Acute immune trobocytopenic purpura in pregnant adolescent.

OBJECTIVE: The article reviews the causes of thrombocytopenia in pregnancy and the basic examination scheme. Further, it deals in more details with diagnosis of immune thromocytopenic purpura (ITP) and presents a case report of a rare case of acute severe ITP in pregnant adolescent. DESIGN: Review article and case report. SETTINGS: Department Obstet/Gynecol Uni J. A. Purkyně and Masaryk´s Hospital, Ústí nad Labem; Children and adolescent dep. Hospital Most; Institute of Hematology and Blood Transfusion Prague; Department of Children Med. Uni J. A. Purkyně and Masaryk´s Hospital, Ústí nad Labem; Department of Clinic Hematology Masaryk´s Hospital, Ústí nad Labem; Department of Neonatology Uni J. A. Purkyně and Masaryk´s Hospital, Ústí nad Labem. METHODS: Based on a review of the published papers, general rules for diagnosis, treatment, fetal risks, pregnancy management and labor in women with immune thrombocytopenic purpura (ITP) are given. Further we present the case of a 16-year-old pregnant girl with an acute severe form of ITP not responding to corticosteroid treatment who underwent twice critical decline of platelets up to 1×109 and repeatedly it was necessary to access the application of IVIG and Azathioprim (Imuran) was also used in her treatment. Pregnancy was unplanned terminated for dg. placental abortion in gestational age 32+4.The girl of 1740 g/42 cm was born with Apgar score 10-10-10 with no signs of thrombocytopenia. Surgery and postoperative course in the mother without complications. The newborn was discharged from the hospital into home care at a gestational age of 36+1 along with his mother. RESULTS: We present a case of acute severe form of ITP in pregnancy with a successful though somewhat dramatic end. CONCLUSIONS: These rare cases are demanding in terms of logistical, personnel and material provision. The aim of the treatment is to achieve a satisfactory maturity of the fetus, the treatment is financially demanding and is not without risks. Therefore, these cases should only be dealt with at Perinatology Centers in close cooperation with hematologists and neonatologists.

Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: report of two cases of Creutzfeldt-Jakob disease.

The definitive diagnosis of the CJD (Creutzfeldt-Jakob disease; very rare neurodegenerative disorder) can be established only on the basis of post-mortem examination of the central nervous system tissue. Formaldehyde-fixed paraffin-embedded (FFPE) tissue samples may thus constitute the only material available for molecular pathology analyses. We performed post-mortem analysis of the coding region of the prion-protein gene (PRNP)-sequence variations in two definite CJD cases suggestive of genetic form. Only FFPE tissues were available for molecular analyses. The PRNP gene open reading frame was amplified from the genomic DNA (FFPE isolated) in four overlapping, two round semi-nested PCR products that were directly sequenced. We found known pathogenic sequence variation g.532 G>A (Asp178Asn) in patient 1 but we did not find any pathogenic sequence variation in patient 2 despite her origin from the Slovak Orava region. Based on these results, we were able to discriminate between genetic and sporadic form of CJD in patient 1 and 2, respectively. The established method was found to be efficient for the sequence-variation analysis of the entire PRNP gene coding region using the genomic DNA isolated from the FFPE tissues; it can be employed in other retrospective molecular studies.

Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries).

Deletion pattern analysis of the dystrophin gene was performed in 115 unrelated Czech patients with Duchenne and Becker muscular dystrophy. In 50 patients (43.5% of the analysed patients) exon deletions were detected by routinely performed multiplex PCR for 18 selected exons and for the area of musclespecific promoter of the dystrophin gene. All startpoints and endpoints of deletions (100 breakpoints) were detected using PCRs for another 29 exon areas of the dystrophin gene (altogether primers for 47 different exons were used). Most of the breakpoints were found in introns 44 (16% of breakpoints), 47 (14%) and 50 (8%). The comparison of distributions of breakpoints in the area of the main hot spot of the dystrophin gene (introns 43-52) was made (chi 2 test in a contingency table) in six different populations from the Czech Republic, Bulgaria, Hungary, Italy, Turkey and India. In compared populations, statistically significant differences were found by the pooled test. No significant difference between the Czech population and other studied populations was found by pair comparisons. On the other hand, pair comparisons revealed significant differences between populations from Bulgaria and Hungary, Bulgaria and Turkey, Hungary and Italy. The results of the presented study support the theory suggested by other authors that specific differences in intron sequences of the dystrophin gene can exist between different populations, possibly as a result of a genetic drift.