bluuebunny/crossref_metadata_2025 huggingface dataset:
Modeling problems in conservation genetics using captive Drosophila populations: Consequences of equalizing founder representation
Authors: Loebel David A. , Nurthen Roderick K. , Frankham Richard , Briscoe David A. , Craven Duncan
Published: June 2005

Equalizing founder representation is a recommended practice for maintaining captive populations. However, this procedure has not been subject to controlled experimental evaluation. The effects on inbreeding, genetic variation, and reproductive fitness of maintaining small captive populations by equalizing founder representation (EFR) versus randomly choosing parents (RC) were compared. Ten replicate lines were created with unequal founder representations, split into EFR and RC lines, and maintained for a further eight generations. Founder representations computed from pedigrees were closer to equality in the EFR lines than in the RC lines or the base population, most of the changes being evident after one generation. Significant benefits of EFR were found in lowered inbreeding (mean inbreeding coefficients of 0.35 and 0.41, respectively, for EFR and RC lines) and average heterozygosity (0.141 for EFR, 0.084 for RC, compared with 0.216 in the base population). However, EFR was not significantly better than RC in moving allele frequencies towards equalized founder representation. No significant difference was found in reproductive fitness between EFR and RC (relative fitnesses compared to the base population were 0.179 for EFR and 0.182 for RC). The use of equalization of founder representation for a few generations can be recommended in the genetic management of captive populations derived from a small number of founders that contribute unequally. © 1992 Wiley‐Liss, Inc.
Modeling problems in conservation genetics using captive Drosophila populations: Improvement of reproductive fitness due to immigration of one individual into small partially inbred populations
Authors: Spielman Derek , Frankham Richard
Published: June 2005

Immigration into small isolated captive and wild populations is recommended to alleviate inbreeding depression. The effects on reproductive fitness of introducing one immigrant into 10 small partially inbred captive populations of D. melanogaster were evaluated. The relative reproductive fitness of the immigrant populations (0.628) was approximately double that of the isolated populations (0.294) and about halfway between the isolated populations and the outbred base population (1.00). Every replicate population increased in fitness following the introduction of an immigrant. The improvements in reproductive fitness shown by the immigrant populations were not due to F1 hybrid vigor, as the experimental populations underwent three generations of random mating prior to the fitness tests. These results indicate substantial benefits can be gained by the translocation of as few as a single animal between small, partially inbred populations. © 1992 Wiley‐Liss, Inc.
Activity budgets of captive Laysan ducklings (Anas laysanensis)
Authors: Marshall Ann P.
Published: June 2005

This study examined how diurnal activity budgets, visibility to observer, and distance to parents changed during the day and during three stages of development of captive Laysan ducklings. All behaviors except feeding, swimming, and terrestrial locomotion varied significantly across the stages of development. There was a significant time of day effect for 5 behaviors: stationary, flying, swimming, under female, and lying. A significant interaction between stage and time of day for 4 behaviors, viz., stationary, flying, under female, and out of sight, was also found. Young ducklings followed the female, were under the female, or were out of sight significantly more often than older ducklings. Older ducklings performed maintenance behaviors or boundary walking, or were stationary, flying, social, lying, or lying out of sight significantly more often than younger ducklings. Swimming and flying were most often performed late in the day, and the ducklings were stationary most often in early and late periods of the day. They were also most often under the female during early and late periods of the day. © 1992 Wiley‐Liss, Inc.
PREDICTING THE CLEANABILITY OF MIX‐PROOF VALVES BY USE OF WALL SHEAR STRESS
Authors: JENSEN BO B.B. , FRIIS ALAN
Published: June 2005

The purpose of this work was to predict the outcome of a practical cleaning test for closed food‐process equipment by examining wall shear stress distributions in the equipment estimated from Computational Fluid Dynamics (CFD) simulations. Such predictions make evaluation and improvement of hygienic design of equipment prior to prototype production possible. To do this, knowledge of hydrodynamic cleaning effects is required. The importance of hydrodynamics was shown by cleaning tests on a mix‐proof valve (MPV) and a straight pipe. The MPV was easier to clean than a straight pipe. An explanation to this was sought in this work by the idea of a critical wall shear stress. A radial flowcell (RFC) was used for prediction of the critical wall shear stress. Prediction of cleanability in the MPV was performed by comparison of wall shear stress estimated in the MPV by CFD to the critical wall shear stress found in the RFC. Cleanability was under‐predicted by the use of simulated wall shear stress compared with cleanability estimated from actual cleaning trials.
SOLID FOODS FREEZE‐DRYING SIMULATION AND EXPERIMENTAL DATA
Authors: KHALLOUFI S. , ROBERT J.‐L. , RATTI C.
Published: June 2005

