The Evolution of roommate networks: a comment on Jackson and Watts JET (2002)

We extend Jackson and Watts's (2002) result on the coincidence of S-stochastically stable and core stable networks from marriage problems to roommate problems. In particular, we show that the existence of a side-optimal core stable network, on which the proof of Jackson and Watts (2002) hinges, is not crucial for their result.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic evaluation included a full clinical examination, color vision testing and electroretinography. Linkage analysis using microsatellite markers flanking CNGA3, CNGB3, GNAT2 and PDE6C genes was performed. Mutations were screened by direct sequencing. A total of 12 individuals were diagnosed with congenital complete achromatopsia. They are members of six nuclear consanguineous families belonging to the same large consanguineous family. Linkage analysis revealed linkage to GNAT2. Mutational screening of GNAT2 revealed three intronic variations c.119-69G>C, c.161+66A>T and c.875-31G>C that co-segregated with a novel mutation p.R313X. An identical GNAT2 haplotype segregating with this mutation was identified, indicating a founder mutation. All patients were homozygous for the p.R313X mutation. This is the first report of the clinical and genetic investigation of complete achromatopsia in North Africa and the largest family with recessive achromatopsia involving GNAT2; thus, providing a unique opportunity for genotype-phenotype correlation for this extremely rare condition.

Which Inequality? The Inequality of Endowments Versus the Inequality of Rewards

Society often allocates valuable resources - such as prestigious positions, salaries, or marriage partners - via tournament-like institutions. In such situations, inequality affects incentives to compete and hence has a direct effect on equilibrium choices and hence material outcomes. We introduce a new distinction between inequality in initial endowments (e.g. ability, inherited wealth) and inequality of what one can obtain as rewards (e.g. prestigious positions, money). We show that these two types of inequality have opposing effects on equilibrium behavior and wellbeing. Greater inequality of rewards tends to hurt most people — both the middle class and the poor, — who are forced into greater effort. In contrast, greater inequality of endowments tends to benefit the middle class. Thus, which type of inequality is considered hugely affects the correctness of our intuitions about the implications of inequality.

Adaptation and anticipation effects to life events in the United Kingdom

We analyze how individual happiness is affected over time by nine major life events using a panel of British individuals. Our aim is to test for the existence of adaptation and anticipation effects. Adaptation effects are found for all the life events considered with the possible exception of unemployment. Anticipation effects precede events that are easily predicted such as marriage, separation and the birth of a child.

Life partnerships in childhood cancer survivors, their siblings, and the general population.

BACKGROUND: Life partnerships other than marriage are rarely studied in childhood cancer survivors (CCS). We aimed (1) to describe life partnership and marriage in CCS and compare them to life partnerships in siblings and the general population; and (2) to identify socio-demographic and cancer-related factors associated with life partnership and marriage. METHODS: As part of the Swiss Childhood Cancer Survivor Study (SCCSS), a questionnaire was sent to all CCS (aged 20-40 years) registered in the Swiss Childhood Cancer Registry (SCCR), aged <16 years at diagnosis, who had survived ≥ 5 years. The proportion with life partner or married was compared between CSS and siblings and participants in the Swiss Health Survey (SHS). Multivariable logistic regression was used to identify factors associated with life partnership or marriage. RESULTS: We included 1,096 CCS of the SCCSS, 500 siblings and 5,593 participants of the SHS. Fewer CCS (47%) than siblings (61%, P < 0.001) had life partners, and fewer CCS were married (16%) than among the SHS population (26%, P > 0.001). Older (OR = 1.14, P < 0.001) and female CCS (OR = 1.85, <0.001) were more likely to have life partners. CCS who had undergone radiotherapy, bone marrow transplants (global P Treatment = 0.018) or who had a CNS diagnosis (global P Diagnosis < 0.001) were less likely to have life partners. CONCLUSION: CCS are less likely to have life partners than their peers. Most CCS with a life partner were not married. Future research should focus on the effect of these disparities on the quality of life of CCS.

