Publications

Epilepsy, hearing loss, mental retardation syndrome (EHLMRS, OMIM 616577) is a rare disorder due to mutations in the SPATA5 gene on chromosome 4q28 with an AR inheritance. EHLMRS is characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency and thrombocytopenia.The authors report two clinical cases with EHLMRS and a new likely pathogenic disease causing missense variant c.1831C>T of the SPATA5 gene.  Read the whole article here.

Chromosomal aberrations are the underlying cause in more than half of the early spontaneous abortions, with the greatest part being due to autosomal trisomies in particular.We are presenting a case of a couple, consulted in regards to a spontaneous abortion in 5th gestational week that is second consecutive abortion with the current partner and third consecutive pregnancy. Cytogenetic analysis on cultivated fibroblasts from abortive material was performed, examining 11 metaphases plates with the use of the GTG-banding technique. Lymphocytic cultures from both parents were also analysed in order to exclude balanced chromosomal rearrangements.It was established that the foetus had 47,XY,+16 karyotype, a complete form, with 150 bands resolution. The cytogenetic analysis of the parents confirmed normal karyotype – 46,XX for the mother and 47,XY,22pstk+ps+ for the father, with 400-550 bands resolution, GTG-banding. Аn incompatible with life sporadic mutation is confirmed in the fetus, that occurred either during gametogenesis or very early in the ontogenetic development. The risk for reoccurrence is considered low, equal to the risk in the general population.The current publication aims to demonstrate the contemporary application of the cytogenetic analysis in clarification of the aetiology of spontaneous abortions and the related genetic consultation in such cases. Given the advance in molecular-genetic techniques, which are unfortunately not yet offered massively enough in the country, this is a well-known, economically convenient and not so rarely performed method in spite of its disadvantages. Read the whole article here.

Medication related osteonecrosis of the jaw (MRONJ) is a serious side effect of anti-resorptive and anti-angiogenic agents. This is a potentially painful and debilitating condition that can significantly affect patients’ quality of life. In this report, we present the case of a 67-year-old female patient who was diagnosed with left breast cancer in 2014. In 2015, bone grafts were detected, and the patient began denosumab and zoledronic acid therapy. After extraction of a tooth in 2016, the bone of the mandible was exposed and osteonecrosis was diagnosed. The patient was admitted to the Clinic of Maxillofacial Surgery for treatment in Plovdiv, where she underwent computed tomography of the lower jaw (CTLM) and then underwent platelet-rich fibrin (PRF) treatment. After hemostasis, PRF was applied and the wound was sutured tightly. The patient was followed up within 1 year and very good results were found with regard to soft tissues and bone at the site of the osteonecrotic lesion. Based on the findings in the literature and in the case described here, it can be concluded that the use of PRF should be considered in the treatment of patients with MRONJ. Read the whole article here.

Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances. For more information click here. For more information click here.