This article presents a mathematical model describing the unsteady heat and mass transfer during the freeze drying of biological materials. The model was built from the mass and energy balances in the dried and frozen regions of the material undergoing freeze drying. A set of coupled nonlinear partial differential equations permitted the description of the temperature and pressure profiles, together with the position of the sublimation interface. These equations were transformed to a finite element scheme and numerically solved using the Newton‐Raphson approach to represent the nonlinear problem and the interface position. Most parameters involved in the model (i.e., thermal conductivity, specific heat, density, heat and mass transfer coefficients etc.) were obtained from experimental data cited in the literature. The dehydration kinetics and the temperature profiles of potato and apple slabs were experimentally determined during freeze drying. The simulation results agreed closely with the water content experimental data. The prediction of temperature profiles within the solid was, however, less accurate.
EFFECT OF PHYSICAL FACTORS ON ACETIC ACID PRODUCTION IN BRETTANOMYCES STRAINS
Authors: CASTRO‐MARTINEZ C. , ESCUDERO‐ABARCA B.I. , GOMEZ RODRÍGUEZ J. , HAYWARD‐JONES P.M. , AGUILAR‐USCANGA M.G.
Published: June 2005

Four species of Brettanomyces (intermedius, bruxellensis, custersianus, clausenii) were examined to ascertain their acetic acid production capacity. The results showed that B. bruxellensis was the strain with the best volumetric productivity  and  specific  production  rate  (P = 0.065 gL−1 h−1;  Vp = 0.43 gg−1h−1). The best kinetic parameters were reached (P = 0.133 gL−1 h−1; Yp/s = 0.23; Pmax = 11.64 gL−1)  at  an  airflow  of  288 Lh−1 (0.6 vvm,  OTR = 124 mgO2L−1 h−1), and substrate inhibition was not observed. The influence of temperature and agitation on acetic acid production by B. bruxellensis in a glucose medium was investigated at different levels, 26, 30, 34C and 250, 350, 450 rpm, respectively. Temperature and agitation were shown to be deci‐sive factors (P < 0.05) in acetic acid production at 288 Lh−1(0.6 vvm, OTR = 124 mgO2L−1 h). The optimal conditions for a high volumetric productivity were 30C and 250 rpm, respectively.
UNDERSTANDING ULTRAFILTRATION PERFORMANCE WITH MOSAMBI JUICE IN AN UNSTIRRED BATCH CELL
Authors: RAI P. , MAJUMDAR G.C. , DASGUPTA S. , DE S.
Published: June 2005

Ultrafiltration (UF) of sucrose and pectin solutions, their mixtures and enzymatically treated mosambi (Citrus sinensis [L.] Osbeck) juice has been performed on a batch unstirred membrane cell. Thin film composite polyamide membrane of molecular weight cut‐off 50,000 was used. The sucrose solution's permeate flux declined marginally, but for the pectin solution, it decreased rapidly over time. The sucrose–pectin mixture exhibits a flux decline similar to that of the pectin solution. The gel‐type pectin layer over the membrane's surface governs the flux decline of the sucrose–pectin mixture. The nature of the flux decline and the values of the permeated total soluble solids of enzymatically treated mosambi juice show similar behavior as compared with that of the UF of the sucrose–pectin mixture. The permeate of the enzyme‐treated mosambi juice contains almost all the soluble solids and acids (in terms of citric acid) with a remarkable improvement in juice clarity.
CONTINUOUS PASTEURIZATION OF EGG YOLK: THERMOPHYSICAL PROPERTIES AND PROCESS SIMULATION
Authors: GUT JORGE ANDREY WILHELMS , PINTO JOSÉ MAURÍCIO , GABAS ANA LÚCIA , TELIS‐ROMERO JAVIER
Published: June 2005

This article presents empirical correlations to predict the density, specific heat, thermal conductivity and rheological power–law parameters of liquid egg yolk over a temperature range compatible with its industrial thermal processing (0–61C). Moreover, a mathematical model for a pasteurizer that takes into account the spatial variation of the overall heat transfer coefficient throughout the plate heat exchanger is presented, as are two of its simplified forms. The obtained correlations of thermophysical properties are applied for the simulation of the egg yolk pasteurization, and the obtained temperature profiles are used for evaluating the extent of thermal inactivation. A detailed simulation example shows that there is a considerable deviation between the designed level of heat treatment and that this is predicted through process simulation. It is shown that a reliable mathematical model, combined with specialized thermophysical property correlations, provide a more accurate design of the pasteurization equipment that ensures effective inactivation, while preserving nutritional and sensorial characteristics.
Real and complex dynamics of a family of birational maps of the plane: The golden mean subshift
Authors: Bedford Eric , Diller Jeffrey
Published: June 2005

We describe the (real) dynamics of a family of birational mappings of the plane. By combining complex intersection theory and techniques from smooth dynamical systems, we are able to give an essentially complete account of the behavior of both wandering and nonwandering orbits. In particular, the golden mean subshift provides a topological model for the dynamics on the nonwandering set. While the mappings are not hyperbolic, they are shown to possess many of the structures associated with hyperbolicity.
Volume rigidity for finite volume manifolds
Authors: Boland Jeffrey , Connell Chris , Souto Juan
Published: June 2005