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

BACKGROUND: Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this study we estimate the proportion of these individuals within the general population, via the analyses of data from whole-genome sequencing. METHODOLOGY/PRINCIPAL FINDINGS: We screened complete and high-quality genome sequences from 46 control individuals from various world populations for HRD mutations, using bioinformatic tools developed in-house. All mutations detected in silico were validated by Sanger sequencing. We identified clear-cut, null recessive HRD mutations in 10 out of the 46 unaffected individuals analyzed (∼22%). CONCLUSIONS/SIGNIFICANCE: Based on our data, approximately one in 4-5 individuals from the general population may be a carrier of null mutations that are responsible for HRD. This would be the highest mutation carrier frequency so far measured for a class of Mendelian disorders, especially considering that missenses and other forms of pathogenic changes were not included in our assessment. Among other things, our results indicate that the risk for a consanguineous couple of generating a child with a blinding disease is particularly high, compared to other genetic conditions.

Manipulability in matching markets: conflict and coincidence of interests

We study comparative statics of manipulations by women in the men-proposing deferred acceptance mechanism in the two-sided one-to-one marriage market. We prove that if a group of women employs truncation strategies or weakly successfully manipulates, then all other women weakly benefit and all men are weakly harmed. We show that our results do not appropriately generalize to the many-to-one college admissions model.

La redimensió de la llibertat civil en l'àmbit de les relacions familiars

La virtualitat de la formulació de la llibertat civil com a principi de l'ordenament civil català és, precisament, que permet projectar-la sobre qualsevol àmbit en el qual el poder de decisió resti en poder dels particulars. Així doncs, el legislador parteix del respecte per a l'autonomia privada com a eina d'autoregulació d'interessos. A Catalunya, el principi de llibertat civil en la regulació de les relacions familiars és més extens que en el Codi Civil, d'acord amb la pròpia tradició jurídica, palesada en tots els textos legals. La llibertat civil té una àmplia projecció en l'organització de les institucions de protecció de la persona. El legislador ha optat per un sistema de familiar, amb la justa intervenció judicial de control (p.ex., la designació voluntària d'òrgans de protecció té caràcter vinculant pel jutge). El principi de llibertat civil es veu enormement enfortit en la futura legislació representada avui per l'encara Avantprojecte de Llei del Llibre segon Codi Civil de Catalunya. L'Avantprojecte també vindrà a reforçar la llibertat dels contraents o cònjuges pel que fa a l'autorregulació de les seves relacions patrimonials intensificant la possibilitat de pactes abdicatius o limitatius dels drets derivats d'una futura ruptura i introduint una regulació al respecte amb atenció als límits que la doctrina i la jurisprudència ha vingut imposant a les experiències pràctiques en aquest àmbit. Les unions estables no es poden sostreure a l'aplicació dels mínims legals: la llibertat de ser només “de fet” pràcticament no existeix. Ens trobem davant una qüestió d'ordre públic perquè és una nova modalitat de família a la que s'ha de dispensar la protecció constitucional (art. 39 CE). La llibertat es limita a escollir entre que el vincle o unió sigui matrimonial o no. L'Avantprojecte incrementa la intervenció de l'Estat: la llibertat es redueix al contingut dels pactes reguladors de la convivència i de la seva crisi.

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease.

Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in five patients with arMCOP from a consanguineous Tunisian family. In one patient with MCOP from the Faroe Islands and in another one from Turkey, no PRSS56 mutation was detected, suggesting nonallelic heterogeneity of the trait. Using RT-PCR, PRSS56 transcripts were detected in samples derived from the human adult retina, cornea, sclera, and optic nerve. The expression of the mouse ortholog could be first detected in the eye at E17 and was maintained into adulthood. The predicted PRSS56 protein is a 603 amino acid long secreted trypsin-like serine peptidase. The c.1066dupC is likely to result in a functional null allele, whereas the two point mutations predict the replacement of evolutionary conserved and functionally important residues. Molecular modeling of the p.Trp309Ser mutant suggests that both the affinity and reactivity of the enzyme toward in vivo protein substrates are likely to be substantially reduced.

