Introdução: A síndrome ou seqüência malformativa de Rokitansky-Mayer-Küster-Hauser (SR), de caráter geralmente esporádico, caracteriza-se por aplasia útero-vaginal, freqüentemente associada a anomalias esqueléticas e do trato urinário e a caracteres sexuais secundários, hormônios esteróides e cariótipo normais. A condição é claramente heterogênea, podendo fazer parte de outras seqüências e complexos mais abrangentes. Sua freqüência ao nascimento foi estimada em cerca de 1/5.000 meninas. O banco de dados OMIM (McKusick, 2005) classifica-a como autossômica recessiva e apenas um caso atípico, portador de virilização, foi atribuído a mutação descrita no gene WNT4 (Biason-Laubert e col.., 2004). A vitamina A e seus derivados ativos (ácidos retinóicos ou AR) desempenham papel importante nos processos de diferenciação, proliferação e apoptose celular. Mendelsohn e col. (1994) e Kastner e col. (1997) descreveram malformações congênitas semelhantes afins às da SR em camundongos portadores de mutações nos genes RAR-G e RXR-A dos receptores de AR. A região homóloga em humanos de um desses receptores corresponde exatamente à região descrita por Kucheria e col. (1988) em duas mulheres não aparentadas com agenesia mülleriana e portadoras de translocação (12;14)(q14;q31). Os fatores etiológicos responsáveis pelas anomalias müllerianas são ainda pouco conhecidos, mas o achado freqüente de afetadas com outros defeitos associados (renais, esqueléticos, cardíacos e auditivos) sugere o envolvimento de genes primordiais do desenvolvimento. Materiais e métodos: No total, 43 pacientes (todas com cariótipo 46,XX) e 21 familiares foram todos submetidos a exame clínico e ginecológico e de imagem (ultra-sonografia urogenital e raios-X de coluna) padronizados e à coleta de sangue para estudo cromossômico e molecular. O DNA foi extraído e amplificado por PCR Touch-Down; a triagem das mutações foi realizada em cinco genes (RARG, RXR-A, WNT-4, LHX-1 e KLHL-4) por eletroforese SSCP, dHPLC e de seqüenciamento (MegaBace). Quinze pacientes do total apresentando fenótipo mais grave foram triadas quanto a variações no número de cópias de DNA pela técnica de ~1 Mb array-CGH. As alterações detectadas foram validadas por FISH e MLPA. Foram excluídas alterações no número de cópias previamente descritas em indivíduos normais (DGV). Dois novos genes (LHX-1 e KLHL-4) surgiram como possíveis candidatos após a triagem com array- CGH e foram incluídos aos três genes candidatos previamente existentes. Resultados e conclusão: Trinta e nove pacientes possuíam quadro bastante típico de SR com agenesia útero-vaginal, em 27 delas acompanhado de manifestações extra-genitais como defeitos renais, ósseos, agenesia de ovários e surdez. Quatro pacientes apresentaram defeitos müllerianos isolados (agenesia de vagina) e uma outra era portadora da associação MURCS. A analise molecular por meio das técnicas de SSCP, dHPLC e seqüenciamentode todas as regiões codificados dos cinco genes candidatos permitiu identificar 95 alterações. A comparação com os bancos de dados (http://www.ensembl.org/) determinou que as alterações identificadas correspondem a variações populacionais polimórficas previamente descritas e sem efeito patogênico, uma vez que nenhuma delas altera a seqüência de aminoácidos das proteínas por elas codificadas. Mediante array-CGH foram identificadas, em 5 pacientes, um total de 7 alterações submicroscópicas (deleções e duplicações) comprometendo as regiões 1q21.1, 17q12, 22q11.21, 22q11.22, e Xq21.31. Alguns familiares das afetadas, também portadores dessas alterações, apresentavam manifestações leves, indicando que as alterações apresentam penetrância incompleta e expressividade variável. Nossos resultados afastam a RAR-G, RXR-A, WNT-4 como diretamente envolvidos na patogênese da síndrome de Rokitansky e sugerem a existência de variações no numero de copias de novas regiões cromossômicas como relevantes durante o desenvolvimento mülleriano, indicando especificamente os genes LHX1 e KLHL4 como candidatos. / Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, comprising utero-vaginal atresia in otherwise phenotypically normal women with a normal karyotype (46,XX), has an incidence of about 1/5,000 among newborn girls. Anomalies of the genital tract range from upper vaginal atresia to total Müllerian agenesis (congenital absence of the Fallopian tubes, uterus, and upper vagina). Patients with müllerian aplasia (MA) often exhibit additional clinical features such as renal, vertebral and cardiac defects. A number of different syndromes have been associated with MA, and in most cases its aetiology remains poorly understood. We studied 43 women with the MRKH defect and 21 relatives presenting associated anomalies. The study included clinical and ultrasonographic examination of the urogenital system, radiographs of the vertebral column and sequencing of three candidate genes named RAR gama, RXR alpha and WNT-4. Fifteen of our patients, with more complex phenotypes (genital, renal, cardiac, and skeletal defects), were screened for DNA copy number changes by 1 Mb whole genome bacterial artificial chromosome (BAC) array based comparative genomic hybridization (CGH). The detected alterations were validated by an independent method and further mapped by high resolution oligo-arrays. Results: All patients had a normal 46,XX karyotype and were also normal to the RAR gama, RXR alpha and WNT-4 genes. Submicroscopic genomic imbalances affecting the 1q21.1, 17q12, 22q11.21, and Xq21.31 chromosome regions were detected in five probands. Presence of the alterations in the normal mother of one patient suggests incomplete penetrance and/or variable expressivity. Conclusion: 5 of the 15 patients were found to have cryptic genomic alterations. The imbalances on 22q11.21 support recent findings by us and others that alterations in this chromosome region may result in impairment of müllerian duct development. The remaining imbalances indicate involvement of previously unknown chromosome regions in MA, and point specifically to LHX1 and KLHL4 as candidate genes.

Digitalization has made working outside the office easier. When the physical meeting between manager and employee does not exist, another type of leadership is needed. Research has shown that, as the information society has advanced, leadership has evolved from a traditional, hierarchical leadership to a more decentralized coaching leadership. But what happens when a leader must lead and coach an employee that he or she does not physically meet? And does this leadership differ from a physically present leadership? The aim of this study has thus been to understand in what ways physically present and physically absent leadership resembles and differs from each other, based on the manager's perspective. This study is based on a qualitative perspective. The understanding of the perception of the subject has therefore been the starting point. In this study managers in the Stockholm area have been interviewed. Interview data has then been analyzed against theoretical frameworks within leadership and communication. Furthermore, the results of this analysis has been linked to previous research on the subject. The results of this study show that participating managers perceive themselves as being available to their employees, regardless whether they exercise physically present or physically absent leadership. Most of the managers emphasize a good relationship with their employees and the importance of seeing the individual in the employee. Our study shows that the physically distance between manager and employee affects which type of leadership the manager applies. Managers with physically present leadership show a more supervising leadership style compared to managers who exercise physically absent leadership. / Digitaliseringen har lett till att arbete på distans har blivit lättare. När det fysiska mötet mellan chef och anställd uteblir behövs ett ledarskap anpassat till detta. Forskning har visat, i takt med att kunskapssamhället har växt fram, att ledarskapet kommit att utvecklats från ett traditionellt, hierarkiskt ledarskap till ett mer decentraliserat, coachande ledarskap. Men vad händer när en chef ska leda och coacha en anställd som han eller hon inte träffar? och skiljer sig detta ledarskap mot ett fysiskt närvarande ledarskap? Syftet med denna studie har varit att förstå för hur ett fysiskt närvarande och ett fysiskt frånvarande ledarskap liknar och skiljer sig åt, utifrån chefers uppfattning. Studien har utgått från ett kvalitativt perspektiv och förståelsen för personers upplevelse av det studerade ämnet har därför varit utgångspunkten. I denna studie har chefer inom Stockholmsområdet intervjuats. Intervjudata har sedan analyserats mot teoretiska ramverk inom ledarskap och kommunikation. Vidare har analysresultaten kopplats mot tidigare forskning inom ämnet. Resultaten av denna studie visar att medverkande chefer uppfattar sig som tillgängliga för sina anställda, oavsett om de utövar ett fysiskt närvarande eller ett fysiskt frånvarande ledarskap. Merparten av cheferna betonar en god relation med sina anställda och vikten av att se individen i den anställde. Funna skillnader mellan de två ledarskapen är att den fysiska närheten eller distansen påverkar vilken typ av ledarskap som chefen tillämpar. Chefer med ett fysiskt närvarande ledarskap antar en mer övervakande ledarstil jämfört med chefer som utövar ett fysiskt frånvarande ledarskap.