We extend to finite volume manifolds some volume rigidity results of Besson-Courtois-Gallot. Our main result is a Volume Theorem which shows that proper maps from finite volume manifolds with Ricci curvature bounded from below to finite volume manifolds of pinched negative curvature decrease volume. As a consequence we deduce a lower bound on the minimal volume of finite volume manifolds possessing a proper map to a finite volume manifold of pinched negative curvature, and we show asymptotic isometry holds when the minimal volume is attained. Finally, we prove that finite, rank one, locally symmetric manifolds minimize normalized entropy rigidity in their homotopy class.
Gauss-Manin connections for arrangements, II Nonresonant weights
Authors: Cohen Daniel C. , Orlik Peter
Published: June 2005

We study the Gauss-Manin connection for the moduli space of an arrangement of complex hyperplanes in the cohomology of a nonresonant complex rank one local system. Aomoto and Kita determined this Gauss-Manin connection for arrangements in general position. We use their results and an algorithm constructed in this paper to determine this Gauss-Manin connection for all arrangements.
The tracking number of an algebra
Authors: Dalili K. , Vasconcelos W. V.
Published: June 2005

We introduce the technique of tracking numbers of graded algebras and modules. It is a modified version of the first Chern class of its free resolution relative to any of its standard Noether normalizations. Several estimations are obtained which are used to bound the length of chains of algebras occurring in the construction of the integral closure of a graded domain. Noteworthy is a quadratic bound on the multiplicity for all chains of algebras that satisfy the condition S 2 of Serre.
Sharp L 2 estimates for one-dimensional oscillatory integral operators with C ∞ phase
Authors: Greenblatt Michael
Published: June 2005

In this paper, sharp L 2 estimates are proved for general local one-dimensional oscillatory integral operators with smooth phase. The proof involves a coarse resolution of singularities in conjunction with a stopping time argument and extensions of the analytic methods of D. H. Phong and E. M. Stein.
Weight-monodromy conjecture over equal characteristic local fields
Authors: Ito Tetsushi
Published: June 2005

The aim of this paper is to study certain properties of the weight spectral sequences of Rapoport-Zink by a specialization argument. By reducing to the case over finite fields previously treated by Deligne, we prove that the weight filtration and the monodromy filtration defined on the l -adic étale cohomology coincide, up to shift, for proper smooth varieties over equal characteristic local fields. We also prove that the weight spectral sequences degenerate at E 2 in any characteristic without using log geometry. Moreover, as an application, we give a modulo p > 0 reduction proof of a Hodge analogue previously considered by Steenbrink.
Eta invariants and regularized determinants for odd dimensional hyperbolic manifolds with cusps
Authors: Park Jinsung
Published: June 2005

We study eta invariants of Dirac operators and regularized determinants of Dirac Laplacians over hyperbolic manifolds with cusps and their relations with Selberg zeta functions. Using the Selberg trace formula and a detailed analysis of the unipotent orbital integral, we show that the eta and zeta functions defined by the relative traces are regular at the origin so that we can define the eta invariant and the regularized determinant. We also show that the Selberg zeta function of odd type has a meromorphic extension over [inline-graphic xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="01i" /], prove a relation of the eta invariant and a certain value of the Selberg zeta function of odd type, and derive a corresponding functional equation. These results generalize the earlier work of John Millson to hyperbolic manifolds with cusps. We also prove that the Selberg zeta function of even type has a meromorphic extension over [inline-graphic xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="02i" /], relate it to the regularized determinant, and obtain a corresponding functional equation.
Storytelling Events, Violence, and the Appearance of the Past
Authors: Jackson Michael
Published: June 2005

Alluding to Sierra Leone's recent violent history, this paper argues that storytelling events offer insights into the ways that people evaluate, discuss, and negotiate social and ethical strategies for making communal life viable in war as well as in peace. At the same time, it explores some of the theoretical implications of Michael Oakeshott's assertion that "there are not two worlds—the world of past happenings and the world of our present knowledge of those past events—there is only one world, and it is the world of present experience" (Oakeshott 1933:108).
Violent Events as Narrative Blocs: The Disarmament at Bo, Sierra Leone
Authors: Hoffman Danny
Published: June 2005

Alluding to Sierra Leone's recent violent history, this paper argues that storytelling events offer insights into the ways that people evaluate, discuss, and negotiate social and ethical strategies for making communal life viable in war as well as in peace. At the same time, it explores some of the theoretical implications of Michael Oakeshott's assertion that "there are not two worlds—the world of past happenings and the world of our present knowledge of those past events—there is only one world, and it is the world of present experience" (Oakeshott 1933:108).
The Making of a Prostitute: Apollodoros's Portrait of Neaira
Authors: Glazebrook Allison
Published: June 2005

The portrait of Neaira in [Demosthenes] 59 is the most extensive account of a historical woman from the classical period. But what can we really know about this woman? What did the Athenian jurors know of her? This paper suggests that Neaira was relatively unknown until Apollodoros delivered his speech, and it argues, through a comparison of the narrative on Neaira in [Demosthenes] 59 with portraits of women in Isaios 3 and 6, Demosthenes 39, [Demosthenes] 40 and 48, that Apollodoros constructs and manipulates Neaira's identity as a prostitute using common rhetorical techniques, carefully chosen terms, and well-known social stereotypes in an effort to convince the jurors of her status and character as a prostitute.
Reinserting Woman into Contemporary Chinese National Identity: A Comparative Reading of Three "New Immigrant" Plays from 1990s Shanghai
Authors: Su Hongjun
Published: June 2005

