Uniohjausryhmä vauvaperheelle : vanhempien kokemuksia ryhmänohjauksesta ja vertaistuesta uniongelmien hoidossa

Tämän opinnäytetyön tarkoituksena on kuvata vanhempien kokemuksia ryhmänohjauksesta ja vertaistuesta vauvan uniongelmien hoidossa. Työelämän yhteistyökumppanina toimii Helsingin kaupungin lapsiperheiden perhehoitotyö, joka järjestää uniohjausryhmiä huonosti nukkuvien 6-12 kuukauden ikäisten vauvojen vanhemmille. Opinnäytetyön tavoitteena on, että opinnäytetyön työelämän yhteistyökumppani voi hyödyntää vanhempien haastatteluista analysoitua tietoa uniohjaustoimintansa kehittämisessä. Teoreettisessa viitekehyksessä kerrotaan 6-12 kuukauden ikäisen vauvan unesta, tyypillisimmistä vauvojen uniongelmista, sekä millä tavoin uniongelmat kuormittavat perheiden hyvinvointia ja vuorovaikutussuhteita. Lisäksi opinnäytetyössä esitellään tutkimustietoa ryhmänohjauksesta ja vertaistuesta. Opinnäytetyössä tutkittiin vanhempien kokemuksia uniohjausryhmästä saatavasta ryhmänohjauksesta ja vertaistuesta. Opinnäytetyö toteutettiin laadullisella tutkimusmenetelmällä. Aineisto kerättiin haastattelemalla uniohjausryhmiin osallistuneita perheitä. Aineisto analysoitiin sisällönanalyysimenetelmää käyttäen. Haastatellut vanhemmat pitivät ryhmänohjausta uniongelmien hoidossa toimivana. Vanhemmat olivat saaneet ryhmänohjauksesta helpotusta vauvojensa uniongelmiin ja kokivat elämänlaatunsa parantuneen. Vertaistuki muodostui merkittäväksi voimaannuttavaksi tekijäksi uniongelmien hoidossa. Haastatteluissa ilmeni, että ryhmänohjaustilanteissa oli jonkin verran toistoa asioiden käsittelyssä. Opinnäytetyön lopuksi esitellään haastatteluiden tulosten pohjalta tehtyjä kehittämisehdotuksia. Ryhmästä saatava vertaistuki ja ohjaus uniongelmien hoitoon saattaisi vanhempien mielestä olla vieläkin tehokkaampaa, jos perheitä jaettaisiin ryhmässä enemmän vauvojen ikäkuukausien mukaan.The purpose of this Bachelor’s thesis was to describe parents’ experiences of group counseling and peer support when dealing with insomnia in babies. The working life partner of this thesis was Helsinki Social Services and Services for Families, which organizes group counseling for the parents of infants between 6 to 12 months experiencing sleeping problems. The aim of the thesis was that the working life partner could utilize the information derived from the parents’ interviews in developing their group counseling. The theoretical background includes theory about the sleep of infants aged 6 to 12 months, the most typical sleep problems in infants, and how sleeping problems strain families were discussed. Also, additional information on group counseling and peer support was introduced. The thesis also discussed how the parents experienced group counseling and peer support. In the thesis a qualitative research method was used. The families participating in group counseling were interviewed and the material from those interviews was analyzed using content analysis. The parents who participated in the interviews considered group counseling beneficial. The parents told that counseling alleviated their baby’s sleeping problems and some even saw their quality of life improved. Peer support turned out to be the most important factor in treating insomnia. Interviewees said that there was some degree of repetition in group counseling situations. One suggestion for further development was that peer support and counseling regarding to sleeping problems could be more beneficial if the participating families were divided more strictly into groups according to their baby’s age

Detection of microsatellite instability with Idylla MSI assay in colorectal and endometrial cancer

Universal testing of microsatellite instability (MSI) is recommended for colorectal cancer (CRC) and endometrial cancer (EC) to screen for Lynch syndrome and to aid in assessing prognosis and optimal treatment. We compared the performance of Idylla MSI test to immunohistochemistry (IHC) of mismatch repair (MMR) proteins in consecutive series of 100 CRC and 108 EC samples, as well as in retrospective series of 28 CRC and 33 EC specimens with known deficient MMR protein expression. The concordance between the Idylla test and IHC was 100% in all CRC samples (n=128) but lower in EC samples (87.2%; n=141). In the EC samples, sensitivity of Idylla test was 72.7% and specificity 100%. EC MSI/dMMR agreement was 85.4% for MLH1, 87.5% for MSH2, and only 35.3% for MSH6. When we analyzed 14 EC samples that were discrepant, i.e., dMMR using IHC and microsatellite stable using Idylla, with microsatellite markers BAT25 and BAT26, we found four cases to be replication error (RER) positive. All RER positive cases were deficient for MSH6 protein expression. We also re-analyzed EC samples with variable tumor cellularity to determine the limit of detection of the Idylla test and found that a 30% or higher tumor cellularity is required. We conclude that Idylla MSI test offers a sensitive and specific method for CRC diagnostics but is less sensitive in EC samples especially in the case of MSH6 deficiency.Peer reviewe

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment : a report from the prospective Lynch syndrome database

Background The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time.Methods The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender.Findings Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers.Interpretation In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding We acknowledge funding from the Norwegian Cancer Society, contract 194751-2017. Copyright (c) 2023 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY licensePeer reviewe

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: A report from the Prospective Lynch Syndrome Database

Background The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome