Mood disorders and 5-HTR2A genetic variants - the moderator effect of inflammation on expression of affective polarity phenotype.

Background: Although repeatedly confirmed, the molecular nature of gene-environment (GxE) interactions has rarely been investigated in the clinical context of mood disorders. This study assesses the relationship between HTR2A genetic variants and the modulatory effect of inflammation in a collective cohort of patients with major depressive disorder (MDD) and bipolar disorder (BD), as a unified group with two distinct phenotypes.

Methods: The study included 138 patients with acute mood episodes (BD = 83; MDD = 55).

Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.

Innovative treatments for spinal muscular atrophy (SMA) yield the utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening (NBS). We aimed to establish statewide NBS for SMA in Serbia. Our stepwise implementation process involved technical validation of a screening assay, collaboration with patient organizations and medical professionals, a feasibility study, and negotiation with public health representatives.

Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.

Introduction: Biomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise.

Methods: We conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1:  = 6, 2:  = 17, 3:  = 6). pNF-H levels before and during treatment were compared with the levels of controls ( = 22), patients with Duchenne muscular dystrophy ( = 17), myotonic dystrophy type 1 ( = 11), untreated SMA individuals with chronic type 3 disease ( = 8), and children with presymptomatic SMA ( = 3).

Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients.

Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients.

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the Gene in Two Serbian Adult Patients.

Purpose: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss. The most common causes of KID syndrome are heterozygous missense mutations in the gene that codes for connexin 26.

Case Report: During the ophthalmological examination, two adult females complained of recent worsening of visual acuity in both eyes.

Campylobacter fetus infection presenting with bacteremia and cellulitis in a 72-year-old man with an implanted pacemaker: a case report.

Introduction: Campylobacter is an important causative agent of intestinal infections in humans. Bacteremia is detected in less than 1% of patients, mainly in immunocompromised patients and in extreme age groups. Cellulitis is a relatively common manifestation of Campylobacter infection, but concomitant bacteremia is a rare event.

Late ventriculoperitoneal shunt infection caused by Shewanella algae.

We present a case of ventriculitis and peritonitis in a child with ventriculoperitoneal shunt, which occurred 5 years after the surgery. The infection developed after contact with seawater and began as otitis. For the first time, Shewanella algae, a marine microorganism, was identified as the cause of ventriculoperitoneal shunt infection.

Long-term course and treatment of a cutaneous BCG infection.

The authors report and discuss a rare case of the long-term course and treatment of cutaneous BCG infection in an HIV-negative, healthy nurse. Over 5 years we cured the wrist and lower leg cutaneous tuberculosis infection caused by an accident at work. Persistent antituberculous therapy and surgical procedure were applied, but after detection of an encapsulated abscess in the wrist followed by needle aspiration, antituberculous therapy was sufficient and our patient was cured.

[Haemophilus parainfluenzae--a rare cause of endocarditis].

Haemophilus parainfluenzae endocarditis is a rare acute or subacute disease. It is usually associated with dental and surgical procedures in the oral cavity. In a 23-year-old athlete admitted to Department of Infectious Diseases, Split University Hospital, the diagnosis of infective endocarditis was established based on Duke's criteria.

Erysipelas-like cellulitis with Pasteurella multocida bacteremia after a cat bite.

A 73-year-old female patient presented with Pasteurella multocida erysipelas-like cellulitis, bacteremia, and shock. The onset of the disease occurred 24 h after a cat bit her to the right lower leg. Initially, the picture of bacteremia and shock developed, with minimal local cellulitis.

The effect of X-irradiation on phytohemagglutinin (PHA)-stimulated rat lymphocytes.

The effect of X-irradiation on PHA-stimulated rat lymphocytes has been investigated. The animals were exposed to doses of 100 to 800 R. Blood obtained by cardiac puncture was defibrinated and the lymphocytes sedimented by Dextraven.

Experimental and clinical investigations on stem cell take and colony formation.

First, lymphocyte transplantation into total body-irradiated rats is discussed. The effect on spleen colony formation caused by the transplantation of untreated lymphocytes, as well as of lymphocytes previously incubated with PHA, or with PHA plus L-asparaginase, or with lymphokines, was studied. Then the effect of the urinary colony-stimulating factor in vitro, and the in vitro feeder-layer activity of leucocytes on colony formation of human and mice bone marrow cells in haematological diseases is dealth with.

Administration of peripheral-blood rat-lymphocytes stimulated "in vitro" with human lymphokines and spleen colonies in the total body irradiated rat.

It was previously reported that PHA-incubation of a pool of peripheral-blood lymphocytes before their i.v. injection into rats submitted to total body irradiation, stimulates spleen colony formation and growth.