This article investigates major issues related to the configuration of woman in the changing discourse of Chinese national identity under increasing pressure of capitalist globalization through the staging of three "new immigrant" plays by the Shanghai Dramatic Arts Center in the 1990s. Through analysis of performance and textual reading, it explores various ways in which gender was reinserted into the public discourse concerning the meaning of China's national identity, especially the employment of the "woman-as-nation" trope and the reconfiguration of femininity. Women involved in the study constructed a transnational Chinese femininity that challenges the masculine nationalist imposition.
Daniil Kharms, the Hunger Artist: Toward Eden, and the Other Way Around
Authors: Jakovljevic Branislav
Published: June 2005

In my essay I propose that this author's dramatic works, unpublished during his lifetime, can be properly assessed not according to their aesthetic properties or their stageability, but only as dramatizations understood in the sense of actualization, or discursive staging, of an idea. As a case in point, I take several of Kharms's works on the theme of the Fall from grace as dramatization of the idea of anthology as a conceptual field that includes not only the works, but also the body of the author himself.
Bodies, Race, and Performance in Derek Walcott's A Branch of the Blue Nile
Authors: MacDonald Joyce Green
Published: June 2005

This article discusses Derek Walcott's play, A Branch of the Blue Nile, as a postcolonial adaptation of Shakespeare and as a meditation on the connections between gender, race and performance in Caribbean culture.
The Bind of Representation: Performing and Consuming Hypersexuality in Miss Saigon
Authors: Shimizu Celine ParreÃ±as
Published: June 2005

This essay evaluates the predominance of race panic logic when addressing Asian female hypersexuality in representation in order to counter the equation of hypersexuality as racist, antifeminist and anti-Asian American. Both authorial and spectatorial encounters in later productions of the musical Miss Saigon (1989) describe a multifaceted dynamic of bondage within terms of injury and pleasure, in relations spurred by hypersexual representations. My study forges a theory of representation that accounts for the bind of being an Asian American actress and an Asian American female spectator, especially in encountering the production of hypersexuality for Asian women.
Perspective: Human immunodeficiency virus infection in children
Authors: Epstein Leon G.
Published: June 2005

Epidemiologic studies indicate that the number of women and children with human immunodeficiency virus (HIV) infection will continue to increase in the next decade. The impact of this aspect of the AIDS pandemic, including increased infant mortality, will be greatest in developing nations. The biologic properties of HIV, a lentivirus, complicate the strategies to alter the course of the pandemic. A long asymptomatic interval between initial infection and the onset of clinical disease, the ability of HIV to evade immune clearance, and the propensity for rapid mutation and selection of viral variants all favor survival of the virus over the host.
Estimates of body fatness in infancy and childhood
Authors: Davies Peter S. W.
Published: June 2005

Body composition estimates in infants and children are difficult largely due to ethical and practical reasons. However, the use of H218O as a tracer for the calulation of total body water allows the noninvasive estimation of fat‐free mass (FFM) and fat mass (FM) in the pediatric population. Body fatness was estimated on 244 occasions in infants and children 0.1 to 3.99 years of age. The mean percentage body fatness in the first year of life is similar to previously published theoretical reference data. During childhood, however, the reference data were considerably below current estimates of body fatness. This may be evidence to support the hypothesis that there has been a secular trend in levels of body fatness in children in recent years. © 1992 Wiley‐Liss, Inc.
Dermatoglyphic affinities among the Telugu populations with contrasting ethnohistorical backgrounds
Authors: Reddy B. Mohan , Reddy P. Chengal
Published: June 2005

Using 22 finger dermatoglyphic variables (radial and ulnar ridge counts on each of the 10 fingers, total number of whorls and total number of loops per individual), affinities among the five endogamous populations of Andhra Pradesh with contrasting ethnohistorical backgrounds were examined. The samples constitute rolled fingerprints of 1,334 individuals of all ages, 736 males and 598 females, and were drawn from the three southern districts of Andhra Pradesh. Univariate analysis of variance, cluster analysis of Mahalanobis' D2‐values, and stepwise discriminant analysis were employed to study the extent of population heterogeneity and nature of relationships among them. The observed dermatoglyphic affinities conform to the known ethnohistorical and geographical backgrounds. The smallest set of 9 most discriminating variables gives the best configuration expected under ethnohistorical backgrounds. Addition of more variables, although further augmenting the dispersion among the group centroids, distrots the picture of known ethnohistorical relatiohships. © 1992 Wiley‐Liss, Inc.
Lactation, seasonality, and mother's postpartum weight change in Bangladesh: An analysis of maternal depletion
Authors: Miller Jane E. , Rodríguez Germán , Pebley Anne R.
Published: June 2005

