ABSTRACT
Objective: To analyze the diagnosis and surgical treatment of high-risk anomalous aortic origin of coronary artery (AAOCA). Methods: This is a retrospective case series study. From January 2016 to July 2023, 24 cases of high-risk AAOCA underwent surgical treatment in Department of Cardiac Surgery, Guangdong Provincial People's Hospital. There were 18 males and 6 females, operatively aged (M (IQR)) 13 (26) years (range: 0.3 to 57.0 years). They were confirmed by cardiac ultrasound and cardiac CT, all of which had anomalous coronary running between the aorta and the pulmonary artery. There were 15 cases of the right coronary artery from the left aortic sinus of Valsalva, 6 cases of left coronary artery from the right aortic sinus of Valsalva, 3 cases of the sigle coronary artery. Only 3 patients had no obvious related symptoms (2 cases were complicated with a positive exercise stress test and 1 case with other intracardiac malformations), 21 cases had a history of chest tightness, chest pain, or syncope after exercise. Three patients suffered syncope after exercise and underwent cardiopulmonary resuscitation (2 cases were treated with an extracorporeal membrane oxygenerator (ECMO)). The gap from the first symptom to the diagnosis was 4.0 (11.5) months (range: 0.2 to 84.0 months). The detection rate of coronary artery abnormalities suggested by the first cardiac ultrasound was only 37.5% (9/24). Seven patients were complicated with other cardiac diseases (4 cases with congenital heart defects, 2 cases with coronary atherosclerotic heart disease, 1 case with mitral valve disease). Results: All 24 patients underwent surgical treatment (23 cases underwent abnormal coronary artery unroofing, 1 case underwent coronary artery bypass grafting), and 5 patients underwent other intracardiac malformation correction at the same time. There were no death or surgery related complications in the hospital for 30 days after the operation. A patient with preoperative extracorporeal cardiopulmonary resuscitation was continuously assisted by ECMO after emergency AAOCA correction and had complications such as limb ischemia necrosis and renal dysfunction after the operation. During the follow-up of 2.2 (3.3) years (range: 1 month to 7.2 years), one patient who previously underwent percutaneous transluminal coronary angioplasty with a stent implant experienced significant postoperative symptomatic relief, and the other discharged patients had no related symptoms. Conclusions: The accurate rate of initial diagnosis for high-risk AAOCA is still low, but the risk of cardiovascular accidents is high. For sports-related chest pain and other symptoms, more attention should be paid to the detection of AAOCA, especially for adolescents. Exercise stress testing can be helpful in evaluating the cardiovascular risk of asymptomatic AAOCA. Instant surgical treatment can achieve satisfactory curative effects.
Subject(s)
Coronary Vessel Anomalies , Male , Adolescent , Female , Humans , Retrospective Studies , Coronary Vessel Anomalies/diagnosis , Coronary Vessel Anomalies/surgery , Aorta , Chest Pain/complications , Syncope/etiologyABSTRACT
A new reduced phase derived from the excitonic insulator candidate Ta2NiSe5 has been synthesized via the intercalation of lithium. LiTa2NiSe5 crystallizes in the orthorhombic space group Pmnb (no. 62) with lattice parameters a = 3.50247(3) Å, b = 13.4053(4) Å, c = 15.7396(2) Å, and Z = 4, with an increase of the unit cell volume by 5.44(1)% compared with Ta2NiSe5. Significant rearrangement of the Ta-Ni-Se layers is observed, in particular a very significant relative displacement of the layers compared to the parent phase, similar to that which occurs under hydrostatic pressure. Neutron powder diffraction experiments and computational analysis confirm that Li occupies a distorted triangular prismatic site formed by Se atoms of adjacent Ta2NiSe5 layers with an average Li-Se bond length of 2.724(2) Å. Li-NMR experiments show a single Li environment at ambient temperature. Intercalation suppresses the distortion to monoclinic symmetry that occurs in Ta2NiSe5 at 328 K and that is believed to be driven by the formation of an excitonic insulating state. Magnetometry data show that the reduced phase has a smaller net diamagnetic susceptibility than Ta2NiSe5 due to the enhancement of the temperature-independent Pauli paramagnetism caused by the increased density of states at the Fermi level evident also from the calculations, consistent with the injection of electrons during intercalation and formation of a metallic phase.
