scholarly journals Die Ontwikkeling Van Genetiese Dienste Van Die Departement Van Gesondheid — 1978

Curationis ◽  
1979 ◽  
Vol 1 (4) ◽  
Author(s):  
J. Hof
Keyword(s):  
Genetic Factors ◽  
Genetic Disorders ◽  
Community Health Services ◽  
Organisational Structure ◽  
Functional Activities ◽  
The Family ◽  
Hereditary Disorders ◽  
And Training ◽  
Diagnostic Investigations

Genetic Services may be regarded as a new addition to community health services, and are currently in the process of institutionalisation. The provision of this “ advanced” health service is long overdue, considering the widespread prevalence of genetic disorders, the role of genetic factors in disease in general, the possibilities of prevention, and the devastating implications of congenital and hereditary disorders for the family and community. The functional activities of the service are based on detection of high-risk and affected individuals, which includes diagnostic investigations and surveillance, genetic counselling and education and training. The nature of the service is outlined with particular reference to the genetics nurse. Designing a suitable organisational structure and providing essential facilities hallmarked the first phase in the process of institutionalising the service. In the next phase, commencing in 1979, the service will be implemented more formally with emphasis on evaluation and improvement of the service.

Familial trichotillomania: role of genetic factors in the determination of subtypes

2013 ◽  
Vol 25 (3) ◽  
pp. 187-190
Author(s):  
Ghaffari Nejad Alireza ◽  
Fariborz Estilaee ◽  
Mohammad M. Sadeghi
Keyword(s):  
Psychiatric Disorders ◽  
Serotonin Receptors ◽  
Genetic Factors ◽  
Genetic Disorder ◽  
Family Members ◽  
Hair Pulling ◽  
Psychiatric Syndrome ◽  
The Family

ObjectivesTrichotillomania (TTM) is a psychiatric syndrome characterised by the inability to control repetitive hair pulling. Psychiatric data reveal that TTM is not usually prevalent among all family members of patients, and so far only one case of familial TTM has been reported.MethodsIn this study, we report a case of familial TTM that afflicted four sisters and discuss the importance of genetic factors in this disorder.ResultsThis report suggests that, similar to many other psychiatric disorders, TTM can be detected in other family members and that genetic factors not only have a significant role in the development of such disorders but also in determination of the disorder subtype. This report also shows that the comorbidities in one member of the family might predict the existence of comorbidities in other members. On the basis of response to medication.Conclusionthe authors suggest that a genetic disorder like polymorphism in serotonin receptors or dopamine can cause such a disorder.

scholarly journals PERAN PEMERINTAH DAERAH DALAM PEMBERDAYAAN PEREMPUAN DI KELURAHAN KALEGOWA, KECAMATAN SOMBA OPU KABUPATEN GOWA

2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Adzimat Tinur Haque ◽  
Budi Setiawati ◽  
Nuryanti Mustari
Keyword(s):  
Family Planning ◽  
Women's Empowerment ◽  
Women’S Empowerment ◽  
Governmental Organization ◽  
Descriptive Research ◽  
The Family ◽  
Political Economic ◽  
And Training

 Various phenomena related to women both in the political, economic, social, cultural and existential creates differences between men and women. Who gave birth to the idea that the position of women and men differ, women tend to be subordinate in the household. Therefore, in this paper want to see the role of the Family Planning and Women's Empowerment in improving the quality of women. Peneliian uses descriptive research is data collected kualitatiff dideskriptifkan based on direct interviews and direct observation in the field. Role of the Family Planning and Women's Empowerment in Women's Empowerment is to socialize the business group to participants empowerment, mentoring ranging from the preparation, implementation and evaluation, and the latter is training, which includes the training of making traditional snacks, training party bag and training dressmaking , in the event that serves as the implementing agency ie Family Planning and women's empowerment assisted by NGOs (Non Governmental Organization) as well as the PKK, while functioning as a participant that will empower women. With the passage of the role women can already malakukan Access, Control, Benefits and Participation  Berbagai fenomena terkait dengan perempuan baik dalam bidang politik, ekonomi, sosial, dan budaya menciptakan perbedaan eksistensial antara laki-laki dan perempuan. Hingga melahirkan pemikiran bahwa kedudukan perempuan dan laki-laki berbeda, perempuan cenderung sebagai subordinat dalam rumah tangga. Untuk itu, dalam tulisan ini hendak melihat peran Badan Keluarga Berencana dan Pemberdayaan Perempuan dalam meningkatkan kualitas perempuan. Peneliian ini menggunakan penelitian deskriptif kualitatiff yaitu data yang dikumpulkan dideskriptifkan berdasarkan hasil wawancara langsung dan pengamatan langsung di lapangan. Peran Badan Keluarga Berencana Dan Pemberdayaan Perempuan dalam Pemberdayaan Perempuan yaitu dengan melakukan sosialisasi tentang kelompok usaha kepada peserta pemberdayaan, pendampingan mulai dari tahap persiapan, pelaksanaan hingga evaluasi, dan yang terakhir yaitu pelatihan yang didalamnya berisi pelatihan pembuatan jajanan pasar, pelatihan tas pesta dan pelatihan penjahitan, dalam kegiatan tersebut yang berfungsi sebagai pelaksana yaitu Badan Keluarga Berencana Dan Pemberdayaan Perempuan yang dibantu oleh LSM ( Lembaga Swadaya Masyarakat) serta tim penggerak PKK, sedangkan yang berfungsi sebagai peserta yaitu perempuan yang akan melakukan pemberdayaan. Dengan berjalannya peran tersebut perempuan sudah bisa malakukan Akses, Kontrol, Manfaat dan Partisipasi.

