patricia , Nash Gerard , Stone Phil , Ventre John 
Published: August 2002

AbstractIodinated radiographic contrast media have traditionally been contraindicated in patients with sickle cell disease because their high osmolality may induce osmotic shrinkage of red blood cells, impair blood flow through the microcirculation, and precipitate or exacerbate a sickle cell crisis. This study investigated that concept by comparing the hematological and rheological effects in vitro of four X‐ray contrast media of differing osmolalities: Visipaque (290 mOsm/kg), Hexabrix (600 mOsm/kg), Omnipaque (844 mOsm/kg), and RenoCal‐76 (1940 mOsm/kg). Blood was tested from 10 normal and 10 sickle cell donors at drug concentrations of 0, 1, 10, and 30% w/v in an attempt to approximate the relative concentrations of contrast medium to blood that might occur during the bolus‐injection and circulation‐diluted phases of drug administration. Parameters evaluated included hematology, red cell morphology, and red cell flow resistance through a micropore filter to approximate the microcirculatory effects. Significant hematological effects for both normal and sickle cell donors included a concentration dependent decrease in hematocrit and MCV, and increase in MCHC, all of which varied directly with the osmolality of the contrast media in the order of RenoCal‐76 > Omnipaque > Hexabrix > Visipaque. The contrast media had minor effects on red blood cell morphology except for RenoCal‐76, 10–30% in which marked echinocytosis was observed. There was no significant increase in the number of irreversibly sickled cells in donors with hemoglobin S. Filterability of red cell suspensions through capillary size pores was impaired in both normal and sickle cell samples in direct proportion to the osmolality of the contrast media, as listed above. Filterability effects were greater for sickle cells than for normal red cells. Visipaque, which was closest to isotonicity, had little effect on red cell volume and had no significant effect on filterability of normal or sickle cells. These results suggest that microcirculatory impairment following infusion of contrast media may occur in sickle patients because of the unusual rheological sensitivity of HbSS red cells, and may be avoided by choice of an isotonic medium. Am. J. Hematol. 68:149–158, 2001. © Wiley‐Liss, Inc.
Body size, composition, and blood pressure of high‐altitude Quechua from the Peruvian Central Andes (Huancavelica, 3,680 m)
Authors: Toselli Stefania , Tarazona‐Santos Eduardo , Pettener Davide 
Published: August 2002

AbstractAlthough much information is available about the effects of high altitude on physiological characteristics, less is know about its effect on body composition. In the present study, anthropometric and body composition variables were investigated in a sample of 77 adult Quechua males from the Peruvian Central Andes (Huancavelica, 3,680 m). The subjects are shorter in relation to body weight than other ethnic groups, whereas body proportions are macrocormic (indicating a long trunk relative to the lower extremities), with intermediate values of the acromial‐iliac index. All skinfold thicknesses are low (∼15th percentiles of NHANES reference values for the triceps and subscapular skinfolds), but tend to be higher than in the other Quechua populations. Similar results are obtained when percentage fat is estimated. Somatotypes are dominant in mesomorphy with very low ectomorphy. Comparison with a sample of high‐altitude Kirghiz (3,200 m), previously studied with the same methods, shows higher values in the Peruvian sample for all variables related to adiposity. The presence of low adiposity in the Quechua population could be associated with stresses of the high‐altitude environment. Mean values of blood pressure are very low and there is no correlation with age. Am. J. Hum. Biol. 13:539–547, 2001. © 2001 Wiley‐Liss, Inc.
Length of marriage and its effect on spousal concordance in kuwait
Authors: Al‐Kandari Yagoub , Crews Douglas E. , Poirier Frank E. 
Published: August 2002

