scholarly journals GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1354
Author(s):  
Raymond A. Clarke ◽  
Zhiming Fang ◽  
Dedee Murrell ◽  
Tabrez Sheriff ◽  
Valsamma Eapen

Multiple synostoses syndrome type 4 (SYNS4; MIM 617898) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated hearing loss. SYSN4 has been associated with GDF6 gain-of-function mutations. Here we report a five-generation SYNS4 family with a reduction in GDF6 expression resulting from a chromosomal breakpoint 3′ of GDF6. A 30-year medical history of the family indicated bilateral carpal-tarsal coalition in ~50% of affected family members and acquired otosclerosis-associated hearing loss in females only, whereas vertebral fusion was present in all affected family members, most of whom were speech impaired. All vertebral fusions were acquired postnatally in progressive fashion from a very early age. Thinning across the 2nd cervical vertebral interspace (C2-3) in the proband during infancy progressed to block fusion across C2-7 and T3-7 later in life. Carpal-tarsal coalition and pisiform expansion were bilaterally symmetrical within, but varied greatly between, affected family members. This is the first report of SYNS4 in a family with reduced GDF6 expression indicating a prenatal role for GDF6 in regulating development of the joints of the carpals and tarsals, the pisiform, ears, larynx, mouth and face and an overlapping postnatal role in suppression of aberrant ossification and synostosis of the joints of the inner ear (otosclerosis), larynx and vertebrae. RNAseq gene expression analysis indicated >10 fold knockdown of NOMO3, RBMXL1 and NEIL2 in both primary fibroblast cultures and fresh white blood cells. Together these results provide greater insight into the role of GDF6 in skeletal joint development.

2020 ◽  
pp. 1-7
Author(s):  
Tara Sims

BACKGROUND: The impact of paediatric upper limb difference may extend beyond the child themselves to their parents and other family members. Previous research has found that feelings of shock, numbness and loss are common amongst parents and that peer support can be a buffer against stress. OBJECTIVE: The current study aimed to explore the experiences of parents of children with limb difference, and the role of services and prosthetic devices in these experiences. METHODS: Nine parents of children with limb difference participated in either a group (n= 2) or individual (n= 7) interview. RESULTS: Analysis of the interview transcripts revealed four themes – ‘grief and guilt’, ‘prosthesis as a tool for parental adjustment’, ‘support’ and ‘fun and humour’. CONCLUSIONS: Parents may employ coping strategies to help them adjust to their child’s limb difference, including use of a prosthesis, accessing support from statutory services and peers, and use of fun and humour within the family.