Holy harlots : authority, gender, and the body in medieval English hagiography

This doctoral dissertation aims at describing the representation of holy harlots (Mary Magdalene, Mary of Egypt, Pelagia, Thai's, Afra of Augsburg) in medieval English hagiography. These saints are unique representatives that combine both extremes of the feminine in the medieval imaginaire: she is both, as a saint, the Virgin Mary, the pure and virtuous woman, and, in her past as a prostitute, Eve, the evil female tempter who led all mankind to destruction. The initial question of this thesis is how did hagiographers negotiate the representation of a formerly sinful, sexually active, long- living woman as an authoritative saint? This thesis aims at finding elements of answer to this question, investigating the intersections between gender and authority in the saints' lives of repentant prostitutes in all the vernaculars of medieval England: Old English, Anglo-Norman, and Middle English. It posits that the portrayal of holy harlots' authority and gender is dependent upon social, religious and literary shifts during the medieval period. My contention is that the harlot's gender portrayal changes over the course of the eleventh and twelfth centuries, due notably to the rise of affective piety and the important influence of the romance genre over hagiography. In Anglo-Saxon England, the harlot's gender changes with the saint's conversion: a woman beforehand, her gender is portrayed after her repentance as ambiguous in order for her to become a saint. Her authority derives from her own sanctity in this case. From the twelfth century onward, however, the harlot, now often turned into a beautiful and landed romance lady, is more and more represented as a woman throughout her life, and becomes after her conversion a Bride of Christ. In this way, the dangerously free woman who roamed the streets and prostituted her body becomes less threatening after her conversion, being (re-)inscribed within the male dominated institution of marriage. She now draws her authoritative stance from her gendered intimacy with Christ: although she submits to Christ as his bride, she also gains greater authority than before by way of her privileged relationship with the Savior.

Deciding where to belong: gender differences in educational trajectories and migration in a rural Spanish town

From an anthropological perspective, formal post-secondary schooling is not an abstractentity with an intrinsic value that everyone finds desirable, but rather one alternative among many that young people evaluate from their different positions in the social field. The problem discussed in this paper is the diverging life trajectories that young men and women in a concrete rural context, at the end of the 20th century, shape for themselves at the ages of 14-16, a moment of decision created by national legislation regarding mandatory education (LGE, 1970, General Education Law, and LOGSE, 1990, General Organic Law of the Education System). Despite a strong cultural norm of equal inheritance divided among all children, male and female, and despite the equal educational opportunities provided by the Spanish State, different meanings of possession and use-rights over land and the resulting culturally accepted gendered division of work converge to orient men and women differently towards post-secondary schooling. Observation of the age, gender, and civil status structure of the population led to the preliminary query: Why do men and women, in this town, behave differently with respect to migration and marriage? The main hypothesis was that women’s longer school trajectories and resulting migration and men’s anchoring in the town and their higher rates of celibacy were not drastic changes in values, in the positional-relational sense of Bourdieu (1988, 2002), but the current outcome of previously existing dissimilar relations to property that produce dissimilar mobility. Through their schooling and work choices, young men and women, at very early ages, locate themselves in, or decide to belong to, different contexts that later reveal very different possibilities of finding marriage partners. This paper is based on an ethnographic study of a small rural town (302 inhabitants in 1950; 193 in 2000) near Leon. Although this paper deals with the situation in the final decades of the 20th century, we must also consider the first half of the century, where some elements that shape this situation have their roots. Fieldwork was carried out between 1988 and 2001, in periods of differing length and intensity. The social subjects discussed here are the domestic unit and its component members. They were studied in conjunction, analyzing the life-trajectory decisions of specific persons in the framework of the domestic unit and the relations among people and property which comprise it. The tried-and-true methods of ethnographic research –participant observation, interviews, and life-histories, etc.- were employed. Archival research was also important for producing demographic data. Demographic analysis, the analysis of the composition and transformation of domestic units, and the creation of life trajectories were among the principal techniques used. The theoretical analysis was oriented by Bourdieu’s (2002) framework of the social field, habitus, and difference.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

