Photochemical treatment is one of the pathogen inactivation method to treat plasma, part of a proactive approach used for blood and blood component safety. Three photochemical treatments that have been used were methylene blue, riboflavin and psoralen treatment. This study was done on Fresh Frozen Plasma (FFP) to evaluate the treatment effects of psoralen, methylene blue and riboflavin on coagulation factors level. Methods: FFP was collected from apheresis plasma units and kept at 22oC to 24oC. A sum of 90 apheresis plasma units and segments were used, separated from each bag and a part used as controls, placed in a -30oC freezer for storage, thawed, and coagulation proteins function was evaluated before and after treatment, at immediate, 30 days and 270 days storage. Results: Significant differences in fibrinogen and coagulation factor levels between before and after treatment with methylene blue, psoralen and riboflavin. However, most of the mean values in treated plasma were within reference ranges. Methylene blue treated FFP showed the lowest changes in fibrinogen and other coagulation factors level whilst riboflavin treated FFP demonstrated the highest changes in coagulation proteins concentrations especially for fibrinogen, FV, FVIII, FIX and FXII. However, FXIII showed the best recovery for all three photochemical methods with reduction level of 3% to 8% compared to pre-treatment. Storage time comparison of immediate, 30 days and 270 days was inconclusive. Conclusion: The coagulation proteins in psoralen treated FFP and MB-FFP were adequately preserved, where MB-FFP showed better preservation than other two photochemical treatments.
A 31-year-old lady with normal physical characteristics was found to have persistent high FSH and LH and was suspected possible premature ovarian failure after reported to have not normal menstrual cycle. Leucocytes were collected from patient’s fresh peripheral blood sample and Giemsa banding (G-banding) was done. All metaphases were captured and analysed using Cytovision software 4.5 and the final analysis show 47,XXX.
Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syn- drome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifesta- tions. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.
Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality.