Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 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 GJB2 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. Anamnesis revealed that their eyes were red and irritated from early childhood onwards. Both of them had thickening and keratinisation of eyelid margins, lash loss, diffuse opacification of cornea and conjunctiva caused by keratinisation of eye surface, superficial and deep corneal vascularisation and corneal oedema. Partial sensorineural hearing loss and difficulties in speech were also noted along with typical ichthyosiform erythroderma. Genetic testing of the GJB2 gene revealed a heterozygous p.D50N mutation in both patients.Patients were treated with a combined topical corticosteroid and artificial tears therapy, with steroid therapy being intensified during the last month. The therapy increased the visual acuity by decreasing corneal oedema and by forming a more regular air-tear interface during the six months follow up. Subsequently, the disease progressed despite the continuation of the therapy. Conclusion: This is the first report of Serbian patients with KID syndrome. Despite the administration of the combined topical corticosteroid and artificial tears therapy the disease is relentlessly progressive and therapeutic success of ophthalmological signs with local therapeutic modalities used so far had been disappointing.

NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia.

Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide synthase 3 (NOS3), nitric oxide is considered to be one of the important mediators of oxidative stress in testis tissue. The aim of this study was to assess the possible association of three genetic variants (rs2070744, rs1799983 and intron variant 4a/4b) in NOS3 gene and infertility occurrence in two groups of infertile men (idiopathic azoospermia and oligoasthenozoospermia) and fertile controls. Genotypes for the single-nucleotide genetic variants rs1799983 and rs2070744 were determined by PCR-RFLP, while genotyping of intron 4 variant 4a/4b was performed by gel electrophoresis of PCR products. Statistical analysis was performed by SNPStats software. No significant association between the three genetic variants of the NOS3 gene and infertility risk was determined comparing allele and genotype frequencies among group of patients diagnosed with azoospermia and the control group. Nevertheless, there was a significant positive association between 4a/4b and infertility in the group of males diagnosed with oligoasthenozoospermia, under overdominant genetic model. Our findings suggest that tandem repeat variant within intron 4 of the NOS3 gene is associated with an increased risk of infertility in men diagnosed with idiopathic oligoasthenozoospermia.

Predictive value of [-2]propsa (p2psa) and its derivatives for the prostate cancer detection in the 2. 0 to 10. 0ng/mL PSA range

ABSTRACT Introduction To assess predictive value of new tumor markers, precursor of prostate specific antigen (p2PSA) and its derivates-%p2PSA and prostate health index (PHI) in detection of patients with indolent and aggressive prostate cancer (PC) in a subcohort of man whose total PSA ranged from 2 to 10ng/mL. Materials and Methods This cross-sectional study included 129 consecutive male patients aged over 50 years, with no previous history of PC and with normal digital rectal examination findings, but with serum PSA in interval between 2 and 10ng/mL. All patients underwent standard transrectal ultrasonography guided prostate biopsy for the first time. For all patients, serum PSA, free PSA (fPSA) and p2PSA were measured and PHI and %p2PSA were calculated. Results PHI and %p2PSA levels were significanlty higher in patients with PC compared to those without this malignancy. The same findings have been observed in group of patients with Gleason score ≥7 compared to those with Gleason score <7. ROC analysis reveled the highest area under the curve with these two markers. Multivariate logistic regression showed significant improvement in PC detection and its agressive form (assumed as Gleason score ≥7). Conclusions New markers, derivates of p2PSA (especially %p2PSA and PHI), represente potentially very important clinical tool for predicting presence of PC, and even more important, to discriminate patients with Gleason score <7 from those with Gleason score ≥7 with total PSA in range from 2 to 10ng/mL.

Predictive value of [-2]propsa (p2psa) and its derivatives for the prostate cancer detection in the 2.0 to 10.0ng/mL PSA range.