ABSTRACT
Objective: To investigate the clinical features, morphological characteristics, immunophenotype, and differential diagnosis of goblet cell adenocarcinoma (GCA) in the digestive system. Methods: The clinicopathological data, morphological characteristics, immunophenotypes of 22 cases of GCA in the digestive system diagnosed from January 2010 to January 2021 were collected. Meanwhile, 25 cases of neuroendocrine neoplasm (NEN) and 24 cases of adenocarcinoma were used as controls. Relevant literature was also reviewed. Results: There were 16 males and 6 females, aged from 36 to 79 years with an average of 56 years. The anatomical sites of the 22 GCA were mostly appendix (17 cases) and occasionally extra-appendix (5 cases), including 3 cases in stomach, 1 case in duodenum and 1 case in anal. All 17 cases of appendiceal GCA were pure GCA. Among the 5 cases of extra-appendiceal GCA, One case of gastric GCA was pure, two cases of gastric GCA with NEN or adenocarcinoma, duodenal GCA with NEN and adenocarcinoma, anal GCA with NEN.Low-grade GCAs were composed of goblet, Paneth and neuroendocrine cells, which were arranged in intestinal crypt tubular or cluster structures and distributed in the wall of digestive system. The tubular and cluster structures lacked adhesion. Goblet cells were columnar, located in the base, with clear cytoplasm, small nuclei, inconspicuous atypia, and uncommon mitoses. Extracellular mucus and signet-ring cells with nuclear variations could be seen in some cases. Nerve fiber bundle invasion and tumor thrombus in vessels were often present. High-grade GCAs lacked tubular and cluster structures, and their histological structures were more complex. Tumor cells expressed mixed neuroendocrine and glandular epithelial markers. Similar to the expression patterns of synaptophysin and chromogranin A, CD200 and INSM1 were also dot-like or patch-positive in GCA. Conclusions: GCA is an infrequent tumor of the digestive system and shows the bi-directional differentiation characteristics of neuroendocrine and glandular epithelium. Accurate diagnosis and staging are related to its prognosis.
Subject(s)
Adenocarcinoma , Appendiceal Neoplasms , Carcinoid Tumor , Neuroendocrine Tumors , Adenocarcinoma/pathology , Appendiceal Neoplasms/pathology , Appendiceal Neoplasms/surgery , Carcinoid Tumor/pathology , Carcinoid Tumor/surgery , Chromogranin A , Female , Goblet Cells/metabolism , Goblet Cells/pathology , Humans , Male , Neuroendocrine Tumors/pathology , Repressor Proteins , SynaptophysinABSTRACT
AIMS: To investigate genotype and phenotype of congenital nephrogenic diabetes insipidus caused by AVPR2 mutations, which is rare and limitedly studied in Chinese population. METHODS: 88 subjects from 28 families with NDI in a department (Beijing, PUMCH) were screened for AVPR2 mutations. Medical records were retrospectively reviewed and characterized. Genotype and phenotype analysis was performed. RESULTS: 23 AVPR2 mutations were identified, including six novel mutations (p.Y117D, p.W208R, p.L313R, p.S127del, p.V162Sfs*30 and p.G251Pfs*96). The onset-age ranged from 1 week to 3 years. Common presentations were polydipsia and polyuria (100%) and intermittent fever (57%). 21% and 14% of patients had short stature and mental impairment. Urine SG and osmolality were decreased, while serum osmolality and sodium were high. Urological ultrasonography results showed hydronephrosis of the kidney (52%), dilation of the ureter (48%), and thickened bladder wall or increased residual urine (32%), led to intermittent urethral catheterization (7%), cystostomy (11%) and binary nephrostomy (4%). Urological defects were developed in older patients. Genotype and phenotype analysis revealed patients with non-missense mutations had higher levels of serum sodium than missense mutations. CONCLUSION: In the first and largest case series of NDI caused by AVPR2 mutations in Chinese population, we established genetic profile and characterized clinical data, reporting six novel mutations. Further, we found genotype was associated with phenotype. This knowledge broadens genotype and phenotype spectrum of rare congenital NDI caused by AVPR2 mutations, and provides basis for studying molecular biology of AVPR2.