Longitudinally collected data from rural Bangladesh was used to investigate the effects of lactation, reproductive patterns, and seasonality on maternal weight and postpartum weight change. Results of multivariate analyses demonstrate that weight change exhibits a strong seasonal pattern, with losses in winter (December through March) and the rainy season (July through November) and gains in other months. The rate of weight loss peaks between 5 and 9 months postpartum, declines to near zero by 16 months postpartum, and becomes positive thereafter. However, season and duration interact, so that women who reach the stage of most intensive nutritional demand at a time of low food supply relative to energy output lose considerably more weight than women who reach that stage when food supplies are more adequate. Currently lactating women lose weight more rapidly than nonlactating women. Weight loss is slower among women with low initial weight. Prior reproductive patterns are associated with both weight at the time of conception and weight gain during pregnancy, which together determine weight at the beginning of the lactation interval. Each additional birth is associated with a decrease of 280 g in weight at conception, whereas interpregnancy intervals of < 18 months are associated with an 800‐g deficit at the time of that conception compared to longer intervals. Weight gain during pregnancy is greater among women with high parity, short interpregnancy intervals, and lower weight at conception, but not enough to compensate for the prepregnancy deficit. © 1994 Wiley‐Liss, Inc.
Segregation and linkage analyses of a large pedigree with hypertriglyceridemia
Authors: Namboodiri K. K. , Elston R. C. , Hames C. , Murphy Edmond A.
Published: June 2005

Blood, urine, and saliva samples were obtained from 100 members (42 males and 58 females) of a large family with an increased incidence of cardiac illness to study the mode of genetic transmission of hyperlipidemia, and the linkage relations of this trait with polymorphic markers. Total cholesterol, triglycerides, and lipoprotein Svedberg fractions were determined, the atherogenic index was computed, and 30 markers, including 27 polymorphic ones, were determined.

The fit of one distribution and mixtures of two and three distributions, on both the original and the logarithmic scale, were examined for each quantitative trait. Triglyceride levels showed a significantly better fit to a mixture of two lognormal distributions than to a single lognormal distribution. Triglycerides showed the highest proportion of variance accountable by genetic transmission (74.9%), followed by cholesterol (52.1%); these two traits were chosen for major gene pedigree analyses. Hypertriglyceridemia gave a good fit to an autosomal dominant mode of transmission, the minimum probability of miclassification being 9.3%. From a bivariate analysis of these two variables the linear function that best separates the two groups was derived and the minimum percentage of misclassification for this function was found to be 6.8%.

Linkage analysis between the possible major locus for elevated triglycerides and the 27 polymorphic markers indicated no significant lod scores; but a positive lod score of 0.73 was obtained with pepsinogen, at equal male and female recombination fractions of 0.1. More data are needed to confirm or deny this possible linkage.
Morquio‐like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB
Authors: Arbisser Amir I. , Donnelly Kathleen A. , Scott Charles I. , DiFerrante Nicola , Singh Jagat , Stevenson Roger E. , Aylesworth Arthur S. , Howell R. Rodney , Opitz J. M.
Published: June 2005

A 14‐year‐old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. β‐Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine‐6‐sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a β‐galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).
Replacement therapy for inherited enzyme deficiency: Liver orthotopic transplantation in Niemann‐Pick disease type A
Authors: Daloze Pierre , Delvin Edgard E. , Glorieux Francis H. , Corman Jacques L. , Bettez Paul , Toussi Tamouresse , Opitz J. M.
Published: June 2005

Liver homotransplantation was attempted as replacement therapy in a 2‐year‐old patient with near total absence of sphingomyelinase activity typical of Niemann‐Pick disease type A. Satisfactory function of the graft was observed until the death of the recipient from respiratory complication 2 years after transplantation. The clinical stigmata of the disease became less severe during the first 6 months after transplantation, with no further improvement thereafter. Sphingomyelinase activity was restored to near normal levels in serum, was present in cerebrospinal fluid and was maintained in the graft at normal or supranormal levels. No accumulation of sphingomyelin was observed in the transplanted organ as evaluated by histopathological and chromatographic studies. These findings support the interest of organ transplantation for long‐term enzyme replacement in Niemann‐Pick disease type A and similar lysosomal deficiencies.
Prenatal diagnosis of renal anomalies
Authors: Kaffe Sara , Rose Judith S. , Godmilow Lynn , Walker Barbara A. , Kerenyi Thomas , Beratis Nicholas , Reyes Pilar , Hirschhorn Kurt , Karp L. E.
Published: June 2005