The use of treated waste water for irrigation of vegetable crops is on the increase in Botswana especially in the Glen Valley farms, a peri-urban settlement of Gaborone city. However, the effects of this practice on heavy metals uptake by vegetable crops are uninvestigated. Chromium and nickel have been reported to be accumulating in Gaborone crop soils and cultivating vegetables in these soils with treated waste water could potentially lead to an increased bio-availability of the heavy metals in the vegetable crops. The main aim of this study was therefore to compare the uptake of chromium and nickel in tomato plants, a vegetable grown in sludge amended Glen Valley soils, to those grown in sludge absent Glen Valley soils using treated waste water at different pH values and tap water for irrigation. The high water uptake and high water consumption rate of tomato plants made it suitable for this study. Twenty five pots each containing 2.5 kg sludge amended Glen Valley soils and 5 pots each containing 2.5 kg sludge absent soils were utilized. Fresh treated waste water in a 50 L plastic container on a need by need basis was used. For the control experiments 5 pots each containing 2.5 kg standard commercial soils and fresh tap water were used. The potted tomato plants were cultivated from early May to middle of October 2009. One leaf and one fruit from each tomato plant was harvested and tested in this study. The highest uptakes of chromium (0.819 mg/L) and nickel (0.327 mg/L) were experienced in the leaves where the tomato plant were cultivated in standard commercial soil and irrigated with tap water at pH 7.0. The least uptake of chromium (0.052 mg/L) and that of nickel (-0.030 mg/L) was found in the fruits, where the tomatoes were grown in sludge amended Glen Valley soil and irrigated with normal Glen Valley treated waste water at pH 8.5. Increasing the pH of the treated waste water from 5.0 to 6.0 caused increased bio-accumulation of chromium and nickel in the leaves and the fruits of the tomato plants. Normal treated waste water (pH 8.5) and treated waste water at pH 9.0, however, reduced the chromium and the nickel uptake by the tomato plants. Treated waste water at pH 10.0 bio-accumulate more chromium and more nickel in the leaves and fruits of tomato plants. The pH variation experiments suggested that the fruit tissues accumulated more chromium and the leaf tissues accumulated more nickel. The mean chromium uptake in the tomato plants exceeded the Food and Agriculture Organization permissible limits but the Botswana Bureau of Standards effluent limit was not exceeded. The mean nickel concentrations were below the threshold limits for both local and international standards. Statistical analysis showed no significant difference between the mean chromium and the mean nickel concentration in the leaves and the fruits of the tomatoes at the 5% significant level. It can be concluded from this study that cultivating tomatoes with sludge amended Glen Valley soil combined with normal treated waste water at pH 8.5 could reduce the uptake of chromium and nickel uptake in tomato plants. However, an increase in the uptake of chromium and nickel in the leaves and fruits of the tomato plants could be triggered at slightly low pH (pH 5.0 and pH 6.0) and high pH (pH 10.0) of the treated waste water. It is recommended that the current practices of using treated waste water combined with sludge amended Glen Valley soil to cultivate tomatoes at the Glen Valley farm is good practice and should be continued. Nonetheless, further studies need to be carried out at the farm to establish possible phytotoxicity effects of these heavy metals on tomatoes when using treated waste water combined with sludge amended and sludge absent soils. / Dissertation (MSc)--University of Pretoria, 2011. / Chemical Engineering / unrestricted

Forskning visar att risken för våld och utsatthet i hemmet för barn ökar som en konsekvens av ”nedstängningar” under våren 2020 i samband med covid-19. Personal vid förskola och socialtjänst mister insyn i förskolebarns liv när vårdnadshavare håller barn hemma. Utsatta barn hamnar således i – vad i studien benämns vara – ett ingenmansland. Studien syftar till att undersöka hur personal inom förskola respektive socialtjänst uppfattar pandemin påverkat förskolebarns frånvaromönster i relation till upprättade orosanmälningar gällande barn i förskoleålder våren 2020. Data insamlades från förskolerektorer samt socialsekreterare. Materialet analyserades genom konventionell innehållsanalys utifrån Becks teori om risksamhället. Resultaten visar att förskolan i jämförelse med innan pandemin, har lägre grad av insyn i barns liv samtidigt som socialtjänsten inte ser ett pandemirelaterat ökat antal orosanmälningar, snarare ett minskat eller stagnerat inflöde. Resultaten visar att barns utsatthet i hemmet därmed har ökat. Förskolebarn är  hemma i högre utsträckning än tidigare, särskilt barn med annat modersmål än svenska, samtidigt som förväntad ökning av orosanmälningar till socialtjänsten uteblivit. Rektorer gjorde inte i högre utsträckning orosanmälningar, trots att de uttryckt en direkt och indirekt ökad oro för barn. Barns hemsituation osynliggörs på så sätt för professionella vuxna, och barnen hamnar mellan skyddsnätet förskola och socialtjänst. / Research shows that the risk of violence and vulnerability in the home for children increases as a consequence of lockdowns related to the covid-19 pandemic. Staff at preschools and social services lose insight into the lives of preschool children when guardians keep their children at home. Vulnerable children thus end up being in a no-man's land. The study aims to investigate how staff in preschool and social services perceive the pandemic affected preschool children's absence patterns in relation to established reports of concerns regarding children of preschool age in the spring of 2020. Data were collected from preschool principals and social workers, analyzed through a conventional content analysis and Ulrich Beck's theory of a risk society. The results show that preschools to a lesser extent than before the pandemic, has insight into children's lives and the social services do not see any pandemic-related increased inflow of reports of concern, rather decreased or stagnated. The study shows  that children's vulnerability in the home has increased. Preschool children were at home to a greater extent than before, especially children with a mother tongue other than Swedish, and the annual expected increase in reports of anxiety to the social services did not materialize. Principals have not made more reports of concern, despite the fact that they have expressed a direct and indirect increased concern for children. Children's home situation is made invisible to professional adults, and the children end up in between two important safety nets, preschool and social services.

Författare: Frida Pettersson & Julia Norgren Datum: 2022-05-24 Nivå: Kandidatuppsats, företagsekonomi, 15 HP Handledare: Annika Schilling Examinator: Mikael Lundgren Titel: ”En så kallad sjuk organisationskultur” - En kvalitativ studie som belyser hur organisationskulturen kan ligga till grund för att människor lämnar en organisation Syfte: Studiens syfte är att klarlägga hur innehållet i en organisationskultur kan påverka människor att lämna alternativt bli uteslutna ur en organisation. Metod: Studien behandlar fenomenet organisationskultur och tog med utgångspunkt i detkomplexa ämnet avstamp i en kvalitativ studie med en abduktiv forskningsansats. Studien har också tillämpat en fallstudiedesign där semistrukturerade intervjuer och kompletterande observationer varit den datainsamlingsmetod som nyttjats. Slutsats: Studiens resultat visar på att organisationskulturen är en bidragande faktor till att människor väljer att lämna alternativt blir uteslutna ur en organisation. Studien har belyst diverse strukturer inom organisationen som alla kan benämnas som tämligen ohälsosamma när man talar om organisationskultur. Vi kan med utgångspunkt i det konstatera att den ohälsosamma organisationskultur som idag präglar arbetsplatsen har bidragit till den höga personalomsättning och således också den exkludering som kommit att karaktärisera organisationen.  Nyckelord: Ohälsosam organisationskultur, maktstrukturer, ohälsosamt ledarskap, frånvarande ledarskap, exkludering. / Authors: Frida Pettersson & Julia Norgren Date: 2022-05-24 Level: Bachelor thesis, Business administration, 15 credits Advisor: Annika Schilling Examiner: Mikael Lundgren Title: “A so-called sick organizational culture” – A qualitative study that emphasizes how the organizational culture can be the reason behind why people are leaving an organization.  Purpose: The purpose of this study is to clarify how the content of an organizational culture can affect people to leave or be excluded from an organization. Method: The study addresses the phenomenon organizational culture and on the basis of the complexity of the subject a qualitative study with an abductive research approach was chosen. The study also applied a case study design where semi-structured interviews and supplementary observations where the data collection method that was used. Conclusion: The result of the study shows that the organizational culture is a contributor to why people leave or become excluded from an organization. The study has elucidatedstructures within the organization that can all be described as rather toxic when talking about organizational culture. Based on that we can ascertain that the organizational culture thatdistinguishes the workplace today has contributed to the high staff turnover and thus also the exclusion which has come to characterize the organization. Keywords: Toxic organizational culture, power structures, toxic leadership, absent leadership,exclusion.

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Text in English / This study explored the lived experiences of black African men who grew up in absent-father homes. A phenomenological approach and qualitative exploratory design were used. The research participants were recruited in the Pretoria, South Africa through purposive sampling. Interpretative phenomenological analysis was used to analyse the information. The findings of this study indicate the following: the participants experienced various challenges in growing up in absent father homes. These included financial challenges, feelings of rejection, lack of guidance and protection. They had to rely on their single mothers for provision as well as the extended family and the community for support. These men were self-reliant, persevered and worked hard to achieve their goals in life. Resilience also played a role in making them thrive. They in turn wanted to be good fathers and husbands to their wives and children. Further research on resilient men who grew up in absent-father homes is recommended. / Psychology / M.A. (Clinical Psychology)

Šiandien yra būtina lanksti švietimo įstaigų darbo sistema, todėl šiame darbe buvo aiškinamasi, kokia šiuo metu yra tėvų nuomonė apie įvairias šių įstaigų teikiamas ikimokyklinio ugdymo paslaugas vaikams. Tyrimo tikslas. Išanalizuoti ikimokyklinio ugdymo paslaugų šeimoms ir vaikams, kurie lanko ir nelanko ikimokyklinio ugdymo įstaigas, paslaugų įvairovę. Tyrimo uždaviniai: išsiaiškinti ikimokyklinio ugdymo ir su juo susijusių paslaugų įvairovę vaikams, kurie lanko įstaigas ir kurie nelanko, vėliau šias abi paslaugų kryptis palyginti. Buvo numatyta hipotezė, kad ikimokyklinio ugdymo paslaugų įvairovė skiriasi kiekybės požiūriu ir netenkina pakitusių visuomenės poreikių. Tiriamųjų imtis: 1190 respondentų. Iš kurių - 898 tėvai, kurių vaikai lanko ikimokyklinio ugdymo įstaigas ir 292 tėvai, kurių vaikai nelanko šių įstaigų. Tėvai buvo pasirinkti iš įvairių Lietuvos miestų ir rajonų. Nustatyti tyrimo faktai leidžia teigti, kad