AbstractIt was hypothesized that marriage duration affects physical and cultural homogamy and spousal concordance in Kuwaiti marriages. Westernization increased spousal correlations due to fewer arranged marriages and increased individual spousal choice. Spousal similarities for selected physical and cultural traits were also examined for couples married 15 years or less, 16 to 30 years, and 31 years and more. Consanguineous couples belong to the al‐Kandari, one of the largest and most important kindreds in Kuwait, who traditionally married kin and continue to do so. Six physical measurements and blood pressure were taken along with a sociocultural questionnaire to examine cultural preferences. In all, 242 couples (484 people) participated; 62 couples were in non‐consanguineous unions. It was hypotheised that in shorter‐duration unions spouses would be more alike for physical and cultural traits. For physical traits, results for stature, weight, the body mass index, and hip circumference are congruent with the hypothesis, whereas results for the triceps and subscapular skinfolds, waist circumference, and systolic and diastolic blood pressure are not. Overall, for some traits spouses are more alike than in previous generations, and specific aspects of similarity among long‐term spouses reflect historical and cultural phenomena. Am. J. Hum. Biol. 14:1–8, 2002. © 2002 Wiley‐Liss, Inc.
Creating safer and healthier workplaces: Role of organizational factors and job characteristics*
Authors: Shannon Harry S. , Robson Lynda S. , Sale Joanna E.M. 
Published: August 2002

AbstractBackgroundA comprehensive understanding of workplace organizational risk factors for illness and injury and interventions to alleviate these factors is important for workplace prevention efforts.MethodsWe summarize the evidence for the role of workplace organizational factors and work factors in occupational health and safety (OHS). To the extent possible, we concentrate on factors at the level of the workplace, rather than the level of the individual.ResultsThree types of outcomes are considered: injuries, ill‐health, and musculoskeletal problems; and we note the evidence for their relationship to work. We review workplace interventions intended to alleviate each type of outcome and note methodological limitations of previous research.ConclusionsDespite the methodological limitations, the balance of the literature supports the work‐relatedness of the three types of outcomes, although questions remain about exact mechanisms and the effectiveness of specific interventions. We discuss barriers to and incentives for creating safer and healthier workplaces. Am. J. Ind. Med. 40:319–334, 2001. © 2001 Wiley‐Liss, Inc.
Ablepharon‐macrostomia syndrome
Authors: Stevens Cathy A. , Sargent Larry A. 
Published: August 2002

AbstractWe report three new cases of ablepharon‐macrostomia syndrome (AMS) and give a 10‐year follow‐up on a newborn reported in an abstract. These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia. Many have persistent visual problems, often related to early corneal exposure. Hearing loss, poor hair growth, finger contractures, and growth retardation were also chronic problems. Developmental impairment was present in two‐thirds of patients but was usually mild. This report contributes to our knowledge regarding the natural history of AMS and includes the first report of an adult patient. It also adds further evidence that AMS is distinct from Barber‐Say syndrome, which has similar features. © 2001 Wiley‐Liss, Inc.
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine β‐synthase (CBS) deficiency
Authors: Yaghmai Reza , Kashani Amir H. , Geraghty Michael T. , Okoh Jay , Pomper Martin , Tangerman Albert , Wagner Conrad , Stabler Sally P. , Allen Robert H. , Mudd S. Harvey , Braverman Nancy 
Published: August 2002

AbstractCystathionine β‐synthase (CBS) deficiency, the most common form of homocystinuria, is an autosomal recessive inborn error of homocysteine metabolism. Treatment of B6‐nonresponsive patients centers on lowering homocysteine and its disulfide derivatives (tHcy) by adherence to a methionine‐restricted diet. However, lifelong dietary control is difficult. Betaine supplementation is used extensively in CBS‐deficient patients to lower plasma tHcy. With betaine therapy, methionine levels increase over baseline, but usually remain below 1,500 μmol/L, and these levels have not been associated with adverse affects. We report a child with B6‐nonresponsive CBS deficiency and dietary noncompliance whose methionine levels reached 3,000 μmol/L on betaine, and who subsequently developed massive cerebral edema without evidence of thrombosis. We investigated the etiology by determining methionine and betaine metabolites in our patient, and several possible mechanisms for her unusual response to betaine are discussed. We conclude that the cerebral edema was most likely precipitated by the betaine therapy, although the exact mechanism is uncertain. This case cautions physicians to monitor methionine levels in CBS‐deficient patients on betaine and to consider betaine as an adjunct, not an alternative, to dietary control. © 2002 Wiley‐Liss, Inc.
Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype
Authors: Prasad Chitra , Marles Sandra , Prasad Asuri N. , Nikkel Sarah , Longstaffe Sally , Peabody Deborah , Eng Barry , Wright Sarah , Waye John S. , Nowaczyk Małgorzata J.M. 
Published: August 2002