2020 ◽  
Author(s):  
А.Б. Бритаева

В представленной статье на материале произведений Музафера Дзасохова известного современного осетинского писателя, поэта, публициста, переводчика, рассматриваются художественные особенности лирической прозы, а именно, автобиографической повести в осетинской детской литературе. Повесть Весенние звезды (1973) и ее продолжение На берегу Уршдона Барагун (1981) стали началом эпопеи о жизни отдельно взятой семьи, а на их примере всей страны в тяжелые послевоенные годы. В качестве одной из важнейших констант художественного мира писателя рассматривается образ детства. В ходе анализа особое внимание уделяется преобладанию нравственного аспекта, актуализации проблемы регулятивно-воспитательной функции национального этикета, ценностно-нормативных ориентиров осетинской ментальности. С опорой на биографический и историко-генетический методы, основное внимание в исследовании акцентируется на темах послевоенного детства, роли семьи и общества в формировании нравственных ориентиров, в становлении личности, образе матери, теме памяти, а также на художественном осмыслении этих проблем и тем в автобиографических повестях писателя. Типологически воплощение детской темы в творчестве М. Дзасохова во многом опирается на традицию изображения детства в русской автобиографической прозе XX в. В заключительной части сформулированы выводы, отражающие особенности лирической прозы в творчестве М. Дзасохова, обозначено место автобиографических повестей автора в контексте осетинской детской литературы второй половины XX века.Актуальность и научная новизна работы обусловлены недостаточной исследованностью истории и проблем осетинской детской литературы. Результаты исследования могут быть использованы при написании истории осетинской детской литературы. The present article examines the artistic features of lyrical prose, namely, autobiographical story in the Ossetian childrens literature in the works of Muzafer Dzasokhov, a well-known modern Ossetian writer, poet, publicist, translator. The story Spring Stars (1973) and its continuation - On the Bank of Ursdon Baragun ... (1981) marked the beginning of an epic about the life of a family, and via their fates the author shows life of the whole country in the difficult post-war years. The theme of childhood is considered as one of the most important constants of the writers artistic world. In the course of the analysis, special attention is paid to the predominance of the moral aspect, the actualization of the problem of the regulatory and educational function of national etiquette, the value and normative guidelines of the Ossetian mentality. The focus of the study is based on biographical and historical-genetic methods and highlights the themes of post-war childhood, the role of the family and society in the formation of moral guidelines, in the formation of personality, the image of the mother, the theme of memory, as well as on the artistic understanding of these problems and topics in autobiographical novels of the writer. Typologically, the embodiment of the childrens theme in the works of M. Dzasokhov is largely based on the tradition of depicting childhood in Russian autobiographical prose of the XXth century. The formulated conclusions in the final part reflect the peculiarities of lyrical prose in the works of M. Dzasokhov, the place of the authors autobiographical stories is indicated in the context of Ossetian childrens literature of the second half of the XXth century. The relevance and scientific novelty of the work are due to insufficient research on the history and problems of Ossetian childrens literature. The results of the study can be used in writing the history of Ossetian childrens literature.


Author(s):  
Е.В. Косинцева

В истории хантыйской литературы к жанру послания обратился только Матвей Иванович Новьюхов. В данной статье анализу подвергаются послания, вошедшие в книгу М.И. Новьюхова «С надеждой на счастье» (2012). Хантыйским поэтом представлены дружеские, любовные послания и послания-письма родным. Диалогическая природа жанра сильнее всего проявилась в дружеских и любовных посланиях хантыйского стихотворца. Диалог с мансийским поэтом Юваном Шесталовым позволил автору размышлять о месте и роли поэта в обществе. М.И. Новьюхов подчеркивает высокое предназначение поэта в жизни общества, не случайно в одном из посланий к основоположнику мансийской литературы он ставит рядом два понятия «поэт» и «гражданин». Частная жизнь и биографические реалии ярче представлены в любовных посланиях и посланиях-письмах к родным. Послания к членам семьи (брату, дочери) носят характер личной беседы. Образцы любовного послания содержит трогательные признания, адресованные возлюбленной. In the history of Khanty literature, only Matvey Ivanovich Novlukhov addressed to the genre of the epistle. The article analyzes the epistles included in the book of M. I. Novjukhov "With Hope For Happiness" (2012). The Khanty poet presents the friendly, love epistles and letters to relatives. The dialogic nature of the genre was most strongly manifested in the friendly and love epistles. The dialogue with the Mansi poet Yuvan Shestalov allowed the author to reflect on the place and role of a poet in society. Novjukhov emphasizes the high purpose of a poet in the life of society. It is no coincidence that in one of the epistles to the founder of Mansi literature, he puts the two concepts of "poet" and "citizen" side by side. Private life and biographical realities are more vividly represented in love epistles and letters to relatives. The epistles to family members (brother, daughter) are in the nature of a personal conversation. Samples of love epistles contain heartwarming declarations of love addressed to his beloved.


Author(s):  
Vasileva E.A. ◽  
Kuyarov A.A. ◽  
Kuyarov A.V.

