Abstract A non-ischemic etiology of sudden cardiac death (SCD), mostly due to various cardiomyopathies (CMP), accounts for about 20% of all SCDs. Most of the major studies of risk factors for SCD have focused on coronary artery disease (CAD). The aim of the present study was to clarify the characteristics of non-ischemic SCD in Northern Finland. In this study, consecutive victims of SCD (n=2661) were prospectively collected, and among whom post-mortem examinations were performed between 1998 and 2007. Information about the SCD victims was obtained from a combination of available medical records, postmortem examination reports, medication used at the time of SCD, and standardized questionnaire filled out by the closest family members of the victims of SCD. We also screened the candidate genes from a Finnish family in which fatal arrhythmias was first manifestation of a cardiac disease. The collagen content of the myocardium from histological samples in victims of SCD due to idiopathic myocardial fibrosis (IMF) was also evaluated. CAD was the most common cause of death (2082 victims, 78.2%). The prevalence of non-ischemic SCDs was 21.8% of all the SCDs. After sub-grouping the non-ischemic SCDs into various categories, the most common cause of death was CMP related to obesity (23.7%), followed by alcoholic CMP (19.0%), hypertensive CMP (15.5%) and IMF (13.6%). The association of SCD with IMF is notably frequent among victims <40 years old (28.3%). The prevalence of family history of SCD was significantly higher in the victims of ischemic (34.2%) than non-ischemic SCD (13.4%, P<0.001) or controls (17.6%, P<0.001). Lamin A/C gene mutation R541C was found from Finnish SCD family, in which the IMF was predominant pathologic-anatomic finding. Myocardial type I collagen synthesis was increased in victims of SCD due to IMF. In conclusion, the characteristics of non-ischemic SCD in Finland differ from those reported previously. Higher prevalences of CMP-associated SCDs related to obesity, IMF and alcoholic CMP were observed as clinical and/or pathologic bases for non-ischemic SCD. The family history of SCD is not significantly increased in victims of non-ischemic SCD, suggesting a larger role of sporadic occurrence than inherited traits as the cause of non-ischemic SCD. Replacement of cardiac myocytes by fibrosis can be responsible for fatal cardiac arrhythmias in subjects with the lamin A/C gene mutation. The victims of SCD due to IMF have increased myocardial type I collagen synthesis. / Tiivistelmä Ei-iskeeminen sydänperäinen äkkikuolema aiheuttaa noin 20 % kaikista sydänperäisistä äkkikuolemista. Suurin osa ei-iskeemisistä sydänperäisistä äkkikuolemista johtuu erilaisista sydänlihassairauksista, kardiomyopatioista. Useimmat sydänperäisen äkkikuoleman riskitekijöitä kartoittavista tutkimuksista ovat keskittyneet sepelvaltimotautiin. Tämän tutkimuksen tarkoituksena oli selvittää ei-iskeemisen sydänperäisen äkkikuoleman tunnuspiirteitä pohjoissuomalaisessa väestössä. Tutkimuksessa käytettiin potilasaineistona sydänperäiseen äkkikuolemaan menehtyneitä vainajia (n=2661), joille on tehty oikeuslääketieteellinen ruumiinavaus. Tiedot vainajista saatiin saatavilla olevista potilaskertomuksista, ruumiinavauspöytäkirjoista, äkkikuoleman aikaisesta lääkityksestä ja lähiomaisille lähetetystä standardisoidusta kyselylomakkeesta. Kandidaattigeenit tutkittiin pohjoissuomalaisesta perheestä, jossa ensimmäinen oire sydänsairaudesta oli hengenvaarallinen rytmihäiriö. Lisäksi sydänlihaksen kollageenikoostumus analysoitiin histologisista näytteistä potilailta, joiden sydänperäinen äkillinen kuolema johtui idiopaattisesta sydänlihaksen sidekudoskasvusta. Sepelvaltimotauti oli yleisin sydänperäisen äkkikuoleman aiheuttaja (n=2082, 78,2 %). Ei-iskeemisten sydänperäisten äkkikuolemien osuus oli 21,8 % (n=579) kaikista sydänperäisistä äkkikuolemista. Ei-iskeemiset sydänperäiset äkkikuolemat jaettiin alaryhmiin, joista yleisimmät olivat lihavuuteen assosioituva kardiomyopatia (23,7 %), alkoholikardiomyopatia (19,0 %), korkeaan verenpaineeseen assosioituva kardiomyopatia (15,5 %) sekä idiopaattinen sydänlihaksen sidekudoskasvu (13,6 %), joka myös oli yleisin ei-iskeemiseen sydänperäiseen äkkikuolemaan johtava syy alle 40-vuotiailla (28,3 %). Positiivinen sydänperäisen äkkikuoleman sukuhistoria oli tilastollisesti merkitsevästi yleisempää iskeemisillä (34,2 %) kuin ei-iskeemisillä (13,4 %) sydänperäisen äkkikuoleman uhreilla. Lamin A/C – geenin mutaatio löydettiin pohjoissuomalaisesta äkkikuolemaperheestä, jossa idiopaattinen sydänlihaksen sidekudoskasvu todettiin pääasialliseksi patologiseksi löydökseksi. Tyypin I kollageenin synteesi todettiin kohonneeksi idiopaattiseen sydänlihaksen sidekudoskasvuun menehtyneillä vainajilla. Yhteenvetona voidaan todeta, pohjoissuomalaisen väestön ei-iskeemisen sydänperäisen äkkikuoleman tunnuspiirteet eroavat aiemmin raportoiduista; lihavuuteen assosioituva kardiomyopatia, alkoholikardiomyopatia, sekä idiopaattinen sydänlihaksen sidekudoskasvu olivat aiempaa yleisempiä ei-iskeemisen äkkikuoleman aiheuttajia. Positiivinen sydänperäisen äkkikuoleman sukuhistoria ei ollut tilastollisesti merkitsevästi kohonnut ei-iskeemisen sydänperäiseen äkkikuolemaan menehtyneillä. Tämä tarkoittaa, että perinnöllinen syy ei-iskeemisen sydänperäisen äkkikuoleman aiheuttajana on luultua harvinaisempi. Lamin A/C – geenimutaation kantajilla sydänlihassolujen korvautuminen sidekudoksella todettiin hengenvaarallisen rytmihäiriön aiheuttajaksi. Lisäksi, tyypin I kollageenin synteesi todettiin kohonneeksi idiopaattiseen sydänlihaksen sidekudoskasvuun menehtyneillä vainajilla.

Les maladies auto-immunes et systémiques sont des maladies sur lequel le champ de la recherche pose son œil de façon appuyée depuis 15 ans, du fait de l’émergence de thérapies biologiques ciblées. Ces pathologies sont volontiers hétérogènes, au mieux de fréquence ou caractéristiques particulières dans les populations d’origine Africaine. La connaissance de l’épidémiologie, et des caractéristiques de ces maladies est un préalable essentiel à la mise en place de recherche plus fondamentale pour aider à décomposer leurs physiopathologies souvent extrêmement complexes. En effet, la comparaison de différences marquées entre deux expressions dans des populations différentes d’une même maladie peut permettre d’aider à en dénouer le fil. Nous proposons dans ce travail une estimation des caractéristiques du lupus cutané et du lupus systémique en Guyane Française qui retrouve une faible fréquence de la maladie, la plus faible jamais retrouvée dans une population subsaharienne. Nous décrivons en Martinique sur le plan épidémiologique comme clinique une forme rare de myosite appelée syndrome des anti-synthétases semblant très particulière, l’épidémiologie et la description de la maladie de Kikuchi-Fujimoto pour la première fois dans la littérature, l’épidémiologie et les caractéristiques à base de population de la maladie de Behcet, des principales vascularites (périartérite noueuse, micropolyangéite, granulomatose éosinophile avec polyangéite, granulomatose avec polyangéite), de l’hypertension pulmonaire des connectivites qui semblent plus fréquentes que chez les Européens. Les néphropathies du lupus systémiques sont décrites dans la population Guadeloupéenne montrant une grande fréquence des néphropathies prolifératives. Le protocole EUROLUPUS qui permet le traitement de ces néphropathies prolifératives du lupus systémique avec de faibles doses de cyclophosphamide et de corticoïdes, est évalué en Martinique sur 30 patients alors qu’il ne l’a jamais été dans une population d’origine Africaine. Il semble y être aussi efficace que chez les patients d’origine Européenne, alors que les néphropathies y ont un pronostic meilleur. La maladie de Sjögren primaire est décrite en Martinique très proche de ce qu’on trouve en Europe sur le plan du tableau clinique et évolutif alors que cela n’est l’objet d’aucune étude dans une population d’origine