RESUMEN
Background: factor XIII Deficiency [FXIIID] is an inherited rare bleeding disorder with some life threatening clinical manifestation including Intracranial Haemorrhage [ICH]. Among all polymorphisms found in FXIIID, Thrombin Activatable Fibrinolysis Inhibitor [TAFI] Thr325Ile gene polymorphism increases probability of ICH about 20 fold in patients with FXIII .So, in this study we aimed to evaluate TAFI Thr 325 Ile polymorphism in Chorionic villus samples [CVS] of fetuses with positive family history of FXIIID and ICH
Materials and Methods: this study was performed on chorionic villus of pregnant mothers ´ with positive history of FXIIID accompanied with ICH in first-degree relatives of their fetus. All parents of the fetuses were completed consent form for doing Prenatal diagnosis [PND]. Chorionic villus DNA was extracted from each sample using the DNA extraction kit and PCR-RFLP was performed for TAFI Thr 325Ile polymorphism in Exon 4 of FXIII A gene
Results: all of 8 fetuses had positive family history of FXIIID. Seven out of eight fetuses [87.5%] had a family member with CNS bleeding due to FXIIID. Four fetuses had history of death due to FXIIID. There were 5 case [62.5%] that were homozygote for TAFI Thr 325 Ile, one [12.5%] was heterozygote and two [25%] were non mutant
Conclusion: detection of TAFI Thr 325 Ile polymorphism by PND program in fetuses with positive family history of ICH is seems necessary and it will help to fill many gaps in preventing life threatening features of FXIIID in newborn at the time of delivery by prophilaxy receiving and precautionary measures
RESUMEN
Background and Aims: it is believed that uremia causes destruction of white blood cells [WBC] leading to leukopenia. This study attempted to assess the exact effect of uremia on WBC count
Materials and Methods: this case-control study was conducted on 120 uremic patients and 100 non-uremic control subjects. All cases were examined for determination of urea and creatinine in their serum; complete blood counts were also determined
Results and Conclusion: in healthy male individuals, the mean values of serum urea and creatinine were 14.5+/-1.9 and 0.9+/-0.2 mg/dL, respectively. In females the serum urea concentration was the same as males, but mean serum creatinine was 0.66+/-3.2 mg/dL. In the patients group, the mean concentration of serum urea for both sexes was 83+/-2.4 mg/dL. The mean values of creatinine in male and female patients were 2.4+/-1.3 mg/dL and 2.1+/-1.7 mg/dL, respectively. The mean total leukocyte counts in case and control groups were 6.08+/- 2.24 and 6.17+/- 2.43 ×10[9]/L, respectively [p=0.71]. Our results indicate that uremia cannot change leukocyte count