Subject(s)
Cognitive Dysfunction , Diabetes Insipidus, Nephrogenic , Dwarfism , Receptors, Vasopressin/genetics , Urologic Diseases , Adolescent , Age of Onset , China/epidemiology , Cognitive Dysfunction/epidemiology , Cognitive Dysfunction/genetics , Diabetes Insipidus, Nephrogenic/diagnosis , Diabetes Insipidus, Nephrogenic/epidemiology , Diabetes Insipidus, Nephrogenic/genetics , Diabetes Insipidus, Nephrogenic/psychology , Diagnostic Techniques, Urological , Dwarfism/diagnosis , Dwarfism/etiology , Genetic Association Studies , Humans , Mutation , Osmolar Concentration , Pedigree , Ultrasonography/methods , Urinalysis/methods , Urologic Diseases/congenital , Urologic Diseases/epidemiologyABSTRACT
BACKGROUND: Toll-like receptors (TLRs) are expressed on human melanocytes, and play an important role in innate and acquired immunity. The role of TLRs in the pathogenesis of vitiligo has not been fully described. AIM: To investigate the expression of TLRs in melanocytes from patients with vitiligo and healthy controls (HCs). METHODS: Primary cultured vitiligo and control melanocytes were obtained from perilesional normal skin of patients with generalized vitiligo and HCs. TLRs mRNA expression in melanocytes were determined by real-time reverse transcription PCR and protein expression by western blotting. Apoptosis was analysed using an annexin V-fluorescein isothiocyanate apoptosis detection kit, and tyrosinase activity and melanin content were measured by a modified dopachrome and colorimetric method. Interleukin (IL)-6, IL-8 and soluble cell adhesion molecule (sICAM)-1 expression were measured by ELISA. RESULTS: In vitiligo melanocytes, compared with control melanocytes, apoptosis rate, expression of TLR7 and TLR9 mRNA and protein, and production of IL-8, IL-6 and sICAM-1 were significantly increased, whereas tyrosinase activity and melanin content were significantly decreased. CONCLUSIONS: Our results suggest that the increased expression of TLR7 and TLR9 might correlate with melanocyte dysfunction in vitiligo.
Subject(s)
Melanocytes/metabolism , Toll-Like Receptor 7/metabolism , Toll-Like Receptor 9/metabolism , Vitiligo/metabolism , Adult , Apoptosis , Blotting, Western , Cell Adhesion Molecule-1/metabolism , Cells, Cultured , Epidermal Cells/metabolism , Female , Humans , Interleukin-6/metabolism , Interleukin-8/metabolism , Male , Melanins/metabolism , Middle Aged , Monophenol Monooxygenase/metabolism , Pilot Projects , Real-Time Polymerase Chain ReactionABSTRACT
Objective: To analyze the early and midterm results of surgical treatment of interrupted aortic arch (IAA) with double-ventricular procedure. Methods: The data of the 68 cases with the main diagnosis of IAA with biventricular structure from June 2009 to June 2017 at Department of Cardiac Surgery, Guangdong General Hospital was collected, including 46 cases of type A, 22 cases of type B. There was no type C case. Except for 5 cases without patent ductus arteriosus or other intracardiac malformations, the remaining 63 cases were combined with intracardiac deformity. The age of operation was 8 days to 18 years, including 28 cases(41.2%) of newborns, 32 cases(47.1%) within 1 year old, 6 cases(8.8%) from 1 to 15 years old, and 2 cases(2.9%) above 15 years old. Of the 5 patients with no intracardiac malformations, 4 patients were treated with a left-posterior thoracic lateral incision for primary surgical correction with end-to-side anastomosis, and 1 adult patient was treated with a median sternotomy incision to complete the anastomosis with the assist of extracorporeal circulation. Of the 63 patients with intracardiac malformation, 2 underwent reconstruction of the aortic arch via posterolateral left thoracic incision merely; 2 patients underwent staged surgery to correction the IAA and intracardiac malformation; the remaining 59 patients underwent the one-stage procedure of IAA and intracardiac malformation correction with deep hypothermic circulatory arrest and 43 cases of selective cerebral perfusion. A total of 55 cases of end-to-end or end-to-side anastomosis were performed in all aortic arch reconstruction. There were 6 cases of connection the arch to descending aorta with autogenous pulmonary artery conduit, and 1 case with homemade bovine pericardial conduit. And there were 5 cases of anastomosis enlargement with autogenous pulmonary artery patch, and 1 case with left subclavian artery flap patch. There were 1 case performed with D. K.S. operation for the severe hypogenetic aortic valve and ascending aorta, and 1 case with left ventricular double outlet channel operation for the severe subvalvular aortic stenosis. Results: Follow-up to 9 years, 4 deaths (5.9%) related to circulatory system diseases: 3 cases died within 30 days after surgery (1 case was neonatal, 2 cases were 1 to 12 months old); one died 8 months after surgery for low cardiac output syndrome. In the early postoperative period, 11 cases (16.2%) of residual aortic arch obstruction (pressure gradient >30 mmHg) were observed, of which 3 cases were moderate (4.4%); follow-up to 5 years after operation was residual obstruction in 3 cases and moderate in 2 cases. There were 3 cases with aortic valve and subvalvular obstruction (differential pressure >30 mmHg), 3 cases were followed up to 5 years after aortic valve and subvalvular obstruction, and 2 cases were moderate or above. To date, 5 patients have undergone 6 reoperations of the cardiovascular system: 3 cases because of pulmonary artery stenosis, 2 cases because of severe aortic arch stenosis, and 1 case because of aortic subvalvular obstruction. Conclusions: One-stage surgical repair of IAA is safe and clinically effective in the neonatal and infant. But some patients still requires reoperation for re-obstruction from subvalvular or aorta arch. For some patients, the choice of aortic arch reconstruction depends on the specific situation.
