OBJECTIVETo analyze significances of different cytogenetic categories for prognostic stratification in patients with primary myelodysplastic syndromes (MDS).

METHODSChromosomal abnormalities of 532 primary MDS patients were categorized according to cytogenetic categories of International Prognostic Scoring System (IPSS), Revised IPSS (IPSS-R), and German-Austrian (G-A). Prognostic impacts of different cytogenetic categories and frequent isolated anomalies were investigated.

RESULTSOf 532 patients, 346(65%) patients had clonal cytogenetic abnormalities, including 200(38%) patients had 1 abnormality, 61(11%) patients had 2 abnormalities, and 85(16%) patients had complex abnormalities. Trisomy 8 was the most frequent karyotype abnormality, occurring in 31% of the patients with clonal cytogenetic abnormalities, other frequent anomalies were -7/del(7q)(13%), del(20q)(12%), del(5q)(9%), -18(5%), -21(5%), i(17q)(5%), -Y(4%), -17(4%), +21(4%), -13/del(13q)(4%), and -22(4%). The proportion of poor karyotypes of IPSS was higher in RAEBI and RAEBII among the World Health Organization classifications than in subgroups with less than 5% blasts. The follow-up data were available for 310 patients with a median follow-up duration of 14.5 months. Median survival was 59 months for patients with normal karyotypes and 26 months for those with abnormal karyotypes. According to IPSS cytogenetic categories, the median survivals of good-risk subgroup, intermediate-risk subgroup and poor-risk subgroup were 59, 43 and 12 months, respectively (P < 0.01). For IPSS-R cytogenetic groups, the median survivals of good-risk subgroup, intermediate-risk(int-risk) subgroup, poor-risk and very poor-risk subgroup were 59, 36, 15, and 10 months, respectively (P < 0.01). According to G-A classification, the median survivals of good-risk subgroup, int-1-risk subgroup, int-2-risk subgroup and poor-risk subgroup were 59, 44, 15, and 11 months, respectively (P < 0.01). In frequent isolated karyotypic abnormalities, +8 had a median survival of 44 months, i(17q) had a median survival of 12 months, and -7/del(7q) had a median survival of 14 months.

CONCLUSIONIn comparison with IPSS and G-A categories, IPSS-R cytogenetic categories are more sophisticated, and can stratify prognosis effectively, but prognostic significances of some karyotypes in IPSS-R still need to be confirmed.

Abnormal Karyotype ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Karyotype ; Male ; Middle Aged ; Myelodysplastic Syndromes ; classification ; diagnosis ; genetics ; Prognosis ; Young Adult

OBJECTIVETo achieve pregnancy with unaffected embryo using in vitro fertilization and embryo transfer (IVF-ET) and preimplantation genetic diagnosis(PGD) for the couples at risk of having children with beta-thalassemia.

METHODSA couple carrying different thalassemia mutations of codon 41/42 and codon IVS2 position 654 received standard IVF treatment and intracytoplasmic sperm injection, embryo biopsy, single cell polymerase chain reaction and DNA analyses, and only the unaffected or carrier embryos were transferred to uterus. Pregnancy confirmation, and prenatal diagnosis were done at 20 week's gestation.

RESULTSA total of 13 embryos were analyzed in the IVF cycle. PGD indicated that 2 were normal 18.1 , 3 were affected 27.3 , and 6 were carriers 54.5 ; diagnosis was not possible in 2. Three embryos were transferred to uterus on the third day after oocyte retrieval. Ultrasonography showed twin pregnancy with one blighted ovum. The prenatal diagnoses revealed that both fetuses were unaffected, one normal baby and one carrier were born.

CONCLUSIONThese studies represent the successful application of PGD for beta-thalassemia in China.

Adult ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Male ; Mutation ; Pregnancy ; Pregnancy Outcome ; Preimplantation Diagnosis ; methods ; Prenatal Diagnosis ; methods ; beta-Thalassemia ; diagnosis ; genetics ; prevention & control

