bluuebunny/crossref_metadata_2025 huggingface dataset:
Dynamic Server Allocation for Queueing Networks with Flexible Servers
Authors: Andradóttir Sigrún , Ayhan Hayriye , Down Douglas G.
Published: January 2004

This paper is concerned with the design of dynamic server assignment policies that maximize the capacity of queueing networks with flexible servers. Flexibility here means that each server may be capable of performing service at several different classes in the network. We assume that the interarrival times and the service times are independent and identically distributed, and that routing is probabilistic. We also allow for server switching times, which we assume to be independent and identically distributed. We deduce the value of a tight upper bound on the achievable capacity by equating the capacity of the queueing network model with that of a limiting deterministic fluid model. The maximal capacity of the deterministic model is given by the solution to a linear programming problem that also provides optimal allocations of servers to classes. We construct particular server assignment policies, called generalized round-robin policies, that guarantee that the capacity of the queueing network will be arbitrarily close to the computed upper bound. The performance of such policies is studied using numerical examples.
Optimal Policies and Approximations for a Serial Multiechelon Inventory System with Time-Correlated Demand
Authors: Dong Lingxiu , Lee Hau L.
Published: January 2004

Since Clark and Scarf's pioneering work, most advances in multiechelon inventory systems have been based on demand processes that are time independent. This paper revisits the serial multiechelon inventory system of Clark and Scarf and develops three key results. First, we provide a simple lower-bound approximation to the optimal echelon inventory levels and an upper bound to the total system cost for the basic model of Clark and Scarf. Second, we show that the structure of the optimal stocking policy of Clark and Scarf holds under time-correlated demand processes using a Martingale model of forecast evolution. Third, we extend the approximation to the time-correlated demand process and study, in particular for an autoregressive demand model, the impact of lead times and autocorrelation on the performance of the serial inventory system.
Decompositions, Network Flows, and a Precedence Constrained Single-Machine Scheduling Problem
Authors: Margot François , Queyranne Maurice , Wang Yaoguang
Published: January 2004

We present an in-depth theoretical, algorithmic, and computational study of a linear programming (LP) relaxation to the precedence constrained single-machine scheduling problem 1|prec|ΣjwjCj to minimize a weighted sum of job completion times. On the theoretical side, we study the structure of tight parallel inequalities in the LP relaxation and show that every permutation schedule that is consistent with Sidney's decomposition has total cost no more than twice the optimum. On the algorithmic side, we provide a parametric extension to Sidney's decomposition and show that a finest decomposition can be obtained by essentially solving a parametric minimum-cut problem. Finally, we report results obtained by an algorithm based on these developments on randomly generated instances with up to 2,000 jobs.
Optimal Policies for Inventory Systems with Priority Demand Classes
Authors: Frank Katia C. , Zhang Rachel Q. , Duenyas Izak
Published: January 2004

We consider a periodic review inventory system with two priority demand classes, one deterministic and the other stochastic. The deterministic demand must be met immediately in each period. However, the units of stochastic demand that are not satisfied during the period when demand occurs are treated as lost sales. At each decision epoch, one has to decide not only whether an order should be placed and how much to order, but also how much demand to fill from the stochastic source. The firm has the option to ration inventory to the stochastic source (i.e., not satisfy all customer demand even though there is inventory in the system).

We first characterize the structure of the optimal policy. We show that, in general, the optimal order quantity and rationing policy are state dependent and do not have a simple structure. We then propose a simple policy, called (s, k, S) policy, where s and S (ordering policy) determine when and how much to order, while k (rationing policy) specifies how much of the stochastic demand to satisfy. We report the results of a numerical study, which shows that this simple policy works extremely well and is very easy to compute.
Out of Sight, Out of Sync: Understanding Conflict in Distributed Teams
Authors: Hinds Pamela J. , Bailey Diane E.
Published: January 2004

The bulk of our understanding of teams is based on traditional teams in which all members are collocated and communicate face to face. However, geographically distributed teams, whose members are not collocated and must often communicate via technology, are growing in prevalence. Studies from the field are beginning to suggest that geographically distributed teams operate differently and experience different outcomes than traditional teams. For example, empirical studies suggest that distributed teams experience high levels of conflict. These empirical studies offer rich and valuable descriptions of this conflict, but they do not systematically identify the mechanisms by which conflict is engendered in distributed teams. In this paper, we develop a theory-based explanation of how geographical distribution provokes team-level conflict. We do so by considering the two characteristics that distinguish distributed teams from traditional ones: Namely, we examine how being distant from one's team members and relying on technology to mediate communication and collaborative work impacts team members. Our analysis identifies antecedents to conflict that are unique to distributed teams. We predict that conflict of all types (task, affective, and process) will be detrimental to the performance of distributed teams, a result that is contrary to much research on traditional teams. We also investigate conflict as a dynamic process to determine how teams might mitigate these negative impacts over time.
Organizational Culture and Effectiveness: Can American Theory Be Applied in Russia?
Authors: Fey Carl F. , Denison Daniel R.
Published: January 2004

This paper examines the link between organizational culture and effectiveness for foreign-owned firms operating in Russia. Beginning with a model of organizational culture developed in the United States, the paper presents a multimethod analysis of culture and effectiveness in a transition economy. We argue that effectiveness in Russia relies more on adaptability and flexibility than it does in the United States. Furthermore, the legacy of the Communist era forces firms in Russia to deal with a workforce with a unique time perspective and a unique set of subcultures that often undermine attempts at coordination and integration. We first explore these ideas using survey data on 179 foreign-owned firms operating in Russia and compare the results to those obtained for firms in the United States. We then present four case studies designed to ground the results in the Russian context, and to document cultural dynamics not captured by the model.
The Role of Instrumental and Expressive Social Ties in Employees' Perceptions of Organizational Justice
Authors: Umphress Elizabeth Eve , Labianca Giuseppe (Joe) , Brass Daniel J. , Kass Edward (Eli) , Scholten Lotte
Published: January 2004

We argue that employees' organizational justice perceptions are, in part, influenced by whom they associate with in the workplace. Consequently, we examine the link between different types of social ties and the interpersonal similarity of employees' perceptions of interactional, procedural, and distributive justice through a social network study in a division of a Fortune 500 firm. We predicted and found that social ties influence perceptions of justice to different extents, depending on the type of justice assessed. Expressive ties were associated with greater similarity in coworkers' perceptions than instrumental ties in the most affect-inducing justice perceptions, perceptions of interactional justice. Our findings suggest that the opinions held by an individual's coworkers influence others' justice perceptions, especially when justice is ambiguous and affect inducing, and that different justice perceptions may be transmitted via different types of social ties.
Tolerance and Pragmatism in the Netherlands: Euthanasia, Coffeeshops and Prostitution in the ‘Purple Years’, 1994–2002
Authors: Pakes Francis
Published: January 2004

The Netherlands is traditionally regarded as a tolerant nation. In criminal justice matters such tolerance was usually evidenced by low prison rates, and a rehabilitation and social welfare-oriented criminal justice system. In other words, the tolerance had a focus on wrongdoers. During the ‘purple years' (1994–2002) when a neoliberal government that consisted of the Labour Party and two liberal democratic parties, took office, a shift in tolerance emerged. New legislation included the legalisation of euthanasia and of brothels, and same sex marriages were authorised too. Meanwhile the policy of soft drugs decrimin-alisation via coffeeshops has remained intact. In a climate of rising prisoner numbers, we observe an increased level of tolerance towards certain lifestyles or life choices. This article discusses the causes and effects of these developments.
Community-Oriented Policing in a Multicultural Milieu: The Case of Loitering and Disorderly Conduct in East Arlington, Texas
Authors: Eve Raymond A. , Rodeheaver Daniel G. , Eve Susan Brown , Hockenberger Maureen , Perez Ramona , Burton Ken , Boyd Larry , Phillips Sue , Walker Sharon L.
Published: January 2004

For the past several decades, an innovation in policing, often controversial, has been emerging in the US. Specifically, community-oriented policing has been used to supplement more traditional forms of police work in preventing and reducing crime. This paper examines a community-oriented policing programme implemented in Arlington, Texas. A national demonstration grant was awarded by the U.S. Department of Justice, Office of Community Oriented Policing Services (COPS). The purpose of the COPS project reported here was to assess a policing problem that, rather than actual crime, was ultimately about (1) multicultural conflict, (2) fear of crime and (3) the effectiveness of this community policing programme in combating both actual incidences and perceptions of crime. We draw several conclusions about the ability to utilise and apply the community policing model and our research findings in other locations. Furthermore, the findings of this paper should have broad utility of international scope.
Pre-Employment Psychological Testing of Police Officers: The MMPI and the IPI as Predictors of Performance
Authors: Simmers Kimberly D. , Bowers Thomas G. , Ruiz James M.
Published: January 2004

There are strong and compelling reasons for the careful selection of police officers, and careful assessment of candidates includes psychological assessment. The most commonly used instruments include the MMPI, MMPI-2 and the IPI. To assess the relative relationship of validity findings for the respective tests, 18 studies, which empirically related test findings to later police functioning, were reviewed in this study. The findings indicated both MMPI versions and the IPI provide modest correlations and effect size relationships to police behaviour (rs = 0.17 and 0.28, respectively). In addition, the IPI scores provided significantly higher findings along these lines. There continues to be a need for additional studies, as these results are based on only 18 studies, but the findings to date indicate better prediction of police job performance with the IPI. These results argue for increased use of the IPI, at times in combination with the MMPI-2, with increased attention to the normative samples and with increased assessment of the police, academy and corrections populations.
Explaining the Gender Difference in Self‐Reported Suicide Attempts: A Nationally Representative Study of Norwegian Adolescents
Authors: Wichstrøm Lars , Rossow Ingeborg
Published: December 2003