noire Africaine. Nous avons par ailleurs montré en Martinique l’amélioration de la prise en charge du lupus systémique en Martinique au travers de la régression au fil du temps d’une des complications de la corticothérapie les plus pénibles pour les patients, l’ostéonécrose aseptique. La sclérodermie systémique est décrite à base de population avec épidémiologie dans les deux départements de Guadeloupe et Martinique, montrant des caractéristiques proches de celles retrouvées chez les AfroAméricains. Nous avons aussi montré la fréquence et la gravité des atteintes ORL des myopathies inflammatoires sur ces 2 départements avec une fréquence inhabituelle de certaines maladies auto-immunes dont le lupus systémique et les myosites inflammatoires associées aux anticorps anti-SRP, et l’absence de myosite à inclusion. Au total, nous apportons une somme de connaissance descriptive de ces maladies auto-immunes et systémiques permettant la mise en place de recherches plus fondamentales avec des bases solides par rapport aux profils hétérogènes de ces maladies. / Auto-immunes and systemic diseases are priorities for researchers since 15 years. This is related to the emergence of biological therapies, associated to great efficacy. Although, these diseases are heterogeneous, depending of different parameters such as ethnicity or geography. In the African descent population, we encounter unusual or particular manifestations of these diseases. Also, the knowledge of epidemiology and population based descriptions are crucial to properly initiate works on these populations, but also to understand a particularly complex physiopathology by using differences between populations. We describe in this work the population based characteristics of pure cutaneous lupus and systemic lupus, including an epidemiology of the incidence of the lowest incidence ever found in a population of African heritage. We also describe a population based series of anti-synthetase syndrome, confirming that the presentation is totally different compared to caucasians, and allows in Martinique the incidence, never explored before. We also provide the first evaluation of Kikuchi-Fujimoto disease in a population of African origin, and the first incidence ever realized. We do the same evaluation of the epidemiology of Behcet’s disease in a black origin population that shows that this disease was at a similar frequency in Martinique and in Europe. Micropolyangeitis, polyarteritis, eosinophilic granulomatosis with polyangeitis and Granulomatosis with polyangeitis were evaluated in an epidemiologic study in Martinique, with addition of some cases from other French American region for a more powerful characteristics description. These diseases seem less frequent than in Europe, associated with less severity except for micropolyangeitis. EUROLUPUS, a protocol with low dose IV cyclophosphamide and low dose steroids, used to treat proliferative nephritis of systemic lupus is shown to have the same efficacy in Martinique than in patients of European origin. Primary Sjögren syndrome, evaluated in Martinique, is very similar in expression than what is found in Europe. The decrease overtime of aseptic osteonecrosis, a steroid side effect, is a witness of better control of systemic lupus activity with less usage permitted by protocols and new immunosuppressive drugs such as mycophenolate. Systemic sclerosis is described as very close to African American in a population based study in Martinique and Guadeloupe. We finally show that the rare ENT involvement of idiopathic inflammatory myositis is frequent in our population, associated with poor outcome, and surprisingly frequently related to systemic lupus and necrotizing myositis associated to SRP antibody but not to inclusion body myositis. To conclude, we allow an amount of description of these diseases in our region, including pioneer studies. This works tends to be the basis for studies to be continued in a more fundamental way in our countries.