The pathogenesis of atopic dermatitis (AD) is complex, and at present a unified concept of the development of the disease has not been formed. At the heart of pathogenesis, there is a complex interaction of numerous factors, such as genetic predisposition, dysfunction of the autonomic nervous system and the epidermal barrier. Previously, it has been proven that a high microbial contamination of the affected areas helps to maintain inflammation and aggravates skin dysfunction as a result of chronic inflammation, and favorable factors appear for the attachment of a secondary infection. However, little attention has been paid to dysfunctions of the epidermal barrier, the role of violations of the quantitative and qualitative composition of the microbiota in the development of AD, and this issue remains relevant at the present time. The aim of this study was to assess the effect of the carrier of bacteria on the mucous membranes of the upper respiratory tract in family members on the course of atopic dermatitis in a child. A bacteriological examination of the mucous membranes of the nose and throat was carried out in 34 children with AD and members of their families (74 people). When examining the mucous membranes of the nose and throat in family members of children with AD, it was found that the microflora isolated from family members in more than half of the cases has an increased potential for pathogenicity with a high degree of contamination (CFU lg 3), which forms an increased bacteriological load on the child. The tendency of bacterial carriage was revealed, contributing to the formation in the family of a permanent persistence of microflora with a high potential for pathogenicity. Asymptomatic carriage of bacteria forms an additional epidemiological load on the child, affects the severity of AD and is a risk factor in the development of secondary infection of the skin.


2021 ◽  
Vol 13 (2021/1) ◽  
Author(s):  
Krisztina Teleki

The 20th century brought different periods in the history of Mongolia including theocracy, socialism and democracy. This article describes what renouncing the world (especially the home and the family), taking ordination, and taking monastic vows meant at the turn of the 20th century and a century later. Extracts from interviews reveal the life of pre-novices, illustrating their family backgrounds, connections with family members after ordination, and support from and towards the family. The master-disciple relationship which was of great significance in Vajrayāna tradition, is also described. As few written sources are available to study monks’ family ties, the research was based on interviews recorded with old monks who lived in monasteries in their childhood (prior to 1937), monks who were ordained in 1990, and pre-novices of the current Tantric monastic school of Gandantegčenlin Monastery. The interviews revealed similarities and differences in monastic life in given periods due to historical reasons. Though Buddhism could not attain its previous, absolutely dominant role in Mongolia after the democratic changes, nowadays tradition and innovation exist in parallel.


Jurnal NERS ◽  
2020 ◽  
Vol 14 (3) ◽  
pp. 362
Author(s):  
Beti Kristinawati ◽  
Annisa Muryadewi ◽  
Ana Dwi Irianti

Introduction: Families have an important role in the successful treatment of people with pulmonary tuberculosis. The purpose of this study was to obtain an overview of the role of the family as a caregiver in caring for family members suffering from pulmonary tuberculosis.Methods: The phenomenological qualitative design was chosen to obtain in-depth information by interviewing thirteen family members who cared for pulmonary tuberculosis patients determined through a purposive technique. Results: The content of Collaizi's analysis produced five themes, namely: 1) Nonpharmacological therapy is given by the family to treat symptomatic pulmonary tuberculosis 2) Efforts to cut transmission was carried out by the family to prevent transmission of disease, 3) Nutrition support provided by families in treating patients, 4) Instrumental support given by families in caring for pulmonary tuberculosis patients, 5) Emotional support given by families in treating pulmonary tuberculosis sufferers.Conclusion: The family provides physical and psychological care to support the successful treatment of pulmonary tuberculosis. A program is recommended to increase family knowledge in caring for family members suffering from pulmonary tuberculosis. Words are sorted alphabetically.


2019 ◽  
Vol 23 (4) ◽  
Author(s):  
Rita de Cássia Melão de Morais ◽  
Tania Vignuda de Souza ◽  
Isabel Cristina dos Santos Oliveira ◽  
Juliana Rezende Montenegro Medeiros de Moraes ◽  
Elena Araújo Martinez ◽  
...  

