A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome

MELAS is a systemic hereditary condition that can present as hypertrophic or mixed hypertrophic and dilated phenotype cardiomyopathy in young individuals, although a late-onset form is also described in the literature. Genetic testing is essential for correct diagnosis and appropriate management

Hepatitis B Virus Genotypes and Antiviral Resistance Mutations in Romanian HIV-HBV Co-Infected Patients

Background and Objectives: Romania has one of the highest prevalence of hepatitis B virus (HBV) infection in human immunodeficiency virus (HIV) patients, mostly in those parenterally infected during childhood; nevertheless, there are scarce data on the virological profile of co-infection. The objective of this study was to assess the prevalence of HBV genotypes and antiviral resistance-associated mutations (RAMs) in these co-infected patients, in order to monitor the viral factors associated with the evolution of liver disease. Materials and Methods: HBV genotypes and RAMs were detected using nested PCR and line probe assays (INNO-LiPA HBV genotyping assay, and INNO-LiPA HBV DR v2, Innogenetics). Results: Out of 117 co-infected patients, 73.5% had detectable HBV-DNA, but only 38.5% presented an HBV viral load >1000 IU/mL. HBV genotype A was present in 66.7% of the cases and was dominant in patients parenterally infected during early childhood, who experienced multiple treatment regimens, with a mean therapy length of 15.25 years, and present numerous mutations associated with lamivudine (LAM) resistance, but very rarely active liver disease. HBV genotype D was detected in 33.3% of the cases, mostly in recently diagnosed injecting drug users who are treatment naïve, but, nevertheless, present RAMs in 63.5% of the cases, suggesting transmitted drug resistance, and display more frequently advanced liver fibrosis (36.1% vs. 12.3%; p = 0.033). The most frequently encountered RAMs are M204V/I: 48.8%, L180M: 33.3%, L80V: 28.8%, and V173L: 42.2%. There are no significant differences in the distribution of RAMs in patients infected with different HBV genotypes, except for the L80V and N236T mutations, which were more frequently found in HBV genotype A infections (p = 0.032 and p = 0.004, respectively). Conclusions: HBV genotypes A and D are the only genotypes present in HIV–HBV co-infected patients from Romania, with different distributions according to the infection route, and are frequently associated with multiple RAMs, conferring extensive resistance to LAM

MANAGEMENTUL PACIENTULUI CONSUMATOR DE DROGURI INTRAVENOASE CU ENDOCARDITĂ INFECŢIOASĂ PE CORD DREPT

Introducere. Endocardita infecţioasă pe cord drept (EICD) beneficiază de o menţiune specială în cel mai recent ghid de management al endocarditei infecţoase (EI) al Societăţii Europene de Cardiologie (ESC), prin prisma particularităţilor de epidemiologie, prognostic, complicaţii, management medical şi chirurgical pe care le prezintă (1). Principalul factor de risc pentru dezvoltarea EICD este reprezentat de consumul de droguri intravenoase, comportament ce explică, totodată, creşterea incidenţei EICD în ţările dezvoltate, în rândul populaţiei tinere (2,6). Materiale şi metodă. Prezentăm cazul unui pacient în vârstă de 25 de ani, consumator de droguri intravenoase (CDI), care se internează în Spitalul Clinic de Boli Infecţioase şi Tropicale „Dr. Victor Babeş“ pentru astenie marcată, febră şi artralgii generalizate, debutate la scurt timp după autoadministrarea de heroină intravenos. Prezentarea clinică sugestivă pentru sepsis şi indice crescut de suspiciune pentru EICD au ghidat investigaţiile paraclinice ulterioare şi terapia antibiotică empirică. Rezultate. Diagnosticul pozitiv de sepsis a fost stabilit odată cu pozitivarea primei hemoculturi pentru Staphylococcus aureus meticilino-sensibil, în asociere cu un scor SOFA de 4 puncte, iar confirmarea diagnosticului de EICD a venit odată cu descrierea ecocardiografică a existenţei de vegetaţii la nivelul valvei tricuspide, iniţial însumându-se 1 criteriu Duke major şi 3 minore. Evoluţia lent favorabilă a pacientului, dezvoltarea insuficienţei severe de valvă tricuspidă, persistenţa infecţiei sub antibioterapie şi riscul emboligen crescut calificau pacientul pentru intervenţia chirurgicală cu scop de înlăturare a focarului infecţios şi restaurare a funcţionalităţii aparatului valvular. Concluzii. În cazul pacientului nostru, acelaşi comportament generator al patologiei, CDI, a determinat şi temporizarea intervenţiei chirurgicale, în condiţii de stabilitate hemodinamică, până la menţinerea unui sevraj de durată la heroină. Pacientul a solicitat externarea la cerere înainte de finalizarea curei antibiotice, reiterând prin aceasta necesitatea abordării EI la CDI de rutină într-o echipă multidisciplinară, care să includă medic infecţionist, cardiolog, chirurg cardiovascular, psiholog, psihiatru şi grupuri de suport, atât pentru creşterea aderenţei la tratament, cât şi pentru scăderea morbidităţii şi mortalităţii de toate cauzele, a riscului de recurenţă a EI şi a reluării CDI

