[Show abstract][Hide abstract]ABSTRACT: strong>Objective To investigate the benefit of low-dose tertiary prophylaxis in adults with severe haemophilia A(SHA). Methods Twenty-two SHA patients aged 18 to 60 years from the Haemophilia Centre of Peking Union Medical College Hospital,Beijing,China,were retrospectively observed from their one year on-demand treatment to one year tertiary prophylaxis using plasma derived factor 8 concentrates at 5-10 IU/kg 2-3x per week. All the patients had already developed arthropathy. Gilbert and the functional independence scores in hemophilia were used to assess the joint status and the ability in the activities of daily living of the patients. Results Comparing with on-demand therapy,the annual bleeding frequency during low-dose tertiary prophylaxis decreased significantly by 72.7%,from 39.9±21.5 to 11.1±7.2 (P<0.0001),the total Gilbert score decreased from 50.5±32.1 to 45.2±29.6(P<0.05),and the total functional independence score in hemophilia score increased from 18.6±5.2 to 21.7±4.1 (P<0.05). Conclusion Low-dose tertiary prophylaxis in adults with SHA is beneficial by reducing bleeding frequency,improving the health status of joints,and improving the activities of daily living,thus raising the quality of life.
No preview · Article · Nov 2015 · Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
[Show abstract][Hide abstract]ABSTRACT: This study was aimed to explore the possible mechanisms of hepcidin increase in multiple myeloma patients. The clinical information and peripheral venous blood of eligible patients with previously untreated multiple myeloma were collected. Serum concentration of IL-6 was detected by ELISA. Peripheral blood monocytes were isolated by CD14(+) magnetic beads. The expression of hepcidin, IL-6 and C/EBPα mRNA of monocytes were detected by real time quantitative PCR. The results indicated that the hemoglobin level was reduced in 17 multiple myeloma patients enrolled in study (97.8 ± 27.5 g/L), showing the characteristics of anemia of chronic disease. The hepcidin and C/EBPα expression of peripheral blood monocytes significantly increased (P < 0.01), serum IL-6 was also higher than that in normal controls (P < 0.01). Serum IL-6 positively correlated with monocyte hepcidin and C/EBPα expression (P < 0.05); monocyte C/EBPα expression positively correlated with monocyte hepcidin expression (P < 0.05). It is concluded that the elevated IL-6 may induce hepcidin expression through up-regulating C/EBPα in untreated myeloma patients.
No preview · Article · Sep 2014 · Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology
[Show abstract][Hide abstract]ABSTRACT: To analyze the clinical characteristics and effects of rehabilitation treatment on hemophiliacs with illiopsoas hemorrage.
The hemophilia patients with illiopsoas bleeding treated in Peking Union Medical College Hospital between January 2006 to December 2010 were enrolled. The clinical characteristics including symptoms, signs, complications, and rehabilitation treatment were analyzed retrospectively.
All of the forty-one hemophiliacs with illiopsoas bleeding were male, 20 cases wee the left bleeding, 18 the right, and 3 the bilateral. The median median age was 18 (6 - 61) years old(y). The median age of the illiopsoas bleeding for the first time was 17 (6 - 20) y. 34 patients accompanied with femoral nerve injury, 19 of them had secondary knee bleeding on the same side. 20 patrents had quadriceps atrophy. Pelvic pseudotumor developed in 2 patients and permanent abnormal posture in 2 patients. The main finding of the ultrasound image was low-echo mass in illiopsoas muscles or inguinal region. 34 patients received rehabilitation therapy for 8 - 12 weeks under the support of factor replacement, complete hematomas absorption in 33 of them, with hip range of motion recovering back to baseline. 27 of 32 (84.4%) cases with femoral nerve injury got quadriceps strength above 4/5 grade, 20 cases of femoral nerve injury (62.5%) still had numbness on front of their thigh after treatment.
In this cohort of illiopsoase bleeding, most of the patients are adolescent. High prevalence of the femoral nerve injury and the secondary knee bleeding are found. Rehabilitation treatment under the support of factor replacement is safe and effective on hematoma absorption and neurological function recovery.
No preview · Article · May 2012 · Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
[Show abstract][Hide abstract]ABSTRACT: To explore the distribution and infuence factors of protein C (PC), protein S (PS) and antithombin (AT) activities and to determine the prevalence of their deficiencies in the Chinese Han healthy population.
Healthy volunteers including blood donors and individuals for routine check-up were recruited from 4 Chinese medical centers. The plasma levels of PC, PS and AT activities were measured. The plasma levels of activities were measured by chromogenic substrate assay (AT and PC) and clotting assay (PS).
