Browsing by Subject "Diagnosis"

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  • Ansaloni, L.; Pisano, M.; Coccolini, F.; Peitzmann, A. B.; Fingerhut, A.; Catena, F.; Agresta, F.; Allegri, A.; Bailey, I.; Balogh, Z. J.; Bendinelli, C.; Biffl, W.; Bonavina, L.; Borzellino, G.; Brunetti, F.; Burlew, C. C.; Camapanelli, G.; Campanile, F. C.; Ceresoli, M.; Chiara, O.; Civil, I.; Coimbra, R.; De Moya, M.; Di Saverio, S.; Fraga, G. P.; Gupta, S.; Kashuk, J.; Kelly, M. D.; Koka, V.; Jeekel, H.; Latifi, R.; Leppaniemi, A.; Maier, R. V.; Marzi, I.; Moore, F.; Piazzalunga, D.; Sakakushev, B.; Sartelli, M.; Scalea, T.; Stahel, P. F.; Taviloglu, K.; Tugnoli, G.; Uraneus, S.; Velmahos, G. C.; Wani, I.; Weber, D. G.; Viale, P.; Sugrue, M.; Ivatury, R.; Kluger, Y.; Gurusamy, K. S.; Moore, E. E. (2016)
    Acute calculus cholecystitis is a very common disease with several area of uncertainty. The World Society of Emergency Surgery developed extensive guidelines in order to cover grey areas. The diagnostic criteria, the antimicrobial therapy, the evaluation of associated common bile duct stones, the identification of "high risk" patients, the surgical timing, the type of surgery, and the alternatives to surgery are discussed. Moreover the algorithm is proposed: as soon as diagnosis is made and after the evaluation of choledocholitiasis risk, laparoscopic cholecystectomy should be offered to all patients exception of those with high risk of morbidity or mortality. These Guidelines must be considered as an adjunctive tool for decision but they are not substitute of the clinical judgement for the individual patient.
  • Hernández, Marcela; Baeza, Mauricio; Räisänen, Ismo T.; Contreras, Johanna; Tervahartiala, Taina; Chaparro, Alejandra; Sorsa, Timo; Hernández-Ríos, Patricia (2021)
    Periodontitis is a host-mediated bacterial disease that affects the tooth attachment apparatus. Metalloproteinase-8 (MMP-8), a validated biomarker, could aid in clinical diagnosis. This study aimed to evaluate the diagnostic performance of active (a) MMP-8 immunotest versus total (t) MMP-8 ELISA for quantitative real-time diagnosis and assessment of periodontitis severity at the site level. Gingival crevicular fluid (GCF) was sampled from 30 healthy, 42 mild, and 59 severe periodontitis sites from thirty-one volunteers. MMP-8 concentrations were determined by time-resolved immunofluorometric assay (IFMA) and enzyme-linked immunosorbent assay (ELISA). Statistical analysis was performed using the STATA package. Both active and total MMP-8-based methods discriminated among sites according to periodontal diagnosis and severity, with a positive correlation between the two tests (p < 0.001). (a) MMP-8 models showed the best performance in receiver operating characteristic (ROC) curves to discriminate between healthy and periodontitis sites (area under the curve [AUC] = 0.89), while (t) MMP-8 demonstrated a high diagnostic precision in the detection of mild from severe periodontitis sites (AUC ≥ 0.80). The use of (a) MMP-8 and (t) MMP-8 could represent a useful adjunctive tool for periodontitis diagnosis and severity. These results support the applicability of new point-of-care methods in the monitoring of high-risk periodontal patients.
  • Kols, Nicola Isabelle; Aatola, Heli; Peltola, Ville; Xu, Man; Nora-Krukle, Zaiga; Hedman, Klaus; Zvirbliene, Aurelija; Toivola, Hanna; Vuorinen, Tytti; Koskinen, Juha M.; Bruning, Andrea H.L.; Christensen, Andreas; Söderlund-Venermo, Maria; Koskinen, Janne O. (2019)
    Background: Diagnosis of human bocavirus 1 (HBoV1) has been based on qualitative PCRs detecting HBoV1 DNA or detection of HBoV1 mRNA. Objective: This study aims to assess whether a rapid and automated HBoV1 antigen test is suitable for diagnosis of acute HBoV1 infection. Study design: HBoV1 antigen detection has been compared with quantitative HBoV1 DNA PCR and HBoV1 mRNA RT-PCR. Results and conclusion: We conclude that HBoV1 antigen detection has higher clinical specificity and positive predictive value than HBoV1 DNA qualitative PCRs, yet a lower sensitivity than HBoV1 mRNA detection. Additionally, HBoV1 antigen detection is beneficial in its rapidity and availability as a point-of-care test.
  • Lammers, Gert Jan; Bassetti, Claudio L.A.; Dolenc-Groselj, Leja; Jennum, Poul J.; Kallweit, Ulf; Khatami, Ramin; Lecendreux, Michel; Manconi, Mauro; Mayer, Geert; Partinen, Markku; Plazzi, Giuseppe; Reading, Paul J.; Santamaria, Joan; Sonka, Karel; Dauvilliers, Yves (2020)
    Summary The aim of this European initiative is to facilitate a structured discussion to improve the next edition of the International Classification of Sleep Disorders (ICSD), particularly the chapter on central disorders of hypersomnolence. The ultimate goal for a sleep disorders classification is to be based on the underlying neurobiological causes of the disorders with clear implication for treatment or, ideally, prevention and or healing. The current ICSD classification, published in 2014, inevitably has important shortcomings, largely reflecting the lack of knowledge about the precise neurobiological mechanisms underlying the majority of sleep disorders we currently delineate. Despite a clear rationale for the present structure, there remain important limitations that make it difficult to apply in routine clinical practice. Moreover, there are indications that the current structure may even prevent us from gaining relevant new knowledge to better understand certain sleep disorders and their neurobiological causes. We suggest the creation of a new consistent, complaint driven, hierarchical classification for central disorders of hypersomnolence; containing levels of certainty, and giving diagnostic tests, particularly the MSLT, a weighting based on its specificity and sensitivity in the diagnostic context. We propose and define three diagnostic categories (with levels of certainty): 1/“Narcolepsy” 2/“Idiopathic hypersomnia”, 3/“Idiopathic excessive sleepiness” (with subtypes)
  • Hathaway, Julie; Heliö, Krista; Saarinen, Inka; Tallila, Jonna; Seppala, Eija H.; Tuupanen, Sari; Turpeinen, Hannu; Kangas-Kontio, Tiia; Schleit, Jennifer; Tommiska, Johanna; Kytola, Ville; Valori, Miko; Muona, Mikko; Sistonen, Johanna; Gentile, Massimiliano; Salmenpera, Pertteli; Myllykangas, Samuel; Paananen, Jussi; Alastalo, Tero-Pekka; Helio, Tiina; Koskenvuo, Juha (2021)
    Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. Methods A retrospective review of patients with a suspected clinical diagnosis of HCM referred for genetic testing at Blueprint Genetics was undertaken. The analysis included syndromic, myopathic and metabolic etiologies. Genetic test results and variant classifications were extracted from the database. Variants classified as pathogenic (P) or likely pathogenic (LP) were considered diagnostic. Results A total of 1376 samples were analyzed. Three hundred and sixty-nine tests were diagnostic (26.8%); 373 P or LP variants were identified. Only one copy number variant was identified. The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the RASopathy genes. Two percent of diagnostic variants were in genes associated with a cardiomyopathy other than HCM or an inherited arrhythmia. Clinical variables that increased the likelihood of identifying a diagnostic variant included: an earlier age at diagnosis (p <0.0001), a higher maximum wall thickness (MWT) (p <0.0001), a positive family history (p <0.0001), the absence of hypertension (p = 0.0002), and the presence of an implantable cardioverter-defibrillator (ICD) (p = 0.0004). Conclusion The diagnostic yield of genetic testing in this heterogeneous cohort of patients with a clinical suspicion of HCM is lower than what has been reported in well-characterized patient cohorts. We report the highest yield of diagnostic variants in the RASopathy genes identified in a laboratory cohort of HCM patients to date. The spectrum of genes implicated in this unselected cohort highlights the importance of pre-and post-test counseling when offering genetic testing to the broad HCM population.
  • Kurppa, Kalle; Rasanen, Tiia; Collin, Pekka; Iltanen, Sari; Huhtala, Heini; Ashorn, Merja; Saavalainen, Paivi; Haimila, Katri; Partanen, Jukka; Maki, Markku; Kaukinen, Katri (2012)
  • Kyrklund, Kristiina; Sloots, Cornelius E. J.; de Blaauw, Ivo; Bjornland, Kristin; Rolle, Udo; Cavalieri, Duccio; Francalanci, Paola; Fusaro, Fabio; Lemli, Annette; Schwarzer, Nicole; Fascetti-Leon, Francesco; Thapar, Nikhil; Johansen, Lars Sondergaard; Berrebi, Dominique; Hugot, Jean-Pierre; Cretolle, Celia; Brooks, Alice S.; Hofstra, Robert M.; Wester, Tomas; Pakarinen, Mikko P. (2020)
    Background Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. Aims This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. Methods Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. Results Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.
  • Kyrklund, Kristiina; Sloots, Cornelius E J; de Blaauw, Ivo; Bjørnland, Kristin; Rolle, Udo; Cavalieri, Duccio; Francalanci, Paola; Fusaro, Fabio; Lemli, Annette; Schwarzer, Nicole; Fascetti-Leon, Francesco; Thapar, Nikhil; Johansen, Lars S; Berrebi, Dominique; Hugot, Jean-Pierre; Crétolle, Célia; Brooks, Alice S; Hofstra, Robert M; Wester, Tomas; Pakarinen, Mikko P (BioMed Central, 2020)
    Abstract Background Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. Aims This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. Methods Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. Results Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.
  • Fokkens, Wytske J.; Lund, Valerie J.; Hopkins, Claire; Hellings, Peter W.; Kern, Robert; Reitsma, Sietze; Toppila-Salmi, Sanna; Bernal-Sprekelsen, Manuel; Mullol, Joaquim; Alobid, Isam; Anselmo-Lima, Wilma Terezinha; Bachert, Claus; Baroody, Fuad; von Buchwald, Christian; Cervin, Anders; Cohen, Noam; Constantinidis, Jannis; De Gabory, Ludovic; Desrosiers, Martin; Diamant, Zuzana; Douglas, Richard G.; Gevaert, Philippe H.; Hafner, Anita; Harvey, Richard J.; Joos, Guy F.; Kalogjera, Livije; Knill, Andrew; Kocks, Janwillem H.; Landis, Basile N.; Limpens, Jacqueline; Lebeer, Sarah; Lourenco, Olga; Matricardi, Paolo M.; Meco, Cem; O'Mahony, Liam; Philpott, Carl M.; Ryan, Dermot; Schlosser, Rodney; Senior, Brent; Smith, Timothy L.; Teeling, Thijs; Tomazic, Peter Valentin; Wang, De Yun; Wang, Dehui; Zhang, Luo; Agius, Adrian M.; Ahlstrom-Emanuelsson, Cecilia; Alabri, Rashid; Albu, Silviu; Alhabash, Saied; Aleksic, Aleksandra; Aloulah, Mohammad; Al-Qudah, Mohannad; Alsaleh, Saad; Baban, Muaid Aziz; Baudoin, Tomislav; Balvers, Tijmen; Battaglia, Paolo; Bedoya, Juan David; Beule, Achim; Bofares, Khaled M.; Braverman, Itzhak; Brozek-Madry, Eliza; Byaruhanga, Richard; Callejas, Claudio; Carrie, Sean; Caulley, Lisa; Chussi, Desderius; de Corso, Eugenio; Coste, Andre; El Hadi, Usama; Elfarouk, Ahmed; Eloy, Philippe H.; Farrokhi, Shokrollah; Felisati, Giovanni; Ferrari, Michel D.; Fishchuk, Roman; Grayson, Jessica W.; Goncalves, Paulo M.; Grdinic, Boris; Grgic, Velimir; Hamizan, Aneeza W.; Heinichen, Julio V.; Husain, Salina; Ping, Tang Ing; Ivaska, Justinas; Jakimovska, Frodita; Jovancevic, Ljiljana; Kakande, Emily; Kamel, Reda; Karpischenko, Sergei; Kariyawasam, Harsha H.; Kawauchi, Hideyuki; Kjeldsen, Anette; Klimek, Ludger; Krzeski, Antoni; Barsova, Gabriela Kopacheva; Kim, Sung Wam; Lal, Devyani; Letort, Jose J.; Lopatin, Andrey; Mahdjoubi, Abdelhak; Mesbahi, Alireza; Netkovski, Jane; Tshipukane, Dieudonne Nyenbue; Obando-Valverde, Andres; Okano, Mitsuhiro; Onerci, Metin; Ong, Yew Kwang; Orlandi, Richard; Otori, Nobuyoshi; Ouennoughy, Kheir; Ozkan, Muge; Peric, Aleksandar; Plzak, Jan; Prokopakis, Emmanuel; Prepageran, Nerayanan; Psaltis, Alkis; Pugin, Benoit; Raftopulos, Marco; Rombaux, Philippe; Riechelmann, Herbert; Sahtout, Semia; Sarafoleanu, Caius-Codrut; Searyoh, Kafui; Rhee, Chae-Seo; Shi, Jianbo; Shkoukani, Mahdi; Shukuryan, Arthur K.; Sicak, Marian; Smyth, David; Snidvongs, Kornkiat; Kosak, Tanja Soklic; Stjarne, Par; Sutikno, Budi; Steinsvag, Sverre; Tantilipikorn, Pongsakorn; Thanaviratananich, Sanguansak; Thuy Tran,; Urbancic, Jure; Valiulis, Arunas; de Aparicio, Carolina Vasquez; Vicheva, Dilyana; Virkkula, Paula M.; Vicente, Gil; Voegels, Richard; Wagenmann, Martin; Wardani, Retno S.; Welge-Lussen, Antje; Witterick, Ian; Wright, Erin; Zabolotniy, Dmytro; Zsolt, Bella; Zwetsloot, Casper P. (2020)
