The Phenomenon of Bilingualism in Slovakia

The present chapter deals with the phenomenon of bilingualism in Slovakia in general and the concept of so-called intentional bilingualism in particular. This approach has been gaining popularity and has been implemented in monolingual countries of Europe, with the Slovak Republic being no exception. Several studies on successful implementation of intentional bilingualism in monolingual settings in Slovakia have been published in the literature. First, the theoretical background is presented and the relevant literature is reviewed. Intentional bilingualism is defined, the forms of bilingualism in Slovakia are depicted, possible benefits of bilingualism and some prejudices against it, as well as methods of bilingual upbringing in families, are described. The subsequent research part presents a narrative family case study on intentional bilingualism. The bilingual upbringing of a child in a monolingual culture is described and conclusions are outlined.

Control of Elderly Hypertension with Merona Program

Hypertension is a silent killer is the most common health problem experienced by the elderly. Control of hypertension in the elderly is very necessary to reduce complications of hypertension. Based on these conditions, the MERONA Program was developed. The purpose is to provide an overview of the implementation of the blush program in the elderly with hypertension. The method used is a family case study and an aggregate using a family and community nursing process approach involving 10 foster families and 60 elderly people in the community selected using cluster random sampling. This program is an integration of hypertension self-management and relaxation therapy, namely music therapy, progressive muscle relaxation, and deep breathing relaxation which is carried out for 12 weeks. Evaluation of changes in behavior and family independence was carried out at the end of the 12th week using a questionnaire. Blood pressure measurements were carried out at weeks 4, 8, and 12. The results of the implementation were an increase in the behavior of the elderly, an increase in the level of family independence, and a significant decrease in systolic and diastolic blood pressure (p<0.05). The MERONA program is recommended to be applied in community health services.

The Clinical Value of Couple and Family Case Conceptualizations

Clinicians who work primarily with individual clients and have developed competency with case conceptualizations can provide effective treatment. However, when they work with clients for whom couple and family dynamics are prominent, having an individual case conceptualization can be useful but limited. This chapter discusses the value of adding couple and family case conceptualizations. It describes how to incorporate couple interaction patterns and family interaction patterns in the case conceptualization process. A case example that captured and held national attention for more than 1 year is presented. It illustrates the pattern-focused approach for incorporating individual, couple, and family patterns into a composite case conceptualization.

An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation

Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia, and dental abnormalities. Mutations involving Runt-related transcription factor 2 (RUNX2) are currently the only known molecular etiology for CCD but are not identified in all CCD patients. No RUNX2 abnormality can be detected in about 20–30% of patients, and the molecular cause remains unknown. The present study includes a family case with typical features of CCD. RUNX2 mutation was first screened by sequencing analysis, and no mutation was detected. Copy number alterations of the RUNX2 gene were then measured by quantitative PCR and multiplex ligation-dependent probe amplification (MLPA). No copy number variation in RUNX2 could be detected. We performed whole-exome sequencing (WES) to identify the underlying genetic mutations. Unexpectedly, no abnormalities could be detected in genes related to the RUNX2 signaling pathway. Therefore, it was supposed that other new unknown gene variations might contribute to the CCD phenotype. We focused on Immunoglobulin superfamily member 10 (IGSF10), a gene related to bone development. An IGSF10 frameshift mutation (c.6001_6002delCT, p.Leu2001Valfs*24) was detected by WES. Sanger sequencing verified that this mutation was only detected in the patient and her affected mother but not in her unaffected father. Bioinformatics studies demonstrated that this mutation could change the 3D structure of the IGSF10 protein and severely damage its function. In addition, alkaline phosphatase (ALP) activity and the ability to form mineralized nodules were inhibited by IGSF10 knockdown compared with normal controls. The expression of bone sialoprotein (BSP) was significantly reduced by IGSF10 knockdown, but not that of other osteogenic markers. Our results provide new genetic evidence that IGSF10 mutation might contribute to CCD.

SAVI SYNDROME: LITERATURE REVIEW AND FAMILY CASE IN RHEUMATOLOGY AND PULMONOLOGY

SAVI syndrome – STING-associated early-onset vasculopathy – a rare monogenic autosomal dominant autoinflammatory disease associated with a mutation in the TMEM173 gene, belongs to type 1 interferonopathies. It is characterized by early onset, fever, skin rashes (vasculopathy), arthritis, interstitial lung disease (ILD), increased levels of acute phase markers, and the presence of autoantibodies (antinuclear factor, rheumatoid factor and other antibodies). The main treatment is glucocorticoids, JAK inhibitors. This publication provides an overview of the literature on this rare disease, as well as a few family observations. We present our own clinical cases: 2 children from twins and a father from the same family suffering from SAVI syndrome, the therapy of these patients, a complex diagnostic path, including genetic diagnostics, starting with a pulmonologist, a geneticist and ending with a rheumatologist. When analyzing the presented family case, it is obvious that patients with SAVI syndrome can encounter in the practice of a rheumatologist and a pulmonologist. Children with early onset with systemic manifestations (fever, skin rashes, lymphadenopathy, hepatolienal syndrome), arthritis in combination with ILD, increased ESR, C-reactive protein, and the presence of autoantibodies require special attention. It is extremely important to collect a family history to identify similar cases in relatives and to perform genetic testing in a timely manner.

Clinical and Biological Characteristics of Congenital Hypothyroidism: A Family Case Study

Hypothyroidism is the condition of thyroid hormone deficiency. It can be primary or acquired. Primary hypothyroidism can be congenital or late onset. The symptoms of congenital hypothyroidism may go unnoticed in newborns if undiagnosed. Untreated, hypothyroidism can lead to poor mental and intellectual development in children. Hypothyroidism’s clinical manifestations are often subtle or not present at birth. Common symptoms include decreased activity and increased sleep, feeding difficulty, and constipation. On examination, common signs include myxoedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Levothyroxine is the treatment of choice. In general, the prognosis is excellent when this condition is detected by screening and started on treatment early.

“Your Eyes Open and so do Your Ears”: Centering Knowledge of Families with Refugee Backgrounds during a Follow-up Interview

In an exploratory case study of partnerships between educators and refugee families recently resettled in the U.S, we conducted follow-up interviews with each of the ten participating families during year one. In this paper, we report on themes from these interviews highlighted in three family case studies. We used methodological approaches that enabled us to reenvision and interrogate the power structure inherent in research relationships between ‘researcher’ and ‘researched.” The purposes of the additional interview were to conduct a member check on the data we had gathered, understand what had changed since our initial interview with the family, and gather families’ feedback about our comportment and methods. The two-part question was, How might decolonizing methods from a postcolonial lens serve as guideposts for disrupting research methods with families with refugee backgrounds?, and How did partnering with transnational student researchers inform ways of representing the family narratives? The follow-up narratives suggest a complex understanding of building knowledge within the limitations of a conventional research paradigm.