L’évaluation classique de la posture rachidienne chez les patients porteurs d’une scoliose idiopathique de l’adolescent (SIA) se fait habituellement dans une position contrainte et statique en radiographie standard. Les conséquences sur la fonction rachidienne dynamique de ces déformations sont mal connues. Par ailleurs, les changements de la posture rachidienne au cours de la croissance et avec l’acquisition d’une marche stable n’ont encore jamais été explorés. L’analyse quantifiée du mouvement (AQM) d’une cohorte d’enfants sains a permis de mettre en évidence des modifications de la posture rachidienne dynamique au cours de la croissance, avec une augmentation de la gîte du tronc vers l’avant. Ces modifications s’accompagnaient de modifications anatomiques, en particulier au niveau des facettes articulaires cervicales. En AQM, les patients porteurs d’une SIA avaient des modifications du schéma de marche avec un décalage de phase à la marche entre la rotation des épaules et du bassin chez les patients scoliotiques. Il n’y avait pas de différence dans le schéma de marche entre les patients ayant une courbure thoracique droite et ceux ayant une courbure lombaire gauche. L’analyse de ces patients à 11 mois postopératoire a montré une restauration de certains paramètres grâce à la fusion vertébrale. Notamment, l’arthrodèse rachidienne postérieure de la courbure scoliotique a pour effet de faire disparaître le décalage de phase dans le plan transversal. L’AQM permet de mettre en évidence des modifications de la posture rachidienne chez ces patients et apparait comme un outil d’évaluation fondamental, qui pourrait nous permettre de mieux évaluer les traitements de la SIA. / In adolescent idiopathic scoliosis (AIS) patients, spinal posture is usually assessed in a constraint position with radiographic evaluation. However, the consequences of spinal deformity in these patients on the daily functioning of the spine remains unclear. On the other hand, spinal posture changes with normal growth and mature gait achievement have never been explored.A gait analysis was performed on a cohort of healthy children and highlighted changes in dynamic spinal posture with growth, showing that the trunk was increasingly leaning forward with mature gait achievement. These modifications were associated with anatomical changes, especially in the cervical spine.Changes in gait pattern were also observed in AIS patients thanks to gait analysis. In particular, there was a modification of upper trunk and pelvic rotation during gait. There was no difference in gait pattern according to major curve location. Eleven month postoperatively, our results showed that spinal fusion allowed restoration of a normal gait pattern, especially in the transversal plane.Gait analysis was able to highlight changes in dynamic spinal posture that occur in AIS patients, and thus appears as a major tool for spinal posture assessment in these patients. It could help us to improve the evaluation of the treatments that are proposed for spinal deformity correction.

Title: Sexual Dysfunction and Pelvic Floor Dysfunction in Patients with Systemic Rheumatic Diseases Objectives: To assess sexual functions, quality of life and pelvic floor function in female patients with Systemic Sclerosis (SSc) and Idiopathic Inflammatory Myopathies (IIM) compared to age-/sex-matched healthy controls (HC). Methods: In total, 41 women with SSc (mean age: 50.9, disease duration: 5.8 years), who fulfilled the ACR/EULAR 2013 classification criteria for SSc, 41 healthy controls (mean age: 50.9) without rheumatic diseases, 22 women with IIM [mean age: 55.1, disease duration: 7.9 years, dermatomyositis (DM, 8)/ polymyositis (PM, 10)/ necrotizing myopathy (IMNM, 3)/ inclusion body myositis (IBM, 1)], who fulfilled the Bohan/Peter 1975 diagnostic criteria for DM/PM, and 22 healthy controls (mean age: 55.1 years) filled in 12 well-established and validated questionnaires assessing sexual function/quality of life, pelvic floor function, fatigue, physical activity and depression. Results: Compared to HC, patients with SSc and IIM had significantly higher prevalence and greater severity of sexual dysfunction (FSFI, BISF-W: in all subscales as well as total scores), dysfunction of pelvic floor (PISQ-12), and worse sexual quality of life (SQoL-F). Worse scores in SSc patients were associated...