Within the past 24 months, we have performed prenatal diagnostic studies in 4 pregnancies known to be at risk for well‐described genetic syndromes involving renal abnormalities, ie, Meckel syndrome, Roberts syndrome, and bilateral renal agenesis. The diagnostic techniques utilized were ultrasonographic scanning (B‐mode and grey scale), biochemical assays, and radiographic evaluation. The ultrasound finding common to the 3 affected cases was extreme oligohydramnios, which we considered indirect evisdence that renal anomalies were present. The ultrasound scans of the fetuses affected with Meckel and Roberts syndromes demonstrated anechoic cystic spaces in the abdomen, representing the enlarged dysplastic cystic kidneys. An encephalocele was well documented by B‐mode scan in the fetus with Meckel syndrome. The absence of normal limbs in the Roberts syndrome was evident on serial grey scale scans of the fetus. Biochemical and radiographic studies provided results consistent with the suspected diagnoses. The importance of providing genetic counseling and prenatal diagnosis to families at risk is emphasized.
The Neu‐Laxova syndrome—a distinct entity
Authors: Lazjuk Gennady I. , Lurie Iosif W. , Ostrowskaja Teresa I. , Cherstvoy Eugeny D. , Kirillova Irena A. , Nedzved Michael K. , Usoev Sergei S. , Optiz John M.
Published: June 2005

We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povyšilova et al [3]. The above‐mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym “the Neu‐Laxova syndrome.” Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu‐Laxova syndrome is apparently transmitted as an autosomal recessive trait.
The determinants of mothers' knowledge of the Down syndrome before genetic counseling: Part II
Authors: Seidenfeld M. J. , Braitman A. , Antley R. M. , Opitz John M.
Published: June 2005

Mothers coming for genetic counseling because they have an infant with the Down syndrome (DS) vary in their amount of knowledge about the cause, recurrence risk, and options for dealing with the recurrence risk. The purpose of this work has been to determine some predictors of the variability in mothers' knowledge of the DS before coming to genetic counseling.

Data were collected before counseling through a detailed interview concerning mothers' knowledge of the DS, their demographic background, fertility plan, and attitude toward family planing. These data were “reduced”, by multiple‐regression analysis, to 7 variables used in a prediction equation for mothers' level of pre‐knowledge attainment. These variables were then used to construct a model which was tested by path analysis.

Results of analyses showed that about 2/3 of the variance in mothers' pre‐knowledge of the DS could be accounted for by 5 independent variables: 1) time from diagnosis to counseling session, 2) date of counseling session, 3) nonreporting of emotional upset, 4) education‐occupational status (EOS), and 5) utilization of birth control methods.

These findings led to the conclusion that what occurs before counseling is of importance for the outcome of genetic counseling, as measured by the genetic information acquired by the counselees. Some precounseling precedures are suggested on how genetic counselors might be able to gain more control over the important factors that occur before actual counseling.
The IVIC syndrome: A new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Authors: Arias Sergio , Penchaszadeh Víctor B. , Pinto‐Cisternas Juan , Larrauri Sorne , Opitz John M. , Opitz John M.
Published: June 2005

The IVIC syndrome is an autosomal dominant condition affecting mainly the upper limbs. It is described from 19 living members of one family of mostly Caucasoid descent; it came to Venezuela from the Canary Islands 140 years ago. The new mutation appeared six generations ago. It has complete penetrance and wide expressivity for a radial ray defect which may vary from an almost normal thumb to a severely malformed upper limb. When present, the thumb has a long/slender metacarpal and a short distal phalanx, reflected in a typical metacarpophalangeal (MP) pattern profile. Anthropometry reveals delayed growth in the forearms, clavicles, and cranium during adolescence, and permanently in the spine; the maturation of the face, tibiae, and feet is normal. The radial carpal bones are always affected, some being still hypoplastic at advanced ages. Constant palmar dermatoglyphic anomalies are a high a‐b ridge count, a distally placed or absent t triradius, and an increased frequency of patterns in the second interdigital area. Extraocular muscles are involved almost always, producing strabismus. Hearing is bilaterally impaired due to a mixed congenital loss, either total or partial. Mild thrombocytopenia and leukocytosis are present before the age of 50 years. There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. The possible pathogenetic relationship to the thalidomide embryopathy and to the Holt‐Oram syndrome, among others, is discussed.
Possible autosomal‐recessive ocular coloboma
Authors: Pagon Roberta A. , Kalina Robert E. , Lechner David J. , Opitz John M.
Published: June 2005

Ocular coloboma as an isolated anomaly often is inherited as an autosomal dominant trait. Possible autosomal recessive inheritance is suggested by the presence of colobomatous malformations in a brother and sister whose parents have apparently normal eyes. Possible genetic heterogeneity of isolated ocular coloboma makes genetic counseling in sporadic cases difficult since cases may be due to autosomal dominant and autosomal recessive mutations and non‐genetic causes.
Occurrence of down syndrome and human sexual behavior
Authors: Milstein‐Moscati Iva , Becak Willy , Opitz John M.
Published: June 2005

We analyzed the sexual habits of 80 mothers of normal children and of 33 mothers of children with the Down syndrome (DS). The data were obtained through the psychological interview technique. Unusually long intervals between intercourse at the time of conception were reported more frequently by mothers of DS children. Independent of the mother's age there was an association between the incidence of DS and long intervals between intercourse.
Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: New hereditary syndrome?
Authors: Lisker Rubén , García‐Ramos Guillermo , de la Rosa‐Laris Carlos , Díaz‐Mitoma Francisco , Opitz John M.
Published: June 2005