Predictors of self‐reported suicide attempts were studied cross‐sectionally and prospectively in order to discern which variables may account for the gender difference in such reports. A representative sample of Norwegian students (N= 9,679) in grades 7–12 were followed from 1992 to 1994. More girls (10.4%) than boys (6.0%) reported a previous attempt and more girls (3.3%) than boys (1.9%) reported an attempt during the study period. The gender difference in previous suicide attempts was significantly reduced when depressed mood was controlled, and was no longer significant when disordered eating was included. There was no gender difference in future attempts when previous attempts, depressed mood, physical appearance, pubertal timing, and romantic involvement were controlled. Girls' higher level of risk factors may account for their higher level of self‐reported nonfatal suicidal behavior.
Sexual Assault History and Suicidal Behavior in a National Sample of Women
Authors: Ullman Sarah E. , Brecklin Leanne R.
Published: December 2003

This study examined demographic and psychosocial correlates of suicidal ideation and suicide attempts in women with histories of sexual assault in childhood and/or adulthood identified from a national sample of women. Multivariate analyses showed that women with histories of sexual assault in both childhood and adulthood reported significantly greater odds of lifetime suicide attempts, controlling for demographic factors and other psychosocial characteristics. As predicted, younger age (marginal), stressful life events (marginal), depression, PTSD, and alcohol dependence symptoms were also significantly associated with suicidal ideation. Furthermore, number of lifetime traumatic events and depression were each associated with lifetime odds of suicide attempts. Implications for studying the role of sexual trauma and other psychosocial factors in relation to women's suicidal behavior are discussed.
Dialectical Behavior Therapy Adapted for Suicidal Adolescents
Authors: Rathus Jill H. , Miller Alec L.
Published: December 2003

We report a quasi‐experimental investigation of an adaptation of Dialectical Behavior Therapy (DBT) with a group of suicidal adolescents with borderline personality features. The DBT group (n = 29) received 12 weeks of twice weekly therapy consisting of individual therapy and a multifamily skills training group. The treatment as usual (TAU) group (n = 82) received 12 weeks of twice weekly supportive‐psychodynamic individual therapy plus weekly family therapy. Despite more severe pre‐treatment symptomatology in the DBT group, at post‐treatment this group had significantly fewer psychiatric hospitalizations during treatment, and a significantly higher rate of treatment completion than the TAU group. There were no significant differences in the number of suicide attempts made during treatment. Examining pre‐post change within the DBT group, there were significant reductions in suicidal ideation, general psychiatric symptoms, and symptoms of borderline personality. DBT appears to be a promising treatment for suicidal adolescents with borderline personality characteristics.
Suicide Survivors' Perceptions of the Treating Clinician
Authors: Peterson Erin M. , Luoma Jason B. , Dunne Edward
Published: December 2003

Seventy‐one suicide survivors were surveyed about their perceptions of the clinicians who were treating their loved one at the time of death. Survivors provided information regarding their perceptions and attitudes toward clinician behaviors before and after the suicide and their perceptions of helpful and troubling aspects of clinician behaviors. Results indicated that survivors share a number of common opinions regarding the mental health care providers treating their loved ones. Several differences existed between survivors who consider lawsuits against mental health care providers versus those who do not. The implications of these findings for clinical practice, legal issues, surviving suicide, and future research are discussed.
Is Evaluative Research on Youth Suicide Programs Theory‐Driven? The Canadian Experience
Authors: Breton Jean‐Jacques , Boyer Richard , Bilodeau Henriette , Raymond Sylvaine , Joubert Natacha , Nantel Marie‐Andrée
Published: December 2003

An in‐depth review found that only 15 Canadian youth suicide programs had been evaluated over the last decades. Most of these were conducted in schools; general education on suicide was the most common strategy used. The descriptions of the programs were incomplete, and their theoretical bases never presented. All evaluations looked at program effects in accordance with the predominant experimental paradigm in evaluative research. Only two of the programs led to a reduction in suicidal behavior. Future evaluative research should place greater emphasis on the content of programs, especially their theoretical bases.
Numerical Modeling of Differential Kinetics in the Asymmetric Hydrogenation of Acetophenone by Noyori's Catalyst
Authors: Hartmann Rudolf , Chen Peter
Published: December 2003

A combination of numerical integration of the rate equations and experimental measurement of the time‐dependence of rates rather than concentrations is described for the analysis of the catalytic cycle by which Noyori's catalyst, trans‐RuCl2[(S)‐binap][(S,S)‐dpen], hydrogenates acetophenone. The method is simpler in practice than usual kinetic methods and yields furthermore rate constants for activation, dihydrogen cleavage, and hydride transfer to substrate under realistic catalytic conditions. The specific results for the asymmetric hydrogenation of acetophenone show that the turnover‐limiting step changes from dihydrogen cleavage to hydride transfer if the H2 pressure is increased, but also during the course of the reaction when the hydrogenation is performed under typical conditions.
Donor Atom‐Stabilized Aluminum Alkyls as Cocatalysts for the Ziegler–Natta Polymerization of Propene
Authors: Eisenhardt Andrea , Heuer Björn , Kaminsky Walter , Köhler Katrin , Schumann Herbert
Published: December 2003

