Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family

Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing. Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele. Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consanguineous family. This report brings the number of VSX2 mutation in anophthalmia/microphthalmia (A/M) to 13. Functional consequences of the reported changes still need to be characterized, as well as the percentage of A/M caused by mutations in the VSX2 gene. This family also shows that despite consanguinity, heterozygous mutations can also happen and one should not restrict the molecular analysis to homozygous mutations.

Corneal Dystrophies: Overview and Summary.

In this chapter, I shall discuss the genetics, mode of inheritance and molecular origin of several corneal dystrophies.

Cleidocranial dysostosis: a report on two familial cases

Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

Lateral gene exchanges shape the genomes of amoeba-resisting microorganisms.

Based on Darwin's concept of the tree of life, vertical inheritance was thought to be dominant, and mutations, deletions, and duplication were streaming the genomes of living organisms. In the current genomic era, increasing data indicated that both vertical and lateral gene inheritance interact in space and time to trigger genome evolution, particularly among microorganisms sharing a given ecological niche. As a paradigm to their diversity and their survival in a variety of cell types, intracellular microorganisms, and notably intracellular bacteria, were considered as less prone to lateral genetic exchanges. Such specialized microorganisms generally have a smaller gene repertoire because they do rely on their host's factors for some basic regulatory and metabolic functions. Here we review events of lateral gene transfer (LGT) that illustrate the genetic exchanges among intra-amoebal microorganisms or between the microorganism and its amoebal host. We tentatively investigate the functions of laterally transferred genes in the light of the interaction with their host as they should confer a selective advantage and success to the amoeba-resisting microorganisms (ARMs).

Genetic linkage map of Phaseolus vulgaris and identification of QTLs responsible for resistance to Xanthomonas axonopodis pv. phaseoli

Common bean (Phaseolus vulgaris) cultivars with a high degree of resistance to Xanthomonas axonopodis pv. phaseoli (Xap) are not available in Brazil. Despite many studies, a low degree of resistance to Xap continues to exist due to its complex genetic inheritance, which is not well known. The objectives of this research were to complement a common bean genetic map based on the cross between a susceptible genotype 'HAB-52' and a resistant genotype 'BAC-6', and to map and analyze genomic regions (quantitative trait loci – QTLs) related to Xap resistance. Eleven linkage groups were determined using 143 RAPD markers, covering 1,234.5 cM of the genome. This map was used to detect QTLs associated with Xap resistance on leaves and pods. The averages of disease severity on leaves (represented by the transformed disease index – TDI) and pods (represented by the diameter of lesion on pods – DLP) were added to the data of the linkage map. Five TDI QTLs and only one LDP QTL were detected. The TDI QTLs were placed in the A, B, G and J linkage groups, with phenotypic variations ranging from 12.7 to 71.6%. The DLP QTL explained 12.9% of the phenotypic variation and was mapped in a distinct linkage group. These results indicate that there are different genes involved in the control of resistance on leaves and pods.

Sukupolvenvaihdoksen toteuttaminen henkilöyhtiössä

Tutkielma on kvalitatiivinen tutkimus, jossa pääpaino perustuu kirjallisuus- ja oikeustapaustutkimukseen. Tutkielman tavoitteena on selvittää henkilöyhtiön sukupolvenvaihdoksen toteuttamisen vaihtoehdot sekä henkilöyhtiön yhtiöosuuksien luovutuksena että yhtiömuodon muutoksella, jolloin henkilöyhtiö muutetaan ensin osakeyhtiöksi ja sen jälkeen osakeyhtiö voi jakautua. Perheyrityksen sukupolvenvaihdoksen ja siihen liittyvien veroseuraamusten optimointi edellyttää suunnitelmallista prosessia, missä otetaan huomioon eri toteutusvaihtoehtojen verotuksellinen kohtelu sekä luopujien että jatkajien kannalta. Perheen sisällä tapahtuvat sukupolvenvaihdokset tapahtuvat useimmiten lahjana tai lahjanluonteisena kauppana, jolloin perintö- ja lahjaverotus on tarpeen ottaa huomioon jo suunnitteluvaiheessa. Yritysvarallisuuden arvostaminen perintö- ja lahjaverotuksessa sekä sukupolvenvaihdoksen yhteydessä saatavat verohuojennukset ja niiden huomioon ottaminen ovat tärkeitä tekijöitä. Tutkielman case- yrityksessä luopujien ja jatkajien tarpeet huomioiden yhtiömuodon muutos ja jakautuminen voitiin todeta kannattavimmaksi vaihtoehdoksi.

Health Related Quality of Life after Childhood Cancer - A Finnish Nationwide survey

The purpose of this Finnish epidemiological nationwide cross-sectional study was to evaluate the Health Related Quality of Life (HRQL) of young people that have survived childhood cancer at least four years after cancer diagnosis. The study aims were (1) to increase knowledge and understanding about the relationship between childhood cancer and its treatment and HRQL of childhood cancer survivors and (2) to identify survivors who need and could benefit from ongoing long-term follow-up, as well as (3) to identify what kind of aftercare the childhood cancer survivors will possibly need. HRQL and fatigue of currently still young survivors of extracranial childhood malignancies were evaluated with self-reports and parent proxy reports. HRQL was measured with age-appropriate generic instruments: PedsQL™, SF-36, 15D, 16D and 17D. Fatigue for children and adolescents aged below 18 years was measured with the PedsQL™ Multidimensional Fatigue Scale Finnish version. PedsQL™ parent-proxy and the PedsQL™ Multidimensional Fatigue Scale Parentproxy instruments were used to assess the perception of the parents on HRQL and fatigue of their children and adolescents. Postal-survey questionnaires were mailed to 852 childhood cancer survivors aged 11-27 years and their randomly selected gender-, age and living-place matched controls, as well as under 18-year-old children´s parents. A total of 474 survivors, 595 controls, 209 survivor’s parent and 253 control’s parent replied. The mean age of survivors at the time of the study was 18.4 years. The mean length of survival was 12.3 years, and the mean age at diagnosis 5.5 years. The most of the Finnish childhood cancer survivors evaluated that their HRQL as good. Survivors rated their HRQL equal or higher than their controls. The only dimension where the survivors scored poorer than the controls was the 15D mobility dimension. Survivors of childhood cancer did not suffer from significant fatigue. There were subgroups of childhood cancer survivors who had poorer level of HRQL, and suffered from fatigue more than the reference group. The demographic factors that associated with poorer HRQL were female gender, greater weight, living alone, need of remedial education, an additional non-cancer diagnosis, survivors with siblings, and self-reported unhappiness. Disease-related factors that associated with poorer HRQL were higher age at the time of diagnosis, the diagnosis of Wilms tumor, neuroblastoma, or osteosarcoma, and treatment with stem cell transplantation. The factors associated with more fatigue in survivors were male gender, older age at evaluation, the need of remedial education at school, lower overall average grade in the latest school marks report, length of survival more than 10 years, lower HRQL-scores, and a sarcoma diagnosis. However, all the used demographic and disease related factors explained only about one third of the variation in the HRQL scores. In open questions, the survivors were most worried about their physical health, but were also worried about their mental health, cancer inheritance, late-effects, and fertility and relapse issues. It seems that there are subgroups of survivors who need and could benefit from ongoing long-term follow-up. In the future, the survivors of childhood cancer need more information about their physical and mental health, as well as on their cancer inheritance, possible late-effects including fertility issues, and on the risk of relapse.

Building object-oriented software with the D-Bus messaging system

Object-oriented programming is a widely adopted paradigm for desktop software development. This paradigm partitions software into separate entities, objects, which consist of data and related procedures used to modify and inspect it. The paradigm has evolved during the last few decades to emphasize decoupling between object implementations, via means such as explicit interface inheritance and event-based implicit invocation. Inter-process communication (IPC) technologies allow applications to interact with each other. This enables making software distributed across multiple processes, resulting in a modular architecture with benefits in resource sharing, robustness, code reuse and security. The support for object-oriented programming concepts varies between IPC systems. This thesis is focused on the D-Bus system, which has recently gained a lot of users, but is still scantily researched. D-Bus has support for asynchronous remote procedure calls with return values and a content-based publish/subscribe event delivery mechanism. In this thesis, several patterns for method invocation in D-Bus and similar systems are compared. The patterns that simulate synchronous local calls are shown to be dangerous. Later, we present a state-caching proxy construct, which avoids the complexity of properly asynchronous calls for object inspection. The proxy and certain supplementary constructs are presented conceptually as generic object-oriented design patterns. The e ect of these patterns on non-functional qualities of software, such as complexity, performance and power consumption, is reasoned about based on the properties of the D-Bus system. The use of the patterns reduces complexity, but maintains the other qualities at a good level. Finally, we present currently existing means of specifying D-Bus object interfaces for the purposes of code and documentation generation. The interface description language used by the Telepathy modular IM/VoIP framework is found to be an useful extension of the basic D-Bus introspection format.

Prevalence study of SNP c.421G>T in the ADAMTS2 gene responsible for dermatosparaxis in White Dorper sheep in Brazil

Abstract: Dermatosparaxis is an autosomal recessive disorder of connective tissue; the disorder is clinically characterized by skin fragility and hyperextensibility. Dermatosparaxis in White Dorper sheep is caused by a single nucleotide polymorphism (SNP) (c.421G>T) in the ADAM metalloproteinase with thrombospondin type 1 motif, 2 (ADAMTS2) gene. The aim of this study was to investigate the prevalence of this SNP in a White Dorper herd in São Paulo state, Brazil. In this study, we collected blood DNA samples from 303 White Dorper sheep and performed polymerase chain reaction to amplify the SNP region. The samples were sequenced to determine the presence of the SNP in the ADAMTS2 gene. The SNP prevalence in the studied population was 15.5%; this finding indicates that more effective control measures should be used to prevent the inheritance of SNP c.421G>T in the ADAMTS2 gene in Brazilian White Dorper herds.

Porin Kuudennen osan tarinoista rakennettu kulttuuriperintö

Tutkimus käsittelee viranomaisten ja asukkaiden välistä vuorovaikutusta kaavaprosessin aikana. Tutkimusalueena on valtakunnallisesti merkittäväksi kulttuuriympäristöksi luokiteltu Porin Kuudes osa, joka on yksi laajimmista yhtenäisenä säilyneistä 1800-luvun lopun puukaupunkialueista Suomessa. Hermeneuttis-fenomenologista otetta soveltava tutkimus perustuu muistitietoaineistoon, joka avaa näkökulman paikallisen kulttuuriperinnön syntymiseen, periytymiseen ja muutokseen. Kuudennen osan vuonna 2012 voimaan tulleessa asemakaavamuutoksessa suojeltiin 405 rakennusta. Sekä viranomaiset että asukkaat haluavat säilyttää arvokkaan ympäristön jälkipolville. Asukkaiden ja viranomaisten lähtökohdat arvottamiselle ovat kuitenkin erilaiset. Asiantuntijoiden näkemys kulttuuriympäristön arvoista perustuu eksplisiittiseen viralliseen tietoon, joka heijastaa positivistista käsitystä maailmasta mitattavista objekteista koostuvana kokonaisuutena. Asukkaiden arvostus asuinaluetta ja sen rakennuksia kohtaan puolestaan nousee sukupolvelta toiselle siirretyn aineettoman perinnön yhteisöllisestä merkityksestä. Heidän kokemuksensa kiteytyy kodin ja kotiseudun käsitteissä ja se tuodaan esiin rakennuksiin liittyvissä tarinoissa. Tulkinta on virallista tietoa haastavaa ja täydentävää. Kestäviä suojelupäätöksiä voidaan tehdä vain viranomaisten ja asukkaiden väliseen tasa-arvoiseen vuoropuheluun perustuen. Tutkimus nostaa asukkaiden kokemuksellisen, paikkaan sitoutuneen hiljaisen tiedon virallisen tiedon rinnalle, kulttuurisesti kestävän maankäytön suunnittelun perustaksi. Koska ihminen toimii sellaisten asioiden puolesta, jotka hän kokee arvokkaaksi, asukaslähtöinen rakennussuojelu on lähtökohtaisesti yhteisön omakseen kokeman aineettoman kulttuuriperinnön suojelua.

SYLI - an external workflow system for DSpace

Presentation at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

Genetics of resistance to the fungus Helminthosporium sativum in wheat: use of culture filtrates in tissue culture

Six wheat genotypes and their F1 and F2 generations were exposed to the action of Helminthosporium sativum culture filtrates to examine the genetics of hexaploid wheat resistance. The objective was to improve the efficiency of breeding programs by identifying the action and number of genes involved in the resistance. The varied response of the tested genotypes to the culture filtrates allowed division of the genotypes into four groups: resistant, moderately resistant, moderately susceptible and susceptible. This variability was detected in the progeny, suggesting that the parents have distinct genetic constitutions. Additive gene action predominated and genetic gain was shown to be possible through selection. The genetic control of the resistance trait seems to be complex because of the presence of gene interaction and the difficulty of eliminating the environmental effects. The inheritance seems to be oligogenic

A novel polymorphism in the coding region of the vasopressin type 2 receptor gene

Nephrogenic diabetes insipidus (NDI) is a rare disease characterized by renal inability to respond properly to arginine vasopressin due to mutations in the vasopressin type 2 receptor (V2(R)) gene in affected kindreds. In most kindreds thus far reported, the mode of inheritance follows an X chromosome-linked recessive pattern although autosomal-dominant and autosomal-recessive modes of inheritance have also been described. Studies demonstrating mutations in the V2(R) gene in affected kindreds that modify the receptor structure, resulting in a dys- or nonfunctional receptor have been described, but phenotypically indistinguishable NDI patients with a structurally normal V2(R) gene have also been reported. In the present study, we analyzed exon 3 of the V2(R) gene in 20 unrelated individuals by direct sequencing. A C®T alteration in the third position of codon 331 (AGC®AGT), which did not alter the encoded amino acid, was found in nine individuals, including two unrelated patients with NDI. Taken together, these observations emphasize the molecular heterogeneity of a phenotypically homogeneous syndrome

Absence of linkage between MHC and a gene involved in susceptibility to human schistosomiasis

Six hundred million people are at risk of infection by Schistosoma mansoni. MHC haplotypes have been reported to segregate with susceptibility to schistosomiasis in murine models. In humans, a major gene related to susceptibility/resistance to infection by S. mansoni (SM1) and displaying the mean fecal egg count as phenotype was detected by segregation analysis. This gene displayed a codominant mode of inheritance with an estimated frequency of 0.20-0.25 for the deleterious allele and accounted for more than 50% of the variance of infection levels. To determine if the SM1 gene segregates with the human MHC chromosomal region, we performed a linkage study by the lod score method. We typed for HLA-A, B, C, DR and DQ antigens in 11 informative families from an endemic area for schistosomiasis in Bahia, Brazil, by the microlymphocytotoxicity technique. HLA-DR typing by the polymerase chain reaction with sequence-specific primers (PCR-SSP) and HLA-DQ were confirmed by PCR-sequence-specific oligonucleotide probes (PCR-SSOP). The lod scores for the different q values obtained clearly indicate that there is no physical linkage between HLA and SM1 genes. Thus, susceptibility or resistance to schistosomiasis, as defined by mean fecal egg count, is not primarily dependent on the host's HLA profile. However, if the HLA molecule plays an important role in specific immune responses to S. mansoni, this may involve the development of the different clinical aspects of the disease such as granuloma formation and development of hepatosplenomegaly.