    The European Position Paper on Rhinosinusitis and Nasal Polyps 2020 is the update of similar evidence based position papers published in 2005 and 2007 and 2012. The core objective of the EPOS2020 guideline is to provide revised, up-to-date and clear evidence-based recommendations and integrated care pathways in ARS and CRS. EPOS2020 provides an update on the literature published and studies undertaken in the eight years since the EPOS2012 position paper was published and addresses areas not extensively covered in EPOS2012 such as paediatric CRS and sinus surgery. EPOS2020 also involves new stakeholders, including pharmacists and patients, and addresses new target users who have become more involved in the management and treatment of rhinosinusitis since the publication of the last EPOS document, including pharmacists, nurses, specialised care givers and indeed patients themselves, who employ increasing self-management of their condition using over the counter treatments. The document provides suggestions for future research in this area and offers updated guidance for definitions and outcome measurements in research in different settings. EPOS2020 contains chapters on definitions and classification where we have defined a large number of terms and indicated preferred terms. A new classification of CRS into primary and secondary CRS and further division into localized and diffuse disease, based on anatomic distribution is proposed. There are extensive chapters on epidemiology and predisposing factors, inflammatory mechanisms, (differential) diagnosis of facial pain, allergic rhinitis, genetics, cystic fibrosis, aspirin exacerbated respiratory disease, immunodeficiencies, allergic fungal rhinosinusitis and the relationship between upper and lower airways. The chapters on paediatric acute and chronic rhinosinusitis are totally rewritten. All available evidence for the management of acute rhinosinusitis and chronic rhinosinusitis with or without nasal polyps in adults and children is systematically reviewed and integrated care pathways based on the evidence are proposed. Despite considerable increases in the amount of quality publications in recent years, a large number of practical clinical questions remain. It was agreed that the best way to address these was to conduct a Delphi exercise. The results have been integrated into the respective sections. Last but not least, advice for patients and pharmacists and a new list of research needs are included.
  • Tran, Tien Viet; Dang, Kien Xuan; Pham, Quynh Huong; Nguyen, Ung Dinh; Trinh, Nhung Thi Trang; Hoang, Luong Van; Ho, Son Anh; Nguyen, Ba Van; Nguyen, Duc Trong; Trinh, Dung Tuan; Tran, Dung Ngoc; Orpana, Arto; Stenman, Ulf-Håkan; Stenman, Jakob; Ho, Tho Huu (2020)
    Background The BRAF(V600E) gene encodes for the mutant BRAF(V600E) protein, which triggers downstream oncogenic signaling in thyroid cancer. Since most currently available methods have focused on detecting BRAF(V600E) mutations in tumor DNA, there is limited information about the level of BRAF(V600E) mRNA in primary tumors of thyroid cancer, and the diagnostic relevance of these RNA mutations is not known. Methods Sixty-two patients with thyroid cancer and non-malignant thyroid disease were included in the study. Armed with an ultrasensitive technique for mRNA-based mutation analysis based on a two step RT-qPCR method, we analysed the expression levels of the mutated BRAF(V600E) mRNA in formalin-fixed paraffin-embedded samples of thyroid tissues. Sanger sequencing for detection of BRAF(V600E) DNA was performed in parallel for comparison and normalization of BRAF(V600E) mRNA expression levels. Results The mRNA-based mutation detection assay enables detection of the BRAF(V600E) mRNA transcripts in a 10,000-fold excess of wildtype BRAF counterparts. While BRAF(V600E) mutations could be detected by Sanger sequencing in 13 out of 32 malignant thyroid cancer FFPE tissue samples, the mRNA-based assay detected mutations in additionally 5 cases, improving the detection rate from 40.6 to 56.3%. Furthermore, we observed a surprisingly large, 3-log variability, in the expression level of the BRAF(V600E) mRNA in FFPE samples of thyroid cancer tissue. Conclusions The expression levels of BRAF(V600E) mRNA was characterized in the primary tumors of thyroid cancer using an ultrasensitive mRNA-based mutation assay. Our data inspires further studies on the prognostic and diagnostic relevance of the BRAF(V600E) mRNA levels as a molecular biomarker for the diagnosis and monitoring of various genetic and malignant diseases.
