Vaccination Awareness Among Population in Canton Sarajevo, Bosnia and Herzegovina

One of the most successful inventions for modern medicine and public health are vaccines since they greatly influence our society. Administration of vaccine, vaccination, is a process in which an individual becomes immune to certain infectious diseases. Many diseases are eradicated with the usage of vaccines. The human population is a bit skeptical about vaccine safety and their side effects. Countries have developed their calendar of mandatory immunizations, and people are supposed to follow it regularly. In Bosnia and Herzegovina, immunization against some diseases, such as hepatitis b, rubella, diphtheria etc., is mandatory, and each individual should be vaccinated by 7 different vaccines, throughout their lifetime. Some vaccines are given once in the lifetime, and some should be repeated, according to the calendar. This research was conducted in Canton Sarajevo, and the survey was done by 330 persons of different gender, age, and education level. According to the results, 91,2% of respondents are supporting vaccination. Nevertheless, not all the respondents, or their children, have received all vaccines. There is no significant correlation between the level of education and vaccine awareness of respondents. This survey was done to see the awareness of vaccination of people living in Canton Sarajevo. The study was limited by the geographical area but could be improved if the whole country responds to the survey

Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism

Distinguishing between self limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and biochemical characteristics. and appear to lie within the same clinical spectrum. However, one is classically transient (SDLP) while the second is typically a lifetime condition (CHH). The natural history and long-term outcomes of these two conditions differ significantly and thus command distinctive approaches and management. Because the first presentation of SDLP and CHH is very similar (delayed puberty with low LH and FSH and low sex hormones), the scientific community is scrambling to identify diagnostic tests that can allow a correct differential diagnosis among these two conditions, without having to rely on the presence or absence of phenotypic red flags for CHH that clinicians anyway seem to find hard to process. Despite the heterogeneity of genetic defects so far reported in DP, genetic analysis through next-generation sequencing technology (NGS) had the potential to contribute to the differential diagnostic process between SLDP and CHH. In this review we will provide an up-to-date overview of the genetic architecture of these two conditions and debate the benefits and the bias of performing genetic analysis seeking to effectively differentiate between these two conditions

Table_1_Genetic and phenotypic differences between sexes in congenital hypogonadotropic hypogonadism (CHH): Large cohort analysis from a single tertiary centre.docx

BackgroundCongenital hypogonadotropic hypogonadism (CHH) is a condition with a strong genetic background, caused by a deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Published data on CHH cohorts indicate a male predominance, although this is not supported by our current understandings.AimsIn order to unravel the possible causes or contributors to such epidemiological sex difference, the aim of our study is to investigate differences in genetic background and clinical presentation between males and females in a large cohort of CHH patients.Materials and methodsWe enrolled 338 CHH patients with absent or arrested pubertal development, referred to our Center from 01/2016. Data collection included clinical assessment at diagnosis and genetic analysis performed by next generation sequencing (NGS), employing a custom panel of 28 candidate genes.ResultsAmong 338 patients 94 were female (F) and 244 male (M), with a ratio of 1:2.6. We found that 36.09% (122/338) of patients harbored potentially pathogenic rare genetic variants (RVs) with no significant differences between sexes; on the other hand, a significantly higher frequency of oligogenicity was observed in females (F 9,57% 9/94 vs M 3,69% 9/244, P = 0.034). The prevalence of non-reproductive phenotypic features was significantly higher (P = 0.01) in males (53/228, 23.2%) than in females (10/93, 10.8%): in particular, kidney abnormalities affected only male patients and midline defects had a significantly higher prevalence in males (P = 0.010). Finally, BMI SDS was -0.04 ± 1.09 in females and 0.69 ± 1.51 in males, with a statistically significant difference between groups (P = ConclusionOur data confirm the male predominance in CHH and identify some differences with regard to the clinical presentation between males and females that could indicate a variable expression of genetic rare variants and a dimorphic modulation of phenotype according to metabolic/behavioral factors, which will need to be substantiated and investigated by further studies.</p