Hereditary symphalangism with associated tarsal synostosis and hypophalangism

1993 ◽  
Vol 83 (1) ◽  
pp. 1-9 ◽  
Author(s):  
JE Castle ◽  
S Bass ◽  
IO Kanat
Keyword(s):  
Family Members ◽  
Rare Condition ◽  
Mendelian Inheritance ◽  
Interphalangeal Joint ◽  
Genetic Condition ◽  
Joint Fusion ◽  
Hands And Feet

Symphalangism is a rare genetic condition that may represent the earliest documentation of mendelian inheritance in man. The disorder results in interphalangeal joint fusion in the hands and feet. The authors review this rare condition and present a case study consisting of four generations with 15 affected family members. The association of multiple tarsal synostosis and the previously unreported associated occurrence of pedal hypophalangism in this pedigree is presented.

A Diagnostic Case Study of a Young Man with Russell-Silver Syndrome and Associated Comorbidities

2019 ◽  
Vol 2 (1) ◽  
pp. 12-29
Author(s):  
Boon Hock Lim ◽  
Ban Meng Lee ◽  
Benjamin Kee Kee Ern Lim ◽  
Guo Hui XIE
Keyword(s):  
Response To Intervention ◽  
Mendelian Inheritance ◽  
Diagnostic Information ◽  
Online Mendelian Inheritance ◽  
Silver Syndrome

This is a case study of a young man diagnosed with Russell-Silver Syndrome or RSS for short (Online Mendelian Inheritance in Man® Classification Number #180860) and associated comorbidities. The aim of this paper is to provide diagnostic information about the syndrome with its comorbidities so that educational therapists and other allied professionals working with such individuals will know what to look out for, especially the RSS-associated comorbidities, and in that way, they become better informed in order to know what offer in their Response to Intervention (RtI) for such individuals with RSS.

The Complexity of Work for Women who are HIV Positive: A Case Study in DKI Jakarta

2018 ◽  
Vol 23 (4) ◽  
pp. 203
Author(s):  
Andi Nur Faizah
Keyword(s):  
Qualitative Method ◽  
Family Members ◽  
Hiv Positive ◽  
Difficult Situation ◽  
Women Living With Hiv ◽  
Hiv Positive Women ◽  
And Gender ◽  
Gender Categories ◽  
Living With Hiv

<p>The phenomenon of HIV-AIDS transmission places women in a difficult situation. The loss of family members such as husbands due to AIDS leaves women living with HIV positive in a struggle to access sources of livelihood. The condition of themselves as PLWHA, concerns about being stigmatized, caring for family members, and earning a living are the burdens of life they have to face. In this regard, this paper explores the complexity of the work of HIV-positive women. This study uses a qualitative method with a feminist perspective to get a complete picture of the livelihood of HIV-positive women. Based on interviews with five HIV-positive women, the findings found a link between social, identity, and gender categories that affect their livelihoods. HIV-positive women also transform themselves into their “normal” self by pretending to be healthy, able to work, have quality, and be independent. This is done as a form of resistance to the stigma attached to PLWHA.</p><p> </p><p> </p>

scholarly journals Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lu Cao ◽  
Ruixue Zhang ◽  
Liang Yong ◽  
Shirui Chen ◽  
Hui Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sequence Alignment ◽  
Multiple Sequence Alignment ◽  
Molecular Genetic ◽  
Family Members ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Mendelian Inheritance ◽  
Chinese Family ◽  
Multiple Sequence

Abstract Background Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH. Methods Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence alignment were used to analyse the pathogenicity of mutations. Results A novel missense mutation, c.1529G>A, in the SASH1 gene was identified, and this mutation was not found in the National Center for Biotechnology Information Database of Short Genetic Variation, Online Mendelian Inheritance in Man, ClinVar, or 1000 Genomes Project databases. All in silico predictors suggested that the observed substitution mutation was deleterious. Furthermore, multiple sequence alignment of SASH1 revealed that the p.S510N mutation was highly conserved during evolution. In addition, we reviewed the previously reported DUH-related gene mutations in SASH1 and ABCB6. Conclusion Although the affected family members had identical mutations, differences in the clinical manifestations of these family members were observed, which reveals the complexity of the phenotype-influencing factors in DUH. Our findings reveal the mutation responsible for DUH in this family and broaden the mutational spectrum of the SASH1 gene.

scholarly journals Juxtaposing adherence to COVID-19 regulations and practising proper burial rites: a case study of Zulu Traditional Religion

2021 ◽  
Author(s):  
Evangeline Bonisiwe Zungu
Keyword(s):  
Family Members ◽  
Traditional Religion ◽  
High Likelihood ◽  
The Family ◽  
The World ◽  
Living Dead ◽  
Traditional Societies ◽  
Burial Rites ◽  
Inductive Thematic Analysis