  • Boom, V.; Anton, J.; Lahdenne, P.; Quartier, P.; Ravelli, A.; Wulffraat, N. M.; Vastert, S. J. (2015)
    Background: Macrophage activation syndrome (MAS) is a severe and potentially lethal complication of several inflammatory diseases but seems particularly linked to systemic juvenile idiopathic arthritis (sJIA). Standardized diagnostic and treatment guidelines for MAS in sJIA are currently lacking. The aim of this systematic literature review was to evaluate currently available literature on diagnostic criteria for MAS in sJIA and provide an overview of possible biomarkers for diagnosis, disease activity and treatment response and recent advances in treatment. Methods: A systematic literature search was performed in MEDLINE, EMBASE and Cochrane. 495 papers were identified. Potentially relevant papers were selected by 3 authors after which full text screening was performed. All selected papers were evaluated by at least two independent experts for validity and level of evidence according to EULAR guidelines. Results: 27 papers were included: 7 on diagnosis, 9 on biomarkers and 11 on treatment. Systematic review of the literature confirmed that there are no validated diagnostic criteria for MAS in sJIA. The preliminary Ravelli criteria, with the addition of ferritin, performed well in a large retrospective case-control study. Recently, an international consortium lead by PRINTO proposed a new set of diagnostic criteria able to distinguish MAS from active sJIA and/or infection with superior performance. Other promising diagnostic biomarkers potentially distinguish MAS complicating sJIA from primary and virusassociated hemophagocytic lymphohistiocytosis. The highest level of evidence for treatment comes from case-series. High dose corticosteroids with or without cyclosporine A were frequently reported as first-line therapy. From the newer treatment modalities, promising responses have been reported with anakinra. Conclusion: MAS in sJIA seems to be diagnosed best by the recently proposed PRINTO criteria, although prospective validation is needed. Novel promising biomarkers for sJIA related MAS are in need of prospective validation as well, and are not widely available yet. Currently, treatment of MAS in sJIA relies more on experience than evidence based medicine. Taking into account the severity of MAS and the scarcity of evidence, early expert consultation is recommended as soon as MAS is suspected.
  • Wiegman, Albert; Gidding, Samuel S.; Watts, Gerald F.; Chapman, M. John; Ginsberg, Henry N.; Cuchel, Marina; Ose, Leiv; Averna, Maurizio; Boileau, Catherine; Boren, Jan; Bruckert, Eric; Catapano, Alberico L.; Defesche, Joep C.; Descamps, Olivier S.; Hegele, Robert A.; Hovingh, G. Kees; Humphries, Steve E.; Kovanen, Petri T.; Kuivenhoven, Jan Albert; Masana, Luis; Nordestgaard, Borge G.; Pajukanta, Paevi; Parhofer, Klaus G.; Raal, Frederick J.; Ray, Kausik K.; Santos, Raul D.; Stalenhoef, Anton F. H.; Steinhagen-Thiessen, Elisabeth; Stroes, Erik S.; Taskinen, Marja-Riitta; Tybjaerg-Hansen, Anne; Wiklund, Olov; European Atherosclerosis Soc Conse (2015)
    Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C a parts per thousand yen5 mmol/L (190 mg/dL), or an LDL-C a parts per thousand yen4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is a parts per thousand yen3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if > 10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.