We report on a consanguineous, Afghani family with two sisters affected with characteristic facial features, multiple contractures, progressive joint and skin laxity, hemorrhagic diathesis following minor trauma and multisystem fragility-related manifestations suggestive of a diagnosis of musculocontractural Ehlers-Danlos syndrome (EDS). This novel form of connective tissue disorder was recently reported in patients of Japanese, Turkish, and Indian descent who were formerly classified as having EDS type VIB and has now been recognized to be a part of spectrum including patients previously classified as having adducted thumb-clubfoot syndrome. We identified a previously unreported mutation in the CHST14 gene, which codes for the enzyme dermatan 4-O-sulfotransferase. We discuss the prenatal presentation, detailed clinical manifestations, and neurological findings in two sisters with this newly described musculocontractural EDS-CHST14 type. We demonstrate that fibroblasts from one of our patients produce more chondroitin sulfate than normal and show lower than normal deposition of collagens I and II and fibrillin 1-containing microfibrills. These findings suggest that the imbalance in the glycosaminoglycan content in developing tissues might interfere with normal deposition of other extracellular matrix components and ultimately contribute to the development of the phenotype observed in these patients. Furthermore, we ruled out the contribution of intrinsic platelet factors to the bleeding diathesis observed in some affected individuals. © 2012 Wiley Periodicals, Inc.

Incorporació de criteris d’eficiència en les dissolucions matrimonials a Catalunya: estudi comparatiu amb el dret de familia de l’Estat de Nova York

El règim econòmic matrimonial català i el de l’estat de Nova York presenten un paral·lelisme estructural important ja que tots dos territoris han adoptat el mateix règim econòmic matrimonial, el de separació de béns. No obstant, la seva implementació i la conseqüent pràctica jurisprudencial difereix significativament. El dret de família de l’estat de Nova York, se situa en un context de common law, és a dir, en un sistema judicial que evoluciona ràpidament i s’adapta relativament ràpid a les necessitats d’una realitat social que està en constant evolució. El legislador català, tot i que ha fet esforços a nivell de donar respostes als nous reptes plantejat per la realitat familiar catalana, encara està lluny de fer front a problemes d’aplicació que sovint planteja el règim econòmic matrimonial dels cònjuges catalans. D’altra banda, la realitat social catalana no és significativament diferent a la realitat nord-americana ateses les noves composicions familiars amb famílies monoparentals, fills de diferents matrimonis i una alta proporció de divorcis per matrimoni. D’altra banda, l’estructura patrimonial de les famílies, tant les catalanes com les novaiorqueses també presenten una estructura patrimonial similar formada no només per la residència habitual sinó per patrimoni intangible i per inversions que comencen a meritar durant el matrimoni però que vencen una vegada aquest vincle s’ha dissolt. Ha resultat constructiu, doncs, comparar els règims i extreure lliçons del règim novaiorquès que s’han revelat molt útils per a la nostra pràctica catalana. Així doncs, l’objectiu d’aquest projecte de recerca ha estat estudiar el règim econòmic matrimonial català i el novaiorquès que ha culminat amb la formulació de propostes normatives i de pràctica jurisprudencial que permetran modernitzar i actualitzar l’aplicació del règim econòmic matrimonial català i d’aquesta manera adaptar-lo a la nova realitat social i econòmica de les famílies catalanes.

Lire, écrire : d'un désir l'autre : le "roman de Meliadus" du XIIIe au XVIIIe siècle

Continuation elleptique du Tristan en prose, qui s'inscrit dans l'interstice séparant la naissance de Tristan du remariage de Méliadus avec la fille du roi Hoël, le Roman de Meliadus (1235-1240) est une oeuvre fondamentalement ouverte, de par son inachèvement et de par le dialogue constant qu'il instaure avec les autres romans arthuriens. S'il revendique sa filiation et assume son statut de récit puîné, les réminiscences qu'il exhibe masquent aussi les gauchissements, les infléchissements qui lui permettent de faire du neuf avec du vieux. C'est ce jeu - aux deux sens du terme - que cette étude se propose de mettre en lumière et de voir fonctionner, non seulement dans le Roman de Meliadus proprement dit, mais également dans trois de ses relectures, qui actualisent et renouvellent la signification du roman en profondeur. La première est une continuation qui date de la toute fin du XIIIe ou du début du XIVe siècle et qui est aujourd'hui conservée par le seul manuscrit Ferrell 5. La deuxième actualisation retenue est celle qu'offre Meliadus de Leonnoys, l'imprimé publié en 1528 par Galliot du Pré, puis en 1532 par Denis Janot, fruit d'un minutieux travail de découpage et de remontage. La dernière enfin est l'extrait paru en 1776 dans la Bibliothèque Universelle des Romans sous le titre Méliadus de Léonnois. An ellipitic continuation of the Prose Tristan, which inscribes itself in the space separating the birth of Tristan from Meliadus' new marriage with king Hoël's daughter, the Meliadus' romance (1235-1240) is essentially an open text on account of its incompleteness and the dialogue it establishes with other arthurian romances. Even asserting filiation status, the reminiscences also show the reshaping and the inflection that allow the text to transform old into new. Analyzing this game is the central purpose of this work; to observe the operation in the Meliadus' romance, as well as in three of its recuperations that profoundly renew the significance of the novel; beginning with a continuation from the end of the 13th century or the early 14th century, preserved nowadays in only one manuscript (Ferrel 5); followed by the meticulous work of cutting and reassembling offered by the Meliadus of Leonnoys (printed by Galliot du Pré in 1528 first and again by Denis Janot in 1532) and finally an excerpt published in 1776 in the Bibliothèque Universelle des Romans with the title Méliadus of Leonnois.

Les unions estables de parella: noves tendències legislatives a Catalunya

L’estudi elaborat té per objecte aprofundir en l’ànàlisi de la realitat social que envolta el model familiar de la convivència sense matrimoni per tal de conèixer millor la seva realitat en l’àmbit de les relacions de parentiu (a partir de la realització d’entrevistes), així com relacionar aquests aspectes amb la seva regulació legal a Catalunya (analitzant la tramitació parlamentària de la Llei d’unions estables de parella, aprovada pel Parlament de Cataluña, així com la seva aplicació per part dels nostres Jutjats i Tribunals). El que s’ha pogut constatar en la recerca és que, per una banda, la institucionalització de les unions estables de parella ha deixat de banda una part prou significativa de parelles de fet, a les quals no és d’aplicació una normativa dirigida a resoldre els conflictes derivats de la convivència efectiva en parella. Malgrat que a les entrevistes s’ha demostrat un clar desconeixement de la regulació legal actual de les unions estables de parella si que es pot destacar que hi ha un interès perquè existeixi una cobertura jurídica en les situaciones de convivència afectiva en parella. A més, la Llei catalana presenta mancances en els efectes regulats, que no tenen una aplicació substancial, ja que no responen a una tècnica jurídica acurada amb la realitat social que té per objectiu regular. Precisament amb l’aprovació d’altres lleis autonòmiques sobre unions estables de parella ens permetem plantejar una actualització de la Llei catalana en qüestions molt diverses (curatela, mediació familiar, funció pública, etc.) Es fa palesa a partir de les entrevistes dutes a terme la manca d’informació general sobre els requisits de constitució de les unions estables de parella, així com de la cobertura legal vigent. Possiblement si la modificació de la Llei d’unions estables de parella fos més àmplia, s’avançaria en la consideració d’aquest model familiar com a opció real de configuració familiar, dins la llibertat personal d’elecció en la forma de convivéncia.