A number of organoaluminum compounds, stabilized with intramolecular nitrogen‐ or oxygen‐donor functions, have been used as cocatalysts for the MgCl2/TiCl4‐catalyzed homopolymerization of propene as well as for the copolymerization of ethene with propene. The polymerization behavior of these aluminum alkyls was examined at different Al/Ti ratios within the range of 2 to 50 and compared with the reference of triethylaluminum (TEA). Especially the alkyls [2‐(N,N‐dimethylaminomethyl)phenyl]dimethylaluminum (1) and [2‐(N,N‐dimethylaminomethyl)phenyl]diethylaluminum (2) show the highest activities at very low Al/Ti ratios in the homopolymerization of propene, whereas TEA is almost inactive. The species [8‐(N,N‐dimethylamino)naphthyl]dimethylaluminum (4) reaches the highest activity of all examined alkyls and is very close to the highest value obtained with TEA. Bulky iso‐butyl groups at the aluminum center are responsible for the very poor performance of the nitrogen stabilized cocatalysts [8‐(N,N‐dimethylamino)naphthyl]diisobutylaluminum (5) and [2‐(N,N‐dimethylaminomethyl)phenyl]diisobutylaluminum (3). The properties of the polypropenes synthesized with the stabilized organoaluminum species are similar to those produced with TEA but with a distinctly higher molar mass. In the case of 1, it was possible to increase the molar mass by a factor of three. For the copolymerizations, the compounds [2‐(N,N‐diethylaminomethyl)phenyl]diethylaluminum (7) and (2‐methoxybenzyl)diisobutylaluminum (8) were found to be most suitable, producing polymers with significantly higher activities than TEA. For all copolymers two fractions were obtained, one crystalline fraction with a low and an amorphous part with a high amount of comonomer. In both fractions, 7 and 8 provide a higher comonomer incorporation than TEA.
Catalytic Conversions in Water. Part 23: Steric Effects and Increased Substrate Scope in the Palladium‐Neocuproine Catalyzed Aerobic Oxidation of Alcohols in Aqueous Solvents#
Authors: Brink Gerd‐Jan ten , Arends Isabel W. C. E. , Hoogenraad Marcel , Verspui Göran , Sheldon Roger A.
Published: December 2003

The steric influence of substituents on the 2‐ and 9‐positions of phenanthroline in the (2,9‐R2‐1,10‐phenanthroline)palladium(II)‐catalyzed aerobic oxidation of 2‐hexanol was investigated by means of high throughput experimentation. (Neocuproine)Pd(OAc)2 (RCH3) was found to be a highly active catalyst for alcohol oxidation in 1 : 1 water/DMSO mixtures. The catalyst is unique in that it tolerates water, polar co‐solvents and a wide variety of functional groups in the alcohol. Turn‐over frequencies of >1500 h−1 were achieved and a series of alcohols was oxidised with 0.1 to 0.5 mol % of catalyst.
Enzymes in Organic Chemistry, 11:[1] Hydrolase‐Catalyzed Resolution of α‐ and β‐Hydroxyphosphonates and Synthesis of Chiral, Non‐Racemic β‐Aminophosphonic Acids
Authors: Woschek A. , Lindner Wolfgang , Hammerschmidt F.
Published: December 2003

The enantioselective acylation of racemic diisopropyl α‐ and β‐hydroxyphosphonates by hydrolases in t‐butyl methyl ether with isopropenyl acetate as acyl donor is limited by the narrow substrate specificity of the enzymes. High enantiomeric excesses (up to 99%) were obtained for the acetates of (S)‐diisopropyl 1‐hydroxy‐(2‐thienyl)methyl‐, 1‐hydroxyethyl‐ and 1‐hydroxyhexylphosphonate and (R)‐diisopropyl 2‐hydroxypropylphosphonate. The hydrolysis of a variety of β‐chloroacetoxyphosphonates by the lipase from Candida cylindracea and protease subtilisin in a biphasic system gives (S)‐β‐hydroxyphosphonates (ee 51–92%) enantioselectively. (S)‐2‐Phenyl‐2‐hydroxyethyl‐ and (S)‐3‐methyl‐2‐hydroxybutylphosphonates (ee 96% and 99%, respectively) were transformed into (R)‐2‐aminophosphonic acids of the same ee.
Cosegregation of C‐insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
Authors: Li Ronghua , Xing Guangqian , Yan Ming , Cao Xing , Liu Xue‐Zhong , Bu Xingkuan , Guan Min‐Xin
Published: December 2003

