Masennuksen koettu kuntoutustarve väestössä : Health and Social Support (HeSSup) -tutkimuksen tuloksia

Tieto kuntoutuksen tarpeesta eri väestö- ja sairausryhmissä on avainasemassa kuntoutuksen kehittämisessä. Masennus on merkittävä työ- ja toimintakyvyn heikkenemistä aiheuttava kansanterveysongelma. Masennukseen sairastuneen työ- ja toimintakyvyn ylläpitämiseksi ja edistämiseksi tarvitaan hoidon lisäksi yleensä myös kuntoutusta. Oikea-aikaisella ja riittävällä hoidolla ja kuntoutuksella ehkäistään masennuksen vaikeutumista ja pyritään vaikuttamaan prosesseihin, jotka lopulta voivat johtaa työ- ja toimintakyvyn merkittävään ja pysyvään alenemiseen. Aiempia laajoja väestöön kohdentuvia tutkimuksia koetusta kuntoutustarpeesta masennuksen takia ei ole tehty. Tässä tutkimuksessa selvitettiin, missä määrin suomalaisessa väestössä koetaan kuntoutuksen tarvetta masennuksen vuoksi ja onko koetussa kuntoutustarpeessa eroja iän, sukupuolen, koulutusasteen, työstatuksen ja masentuneisuuden mukaan. Lisäksi tutkittiin psykoterapian saamisen ja oman alueen terveydenhuollon palveluita koskevan tyytyväisyyden yhteyttä toteutuneeseen ja riittäväksi koettuun kuntoutukseen masennuksen takia. Aineistona käytettiin laajaan satunnaisotokseen perustuvaa Health and Social Support (HeSSup) -seurantatutkimuksen tietoja vuosilta 1998, 2003 ja 2011. Tutkimukseen osallistuneet olivat vuonna 1998 20–54-vuotiaita. Kuntoutustarvetta masennuksen vuoksi oli kokenut 10 % vastaajista. Työstatuksen mukaan tarkasteltuna eniten kuntoutustarvetta masennuksen takia raportoivat työttömänä peruspäivärahalla ja työkyvyttömyyseläkkeellä olevat. Eri mittareilla mitattuna masennukseen sairastuneista huomattava osa oli kokenut tarvitsevansa kuntoutusta masennuksen vuoksi, mutta ei ollut sitä joko saanut tai saatu kuntoutus oli koettu riittämättömäksi. Psykoterapian saaminen ja tyytyväisyys oman asuinalueen terveydenhuollon palveluihin lisäsivät todennäköisyyttä riittäväksi koettuun kuntoutukseen. Tutkimuksemme tulokset osoittavat puutteita kuntoutusjärjestelmän kyvyssä vastata masennuksen vuoksi koettuun kuntoutuksen tarpeeseen väestössä. Psykoterapioiden saatavuutta tulee parantaa ja erityistä huomiota tulee kiinnittää työelämän ulkopuolella olevien työikäisten mahdollisuuksiin saada oikea-aikaista ja riittävää kuntoutusta. Koettu kuntoutustarve ja toteutuneen kuntoutuksen koettu riittävyys väestössä ovat tärkeitä mittareita kuntoutusjärjestelmän toimivuudelle

A differential diagnosis of a head and neck bony lesion : Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis

Peer reviewe

Failure to rescue after reoperation for major complications of elective and emergency colorectal surgery : A population-based multicenter cohort study

Publisher Copyright: © 2022 The Author(s)Background: As complications inevitably occur, minimizing the failure-to-rescue rate is of paramount interest. Most of the failure-to-rescue research in colorectal surgery has previously focused on elective surgery and anastomotic dehiscence. The aim of this study was to characterize and compare the major postoperative complications demanding reoperation after elective versus emergency colorectal surgery, and to the identify risk factors for failure-to-rescue. Methods: In this population-based retrospective multicenter cohort study, adult patients undergoing a reoperation for colorectal surgery complication between 2006 and 2017 in 10 hospitals were included. The data were manually extracted. Failure-to-rescue was defined as 90-day mortality after the reoperation. Results: In total, 14,290 patients underwent index colorectal resection, of which 862 patients (5.8%) underwent emergency reoperation within 30 days (438 [4.3%] after elective, 424 [10.4%] after emergency index operation, P 3× compared with elective surgery. The 4 most common complication types constitute three-fourths of the complications, providing a target for quality improvement.Peer reviewe