Subject(s)
Aorta, Thoracic , Aortic Coarctation , Cardiac Surgical Procedures , Adolescent , Animals , Aorta, Thoracic/abnormalities , Aorta, Thoracic/surgery , Aortic Coarctation/surgery , Cattle , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Reoperation , Treatment OutcomeABSTRACT
Hypothermic preservation is known to cause renal graft injury, especially in donation after circulatory death (DCD) kidney transplantation. We investigated the impact of cold storage (SCS) versus short periods of normothermic ex vivo kidney perfusion (NEVKP) after SCS versus prolonged, continuous NEVKP with near avoidance of SCS on kidney function after transplantation. Following 30 min of warm ischemia, kidneys were removed from 30-kg Yorkshire pigs and preserved for 16 h with (A) 16 h SCS, (B) 15 h SCS + 1 h NEVKP, (C) 8 h SCS + 8 h NEVKP, and (D) 16 h NEVKP. After contralateral kidney resection, grafts were autotransplanted and pigs followed up for 8 days. Perfusate injury markers such as aspartate aminotransferase and lactate dehydrogenase remained low; lactate decreased significantly until end of perfusion in groups C and D (p < 0.001 and p = 0.002). Grafts in group D demonstrated significantly lower serum creatinine peak when compared to all other groups (p < 0.001) and 24-h creatinine clearance at day 3 after surgery was significantly higher (63.4 ± 19.0 mL/min) versus all other groups (p < 0.001). Histological assessment on day 8 demonstrated fewer apoptotic cells in group D (p = 0.008). In conclusion, prolonged, continuous NEVKP provides superior short-term outcomes following DCD kidney transplantation versus SCS or short additional NEVKP following SCS.
Subject(s)
Brain Death , Cold Temperature , Kidney Transplantation/methods , Organ Preservation/methods , Perfusion , Tissue and Organ Harvesting/standards , Animals , Male , Sus scrofa , Tissue and Organ Harvesting/methods , Tissue and Organ ProcurementABSTRACT
Normothermic ex vivo kidney perfusion (NEVKP) demonstrated superior results compared to hypothermic storage in donation after circulatory death (DCD) kidney transplantation. It is unknown whether an optimal perfusion time exists following hypothermic storage to allow for the recovery of renal grafts from cold ischemic injury. In a porcine model of DCD kidney autotransplantation, the impact of initial static cold storage (SCS) (8 h) followed by various periods of NEVKP recovery was investigated: group A, 8 hSCS only (control); group B, 8 hSCS + 1 hNEVKP (brief NEVKP); group C, 8 hSCS + 8 hNEVKP (intermediate NEVKP); and group D, 8 hSCS + 16 hNEVKP (prolonged NEVKP). All grafts were preserved and transplanted successfully. One animal in group D was sacrificed and excluded by postoperative day 3 due to hind limb paralysis, but demonstrated good renal function. Postoperative graft assessment during 8 days' follow-up demonstrated lowest levels of peak serum creatinine for intermediate (C) and prolonged (D) NEVKP (p = 0.027). Histological assessment on day 8 demonstrated a significant difference in tubular injury (p = 0.001), with highest values for group B. These results suggest that longer periods of NEVKP following SCS are feasible and safe for postponing surgical transplant procedure and superior to brief NEVKP, reducing the damage caused during cold ischemic storage of renal grafts.