The aim of the study was to evaluate the importance of brain MRI's findings, and modify the criteria for brain MR imaging in NF1 patients according to this data, to improve the quality of life with early detection of important NF1 complications. Description of the whole cohort, with emphasise to possible cause of high range of sporadic NF1 cases. Evaluation the possibility diagnosis or follow up of brain gliomas by plasmatic values of neuron specific enolase (NSE) and S100B protein. Subjects and methods: I analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery. I evaluated the incidence of brain MRI findings, clinical development, age at gliomas manifestation and necessity of treatment. I also described the whole cohort and made statistic analysis of plasmatic values of NSE and S100B protein in NF1 patients, with and without brain gliomas. Results: OPGs were found in 77/285 (27 %) children and GOOPs in 29/285 (10.2 %) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30.5 %). Totally, 43/87 (49.4 %), respectively 43/285 (15.1 %) children with brain glioma were treated, and 4/285 (1.4 %) of this children died. Obstructive hydrocephalus was found in 22/285 (7.7 %) patients and was caused...

Although scoliosis is defined as a deviation of the spine in the frontal plane above 10ř according to Cobb, the spine is deformed in three planes. The chest is also affected at the same time. The most common type is idiopathic scoliosis, which has multifactorial etiopathogenesis. The thesis summarizes available information on kinesiology of the spine, classification of idiopathic scoliosis, its incidence, etiology, diagnostics, treatment and specific physiotherapeutic exercises. The practical part is devoted to assessing the symmetry of the patient's torso from the photographic documentation of the posture by SCODIAC 2.3. Indices evaluating hull asymmetry from the back or front (POTSI, ATSI) result from mathematical calculation. The smaller the number, the more symmetrical the posture. Correlation of POTSI index and Cobb angle is explored. 20 patients (18 girls and 2 boys) with idiopathic scoliosis up to 47ř according to Cobb aged between 7 to 18 years were selected for the study. All patients were subjected to anamnestic data collection, kinesiology analysis and a questionnaire. The results were statistically processed. SCODIAC software is one of the options offered to evaluate torso asymmetry and assess posture changes after therapy. It acts as a feedback for a physiotherapist and motivates...

Adolescent idiopathic scoliosis (AIS) is characterised as a three-dimensional deformity of the spine with unknown etiopathogenesis. There is evidence that scoliosis may be associated with abnormalities of the vestibular system. Examination of postural stability and verticality perception is a way to assess vestibular function. The objective of this work is to compare postural stability and subjective visual vertical (SVV) between adolescents with idiopathic scoliosis and healthy controls. Twelve AIS patients and twelve controls participated in the study. Examination of postural stability was performed through a Kistler force platform and the SVV was tested using a pre-programmed computed equipment Synapsys. An instrument for evaluating the perception patients have of their trunk deformity, Trunk Appearance Perception Scale (TAPS), was also part of the examination. Our results did not show a significant difference between the two groups in postural stability and static SVV-S. Statistically significant difference was found on dynamic SVV-D with clockwise rotation (p  0,01): AIS patients (1,19ř ± 1,03ř), control group (-0,17ř ± 0,82ř). There was also a significant difference on absolute deviation of dynamic SVV-D with clockwise rotation (p  0,05): AIS patients (1,50ř ± 0,77ř), control group (0,81ř ±...

