bluuebunny/crossref_metadata_2025_split huggingface dataset:
Choanal atresia in a patient with the deletion (9p) syndrome
Authors: Shashi Vandana , Golden Wendy L. , Fryburg Julie S. 
Published: August 2005

AbstractWe report on a child with chonal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for this particular deletion as part of the differential diagnosis. © 1994 Wiley‐Liss, Inc.
Short rib‐polydactyly syndrome and pericentric inversion of chromosome 4
Authors: Urioste Miguel , Martínez‐Frías María Luisa , Bermejo Eva , Jiménez Nicolás , Romero Dolores , Nieto Carmen , Villa Amelia 
Published: August 2005

AbstractWe report on a newborn infant with clinical and radiological manifestations of some type of short rib‐polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib‐polydactyly syndromes, or else be related to the mechanism of short rib‐polydactyly syndromes. © 1994 Wiley‐Liss, Inc.
Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome?
Authors: Feigenbaum Annette , Bergeron Catherine , Richardson Robert , Wherrett John , Robinson Brian , Weksberg Rosanna 
Published: August 2005

AbstractWe describe two brothers with sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive deterioration in renal function, resulting in death in the third decade of life. Autopsy showed diffuse atherosclerosis and arteriolosclerosis of the systemic vasculature. There was no evidence of these abnormalities in the patients' 2 sisters or either parent. Mitochondrial enzyme analysis documented partial deficiencies of Complex III and IV of the respiratory chain. This deficiency was expressed in skin fibroblasts, kidney and liver but not in muscle. This suggests that the disease‐causing mutation is either in the mitochondrial or nuclear DNA. Various modes of inheritance are considered, including maternal, autosomal recessive, or X‐linked recessive. We suggest this is a new genetic syndrome characterized by an underlying metabolic disease and premature atherosclerosis, possibly of mitochondrial origin. © 1994 Wiley‐Liss, Inc.
Familial visceral neuropathy: A defined entity?
Authors: Roper E.C. , Gibson A. , McAlindon M.E. , Williams L.H.P. , Cook J.A. , Kandler R.H. , Quarrell O.W.J. 
Published: August 2005

AbstractFamilial visceral neuropathy (FVN) is a heterogeneous group of disorders due to abnormalities of the myenteric plexus. FVN with neuronal intranuclear inclusions is one particular form of FVN with a variable phenotype that includes achalasia, gastro‐esophageal reflux, intestinal dysmotility and pseudo‐obstruction, dysarthria, peripheral neuropathy and pupillary defects, and the presence of intranuclear inclusions within the neurons of the enteric nervous system. We present a four‐generation family in which 10 individuals (7 of whom have been examined) are affected with FVN. The family was previously reported as familial esophageal achalasia, an autosomal recessive condition (MIM200400). At that time, several individuals in a single sibship were affected and there were no manifestations in either parent. Since that report, two individuals have had affected children and the mother has developed symptoms and has abnormalities on electromyography, thus enabling us to reclassify the family. This family provides further evidence of autosomal dominant inheritance, with marked variation in expression. © 2005 Wiley‐Liss, Inc.
High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss
Authors: Álvarez Araceli , del Castillo Ignacio , Villamar Manuela , Aguirre Luis A. , González‐Neira Anna , López‐Nevot Alicia , Moreno‐Pelayo Miguel A. , Moreno Felipe 
Published: August 2005

AbstractMolecular testing for mutations in the gene encoding connexin‐26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non‐syndromic hearing impairment (ARNSHI). The spectrum of mutations in GJB2 varies considerably among the populations, different alleles predominating in different ethnic groups. A cohort of 34 families of Spanish Romani (gypsies) with ARNSHI was screened for mutations in GJB2. We found that DFNB1 deafness accounts for 50% of all ARNSHI in Spanish gypsies. The predominating allele is W24X (79% of the DFNB1 alleles), and 35delG is the second most common allele (17%). An allele‐specific PCR test was developed for the detection of the W24X mutation. By using this test, carrier frequencies were determined in two sample groups of gypsies from different Spanish regions (Andalusia and Catalonia), being 4% and 0%, respectively. Haplotype analysis for microsatellite markers closely flanking the GJB2 gene revealed five different haplotypes associated with the W24X mutation, all sharing the same allele from marker D13S141, suggesting that a founder effect for this mutation is responsible for its high prevalence among Spanish gypsies. © 2005 Wiley‐Liss, Inc.
Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence
Authors: Robin Nathaniel H. , Franklin Judith , Prucka Sandra , Ryan Ashley B. , Grant John H. 
Published: August 2005

AbstractAmniotic band sequence (ABS) is a well‐described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion‐Almieda and Richieri‐Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS‐like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6. © 2005 Wiley‐Liss, Inc.
Nerve endings of the lemur (Lemur fulvus rufus)
Authors: Zollman Paul E. , Winkelmann R. K. 
Published: August 2005

