scholarly journals MODY GENES;

2013 ◽  
Vol 20 (04) ◽  
pp. 623-633
Author(s):  
ATTIYA KANWAL ◽  
SAHAR FAZAL ◽  
SOHAIL ASGHAR ◽  
Muhammad Naeem
Keyword(s):  
Genetic Screening ◽  
Local Population ◽  
Region Of Interest ◽  
European Population ◽  
Subgroup Discovery ◽  
Specific Primers ◽  
Pakistani Population ◽  
The Family ◽  
Expert Clinician ◽  
Data Source

Objective: Genetic screening of Maturity Onset Diabetes of the Young (MODY) genes has not been performed in Pakistanso far; albeit MODY genes have been noticed in local population. A relevant research will help to establish a scheme for identification andtreatment of MODY. Data Source: The data source for the subgroup discovery was retrieved from PubMed. Study Design: Family affectedby MODY were contacted personaly for descriptive study. The family history was obtained from the representative members of the familyand pedigree was drawn. Setting: The extensive clinical examination of both patients and their unaffected normal relatives was carried outby expert clinician. Period: Specific primers for region of interest in genomic DNA were designed at the IBGE Islamabad using Primer3during last quarter of 2011. Materials & Methods: Mutation detection was performed followed by pattern discovery using subgroupddiscovery technique. Results: Unidentified MODY genes facilitating the cause of a specific diabetes in European population may play acentral role for diabetes characterized by autosomal dominant transmission in Pakistani population. Exclusion study indicates that there isno linkage to the known loci of MODY. Similarly genetic screening results suggest that no mutation is indicated in this examined family inMODY genes. Conclusion: There may be some environmental factors involved in causing this disease in this family; otherwise thisdisease is due to mutation in other reported MODY genes which are not screened in this study. Subgroup discovery results point out thatall the reported MODY genes have association among themselves revealing 580 patterns.

SISTEM SOSIAL ALA NIKLASH LUHMAN DALAM NOVEL SEPERTIGA MALAM DI MANHATTAN KARYA ARUMI E

2019 ◽  
Vol 7 (2) ◽  
pp. 49
Author(s):  
Anton Wahyudi
Keyword(s):  
Social System ◽  
System Approach ◽  
Research Method ◽  
Qualitative Method ◽  
The Novel ◽  
Original Culture ◽  
The Family ◽  
Data Source ◽  
Social System Approach ◽  
Fictional Story

The novel Sepertiga Malam di Manhattan by Arumi E is very interesting to study. This novel is a novel about the struggle of a family to get happiness. This novel is the Arumi E's 27th newest novel. The struggle in this novel is to make the family happy, expecting for the baby. Before writing the novel, Arumi E did a research in the places written in the novel to achieve a very interesting fictional story and most of this story was taken from the traveling results so it was so interesting. The objective of this research is to describe (1) the Autopoetic System in the novel Sepertiga MalamdiManhattan by Arumi E. (2) The differentiation system in the Novel Sepertiga Malamdi Manhattan by Arumi E.The research method used is in the form of a descriptive qualitative method that uses a social system approach. The method used by the researcher is the dialectical method. The data source used in this research is the novel Sepertiga Malamdi Manhattan by Arumi E, published by Gramedia publisher in 2018. The data collection in this study uses the steps of reading the novel. To collect data, the researcher use any instrument.There are two results of the study: (1) The autopoetic system in the novel Sepertiga MalamdiManhattan by Arumi E. is concerning to some characters who have their own beliefs or rules in their lives who do not want to follow the rules of others, they are more confident in their own way to success and purpose of life. (2) The system of differentiation in the novel Sepertiga Malamdi Manhattan by Arumi E. is covering the handling of changes in the environment, the characters are able to adapt to the new environment, which has a different culture from the original culture. This shows evidence of the system autopoetic and differentiation in the novel Sepertiga MalamdiManhattan by Arumi E.

scholarly journals Violence against adolescents: an analysis based on the categories gender and generation

2014 ◽  
Vol 48 (spe) ◽  
pp. 102-108 ◽  
Author(s):  
Rafaela Gessner ◽  
Rosa Maria Godoy Serpa da Fonseca ◽  
Rebeca Nunes Guedes de Oliveira
Keyword(s):  
Family Environment ◽  
Qualitative Data ◽  
Descriptive Study ◽  
Gender Violence ◽  
Structured Interviews ◽  
The Family ◽  
Data Source ◽  
Spss Software ◽  
Victims Of Violence ◽  
Quantitative And Qualitative Methods

