HLA Associations and Risk of Posttransplant Lymphoproliferative Disorder in a Danish Population-Based Cohort

Granični poremećaj ličnosti je učestali psihički poremećaj koji se manifestira kroz simptome afektivne nestabilnosti, impulzivnog i nekontroliranog ponašanja, poremećaj identiteta, nestabilne interpersonalne odnose i moguće pogreške u testiranju realiteta uslijed kojih osoba može imati značajnih poteškoća u osobnom, roditeljskom, obiteljskom, socijalnom i radnom funkcioniranju. Svrha ovog istraživanja je dobiti uvid u iskustva rada stručnih djelatnika Odjela za zaštitu djece, obitelji i braka pri centru za socijalnu skrb, a ciljevi istraživanju su dobiti uvid u prepoznavanje simptoma graničnog poremećaja ličnosti , teškoće i potrebe stručnih djelatnika Odjela za zaštitu djece, obitelji i braka. Kvalitativno istraživanje provedeno je metodom polustrukturiranog intervjua s 12 stručnjaka zaposlenih na Odjelu za zaštitu djece, obitelji i braka pri centrima za socijalnu skrb na području grada Zagreba i Zagrebačke županije. U obradi podataka korištena je tematska analiza. Rezultati istraživanja pokazuju da stručnjaci prepoznaju različite simptome afektivne nestabilnost, impulzivnog i nekontroliranog ponašanja, smetnji identiteta, nestabilnih i intenzivnih interpersonalnih odnosa te teškoća testiranja realiteta. Simptomi graničnog poremećaja ličnosti roditelja najčešće dolaze do izražaja u situacijama prekida bračne ili izvanbračne zajednice koji često imaju obilježja visokonfliktnih razvoda, tijekom postupaka odlučivanja o roditeljskoj skrbi, obiteljskog i partnerskog nasilja te zlostavljanja i zanemarivanja djece zbog čega stručnjaci poduzimaju različite psihosocijalne intervencije i mjere obiteljsko pravne zaštite. Prema rezultatima istraživanja teškoće stručnjaka tijekom rada s roditeljima s dijagnozom i/ili simptomima graničnog poremećaja ličnosti proizlaze iz neposrednog rada s roditeljima, organizacije i uvjeta rada u centrima za socijalnu skrb te suradnje s drugim sustavima. Roditelji sa simptomima ovog poremećaja ličnosti prepoznati su kao nedobrovoljni korisnici skloni manipulaciji djetetom, drugim roditeljem, stručnjacima, policijom, pravosudnim, zdravstvenim i socijalnim sustavom. Rad stručnjaka otežavaju i dodatne teškoće kao što su preopterećenost količinom posla, nedovoljan broj stručnih djelatnika, neadekvatni prostorni uvjeti rada u centrima za socijalnu skrb i otežana suradanja s drugim sustavima. Nadalje, stručnjaci izvještavaju o izloženosti visokoj razini profesionalnog stresa i doživljenim simptomima sagorijevanja. U skladu s iskazanim teškoćama, stručnjaci ukazuju na nužnost unaprjeđenja suradnje s drugim sustavima, posebice s pravosudnim, zdravstvenim i obrazovnim sustavom, povećanja broja zaposlenih stručnih djelatnika, zapošljavanje psihijatra u centre za socijalnu skrb, uključenost u redovite edukacije i supervizije. Nadalje, stručnjaci iskazuju potrebu za dodatnim ovlastima kao što su mogućnost obveznog upućivanja korisnika na liječenje i konstatiranja nedostupnosti intervencijama socijalne službe.Borderline personality disorder is a frequent psychiatric disorder which manifests itself through several symptoms: affective instability, impulsive and disinhibited behaviour, disturbed sense of identity, unstable interpersonal relationships and possible stress-related reduction of contact with reality. The afflicted person may have significant difficulties in personal, parental, familial, social and work functioning. The purpose of this research was to gain insight into experiences of experts working in the Department for protection of children, family and marriage of the Social Welfare Centre. Qualitative research has been conducted using semi-structured interviews with 12 experts working in the Department for protection of children, family and marriage of Social Welfare Centres located in Zagreb and Zagreb County. Collected data was analysed using thematic analysis. Results have demonstrated that experts recognize various symptoms of affective instability, impulsive and disinhibited behaviour, identity disturbances, unstable and intense interpersonal relationships and reduction of contact with reality. Symptoms of parental borderline personality disorder most frequently appear after a divorce or separation which often have characteristics of high-conflict divorce, during procedures related to child custody, familial and domestic violence, as well as child abuse and neglect, forcing experts to do various psychosocial interventions and implement measures related to protection of the family. According to results of this research difficulties expressed by experts working eith parents with a diagnosis and/or symptoms of borderline personality disorder are the result of direct work with the parents, organisation and work conditions in Social Welfare Centres and cooperation with other systems. Symptomatic parents are recognized as involuntary clients prone to manipulation of children, other parent, experts, the police, the justice system, healthcare system and social system. There are additional difficulties for experts working with these parents, such as work overload, insufficient number of experts, inadequate working space in Social Welfare Centres and difficulties cooperating with other systems. Experts also report being exposed to high level of professional stress and experiencing symptoms of burn-out. Consistently with these difficulties, experts reported needing to improve cooperation with other systems, especially with the justice, healthcare and education systems, increase the number of hired experts, hire psychiatrists in Social Welfare Centres and taking part regularly in educations and supervisions. Experts also reported needing additional authorities, such as the possibility of mandatory reference to treatment of clients and the possibility of establishing the unavailability of social services interventions

Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure

IMPORTANCE: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia. OBJECTIVE: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv). DESIGN, SETTING, AND PARTICIPANTS: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018. Data analyses were conducted between June and October, 2020. MAIN OUTCOMES AND MEASURES: The primary end point was a composite of malignant ventricular arrhythmia (MVA) (sudden cardiac death, aborted sudden cardiac death, appropriate implantable cardioverter-defibrillator shock, and sustained ventricular tachycardia) and end-stage heart failure (heart transplant or mortality associated with end-stage heart failure). The secondary end point comprised MVA events only. RESULTS: In total, 167 patients with FLNCtv were studied (55 probands [33%]; 89 men [53%]; mean [SD] age at baseline evaluation, 43 [18] years). For a median follow-up of 20 months (interquartile range, 7-60 months), 29 patients (17.4%) reached the primary end point (19 patients with MVA and 10 patients with end-stage heart failure). Eight (44%) arrhythmic events occurred among individuals with baseline mild to moderate left ventricular systolic dysfunction (LVSD) (LVEF = 36%-49%). Univariable risk factors associated with the primary end point included proband status, LVEF decrement per 10%, ventricular ectopy (≥500 in 24 hours) and myocardial fibrosis detected on cardiac magnetic resonance imaging. The LVEF decrement (hazard ratio [HR] per 10%, 1.83 [95% CI, 1.30-2.57]; P < .001) and proband status (HR, 3.18 [95% CI, 1.12-9.04]; P = .03) remained independent risk factors on multivariable analysis (excluding myocardial fibrosis and ventricular ectopy owing to case censoring). There was no difference in freedom from MVA between FLNCtv carriers with mild to moderate or severe (LVEF ≤35%) LVSD (HR, 1.29 [95% CI, 0.45-3.72]; P = .64). Carriers of FLNCtv with impaired LVEF at baseline evaluation (n = 69) had reduced freedom from MVA compared with 244 TTNtv carriers with similar baseline LVEF (for mild to moderate LVSD: HR, 16.41 [95% CI, 3.45-78.11]; P < .001; for severe LVSD: HR, 2.47 [95% CI, 1.04-5.87]; P = .03). CONCLUSIONS AND RELEVANCE: The high frequency of MVA among patients with FLNCtv with mild to moderate LVSD suggests that higher LVEF values than those currently recommended should be considered for prophylactic implantable cardioverter-defibrillator therapy in FLNCtv carriers