  • Aalto, Kristiina; Lahdenne, Pekka; Kolho, Kaija-Leena (2017)
    Background: Patients with juvenile idiopathic arthritis (JIA) on non-steroidal anti- inflammatory drugs (NSAIDs) may experience abdominal pain. In adults, NSAID use has been linked to an increase in fecal calprotectin (FC) levels, a surrogate marker for gut inflammation. In JIA, data on gut inflammation related to drug use is scarce. Methods: JIA patients followed up at the outpatient pediatric rheumatology clinic in Children's Hospital, Helsinki University Hospital, Helsinki, Finland were routinely assessed for FC if they complained about abdominal pain, had an elevated erythrocyte sedimentation rate (ESR) or used NSAIDs on a daily basis. The FC levels were related to the presence of abdominal pain, to ESR, and to the presence of HLA-B27. Results: Of the total group of 90 patients (median age 9.1 years; 45 JIA patients with disease modifying antirheumatic drugs (DMARDs), 25 without DMARD medication, and 20 arthralgia patients as controls), approximately 50% used NSAIDs, of whom 40% complained about abdominal pain. In patients with abdominal pain, one-third had elevated FC values (>100 mu g/g). The FC values, for the most part, declined along with the discontinuation or reduction of NSAIDs and after intensifying the DMARD medication, where after the pain disappeared. In patients with an elevated ESR, the FC values and ESR normalized in parallel. The presence of HLA-B27 was not associated with FC levels. Conclusion: In patients with JIA and abdominal pain, it may be useful to determine the FC when evaluating the need for further gastrointestinal examinations.
  • Akinrinade, Oyediran; Ollila, Laura; Vattulainen, Sanna; Tallila, Jonna; Gentile, Massimiliano; Salmenpera, Pertteli; Koillinen, Hannele; Kaartinen, Maija; Nieminen, Markku S.; Myllykangas, Samuel; Alastalo, Tero-Pekka; Koskenvuo, Juha W.; Helio, Tiina (2015)
    Aims Genetic analysis among patients with dilated cardiomyopathy (DCM) is becoming an important part of clinical assessment, as it is in hypertrophic cardiomyopathy (HCM). The genetics of DCM is complex and therefore next-generation sequencing strategies are essential when providing genetic diagnostics. To achieve maximum yield, the diagnostic approach should include comprehensive clinical phenotyping combined with high-quality, high-coverage deep sequencing of DCM-associated genes and clinical variant classification as a basis for defining true yield in genetic testing. Our study has combined a novel sequencing strategy and clinical interpretation to analyse the yield and genotype-phenotype correlations among well-phenotyped Finnish DCM patients.Despite our increased understanding of the genetic basis of dilated cardiomyopathy (DCM), the clinical utility and yield of clinically meaningful findings of comprehensive next-generation sequencing (NGS)-based genetic diagnostics in DCM has been poorly described. We utilized a high-quality oligonucleotide-selective sequencing (OS-Seq)-based targeted sequencing panel to investigate the genetic landscape of DCM in Finnish population and to evaluate the utility of OS-Seq technology as a novel comprehensive diagnostic tool. Methods and results Using OS-Seq, we targeted and sequenced the coding regions and splice junctions of 101 genes associated with cardiomyopathies in 145 unrelated Finnish patients with DCM. We developed effective bioinformatic variant filtering strategy and implemented strict variant classification scheme to reveal diagnostic yield and genotype-phenotype correlations. Implemented OS-Seq technology provided high coverage of the target region (median coverage 410x and 99.42% of the nucleotides were sequenced at least 15x read depth). Diagnostic yield was 35.2% (familial 47.6% and sporadic 25.6%, P = 0.004) when both pathogenic and likely pathogenic variants are considered as disease causing. Of these, 20 (53%) were titin (TTN) truncations (non-sense and frameshift) affecting all TTN transcripts. TTN truncations accounted for 20.6% and 14.6% of the familial and sporadic DCM cases, respectively. Conclusion Panel-based, high-quality NGS enables high diagnostic yield especially in the familial form of DCM, and bioinformatic variant filtering is a reliable step in the process of interpretation of genomic data in a clinical setting.
  • Weiste, Elina; Peräkylä, Anssi; Valkeapää, Taina; Savander, Enikö; Hintikka, Jukka (2018)
    Diagnosis is integral part of the way medicine organises illness: it is important for identifying treatment options, predicting outcomes and providing an explanatory framework for clinicians. Previous research has shown that during a medical visit not only the clinician but also patients provide explanations for the causes of their symptoms and health problems. Patients' lifeworld explanations are often differentiated from the diagnostic explanations provided by clinicians. However, while previous conversation analytic research has elaborated the ways in which diagnostic and lifeworld explanations are interactionally structured in somatic medicine, there is little research on how these explanations are organised in psychiatry. Psychiatric diagnosis is particularly interesting because in mental disorders illness itself is not determined by any objective measurement. Understanding of the patient's problem is constructed in interaction between the patient and clinician. The focus of this research will be patients' references to diagnosis in psychiatry and the functions of these references. The findings are based on conversation analysis of 29 audio-recorded diagnostic interviews in a psychiatric outpatient clinic. Our results demonstrate that patients can utilise diagnostic categories in several ways: disavowing a category to distance their symptoms from it, accounting for their life experiences being rooted in psychiatric illnesses and explaining their illnesses as being caused by certain life experiences. We argue that these explanations are important in patients' face-work - in constructing and maintaining a coherent and meaningful view of the patient's self.
  • Vesala, Tommi; Ekholm, Marja; Ventä, Irja (2021)
    Objective:The purpose of this study was to determine, if a dental panoramic tomograph (DPT) is appropriate for every young adult due to third molars. Materials and methods:The study sample consisted of 217 university students (20% men and 80% women; mean age 20.7 years; SD +/- 0.6 years) and included a questionnaire about symptoms caused by third molars, clinical oral examination of third molars, and a DPT. Subjects were divided into the following groups: subjects with a clinical indication for a DPT and subjects without such indication. The DPTs were then examined for findings regarding third molars. Results:Clinical indication for a DPT was observed in 64% of the subjects. Radiography revealed an additional 1.4% of the subjects with >= 1 radiographic signs of disease in relation to their third molars. Also, an additional 27% of the subjects had >= 1 other radiographic findings in relation to third molars that may have affected the clinical decision making. Conclusions:In our study population, clinically undetectable pathology cannot be considered as an indication for a DPT. However, if prevailing clinical practice supports preventive removals and detecting or monitoring of unerupted third molars, a referral to DPT can be considered as good clinical practice.
  • Hietamäki, Johanna (Helsingfors universitet, 2016)
    HYKS:n Sydän- ja keuhkokeskuksessa toteutettiin kehittämishanke keuhkosyövän tutkimusten ja hoitoon pääsyn keston selvittämiseksi ja kehittämistarpeiden arvioimiseksi. Tämän tutkielman tarkoitus oli osana kehittämishanketta selvittää HYKS:ssä keuhkosyöpäpotilaan tutkimus- ja hoitoprosessin eri vaiheiden kestoa lähetteen saapumisesta hoitoon. Tutkimusaineistona oli 179 potilasta, joilla tutkimukset keuhkosyöpäepäilyn vuoksi käynnistyivät syys-marraskuussa 2014 tai tammi-maaliskuussa 2015. Potilasasiakirjoista kerättiin tiedot jokaisen potilaan tutkimus- ja hoitoprosessin osavaiheiden kestosta ja prosessin aikana tehtyjen tutkimus- ja hoitotapahtumien lukumääristä. Keuhkosyövän tutkimus- ja hoitoprosessin mediaanikesto (vaihteluväli) lähetteen hyväksymisestä hoidon alkamiseen oli 61 (8-307) vrk. Vain viidesosalla (22 %) potilaista hoitopäätös tehtiin neljän viikon sisällä lähetteen hyväksymisestä. Leikkaushoitoon päätyneillä potilailla aika lähetteen hyväksymisestä hoitopäätökseen ja hoidon alkamiseen oli pidempi (mediaanit lähete-hoitopäätös 70 vrk ja hoitopäätös-hoito 32,5 vrk) kuin muihin hoitoihin (sädehoito 45,5; 15 ja lääkehoito 35; 7 vrk) ohjautuneilla potilailla. Hoitoprosessin kesto vaihteli eri potilaiden välillä. Mitä useampia eri tutkimuksia tarvittiin, sitä pidempi oli prosessin kokonaiskesto. Tämän tutkimuksen havainnot käynnistivät keuhkosyövän tutkimus- ja hoitoprosessin kehittämistoimenpiteet HYKS:ssä.