A total of 3493 healthy Chinese adults had been recruited in this study. Males had higher PS and PC activities than females, especially for PS (P < 0.01). PC activities increased with age in both sexes but decreased in men after 50 years old. There was no significant change with age were of PS in 50 years old, while there was a decline in males and a rise in females above 50 years old. AT tended to increase with age in women but decreased with age in men after 50 years old. Based on the age and gender, the general prevalence of PC, PS and AT deficiencies in the general Chinese Han population were 1.15%, 1.49% and 2.29%, respectively.
PC, PS and AT activities have correlation with age and gender in Chinese Han poputation. Reference range should be laid down and deficiencies should be identified
No preview · Article · Feb 2012 · Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
[Show abstract][Hide abstract]ABSTRACT: This study was to evaluate the role of reticulated platelets (RP) assay in the distinguishing the different causes of thrombocytopenia. The RP and immature platelet fraction (IPF) were stained by a nucleic acid-specific dye oxazine, and assayed by XE-2100 blood cell counter with an upgraded software in the reticulocyte/optical platelet channel. RP and IPF were measured in 137 thrombocytopenic patients and 187 normal controls. The results showed that the mean IPF was 1.07% in normal controls, and 10.28% in 109 patients with immune thrombocytopenia (p<0.01), RP absolute value in ITP group was higher than that in control group, there was significant difference between them (p=0.036). The mean IPF was 10.47% in patients with primary immune thrombocytopenia (PITP), and 9.45% in patients with secondary ITP (SITP). There was no significant difference of IPF between PITP and SITP group (p=0.635), but IPF in these 2 groups both were significantly higher than the normal controls. The mean IPF in 28 thrombocytopenic patients with hypocellular marrow was 2.37%. There was no difference of IPF between thrombocytopenic patients with hypocellular marrow and the normal controls (p=0.252), but the absolute counts of RP in the former was significantly lower than in the latter (p<0.05). The IPF cut-off for a diagnosis of thrombocytopenia with hypercellular marrow was 2.45%, the sensitivity was 92.7% and specificity 94.1%. It is concluded that the whole-blood IPF measurement by XE-2100 blood cell counter is an useful screening test to differentiate patients with thrombocytopenia of different causes. An IPF above 2.45% has both a high sensitivity and specificity for a diagnosis of thrombocytopenia with a hypercellular marrow.
No preview · Article · Apr 2010 · Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology
[Show abstract][Hide abstract]ABSTRACT: Hemophilia A (HA) is an X-linked inherited bleeding disorder caused by decreased activity of factor VIII (FVIII) due to heterogenous mutations in the FVIII coding gene (F8). The type of mutation plays an important role in the FVIII inhibitor formation. To date, several studies on the spectra of F8 defects have been performed in Western populations, but similar studies in Asian races are scarce. Here, we reported the distribution of the F8 gene mutations in 18 unrelated Chinese patients with HA.
Intron 22 and intron 1 inversions in the F8 gene were screened in 158 unrelated patients with HA using a long-distance PCR and multiplex PCR method. Direct sequencing of the coding region of the F8 gene was used to identify the mutations responsible for HA in 18 unrelated Chinese HA patients who were negative for intron 22 and intron 1 inversions; sequences were compared with the HAMSTeRS database. A clotting method was used to assay the FVIII activity level and the Bethesda assay was used to detect the FVIII inhibitor.
A total of 18 different HA F8 mutations were identified, seven of which were described for the first time. These novel mutations included five small deletions, one point mutation and one small insertion. One novel mutation (4382-3 AC deletion) was associated with inhibitor development.
These data extend our insight into the mechanisms by which novel amino acid mutations may lead to HA and how the HA patient genotypes influence the risk of FVIII inhibitor.
Preview · Article · Feb 2010 · Chinese medical journal
[Show abstract][Hide abstract]ABSTRACT: To compare the sensitivity and practicability of modified Bethesda assay and Nijmegen assay in detecting factor VIII (FVIII) inhibitor.
Modified Bethesda assay and Nijmegen assay were used to screen FVIII inhibitors in 237 patients with hemophilia A. The buffer plus universal coagulation reference plasma (UCRP) was used to establish a standard curve for FVIII: C assay in modified Bethesda method, instead of Nijmegen plasma plus FVIII deficiency plasma in Nijmegen method. The cutoff value for positive FVIII inhibitors is > or = 0.6 BU/ml.
The positive rate of FVIII inhibitors was 5.5% (n = 13) when using modified Bethesda assay and was 8.4% (n = 20) when using Nijmegen assay (P > 0.05).