Subject(s)
Body Temperature Regulation , Kidney Transplantation/methods , Perfusion/methods , Animals , Humans , In Vitro Techniques , Male , Models, Animal , SwineABSTRACT
Objective: To discuss the surgical treatment and early-mid follow-up results of complete atrioventricular septal defect (CAVSD). Methods: The clinic data of 235 cases of CAVSD underwent surgical treatment at Department of Cardiac Surgery, Guangdong General Hospital from June 2009 to June 2016 was analyzed retrospectively (104 male and 131 female patients). The patients were aged 18 days to 58 years (mid age 8.9 months) at surgery, and 2 cases of newborns (0.9%), 24 cases of 1 to 3 months (10.2%), 56 cases of 4 to 6 months (23.8%), 66 cases of 7 to 12 months (28.1%), 36 cases of 1 to 3 years (15.3%), 37 cases of 4 to 18 years (15.7%), and 14 cases above 18 years (6.0%). There were 129 cases of Rastelli type A (54.89%), 16 cases of type B (6.8%), 25 cases of type C (10.6%) and 65 cases of transitional type (27.7%). The patients were combined with 7 cases of unroofed coronary sinus syndrome, 5 cases of coarctation of aorta, 4 cases of tetralogy of Fallot, 3 cases of double outlet right ventricle, 1 case of transposition of the great arteries, 1 case of multiple ventricular septal defect, 1 case of pulmonary artery sling. The CAVSD correction operations were performed in 199 cases with modified single patch technique (84.7%), 26 cases with two patch technique (11.1%), 10 cases with conventional single patch technique (4.3%), and the corrective surgeries of other anomalies were performed in the meantime. Generalized Estimated Equation was used to statistical analysis of postoperative regurgitation level of mitral valve and tricuspid valve. Results: Followed-up for 1 to 7 years, 18 cases (7.7%) died overall and 15 cases (6.4%) died within 30 days post-operation.The mortality of little infant (operation age ≤3 months) was much highest(26.9%). The mortality of different operation age had significant difference(P=0.007). There was no difference among the mortality with three techniques. Seven cases (3.0%) suffered from the re-operation for severe mitral regurgitation. A total of 217 patients survived more than 1 year after initial surgery, and there were 11 cases (5.1%) with severe mitral regurgitation and 7 cases (3.2%) with severe tricuspid valve regurgitation at 1 year post-operation.The degree of mitral regurgitation after operation decreased at 1 week to 6 months, and slightly higher after 1 year postoperatively.The ratios of severe mitral regurgitation in different operative age group was statistically significant difference(P=0.017), mainly from 3 months group and 1 to 3 years group.The degree of tricuspid regurgitation decreased significantly after operation, and decreased gradually in the follow-up period. The ratio of postoperative residual severe tricuspid regurgitation was the highest in surgical aged >18 years old, less in 3 years group, the lowest in 3 to 18 years group. Conclusions: The mortality and the ratio of patients with serious mitral regurgitation were higher in infants less 3 months than elder patients. The infants need more frequently follow-up and medicine treatment after operation. The modified one patch technique is effective for all age groups.
Subject(s)
Cardiac Surgical Procedures , Heart Septal Defects/surgery , Mitral Valve Insufficiency , Tricuspid Valve Insufficiency , Adolescent , Adult , Aortic Coarctation , Child , Child, Preschool , Female , Follow-Up Studies , Heart Defects, Congenital , Heart Septal Defects, Ventricular , Heart Septum , Heart Ventricles , Humans , Infant , Infant, Newborn , Male , Middle Aged , Mitral Valve , Postoperative Period , Reoperation , Retrospective Studies , Transposition of Great Vessels , Treatment Outcome , Young AdultABSTRACT
Objective: To investigate clinical features and the long-term surgery results of Möbius syndrome patients. Methods: This investigation presents a retrospective study of Möbius syndrome in 7 children we found since 2009. All 7 patients had MRI scan, ocular alignment in primary position, the limitation of versions and ductions and forced duction under general anesthesia. Early surgery is done to the 7 esotropia children. The pre-operative and post-operative outcomes, including the ocular alignment, deviation measurements and ocular rotations, were evaluated and compared. Results: MRI showed absence of uni- or bilateral CN6 and CN7 in all 7 patients. All 7 patients underwent extra large recession of medial rectus at the first surgery, (6.17±1.47) mm/eye. Variation of ocular deviation in the primary position within 6 months postoperatively in all patients, demonstrating that strabismus surgical stabilization needs time. Three patients with esotropia deviation≥40° preoperative were under corrected and needed the secondary operations. The average deviation in the primary position was +35.00°±16.58° before surgery and +2.14°±5.67° after surgery(t=6.040, P<0.01). The abduction in affected eye is limited both pre and postoperatively and a smaller limitation of adduction after surgery. Conclusions: Möbius syndrome has been classified to congenital cranial dysinnervation disorders (CCDDs). We recommend MR recession as the first surgical choice because of the lack of abduction ability. Longterm surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction. (Chin J Ophthalmol, 2017, 53: 897-902).