The recent COVID-19 pandemic took the world by storm. The rate of infection and prevalence of death struck fear in the hearts of many across the globe. The high likelihood of infection required continual testing whilst the trauma of bereavement left many distraught. For traditionalists, a principal concern was whether they would be permitted to exhaustively practise their burial rites in the course of mourning their loved ones. The importance of the custom, as it is believed, is to prevent unsettled feelings in family members. This article is aimed at stimulating consideration, reflection and understanding of the concerns experienced by traditional societies surrounding COVID-19 regulations and the non-performance of important burial rites. Surviving family members experience troubled thoughts as a result of the fear of repercussions, which may include the living-dead withholding their protection of the family which consequently will cause ailments and accidents. This article will utilise inductive thematic analysis to interpret the data collected .

scholarly journals Guarantee of the social rights of children with chronic conditions: reinventing care towards civil rights

2021 ◽  
Vol 74 (suppl 4) ◽  
Author(s):  
Tatiana Silva Tavares ◽  
Kênia Lara Silva ◽  
Regina Garcia de Lima ◽  
Elysângela Dittz Duarte
Keyword(s):  
Civil Rights ◽  
Critical Discourse Analysis ◽  
Chronic Conditions ◽  
Family Members ◽  
Social Institutions ◽  
Public Health Education ◽  
The Social ◽  
Multiple Case ◽  
Children With Chronic Conditions

ABSTRACT Objective: To analyze the experiences of families in the exercise of the rights of children with chronic conditions in public health, education and social assistance institutions. Method: ethnographic multiple case study, with qualitative approach, following the theoretical approach of Boaventura Santos. Experiences of the families of these children in a city were studied through interviews with family members, managers and professionals from social institutions (35), participant observations in social spaces (13) and creation of eco-maps (3). Critical Discourse Analysis was performed. Results: the offer of services is lower than the demand, and exclusion processes persist. Given the hegemony of neoliberal and normality ideologies, meetings between family members and professionals revealed obstacles to civil rights; however, when these ideologies were challenged, the realization of their rights was enhanced. Final considerations: the care to promote civil rights requires family members, managers and professionals to develop subjectivities that overcome neoliberal and normality ideologies, recognizing these children as subjects of law.

Penerapan Fungsi Keluarga Dalam Kemampuan Merawat Anggota Keluarga Dengan Stroke

2021 ◽  
Vol 1 (4) ◽  
pp. 359-369
Author(s):  
Putri Ananda Salsabilla ◽  
Ricky Riyanto Iksan ◽  
Sri Atun Wahyuningsih
Keyword(s):  
World Health Organization ◽  
Communicable Disease ◽  
Family Members ◽  
World Health ◽  
Middle Income ◽  
Family Function ◽  
Study Results ◽  
Health Organization ◽  
Non Communicable Disease

ABSTRACT : APPLICATION OF FAMILY FUNCTIONS IN ABILITY TO CARE FOR MEMBERS FAMILIES WITH STROKES Background: Stroke is a non-communicable disease that is one of the leading causes of death and disability rates in the world. Stroke becomes a health threat due to impaired cerebral function, both focal and global, which lasts quickly and lasts more than 24 hours or ends in death without the discovery of the disease other than vascular disorders (World Health, 2017). World Health Organization (2018) stroke sufferers are increasing every year.. It shows that every year there are 13.7 million new cases of stroke, and about 5.5 million deaths occur from stroke. About 70% of strokes and 87% of stroke deaths and disabilities occur in low- and middle-income countries.Objective: Identified Application of Family Function Intervention in the Ability to Care for Family Members With Stroke in the Puskesmas Area of North Meruya Village of West JakartaMethod: This type of research is case studydesign research that according to Basuki Case Study is a form of research on a problem that has the nature of specificity with individual or group targets, even the wider community. In this study, researchers conducted family function interventions in four families with strokes, namely the same four sufferers were given family function interventions.Results: The results of research conducted the influence of affective function, socialization function, economic function, and health care function with the application of nursing care in stroke patients.Conclusion: The conclusion of this study results in the application of family functions in the ability to care for family members with stroke experienced significant changes to intervention. Keywords: Family Function, Caring Ability, Stroke INTISARI : PENERAPAN FUNGSI KELUARGA DALAM KEMAMPUAN MERAWAT ANGGOTA KELUARGA DENGAN STROKE Latar Belakang: Stroke merupakan penyakit tidak menular yang menjadi salah satu penyebab utama angka kematian dan kecacatan di dunia. Stroke menjadi ancaman kesehatan karena gangguan fungsi serebral, baik fokal maupun global, yang berlangsung dengan cepat dan lebih dari 24 jam atau berakhir dengan kematian tanpa ditemukannya penyakit selain dari pada gangguan vaskular (World Health Organization, 2017). World Health Organization (2018) penderita stroke semakin meningkat setiap tahunnya. Menunjukkan bahwa setiap tahunnya ada 13,7 juta kasus baru stroke, dan sekitar 5,5 juta kematian terjadi akibat penyakit stroke. Sekitar 70% penyakit stroke dan 87% kematian dan disabilitas akibat stroke terjadi pada negara berpendapatan rendah dan menengah.Tujuan: Teridentifikasi Penerapan Intervensi Fungsi Keluarga Dalam Kemampuan Merawat Anggota Keluarga Dengan Stroke di Wilayah Puskesmas Kelurahan Meruya Utara Jakarta BaratMetode: Jenis penelitian ini adalah penelitian case studydesign yaitu menurut Basuki Case Study adalah bentuk penelitian suatu masalah yang memiliki sifat kekhususan dengan sasaran perorangan ataupun kelompok, bahkan masyarakat luas.Pada penelitian ini Peneliti melakukan Intervensi Fungsi keluarga pada empat keluarga dengan stroke yaitu keempat penderita sama – sama diberikan Intervensi Fungsi Keluarga.Hasil: Hasil penelitian yang dilakukan adanya pengaruh fungsi afektif, fungsi sosialisasi, fungsi ekonomi, dan fungsi perawatan kesehatan dengan penerapan asuhan keperawatan pada pasien stroke.Kesimpulan: Kesimpulan dari penelitian ini hasil penerapan fungsi keluarga dalam kemampuan merawat anggota keluarga dengan stroke mengalami perubahan yang signifikan terhadap intervensi. Kata Kunci : Fungsi Keluarga, Kemampuan Merawat, Stroke