Exploratory and descriptive study based on quantitative and qualitative methods that analyze the phenomenon of violence against adolescents based on gender and generational categories. The data source was reports of violence from the Curitiba Protection Network from 2010 to 2012 and semi-structured interviews with 16 sheltered adolescents. Quantitative data were analyzed using SPSS software version 20.0 and the qualitative data were subjected to content analysis. The adolescents were victims of violence in the household and outside of the family environment, as victims or viewers of violence. The violence was experienced at home, mostly toward girls, with marked overtones of gender violence. More than indicating the magnitude of the issue, this study can give information to help qualify the assistance given to victimized people and address how to face this issue.

scholarly journals Labor allocation dynamics, problem, and strategy for plantation development in Indonesia

2021 ◽  
Vol 892 (1) ◽  
pp. 012092
Author(s):  
S Wahyuni ◽  
S H Susilowati ◽  
R D Yofa ◽  
D H Azahari
Keyword(s):  
Time Allocation ◽  
Policy Studies ◽  
Labor Allocation ◽  
Female Workers ◽  
Participation Of Women ◽  
The Family ◽  
Data Survey ◽  
Plantation Development ◽  
Data Source ◽  
Gender Based

Abstract Women have important role in farming activities they have and running their household. This paper aims to analyze gender-based working time allocation in farming plantation to support the fifth SDGs “gender equality”. The data source was from a micro panel data survey of the National Farmers Panel (PATANAS) done by the Indonesian Center for Agricultural Socio Economic and Policy Studies, Ministry of Agriculture, in 2009 and 2018. The qualitative research was adopted, data analyzed descriptively by comparing results in 2009 and 2018. The results showed that the time allocation for female workers outside the family per hectare in 2018 increased compared to 2009 for sugarcane, rubber, and cacao commodities. The allocation of labor time in women’s families also increased in sugarcane (+ 37%) and rubber (+ 33%) but decreased for cacao (-55%) and oil palm (-42%) because were replaced by labor from outside the family. The allocation of time for labor within the family and outside the family in both 2009 and 2018 was dominated by male workers. Male and female laborer have certain activity in plantation farming and in general wages of male laborers are higher than those of women. In 2009 the labor wage difference was IDR 5,163 and getting higher in 2018 ranging from IDR 6,048 (cacao) to IDR 9,302 (sugarcane). Suggested that to increase the participation of women in plantation farming, special improvement should be addressed to women’s capacities in technical, managerial, wages system and problems of women’s working on plantations which showed increasing labor.

scholarly journals Inventory of mollusks from the estuary of the Paraíba River in northeastern Brazil

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Silvio Felipe Barbosa Lima ◽  
◽  
Rudá Amorim Lucena ◽  
Galdênia Menezes Santos ◽  
José Weverton Souza ◽  
...  
Keyword(s):  
Species Richness ◽  
Environmental Monitoring ◽  
Local Population ◽  
Abundant Species ◽  
Coastal Ecosystems ◽  
Economic Importance ◽  
Northeastern Brazil ◽  
Marine Mollusks ◽  
The Family

Abstract: Coastal ecosystems of northeastern Brazil have important biodiversity with regard to marine mollusks, which are insufficiently studied. Here we provide an inventory of mollusks from two sites in the estuary of the Paraíba River. Mollusks were collected in 2014 and 2016 on the coast and sandbanks located on the properties of Treze de Maio and Costinha de Santo Antônio. The malacofaunal survey identified 12 families, 20 genera and 21 species of bivalves, 17 families, 19 genera and 20 species of gastropods and one species of cephalopod. Bivalves of the family Veneridae Rafinesque, 1815 were the most representative, with a total of five species. Gastropods of the family Littorinidae Children, 1834 had the greatest species richness. The most abundant species were: Neritina virginea (Linnaeus, 1758), Brachidontes exustus (Linnaeus, 1758), Crassostrea brasiliana (Lamarck, 1819), Cerithium atratum (Born, 1778), Anomalocardia brasiliana (Gmelin, 1791), Parvanachis obesa (C. B. Adams, 1845), Phrontis polygonata (Lamarck, 1822), Littoraria angulifera (Lamarck, 1822), L. flava (King, 1832), Tagelus plebeius (Lightfoot, 1786), Echinolittorina lineolata (d'Orbigny, 1840) and Iphigenia brasiliensis (Lamarck, 1818). The results show that the study area has considerable species richness of Mollusca, requiring environmental monitoring in the region mainly due to the economic importance of some species to the local population.

scholarly journals Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 698 ◽  
Author(s):  
Rossella Elisei ◽  
Alessia Tacito ◽  
Teresa Ramone ◽  
Raffaele Ciampi ◽  
Valeria Bottici ◽  
...  
Keyword(s):  
Genetic Screening ◽  
De Novo ◽  
Germline Mutations ◽  
Pathogenic Role ◽  
Medullary Thyroid ◽  
Variants Of Unknown Significance ◽  
The Family ◽  
Unknown Significance ◽  
Hereditary Medullary Thyroid Carcinoma ◽  
Sporadic Cases

Background: Pathogenic germline mutations affecting the RET proto-oncogene underlie the development of hereditary medullary thyroid carcinoma (MTC). The aims of this study were to evaluate the prevalence of germline RET mutations in a large series of MTC, collected over the last 25 years, and to reappraise their clinical significance. Methods: We performed RET genetic screening in 2031 Italian subjects: patients who presented with sporadic (n = 1264) or hereditary (n = 117) MTC, plus 650 relatives. Results: A RET germline mutation was found in 115/117 (98.3%) hereditary and in 78/1264 (6.2%) apparently sporadic cases: in total, 42 distinct germline variants were found. The V804M mutation was the most prevalent in our cohort, especially in cases that presented as sporadic, while mutations affecting cysteine residues were the most frequent in the group of clinically hereditary cases. All M918T mutations were “de novo” and exclusively associated with MEN2B. Several variants of unknown significance (VUS) were also found. Conclusions: a) RET genetic screening is informative in both hereditary and sporadic MTC; b) the prevalence of different mutations varies with V804M being the most frequent; c) the association genotype–phenotype is confirmed; d) by RET screening, some VUS can be found but their pathogenic role must be demonstrated before screening the family.

scholarly journals Kompetensi Mengajar Calon Guru SD (Studi Kasus Mahasiswa Program Studi PGSD FKIP Universitas Muhammadiyah Palangkaraya)

2014 ◽  
Vol 14 (1) ◽  
pp. 29-37
Author(s):  
Ady Ferdian Noor ◽  
Fazakkir Noor
Keyword(s):  
Qualitative Research ◽  
Research Strategy ◽  
Case Research ◽  
The Family ◽  
Data Source ◽  
The Subject ◽  
Scientific Objects ◽  
Study Type ◽  
And Task

The method used qualitative research methods case study type. This qualitative study using this type of case research strategy. Riduwan (2005) suggested Qualitative Methods is a research method that is used to examine the condition of scientific objects, where the researcher is a key instrument. Qualitative research uses the natural environment as a data source directly. Situation good education within the family, school, and community, as it is (naturally) without any changes and intervention by the researcher, is the object of qualitative research. Silalahi (2003: 62) and Sudjana and Ibrahim (2001: 69-71) argues the case study are (a) a study that will involve us in a more in-depth investigation and a thorough examination of the behavior of an individual, (b) research on the background rear and conditions of individuals, groups, or communities with the aim to provide a complete picture of the subject or event under study, and (c) a study conducted intensive, detailed and in-depth on the organism, institution or certain symptoms. This case study is used as the subject under study narrow and limited. The results of the research that students Studies Program PGSD FKIP Muhammadiyah University of Palangkaraya year class of 2012 perform individual tasks and task groups is seen that the ability to teach students, especially in terms of confidence, dare to appear, the sound loud and clear and the characters / characteristic that has not been fully owned also less able to control the situation and condition of class.

scholarly journals Nilai Religi dalam Novel Mengejar Halalnya Syabila Karya Noor Ruhaimin

2019 ◽  
Vol 4 (2) ◽  
pp. 252-263
Author(s):  
Heppy Lismayanti ◽  
Haris Supratno ◽  
Tengsoe Tjahjono
Keyword(s):  
Data Analysis ◽  
Descriptive Analysis ◽  
Religious Values ◽  
The Novel ◽  
Analysis Method ◽  
Research Results ◽  
Data Analysis Technique ◽  
Analysis Technique ◽  
The Family ◽  
Data Source

This study examines the religious values ​​contained in the novel Mengejar Halalnya Syabila by Noor Ruhaimin. The purpose of this study is to: (1) describe aqidah, (2) describe worship, and (3) describe morals in the novel Mengejar Halalnya Syabila by Noor Ruhaimin. The method in this research is descriptive analysis method. The data source in this study is the novel Mengejar Halalnya Syabila by Noor Ruhaimin. This novel was published by BanyuwangiNaa Publisher in 2018. The collection technique in this research is the text observation technique and the data analysis technique used is interpretive descriptive technique. Based on the research results obtained: Religious values ​​associated with aqidah namely, (a) faith in God, (b) faith in books. (c) faith in the Rasul, and (d) faith in qada and qadar. Religious values ​​related to worship are, (a) public worship, such as helping in the family (b) special worship. Religious values ​​related to morals, namely, (a) morals towards God. (b) the morals of both parents. (c) morals towards oneself (d) morals towards family and relatives. (e) morals towards the community

scholarly journals Peran Tuha Peut Dalam Pengembangan Reusam Perlindungan Anak Yang Berhadapan Dengan Hukum (ABH) Di Aceh Besar

Simulacra ◽  
2018 ◽  
Vol 1 (1) ◽  
Author(s):  
Mansari Mansari
Keyword(s):  
Child Protection ◽  
Secondary Data ◽  
Community Leaders ◽  
Primary Data ◽  
The Public ◽  
The Family ◽  
Written Form ◽  
Public Behavior ◽  
Data Source

<em>Some gampongs in Aceh Besar have established gampong reusam on child protection in written form. Reusam which usually regulates public behavior about habits undertaken by the public in an unwritten form, is now beginning to be written in written form. The formation of gampong reusam was formed by Tuha Peut Gampong which was discussed together with the keuchik and community leaders of the gampong. This research aims to find out how the process of reusam formation of child protection in Aceh Besar and how the role of Tuha Peut in determining the direction of development of child protection reusam in Aceh Besar. This research uses qualitative research with data source from primary data obtained through interview with Keuchik, Tuha Peut Gampong and Female Woman. Secondary data is obtained through documentation studies in the library. The results showed that the process of forming a village reusam on Child Protection was established through the involvement of elements and community leaders, even women were involved in the preparation. Tuha Peut has an important role in the development of a gampong reusam that adopts local and applicable local values in Aceh. These values are deliberation, mediation and the use of adat sanctions for child offenders in cases that occur, such as Advice, Warning, apology, fines, compensation, returned to the family, Establishment of Child Protection Committees dealing with law and engagement government agencies.</em>

scholarly journals POLÍTICAS PÚBLICAS NO BRASIL: O CASO DO PROGRAMA DE AQUISIÇÃO DE ALIMENTOS DA AGRICULTURA FAMILIAR NO ESTADO DE SÃO PAULO, BRASIL

GEOgraphia ◽  
2021 ◽  
Vol 23 (50) ◽  
Author(s):  
Jonatan Alexandre De Oliveira ◽  
José Giacomo Baccarin
Keyword(s):  
Sao Paulo ◽  
The State ◽  
São Paulo ◽  
Rural Credit ◽  
Family Farmers ◽  
Income Family ◽  
The Family ◽  
Family Agriculture ◽  
Space Organization ◽  
Data Source