Subject(s)
Esotropia , Mobius Syndrome , Ophthalmologic Surgical Procedures , Strabismus , Child , Esotropia/surgery , Humans , Mobius Syndrome/surgery , Oculomotor Muscles , Retrospective Studies , Strabismus/surgery , Treatment Outcome , Vision, BinocularABSTRACT
Tumor necrosis factor superfamily member 4 (TNFSF4) plays an important role in atherosclerosis development. However, the biological significance of TNFSF4 variants on myocardial infarction (MI) pathogenesis remains poorly understood. We investigated the influence of 5 TNFSF4 tagging single nucleotide polymorphisms (rs3861950, rs17346501, rs7518045, rs1234313, and rs3850641) on individual susceptibility to MI in a Chinese population of 285 MI patients and 645 controls. Genotyping was performed using the polymerase chain reaction-ligase detection reaction method. In multivariate logistic regression analysis, only the TNFSF4 tagging single nucleotide polymorphism rs7518045 exhibited a significant effect on MI risk; A allele (odds ratio = 0.68, 95% confidence interval = 0.46-1.00, P = 0.048) and AA genotype (odds ratio = 0.64, 95% confidence interval = 0.42-0.97, P = 0.036) were associated with a decreased risk of MI compared with the G allele and the combined AG/GG genotype, respectively. Moreover, the haplotype rs3861950C-rs17346501C-rs7518045A-rs1234313G containing the rs7518045 A allele also exhibited a significant association with a decreased risk for MI (odds ratio = 0.42, 95% confidence interval = 0.21-0.84, P = 0.011). Our study showed that the A allele of the rs7518045 and haplotype rs3861950C-rs17346501C-rs7518045A-rs1234313G in the TNFSF4 gene were associated with decreased MI risk in a Chinese Han population. Further studies using larger sample sizes and in diverse ethnic populations are needed to confirm the general validity of our findings.
Subject(s)
Asian People/ethnology , Asian People/genetics , Myocardial Infarction/genetics , OX40 Ligand/genetics , Polymorphism, Single Nucleotide , Aged , Case-Control Studies , China/ethnology , Female , Genetic Association Studies , Genetic Predisposition to Disease , Haplotypes , Humans , Male , Middle Aged , Myocardial Infarction/ethnologyABSTRACT
The Janus kinase 2 (JAK2) V617F mutation has considerably helped understanding of the molecular pathogenesis of chronic myeloproliferative disorders (MPD), hence this study investigated for the first time the mutational status and relative quantitation of JAK2 V617F mRNA in Chinese patients with chronic MPD. The study cohort comprised 123 chronic MPD patients (35 with polycythaemia vera [PV], 85 with essential thrombocythaemia [ET], three with idiopathic myelofibrosis [IMF]). Blood samples examined by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and capillary electrophoresis showed that the prevalence of the JAK2 V617F mutation was 100%, 62.4% and 66.7% in PV, ET and IMF patients, respectively. The proportion of JAK2 V617F mutated mRNA was 89.5% in homozygotes and 57.9% in heterozygotes; 18 PV heterozygous patients showed significantly higher mutated JAK2 mRNA levels than 36 heterozygous ET patients. Six of 93 patients exhibited abnormal karyotypes, but specific chromosomal abnormality was not found. The combination of ARMS-PCR and capillary electrophoresis enables quantitative assay of JAK2 V617F mutation, which helps in chronic MPD diagnosis and estimation of minimal residual disease.
