Analysis of hemophilia case information of Shandong province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To summarize the general condition, regional distribution, prevalence and clinical characteristics of Shandong province based on hemophilia case registry information.</p><p><b>METHODS</b>A retrospective study was carried out on 1979 hemophilia patients registered at Shandong Hemophilia Registration Center.</p><p><b>RESULTS</b>The 1979 cases have included 1704 hemophilia A and 275 hemophilia B patients. Hemophilia A was characterized as severe in 1021 patients (59.9%), moderate in 483 patients (28.4%), and mild in 200 patients (11.7%); while hemophilia B was characterized as severe in 125 patients (45.4%), moderate in 116 patients (42.2%), and mild in 34 patients (12.4%). The median age was 23 years (ranging from 1 month to 81 years), and most were young patients. Joint deformity occurred in 963 patients, and 948 patients had a family history of hemophilia. All counties of Shandong province had patients except for Changdao county and Fushan district of Yantai city. The prevalence of Heze city and Dongying city (3.39/100 000 and 3.05/100 000, respectively) were relatively higher.</p><p><b>CONCLUSION</b>The above data revealed epidemiological and clinical characteristics of Shandong Province. Patient-centered registry system allowed a more detailed and accurate patient information, and promoted the comprehensive care of hemophilia, which also suggested the necessity for the establishment and improvement of the National Hemophilia Registry System.</p>

Correlation among prevertebral hyperintensity signal, canal sagittal diameter on MRI and neurologic function of patients with cervical vertebral hyperextension injury / 中国骨伤

<p><b>OBJECTIVE</b>To explore the correlation among prevertebral hyperintensity (PVH), sagittal canal diameter on MRI and neurologic function of patients after cervical vertebral hyperextension injury without fracture and dislocation.</p><p><b>METHODS</b>The clinical data of 100 patients with cervical vertebral hyperextension injury without fracture and dislocation were retrospectively analyzed from September 2010 to December 2013. The patients were divided into PVH group and non-PVH group according to the presence of PVH on T2-weighted magnetic resonance imaging. There were 39 patients in PVH group, including 31 males and 8 females, aged from 21 to 83 years old with an average of (58.10 ± 14.78) years; and the other 69 patients in non-PVH group, including 49 males and 12 females, aged from 32 to 77 years old with an average of (55.05 ± 10.36) years. The sagittal disc level canal diameters of subaxial cervical spine were measured on mid-sagittal magnetic resonance imaging. The age, sex, cause of injury, and the segments of spinal stenosis were recorded. American Spinal Injury Association (ASIA) impairment scale and motor score were used to evaluate the neurological status.</p><p><b>RESULTS</b>The ASIA motor score of the group with PVH was 52.56 ± 31.97 while the ASIA motor score was 67.70 ± 22.83 in non-PVH group (P = 0.013). More patients with intramedullary hyperintensity signal on MRI were observed in the PVH group than in non-PVH group (P = 0.006). There was a significant positive correlation between ASIA motor score and sagittal disc level canal diameter of injury segment (P = 0.003). The neurological status was worse in patients with multi-level sagittal canal diameters below 8 mm.</p><p><b>CONCLUSION</b>The PVH and the disc-level canal sagittal diameter of the injury segment are associated with neurological status. The patients with multi-level sagittal canal stenosis are vulnerable to severe cervical spinal cord injury.</p>

Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an effective laboratory examination system for carrier detection and prenatal diagnosis of haemophilia A (HA).</p><p><b>METHODS</b>Twenty-five carriers of severe HA were directly detected by long-distance PCR (LD-PCR) in search of the factor FVIII (FVIII) gene inversion. Prenatal diagnosis was carried out using pregnant woman's venous blood sample, husband's venous blood sample and fetal navel venous sample at 20-24 weeks of gestation. The plasma coagulation factor VIII activity (FVIII:C) was detected by one-stage method. The concentration of von Willbrand factor (Vwf) was assayed by ELISA. Prenatal diagnosis was finally made by LD-PCR. The results of LD-PCR were proved by DNA sequencing.</p><p><b>RESULTS</b>Eight out of 25 cases were diagnosed as having FVIII geneinversion. Four of these 8 carriers underwent the LD-PCR for prenatal diagnosis, and 2 of them had to terminate pregnancy because their fetuses were diagnosed as having HA. The other two carriers were finally diagnosed to have normal fetuses by combined use of LD-PCR with plasma FVIII:C, vWF in pregnant woman's venous blood, husband's venous blood and fetal navel venous blood, and the one-year follow-up study demonstrated that the babies were normal and living well.</p><p><b>CONCLUSION</b>LD-PCR technique was adopted in this study to detect the factor VIII gene inversion; it could accurately and rapidly diagnose the severe cases of HA and could be used for the HA carriers in need of pregnant diagnosis.</p>

Long distance-PCR for detection of factor VIII gene inversion in patients with severe hemophilia A / 中国实验血液学杂志

The aim of current study was to detect intron 22 inversion of factor VIII gene in severe hemophilia A (HA) patients and screen the carriers of the gene inversion. Fifty-five cases of severe HA were involved and factor VIII gene inversion was detected and identified by long distance-PCR (LD-PCR) and 0.6% agarose gel electrophoresis. The 11 kb and 12 kb bands indicate the factor VIII gene inversion and non-inversion, respectively. Occurring of both 11 kb and 12 kb bands indicates a carrier of the inversion. The results showed that factor VIII gene inversion existed in 22 out of 55 cases, which accounted for about 40% of total detected patients. Five carriers of factor VIII gene inversion were diagnosed from the members in 15 families. In conclusion, LD-PCR assay is a simple, rapid and accurate method for detection of factor VIII gene inversion, and this approach is helpful in screening, carrier testing, and prenatal diagnosis of severe hemophilia A.