Stoma reversal after Hartmann's procedure for acute diverticulitis

Background: Hartmann's procedure is a treatment option for perforated acute diverticulitis, especially when organ dysfunction(s) are present. Its use has been criticized mostly out of fear of high permanent stoma rate. The aim of this study was to investigate the rate of stoma reversal, reasons behind non-reversal, and safety of reversal surgery. Methods: This was a single-center retrospective study of patients undergoing urgent Hartmann's pro-cedure due to acute diverticulitis between the years 2006 and 2017 with follow-up until March 2021. Results: A total of 3,319 episodes of diverticulitis in 2,932 patients were screened. The Hartmann's procedure was performed on 218 patients, of whom 157 (72%) had peritonitis (48 (22%) with organ dysfunction). At 2-years, 76 (34.9%) patients had died with stoma, 42 (19.3%) were alive with stoma, and 100 (45.9%) had undergone stoma reversal. The survival of patients with and without reversal were 100% and 42.7% at 1-year, 96.0% and 35.0% at 2-years and 88.9% and 20.7% at 5-years, respectively. The risk factors for nonreversal were old age, a need for outside assistance, low HElsinki Staging for Acute Diverticulitis stage, and higher C-reactive protein level upon hospital admission. The most common reasons for nonreversal in surviving patients were patient not willing to have the operation 18 (41%) and dementia 10 (23%). Twelve (12%) patients had a major complication after reversal (Clavien-Dindo IIIb-IV) and 90-day mortality after reversal was 0%. Conclusion: After the Hartmann's procedure for acute diverticulitis, one-third died, half underwent stoma reversal, and one-fifth did not undergo stoma reversal within 2 years. Patients who survive with stoma are either not willing to have reversal or have severe comorbidities excluding elective surgery. The Hartmann's procedure remains a viable option for high-risk patients with perforated acute diverticulitis. (c) 2022 The Author(s). Published by Elsevier Inc.Peer reviewe

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign

Background PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin (DSP). PPK should trigger genetic testing to reveal mutations with possible related cardiac disease. Objectives To report a large multigenerational family with a novel DSP mutation associated with early-onset PPK and adult-onset cardiomyopathy and arrhythmias. Methods A custom-designed in-house panel of 35 PPK related genes was used to screen mutations in the index patient with focal PPK. The identified DSP mutation was verified by Sanger sequencing. DNA samples from 20 members of the large multigenerational family were sequenced for the DSP mutation. Medical records were reviewed. Clinical dermatological evaluation was performed, including light microscopy of hair samples. Cardiac evaluation included clinical examination, echocardiography, cardiac magnetic resonance imaging (CMR), electrocardiogram (ECG), Holter monitoring and laboratory tests. Results We identified a novel autosomal dominant truncating DSP c.2493delA p.(Glu831Aspfs*33) mutation associated with dilated cardiomyopathy (DCM) with arrhythmia susceptibility and focal PPK as an early cutaneous sign. The mutation was found in nine affected family members, but not in any unaffected members. Onset of dermatological findings preceded cardiac symptoms which were variable and occurred at adult age. Conclusions We report a novel truncating DSP mutation causing focal PPK with varying severity and left ventricular dilatation and ventricular extrasystoles. This finding emphasizes the importance of genetic diagnosis in patients with PPK for clinical counselling and management of cardiomyopathies and arrhythmias.Peer reviewe

Cardiac Function, Perfusion, Metabolism, and Innervation following Autologous Stem Cell Therapy for Acute ST-Elevation Myocardial Infarction. A FINCELL-INSIGHT Sub-Study with PET and MRI

Purpose: Beneficial mechanisms of bone marrow cell (BMC) therapy for acute ST-segment elevation myocardial infarct (STEMI) are largely unknown in humans. Therefore, we evaluated the feasibility of serial positron emission tomography (PET) and MRI studies to provide insight into the effects of BMCs on the healing process of ischemic myocardial damage. Methods: Nineteen patients with successful primary reteplase thrombolysis (mean 2.4 h after symptoms) for STEMI were randomized for BMC therapy (2.9 × 106 CD34+ cells) or placebo after bone marrow aspiration in a double-blind, multi-center study. Three days post-MI, coronary angioplasty, and paclitaxel eluting stent implantation preceded either BMC or placebo therapy. Cardiac PET and MRI studies were performed 7–12 days after therapies and repeated after 6 months, and images were analyzed at a central core laboratory. Results: In BMC-treated patients, there was a decrease in [11C]-HED defect size (−4.9 ± 4.0 vs. −1.6 ± 2.2%, p = 0.08) and an increase in [18F]-FDG uptake in the infarct area at risk (0.06 ± 0.09 vs. −0.05 ± 0.16, p = 0.07) compared to controls, as well as less left ventricular dilatation (−4.4 ± 13.3 vs. 8.0 ± 16.7 mL/m2, p = 0.12) at 6 months follow-up. However, BMC treatment was inferior to placebo in terms of changes in rest perfusion in the area at risk (−0.09 ± 0.17 vs. 0.10 ± 0.17, p = 0.03) and infarct size (0.4 ± 4.2 vs. −5.1 ± 5.9 g, p = 0.047), and no effect was observed on ejection fraction (p = 0.37). Conclusion: After the acute phase of STEMI, BMC therapy showed only minor trends of long-term benefit in patients with rapid successful thrombolysis. There was a trend of more decrease in innervation defect size and enhanced glucose metabolism in the infarct-related myocardium and also a trend of less ventricular dilatation in the BMC-treated group compared to placebo. However, no consistently better outcome was observed in the BMC-treated group compared to placebo

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia

Despite recent progress in acute lymphoblastic leukemia (ALL) therapies, a significant subset of adult and pediatric ALL patients has a dismal prognosis. Better understanding of leukemogenesis and recognition of germline genetic changes may provide new tools for treating patients. Given that hematopoietic stem cell transplantation, often from a family member, is a major form of treatment in ALL, acknowledging the possibility of hereditary predisposition is of special importance. Reports of comprehensive germline analyses performed in adult ALL patients are scarce. Aiming at fulfilling this gap of knowledge, we investigated variants in 93 genes predisposing to hematologic malignancies and 70 other cancer-predisposing genes from exome data obtained from 61 adult and 87 pediatric ALL patients. Our results show that pathogenic (P) or likely pathogenic (LP) germline variants in genes associated with predisposition to ALL or other cancers are prevalent in ALL patients: 8% of adults and 11% of children. Comparison of P/LP germline variants in patients to population-matched controls (gnomAD Finns) revealed a 2.6-fold enrichment in ALL cases (CI 95% 1.5-4.2, p = 0.00071). Acknowledging inherited factors is crucial, especially when considering hematopoietic stem cell transplantation and planning post-therapy follow-up. Harmful germline variants may also predispose patients to excessive toxicity potentially compromising the outcome. We propose integrating germline genetics into precise ALL patient care and providing families genetic counseling.Peer reviewe

Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients

Allogeneic hematopoietic stem cell transplantation (HSCT) provides patients with severe hematologic disease a well-established potential for curation. Incorporation of germline analyses in the workup of HSCT patients is not a common practice. Recognizing rare harmful germline variants may however affect patients' pre-transplantation care, choice of the stem cell donor, and complication risks. We analyzed a population-based series of germline exome data of 432 patients who had undergone HSCT. Our aim was to identify clinically relevant variants that may challenge the outcome of the HSCT. We focused on genes predisposing to hematological diseases, or solid tumors, and genes included in the American College of Medical Genetics secondary findings list v3.0. As population-specific controls, we used GnomAD non-cancer Finns (n = 10,816). We identified in our population-based analysis rare harmful germline variants in disease-predisposing or actionable toxicity-increasing genes in 17.8% of adult and pediatric patients that have undergone HSCT (15.1% and 22.9%, respectively). More than half of the patients with a family member as a donor had not received genetic diagnosis prior to the HSCT. Our results encourage clinicians to incorporate germline genetic testing in the HSCT protocol in the future in order to reach optimal long-term outcome for the patients.Peer reviewe