We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of several motor nerves was slow, and although no sensory abnormalities were present, sural nerve biopsy revealed severe nonspecific demyelination. No similar patients could be found in the literature and we therefore suggest the possibility that these individuals have a newly recognized hereditary syndrome.
Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth
Authors: Levin L. Stefan , Rosenbaum Kenneth N. , Brady John M. , Dorst John P.
Published: June 2005

Radiologic evaluation of the skeleton and scanning electron microscopic studies of the teeth were performed on an infant boy with a lethal osteogenesis imperfecta (OI) syndrome who died at 10 mo of pneumonia. The skeletal findings included ribs that were focally expanded by fracture calluses, flat vertebral bodies, and wide limb bones. On fractured tooth surfaces, the enamel and dentin were normal as was the dentin calcification front. Although microscopic abnormalities have been noted in teeth from previously reported infants with lethal OI, a few studies also report infants with normal teeth. These differences in dental findings may indicate heterogeneity in OI lethal in infancy. Results of our study indicate that, until the primary biochemical defects in the OI syndromes are elucidated, examination of teeth from other infants with lethal OI and detailed evaluation of other clinical and skeletal features will aid in delineating heterogeneity and variation in expression in lethal OI.
H‐Y antigen generating and receptor systems in abnormal sexual development
Authors: Moreira‐Filho C. A. , Frota‐Pessoa O. , Vianna‐Morgante Angela M. , Chu T. H. , Bisi H. , Gollop T. R. , Opitz John M.
Published: June 2005

This paper reports data from one case of XY gonadal dysgenesis and one case of XY mixed gonadal dysgenesis. Their H‐Y antigen expression was determined on peripheral blood leukocytes and on gonad‐derived fibroblasts. The former case was found to be H‐Y negative while the latter was H‐Y positive. The origin of these disorders is discussed in terms of mutations affecting the H‐Y antigen generating and receptor systems.
Inheritance of posterior choanal atresia
Authors: Qazi Qutub H. , Kanchanapoomi Rungruang , Beller Eva , Collins Robert
Published: June 2005

Posterior choanal atresia (PCA) was observed in a brother and sister and their paternal aunt from a Yemenite family in which several cousin marriages had taken place. Such an occurrence may be compatible with autosomal recessive inheritance. In some cases PCA evidently is an autosomal dominant trait. However, its mostly sporadic occurrence with sex preference suggests that multifactorial determination may play an important role.
The cytogenetic controversy in the Prader‐Labhart‐Willi syndrome
Authors: Kousseff Boris G.
Published: June 2005

A patient with Prader‐Labhart‐Willi syndrome (PLWS) was found to have mosaic partial trisomy 15: 46,XY/47,XY,+ del(15) (pter→q1.3:) in both lymphocytes and fibroblasts. Thus, another novel aberration is added to the spectrum of chromosome abnormalities seen in this syndrome. The spectrum includes deletion of the short arm of chromosome 15, interstitial deletion of 15q1.2, inverted duplication of 15p (tetrasomy 15p), partial trisomy 15 different from that encountered in this patient, and a variety of aberrations involving other chromosomes. A hypothesis that the chromosome aberrations are due to a presumed gene for the PLWS may have merit and could be tested in the laboratory by exposing chromosomes of patients with PLWS to mutagens to search for secondary chromosome derangements.
The Neu‐Laxova syndrome: Comments on syndrome identification
Authors: Fitch Naomi , Resch Lothar , Rochon Louise
Published: June 2005

We describe an infant with the Neu‐Laxova syndrome. Some new guidelines for syndrome identification are presented, using this syndrome as an example.
Melnick‐Needles syndrome: Indication for an autosomal recessive form
Authors: ter Haar Ben , Hamel Ben , Hendriks Jan , de Jager Jan , Opitz John M.
Published: June 2005

We describe three patients with bone changes and the facial characteristics of the Melnick‐Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. The MNS literature also suggests a high frequency of associated anomalies, especially cardiopulmonary malformations. The distribution of the affected relatives, consanguinity of one pair of parents, and absence of similar symptoms in parents and other relatives makes autosomal recessive inheritance of the trait in this family a definite possibility. This is of great importance in genetic counseling, particularly of sporadic cases.
Rh isoimmunization related to amniocentesis
Authors: Murray Jeffrey C. , Karp Laurence E. , Williamson Roger A. , Cheng Edith Y. , Luthy David A. , Opitz John M.
Published: June 2005

We report on the incidence of Rh isoimmunization after genetic amniocentesis at our institution. In 115 Rh negative women who underwent amniocentesis and subsequently delivered Rh positive infants, there were 4 (3.4%) sensitizations before birth. This was significantly greater than the 1.5% rate of gestational sensitization found in pooled populations of women who did not undergo amniocentesis. We also noted a significant increase in the number of sensitizations that occurred before 28 weeks. The results were consistent with those of previous studies of this issue, and are discussed in relation to current policies for managing Rh negative women who have second trimester amniocentesis.
Subsequent reproductive outcome in couples with repeated pregnancy loss
Authors: FitzSimmons Jack , Jackson Douglas , Wapner Ronald , Jackson Laird , Opitz J. M.
Published: June 2005

