Variability and heritability of milk traits of holstein - frisian bull dams and their progeny

The research was performed on Holstein-Friesian and Black and White bull dams reared on five farms of Agricultural Corporation of Belgrade - PKB. The study included 575 lactations of cows selected as bull dams and their progeny calved in the period from 2007 - 2014 and represent progeny of 24 bulls. The following dairy traits were analysed in a standard lactation (305 days): milk yield (kg) - MY, milk fat content (%) - % MF, milk fat yield (kg) - MFY, protein content (%) - % PC and protein yield (kg) - PY. Holstein-Friesian bull dams and their progeny, in standard lactation, produced on average 9239.84 +/- 1607.64 kg of milk, with a milk fat content of 3.44 +/- 0.20 and protein content of 3.21 +/- 0.12. The impact of bull - sire, year of birth, lactation order, farm, year and calving season was present at different levels of statistical significance on yield traits, while the genetic group had no influence on any of the milk traits. Bull sire, year of birth, lactation order and calving season did not influence the variability of milk fat and protein content. Heritability of observed milk traits was medium to low. The content of milk fat and protein had the lowest values of heritability, 0.014, and 0.024, respectively. The heritability of milk yield, milk fat yield and protein yield was 0.293, 0.319 and 0.273, respectively

Small bowel adenocarcinoma mimicking a large adrenal tumor

Introduction. Adenocarcinoma of the small bowel is a rare gastrointestinal neoplasm usually affecting the distal duodenum and proximal jejunum. Because of their rarity and poorly defined abdominal symptoms, a correct diagnosis is often delayed. Case Outline. We present a 43-year-old woman admitted at the Clinic for Endocrinology due to a large tumor (over 7 cm) of the left adrenal gland. The tumor was detected by ultrasound and confirmed by CT scan. The patient complained of abdominal pain in the left upper quadrant, fatigue and septic fever. Normal urinary catecholamines excluded pheochromocytoma. The endocrine evaluations revealed laboratory signs of subclinical hypercorticism: midnight cortisol 235 nmol/L, post 1 mg - overnight Dexamethasone suppression test for cortisol 95.5 nmol/L and basal ACTH 4.2 pg/mL. Plasma rennin activity and aldosterone were within the normal range. Surgery was performed. Intraoperative findings showed signs of acute peritonitis and a small ulceration of the jejunum below at 70 cm on the anal side from the Treitz’s ligament. Adrenal glands were not enlarged. Patohistology and immunochemistry identified adenocarcinoma of the jejunum without infiltration of the lymphatic nodules. The extensive jejunal resection and lavage of the peritoneum were performed. Due to complications of massive peritonitis, the patient died seven days after surgery. Conclusion. Poorly defined symptoms and a low incidence make the diagnosis of small bowel carcinoma, particularly of the jejunal region, very difficult in spite of the new endoscopic techniques