An Analysis of Contemporary Japanese Rural Families

2014 ◽  
pp. 122-136
Author(s):  
Yoshimi Kataoka
Keyword(s):  
Rural Areas ◽  
Rural Families ◽  
Family Members ◽  
Individual Freedom ◽  
The Family ◽  
Individual Self

Many Japanese researchers have suggested that both Japanese and Western societies are experiencing individualization of the family; whether or not this is the case in Japanese rural farming villages remains unclear. The purpose of this chapter is to investigate this question using a case study. The research involves interviews of families living in rural areas within the Shimane Prefecture, each engaged in agriculture, forestry, and/or fishery. The emerging picture is that it is increasingly difficult to find traditional Ie in rural farming villages today. For the rural farming family, individual freedom is important. However, respecting individuals seems to occur for the purposes of maintaining unity of the family as a group rather than for the purpose of individual self-realization. Therefore, emphasizing individual freedom does not mean conflict among family members (i.e., enforcement of competition with other family members or compromises by them).

Global Lighting Centre Ltd.

2015 ◽  
pp. 212-232 ◽  
Author(s):  
Lydia Andoh-Quainoo
Keyword(s):  
Family Business ◽  
Family Members ◽  
The Other ◽  
Business Success ◽  
Environmental Challenges ◽  
Depth Interview ◽  
The World ◽  
African Context ◽  
Starting A Business

The purpose of this case study is to examine the motivation and challenges influencing entrepreneurial startup of family businesses from Africa, specifically Ghana. The case brings out how the founder of a family business has been able to manage these challenges and incorporate non-family members for business success. The case further explores the differences and similarities in the motivational factors and challenges associated with starting a business in an African context, specifically Ghanaian context, as compared to the other parts of the world. A questionnaire and in-depth interview was used to gather data. The findings suggest that though there are several personal and environmental challenges faced when starting a family business in Ghana, entrepreneurs with strong mental and personality qualities or characteristics are able to make it.

Family Centeredness as Resource and Complication in Outpatient Care with Weak Adherence, Using Adolescent Diabetes Care as a Case in Point

2019 ◽  
pp. 137-146 ◽  
Author(s):  
Anders Herlitz ◽  
Christian Munthe
Keyword(s):  
Family Member ◽  
Care Provider ◽  
Diabetes Care ◽  
Outpatient Care ◽  
Family Members ◽  
Self Care ◽  
Family Centeredness

This case study illustrates how family members can assist in the care of teenagers with diabetes but that there are also serious risks actualized by such involvement. In particular, it highlights ethical complications that arise when the role of a family member is changed from ‘parent’ to ‘care provider’. The ‘counseling, self-care, adherence’ (CSA) approach offers a look at the role that family can play to improve these types of care.

scholarly journals Umbilical true knot: a case study

2018 ◽  
Vol 7 (7) ◽  
pp. 2956
Author(s):  
Hima Bindu Kommuri ◽  
Valsa Diana G.
Keyword(s):  
Risk Factors ◽  
Umbilical Cord ◽  
Rare Condition ◽  
Fetal Outcome ◽  
Prenatal Ultrasonography ◽  
Male Fetus ◽  
Fetal Demise ◽  
Intrauterine Fetal Demise ◽  
Fetal Movements

Umbilical cord true knot is a rare condition which affects about 1% of all pregnancies. The incidence is not only very low, but it is often undiagnosed antenatally when present despite the availability of prenatal ultrasonography as in this case, where the diagnosis of true knot of umbilical cord was missed even when an ultrasonogram was done 1 week prior to the presentation of patient with decreased fetal movements to opd. Majority of times it does not have any relation with fetal outcome but in certain occasions it is associated with intrauterine fetal demise as in present case presented here. Risk factors include long umbilical cord, polyhydramnios, small fetus, male fetus, etc.

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