Mutations in the mitochondrial DNA have been shown to be one of the most important causes of sensorineural hearing loss. Here, we report the characterization of a large Chinese family (507 members in six generations) with maternally inherited non‐syndromic hearing loss. Members of this family showed variable severity and age‐of‐onset of hearing impairment. In particular, the average age at onset of hearing loss in this family changed from 49 years (generation III) to 3 years (generation VI). Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of a homoplasmic A1555G mutation in the 12S rRNA gene and other nucleotide changes. Of these changes, a C insertion at position 961 in the 12S rRNA gene is of special interest as mutations at this position have been found to be associated with aminoglycoside induced deafness in several genetically unrelated families. These data imply that the C insertion at position 961 in the 12S rRNA gene, acting as a secondary factor, could play a role in the phenotypic expression of the deafness associated A1555G mutation.© 2003 Wiley‐Liss, Inc.
A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly
Authors: Parmar Ramesh C. , Muranjan Mamta N.
Published: December 2003

Congenital double lip is an uncommon developmental abnormality usually affecting the upper lip. We report a 21‐year‐old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The disorder differs from Ascher syndrome and appears to represent a newly recognized syndrome. © 2003 Wiley‐Liss, Inc.
Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?
Authors: Grosso S. , de Cosmo L. , Bonifazi E. , Galluzzi P. , Farnetani M.A. , Loffredo P. , Anichini C. , Berardi R. , Morgese G. , Balestri Paolo
Published: December 2003

Facial hemangioma is usually isolated but its association with craniocervical arterial anomalies and structural brain malformations is well known. The acronym PHACE syndrome (posterior fossa malformation, facial hemangiomas, arterial anomalies, cardiac/aortic anomalies, and eye abnormalities) has been used to indicate that disorder in which brain anomalies are mainly represented by the Dandy–Walker malformation. We report on a 10‐month‐old boy affected by facial hemangioma and a complex cortical dysplasia located in the left frontal region. The lesion was characterized by a deeply infolding pachygyric cortex and a band of gray matter lining the wall of the lateral ventricle. The entire left cerebral hemisphere appeared hypoplastic. No anomalies of the posterior fossa structures or cardiac/aortic malformations were present. An overlapping clinical/pathological pattern was previously reported in another patient with facial hemangioma and cerebrovascular anomalies. These observations seem to indicate that the facial hemangiomas may be associated with disorders of the cortical development. © 2003 Wiley‐Liss, Inc.
Partial duplication 2p as the sole abnormality in two cases with anencephaly
Authors: Thangavelu Maya , Frolich Gary , Rogers David
Published: December 2003

Anencephaly/NTD has been observed in aneuploid and non‐aneuploid individuals. We present two cases of anencephaly diagnosed prenatally with partial duplication of the short arm of chromosome 2 as the sole abnormality. The absence of aneuploidy involving other regions of the genome in these cases, further substantiates suggestions of the existence of a gene or genes on the short arm of chromosome 2 critical in the development of the central nervous system. © 2003 Wiley‐Liss, Inc.
Search for somatic 22q11.2 deletions in patients with conotruncal heart defects
Authors: Rauch Anita , Hofbeck Michael , Cesnjevar Robert , Koch Andreas , Rauch Ralf , Buheitel Gernot , Singer Helmut , Weyand Michael
Published: December 2003

A wide range of clinical variability in patients with 22q11.2 deletions has been demonstrated in numerous studies. Nevertheless, it is still an open question if major genetic factors contribute to clinical expression. Therefore one aim of this study was to investigate, if patients with 22q11.2 deletion and conotruncal heart defects show a “second hit” somatic 22q11.2 deletion in tissue from the conotruncus, heart vessels or thymus. The second aim was to analyse patients with conotruncal heart defects without 22q11.2 deletion in blood cells for somatic deletion mosaicism. We were able to study tissue samples from heart surgery from 23 patients, 9 of whom had 22q11 deletions by FISH analysis on metaphase spreads from peripheral lymphocytes. Analysis of 18 polymorphic markers from the 22q11.2 region in DNA prepared from thymus and/or heart vessels and/or conotruncus tissue and peripheral lymphocytes in each patient did not show any allelic loss. Thus somatic 22q11.2 deletions apparently do not play a major role in conotruncal heart defects in patients with or without germ line 22q11.2 deletion. © 2003 Wiley‐Liss, Inc.
Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants
Authors: Kozma Chahira , Slavotinek Anne M. , Meck Jeanne M.
Published: December 2003

A subtle balanced translocation involving the terminal regions of 1q and 3p was identified in a large family by high‐resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. In this family, segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two types of viable unbalanced complements. The proband inherited the derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A paternal uncle and cousin had the reciprocal rearrangement with a derivative of chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. While profound mental and physical retardation and congenital heart defects were characteristics for both rearrangements, facial dysmorphism was quite distinct for each imbalance. Individuals who had the derivative chromosome 3 had a long face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, a large tip of the nose, long philtrum with thin upper lip, and low set‐ears. In contrast, family members with the derivative of chromosome 1 had a tall forehead with bifrontal narrowing, full and large cheeks, and large simple ears. Since the translocated segments are small and approximately equal in size in this family, it is not surprising that viability was seen in individuals with both types of adjacent‐1 segregation. In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%. © 2003 Wiley‐Liss, Inc.
Canavan disease: Carrier‐frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
Authors: Feigenbaum Annette , Moore Robert , Clarke Joe , Hewson Stacy , Chitayat David , Ray Peter N. , Stockley Tracy L.
Published: December 2003