  • Sarjamo, Satu (Helsingin yliopisto, 2017)
    Sylkirauhaskasvaimet muodostavat esiintyvyydeltään harvinaisen mutta histologiselta kuvaltaan monimuotoisen kasvainryhmän. Ne voivat saada alkunsa kolmesta eri solutyypistä, ja näin ollen niiden kirjo on varsin laaja. Maailman terveysjärjestön (WHO:n) vuonna 2017 julkaisema epiteliaalisten sylkirauhaskasvainten jaottelu koostuu 20 pahanlaatuisesta ja 11 hyvänlaatuisesta kasvaintyypistä. Sylkirauhaskasvainten diagnostiikka on erittäin haastavaa, ja siihen tarvitaan normaalien hematoksyliini-eosiini -leikkeiden (HE-leikkeet) lisäksi lähes aina niin kutsuttuja immunohistokemiallisia värjäyksiä. Alan kirjallisuudessa kullekin sylkirauhaskasvaintyypille on määritetty tyyppi-immunoprofiili, joka voi kuitenkin vaihdella tapauskohtaisesti. Tämän tutkielman tarkoituksena oli luoda kuva-arkisto, johon on taltioituna kuvia sylkirauhaskasvaintapausten immunohistokemiallisista värjäyksistä. Arkisto tehtiin Helsingin yliopistollisen keskussairaalan patologian laitoksen käyttöön diagnostiseksi apuvälineeksi. Kuvista voidaan nähdä, mitä immunomerkkiaineita eri sylkirauhaskasvaintyypit ilmentävät ja millä voimakkuudella. Kuva-arkiston aineistoksi koottiin Helsingin yliopistollisen keskussairaalan patologiseen keskuslaboratorioon normaaliin patologiseen tutkimukseen tulleita sylkirauhaskasvainnäytteitä. Aineistoksi valittiin 12 sylkirauhaskasvaintapausta, jotka edustavat kymmentä eri epiteliaalista sylkirauhaskasvaintyyppiä. Näytteiden HE- leikkeet ja niistä tehdyt immunohistokemialliset värjäykset kuvattiin mikroskooppikameralla eri suurennoksilla. Nämä kuvat koottiin kuva-arkistoksi, johon on pääsy Patologian laitoksen kotisivujen kautta. Syventävän tutkielman osuuteen koottiin suppea otos kuva-arkiston kuvista edustamaan kunkin kuvatun sylkirauhaskasvaintapauksen immunoprofiilia. Lisäksi syventävän tutkielman osuuteen sisältyy kirjallisuuskatsaus kuvatuista sylkirauhaskasvaintyypistä. Kuva-arkiston kuvista voidaan havainnoida kuvattujen sylkirauhaskasvaintapausten histologinen kuva ja immunoprofiili. Vanhoja tapausesimerkkejä voidaan käyttää vertailukohtana diagnosoitaessa uusia sylkirauhaskasvaimia, kunhan otetaan huomioon, että arkistossa on nähtävissä vain yksittäisiä esimerkkejä siitä, miltä kunkin kasvaintyypin immunoprofiili voi näyttää.
  • Kerkkonen, Anna; Merenmies, Jussi; Kortekangas-Savolainen, Outi; Jääskeläinen, Juhani; Kulmala, Petri; Jääskeläinen, Jarmo (2020)
    Lääketieteen perusopetuksen tärkeä tavoite on antaa opiskelijalle hyvät käytännön valmiudet toimia lääkärin tehtävissä. Suurin osa ylimpien vuosikurssien opiskelijoista työskentelee kesäaikana lääkärinä. Pyysimme kesätöissä olleita kahden ylimmän vuosikurssin opiskelijoita arvioimaan työelämävalmiuksiaan ja antamaan ehdotuksia perusopetuksen kehittämiseksi. Onnistumisia oli koettu ammattihenkilöstön välisen yhteistyön, potilas-lääkärivuorovaikutuksen ja potilaan haastattelemisen osa-alueilla. Heikoimmin oli onnistuttu toimenpiteissä, diagnoosin löytämisessä ja potilaan tutkimisessa. Perusopetusta toivottiin tapauslähtöisemmäksi ja enemmän perusterveydenhuollossa tarvittavaa osaamista painottavaksi. Ohjaavaa yksilöllistä palautetta ja toimenpideopetusta haluttiin lisää. Toivelistalla oli myös lausuntojen laatimisen opetusta, lääkehoidon erityiskysymysten huomiointia, moniammatillisen yhteistyön harjoittelua ja lääkäriksi kasvamisen tukemista.