scholarly journals Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome

2021 ◽  
pp. mcs.a006122
Author(s):  
Mohammad Marhabaie ◽  
Scott E Hickey ◽  
Katherine E Miller ◽  
Olivia Grischow ◽  
Kathleen M Schieffer ◽  
...  
Keyword(s):  
High Throughput Sequencing ◽  
De Novo ◽  
Genetic Disorders ◽  
Missense Variant ◽  
Hyperinsulinemic Hypoglycemia ◽  
Spermine Synthase ◽  
Genetic Mosaicism ◽  
The Family ◽  
Bilateral Sensorineural Hearing Loss

There is increasing recognition for the contribution of genetic mosaicism to human disease, particularly as high-throughput sequencing has enabled detection of sequence variants at very low allele frequencies. Here, we describe an infant male who presented at 9 months of age with hypotonia, dysmorphic features, congenital heart disease, hyperinsulinemic hypoglycemia, hypothyroidism, and bilateral sensorineural hearing loss. Whole-genome sequencing of the proband and the parents uncovered an apparent de novo mutation in the X-linked SMS gene. SMS encodes spermine synthase, which catalyzes the production of spermine from spermidine. Inactivation of the SMS gene disrupts the spermidine/spermine ratio, resulting in Snyder-Robinson syndrome. The variant in our patient is absent from the gnomAD and ExAC databases and causes a missense change (p.Arg130Cys) predicted to be damaging by most in silico tools. While Sanger sequencing confirmed the de novo status in our proband, PCR and deep targeted resequencing to ~84,000-175,000x depth revealed that the variant is present in blood from the unaffected mother at ~3% variant allele frequency. Our findings thus provided a long-sought diagnosis for the family while highlighting the role of parental mosaicism in severe genetic disorders.

Genetic relatedness as a determinant of predisposition to Ascaris lumbricoides and Trichuris trichiura infection

Parasitology ◽  
1994 ◽  
Vol 108 (1) ◽  
pp. 77-80 ◽  
Author(s):  
L. Chan ◽  
D. A. P. Bundy ◽  
S. P. Kan
Keyword(s):  
Ascaris Lumbricoides ◽  
Genetic Basis ◽  
Genetic Factors ◽  
Genetic Relatedness ◽  
Infection Intensity ◽  
Trichuris Trichiura ◽  
Familial Predisposition ◽  
The Family ◽  
Host Genetic

SUMMARYThe present study examines the role of host genetics in predisposition to Ascaris lumbricoides and Trichuris trichiura infection, by comparing the associations between age-standardized infection intensities of parents and their children (genetically related), with age-standardized infection intensities of parents alone (not related), within families previously demonstrated to exhibit familial predisposition. The lack of a consistent trend in infection intensity associations within families, in particular the lack of a stronger association between parents and their children than between unrelated parents, suggests that host genetic factors are not a major determinant of infection status. If there is a genetic basis for predisposition, then the data suggest that the effects of this genetic basis are overwhelmed by other, environmental or behavioural features of the family household.

scholarly journals Peningkatan pemberdayaan keluarga dalam upaya pencegahan stunting melalui taman gizi di Kelurahan Sumbersari Kabupaten Jember

2021 ◽  
Vol 2 (1) ◽  
pp. 30-36
Author(s):  
Kustin Kustin
Keyword(s):  
Community Service ◽  
Health Improvement ◽  
Family Program ◽  
The Family ◽  
Service Activity ◽  
Level Of Knowledge ◽  
Training Activities ◽  
And Training ◽  
Social Sectors

