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Lozić,B.; Ljubković,J.; Pandurić,D. Gabrić; Saltvig,I.; Kutsche,K.; Krželj,V.; Zemunik,T.. |
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: OFCD syndrome; BCOR gene; Talon cusp; Intrafamilial phenotypic variability. |
Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030 |
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Torlak,V.; Zemunik,T.; Modun,D.; Capkun,V.; Pesutic-Pisac,V.; Markotic,A.; Pavela-Vrancic,M.; Stanicic,A.. |
Therapeutic doses of 131I administered to thyrotoxic patients may cause thyroid failure. The present study used a rat model to determine thyroid function after the administration of different doses of 131I (64-277 µCi). Thirty male Fisher rats in the experimental group and 30 in the control group (untreated) were followed for 6 months. The animals were 4 months old at the beginning of the experiment and were sacrificed at an age of 9 months. Hormone concentration was determined before 131I administration (4-month-old animals) and three times following 131I administration, when the animals were 7, 8, and 9 months old. The thyroid glands were removed and weighed, their volume was determined and histopathological examination was performed at the end of the... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Thyroid gland; 131I; Hormones; Histopathology; T3; T4; TSH. |
Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000800009 |
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Zemunik,T.; Peruzovic,M.; Capkun,V.; Milkovic,K.. |
The aim of this study was to test the hypothesis that, during adulthood, the offspring of adolescent rats differ in emotionality, learning and memory from the offspring of adult rats. The behavior of the offspring of adolescent (age, 50-55 days) and adult rats (age, 90-95 days) was tested in the open field, activity cage, and passive and active avoidance apparatus. The latencies during training and testing in the passive avoidance apparatus of the offspring of adolescent parents were shorter than the latencies of control offspring (P<0.001 on both training and testing days). Offspring of adolescent parents showed shorter latency time in acquisition trials during active avoidance testing compared to control offspring (P<0.001). They also showed a... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Adolescence; Pregnancy; Behavior; Learning and memory; Emotionality. |
Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000400008 |
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Zemunik,T.; Peruzovic,M.; Capkun,V.; Zekan,L.; Tomic,S.; Milkovic,K.. |
Ten Fisher rats 50 to 55 days of age made up the pubertal group, and ten rats 90 to 95 days of age served as the controls. The testicular and epididymal weights and volumes of the pubertal males were lower than those of the controls (P<0.001). There was also a difference in relative epididymal weight (P<0.001). The sperm of pubertal males was morphologically abnormal in 58.2% of cases, as opposed to only 3.8% in the controls (P<0.001). The mean number of spermatozoa in the control group was 11.9 × 10(6)/ml and their viability was 99.6%, while these values could not be determined for pubertal rats. Serum testosterone was higher in the pubertal animals than in the controls (2.52 ± 1.46 vs 0.92 ± 0.34 nM, P<0.01). The ovaries of control females... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Puberty; Reproduction; Gonads; Sex hormones; Pregnancy. |
Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000700007 |
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Kuzmanić Šamija,R.; Primorac,D.; Rešić,B.; Pavlov,V.; Čapkun,V.; Punda,H.; Lozić,B.; Zemunik,T.. |
The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Clinical contributors; Hypoxic-ischemic encephalopathy; NOS3 gene polymorphisms. |
Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000869 |
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Kurir,T.T.; Markotic,A.; Katalinic,V.; Bozanic,D.; Cikes,V.; Zemunik,T.; Modun,D.; Rincic,J.; Boraska,V.; Bota,B.; Salamunic,I.; Radic,S.. |
The aim of the present study was to assess the influence of hyperbaric oxygenation (HBO) on rat liver regeneration before and after partial hepatectomy. Rats were sacrificed 54 h after 15% hepatectomy, liver and body weights were measured, and serum alanine transaminase (ALT) and aspartate transaminase (AST) activity and albumin levels were determined. The lipid peroxide level, as indicated by malondialdehyde production in the remnant liver was measured, and liver sections were analyzed by light microscopy. Five groups of 10 rats in each group were studied. The preHBO and pre-hyperbaric pressure (preHB) groups were treated before partial hepatectomy with 100% O2 and 21% O2, respectively, at 202,650 pascals, daily for 3 days (45 min/day). The control group... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Partial hepatectomy; Hyperbaric oxygenation; Liver regeneration; Alanine transaminase; Aspartate transaminase. |
Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000800014 |
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