INTRODUCTION: To assess predictive value of new tumor markers, precursor of prostate specific antigen (p2PSA) and its derivates-%p2PSA and prostate health index (PHI) in detection of patients with indolent and aggressive prostate cancer (PC) in a subcohort of man whose total PSA ranged from 2 to 10ng/mL. MATERIALS AND METHODS: This cross-sectional study included 129 consecutive male patients aged over 50 years, with no previous history of PC and with normal digital rectal examination findings, but with serum PSA in interval between 2 and 10ng/mL. All patients underwent standard transrectal ultrasonography guided prostate biopsy for the first time. For all patients, serum PSA, free PSA (fPSA) and p2PSA were measured and PHI and %p2PSA were calculated. RESULTS: PHI and %p2PSA levels were significanlty higher in patients with PC compared to those without this malignancy. The same findings have been observed in group of patients with Gleason score ≥7 compared to those with Gleason score <7. ROC analysis reveled the highest area under the curve with these two markers. Multivariate logistic regression showed significant improvement in PC detection and its agressive form (assumed as Gleason score ≥7). CONCLUSIONS: New markers, derivates of p2PSA (especially %p2PSA and PHI), represente potentially very important clinical tool for predicting presence of PC, and even more important, to discriminate patients with Gleason score <7 from those with Gleason score ≥7 with total PSA in range from 2 to 10ng/mL.

[The effects of cycloplegic eyedrops on corneal tomography]. / Effets des gouttes cycloplégiques sur la tomographie cornéenne.

PURPOSE: Whether cycloplegics affect standard keratorefractometric and tomographic measurements is unknown. The purpose of our study was to compare the effects of cycloplegics (cyclopentolate and atropine) on corneal shape and refractive power of the eye. METHODS: This study was performed on 84 eyes of 49 study participants. Patients were randomized into two groups: atropine 1% (32 eyes) and cyclopentolate 1% (52 eyes). Corneal tomography was performed with the Orbscan IIz. To evaluate the corneal shape, simulated keratometry values, anterior and posterior best-fit sphere, white-to-white and tangential and axial corneal power were performed for the anterior and posterior corneal surfaces before and during cycloplegia. Pupil diameter, anterior chamber depth, corneal thickness at the 3, 5 and 7mm optical zones, thinnest area of the cornea and corneal thickness at the visual axis were examined. Data were analyzed using an SPSS statistical package. RESULTS: The anterior and posterior BFS (in the atropine 1% group, anterior BFS was P=0.188; anterior BFS in the cyclopentolate group was P=0.227) and tangential and axial corneal power showed no change during cycloplegia in either group. SimK showed no statistical significance. The ACD was deeper when using atropine than cyclopentolate. Corneal thickness remained unchanged during cycloplegia in both groups. Pupil diameter was larger in light-colored irides in the cyclopentolate group than the atropine group. There was no change in W to W before (P=0.473) and during cycloplegia (P=0.287) in either group. CONCLUSIONS: Our results suggest that usage of atropine or cyclopentolate does not alter corneal shape.

Erectile dysfunction as a predictor of advanced vascular age.

Vascular age (VA) represents chronological age (CA) adjusted for individual's atherosclerotic burden. The presence of erectile dysfunction (ED) has been considered as a clinical sentinel of premature atherosclerosis. The objective of this study was to explore the predictive value of ED in assessing the discrepancy between VA and CA. In the period from 1 January 2014 to 1 January 2015, all consecutive men referring to the outpatient departments of the Clinics of Urology and Cardiology in Belgrade (Serbia) were considered for enrolment in this cross-sectional study. General exclusion criteria were: age below 18, heart failure, history of myocardial infarction, impaired renal and liver function, acute infection, history of endocrine disease other than type 2 diabetes, pelvic surgery or trauma, and acute coronary syndrome within the last 6 months. According to the presence of ED, hypertension, type 2 diabetes and history of coronary artery disease participants were assigned into five study groups. Hierarchical multiple regression analysis was conducted to identify the predictive value of ED in detection of advanced VA. The mean age of males enrolled in the study was 52.9 ± 7.7 years. The predominance of VA over CA was statistically significantly higher in the group of participants with coexistence of ED and hypertension compared to the group of patients with ED and type 2 diabetes (p = 0.027) and the group of patients with ED (p = 0.014) and control group (p < 0.01). Regression analysis highlighted that ED represented a highly important marker (p < 0.01) of advanced VA, which independently accounted for 6.1% of the variance in the discrepancy between VA and CA. Our study suggests that assessment of ED could be a part of a more comprehensive prediction of patients' advanced VA. Screening among such a highly selected population may help identify those that would most benefit from drug treatments and life style changes.

[Surgical or conservative treatment of penile fracture].

INTRODUCTION: Penile fracture presents with rupture of corpora cavernosa. It is not rare but is remarkable. Treatment options are controversial. AIM: To establish the incidence, what are early and late complications in patients treated surgically or with conservative treatment options (prospective/retrospective and randomized analysis). To find out what therapy verified as superior. MATERIAL AND METHOD: The total of 32 patients with typical acute penile fracture were analyzed. The patients were between 20 and 56 years of age (Mean age 40+/-7.25 SD). A total of 11 patients that presented up to 48h after the rupture of tunica albuginea (34.37%) were operated, while 9 patients (28.13%) were conservatively treated. 12 patients (37.5%) reported to andrology consulting room due to penile fibrous alterations and/or erectile dysfunction 6 to 14 months after the anamnesticaly established, typical penile fracture ("primary latent penile fracture"). Both groups of patients were strictly clinically followed 3, 6, 9 and 12 months after the penile fracture. Eventual development of late complications (erectile dysfunction ED, penile curvature, induratio, caverno-urethral fistula and urethral stenosis) was also recorded. Etiology of ED was investigated: anamnesticaly, by hormone and laboratory analysis, using penodynamic test (PGE1), Duplex Doppler echosonography, and dynamic cavernosography. RESULTS: In the operated group of patients, (11 pts, 34.37%) preserved erectile capacity was recorded and no penile deformity or plaque lesions on the site of suture, after the patients were recommended to have 4 weeks of sexual abstinence. The rupture of tunica albuginea was always transversal in relation to penile axis i.e. in relation to axial force against which the penis acts during the intercourse. The rupture is always on the basis or mid penile portion . Out of 21 (65.63%) conservatively treated patients in 13 (61.9%) plaque lesions (longitudinal diameter 2 cm) was recorded, while sexual dysfunction was established in 13 patients (12 with ED and 1 patient with incapability for vaginal penetration). Evaluation of post therapeutical complications in relation to type of treatment, significantly higher frequency was recorded in the group of conservatively treated patients (p<0.01). Penile veno-oclusive dysfunction was registrated as significantly most frequent cause of ED (in 10-76.92% out of 13 patients). All patients with ED had palpable fibrous lesion similar to Peyrone's plaque, while the degree of penile deviation correlated to the size of plaque lesion. CONCLUSION: The late complications of penile fracture were significantly more frequently recorded in the group of conservative treated patients (p<0.01) which proves that this lesion presents as urgent urological entity. The penile rupture is always transversal, and most probable place of rupture is physiological penile curve since this is the site of weakened structural integrity.

Longitudinal study of psychiatric symptoms, disability, mortality, and emigration among Bosnian refugees.

CONTEXT: Evidence is emerging that psychiatric disorders are common in populations affected by mass violence. Previously, we found associations among depression, posttraumatic stress disorder (PTSD), and disability in a Bosnian refugee cohort. OBJECTIVE: To investigate whether previously observed associations continue over time and are associated with mortality emigration to another region. DESIGN, SETTING, AND PARTICIPANTS: Three-year follow-up study conducted in 1999 among 534 adult Bosnian refugees originally living in a refugee camp in Croatia. At follow-up, 376 (70.4%) remained living in the region, 39 (7.3%) were deceased, 114 (21.3%) had emigrated, and 5 (1%) were lost to follow-up. Those still living in the region and the families of the deceased were reinterviewed (77.7% of the original participants). MAIN OUTCOME MEASURES: Depression and PTSD diagnoses, based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria and measured by the Hopkins Symptom Checklist-25 and the Harvard Trauma Questionnaire, respectively; disability, measured by the Medical Outcomes Study Short-Form 20; and cause of death, determined by family interviews with review of death certificates, if available. RESULTS: In 1999, 45% of the original respondents who met the DSM-IV criteria for depression, PTSD, or both continued to have these disorders and 16% of respondents who were asymptomatic in 1996 developed 1 or both disorders. Forty-six percent of those who initially met disability criteria remained disabled. Log-linear analysis revealed that disability and psychiatric disorder were related at both times. Male sex, isolation from family, and older age were associated with increased mortality after adjusting for demographic characteristics, trauma history, and health status (for male sex, adjusted odds ratio [OR], 2.63; 95% confidence interval [CI], 1.17-5.92; living alone, OR, 2.40; 95% CI, 1.07-5.38; and each 10-year increase in age, OR, 1.91; 95% CI, 1.34-2.71). Depression was associated with higher mortality in unadjusted analysis but was not after statistical adjustment (unadjusted OR, 3.12; 95% CI, 1.55-6.26; adjusted OR, 1.85; 95% CI, 0.82-4.16). Posttraumatic stress disorder was not associated with mortality or emigration. Spending less than 12 months in the refugee camp (OR, 11.30; 95% CI, 6.55-19.50), experiencing 6 or more trauma events (OR, 3.34; 95% CI, 1.89-5.91), having higher education (OR, 1.90; 95% CI, 1.10-3.29), and not having an observed handicap (OR, 0.11; 95% CI, 0.02-0.52) were associated with higher likelihood of emigration. Depression was not associated with emigration status. CONCLUSIONS: Former Bosnian refugees who remained living in the region continued to exhibit psychiatric disorder and disability 3 years after initial assessment. Social isolation, male sex, and older age were associated with mortality. Healthier, better educated refugees were more likely to emigrate. Further research is necessary to understand the associations among depression, emigration status, and mortality over time.