Canavan disease (CD) is an autosomal recessive progressive neurodegenerative disorder prevalent in the Ashkenazi Jewish (AJ) population. The carrier rate for the most common mutations that cause CD in the AJ population is often quoted as 1:37–1:40. This is not supported by our finding of only two diagnosed cases of CD in the last 20 years in the Toronto AJ population of 160,000 and an estimated birth rate of 1,500–2,000 per year. Therefore, we embarked on a prevalence cross‐sectional screening study to determine the carrier rate of CD in this population. In order to perform low‐cost, high‐throughput population testing for CD using molecular techniques, we first developed a novel molecular assay using multiplex fluorescent allele specific polymerase chain reaction (PCR) to test for the three most common mutations causing CD in the AJ population (A854C, C693A, C914A) and a neutral polymorphism at the site of the C693A mutation. During testing it was noted that individuals who were carriers of the A854C mutation also had a T polymorphism at the site of the C693A mutation (Y231X). We confirmed that in all A854C carriers the 854C mutation was in disequilibrium with the 693T polymorphism, indicating a founder chromosome for the A854C mutation in the AJ population. Twenty‐five carriers were found from 1,423 samples yielding a carrier rate of 1:57, differing from the widely quoted frequency of 1:40 and supporting our observed frequency of disease. © 2003 Wiley‐Liss, Inc.
Immunohistochemical FMRP studies in a full mutated female fetus
Authors: Rifé M. , Nadal A. , Milà M. , Willemsen R.
Published: December 2003

Fragile X syndrome (FXS) is the most common form of inherited mental retardation. Clinical manifestations are due to the absence of the FMRP protein. Affected patients have widely variable phenotypes which are more variable in females than males, presumable due to X inactivation. We report the expression pattern of FMRP in cerebral cortex and ovary in a control and a full‐mutated female fetus. FMRP was expressed in mutated and control fetal tissues, although at different levels and patterns. Control fetal cerebral cortex showed FMRP expression in almost all cells, whereas the full mutation carrier showed FMRP positivity in roughly 50% of cortical cells without any specific pattern. In the ovary samples, FMRP expression was seen in all germ cells surrounded by FMRP‐negative paragranulosa and interstitial cells. The Müllerian epithelium of the fetal Fallopian tube was continuously positive in the control case, whereas the full mutation carrier showed a discontinuous patchy pattern. Expression of homologue proteins FXR1P and FXR2P showed no differences between control and full mutation fetuses. The pattern of FMRP expression in full mutation carrier females is in agreement with a random X‐inactivation in maturing fetal tissues. Immunohistochemical results on cerebral tissues provide a clue for the variation of mental affection among female carriers, depending not only on the number of cells devoid of FMRP, but also on the ultimate destination of those cells in sensitive or more silent location for a proper cerebral development. © 2003 Wiley‐Liss, Inc.
Results of a genome‐wide linkage scan for stuttering
Authors: Shugart Yin Yao , Mundorff Jennifer , Kilshaw James , Doheny Kimberly , Doan Betty , Wanyee Jacqueline , Green Eric D. , Drayna Dennis
Published: December 2003

We performed a linkage study of stuttering using 392 markers distributed across the genome in a series of 68 families identified in the general outbred population of North America and Europe. Standardized diagnosis was performed using recorded samples of both conversation and reading, in which stuttering dysfluencies were scored as percentage of dysfluent words and syllables. Analysis was first performed using non‐parametric methods implemented in GENEHUNTER, where we obtained maximum statistical support for markers of chromosome 18, with a maximum NPL (Sall) of 1.51 at D18S976. The single largest pedigree within our sample (pedigree 0006) alone gave an NPL of 4.72 at D18S976. For fine mapping, we analyzed 18 markers on chromosome 18 across all families using ALLEGRO. Overall NPL (Srobdom) scores >5 were obtained with markers on 18p, and Zlr scores ≥2.5 on 18p and proximal 18q. Furthermore, pedigree 0006 alone gave an NPL (Srobdom) of 5.35. Overall our results suggest chromosome 18 may harbor a predisposing locus for this disorder, and additional genes may exist. Published 2003 Wiley‐Liss, Inc.
The 10q24‐linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype
Authors: Roscioli Tony , Taylor Peter J. , Bohlken Andrew , Donald Jennifer A. , Masel John , Glass Ian A. , Buckley Michael F.
Published: December 2003