Subject(s)
Asian People/genetics , Janus Kinase 2/analysis , Janus Kinase 2/genetics , Myeloproliferative Disorders/enzymology , Myeloproliferative Disorders/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Base Sequence , Chronic Disease , Cytogenetics , Humans , Janus Kinase 2/metabolism , Middle Aged , Mutation/genetics , Myeloproliferative Disorders/bloodABSTRACT
Objective: To investigate the current status and real performance of the detection of RUNX1-RUNX1T1 fusion transcript levels and WT1 transcript levels in China through interlaboratory comparison. Methods: Peking University People's Hospital (PKUPH) prepared the samples for comparison. That is, the fresh RUNX1-RUNX1T1 positive (+) bone morrow nucleated cells were serially diluted with RUNX1-RUNX1T1 negative (-) nucleated cells from different patients. Totally 23 sets with 14 different samples per set were prepared. TRIzol reagent was added in each tube and thoroughly mixed with cells for homogenization. Each laboratory simultaneously tested RUNX1-RUNX1T1 and WT1 transcript levels of one set of samples by real-time quantitative PCR method. All transcript levels were reported as the percentage of RUNX1-RUNX1T1 or WT1 transcript copies/ABL copies. Spearman correlation coefficient between the reported transcript levels of each participated laboratory and those of PKUPH was calculated. Results: â RUNX1-RUNX1T1 comparison: 9 samples were (+) and 5 were (-) , the false negative and positive rates of the 20 participated laboratories were 0 (0/180) and 5% (5/100) , respectively. The reported transcript levels of all 9 positive samples were different among laboratories. The median reported transcript levels of 9 positive samples were from 0.060% to 176.7%, which covered 3.5-log. The ratios of each sample's highest to the lowest reported transcript levels were from 5.5 to 12.3 (one result which obviously deviated from other laboratories' results was not included) , 85% (17/20) of the laboratories had correlation coefficient ≥0.98. â¡WT1 comparison: The median reported transcript levels of all 14 samples were from 0.17% to 67.6%, which covered 2.6-log. The ratios of each sample's highest to the lowest reported transcript levels were from 5.3-13.7, 62% (13/21) of the laboratories had correlation coefficient ≥0.98. ⢠The relative relationship of the reported RUNX1-RUNX1T1 transcript levels between the participants and PKUPH was not always consistent with that of WT1 transcript levels. Both RUNX1-RUNX1T1 and WT1 transcript levels from 2 and 7 laboratories were individually lower than and higher than those of PKUPH, whereas for the rest 11 laboratories, one transcript level was higher than and the other was lower than that of PKUPH. Conclusion: The reported RUNX1-RUNX1T1 and WT1 transcript levels were different among laboratories for the same sample. Most of the participated laboratories reported highly consistent result with that of PKUPH. The relationship between laboratories of the different transcript levels may not be the same.
Subject(s)
Leukemia, Myeloid, Acute , China , Core Binding Factor Alpha 2 Subunit , Humans , RUNX1 Translocation Partner 1 Protein , Real-Time Polymerase Chain Reaction , Transcription, Genetic , WT1 ProteinsABSTRACT
To find the underlying causes of primary myelodysplastic syndrome (MDS), the gene expression profiling of both CD34+ cells and bone marrow mononuclear cells from MDS patients was performed using oligonucleotide microarray and cDNA microarrays, respectively. Several candidate genes which were differentially expressed in MDS patients versus normal controls were selected and confirmed in expanding samples by quantitative real-time reverse transcription-polymerase chain reaction after clustering and bioinformatics analysis. one of these genes, RAP1GAP, was found to be expressed at a significantly higher level in patients with MDS in comparison with those suffering from other hematopoietic diseases including leukemia (P < 0.01). We propose that over-expression of RAP1GAP gene may play a role in the pathogenesis of MDS.
Subject(s)
GTPase-Activating Proteins/genetics , Gene Expression Profiling , Myelodysplastic Syndromes/genetics , Adult , Aged , Antigens, CD34/blood , Bone Marrow Cells/cytology , Bone Marrow Cells/metabolism , Cluster Analysis , Female , Humans , Leukocytes, Mononuclear/cytology , Leukocytes, Mononuclear/metabolism , Male , Middle Aged , Monocytes/metabolism , Myelodysplastic Syndromes/blood , Oligonucleotide Array Sequence Analysis , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
Objective:To explore the equivalence of the test results of the water or air caloric tests and the compliance of the test in the healthy individuals. To provide scientific basis for clinical standardization of caloric test.Method: Randomized crossover clinical trial, 60 healthy individuals were divided into group A and group B. Water caloric test was carried out first in group A, and air caloric test was carried out after elution effect(one day interval). The treatment of group B was opposite to group A. SPV(Slow Phase Velocity), CP(canal paralysis) and SPV and CP' s 95%CI were used as evaluation indexes to analyze the equivalence of water and air caloric test in healthy people and the clinical normal reference value and stability and compliance of the water and air caloric test. Result: â 60 cases of caloric test CP value of chi square test suggested that there was no statistical difference between two kinds of media in the examination of the vestibular function of healthy individuals, and the CP value of the two was 85%(51/60). â¡the SPV value of the was obviously higher than that of the air caloric test. The SPV value at each temperature of the water caloric test stimulation is quite different from the air caloric test stimulation. â¢The range of water caloric test stimulation CP 95%CI was 8%-12%, and the average value was 10%. The interval of air caloric test stimulation CP 95%CI was 10%-15% and the average value was 12%. â£This study provided the corresponding SPV 95%CI as the medical reference values. â¤The subjects of 98.33%(59/60) of the questionnaire survey selecting air caloric test and the results of the observation indicated that the duration of the air caloric test was shorter and more comfortable. Conclusion: â Air caloric test can satisfied the needs of clinical assessment of horizontal semicircular canal function, and can make patients feel more comfortable. However, due to the weak intensity of nystagmus, water caloric test has to be used when the SPV value is too low. â¡In this study, the upper limit of the CP value of the air caloric test in healthy individuals was 0.21, which is quite different from the upper limit of the standard value was 0.25 of the water caloric test. Therefore, the laboratory should establish their own reference value of the laboratory caloric test, and should not blindly apply the standard value of the water caloric test as the standard of the hemiplegia of the unilateral semicircular canal. The results of this study suggest that air caloric test can be used instead of water caloric test in clinic. And if the patient has no contraindications, air caloric test can be used as a priority.