Collagen type I alpha 1 gene polymorphism in premature ovarian failure

Introduction. Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis is one of the late complications of POF. Objective. To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) in women with POF. Methods. We determined the COLIA1 genotypes SS, Ss, ss in 66 women with POF. Single nucleotide polymorphism (G to T substitution) within the Sp 1-binding site in the first intron of the COLIA1 gene was assessed by polymerase chain reaction (PCR) followed by single-stranded conformation polymorphism (SSCP) analysis. Bone mineral density (BMD) was measured at the lumbar spine region by dual X-ray absorptiometry. Statistics: Kruskal-Wallis ANOVA, Chisquare test, Spearman correlation test. Results. The relative distribution of COLIA1 genotype alleles was SS - 54.4%, Ss - 41.0% and ss - 4.5%. No significant differences were found between genotype groups in body mass index, age, duration of amenorrhea or BMD. A significant positive correlation was observed between BMI and parity. Conclusion. The COLIA1 gene is just one of many genes influencing bone characteristics. It may act as a marker for differences in bone quantity and quality, bone fragility and accelerated bone loss in older women. However, in young women with POF, COLIA1 cannot identify those at higher risk for osteoporosis.Uvod. Prevremena insuficijencija jajnika (PIJ) se odlikuje amenorejom, hipergonadotropizmom i hipoestrogenijom kod žena mlađih od 40 godina. Osteoporoza je kasna komplikacija ovog stanja. Cilja rada. Cilj istraživanja je bio da se uporede genski polimorfizam kolagena tip I alfa 1 (COLIA1) sa gustinom koštane mase kod žena sa PIJ. Metode rada. Određivan je COLIA1 genotip SS, Ss i ss kod 66 žena sa PIJ pomoću eseja za reakciju lančanog umnožavanja DNK (engl. polymerase chain reaction - PCR). Polimorfizam jednog nukleotida (zamena G u T) u okviru Sp1 vezujućeg mesta u prvom intronu gena COLIA1 određivan je primenom PCR, nakon čega se pristupilo analizi konformacionog polimorfizma. Gustina koštane mase je merena na nivou lumbalnog dela kičme pomoću apsorpciometrije. Hormonske analize za folikulostimulišući hormon, luteinizirajući hormon, estradiol, prolaktin, progesteron i testosteron urađene su primenom metoda RIA. Pri statističkoj obradi podataka korišćeni su: Kraskal-Volisov (Kruskal-Wallis) ANOVA test, χ2-test i Spirmanov (Spearman) test korelacije. Rezultati. Relativna distribucija alela COLIA1 genotipa bila je: SS 54,4%, Ss 41,0% i ss 4,5%. Nije utvrđena značajna razlika između grupa prema genotipu za gustinu koštane mase, starost ispitanica, period amenoreje ili indeks telesne mase žena. Značajna pozitivna korelacija je uočena za indeks telesne mase i paritet. Zaključak. COLIA1 je samo jedan od mnogih gena koji utiču na karakteristike kosti. Kod žena starije životne dobi on može biti marker kvaliteta, kvantiteta i osetljivosti kosti. Kod mladih žena sa PIJ COLIA1 ne može da ukaže na one žene kod kojih postoji veći rizik za nastanak osteoporoze.Projekat ministarstva br. ON 17305

Genetic diversity of maize inbred lines as inferred from SSR markers

Creating new maize hybrids with greater yield potential is a permanent goal of breeding programs all over the world. Long-time existing and new problems related to different biotic and abiotic stresses and the growing needs of the world market require constant work on finding new ways for advancing maize production. Molecular marker technology is one of the fastest developing fields and its implementation has already given results in solving different problems related to maize breeding improvement. The aim of the study presented herein was characterization and genetic similarity assessment of twenty-nine maize inbred lines from Maize Research Institute collection using Simple Sequence Repeats (SSR) markers. The analysis was done using 20 pairs of SSR primers with clearly visible and reproducible results. A total of 119 alleles were detected with a mean of 5.8 per locus. PIC (Polymorphism Information Content) values were in the range from 0.45 to 0.92 (average 0.74). Genetic similarities calculated using Jaccard's coefficient ranged from 0.27 to 0.99. Cluster and Principal Component Analysis (PCA) analysis were done using matrices of similarity in the NTSYSpc software, version 2.1. Results of both classifications were moderately in agreement with the pedigree data of analysed genotypes. The information about genetic diversity of maize inbred lines revealed by SSR markers could be useful in planning strategies for future maize breeding programs

Functionality and Palatability of Yogurt Produced Using Beetroot Pomace Flour Granulated with Lactic Acid Bacteria

Following the idea of sustainability in food production, a yogurt premix based on beetroot (Beta vulgaris) pomace flour (BPF) was developed. BPF was granulated with lactose solution containing lactic acid bacteria (LAB) by a fluidized bed. Particle size increased ~30%. A decrease in Carr Index from 21.5 to 14.98 and Hausner ratio from 1.27 to 1.18 confirmed improved flowability of granulated BPF, whereas a decrease in water activity implied better storability. Yogurts were produced weekly from neat starters and granulated BPF (3% w/w) that were stored for up to one month (4 °C). High viability of Streptococcus thermophilus was observed. Less pronounced syneresis, higher inhibition of colon cancer cell viability (13.0–24.5%), and anti-Escherichia activity were ascribed to BPF yogurts or their supernatants (i.e., extracted whey). Acceptable palatability for humans and dogs was demonstrated. A survey revealed positive consumers’ attitudes toward the granulated BPF as a premix for yogurts amended to humans and dogs. For the first time, BPF granulated with LAB was used as a premix for a fermented beverage. An initial step in the conceptualization of a novel DIY (do it yourself) formula for obtaining a fresh yogurt fortified with natural dietary fiber and antioxidants has been accomplished