In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3. This is only the second detailed report of the clinical features of the SHFM3 linked syndrome in a large pedigree. Within this family the expressivity of the condition ranges from the classical ectrodactyly deformity to partial absence of the thumb and agenesis of the distal tip of the index finger. There is discordant limb severity, with the feet more severely affected than the hands. Two individuals have a nail dysplasia indicating the presence of a minor ectodermal component. A cleft palate was present in one individual. Radiological features of family members include short metacarpals with rounded proximal heads, agenesis of the radial ray, epiphysial coning, and an unusual supernumerary ossicle opposed to the distal phalanx of the left thumb. Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24. A meiotic recombination event enabled exclusion of a maximum of 1.9 Mb of DNA from the previously known critical region thereby narrowing the critical interval to between D10S1265 and D10S222, with the minimal critical region being between D10S1240 and D10S1267. Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly. © 2003 Wiley‐Liss, Inc.
A girl with duplication 17p10‐p12 associated with a dicentric chromosome
Authors: Shaw Christine J. , Stankiewicz Pawel , Christodoulou John , Smith Ellie , Jones Kristi , Lupski James R.
Published: December 2003

We report a 7½‐year‐old girl with an ∼9.5 Mb duplication of proximal 17p. Her clinical features include moderately severe developmental delay, absence of speech, talipes, congenital dislocation of the hips, premature adrenarche, dysmorphic facial features, deep palmar creases, and signs and symptoms of peripheral neuropathy consistent with Charcot–Marie–Tooth disease type 1A (CMT1A). Chromosome analysis revealed a partially duplicated 17p with two centromeres on the derivative chromosome. Fluorescence in situ hybridization (FISH) analysis demonstrated the tandemly duplicated segment spans 17p10‐p12, including the entire Smith–Magenis syndrome (SMS) critical region and a portion of the CMT1A critical region. One breakpoint mapped within the centromere and the second breakpoint mapped within the CMT1A critical region, distal to the PMP22 gene. Microsatellite polymorphism studies showed that the duplicated chromosome is of maternal origin. We compare the clinical features of our patient to those of individuals with partial trisomy of proximal 17p to further delineate the genotype–phenotype correlation associated with segmental duplication of this chromosomal region. © 2003 Wiley‐Liss, Inc.
A case of Costello with parathyroid adenoma and hyperprolactinemia
Authors: Cakir Mehtap , Arici Cumhur , Tacoy Sukran , Karayalcin Umit
Published: December 2003

A 23‐year‐old female with Costello syndrome is presented. She had mental retardation, macrocephalia, “coarse” facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome, and a history of hyperprolactinemia since the age of 16. Her present complaint was weakness and widespread bone‐pain. In routine biochemistry, she had an elevated calcium level of 11.1 (8.6–10.2) mg/dl and her DEXA evaluation was consistent with osteoporosis (vertebra and femur T score <−2.5). High PTH levels, 103 (8–78) pg/ml, suggested presence of a parathyroid adenoma. Tc‐MIBI scintigraphy revealed two focuses of pathological uptake, one located inferior to left lobe of thyroid and the other in the superior left lobe of thyroid gland. After parathyroid adenomectomy, her serum calcium and PTH levels returned to normal values. This is the first case of parathyroid adenoma and hyperprolactinemia in the literature, reported in a patient with Costello syndrome. © 2003 Wiley‐Liss, Inc.
Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome
Authors: Midro Alina T. , Panasiuk Barbara , Tümer Zeynep , Stankiewicz Paweł , Silahtaroglu Asli , Lupski James R. , Zemanova Zuzana , Stasiewicz‐Jarocka Beata , Hubert Ewa , Tarasów Eugeniusz , Famulski Waldemar , Zadrożna‐Tołwińska Barbara , Wasilewska Ewa , Kirchhoff Marie , Kalscheuer Vera , Michalova Kyra , Tommerup Niels
Published: December 2003

The phenotype of Gorlin–Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11‐year‐old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bossing, downward slanting palpebral fissures, mandible prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5‐S4, numerous basal cell nevi, and single basal cell carcinoma. Cytogenetic analysis using high‐resolution banding techniques and fluorescence in situ hybridization (FISH) revealed interstitial chromosome deletion 9q22.32‐q33.2 involving the PTCH gene as a secondary breakage event to a chromosome translocation t(9;17)(q34.1;p11.2)mat. Further FISH studies showed the translocation breakpoint on 9q34.11 maps proximal to ABL, between the BAC clone RP11‐88G17 and the LMX1B gene. The latter gene encodes a transcription factor, in which loss of function mutations are responsible for the nail‐patella syndrome (NPS, #161200 OMIM). Interestingly, some features of our proband (e.g., bilateral patellar dysplasia and abnormal clavicular shape), as well as her healthy sister who carries the same translocation, are also found in patients with NPS. The chromosome 17p11.2 breakpoint maps in the Smith‐Magenis syndrome common deletion region, within two overlapping BAC clones, CTD‐2354J3 and RP11‐311F12. © 2003 Wiley‐Liss, Inc.
Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals
Authors: Stevenson David A. , Anaya Theresa M. , Clayton‐Smith Jill , Hall Bryan D. , Van Allen Margot I. , Zori Roberto T. , Zackai Elaine H. , Frank Gary , Clericuzio Carol L.
Published: December 2003