Salah satu masalah yang dihadapi Indonesia terhadap masalah kualitas Sumber Daya Manusia (SDM) adalah masalah gizi. Masalah gizi yang dihadapi salah satunya adalah masih tinggi jumlah anak diindonesia yang tinggi badannya di bawah standart atau pendek (stunting). Stunting merupakakan salah masalah multisektoral baik dari bidang kesehatan, pertanian, ekonomi maupun sosial. Salah satu intervensi yang bisa diberikan adalah pemantauan tumbuh kembang anak, penatalaksanaan gizi kurang/buruk, promosi kesehatan dan lain sebagainya. Intervensi yang diberikan pada pengabdian masyarakat in adalah pendidikan dan pelatihan untuk meningkatkan kesadaran masyarakat akan stunting dan bahayanya, juga sosialisasi guna meningkatkan pengetahuan tentang pencegahan stunting Stunting is one of the main multisector problems in the health, agriculture, economy and social sectors. One of the interventions that can be given is management of malnutrition and health improvement. The interventions provided in this community service are education and training involving the role of the family in nutrition gardening activities around the house to provide healthy food with the nutrition awareness family program (KADARZI). This community service activity aims to increase the role and empowerment of families in efforts to prevent stunting through a nutrition garden. This family empowerment method is carried out by providing health education and socialization, land use training and making complementary foods for breast milk. This training activity was attended by 30 people. The results of the evaluation of activities from the first meeting to the last obtained the results before the training activities were that the level of knowledge was mostly lacking  namely 73% and after participating in activities and training the level of knowledge increased to good knowledge of  81%. This KADARZI training is an effort to help mothers save on shopping expenses for purchasing vegetables, this is because it has been fulfilled by planting vegetables around their home land.

Treatment of Chronic Allergic Rhinitis and Sinusitis with Homeopathy

2017 ◽  
Vol 30 (02) ◽  
pp. 123-128
Author(s):  
Pranali Wandile
Keyword(s):  
Allergic Rhinitis ◽  
Respiratory Tract ◽  
Chronic Rhinosinusitis ◽  
Genetic Factors ◽  
Genetic Disorders ◽  
Mucosal Inflammation ◽  
Research Needs ◽  
Upper Respiratory Tract ◽  
Hereditary Disorders ◽  
Upper Respiratory

AbstractAllergic rhinitis and sinusitis are one of the most common chronic upper respiratory tract medical conditions. As they occur simultaneously or coexist together, the correct term for these conditions will be allergic rhinosinusitis. The challenging question arises in mind whether all allergic patients are immune deficient in some way. Therefore, samples from well-diagnosed allergic patients need to be evaluated genetically using a candidate gene and a whole-genome scan approach. A better understanding of the pathogenesis and the causative factors responsible for increased mucosal inflammation is important for the development of new diagnostic and therapeutic tools. Previous research showed the association between sensitisation tendency and the genetic factors associated with allergic upper respiratory tract conditions. More research needs to be conducted on genetic factors component for allergic chronic rhinosinusitis. Homeopathy offers lot of potential in treating various genetic disorders and it has contributed in treating patients with allergic, autoimmune and hereditary disorders worldwide. In homeopathy science, more research needs to be published which includes patient cases—who has been treated successfully with homeopathy medicines for allergic chronic rhinosinusitis.

Pola Asuh Ibu dalam Pendidikan Religius Anak

2021 ◽  
Vol 13 (2) ◽  
pp. 395-412
Author(s):  
Syaiful Rizal
Keyword(s):  
Religious Education ◽  
Rural Children ◽  
Phenomenological Method ◽  
Social And Emotional ◽  
The Family ◽  
Mother Figure ◽  
Qualitative Phenomenological ◽  
The Village ◽  
And Training

The family has a very important role, because the family as the first place the creation of personality and family is the best field in seeding values the value of religious education for children. The role of a mother is so vital in the religious education of children, for a mother to be a figure close to the child in terms of both social and emotional. This study aims to describe how the role of a mother figure in a multi-faith religious education of rural children. This study uses qualitative-phenomenological method. Subject of research are three families. Data was collected by purposive sampling. The results showed the role of a mother multi Religion in the religious education of children in the village Umbulsari there are four stages, namely: a) Educate with etiquette habituation and Training (Parenting), b) Educate the ketauladanan, c) Educate with advice, and d) Educate with supervision

Non-Normative Events and Family Functioning: The Role of the Family Psychologist

1993 ◽  
Author(s):  
Michele Harway ◽  
◽  
Nancy Boyd-Franklin ◽  
Robert Geffner ◽  
Marsali Hansen ◽  
...  
Keyword(s):  
Family Functioning ◽  
The Family
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