AbstractNerve structures in lemur skin (Lemur fulvus rufus) studied with silver impregnation and histochemical methods presented certain unique features. The primary nerve structure of the skin was found to be the hair nerve end‐organ. In this animal it contained no cholinesterase. The specialized nerve endings of the glabrous skin were Meissner‐form corpuscles similar to those of other primates and contained nonspecific cholinesterase. Vater‐Pacini corpuscles were observed in deeper tissue. The mammalian end‐organ was observed in the nose, palate and lip and it was readily demonstrated by silver impregnation and cholinesterase methods. The nasal end‐organ of intraepithelial neurofibrils is described. The lemur is the only primate that has the mammalian end‐organ as a major form of sensory receptor.
Distribution of hereditary blood antigens among Indians in Middle America. VII. In Costa Rica
Authors: Albin Matson G. , Swanson Jane 
Published: August 2005

AbstractA total of 208 blood samples were procured from Indians in Costa Rica. Cells from clotted specimens were tested for the blood group antigens A, B, M, N, S, s, Mia, Vw, C, Cw, D, E, c, e, V (ces), Lua, Lub, K, k, Lea, Leb, Fya, Jka, Dia, Wra, Jsa, and Bea. Phenotypes and corresponding gene frequencies define by these antigens are presented for the Boruca, Bribri, Cabecar, and Terraba tribes.The Costa Rican Indians, excepting the Boruca, are 100% Group O. The presence of one Group A and two Group B persons among 56 Boruca is suggestive of racial admixture among them.The frequency for the M gene is especially high in the Cabecar which population also shows a complete absence of homozygous NN.The incidence of P1 antigen is unusually high in the Boruca, Cabecar and Terraba (81.07%, 98.39%, and 95.00%, respectively), but in the Bribri the incidence is only moderately high (84.00%).Typical of other Indian populations in Middle America, the Costa Rican tribes show high frequencies for cDE (R2) chromosom; whereas cDe (R0) and/or cde (r) chromosome frequencies are low or absent. No Diego (Dia) antigen was present in the blood samples from the Bribri, Cabecar and Terraba, but it was found in eight of 56 samples from the Boruca.The Mia, Vw, K, Lua, Lea, Wra, and Bea antigens were all absent as were the predominantly negro antigens Jsa and V in the Costa Rican Indian blood samples.
A comparison of Sheldon's and Parnell's methods for quantifying morphological differences
Authors: Haronian Frank , Arthur Sugerman A. 
Published: August 2005

AbstractComparison of Sheldon's somatotype and Parnell's phenotype scores on 102 normal male university students showed significant differences between all three matched pairs of components. Shared variances were 35% for endomorphy and Fat, 44% for mesomorphy and Muscularity, and 74% for ectomorphy and Linearity. Parnell's Muscularity scores averaged nearly one point less than Sheldon's mesomorphy scores. Although both systems exhibit redundancy, neither seems reduceable to two scores. Because both systems show twice as many correlations with a variety of psychological measures as would be expected by chance, it would be useful to include either or both systems routinely in psychological studies.
The distribution and disposition of anomalous notches in the non‐epiphyseal ends of human metacarpal shafts
Authors: Dreizen Samuel , Spirakis Charles N. , Stone Robert E. 
Published: August 2005

AbstractThe incidence, duration and location of notches in the non‐epiphyseal ends of the metacarpal shafts were determined from serial sequential radiographs of the left hand of 332 ethnically comparable children. Each series of films extended from shortly after birth to late adolescence or early adulthood. The notches represent vestiges of supernumerary epiphyses or pseudo‐epiphyses and are regarded as indicative of disturbances in skeletal maturation.Metacarpal notching was found in 132 (78.1% ) of 169 boys and in 118 (72.4% ) of 163 girls. The mean number of notches per subject was significantly higher in boys than in girls and in slow maturing as opposed to fast maturing children in each sex. Regardless of sex or speed of skeletal maturation, the most frequent locations of notching were radial border of metacarpal II, ulnar side of metacarpal V and radial margin of metacarpal I. Notches were most common in metacarpal II followed in declining order by metacarpals V, I, III and IV. The notches disappeared approximately two years earlier in girls than in boys. All were obliterated by deposition of osseous tissue long before fusion of the true epiphysis with the metacarpal shaft.
Neonatal mortality and altitude in Peru
Authors: Mazess Richard B. 
Published: August 2005

AbstractAnalysis of Peruvian census materials shows an increase of neonatal mortality with altitude. This increase is analagous to, but greater than, that known to obtain in the United States population. Neonatal mortality in the highlands of Peru averages from 50 to 60 deaths per 1,000 live births, about double that of the lowlands. The association of neonatal mortality with elevation appears partially diminished when other areal differences are considered.
The methodology of gait analysis and gaits of monkeys
Authors: Prost J. H. 
Published: August 2005