Complex segmental femoral fractures are usually not amenable to closed reduction. The purpose of this study was to evaluate a series of patients who had undergone four pins assisted reduction and intramedullary nail fixation to determine the therapeutic effect of this closed reduction technique. Between December 2010 and January 2013, 15 consecutive patients with segmental femoral fractures were treated with four pins assisted reduction at our hospital. The patient was placed in a supine position on a radiolucent fracture table and a gentle traction was attempted on the limb. Usually, the proximal fracture segment exhibited the typical deformity of flexion, external rotation, and abduction, the middle segment exhibited adduction and distal fracture segment exhibited flexion. Four Schanz pins were placed percutaneously to fix one cortex and did not penetrate into the medullary cavity, and the "T" sharp handles were fixed on the Schanz pins. The fragments were then reduced by reversing the deforming forces for segmental fractures by two assistants. And then, the reduction could be easily achieved and intramedullary nail fixation was performed. Radiographs were evaluated for the quality of the reduction and fracture union. Closed reduction was achieved in all patients using the four pins technology. All 15 fractures united uneventfully. No patient had a rotational malunion or limb length discrepancy at the time of the last follow-up. Thirteen of the fifteen (86.7%) patients had anatomic reduction and two of them (13.3%) had minor varus alignment of 3° and 5°. Knee stiffness was observed in 2 patients and no implant failure was observed. Surgical treatment of complex segmental femoral fractures with four pins assisted reduction and intramedullary nail fixation techniques can result in excellent reductions and a high union rate.
Adult ; Bone Nails ; Femoral Fractures ; diagnostic imaging ; surgery ; Humans ; Male ; Middle Aged ; Radiography

OBJECTIVETo set up a technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene, and to evaluate the possibility of using this technique for preimplantation genetic diagnosis(PGD) of deleted Duchenne muscular dystrophy (DMD) with family history.

METHODSFifty single lymphocytes of a normal male and fifty of a normal female were obtained for detecting dystrophin gene(exon 51, exon 19, exon 48) and SRY gene by 3-plex nested PCR.

RESULTSIn the group of exon 51/exon 19/SRY, the amplification rates of exon 51, exon 19 and SRY in male were 96%, 94% and 94%; the amplification rates of exon 51 and exon19 in female were 94% and 94%, respectively. In the exon 48/exon 19/SRY group, the amplification rates of exon 48, exon 19 and SRY in male were 92%, 90% and 94%, the amplification rates of exon 48, exon 19 in female were 94% and 92%, respectively.

CONCLUSIONThe technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene established in this study is highly sensitive, specific and reliable, and is suitable for PGD of deleted DMD with family history.

Dystrophin ; genetics ; Exons ; genetics ; Female ; Humans ; Male ; Polymerase Chain Reaction ; methods ; Preimplantation Diagnosis ; methods ; Reproducibility of Results ; Sequence Deletion ; Sex Determination Processes

BACKGROUNDClinical programs for preventing beta-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with beta-thalassemia.

METHODSA couple carrying different thalassemia mutations, both a codon 41 - 42 mutation and the IVS II 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.

RESULTSOf a total of 13 embryos analyzed for beta-globin mutations, PGD indicated that 2 were normal, 3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.

CONCLUSIONSWe developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of beta-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed beta-thalassemia free children in China. PEP was used here in PGD for beta-thalassemia.

Adult ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Infant, Newborn ; Male ; Mutation ; Polymerase Chain Reaction ; Pregnancy ; Preimplantation Diagnosis ; beta-Thalassemia ; diagnosis ; genetics

Myxoid adrenocortical neoplasms are rare. Surgical resection of the mass is the first-line therapy. Here we reported a total of four patients, aged 44–66 years, diagnosed with myxoid adrenocortical tumor. The clinical characteristics and immunohistochemical features of the tumor are discussed in the current literature.
Adrenal Cortex Neoplasms ; diagnosis ; metabolism ; surgery ; Adult ; Aged ; Biomarkers, Tumor ; metabolism ; Female ; Humans ; Male ; Middle Aged

Objective To compare patient-reported outcomes after implantation of the ZA9003 intraocular lens (IOLs), or the MCX11 ASP IOLs or the spherical IOLs (HQ-201HEP). Methods Prospective nonrandomized controlled trial was used. A total of 105 patients (210 eyes) were divided into three groups according to the type of IOLs: ZA9003 (35 patients, 70 eyes), MCX11 ASP (35 patients, 70 eyes) or HQ-201HEP (35 patients, 70 eyes). The main outcome was scores of Catquest nine-item short-form questionnaire. Additional outcome was best corrected visual acuities, spherical aberration (SA) and total higher-order aberrations (HOAs). Results The global score was significantly lower in the spherical IOL group than the aspherical IOL group of −020 μm SA (P < 0.05) and the aspherical IOL group of −027 μm SA (P < 0.05), and no significant difference was found in the global score between the aspherical IOL group of −020 μm SA than the aspherical IOL group of −027 μm SA (P > 0.05). Significant differences were also found in question 2, question 5, question 6 and question 8 between the spherical IOLs and the aspherical IOLs. Conclusion Implantation of an aspherical IOL could improve vision-related quality of life compared with a spherical IOL. However, there were no statistically significant differences in vision-related quality of life between aspheric IOLs with different negative spherical aberrations.

ObjectiveThe fractional flow reserve （FFR） computed from coronary computed tomographic （CT） angiograms makes it possible to noninvasively assess coronary artery disease， but the impact of plaque on FFR derived from computed tomography angiography （CTA） is still unknown. The study used invasive FFR as the reference standard to analyze the impact of plaque on coronary computed tomography angiography （CCTA）-based quantitative flow ratio （CT-QFR）. MethodsThe retrospective study included 108 patients with suspected coronary heart disease （CHD） who underwent both CCTA and FFR within 60 days. CCTA images were analyzed by the software. We obtained the CT-QFR of target vessels， perfomed the quantitative and qualitative analyses on target vascular plaques， including total plaque volume （TPV）， plaque burden， calcified plaque volume （CPV）， fibrous plaque volume （FPV）， lipid plaque volume （LPV）， and the presence or absence of high-risk plaque. ResultsAccording to the difference between CT-QFR and FFR at blood vessel level， 137 target vessels of 108 patients were divided into the overestimated group （difference＞0.03， n＝29）， reference group （-0.03≤difference≤0.03， n＝88） and underestimated group （difference＜-0.03， n＝20）. The underestimated group （14.81mm³） presented higher LPV than overestimated group （1.97mm³， P < 0.05）. There was a negative correlation between LPV and the difference （P＜0.05）. ConclusionsWhen CT-QFR is used to estimate hemodynamics of coronary artery stenosis， the presence of lipid plaque may underestimate the virtual FFR.

OBJECTIVETo understand the risk factors on severe acute respiratory syndrome (SARS) among their contacts and to develop effective strategy for its control.

METHODSAvailable epidemiological data of SARS cases and close contacts were reviewed and analyzed by SPSS.

RESULTSOut of the 2195 close contacts, 138 (6.3%) were diagnosed as SARS. Among colleagues and classmates of SARS patients, the infection rate was 0.36% versus 31.71% in contacts among families and hospitals, 0.77% in schools. No one was infected among 459 close contacts to SARS in the working unit.

CONCLUSIONSAmong close contacts, factors that facilitating transmission would include: time, extent, frequency and place of contact to the patients, as well as factors related to close contacts as way, time of isolation and age. One of the epidemiological characteristics was that SARS were as clustered in the family among those close contacts. It is important to control the spread of SARS through supervision on the close contacts to patients.

Adult ; Aged ; China ; epidemiology ; Contact Tracing ; Cross Infection ; transmission ; Family Health ; Female ; Humans ; Infectious Disease Transmission, Patient-to-Professional ; Male ; Middle Aged ; Patient Isolation ; Quarantine ; statistics & numerical data ; Retrospective Studies ; Risk Factors ; Severe Acute Respiratory Syndrome ; epidemiology ; prevention & control ; transmission

BACKGROUNDIn cardiology, it is controversial whether gender influences prognosis after acute myocardial infarction (MI). We examined the 30-day and 1-year prognosis for female patients with ST-elevation myocardial infarction (STEMI) in Liaoning province, and we analyzed factors that influenced these outcomes.

METHODSThis was a prospective, multicenter, observational study in which patient data were collected by questionnaire at the time of diagnosis and at approximately 30 days and 1 year later by telephone inquiries. Patients were diagnosed with STEMI between June 1, 2009 and June 1, 2010 at any of the 20 hospitals that gave treatment representative of current STEMI treatment in Liaoning Province. Unified follow-up questionnaire was used to visit the STEMI patients.

RESULTSWe analyzed data from a total of 1429 consecutive patients with STEMI in Liaoning province. Female patients were older (70.0 vs. 60.3, P < 0.001) and were less likely to receive emergency reperfusion therapy than male ones (39.2% vs. 58.0%, P < 0.001). Female gender was associated with higher unadjusted 30-day mortality rates (HR = 2.118, 95%CI: 1.572 - 2.854, P < 0.001) and higher unadjusted 1-year mortality rates (HR = 2.174, 95%CI: 1.659 - 2.848, P < 0.001). Multivariate Cox regression analysis showed that female gender was not an independent predictor of 30-day mortality rates (HR = 1.273, 95%CI: 0.929 - 1.745, P = 0.133) nor of 1-year mortality rates (HR = 1.112, 95%CI: 0.831 - 1.487, P = 0.475).

CONCLUSIONSWomen with STEMI appear to be at increased risk of 30-day and 1-year mortality compared with male STEMI patients, but this difference may be explained by older age and less frequent receipt of reperfusion therapy among the women.

Aged ; Aged, 80 and over ; China ; Female ; Humans ; Male ; Middle Aged ; Myocardial Infarction ; mortality ; surgery ; Myocardial Reperfusion ; Proportional Hazards Models ; Prospective Studies ; Sex Factors ; Surveys and Questionnaires