AbstractSmith‐Lemli‐Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIM™, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3β‐hydroxysterol Δ7‐reductase gene, DHCR7. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in DHCR7. The proposita initially presented with feeding difficulties, failure to thrive, hypotonia, mild developmental delay, and oral tactile aversion. She had minor facial anomalies and 2–3 syndactyly of her toes in both feet. The plasma cholesterol was borderline low at 2.88 mmol/L (normal 2.97–4.40 mmol/L). Elevated plasma 7‐dehydrocholesterol level of 200.0 μmol/L confirmed the clinical diagnosis of SLOS. Molecular analysis demonstrated compound heterozygosity for IVS8‐1G →C and Y280C, a new missense mutation in DHCR7. Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype. © 2002 Wiley‐Liss, Inc.
Pure 6p22‐pter trisomic patient: Refined FISH characterization and genotype‐phenotype correlation
Authors: Giardino D. , Finelli P. , Caufin D. , Gottardi G. , Lo Vasco R. , Turolla L. , Larizza L. 
Published: August 2002

AbstractFirst described in 1971, partial trisomy 6p is uncommon and generally secondary to a familial reciprocal translocation. The proximal breakpoint of the reported cases varies from p11 to p25. We here report on a patient with moderate mental retardation, craniofacial and pigmentary anomalies, proteinuria, and hyperglycemia who was found to have a mosaic karyotype 46,X,add(Y)(q12)/45,X. Fluorescence in situ hybridization (FISH) enabled us to identify that the additional material on Yqh derived from 6p and to define the rearrangement as der(Y)t(Y;6)(q12;p22). To the best of our knowledge, this is the first case of trisomy 6p22‐pter without an associated deleted segment; the second breakpoint of the rearrangement is in Yqh. Precise mapping of the centromeric breakpoint of the trisomic 6p segment allowed a more convincing correlation between partial 6p trisomy and clinical phenotype to be addressed. In particular, the proteinuria often observed in 6p trisomic patients could be assigned to the 6p22‐6pter region. © 2002 Wiley‐Liss, Inc.
Spectrum of the acrocallosal syndrome
Authors: Koenig Rainer , Bach Alexia , Woelki Ulrike , Grzeschik Karl‐Heinz , Fuchs Sigrun 
Published: August 2002

AbstractAcrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre‐ and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. Two patients had only mild to moderate mental retardation at the age of 2½ and 4 years, respectively, with surprisingly good speech development. The third patient was severely affected and died at age 7 days because of persistent apnea. All three patients had agenesis of the corpus callosum, and large intracranial cysts, which in the third case was confirmed as a large arachnoid cyst at autopsy. Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome. © 2002 Wiley‐Liss, Inc.
Searching for evidence of DFNB2
Authors: Astuto Lisa M. , Kelley Philip M. , Askew James W. , Weston Michael D. , Smith Richard J.H. , Alswaid Abdulrahman F. , Al‐Rakaf Mona , Kimberling William J. 
Published: August 2002

AbstractDeafness is the most common form of sensory impairment in humans, affecting about 1 in 1,000 births in the United States. Of those cases with genetic etiology, approximately 80% are nonsyndromic and recessively inherited. Mutations in several unconventional myosins, members of a large superfamily of actin‐associated molecular motors, have been found to cause hearing loss in both humans and mice. Mutations in the human unconventional Myosin VIIa (MYO7A), located at 11q13.5, are reported to be responsible for both syndromic and nonsyndromic deafness. MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. Usher I is clinically characterized by congenital profound deafness, progressive retinal degeneration called retinitis pigmentosa (RP), and vestibular areflexia. Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). Our study attempts to ascertain additional DFNB2 families to investigate the disparate nonsyndromic phenotype and alleged causative mutations. Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample. These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss. © 2002 Wiley‐Liss, Inc.
Novel and previously reported single‐nucleotide polymorphisms in the human 5‐HT1B receptor gene: No association with cocaine or alcohol abuse or dependence
Authors: Cigler Tessa , LaForge K. Steven , McHugh Pauline F. , Kapadia Sagar U. , Leal Suzanne M. , Kreek Mary Jeanne 
Published: August 2002

AbstractEvidence from animal self‐administration and human genetics studies suggests that the serotonin1B (5‐HT1B) receptor may be involved in modulating responses to cocaine or alcohol. We hypothesize that polymorphisms, including single‐nucleotide polymorphisms (SNPs), in the human 5‐HT1B receptor gene, may be associated with individual differences in vulnerability to cocaine or alcohol abuse or dependence. A total of 210 subjects were studied, including individuals with a primary diagnosis (DSM‐IV criteria) of cocaine abuse or dependence, alcohol abuse or dependence, and controls with no history of previous or current illicit drug or alcohol abuse or dependence. Genomic DNA samples were isolated from each individual. For 157 of the subjects, polymerase chain reaction (PCR) was used to amplify the entire coding region of the 5‐HT1B receptor gene as well as parts of the 5′ and 3′ untranslated regions. PCR products were sequenced in forward and reverse directions on an automated sequencer. Amplified DNA from an additional 53 subjects was sequenced in the 5′ untranslated region to gain additional data on the frequency of one identified SNP. Seven polymorphisms were identified: one novel SNP in the 5′ untranslated region (UTR) of the gene (A‐161T); one SNP not reported in any published scientific communication (but found to be recorded in GenBank) in the 3′ UTR (A1180G); two novel dinucleotide deletions at positions − 184/− 183 and − 182/− 181; and three previously identified SNPs (T‐261G, C129T, G861C). Data were stratified by ethnicity and pooled Relative Risk was calculated for combined alcohol abuse and dependence cases and controls, and also for combined cocaine abuse and dependence cases and controls. No significant differences between cases and controls were found. © 2001 Wiley‐Liss, Inc.
Immigration and hybridization patterns of yellow and anubis baboons in and around Amboseli, Kenya
Authors: Alberts Susan C. , Altmann Jeanne 
Published: August 2002

AbstractIn 1986, Samuels and Altmann reported evidence for a hybrid zone between Papio anubis and Papio cynocephalus in Amboseli, Kenya, in a baboon population that has been the subject of long‐term study since 1971 [Samuels & Altmann, International Journal of Primatology 7:131–138, 1986]. In the current report we document ongoing patterns of hybridization in Amboseli between anubis and yellow baboons. In July 2000, we exhaustively scored living members of study groups for their degree of hybridity, using seven phenotypic characteristics (five in juveniles). We also scored all former members of study groups on the basis of photographic records, field notes, and observer recollections. A total of five anubis males and 11 males with hybrid phenotypes have immigrated into study groups over the course of the long‐term study, and immigrations by hybrid males have increased in frequency over time. Further, the increasing frequency of hybrid phenotypes among animals born into study groups indicates that anubis and hybrid males have successfully reproduced in study groups. However, hybrid phenotypes and anubis immigrations were limited to groups in the southwestern portion of the Amboseli basin, with no hybrids occurring in the six eastern groups. Finally, we present evidence that anubis and hybrid males in Amboseli exhibit patterns of natal dispersal that are different from those of yellow males in Amboseli: males with anubis or hybrid phenotypes were significantly more likely to immigrate as juveniles or young subadults than were yellow males. Am. J. Primatol. 53:139–154, 2001. © 2001 Wiley‐Liss, Inc.
Reproductive behavioral changes during the ovarian cycle of lesser bushbabies (Galago moholi) in captivity
Authors: Lipschitz David L. , Galpin Jacqueline S. , Meyer Denny 
Published: August 2002