MANAGEMENT OF A PATIENT WHO INJECT DRUGS, PRESENTING WITH RIGHT-SIDED INFECTIVE ENDOCARDITIS

Background. Right-sided infective endocarditis (RSIE) benefits from a special reference in the latest European Society of Cardiology (ESC) guidelines for the management infectious endocarditis, due to its epidemiology, prognosis, complications, medical and surgical management and presentation particularities (1). The main risk factor for RSIE is the use of intravenous drugs, a behavior that also explains the growing incidence of RSIE in developed countries, especially among the young population (2,6). Material and methods. We present the case of a young intravenous drug user (IDU) admitted to our hospital for fatigue, fever and generalized arthralgias, which developed shortly after self-administration of iv. heroin. The clinical presentation suggestive for sepsis, together with the high suspicion for RSIE guided the subsequent paraclinical investigations and empirical antibiotic therapy. Results. The positive diagnosis of sepsis was made once the first blood culture confirmed the presence of methicillin-sensitive Staphylococcus aureus (MSSA), in addition to a SOFA score of 4. Confirmation of RSIE came with the echocardiographic description of vegetations on the tricuspid valve, summing up 1 major and 3 minor modified Duke criteria. The patient had a slow, but favorable evolution, however, he developed severe tricuspid insufficiency, the infection persisted under antibiotic therapy with an increased risk of septic embolization, all of which qualified the patient for cardiac surgery to remove the infectious focus and restore the functionality of the tricuspid valve. Conclusions. In this case, the same behavior that generated the pathology, iv. drug use, also determined deferral of the surgery, under conditions of hemodynamic stability, until a long-term withdrawal of heroin was attained. The patient was discharged upon request before the end of the antibiotic treatment, thus reiterating the need to routinely approach RSIE in IDU in a multidisciplinary “endocarditis team”. The main goal of this approach is to increase adherence to treatment, as well as to decrease morbidity and mortality of all causes, the risk of RSIE recurrence and IDU resumption

The Spectrum of Extraglandular Manifestations in Primary Sjögren’s Syndrome

Extraglandular manifestations (EGMs) in primary Sjogren’s syndrome (pSS) represent the clinical expression of the systemic involvement in this disease. EGMs are characterized by a wide heterogeneity; virtually any organ or system can be affected, with various degrees of dysfunction. The existing gaps of knowledge in this complex domain of extraglandular extension in pSS need to be overcome in order to increase the diagnostic accuracy of EGMs in pSS. The timely identification of EGMs, as early as from subclinical stages, can be facilitated using highly specific biomarkers, thus preventing decompensated disease and severe complications. To date, there is no general consensus on the diagnostic criteria for the wide range of extraglandular involvement in pSS, which associates important underdiagnosing of EGMs, subsequent undertreatment and progression to severe organ dysfunction in these patients. This review article presents the most recent basic and clinical science research conducted to investigate pathogenic mechanisms leading to EGMs in pSS patients. In addition, it presents the current diagnostic and treatment recommendations and the trends for future therapeutic strategies based on personalized treatment, as well as the latest research in the field of diagnostic and prognostic biomarkers for extraglandular involvement in pSS