Modified standard Bethesda assay is a convenient and feasible method for detecting FVIII inhibitors.
No preview · Article · Oct 2009 · Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
[Show abstract][Hide abstract]ABSTRACT: To summarize the clinical features of invasive pulmonary fungal infection (IPFI) secondary to malignant blood diseases (MBD).
We retrospectively analyzed the clinical data of 52 patients with IPFI secondary to MBD admitted to Peking Union Medical College Hospital from January 1995 to December 2008.
The incidences of IPFI secondary to acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), non-Hodgkin's lymphoma (NHL), and aplastic anemia (AA) were 4.6%, 3.2%, 2.8%, and 2.5%, respectively. In patients with IPFI secondary to AML, 88.5% (23/26) of the patients suffered from the infections during the non-remission (NR) period (including relapse), and 11.5% (3/26) in the complete-remission (CR) period. In all the patients with IPFI secondary to malignant blood diseases, 86.5% (45/52) of MBD were neutropenic or agranulocytic, and 67.3% (35/52) had been treated with broad-spectrum antibiotics for more than 96 hours before anti-fungal therapy. The total mortality after anti-fungal therapy was 13.7% (7/51). More than half of patients with fluconazol or itraconazole as the first-line therapy had to switch to other medicines because of poor infection control.
IPFI secondary to MBD is most common in AML patients. Patients with NR of AML, neutropenia or agranulocytosis, and long-term broad-spectrum anti-biotics usage are susceptible to IPFI. Fluconazol and itraconazole have low efficacy, and other more potent anti-fungal medicines should be considered.
No preview · Article · Oct 2009 · Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
[Show abstract][Hide abstract]ABSTRACT: To screen for factor VIII inhibitor in patients with hemophilia A (HA) and explore the environmental risk factors for inhibitor development.
Totally 265 patients with HA were enrolled, including 107 consecutive inpatients and outpatients in Peking Union Medical College Hospital from April 2003 to April 2007 and 158 patients newly recruited from other hospitals. FVIII: C activity was measured by one-stage coagulation assay. FVIII inhibitor was determined using Bethesda method.
In 265 HA patients, FVIII inhibitor was detected in 22 patients (8.3%). Nine of them (86.4%) were low responders (inhibitor titers < or = 5 000 BU/L), 3 (13.6%) were high responders (the titers > 5 000 BU/L). The frequency of FVIII inhibitor was 50% in the patients aged over 50 years, which was significantly higher than those in other age groups (P = 0. 000). Among 158 newly recruited patients with full clinical data, the frequency of FVIII inhibitor was 12.8% in patients who had received infusion of FVIII products for more than 12 doses on average each year, while it was 5.8% in whom the infusion doses were less than 12 (P = 0.156). The frequency of FVIII inhibitor was 28.5% in patients with a history of continuous infusion of FVIII products whereas it was only 1.6% in patients without such history (P = 0.000). In patients who exposed to multiple-branded or single-branded FVIII products, the frequencies of FVIII inhibitor were 9.3% and 3.9%, respectively (P = 0.229).
The development of factor VIII inhibitor in patients with hemophilia A may be related to the age and the history of continuous infusion of FVIII products.
No preview · Article · Oct 2009 · Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
[Show abstract][Hide abstract]ABSTRACT: Screening the intron 1 inversion of factor VIII (FVIII) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis.
Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in severe HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests.
One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2.8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus.
Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.
No preview · Article · Jul 2009 · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
[Show abstract][Hide abstract]ABSTRACT: To investigate the frequency of intron 1 inversion (inv1) in FVIII gene in Chinese hemophilia A (HA) patients and to investigate the mechanism of pathogenesis.
Peripheral blood samples were collected from 158 unrelated HA patients, aged 20 (1 - 73), including one female HA patient, aged 5, and several family members of a patient positive in inv1. One-stage method was used to assay the FVIII activity (FVIII:C). Long distance PCR and multiple PCR in duplex reactions were used to screen for the intron 22 inversion (inv22) and inv1 of the FVIII coding gene (F8). The F8 coding sequence was amplified with PCR and sequenced with an automatic sequencer.
Two unrelated patients (pedigrees) were detected as inv1 positive with a positive rate of 1.26%. A rare female HA patient with inv1 was also discovered in a positive family (3 HA cases were found in this family and regarded as one case in calculating the total detection rate). The full length of FVIII was sequenced, and no other mutation was detected.
There frequency of FVIII inv1 is low in Chinese HA patients compared with other populations. Female HA patients are heterozygous for FVIII inv1 and that may be resulted from nonrandom inactivation of X chromosome.