tyrimo hipotezė pasitvirtino- daugiau paslaugų yra teikiama vaikams, kurie lanko ikimokyklines ugdymo įstaigas .Tiems, kurie jų nelanko- paslaugų įvairovė yra žymiai menkesnė, todėl turėtų būti geriau apgalvota ir kryptingiau organizuojama. Raktažodžiai: vaikų priežiūros paslaugos, šeimos politika, paslaugos šeimoms ir vaikams, ikimokyklinio ugdymo įstaigas lankantys ir nelankantys vaikai, paslaugų įvairovė. / Nowadays it is essential to have an adapting system of educational institutions, therefore in this thesis analysis have been conducted about parents’ opinion of various services which pre-school educational institutions provide. Goal of this investigation: To analyze the variety of pre-school educational institutions and services for children that attends or absent them and their families. Aim of this investigation: To determine the variety of pre-school educational institutions for children who attend or absent these institutions and the services that are provided by them and compare these two branches. A hypothesis state, that pre-school educational institution’s services does not meet the changed society’s demands, nor there are sufficient of them. Poll respondents are: 1190 parents, from which 898 people whose children attend pre-school educational institutions and 292 parents’ children that do not attend them. Parents have been chosen from different Lithuania’s cities and areas. Poll shows that hypothesis of this investigation can be confirmed. More services are provided for children who attend these institutions, compared to children that do not. In this case system ought to be carefully rethought and organized more efficiently. Key-words: children attending services, family policy, services provided for families and children, pre-school educational institution attend or absent children, variety of services.

This study examines the experiences of young adult women raised in non-resident father households in Tlokwe Local Municipality, North West. Focus groups and face-to-face interviews were conducted with 34 young women between the ages 18-25. Five important, nuanced themes emerged, these are: a) fathers who are physically present but emotionally absent, b) fathers who are physically present but uninvolved, c) fathers who are physically absent but involved, d) fathers who are physically present and involved and e) fathers who are absent and uninvolved. Non-resident fatherhood remains a challenge in the Tlokwe Municipality, most of the participants had never met their biological fathers. The study revealed the frustration young women feel towards their mothers and maternal grandparents for caring more about maintenance than they do about a healthy father-daughter relationship. The study further revealed a deep-seated need for close proximity and an involved type of fathering among the young women. / Sociology / M.A. (Sociology)

Thesis (M. A. (Social Work)) -- University of Limpopo, 2021 / The phenomenon of absent fathers continues to be one of the major social problems which affect families globally. This study has examined the experiences of adolescent boys who grow up without fathers in single-mother families in Bakenberg village in Limpopo Province. The objectives of this study were to establish the experiences of adolescent boys with absent fathers, to describe the challenges faced by adolescent boys in growing up without a father and to determine their understanding of the role and value of having a father. A qualitative approach was used for this study. This approach was complemented by the use of a descriptive phenomenological research design for its focus on lived human experiences and the meanings participants assigned to those experiences. A purposive sampling technique was used to collect data from 18 adolescent boys through face-to-face interviews and as well as focus group discussions. The data collected was analysed using the thematic analysis method. The findings of this study showed that participants regarded fathers as an important figure in their lives and their families and his absence brought about financial challenges, poor academic progress, indulgence in alcohol and smoking brought about by negative outside influences as well as lack of immediate gender role model. The study also revealed that in the absence of fathers, these boys end up being compelled to play the role of the man in their families. For the participants in this study, other male figures such as uncles and grandfathers played a vital role in as far as gender specific roles and identity development is concerned. The study encourages more research into issues that impact negatively the children in one-parent families. The study also draws attention to the necessity to discover the reasons for the disintegration of the family structure, thereby highlighting a serious national and global problem which needs to be addressed for the health and well-being of our people because families form the foundation of a country‟s citizenry.