[Dynamic aggregation of thrombocytes in acute myocardial infarct]. / Dinamika agregacije trombocita u akutnom infarktu miokarda.

The dynamics of circulating platelet aggregates (CPA) in acute myocardial infarction (MI) was correlated to its extent, localization and clinical outcome. Creatine kinase (CK) and CPA were measured in 30 patients with acute MI 24 hours after its onset, and on the third, fifth and eighth day following the accident. Twelve patients had anteroseptal MI, another 12 had inferior, and the remaining 6 had non-Q wave MI. 24 hours after the accident CPA values differed significantly between the three groups (p < 0.05). The values of CPA increased with increasing CK. In all the patients CPA and CK returned to normal or almost normal values on days 8 and 5 following MI, respectively. Eleven patients (37%) had heart failure: 8 of them (73%) had anteroseptal MI and 3 had inferior MI (27%). In 10 patients with heart failure (91%) and only in 2 out of 19 patients without heart failure (10.5%), CPA peaked on days 3 or 5 after MI (p < 0.05). In all other patients CPA declined steadily from the initial value. These results suggest that platelet aggregability is significantly associated with the severity of MI and with heart failure.

[Risk factors for the onset of ventricular tachycardia in patients with mitral valve prolapse]. / Cimbenici rizika za nastanak ventrikulske tahikardije u pacijenata s prolapsom mitralne valvule.

Non-invasive diagnostic methods (history, ECG, phonocardiography, exercise testing, Holter monitoring and Doppler echocardiography) were done in 48 persons with mitral valve prolapse (MVP). The aim was to establish possible risk factors for occurrence of ventricular tachycardia (VT) in persons with MVP and to find a possible difference between these risk factors. The possible risk factors for VT are: syncope, negative T wave in the inferolateral ECG leads, longer duration of QT interval, ST devalvation and duration of the ST devalvation, reduction of oxygen consumption evaluated by exercise testing, left ventricular function impairment, polymorphic premature ventricular contractions (PVC's), paired PVC's, larger dimensions of left cardiac chambers, larger surface and thickness of anterior mitral leaflet, extent of mitral regurgitation and higher mitral valve prolapse score. In patients with sustained VT we found higher age, more frequent syncopal attacks, longer QTc interval, more frequent negative T wave in inferolateral ECG leads, deeper ST devalvations, lower oxygen consumption, more prominent left ventricular function impairment, more frequent polimorphic PVC's (more than 10/1000 ventricular complexes), paired PVC's and thicker anterior mitral leaflet than in patients with non-sustained VT. (For all these risk factors is p < 0.01). Non-invasive diagnostic methods could help to identify the patients with mitral valve prolapse at elevated risk for VT.

[Hodgkin's lymphoma in children--histopathological and clinical features a 10-year experience (1978-1987)]. / Hockinov (Hodgkin) limfom kod dece--histopatoloske i klinicke karakteristike. Analiza za desetogodisnji period (1978-1987).

Hodgkin's lymphoma (HL) is a common neoplasm in children. In a 10-year period HL was found in 41% of all malignant lymphomas. Clinical and morphological features of 22 cases of HL are presented. HL was clinically manifested as an painless unilateral cervical lymphadenopathy. Males were slightly more affected, and the majority of the patients were from 5 to 15 years old. The most frequent histological types of HL were nodular sclerosis (45%) and mixed cellularity (40%). Although modern chemotherapy altered prognosis of HL and contributed to a favourable outcome of the disease in children, 36% of our patients died.