AbstractBehavioral patterns were quantified in seven heterosexual lesser bushbaby (Galago moholi) pairs during the estrous cycle to determine the relative significance of behavioral and nonbehavioral components of female sexuality in mate attraction. Increases in the occurrence of several male behaviors indicating female attractiveness were initiated during vaginal swelling when the female was sexually nonreceptive. Female behavioral estrus, as indicated by intromission, was confined to a portion of vaginal opening coinciding with proestrous and vaginal estrous smears. Female attractiveness was maintained for much of the period of vaginal opening, whereas female receptivity ended a day or two earlier than attractiveness. Female receptive and proceptive behaviors were not well defined or extensive, and few female behaviors exhibited significant changes during the cycle. Scent‐marking behaviors, such as urine washes, and male grooms, were generally elevated outside the behavioral estrous period. In G. moholi, male sexual arousal appears to be elicited primarily by female attractiveness, while behavioral components of female sexuality appear to be less important in influencing mate attraction. Am. J. Primatol. 55:101–115, 2001. © 2001 Wiley‐Liss, Inc.
Ancient mitochondrial DNA evidence for prehistoric population movement: The numic expansion
Authors: Kaestle Frederika A. , Smith David Glenn 
Published: August 2002

AbstractThe mitochondrial DNA of modern Native Americans has been shown to fall into one of at least five haplogroups (A, B, C, D, or X) whose frequencies differ among tribal groups. The frequencies of these five haplogroups in a collection of ancient individuals from Western Nevada dating to between approximately 350–9,200 years BP were determined. These data were used to test the hypothesis, supported by archaeological and linguistic data, that the current inhabitants of the Great Basin, the Numic speakers, are recent immigrants into the area who replaced the previous non‐Numic inhabitants. The frequency distributions of haplogroups in the ancient and modern Native Americans differed significantly, suggesting that there is a genetic discontinuity between the ancient inhabitants and the modern Numic speakers, providing further support for the Recent Numic Expansion hypothesis. The distribution of mitochondrial haplogroups of the ancient inhabitants of the Great Basin is most similar to those of some of the modern Native American inhabitants of California. Am J Phys Anthropol 115:1–12, 2001. © 2001 Wiley‐Liss, Inc.
Founding Amerindian mitochondrial DNA lineages in ancient Maya from Xcaret, Quintana Roo
Authors: González‐Oliver Angélica , Márquez‐Morfín Lourdes , Jiménez José C. , Torre‐Blanco Alfonso 
Published: August 2002

AbstractAncient DNA from the bone remains of 25 out of 28 pre‐Columbian individuals from the Late Classic‐Postclassic Maya site of Xcaret, Quintana Roo, was recovered, and mitochondrial DNA (mtDNA) was amplified by using the polymerase chain reaction. The presence of the four founding Amerindian mtDNA lineages was investigated by restriction analysis and by direct sequencing in selected individuals. The mtDNA lineages A, B, and C were found in this population. Eighty‐four percent of the individuals were lineage A, whereas lineages B and C were present at low frequencies, 4% and 8%, respectively. Lineage D was absent from our sample. One individual did not possess any of the four lineages. Six skeletons out of 7 dated from the Late Classic period were haplotype A, whereas 11 skeletons out of 16 dated from the Postclassic period were also haplotype A.The distribution of mtDNA lineages in the Xcaret population contrasts sharply with that found in ancient Maya from Copán, which lack lineages A and B. On the other hand, our results resemble more closely the frequencies of mtDNA lineages found in contemporary Maya from the Yucatán Peninsula and in other Native American contemporary populations of Mesoamerican origin. Am J Phys Anthropol 116:230–235, 2001. © 2001 Wiley‐Liss, Inc.