Aim To asses relation of serum high sensitive C-reactive protein (hsCRP) level with albumin concentration in daily urine in patients with diabetes mellitus type 2 (T2DM). Methods The prospective study included 69 patients with T2DM, both sexes (24 males, 45 females), aged 30-82 years. They were divided into two groups: patients with T2DM and normoalbuminuria(T2DM-NA; n=40) and patients with T2DM and microalbuminuria (T2DM-MA; n=29). Patients were hospitalized at the Department of Internal Medicine, Cantonal Hospital Zenica, in the period January-April 2014. Immunonephelometry measurement of hsCRP was performed on the Nephelometer Analyzer BN II (Siemens, Germany). Results Frequency of patients in T2DM-NA and T2DM-MA groups was not significantly different in relation to sex and age. There was significant difference in relation to duration of diabetes ( p=0.001). Average glucose and HbA1c levels were significantly higher in T2DM-NA group comparing to T2DM-MA group (p=0.008 and p=0.047, respectively). Serum creatinine (p=0.011),urea (p=0.009) and hsCRP (p=0.005) were significantly higher in T2DM-MA group compared to T2DM-NA group. Urinary albumin showed significantly positive correlation with the hsCRP (rho=0.286; p=0.017), urea (rho=0.503) and creatinine (rho=0.438) (p < 0.0005). A one unit (mg/L) increase in hsCRP concentration was associated with 11.5% increase of odds of microalbuminuria OR=1.115; 95% CI 1.014-1.225; p=0.025). Conclusion Significantly higher values of serum hsCRP in patients with type 2 diabetes mellitus and microalbuminuria in comparison to those with normoalbuminuria as well as the correlation of values of inflammatory marker with urinary albumin implicate a low grade inflammation in the progression of diabetic nephropathy.

Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and with input from patients, 65 potential goals were formulated as statements. Consensus was considered to be reached when ≥75% of the participants agreed to include that specific statement in the management goals. There was agreement on 42 statements. In addition to the traditional goals concerning haematological, visceral and bone manifestations, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were included. When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account.

Aim To establish the presence of two risk factors, smoking and alcohol use, for non-communicable diseases among students at the University of Zenica. Methods The research was conducted at eight schools of the University of Zenica in the academic year 2016/2017 during the period from 1 December 2016 to 15 February 2017. The study involved 600 students 19-29 years of age (all years of study). The research was carried out with a standardized and validated questionnaire, the STEPS non-communicable Disease Risk Factors survey, developed by the World Health Organization. Results Tobacco was used by 145 (24.2%) students, 68 (46.9%) of them being males and 77 (53.1%) females (p<0.05). Males smoked 15.62 and females 13 cigarettes per day (p<0.05). On average, male participants were 16.56 years old, and female participants 16.71 when they started consuming cigarettes (p<0.05). A total of 289 (48.1%) students consumed alcohol, of whom 135 (70.2%) were males and 154 (37.7%) females (p<0.05). Conclusion There is evidence of high prevalence of smoking and alcohol usage as the risk factors for non-communicable diseases. Two levels of the prevention measures should be applied in order to reduce the prevalence of such risk factors: strategic level with a definition of the population, actors, activities, target population and anticipated results, and tactic level which will show contingency activities at the University.

Introduction Diabetes mellitus(DM) is considered an independent cardiovascular risk factor. Having in mind concomitant occurence of diabetes and other cardiovascular risk factors, it is expected that patients with poor glucoregulation will have more cardiovascular risk factors and higher cardiovascular risk than patients with good glucoregulation. Aim To compare cardiovascular risk and cardiovascular risk factors between patients with poorly controlled and patients with well-controlled Diabetes mellitus. Material and Methods Hundered ten patients aged 40-70 years suffering from Diabetes mellitus type 2 were included. Research is designed as a retrospective, descriptive study. Patients with glycosylated hemoglobin (HbA1c) > 7% were considered to have poorly controlled diabetes. The following data and parameters were monitored: age,sex, family history, data on smoking and alcohol consumption, BMI (body mass index), blood pressure, blood glucose, total cholesterol, triglycerides, LDL, HDL, fibrinogen, uric acid. For the assessment of cardiovascular risk, the WHO / ISH (World Health Organization/International Society of hypertension) tables of the 10-year risk were used, and due to the assessment of the risk factors prevalence, the optimal values of individual numerical variables were defined. Results Differences in the mean values of systolic, diastolic blood pressure, fasting glucose, total cholesterol, LDL cholesterol are statistically significant higher in patients with poorly controlled diabetes. Hypertension more frequently occurre in patients with poorly controlled DM. The majority of patients with well-controlled DM belong to the group of low and medium cardiovascular risk, while the majority of patients with poorly controlled DM belong to the group of high and very high cardiovascular risk. In our research, there was a significant difference in cardiovascular risk in relation to the degree of DM regulation, and HbA1c proved to be an important indicator for the emergence of the CVD. Conclusion There are significant differences in certain risk factors between patients with poorly controlled and well controlled DM. Patients with poorly controlled diabetes mellitus have a higher cardiovascular risk than patients with well controlled diabetes. The value of HbA1c should be considered when assessing cardiovascular risk.

Aim The aim of the paper is to present the risk of pregnancy for mother and her child in a young patient who had a surgery to repair Tetralogy of Fallot (ToF), who gave a birth to her firstborn by having a cesarean section. Case report 23 years old patient, in 28 weeks of pregnancy was admitted to the clinic due to her medical record. She did not have any subjective complaints. She had two surgeries to repair ToF. After the surgery, she had residual ventricular septal defect (VSD). She had her first surgery 20 years ago (she was 3 years old), and second 7 years ago (she was 16). She had regular check-ups since, and her heart condition was unchanged. Due to her heart surgeries and VSD, a cardiologist indicates that she should deliver by having a c-section when she is 36 weeks pregnant. The patient’s heart condition was stabilized and the patient was sent home. She was recommended to have her cardiologist check up on her as she leaves the hospital and to have a gynecological examination in 6 weeks. Conclusion It can be concluded that team work and prenatal care, in most cases, lead to delivery without complication, both for mother and fetus.

High-throughput sequencing provides the means to determine the allelic decomposition for any gene of interest—the number of copies and the exact sequence content of each copy of a gene. Although many clinically and functionally important genes are highly polymorphic and have undergone structural alterations, no high-throughput sequencing data analysis tool has yet been designed to effectively solve the full allelic decomposition problem. Here we introduce a combinatorial optimization framework that successfully resolves this challenging problem, including for genes with structural alterations. We provide an associated computational tool Aldy that performs allelic decomposition of highly polymorphic, multi-copy genes through using whole or targeted genome sequencing data. For a large diverse sequencing data set, Aldy identifies multiple rare and novel alleles for several important pharmacogenes, significantly improving upon the accuracy and utility of current genotyping assays. As more data sets become available, we expect Aldy to become an essential component of genotyping toolkits. Many genes of functional and clinical significance are highly polymorphic and experience structural alterations. Here, Numanagić et al. develop Aldy, a computational tool for resolving the copy number and the sequence content of each copy of a gene by analyzing whole or targeted genome sequencing data.

Background Agreement on the utility of imaging follow-up in patients with high-risk melanoma is lacking. A UK consensus statement recommends a surveillance schedule of CT or positron-emission tomography-CT and MRI brain (every 6 months for 3 years, then annually in years 4 and 5) as well as clinical examination for high-risk resected Stages II and III cutaneous melanoma. Our aim was to assess patterns of relapse and whether imaging surveillance could be of clinical benefit. Patients and methods A retrospective study of patients enrolled between July 2013 and June 2015 from three UK tertiary cancer centres followed-up according to this protocol was undertaken. We evaluated time-to-recurrence (TTR), recurrence-free survival (RFS), method of detection and characteristics of recurrence, treatment received and overall survival (OS). Results A total of 173 patients were included. Most (79%) had treated Stages IIIB and IIIC disease. With a median follow-up of 23.3 months, 82 patients (47%) had relapsed. Median TTR was 10.1 months and median RFS was 21.2 months. The majority of recurrences (66%) were asymptomatic and detected by scheduled surveillance scan. Fifty-six (68%) patients recurred with Stage IV disease, with a median OS of 25.3 months; 26 (31.7%) patients had a locoregional recurrence, median OS not reached (P=0.016). Patients who underwent surgery at recurrence for either Stage III (27%) or IV (18%) disease did not reach their median OS. The median OS for the 33 patients (40%) who received systemic therapy was 12.9 months. Conclusion Imaging appears to reliably detect subclinical disease and identify patients suitable for surgery, conferring favourable outcomes. The short median TTR provides rationale to intensify imaging schedule in the first year of surveillance. The poor OS of patients treated with systemic therapy probably reflects the relatively inferior treatment options during this time and requires further evaluation in the current era.