Intensive method of assessment and classification of the bone marrow iron status: A study of 80 patients.

Background: The increasing prevalence of multiple co-morbidities among anemic patients with chronic diseases have made the use of serum ferritin (which is also an acute phase reactant) and transferrin saturation more challenging in diagnosing iron deficiency. Microscopic examination of bone marrow aspirate is the gold standard" for assessing marrow iron store. However, conventional Gale's method assesses iron in marrow fragments alone which provides little valuable information about functional iron deficiency seen in many chronic diseases. Aim: To perform an intensive bone marrow iron grading by assessing iron in fragments, in macrophages around fragments and in erythroblasts and to correlate the marrow iron store results with serum ferritin. Materials and Methods: A descriptive study of Perl's Prussian blue stained bone marrow aspirate smears of 80 adult patients with moderate to severe anemia. Bone marrow iron was assessed by both the Gale's method and the intensive method and correlated with serum ferritin. Results: The intensive grading system revealed normal iron stores in 37.5% cases, depleted iron stores in 16.25% patients while 23.75% and 22.5% patients had functional iron deficiency and combined deficiency, respectively. Mean log ferritin concentration was significantly lower in patients with depleted iron stores (0.91 μg/l) in comparison to those with normal iron stores (2.13 μg/l; P = 0.001), functional iron deficiency (2.65 μg/l; P = 0.000), or combined deficiency (2.04 μg/l; P = 0.002). Conclusion: Intense marrow iron examination provides a useful iron status classification which is of particular importance in cases of chronic diseases and inflammation.

Generalized epimerase deficiency galactosemia.

Galactosemia is caused by inherited deficiencies in one of three enzymes involved in the metabolism of galactose: galactose- 1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). The rarest and most poorly understood form of galactosemia is due to epimerase deficiency. We are reporting such a rarest form of galactosemia presenting with progressively increasing cholestatic jaundice and failure to thrive at one month of age. After confirmation of decreased epimerase level in RBC hemolysate, the patient was put on galactose restricted diet and vitamins supplementation, which reversed the clinical signs as well as altered liver function. Patient is on regular follow-up and now at 15 months of age he has no marked developmental delay.

Comparison of galE gene of Campylobacter jejuni strains associated Guillain-Barré syndrome / 中华微生物学和免疫学杂志

Objective To investigate the Camtrylobacterjejuni's risk factors which were associated with the development of Guillain-Barre syndrome( GBS), the galE gene of C. jejuni strains were sequenced and the sequencing results were compared with other C. jejuni strains. Methods Selecting three GBS-asso-ciated C.jejuni strains isolated from stools of GBS patients who had been diagnosed as AMAN pattern by clin-ical and electrophysiological test from Hebei province, China. After sequencing galE gene, the results were spliced and assembled into a complete sequence by the terminals overlapped each other. The sequences of galE gene were compared with the corresponding sequences in GenBank to find the mutation and constructed the phylogenetic tree. Results The variation frequency of galE sequences of GBS-associated C. jejuni were higher than that of non-GBS-associated C. jejuni. The phylogenetic analysis demonstrated that each of the three C. jejuni strains was separately genetically closed to three strains which sequences have published in GenBank. The alignment with the related sequence of NCTC11168 shows that there are 4 same mutations in the galE gene of the three C. jejuni strains. The phylogenic tree reflected the regional feature of C. jejuni. Conclusion The probability of sequence variation of galE of GBS-associated C.jejuni is significantly higher than non-GBS-associated C. jejuni strains, the relation between the variation and GBS-pathogenesis remains to be further confirmed. The mutations found in the three C. jejuni strains established the foundation for ex-ploring the biologically characteristic of GBS-associated C. jejuni strains.

Galactosemia Detected by Neonatal Screening Test

PURPOSE: The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program. METHODS: We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1 month after showing abnormalities in neonatal screening of galactosemia. For accurate diagnosis, galactose was measured by enzyme immunoassay(EIA) and fluorophotometer, also galactose-1-phosphate by fluorophotometer. Enzyme activities of GALK, GALT and GALE in RBC and galactose-1-phosphate were measured by radioisotope assay(RIA). Beutler test were done. Patients went on a lactose-free diet and follow-up tests for galactose, galactose-1-phosphate level and enzyme activity were performed. RESULTS: 10 patients(male : 6, female : 4) were diagnosed as galactosemia. Two patients had GALK deficiency and two had GALT deficiency. Six were GALE deficient showing the largest number. In two patients with GALK deficiency, GALT and GALE activities were normal but GALK activities showed respectively reduced activity. For GALT deficiency, two patients had low GALT activity in RBC and showed genotype of Duarte 2/G(galactosemia) in DNA analysis. In one patient, GALT activity was normal. Three patients seemed to be heterozygote state of GALE deficiency according to GALE activity levels. Four patients showed GALK hyperactivity. CONCLUSION: GALE deficiency provided the highest number. After lactose-free diet, galactose and galactose-1-phosphate were normaly maintained. Neonatal screening on galactosemia is essential for preventing life-threatening symptoms and an accurate diagnosis is needed for finding out the type of galactosemia which is important for prognosis.

Chemical modification of antigens on porcine red blood cells:the preliminary study on xenotransfusion / 中国输血杂志

Objective Recent findings indicate that the serological and biochemical characteristics of porcine erythrocytes share many similarities with human red blood cell (hRBC). Scientists believed that humanized porcine red blood cells (pRBC) could be used as one alternative source for human blood transfusion. Methods In order to eliminate ?Gal antigen and non-?Gal on the surface of pRBC, recombinant soybean ?-Galactosidase (rS?-GalE) constructed by our lab was used to remove terminal ?Gal residues from ?Gal antigen, and mPEG-BTC was used to camouflage non-?Gal xenoantigen on the surface of pRBC. Results The carbohydrate structures of ?Gal xenoantigen of pRBC treated with rS?-GalE were completely modified. The antigenic determinants of ?Gal and non-?Gal xenoantigen on the surface of pRBC were successfully camouflaged through mPEG-BTC modification. But this modification needed higher concentration of mPEG-BTC which could cause slight structure damage. Considering this, with combination of ?Gal xenoantigen conversion by rS?-GalE and chemical camouflage of non-?Gal xenoantigen with lower concentration of mPEG-BTC, the antigenic determinants of pRBC were attenuated and hemagglutination were diminished.Conclusion The morphology, structures, functions and deformability of pRBC modified with rS?-GalE, mPEG-BTC and rS?-GalE+ mPEG-BTC were normal.