Individuals with Prader–Willi syndrome (PWS) generally survive into adulthood. Common causes of death are obesity related cor pulmonale and respiratory failure. We report on a case series of eight children and two adults with unexpected death or critical illness. Our data show age‐specific characteristics of PWS patients with fatal or life‐threatening illnesses. Under the age of 2 years, childhood illnesses in general were associated with high fever and rapid demise or near‐demise. Hypothalamic dysfunction likely plays a role in exaggerated fever response, but also perhaps in central regulation of adrenal function. Below average sized adrenal glands were found in three children, which raises the possibility of unrecognized adrenal insufficiency in a subset of individuals with PWS and emphasizes the vital role of autopsy. The tub drowning death of an adult patient could be related to central hypersomnia, which has been reported in PWS. We suggest that increased risk for critical illness be considered in the discussion of anticipatory guidance for the care of infants with PWS. Since a number of children died while hospitalized, particularly close observation of PWS children who are ill enough to warrant hospital admission is recommended. © 2003 Wiley‐Liss, Inc.
New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
Authors: Giampietro Philip F. , Babu Deepti , Koehn Monica A. , Jacobson Daniel M. , Mueller‐Schrader Karla A. , Moretti Cara , Patten Stella F. , Shaffer Lisa G. , Gorlin Robert J. , Dobyns William B.
Published: December 2003

Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X‐linked inheritance pattern. We describe a 14‐year‐old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right‐sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. Brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. Skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. Skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome. © 2003 Wiley‐Liss, Inc.
Longterm follow‐up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history
Authors: Savarirayan Ravi , Boyle Robert J. , Masel John , Rogers John G. , Sheffield Leslie J.
Published: December 2003

We report the longterm clinical and radiological progression in three unrelated patients with the tibia–metacarpal form of chondrodysplasia punctata (CDP‐TM). The patients were followed for 37, 25, and 32 years, respectively. At follow‐up intellectual function was normal, and physical function was well preserved. There was also marked resolution of several significant early radiographic features. The patients attained adult heights of 152, 138, and 148 cm. Two patients had chronic serous otitis media requiring tympanostomy tubes during childhood. One patient suffered persisting back pain related to spinal stenosis and required lumbar laminectomy at the age of 26 years. One patient had hip dysplasia requiring orthopedic surgical intervention. All patients had recurrent patella dislocation. Sterol and very long chain fatty acid profiles, FISH analysis for SHOX gene deletions, blood lymphocyte karyotype, and phytanic acid levels were normal in those tested, and no mutations in arylsulfatase D and E genes were detected. These data suggest that the longterm clinical and functional prognosis in this condition appears to be better than that expected based on initial clinical and radiological findings. © 2003 Wiley‐Liss, Inc.
Hepatic fibrosis in Kabuki syndrome
Authors: Nobili Valerio , Marcellini Matilde , Devito Rita , Capolino Rossella , Viola Laura , Digilio M. Cristina
Published: December 2003

Kabuki (Niikawa–Kuroki) syndrome (KS) is characterized by a distinctive face, mental retardation, growth deficiency, skeletal anomalies, dermatoglyphic abnormalities, palatal anomalies, congenital heart defects, and urogenital malformations. Congenital hepatic abnormalities have been sporadically described in patients with KS from the literature, consisting of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and severe neonatal jaundice. We report here on an additional patient with a congenital abnormality of the liver consisting of hepatic fibrosis. To our knowledge, idiopathic congenital hepatic fibrosis has not been reported in KS. Thus, our observation expands the spectrum of liver malformations found in KS with the inclusion of hepatic fibrosis and supports the evidence that hepatic abnormalities may not be uncommon in KS. Clinician should be advised to search for the specific facial anomalies of KS in patients with syndromic congenital hepatic diseases, and KS should be added to the list of previously recognized multiple congenital anomaly syndromes with hepatic involvement. Due to the frequent association with congenital heart malformations, KS should be considered in the evaluation of patients with neonatal liver disease and cardiac malformation. Due to the expression patterns of Notch genes, involvement of the Notch signaling pathway in the development of heart and liver anomalies in KS should be considered. © 2003 Wiley‐Liss, Inc.
Titelbild: Reversible Switching between Superhydrophilicity and Superhydrophobicity (Angew. Chem. 3/2004)
Authors: Sun Taolei , Wang Guojie , Feng Lin , Liu Biqian , Ma Yongmei , Jiang Lei , Zhu Daoben
Published: December 2003

Yin und Yang symbolisieren gemäß der altchinesischen Taiji‐Philosophie ein fundamentales Gegensatzpaar in Natur und Universum. Ein ebenfalls fundamentales Gegensatzpaar – von Oberflächenbenetzbarkeitszuständen – bilden Superhydrophilie und Superhydrophobie. Durch thermische Induktion kann zwischen beiden Zuständen reversibel geschaltet werden, wobei der Temperaturbereich der Schaltung von der chemischen Modifikation der Oberfläche und der Oberflächenrauigkeit abhängt. Weitere Informationen sind in der Zuschrift von L. Jiang et al. auf S. 361 ff. zu finden.