No preview · Article · Nov 2008 · Zhonghua yi xue za zhi
[Show abstract][Hide abstract]ABSTRACT: To explore the frequency, clinical features and risk factors of venous thromboembolism (VTE) in hospitalized patients.
The frequency, demographic features, and acquired and inherited factors of in-patient cases of VTE in Peking union medical college hospital from 1994 to 2004 were analyzed retrospectively.
Six hundred and seventy-two patients were enrolled. Among them, male to female ratio was 1.2 and the median age was 53 (14 - 92). Five hundred and eighty (86.3%) patients were at their first diagnosis with the peak ages between 40 and 50 for men and 50 and 60 for women. More common acquired risk factors were antiphospholipid antibody syndrome (APS) (32.0%), trauma / surgery (31.1%) and malignancies (17.1%). 35.7% of the patients had multiple acquired risk factors. Before the initiation of anticoagulation therapy, the activities of protein C (PC), protein S (PS) and antithrombin (AT) were measured in 94 patients. The deficiency of these three natural anticoagulants was 44.7%. Among the anticoagulant deficiencies, PC deficiency was the commonest one (13.8%). Combined deficiency of PC and AT accounted for 10.6%. 31.6% of the 94 patients had inherited plus acquired risk factors.
Age for the first event of VTE in the men was about 10 years ahead of that in the women. The major acquired risk factors were APS, trauma/surgery and malignancies, and inherited risk factors were PC deficiency and PC + AT combined deficiencies. It seems that the coexistence of multiple risk factors plays an important role in triggering VTE.
No preview · Article · Oct 2007 · Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
[Show abstract][Hide abstract]ABSTRACT: To investigate the correlation between plasma fibrinogen level and cerebral infarction (CI) as well as the difference of fibrinogen among subtypes of CI.
A case-controlled study was conducted with 131 cases of CI and 148 controls. Plasma fibrinogen levels were detected by the Clauss method.
High fibrinogen level (3.09 +/- 0.94 g/L) was correlated with CI (OR = 2.47, 95% CI: 1.51-4.04, P < 0.005) at the onset stage of the disease. Persistent high fibrinogen level (3.14 +/- 0.81 g/L) at 6-month after stroke onset was detected and correlated with CI (OR = 4.34, 95% CI: 1.80-10.51, P = 0.001). Higher fibrinogen level was correlated with total anterior circulation infarction (TACI), partial anterior circulation infarction (PACI), and posterior circulation infarction (POCI) (OR = 4.008, P < 0.001). Higher fibrinogen level was correlated with extracranial atherosclerosis (OR = 3.220, P < 0.05, but not with intracranial atherosclerosis.
Fibrinogen level may be a risk factor of CI and probably correlates with subtypes of CI and distributions of atherosclerosis.
No preview · Article · Oct 2006 · Chinese Medical Sciences Journal
[Show abstract][Hide abstract]ABSTRACT: To evaluate the discrimination of serum procalcitonin (PCT) and interleukin-6 (IL-6) between patients with sepsis and non-infectious inflammatory response syndrome (SIRS) and the prediction power of clinical outcome.
A perspective study was performed in 27 patients with sepsis and 30 patients with non-infectious SIRS. The serum concentrations of PCT, IL-6, C-reactive protein (CRP), white blood cell count, percentage of neutrophil, absolute neutrophil count, and maximal body temperature were obtained less than 24 hours after clinical onset of sepsis or SIRS.
The serum levels of PCT and IL-6 and percentage of neutrophil were significantly higher in patients with sepsis than in those with non-infectious SIRS (PCT: 5.54 [1.20, 32.74] microg/L vs 0.77 [0.22, 3.90] microg/L, P=0.001; IL-6: 163.66 [33.60, 505.26] ng/L vs 37.72 [22.52, 110.78] ng/L, P=0.004; CRP [15.28 +/- 8.41] g/L vs [9.51 +/- 7.65] g/L, P=0.010; and percentage of neutrophil: 0.91 +/- 0.04 vs 0.88 +/- 0.04, P=0.010). Receiver operating characteristic curve showed that the power of PCT and IL-6 were the best of all above. There was significant correlation between serum PCT or IL-6 and the acute physiology and chronic health evaluation (APACHE II) or sepsis-related organ failure assessment (SOFA) scores, so was between serum PCT and the intensive care unit (ICU) length of stay.
PCT and IL-6 are more reliable indicators to differentiate sepsis and non-infectious SIRS than the conventional inflammatory markers, and correlate with the disease severity. PCT levels are significantly correlated with ICU length of stay.
No preview · Article · Mar 2005 · Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae