Hirschsprung Disease – Clinical Relevance of RET Mutations

2020 ◽  
Author(s):  
Julia Katharina Wenskus ◽  
Deirdre Vincent ◽  
Maja Hempel ◽  
Konrad Reinshagen
Keyword(s):  
Genetic Counseling ◽  
Clinical Relevance ◽  
Hirschsprung Disease ◽  
Chromosomal Locus ◽  
Ret Mutation ◽  
The Family ◽  
History Of ◽  
Genetic Mechanisms ◽  
And Gender ◽  
Incomplete Picture

AbstractIntroduction To date, several genes involved in the pathogenesis of HD have been recognized. Out of these, the RET gene (chromosomal locus 10q11), one of the first genes identified in combination with HD, is still considered the basis for HD development. However, even with over a hundred RET gen coding sequence mutations identified, the mutations do not fully explain the observed sex bias of HD and the elevated risk of developing HD among siblings. Thus, our aim was to evaluate the clinical relevance of an as yet undescribed genotype in a family with HD to improve genetic counseling for families with RET mutation-associated HD.Patients This case report provides an overview of a family with a history of HD with a novel, unreported autosomal dominant RET mutation.Results/Summary The family examined in this study clearly demonstrates that (1) the genotype to phenotype correlation of patients with RET mutation-associated HD is not directly related, and (2) genetic mechanisms underlying the different HD phenotypes, as well as the model of inheritance of HD, are complex and not yet fully understood. As such, a multifactorial genesis of HD appears more likely and should be the center of genetic counseling for concerned families. Having identified another RET mutation with a possible correlation of severity of HD and gender will aid in filling the gaps of the incomplete picture of the pathogenesis of HD.

scholarly journals Treatment of what?

2005 ◽  
Vol 22 (1_suppl) ◽  
pp. 45-61 ◽  
Author(s):  
Johan Edman
Keyword(s):  
Family Policy ◽  
Social Issues ◽  
Institutional Care ◽  
Alcohol Abusers ◽  
Protest Movements ◽  
Care Services ◽  
The Family ◽  
History Of ◽  
Problem Formulations ◽  
And Gender

■ Aims The aim of this article is to investigate the problem formulations – the preconceptions about causes and effects and the possible solutions to the problems of alcohol abuse – that characterized the compulsory institutional care of alcohol abusers in Sweden in the 20th century. The article focuses on problem formulations that actually were practised in the institutions. ■ Methods & Data The main source material is to be found in the archives of four institutionalized care establishments and consists of official reports, correspondence, supply estimates, circulars for consideration and – above all – patient records. From this material you can learn about the institutions' struggle for autonomy, expansion and legitimacy, and also about the clients' characteristics and how the clients were viewed. The study of the archives allows you to form a picture of the problem formulations that affected the activities in the institutions directly, a picture that goes beyond the more abstract expectations preferred by official reports and legislation. ■ Results Within the compulsory institutional care actually carried out, the problem formulations that were stipulated in the gender-neutral legislation and vague regulations became gender-specific and precise. The treatment of alcohol abusers was a class and gender related project, aiming not only at encouraging male diligence and the fulfilling of a man's maintenance obligation but also at female virtuousness and concern for the family. ■ Conclusions The history of alcohol abusers' treatment shows that alcohol itself has been a secondary factor in problem definitions which have let themselves be attached – via perceived links with either cause or effect – to more overarching social issues in Sweden. The concerns of emergent family policy in the 1940s, the developmental optimism and scientistic passions of the 1950s, and the systemically critical protest movements of the 1970s are all clearly reflected in trends within social care services for alcohol abusers – albeit much more often at the level of discourse than of praxis.

Introduction

2018 ◽  
Author(s):  
Rosemary L. Hopcroft
Keyword(s):  
Social Sciences ◽  
Cultural Evolution ◽  
Ethnic Relations ◽  
Sex And Gender ◽  
Race And Ethnic Relations ◽  
The Third ◽  
The Social ◽  
The Family ◽  
History Of ◽  
And Gender

This chapter provides an overview of The Oxford Handbook of Evolution, Biology, and Society. Chapters in the first part of this book address the history of the use of method and theory from biology in the social sciences; the second part includes chapters on evolutionary approaches to social psychology; the third part includes chapters describing research on the interaction of genes (and other biochemicals such as hormones) and environmental contexts on a variety of outcomes of sociological interest; and the fourth part includes chapters that apply evolutionary theory to areas of traditional concern to sociologists—including the family, fertility, sex and gender, religion, crime, and race and ethnic relations. The last part of the book presents two chapters on cultural evolution.

scholarly journals “De Criciúma para o mundo”: gênero, família e migração

2003 ◽  
Vol 3 ◽  
Author(s):  
Gláucia De Oliveira Assis
Keyword(s):  
Participant Observation ◽  
Individual Choice ◽  
Migration Literature ◽  
Worldwide Population ◽  
The Family ◽  
History Of ◽  
Migration Flows ◽  
And Gender ◽  
The Individual ◽  
Migratory Process

No final do século XX, a recente emigração de brasileiros para o exterior inseriu o Brasil nos novos fluxos da população mundial. Uma das características desses fluxos é o crescimento da participação feminina. Pesquisas recentes têm demonstrado a importância das mulheres nos fluxos migratórios contemporâneos como articuladoras de redes sociais na migração. Essas redes familiares e de parentesco são fundamentais tanto para aqueles que pretendem empreender a ‘aventura’ de migrar quanto para auxiliar nos momentos da chegada ao local de destino. Este artigo pretende demonstrar que a migração não é resultado apenas de uma escolha ‘racional’, mas de estratégias familiares nas quais homens e mulheres estão inseridos. Para percorrer a trajetória dos emigrantes o trabalho de campo se realizou em dois lugares: a cidade de Criciúma (SC) e a região de Boston, nos Estados Unidos. Os dados coletados a partir de entrevistas e de observação participante têm revelado que as mulheres não apenas esperam por seus maridos ou filhos, mas participam efetivamente do processo, integrando e articulando redes de migração. Os dados também sugerem que a migração provoca rearranjos familiares e de gênero ao longo do processo. Abstract The recent emigration of Brazilians, in late XXth century, has inserted Brazil into the new worldwide population flow. One characteristic of these flows is the growth of women in international migration. In the migration literature women participation in international flows has long been analyzed as subordinated to man, but recent research has illustrated the importance of women in migration flows. This paper intends to demonstrate that migratory process is resulted not only the individual choice, but also social networks (family, kingship, friendship), in which men and women are inserted. The work discusses data from fieldwork in Criciúma (SC) and in the Boston area, in United States. The data emerged from the interviews and participant observation showing that women not only wait for their husbands or children, but also participate in the process integrating and articulating migration networks. The data also made evident the changes in the family and gender relationships, suggesting that the migratory process rearticulate these relationships. This study therefore evidences that other factors, along with the ones of economics nature, contribute for the decision of migrating and make the history of this flow.

scholarly journals Peran Gender dalam Hubungan Seks pada Wanita Hamil

2020 ◽  
Vol 5 (2) ◽  
pp. 144-149
Author(s):  
Budi Asty Andini ◽  
Khobibah Khobibah ◽  
Mimi Ruspita
Keyword(s):  
Gender Roles ◽  
Pregnant Women ◽  
Total Sample ◽  
Test Results ◽  
Sexual Relations ◽  
The Family ◽  
History Of ◽  
And Gender ◽  
The Village ◽  
The Relationship

Background: Sexual intercourse during pregnancy is a physiological need for pregnant women that is influenced by factors of perception from within oneself and previous experience and gender role factors in the family with the aim of knowing the relationship between gender roles and sexual relations in pregnant women. Methods: Non-experimental research with a population of all pregnant women in the village of Curugsewu in the District of Patean. The total sample of pregnant women receiving antenatal care was 30 with the Kendal statistical test. Results: significance T = 0.022 <0.005 there is a relationship between gender roles and sexual relations of sufficient strength in the negative direction -391*.Conclusion: there is a relationship between gender roles and sexual relations, the husband's role is very dominant but the frequency of sex in early pregnancy is largely not done because it is influenced by cultural factors and a history of previous abortion sex.

A Prolonged Abrogation? The Capitulations, the 1917 Law of Family Rights, and the Ottoman Quest for Sovereignty during World War 1

2020 ◽  
Vol 52 (2) ◽  
pp. 245-260
Author(s):  
Kate Dannies ◽  
Stefan Hock
Keyword(s):  
Ottoman Empire ◽  
Islamic Law ◽  
Family Law ◽  
World War ◽  
Women And Gender ◽  
The Family ◽  
French And English ◽  
History Of ◽  
The Law ◽  
And Gender

AbstractThe 1917 promulgation of a new Ottoman family law is recognized as a landmark moment in the history of Islamic law by scholars of women and gender in the Middle East. Yet the significance of the 1917 law in the struggle over religious jurisdiction, political power, and Ottoman sovereignty has been overlooked in the scholarship on both Ottoman legal reform and World War 1. Drawing on Ottoman Turkish, German, French, and English sources linking internal interpretations of the law and external reactions to its passage, we reinterpret adoption of the family law as a key moment in the geopolitics of World War 1. We demonstrate that passage of the law was a critical turning point in the wartime process of abrogating the capitulations and eliminating the last vestiges of legal extraterritoriality in the Ottoman Empire. The law is situated in its wartime political context and the geopolitical milieu of larger Europe to demonstrate that, although short-lived, the 1917 family law was a centerpiece of the wartime struggle to define extraterritorial rights of the Ottoman Empire, the Great Powers, and their protégés within the empire.

scholarly journals Families and the 1951 New Zealand waterfront lockout

2021 ◽  
Author(s):  
◽  
Grace Millar
Keyword(s):  
New Zealand ◽  
Oral History ◽  
Social History ◽  
Survival Strategies ◽  
Active Involvement ◽  
The Family ◽  
Material State ◽  
History Of ◽  
And Gender ◽  
Historical Accounts

<p>From February to July 1951, 8,000 New Zealand watersider workers were locked-out and 7,000 miners, seamen and freezing workers went on strike in support. These workers and those who were dependent on their income, had to survive without wages for five months. The dispute was a family event as well as an industrial event. The men were fathers, husbands, brothers and sons, and their lack of wages affected the family that they lived with and their wider kin networks. The thesis examines families in order to write a gendered social history of the 1951 waterfront dispute.  The discussion starts by exploring the relationship between waterfront work and watersiders' families before the lockout. Then it turns to examine the material support that families received and the survival strategies used during the dispute. It examines the decisions union branches made about relief and other activities through the lens of gender and explores the implications of those decisions for family members. The subsequent chapters examine the dispute's end and long-term costs on families. The study draws on a mixture of union material, state archives and oral sources. The defeat of the union has meant that union material has largely survived in personal collections, but the state's active involvement in the dispute generated significant records. The oral history of 1951 is rich; this thesis draws on over fifty existing oral history interviews with people involved in the dispute, and twenty interviews completed for this project.  The thesis both complicates and confirms existing understandings of 1950s New Zealand. It complicates the idea of a prosperous conformist society, while confirming and deepening our understanding of the role of the family and gender relationships in the period. It argues that union branches put considerable effort into maintaining the gender order during the dispute and set up relief as a simulacrum of the breadwinner wage. Centring workers' families opens the dispute outwards to the communities they were part of. Compared to previous historical accounts, the thesis describes a messier and less contained 1951 waterfront dispute. This study shows that homes were a site of the dispute. The domestic work of ensuring that a family managed without wages was largely women's and was as much part of the dispute as collective union work, which was often organised to exclude women. The thesis argues that homes and families were the sharp edges of the 1951 waterfront dispute, the site of both its costs and crises.</p>

Utopian Visions of Family Life in the Stalin-Era Soviet Union

2011 ◽  
Vol 44 (1) ◽  
pp. 63-91 ◽  
Author(s):  
Lauren Kaminsky
Keyword(s):  
Soviet Union ◽  
Social Relations ◽  
Child Support ◽  
Private Property ◽  
Legal Framework ◽  
Civil Marriage ◽  
Stalin Era ◽  
The Family ◽  
History Of ◽  
And Gender

Soviet socialism shared with its utopian socialist predecessors a critique of the conventional family and its household economy. Marx and Engels asserted that women's emancipation would follow the abolition of private property, allowing the family to be a union of individuals within which relations between the sexes would be “a purely private affair.” Building on this legacy, Lenin imagined a future when unpaid housework and child care would be replaced by communal dining rooms, nurseries, kindergartens, and other industries. The issue was so central to the revolutionary program that the Bolsheviks published decrees establishing civil marriage and divorce soon after the October Revolution, in December 1917. These first steps were intended to replace Russia's family laws with a new legal framework that would encourage more egalitarian sexual and social relations. A complete Code on Marriage, the Family, and Guardianship was ratified by the Central Executive Committee a year later, in October 1918. The code established a radical new doctrine based on individual rights and gender equality, but it also preserved marriage registration, alimony, child support, and other transitional provisions thought to be unnecessary after the triumph of socialism. Soviet debates about the relative merits of unfettered sexuality and the protection of women and children thus resonated with long-standing tensions in the history of socialism.

A personal Perspective on Challenging Behaviour: ADHD?

1997 ◽  
Vol 22 (4) ◽  
pp. 1-6 ◽  
Author(s):  
Jenny Young-Loveridge
Keyword(s):  
Social Context ◽  
Personal Perspective ◽  
Behaviour Problems ◽  
Challenging Behaviour ◽  
Individual Child ◽  
The Family ◽  
History Of ◽  
Neuropsychological Factors ◽  
And Gender ◽  
The Individual

This paper presents my own personal perspective on the challenging behaviour of my son, and my attempt to theorise about that behaviour using the work on ‘temperament’. The history of ‘attention and behaviour problems’ is briefly outlined, culminating in the most recent work on neuropsychological factors. The paper then considers the ways that various approaches assign the blame/responsibility for ‘problems’ to different locations, including the individual child, the family, and the wider social context. Consideration is given also to the connections between ADHD and gender.

The family, honour and gender in Sicily: models and new research

Modern Italy ◽  
2004 ◽  
Vol 9 (2) ◽  
pp. 263-280 ◽  
Author(s):  
Ida Fazio
Keyword(s):  
Gender Identity ◽  
Economic History ◽  
Women And Gender ◽  
Major Significance ◽  
The Family ◽  
History Of ◽  
And Gender ◽  
New Research

This article shows how the latest research into Sicily's social and economic history calls into question certain well-established interpretations of the history of the family and its structures, the paradigm of Mediterranean honour, and the theory of familism. This new appraisal also highlights the major significance of the history of women and gender identity.

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