Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1–2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diagnosis. We used exome sequencing to seek a genetic cause in a group of 56 subjects (49 probands) with HL: 32 with non-syndromic non-GJB2 HL and 17 with syndromic HL. Following clinical examination and clinical exome sequencing, an etiological diagnosis was established in 15 probands (15/49; 30%); eight (8/17;47%) from the syndromic group and seven (7/32; 21%) from the non-syndromic non-GJB2 subgroup. Fourteen different (half of them novel) non-GJB2 variants causing HL were found in 10 genes (CHD7, HDAC8, MITF, NEFL, OTOF, SF3B4, SLC26A4, TECTA, TMPRSS3, USH2A) among 13 probands, confirming the genetic heterogeneity of hereditary HL. Different genetic causes for HL were found in a single family while three probands with apparent syndromic HL were found to have HL as a separate clinical feature, distinct from the complex phenotype. Clinical exome sequencing proved to be an effective tool used to comprehensively address the genetic heterogeneity of HL, to detect clinically unrecognized HL syndromes, and to decipher complex phenotypes in which HL is a separate feature and not part of a syndrome.

Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period. Based on the positive FISH results for each syndrome, the incidence was calculated for the Federation of Bosnia and Herzegovina. These are the first reported frequencies of the microdeletion syndromes in the Federation of Bosnia and Herzegovina.

OBJECTIVE The aim of the study was to determine the epidemiological characteristics of bacterial meningitis observed in neonates born in the Department of Gynaecology and Obstetrics, University Clinical Centre Tuzla, Bosnia and Herzegovina, admitted to Intensive care unit (NICU) or readmitted, because of suspected infection, after discharge from the nursery. SUBJECTS AND METHODS This study was carried out from July 1, 2012 to June 30, 2013. During this period 4136 neonates were born. All neonates admitted to the Intensive care unit with signs and symptoms of systemic infections, and neonates readmitted to the Intensive care unit, after discharge from the nursery for sepsis work up were included in the study. RESULTS Eighteen of 200 neonates (9%) admitted or readmitted to the NICU developed meningitis. 61% cases were late onset meningitis. The overall incidence was 4.4/1000 live births. The mortality rate was 11.1%. The mean age of symptom presentation was 8.7 days. The most common clinical features were: fever, respiratory distress and jaundice. Significant risk factors for acquiring meningitis were: male gender, Caesarean delivery, stained amniotic fluid. Positive CSF finding were detected in 6/18 (33.3%) of cases. Gram-positive bacteria were more frequently responsible for confirmed meningitis. In all neonates with meningitis blood culture was examined and 5 (50%) yielded Gram-negative bacteria. CONCLUSION The high rates of neonatal meningitis with predominant late onset may suggest nosocomial origin. Measures to improve antenatal, intrapartum and delivery care and measures during NICU hospitalisation are necessary to lower the risk of nosocomial infections.

Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra chromosome 21 and one of the most common causes of mental retardation. Down syndrome is associated with characteristic facial features, cognitive impairment, learning disabilities, short stature, and other less common serious illnesses including leukemia, immune deficiencies, and epilepsy. Down syndrome can be identified during pregnancy or at birth. The incidence of Down syndrome is estimated at 1 to 3 per 1000 births, although these statistics are heavily influenced by, in particular, the age of the mother. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophagea reflux disease, recurrent infection, hearing deficits or chronic serous otitis media, obstructive sleep apnea, thyroid dysfunctions and Alzheimer’s disease. Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Current and comprehensive information about medical problems in individuals with Down syndrome is important for counseling parents and planning health care provision for people with Down syndrome.

Down Syndrome (DS) or trisomy 21 (T21) is the most frequent and the best known malformation syndrome associated with mental deficiency that appears in human,. Average incidence of this syndrome is about 1:700 newborns. Numerous researchers noted thyroid disorders in people with Down Syndrome but, clinical symptoms of thyroid dysfunction are difficult to separate from DS phenotype. The aim of this study was to examine the thyroid function in the patients with DS. Our results confirmed higher frequency of thyroid dysfunction in DS patients. Higher values of TSH were found in 60,34% of the examined DS patients, which is significantly higher value comparing with the control group (p<0,01). Compensated hypothyroidism was established in 27,92% of the examined DS patients, and most of those (63,23%) were younger than 6 years. The conclusions emphasize the necessity of implementation of thyroid function screening program in persons with DS, and the need for adequate treatment of its dysfunction. Thus, the symptoms of the disease would be alleviated and better physical and mental fitness ensured.

Gangliozidoza tip I (GM1) je autosomno recesivna bolest uzrokovana taloženjem gangliozida i oligosaharida u lizosomima uslijed nedostatka enzima belta-galaktozidaze. Fenotipsko ocitovanje je raznoliko, te razlikujemo infantilni, juvenilni i odrasli oblik bolesti. Prikazujemo djevojcicu s teskim infantilnim oblikom GM1.

Gangliozidoza tip I (GM1) je autosomno recesivna bolest uzrokovana taloženjem gangliozida i oligosaharida u lizosomima uslijed nedostatka enzima belta-galaktozidaze. Fenotipsko ocitovanje je raznoliko, te razlikujemo infantilni, juvenilni i odrasli oblik bolesti. Prikazujemo djevojcicu s teskim infantilnim oblikom GM1. Rođena je iz 5. majcine trudnoce. Tri su trudnoce zavrsile spontanim pobacajem ili mrtvorođenjem, a iz jedne se rodilo musko dijete koje se uredno razvija. Djevojcicu smo imali prilike pregledati u dobi od 13 mj. kada su zapaženi neproporcionalno smanjeni rast, Hurlerin fenotip, hepatosplenomegalija, te zaostajanje u psihomotornom razvoju, hipotonija i hipotrofija. Klinicka sumnja na GM1 potvrđena je biokemijskim nalazima - niskom razinom beta galaktozidaze u leukocitima i povecanim izlucivanjem oligosaharida i keratan sulfata u urinu. Bolesnica je umrla u dobi od 18 mjeseci uslijed kardiorespiratornog zatajenja. DNA analiza galaktozidaza beta 1 gena otkrila je da je bolesnica homozigot za mutaciju Y270D. Ova missense tockasta mutacija dovodi do negativnog naboja u visoko ocuvanoj domeni eznima, u neposrednoj blizini katalitickog mjesta (G 268). Mutacija je opisana u jednog bolesnika sa juvenilnom GM1 (Paschke i sur., 2001 ; 109:159-166), u kombinaciji s mutacijom T82M koja se nalazi kod adultnih bolesnika. Možemo zakljuciti da je ova mutacija u homozigotnom obliku povezana s vrlo teskim oblikom GM1 gangliozidoze.