AbstractMotion pictures were taken of two subadult monkeys (Macaca and Lagothrix) running and walking on level ground. The film strips were analyzed to determine the timing of the limb contacts with the surface. Generalizations and associations from the film analysis were used to construct a model system which categorizes gait types for quadrupedal running and walking.Some of the major conclusions derived from the analysis of the film segments were: 1. Simultaneous contacts or withdrawals were artifacts of recording precision. 2. The most frequent footfall order types were: right hind (Rh), left front (Lf), left hind (Lh), right front (Rf); RhRfLhLf; RhLhRfLf. 3. The most frequent support combinations, and those having the longest relative durations, were: RhLf and LhRf. 4. The number of frames for a single contact varied directly as the number of frames during which the body (head‐rump length) simultaneously passed over a stationary ground point. The number of frames for non‐contacts had a relative function which is similar to that of a constant.
Physical anthropology of the Canary Islands: Old and new views
Authors: Fuste Miguel 
Published: August 2005

AbstractThe study of the Canary Islanders illustrates the shift in view point among human biologists during the past century from an interest in typology to the present interest in population genetics. Earlier notions, derived from morphological observations, that a Negroid element existed in the population, are disproved by analysis of palmar dermatoglyphics and haptoglobin types. Neither of these genetically controlled characteristics reveals any Negroid affinities. It is furthermore clear that isolation and local environmental differences have led to some degree of morphological and even genetic variation within the living Canarian population.
Haptoglobins and transferrins in Melanesia: Relation to hemoglobin, serum haptoglobin and serum iron levels in population groups in Papua—New Guinea
Authors: Curtain C. C. , Gajdusek D. C. , Kidson C. , Gorman J. G. , Champness L. , Rodrigue R. 
Published: August 2005

AbstractThis paper reports haptoglobin and transferrin typping of 2687 serum specimens from Melanesians of New Guinea and New Britain. The specimens were obtained from members of 27 different cultural and linguistic groups residing in over 100 different villages in six different administrative districts. They were divided among the Districts as follows: New Britain 821, Sepik 623, Morobe 349, Eastern Highlands 613, Southern Highlands 222, and Western Highlands 59.In addition serum haptoglobin levels, serum iron levels and total serum iron binding capacity have been determined on these subjects. In the field hemoglobin determinations, blood smears for examination for malaria parasite rates, and spleen palpations were done on a proportion of the subjects, mostly children under ten years whose sera have been examined in this study. These field and laboratory results are correlated with the transferrin and haptoglobin gene frequency findings.
Sensitivity to P‐T‐C among primates
Authors: Eaton John W. , Gavan James A. 
Published: August 2005

AbstractThe taste threshold of 228 subjects from 17 species of non‐human primates was determined with graded solutions of P‐T‐C. Among species for which the sample size was sufficiently large, only the chimpanzee definitely showed a bimodal distribution. Experiments with tyrosine and cabbage indicate that the concentration of the former, in saliva, influences the individual's threshold and that the amount of cabbage, or other goitrogens, in the diet probably also has an influence. These results, in addition to information in the literature, indicate that sensitivity to P‐T‐C is not selectively neutral and, in man, may be another example of balance polymorphism.
The blood factors I and i in primates including man, and in lower species
Authors: Wiener Alexander S. , Moor‐Jankowski J. , Gordon Eve B. , Davis J. 
Published: August 2005

AbstractHuman‐type blood factors I and i have been investigated in several primate species including man, and in other mammals. The anti‐I tests were performed with the original antiserum which led to the discovery of blood factor I. The anti‐i serum used was obtained from a patient with severe idiopathic hemolytic anemia. Both antisera were similar in serological reactivity, except for their difference of specificity. Human adults, in general, have blood factor I but lack factor i; those very rare adults of type i who lack factor I have the factor i instead. In newborn human infants the factor I is still undeveloped and blood factor i is present in its place.In all other species only juvenile and adult animals have so far been tested. Chimpanzees lack blood factor I but have the factor i, which could be interpreted as phylogeny paralleling ontogeny; however, gibbons lack both factors I and i while orangutan has an intermediate position. All Catarrhini tested, namely, yellow baboons, geladas, patas, mangabeys, macaques, African green, talapoin and Sykes monkeys lack blood factor I but have the factor i. Among Platyrrhini the results are less uniform: Capuchins have very strong blood factor I and a weak factor i, while squirrel and spider monkeys have factor i and little or no factor I. On the other hand, marmosets have both factors I and i well developed. Only two single prosimians were tested: slow loris had factor i but no factor I, while potto lacked both factors I and i.Among non‐primate animals, sheep, goat, deer, cat and South American agoutilack both factors I and i; dog and rat lack factor I but have a weak factor i, while rabbit has a very strong factor I but lacks the factor i.Bearing in mind the relatively small number of animals tested within each species, the present study indicates a heterophile behavior of the blood factors I and i in mammals, in that their distribution cuts across taxonomic lines.
Stature increase among Italian‐Americans: Environmental, genetic, or both?
Authors: Damon Albert 
Published: August 2005

AbstractAmong 199 Italian‐American men, aged 20–59, over 90% American born of Neapolitan parentage, and working in a single factory near Boston, stature increased progressively from the sixth to the third decade. The difference, 2.1 inches (p < 0.001), is the largest yet reported for adults over so short a period. Most of the increase is environmentally mediated, but the possibility of heterosis is suggested by the greater stature of sons of exogamous matings than of endogamous matings (difference = 0.73 inches, 0.06 > p > 0.05), independently of age.
Variation studies on plantar intertriradial measurements: The a‐b measurement in Panjabi Brahmans
Authors: Datta P. K. 
Published: August 2005

AbstractVariability in the plantar intertriradial measurement a‐b has been studied in 200 Panjabi Brahmans from India with a view to determining statistically the bilateral and sex differences. The mean measurements in the right and left sides of males are 16.53 ± 0.24 mm and 17.42 ± 0.19 mm, respectively. In females, the corresponding distances are 14.95 ± 0.19 mm and 15.52 ± 0.19 mm. The test of significance reveals statistically significant bilateral as well as male/female differences.
Heights and weights of Jamaican schoolchildren of various ethnic groups
Authors: Ashcroft M. T. , Heneage P. , Lovell H. G. 
Published: August 2005

AbstractIn Kingston, Jamaica, it is possible to disentangle racial and environmental factors, both of which influence the size of children, because secondary school children, of similar socio‐economic status, can be grouped as being predominantly of African, European, Afro‐European or Chinese racial origin. The heights and weights of about 5,000 children, aged 11 to 17 years, were measured. The stature of Africans, Afro‐Europeans and Europeans was similar, indicating that in Jamaica the potential height of the African is at least as great as that of the European race. Chinese were consistently smaller than the others, a difference due to inherited racial factors.
Are there Hebrews left?
Authors: Bonne Batsheva 
Published: August 2005

AbstractThe Samaritan sect in the Middle East traces its ancestry over a period of more than 2,000 years from the Biblical Samaritans. The Samaritans are the guardians of a unique and very ancient religious literature which together with other historical accounts makes their claim of such a length of existence probable.Comparison of blood group frequencies as well as other genetic markers (such as PTC sensitivity, color blindness and G6PD deficiency) indicate that the Samaritans are unlike any of the existing surrounding groups whom they might be expected to resemble. From comparison of anthropometric data the Samaritans appear to exhibit their own “typical” features which do not resemble those of any other Jewish or non‐Jewish community in the Middle East. These differences support the contention that the Samaritans' separation and isolation from the communities is not a recent event. The possibility that the Samaritans today can be regarded as modern representatives of the ancient Hebrews and the living offspring of a particular branch of the Israelite kingdom is discussed.
Wolff's law and the problem of muscle attachment on resorptive surfaces of bone
Authors: Hoyte D. A. N. , Enlow Donald H. 
Published: August 2005

AbstractDuring the growth of a bone, outer (periosteal) surfaces in many areas undergo normal remodeling processes involving resorptive removal. Attachments of muscles commonly occur on such outer resorptive surfaces. The cortex in these regions grows in an inward direction by bone deposition on endosteal surfaces. In some areas of a bone, a portion of a muscle can be inserted onto a depository surface, but other parts of the same muscle may be attached onto an adjacent resorptive surface. It has been generally assumed that the pull of a muscle acts to directly stimulate deposition of new bone, and that attachments of muscle are thereby responsible for determining the gross morphology of a whole bone. In view of the foregoing considerations, a re‐evaluation and an expansion of this concept is now needed. Muscle pull, in many regions of a bone, can be associated with normal cortical recession (involving surface resorption) as well as with outward bone deposition.
Metric and taxonomic variations in the dentitions of two Asian cercopithecoid species: Macaca mulatta and Macaca speciosa
Authors: Biggerstaff Robert H. 
Published: August 2005

AbstractThe primary molars and the first permanent molars of two Asian cercopithecoid species, Macaca mulatta and Macaca speciosa, were statistically described. Sexual dimorphism was not found related to tooth dimensions nor was there a significant difference between the right and the left sides. Generally, the teeth of Macaca mulatta were found to be larger than those of Macaca speciosa, and that this difference was significant for most tooth measurements.The discriminant function analysis reveals that the two species may be distinguished by tooth dimensions alone except in the dimensional range where over‐lapping is expected.