Collagen type I alpha 1 gene polymorphism in premature ovarian failure

Introduction. Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis is one of the late complications of POF. Objective. To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) in women with POF. Methods. We determined the COLIA1 genotypes SS, Ss, ss in 66 women with POF. Single nucleotide polymorphism (G to T substitution) within the Sp 1-binding site in the first intron of the COLIA1 gene was assessed by polymerase chain reaction (PCR) followed by single-stranded conformation polymorphism (SSCP) analysis. Bone mineral density (BMD) was measured at the lumbar spine region by dual X-ray absorptiometry. Statistics: Kruskal-Wallis ANOVA, Chisquare test, Spearman correlation test. Results. The relative distribution of COLIA1 genotype alleles was SS - 54.4%, Ss - 41.0% and ss - 4.5%. No significant differences were found between genotype groups in body mass index, age, duration of amenorrhea or BMD. A significant positive correlation was observed between BMI and parity. Conclusion. The COLIA1 gene is just one of many genes influencing bone characteristics. It may act as a marker for differences in bone quantity and quality, bone fragility and accelerated bone loss in older women. However, in young women with POF, COLIA1 cannot identify those at higher risk for osteoporosis.Uvod. Prevremena insuficijencija jajnika (PIJ) se odlikuje amenorejom, hipergonadotropizmom i hipoestrogenijom kod žena mlađih od 40 godina. Osteoporoza je kasna komplikacija ovog stanja. Cilja rada. Cilj istraživanja je bio da se uporede genski polimorfizam kolagena tip I alfa 1 (COLIA1) sa gustinom koštane mase kod žena sa PIJ. Metode rada. Određivan je COLIA1 genotip SS, Ss i ss kod 66 žena sa PIJ pomoću eseja za reakciju lančanog umnožavanja DNK (engl. polymerase chain reaction - PCR). Polimorfizam jednog nukleotida (zamena G u T) u okviru Sp1 vezujućeg mesta u prvom intronu gena COLIA1 određivan je primenom PCR, nakon čega se pristupilo analizi konformacionog polimorfizma. Gustina koštane mase je merena na nivou lumbalnog dela kičme pomoću apsorpciometrije. Hormonske analize za folikulostimulišući hormon, luteinizirajući hormon, estradiol, prolaktin, progesteron i testosteron urađene su primenom metoda RIA. Pri statističkoj obradi podataka korišćeni su: Kraskal-Volisov (Kruskal-Wallis) ANOVA test, χ2-test i Spirmanov (Spearman) test korelacije. Rezultati. Relativna distribucija alela COLIA1 genotipa bila je: SS 54,4%, Ss 41,0% i ss 4,5%. Nije utvrđena značajna razlika između grupa prema genotipu za gustinu koštane mase, starost ispitanica, period amenoreje ili indeks telesne mase žena. Značajna pozitivna korelacija je uočena za indeks telesne mase i paritet. Zaključak. COLIA1 je samo jedan od mnogih gena koji utiču na karakteristike kosti. Kod žena starije životne dobi on može biti marker kvaliteta, kvantiteta i osetljivosti kosti. Kod mladih žena sa PIJ COLIA1 ne može da ukaže na one žene kod kojih postoji veći rizik za nastanak osteoporoze.Projekat ministarstva br. ON 17305

Postmarketinška studija efikasnosti i bezbednosti primene losartana u lečenju bolesnika s umerenom i blagom arterijskom hipertenzijom - studija Lotnar

Introduction. Losartan, the angiotensin type 1 receptor blocker (ARB) exercises its main antihypertensive effect by vasodilatation of peripheral arteries. Objective. The aim of this study was to evaluate the antihypertensive effect and safety of losartan in patients with mild and moderate arterial hypertension (AH). Methods. This was an open post-marketing study with losartan as monotherapy in previously treated or untreated patients with AH. Primary efficacy parameter was the percentage of patients that achieved target blood pressure after 8-week treatment with a single daily dose of losartan of 50-100 mg. Safety parameters were assessed according to the percentage of adverse events and metabolic effects of therapy. Results. The study included 550 patients with AH (59% female and 41% male), mean age 56.8±11.4 years, BMI=27±4 kg/m2. Losartan was applied in 31% of untreated and 69% of previously treatment-resistant patients After 8 weeks target blood pressure was achieved in 67.8% (SBP) and in 81.1% (DBP) of patients, respectively. The mean decrease was 21.8% for SBP and 21.1% for DBP (p lt 0.001). Out of all, 65% of patients achieved both target SBP and DBP values. Hydrochlorothiazide was added to the therapy in 11.6% of patients. There were no significant differences in drug efficacy between the entire group and subgroups of patients with diabetes mellitus and impaired renal function (p=ns). Adverse events were rare and metabolic effect was favorable. Conclusion. Monotherapy with losartan in a dosage of 50-100 mg applied during 8 weeks resulted in achieving target values of blood pressure in 65% of patient with mild and moderate hypertension, also including the patients with diabetes mellitus and impaired renal function. Losartan is a safe and metabolically neutral medication.Uvod. Losartan, blokator angiotenzinskog receptora tip 1 (ARB), antihipertenzivni efekat ostvaruje vazodilatacijom perifernih arterija. Cilj rada. Cilj studije je bio da se procene efikasnost i bezbednost primene losartana kod bolesnika s arterijskom hipertenzijom blagog i umerenog stepena. Metode rada. U otvorenoj postmarketinškoj studiji losartan je primenjen kao monoterapija kod bolesnika s prethodno lečenom ili nelečenom umerenom i blagom hipertenzijom tokom osam nedelja u dozi od 50 mg i 100 mg jednom dnevno, uz posmatranje promene procenta bolesnika kod kojih su dostignute ciljne vrednosti sistolnog (SAP) i dijastolnog arterijskog krvnog pritiska (DAP). Bezbednost primene leka procenjena je prema procentu neželjenih dejstava i metaboličkim efektima terapije. Rezultati. U studiju je uključeno 550 bolesnika (59% žena i 41% muškaraca) prosečne starosti od 56,8±11,4 godine i prosečnog indeksa telesne mase (BMI) od 27±4 kg/m2. Losartan je primenjen kod 31% nelečenih i 69% prethodno lečenih bolesnika ali s neregulisanom hipertenzijom. Posle osam nedelja ciljne vrednosti SAP su postignute kod 67,8% bolesnika, a DAP kod 81,1% (i SAP i DAP kod 65% bolesnika), s prosečnim smanjenjem SAP od 21,8% i DAP od 21,1% (p lt 0,001). Hidrohlorotijazid je dodat terapiji kod samo 11,6% bolesnika. Terapijski efekti se nisu statistički značajno razlikovali između svih bolesnika i podgrupa ispitanika sa dijabetes melitusom (DM) i smanjenom funkcijom bubrega. Neželjena dejstva leka su bila retka, a metabolički efekat bio je povoljan. Zaključak. Monoterapija losartanom dovodi do postizanja ciljnih vrednosti krvnog pritiska kod 65% bolesnika sa blagom i umerenom hipertenzijom tokom osam nedelja primene, uključujući i bolesnike sa DM i sa smanjenom funkcijom bubrega. Losartan je siguran i metabolički neutralan lek

PB2037: NEW TERT VARIANT IN A FAMILY WITH APLASTIC ANEMIA

Background:TERT gene, the most frequently mutated gene in patients with telomere biology disorders (telomeropathies), encode telomerase reverse transcriptase enzyme. Heterozygous variants in the TERT gene impair telomerase activity by haploinsufficiency and pathogenic variants are associated with bone marrow failure syndrome and acute myeloid leukemia predisposition. TERT variants show incomplete penetrance and can also be found in asymptomatic family members. Some patients with telomeropathies present with severe symptoms at early age, and in other diseases may appear later in life like aplastic anemia, pulmonary or hepatic fibrosis. Affected families may show anticipation that may result in more severe forms of the disease in succeeding generations. Due to the rarity of the disease and the small number of clinical trials, telomeropathies are often unrecognized and misdiagnosed. Aims: To report a novel variant in TERT gene in familial hematopoietic disorder. Methods: Next Generation Sequencing of DNA isolated from peripheral blood of a patient (older sister) with clinical diagnosis of aplastic anemia, using TruSight One MiSeq platform (Illumina®) and segregation sequencing analysis of patient’s mother and younger sister. Results: We analyzed all three family members presented with a similar clinical appearance and hematology findings (moderate megaloblastic pancytopenia). Mother was diagnosed at age 14, but reevaluated before delivery in 2001 as hypoplastic MDS and trisomy 8 in karyotype with marked thrombocytopenia, being stable for years. Two daughters, both diagnosed as familiar aplastic anemia with normal karyotype, without elements of Fanconi anemia, at age of 13 and 14 yrs, also with profound thrombocytopenia without severe bleeding episodes. Moreover, lung and liver fibrosis were excluded. We identified a novel missense heterozygous variant c.2605G>A p.(Asp869Asn) in TERT gene in all three family members. This variant results in replacement of aspartic amino acid on 869 position in TERT enzyme polypeptide chain by asparagine. According to ACMG classification, detected variant is characterized as likely pathogenic, class 2. This variant is very rare and was detected in gnomAD exomes and gnomAD genomes data bases. It is located in highly conserved protein region and is very likely to disrupt the function of the enzyme. Summary/Conclusion: As patients with telomeropathies often have a history of macrocytosis and mild to moderate thrombocytopenia, that can be wrongly diagnosed as immune-mediated thrombocytopenia, myelodysplastic syndrome or moderate aplastic anemia, our findings indicate that TERT rare variants pass under-recognized in these patients. Therefore, this report emphasizes the importance for routine deep genetics screening for TERT rare variants in patients with family history of cytopenia, different bone marrow failure syndromes and aplastic anemia, regardless the age or clinical presentation. This investigation is able to identify clinically inapparent telomere biology disorder and improve outcomes through forehand diagnosis setting, genetic counseling and the precise therapy considerations especially stem cell grafting

Alport's syndrome and benign familial haematuria: light and electron microscopic studies of the kidney

INTRODUCTION Hereditary nephropathy is clinically characterized by the familial occurrence in successive generations of progressive haematuric nephritis and neural hearing loss. Hereditary nephropathy of Alport's syndrome (AS) and benign familial (recurrent) haematuria (BFH) are morphologically characterized by specific and diagnostically important thickening and splitting of lamina densa of the glomerular basement membranes. Those lesions can be recognized only by electron microscopy. Hereditary nephritis is usually present clinically with haematuria, and new mutations without a family history of haematuria. It is therefore important to differentiate hereditary nephritis from BFH and no familial haematuria. Thus, electron microscopy is essential in diagnosis of haematuria. OBJECTIVE The aim of this study was to describe, by light microscopy, constellation of renal alterations by which hereditary nephropathy can be recognized with high probability as well as to compare the diagnostic validity of the findings observed by light and electron microscopy in AS and BFH. METHOD We examined 48 renal biopsies of the patients with hereditary nephoropathies by light and electron microscopy. Tissue samples were fixed in buffered paraformaldehyde and embedded in paraffin for long-term preservation. For the electron microscopy analysis, the following fixation in 4% glutaraldehyde tissue was postfixed in 1% osmium tetroxide.Thereafter, the following dehydration procedure tissue slices were embedded in epon. RESULTS Our results demonstrated that the interstitial foam cells, foetal-like glomeruli, minimal glomerular abnormalities with stain less intense in basement membranes, mild irregular mesangial widening, focal thickening of Bowman's capsule, foci of dilatation tubules, tubular ectasia and atrophy, erythrocyte tubules casts were present in hereditary nephritis. Additionally, light microscopic biopsy findings in patients with BFH were either normal or revealed minor changes (e.g. increased mesangial matrix). All biopsies were reevaluated by electron microscopy and ultrastructural findings confirmed the diagnosis of hereditary nephropathies. CONCLUSION The findings observed by light microscopy represent an important step that leads to a definitive diagnosis of AS and BFH. The definitive diagnosis, however, depends on electron microscopy

Finger Length Ratios in Serbian Transsexuals

Atypical prenatal hormone exposure could be a factor in the development of transsexualism. There is evidence that the 2nd and 4th digit ratio (2D : 4D) associates negatively with prenatal testosterone and positively with estrogens. The aim was to assess the difference in 2D : 4D between female to male transsexuals (FMT) and male to female transsexuals (MFT) and controls. We examined 42 MFT, 38 FMT, and 45 control males and 48 control females. Precise measurements were made by X-rays at the ventral surface of both hands from the basal crease of the digit to the tip using vernier calliper. Control male and female patients had larger 2D : 4D of the right hand when compared to the left hand. Control male’s left hand ratio was lower than in control female’s left hand. There was no difference in 2D : 4D between MFT and control males. MFT showed similar 2D : 4D of the right hand with control women indicating possible influencing factor in embryogenesis and consequently finger length changes. FMT showed the lowest 2D : 4D of the left hand when compared to the control males and females. Results of our study go in favour of the biological aetiology of transsexualism