Tem-se como principal objetivo analisar a organização do Programa de Aquisição de Alimentos da Agricultura Familiar (PAA) no espaço agrícola do estado de São Paulo, Brasil. Utilizamos como fonte de dados as ações da superintendência da Companhia Nacional de Abastecimento CONAB-SP (2012). De acordo com as ações do PAA no espaço agrícola paulista, constatou-se que o PAA apresentou desempenho relativo melhor que o conjunto das outras superintendências regionais; a modalidade Compra com Doação Simultânea atinge número mais expressivo de municípios; o PAA vem sendo aplicado com maior intensidade em favor dos agricultores familiares e assentados de regiões administrativas mais empobrecidas; há forte vínculo do PAA com os assentamentos de reforma agrária; o PAA parece complementar o PRONAF, na medida em que atende com maior intensidade justamente aqueles agricultores com maiores dificuldades de acesso ao programa de crédito rural. Levando-se em conta as intenções expressas formalmente na criação do PAA, em especial aquela de procurar atender os agricultores familiares com menor renda, as análises deste trabalho apontam que a mesma vem sendo cumprida no caso do estado de São Paulo, embora os recursos do Programa e o número de agricultores familiares ainda seja reduzido em relação ao seu público potencial.Palavras chave: Organização Espacial; Regiões Administrativas; Políticas Públicas; Agricultura FamiliarPUBLIC POLICIES IN BRAZIL:  THE CASE OF THE PROGRAM OF ACQUISITION OF FOODS OF FAMILY AGRICULTURE IN THE STATE OF SÃO PAULO, BRAZILAbstract: The main objective is to analyze the organization of the Program of Acquisition of Food of Family Agriculture (PAA) in the agricultural space of the state of São Paulo, Brazil. We used as data source the actions of the Superintendence of National Supply Company CONAB-SP (2012).  According with the actions of the PAA in the agricultural space of São Paulo, it was verified that the PAA presented a relative better performance in relation to the set of other regional superintendence; the Buy with Simultaneous Donation modality reaches the most expressive number of municipalities; the PAA has been applied with greater intensity in favor of the family farmers and settlers of more impoverished administrative regions; There is a strong link between the PAA and the agrarian settlements; the PAA seems to complement PRONAF, since is responds with greater intensity to those farmers with greater difficulties of access to the rural credit program. Taking into account the intentions expressed formally in the creation of the PAA, especially that of seeking to provide the lowest income family farmers. The analyzes of this work indicate that it has been fulfilled in the case of the state of São Paulo. Although the resources of the Program and the number of family farmers is still small relative to its potential audienceKeywords: Space Organization; Administrative Regions; Public Policy; Family Farming.POLÍTICAS PÚBLICAS EN BRASIL: EL CASO DEL PROGRAMADE ADQUISICIÓN DE ALIMENTOS PARA LA AGRICULTURA FAMILIAR EN EL ESTADO DE SÃO PAULO, BRASILResumen: El objetivo principal es analizar la organización del Programa de Adquisición de Alimentos para la Agricultura Familiar (PAA) en el espacio agrícola del estado de São Paulo, Brasil. Utilizamos como fuente de datos las acciones de la superintendencia de la Compañía Nacional de Abastecimiento CONAB-SP (2012). Según las acciones del PAA en el espacio agrícola en São Paulo, se descubrió que el PAA tuvo un desempeño relativamente mejor que el conjunto de otras superintendencias regionales; la modalidad de Compra con Donación Simultánea llega a un mayor número de municipios; El PAA se ha aplicado con mayor intensidad a favor de los agricultores familiares y los asentados de regiones administrativas más empobrecidas; existe un fuerte vínculo entre el PAA y los asentamientos de reforma agraria; el PAA parece complementar al PRONAF, en la medida en que sirve con mayor intensidad precisamente a aquellos agricultores con mayores dificultades para acceder al programa de crédito rural. Teniendo en cuenta las intenciones expresadas formalmente en la creación del PAA, especialmente la de tratar de servir a los agricultores familiares con menores ingresos, los análisis de este trabajo muestran que se ha cumplido en el caso del estado de São Paulo, aunque los recursos del El programa y el número de agricultores familiares todavía se reducen en relación con su audiencia potencial.Palabras clave: Organización espacial, Regiones Administrativas, Políticas públicas, Agricultura familiar.

Emigrants, Travelers, and Escapers: the Haidutoff Family between Occident and Orient

2021 ◽  
Vol 30 (2) ◽  
pp. 166-184
Author(s):  
Georgeta Nazarska
Keyword(s):  
Social Interactions ◽  
Great Depression ◽  
Local Population ◽  
The West ◽  
Professional Networks ◽  
Cultural Stereotypes ◽  
Labor Migrations ◽  
The Great Depression ◽  
International Environment ◽  
The Family

The article examines the migrations of young Bulgarians abroad in the 1920-1930s, caused by the Great Depression and in particular the labor migrations of Bulgarian musicians in Egypt and the Near East and their cultural and social interactions with the Bulgarian diaspora there and with the local population. The focus of the study is the travels of the Haidutoff family – a musical trio that has made a living in Egypt for many years, and in the 1920s-1930s traveled and gave concerts in Argentina, France, Italy, Germany, Belgium, Switzerland, Australia and Java island, then returned to Bulgaria and re-emigrated to Egypt. The text analyzes how their mobility is facilitated by blood-related networks, professional networks and interest networks, how it enables their nationalism to interact with the international environment, and how they perceive the West and the East (Orient) as traveling people through their own cultural stereotypes and social distances. The fate of the violinist Nedyalka Simeonova – the daughter-in-law in the family and a member of the musical trio – is traced in detail.

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