Background: Chronic myeloproliferative disorders (CMPD) seem to be associated with an increased risk for pulmonary hypertension (PH). Case Report: A patient with history of chronic idiopathic myelofibrosis (CIMF) presented with progressive dyspnea (New York Heart Association class III). Until this time he had not received specific treatment for CIMF. Echocardiography and rightheart catheterization confirmed PH. Further diagnostic procedures excluded a specific cause of PH. Therefore, primary PH was assumed. 2 years later he presented again with progressive dyspnea due to a progress of PH. A few days later the patient died from acute posterior myocardial infarction. Pathologic examination of the lung showed an obstruction of the small vessels by conglomerates of megakaryocytes. Discussion: We conclude that PH developed secondarily due to CMPD. PH should be suspected in patients with CMPD and should influence the decision for treatment of CMPD. / Hintergrund: Chronische myeloproliferative Erkrankungen (CMPD) scheinen mit einem erhöhten Risiko für pulmonale Hypertonie (PH) assoziiert zu sein. Kasuistik: Ein Patient mit chronisch idiopathischer Myelofibrose (CIMF) wurde aufgrund einer progressiven Belastungsdyspnoe (New York Heart Association Stadium III) überwiesen. Bis zu diesem Zeitpunkt erhielt er keine spezifische Behandlung seiner CIMF. Echokardiographie und Rechtsherzkatheter ergaben das Vorliegen einer PH. Eine spezifische Ursache der PH konnte zunächst ausgeschlossen werden. Somit wurde das Vorliegen einer primären PH vermutet. 2 Jahre später wurde der Patient mit erneut verschlechterter Belastungsdyspnoe vorgestellt, wobei ein Progress der PH feststellbar war. Einige Tage später verstarb der Patient an einem Hinterwandinfarkt. Die Autopsie des Lungengewebes zeigte einen Verschluss der kleinen Lungengefäße durch Konglomerate von Megakaryozyten. Diskussion: Die Entwicklung der PH ist bei diesem Patienten als Folge der CMPD einzuschätzen. Das Vorliegen einer PH bei Patienten mit CMPD sollte die Entscheidung zu spezifischen therapeutischen Maßnahmen hinsichtlich der CMPD beeinflussen. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

Introduction: The inflammation plays the essential role in the bone loss in juvenile idiopathic arthritis (JIA). Proinflammatory cytokines and also glucocorticoids (GCs) may activate bone resorption by osteoclasts. Simultaneously, bone formation can be attenuated, especially by inhibitors of proteins, which control the osteoblast differentiation. The aim was to verify the hypothesis that in patients with highly active JIA, reduction of bone formation via Wingless (Wnt) proteins inhibitors - Dickkopf 1 (Dkk-1) and sclerostin could be found. Except the densitometry measurements of bone and lean mass, we assessed markers of disease activity, bone metabolism and remodeling in young adult patients with JIA before and during 2 years of anti TNFα (tumour necrosis factor α) treatment, which decreases disease activity. Results: In patients with JIA before antiTNFα treatment, bone mineral density (BMD, g/cmš) was significantly reduced compared to controls. Values of BMD and body composition in JIA significantly depended on disease duration and GCs treatment. Serum concentration of sclerostin was significantly elevated in JIA compared to values in healthy controls. Values of the other monitored markers did not differ between JIA and controls. In patients with JIA, Dkk-1 correlated positively with C-reactive...

Background: There are over 300 Primary Immunodeficiency diseases (PID) that are a result of a genetic or idiopathic dysfunction of any aspect of the immune system. These conditions result in a higher frequency of infections, autoimmune conditions, or malignancies. Moderate intensity exercise is thought to help the immune system, while high intensity exercise may have a negative impact on immune function. The impact of exercise on individuals with an impaired immune system due to PID is not yet understood. Purpose: The purpose of this study was to investigate whether a low to moderate intensity exercise program would have an effect on stress, fatigue, and quality of life (QoL) for individuals diagnosed with PID. Methods: 34 participants were included in this eight-week, mixed-methods, randomized controlled trial, either as part of the control group, or as part of the exercise intervention group. Participants completed pre- and post-study outcome measures, reflective journaling, and a post-study interview. Results: There were no statistically significant differences between the groups for the outcome measures, infection incidence, or need for non-routine medical care. There was a clinically significant decline in the Physical Component Summary score of the SF-36v2 for the control group at the end of the study. The scores for the SF-36v2, for all participants, were below normative scores for all domains, at the beginning and end of the study. Four main themes emerged from the qualitative interviews: living with a ‘new normal’, the challenges of living with a chronic disease, facing the stigma of a chronic disease, and wanting to exercise, but were too exhausted to do so. Conclusions: Individuals with a diagnosis of PID have lower QoL scores as compared to population norms. They face high levels of stress, overwhelming fatigue, social isolation, and decreased emotional well-being. Exercise programs for this patient population did not result in increased infections or need for non-routine medical care but did result in emotional implications that need to be considered. Healthcare providers need to address emotional well-being and provide coping strategies. Exercise programs should be designed with a slow, methodical ramp-up to avoid increasing fatigue or stress, while exercise goals must be highly achievable and realistic. Physical therapists should collaborate with other healthcare professionals for a more holistic and interprofessional approach to working with patients with a diagnosis of PID.