While the role of cytogenetic study in couples with repeated pregnancy loss is well‐established, little information is available for counseling these couples concerning future reproductive outcome. Couples evaluated by chromosome analysis for recurrent abortion between 1972 and 1979 were contacted by phone in 1981. Of those studied cytogenetically, 195 couples (50.1%) could be located, and information concerning outcome of subsequent pregnancies were obtained. Couples (91) with two consecutive pregnancy losses at the time of initial investigation had a 31.3% subsequent abortion rate, but most (68%) had at least one liveborn child. The rate of infertility following evaluation was slightly increased (18.7%), but that of prematurity (11.2%) and congentital anomalies (2.5%) was not. In contrast, couples with ≥3 consecutive losses (84) experienced abortion in 45.7% of subsequent pregnancies, and only 54.8% of them eventually had a liveborn child. Again, the rate of infertility was increased (26.2%), but that of prematurity (10%) and congenital defects (3.2%) was not. Nine couples in which one individual was found to have a chromosome abnormality (two inversions and seven translocations) were considered separately. Of these, seven couples had nine liveborn offspring. Amniocentesis was performed in eight cases, with karyotypes showing a balanced translocation identical to that of the parent in 2. All children were phenotypically normal.
Variable patterns of malformation in the mouse fetal hydantoin syndrome
Authors: Finnell Richard H. , Chernoff Gerald F.
Published: June 2005

Controversy over the existence of a fetal hydantoin syndrome continues in medical literature despite numerous recent clinical studies describing additional patients with a characteristic pattern of abnormalities. Resistance to its acceptance as a clinical entity seems to stem from the variability of the component malformations seen in this syndrome. To examine this variability in a controlled experimental situation, we utilized data obtained in previously reported studies of a mouse model of the fetal hydantoin syndrome.

In the mouse, prenatally exposed fetuses had congenital anomalies similar to those observed in the human syndrome. In terms of overall frequency of malformation there were no differences among three inbred mouse strains. However, when considering the individual rates of the 11 most common malformations, considerable differences were noted among the strains. These strain differences in the pattern of malformations appear to be related to genotypic differences in susceptibility to specific malformations. These results provide one possible explanation for the variability observed in the human fetal hydantoin syndrome.
The fetal valproate syndrome
Authors: DiLiberti John H. , Farndon Peter A. , Dennis Nicholas R. , Curry Cynthia J. R.
Published: June 2005

We evaluated seven children who had been exposed to sodium valproate (or valproic acid) in utero. A consistent facial phenotype was observed in all seven in addition to other birth defects in four. The facial changes consisted of epicanthal folds which continued inferiorly and laterally to form a crease or groove just under the orbit, flat nasal bridge, small upturned nose, long upper lip with a relatively shallow philtrum, a thin upper vermillion border, and downturned angles of the mouth. Hypospadias, strabismus, and psychomotor delay were found in two males; two children had nystagmus and two had low birth weight.
Ehlers‐Danlos syndrome IV due to a novel defect in type III procollagen
Authors: Pyeritz Reed E. , Stolle Catherine A. , Parfrey Nollaig A. , Myers Jeanne C.
Published: June 2005

Ehlers‐Danlos syndrome type IV (EDS IV) is characterized by variable changes in the skin, arterial fragility, bowel perforation, minimal joint involvement, and either autosomal recessive or autosomal dominant inheritance. The unifying biochemical abnormality is a deficiency of type III collagen; all patients studied thus far have shown a defect in either synthesis or in secretion of type III procollagen. We report on an adolescent boy who inherited EDS IV from his father and who developed a spontaneous subclavian artery aneurysm. In vitro studies of collagen production in dermal fibroblasts showed normal amounts of pro α1 (III) messenger RNA and synthesis and secretion of nearly equal amounts of normal and of structurally abnormal pro α1(III) monomers. This patient is biochemically distinct from previous cases of EDS IV and is likely heterozygous for a mutation that results in an aberrant type III procollagen that is particularly susceptible to protease degradation.
Uncomplicated familial hypospadias: Evidence for autosomal recessive inheritance
Authors: Frydman Moshe , Greiber Chaim , Cohen Herman A. , Opitz John M. , Reynolds James F.
Published: June 2005

Uncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.
Bilateral pulmonary agenesis: Association with the hydrolethalus syndrome and review of the literature from a developmental field perspective
Authors: Toriello Helga V. , Bauserman Stephen C. , Opitz John M. , Reynolds James F.
Published: June 2005

Only a few cases of bilateral pulmonary agenesis have been reported. Recently we saw such a case in an infant with the hydrolethalus syndrome. This observation seems to indicate that bilateral pulmonary agenesis is a severe expression of a developmental field defect that usually is represented by abnormal lung lobation or hypoplasia. The previously reported cases are discussed from the perspective of the developmental field concept.