Entisten päihteiden käyttäjien kokemuksia sosiaali- ja terveyspalveluista

Opinnäytetyön tavoitteena oli selvittää, millaisia kokemuksia entisillä päihteiden käyttäjillä on sosiaali- ja terveyspalveluista. Opinnäytetyö toteutettiin parityönä. Opinnäytetyö oli luonteeltaan laadullinen. Tutkimusaineisto saatiin kolmesta teemahaastattelusta. Tutkimusaineiston analyysi koostuu litteroiduista teemahaastatteluista ja niiden sisällön teemoittelusta palvelukokemuksiin liittyen. Opinnäytetyön tuloksista ilmenee, että palveluiden merkitys on ollut haastateltaville erittäin merkittävä. Heidän näkemyksistään tulee esille palveluiden tarjonnan ja tarpeen ristiriitaisuus. Oikeanlaisen palvelun saaminen voi olla hyvinkin haastavaa. Palvelun saajan oma suhtautuminen palveluita ja työntekijöitä kohtaan vaikutti myös palvelun laatuun. Toisaalta myös työntekijän suhtautuminen asiakasta kohtaan vaikuttaa kokemukseen saadusta palvelusta. Opinnäytetyön jatkotutkimusideana olisi tutkimus liittyen ongelmiin asiakkaan ja työntekijän välisissä vuorovaikutustilanteisissa. Hyvänä tutkimuskohteena näemme työntekijöiden ennakkoluulot päihteiden käyttäjiä kohtaan sekä miten päihteiden käyttäjä kokee vuorovaikutustilanteet. Palveluiden tarve ja tarjonta eivät aina kohtaa. Siksi olisi myös mielenkiintoista selvittää, kuinka oikeanlaisen palvelun löytymistä voitaisiin jouduttaa.The goal of our thesis was to produce information on user experiences regarding social and health care services. The thesis was executed as a pair project. Our thesis is a qualitative study, and the data was collected from three theme interviews. The data analysis consists of transcribed theme interviews and theming the content regarding the service experiences. In the results of the thesis, it turned out that the significance of the services has been notable to the interviewees. The conflict between the supply and demand of the services emerged from their experiences. It can be very challenging to receive appropriate service. The service users’ own attitude towards the service and the employee affected on the quality of the service. On the other hand, the employees’ attitude towards the service user affects the experience of the service as well. As an idea for further study, it would be interesting to investigate the problems facing the interaction between a client and an employee. As a good focus for a study would be the employees’ prejudice towards the substance abusers and how do the substance abusers experience the interactions. The need of the service and the resources do not always meet. Therefore, it would also be interesting to research how it would be possible to expedite the process of finding the proper service

Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders

Objectives Clinical diagnostics in adults with hereditary neurological diseases is complicated by clinical and genetic heterogeneity, as well as lifestyle effects. Here, we evaluate the effectiveness of exome sequencing and clinical costs in our difficult-to-diagnose adult patient cohort. Additionally, we expand the phenotypic and genetic spectrum of hereditary neurological disorders in Finland. Methods We performed clinical exome sequencing (CES) to 100 adult patients from Finland with neurological symptoms of suspected genetic cause. The patients were classified as myopathy (n = 57), peripheral neuropathy (n = 16), ataxia (n = 15), spastic paraplegia (n = 4), Parkinsonism (n = 3), and mixed (n = 5). In addition, we gathered the costs of prior diagnostic work-up to retrospectively assess the cost-effectiveness of CES as a first-line diagnostic tool. Results The overall diagnostic yield of CES was 27%. Pathogenic variants were found for 14 patients (in genes ANO5, CHCHD10, CLCN1, DES, DOK7, FKBP14, POLG, PYROXD1, SCN4A, TUBB3, and TTN) and likely pathogenic previously undescribed variants for 13 patients (in genes ABCD1, AFG3L2, ATL1, CACNA1A, COL6A1, DYSF, IRF2BPL, KCNA1, MT-ATP6, SAMD9L, SGCB, and TPM2). Age of onset below 40 years increased the probability of finding a genetic cause. Our cost evaluation of prior diagnostic work-up suggested that early CES would be cost-effective in this patient group, in which diagnostic costs increase linearly with prolonged investigations. Conclusions Based on our results, CES is a cost-effective, powerful first-line diagnostic tool in establishing the molecular diagnosis in adult neurological patients with variable symptoms. Importantly, CES can markedly shorten the diagnostic odysseys of about one third of patients.Peer reviewe

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Peer reviewe

Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders

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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.Methods: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. A yeast complementation assay was used to determine the biochemical consequences of the genetic variants.Results: We identified four patients with biallelic PYROXD1 variants. Three patients, who had symptom onset in their 20s or 30s, were homozygous for the previously described p.Asn155Ser. The fourth patient, with symptom onset at age 49, was compound heterozygous for p.Asn155Ser variant and previously unknown p.Tyr354Cys. All patients presented with a LGMD-type phenotype of symmetric muscle weakness and wasting. Symptoms started in proximal muscles of the lower limbs, and progressed slowly to involve also upper limbs in a proximal-predominant fashion. All patients remained ambulant past the age of 60. They had restrictive lung disease but no cardiac impairment. Muscle MRI showed strong involvement of anterolateral thigh muscles. Muscle biopsy displayed chronic myopathic changes. Yeast complementation assay demonstrated the p.Tyr354Cys mutation to impair PYROXD1 oxidoreductase ability.Conclusion: PYROXD1 variants can cause an adult-onset slowly progressive LGMD-type phenotype.</p

Genetic background of ataxia in children younger than 5 years in Finland

Objective To characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland. Methods This study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a single tertiary center, drawing on the advantages offered by next generation sequencing. A genome-wide genotyping array (Illumina Infinium Global Screening Array MD-24 v.2.0) was used to search for copy number variation undetectable by exome sequencing. Results Exome sequencing led to a molecular diagnosis for 20 probands (40%). In the 23 patients examined with a genome-wide genotyping array, 2 additional diagnoses were made. A considerable proportion of probands with a molecular diagnosis had de novo pathogenic variants (45%). In addition, the study identified a de novo variant in a gene not previously linked to ataxia: MED23. Patients in the cohort had medically actionable findings. Conclusions There is a high heterogeneity of causative mutations in this cohort despite the defined age at onset, phenotypical overlap between patients, the founder effect, and genetic isolation in the Finnish population. The findings reflect the heterogeneous genetic background of ataxia seen worldwide and the substantial contribution of de novo variants underlying childhood ataxia.Peer reviewe