ABSTRACT Objective: To analyze the role of the social network configured by the family/companion and their implications for their stay during the hospitalization of the child in the pediatric hospitalization unit. Method: Qualitative study with ten family members/companions of hospitalized children. Data collection was done through the technique of individual interview, which occurred in the period from February to December 2015. The analysis was thematic, in light of the theoretical reference of "Social Networks" described by Lia Sanicola. Results and discussion: The main role of the social network was emotional and material support, and the main components of this network were: companion, mother, aunt and daughter, as well as nursing team, physician and other family members/companions. Final considerations and implications for the practice: It was verified that the totality of the interviewees was female, however, the husband was the most important member of the social network for the family members involved, since they perform the material/financial and emotional function. In addition, the participants consider that they are responsible for all care to the family and, in the condition in that they are, they understand it as a favor provided by the other members of the network. Identifying the composition of the social networks of family members/companions provides a better targeting of care in order to strengthen the social support received.


2018 ◽  
Vol 64 (4) ◽  
pp. 367-373 ◽  
Author(s):  
Divya Ballal ◽  
Janardhana Navaneetham

Background: Children of parents with mental illness are not routinely included in psychoeducational and supportive family interventions provided by adult mental health systems. The family, therefore, is an important and, sometimes, the only source of information and support for them. Aim: To understand the experiences of well parents in talking to their children about parental mental illness. Method: This article presents the findings of a qualitative study of the experiences of well parents in talking to their children about parental mental illness. Ten well parents whose spouses were diagnosed with a severe mental illness participated in the study. Socio-demographic information, family details and history of the spouse’s mental illness along with their experiences of talking to children about parental mental illness, the perceived risks and benefits, challenges they faced and the role of others in the process were recorded. Qualitative data were analysed using interpretative phenomenological analysis. Findings: The themes of ‘distancing children from parental mental illness’, ‘avoiding conversations about the illness’, ‘giving and receiving emotional support’, ‘providing explanations of the illness’ and ‘regulating other sources of information’ show the complex ways in which well parents influence their children’s understanding of parental mental illness. The findings are examined in the background of what is known about this topic from the perspective of children or of the parent with illness. Possible ways to support well parents in families affected by parental mental illness are discussed. Conclusion: This study is a step forward in the understanding of how families talk to children about parental mental illness and provides the perspective of the well parent.


2021 ◽  
Author(s):  
Keerthic Aswin ◽  
Srinivasan Ramachandran ◽  
Vivek T Natarajan

AbstractEvolutionary history of coronaviruses holds the key to understand mutational behavior and prepare for possible future outbreaks. By performing comparative genome analysis of nidovirales that contain the family of coronaviruses, we traced the origin of proofreading, surprisingly to the eukaryotic antiviral component ZNFX1. This common recent ancestor contributes two zinc finger (ZnF) motifs that are unique to viral exonuclease, segregating them from DNA proof-readers. Phylogenetic analyses indicate that following acquisition, genomes of coronaviruses retained and further fine-tuned proofreading exonuclease, whereas related families harbor substitution of key residues in ZnF1 motif concomitant to a reduction in their genome sizes. Structural modelling followed by simulation suggests the role of ZnF in RNA binding. Key ZnF residues strongly coevolve with replicase, and the helicase involved in duplex RNA unwinding. Hence, fidelity of replication in coronaviruses is a result of convergent evolution, that enables maintenance of genome stability akin to cellular proofreading systems.


2007 ◽  
Vol 7 (1) ◽  
Author(s):  
Helena Calvo Botella

Es un hecho ampliamente aceptado el hecho de que el abuso de drogas y las conductas adictivas tienen consecuencias negativas en diferentes áreas de la vida familiar. Muchos miembros de la familia pueden mostrar perturbaciones psicológicas, psicosomáticas, afectivas, económicas,… pero paralelamente, es igualmente cierto que las dinámicas familiares pueden infl uir sobre las conductas adictivas y su tratamiento. En este artículo se comentan dicha infl uencia recíproca y el papel de la familia en la integración social del paciente adicto. AbstractIt is widely accepted that drug misuse and addictive behaviours havenegative consequences in different areas of family life. Many family members can show psychological, psychosomatic, affective, economic disturbances…, but it is true as well that family dynamics can infl uence addictive behaviours and their treatment. In this paper this reciprocal infl uence and the role of family in social integration of addicted patients are discussed.


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