ABSTRACT
OBJECTIVE: Our aim was to evaluate the general applicability, feasibility, and safety of robot-assisted radical prostatectomy (RARP) in Chinese renal allograft patients for prostate cancer removal. PATIENTS AND METHODS: A 62-year-old patient diagnosed as having biopsy-proven localized prostate cancer in March 2016 who had undergone renal transplant 12 years ago was studied. The preoperative prostate-specific antigen value was determined to be 11.82 ng/mL and the Gleason score was determined to be 3 + 3. The RARP was carried out using a transperitoneal and posterior approach with 5 ports in May 2016. The most important technique was ensuring that the transplanted kidney and ureter remained untouched during the surgery. Only the right obturator lymph nodes were dissected because the renal allograft was overlying the iliac vessels. RESULTS: The RARP was successfully concluded following 230 minutes with an estimated blood loss of 200 mL. There were no postoperative complications. Final pathology was T2cN0M0, Gleason 3 + 3. Following catheter removal, the patient was completely continent and was discharged with no change in serum creatinine or glomerular filtration rate levels. During a 21-month follow-up, unobstructed urination, no incontinence, no biochemical recurrence, and normal kidney function were observed. CONCLUSION: RARP in Chinese renal allograft patients is a feasible method that can be accomplished with no injuries to the transplanted kidney or ureter and is achieved with favorable oncological and functional outcomes. In addition, post-kidney transplant male patients are recommended to have routine prostate-specific antigen screening for the early detection of prostate cancer.
Subject(s)
Kidney Transplantation , Prostatectomy/methods , Prostatic Neoplasms/surgery , Robotic Surgical Procedures/methods , China , Humans , Male , Middle Aged , Postoperative Complications , Prostate-Specific Antigen/blood , Prostatectomy/instrumentation , Prostatic Neoplasms/complications , Prostatic Neoplasms/pathology , Robotic Surgical Procedures/instrumentation , Transplantation, HomologousABSTRACT
Objective: To investigate the characteristics of the essential thrombocythemia (ET) cases transformed to the acute myeloid leukemia (AML) and the role of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of this disease. Methods: The clinical and laboratory characteristics of 3 ET cases before and after transformation and after allo-HSCT were retrospectively analyzed, meanwhile the related literatures were reviewed and discussed. Results: Case 1 was a male patient of 44 years old, whose PLT was 500×10(9)/L when firstly diagnosed ET. After 3 years the disease progressed into myelodysplastic syndrome (MDS) while WT1 expression increased from 77 (first visit) to 13 171 copies/10 000 ABL copies, at the same time chromosome changed dramatically. During the period of decitabine treatment the disease processed into AML. Case 2 was a male of 58 years old whose PLT was 2 100×10(9)/L when firstly diagnosed ET. The disease progressed to AML after 9 years, whose WT1 expression increased from 130 (first visit) to 3 222 copies/10 000 ABL copies, and he relapsed shortly after intensive chemotherapy. Case 3 was a male of 60 years old whose PLT was 900×10(9)/L when firstly diagnosed ET. The disease progressed to AML after 5 years, whose WT1 increased from 56 (first visit) to3 696 copies/10 000 ABL copies. Moreover leukemia spread to central nervous system (CNS) during chemotherapy. Before allo-HSCT, cases 1 did not achieve remission; case 2 relapsed after a short time of remission and case 3 transferred to CNS leukemia. All of the 3 cases underwent allo-HSCT successfully, and they all achieved completely remission, whose chromosome and gene mutation recovered negative. At the same time, CNS leukemia of case 3 disappeared. The median WT1 decreased to 50 copies/10 000 ABL copies. There was no severe complication during the median time of 5 months after allo-HSCT. Conclusions: The patients transformed to AML had poor prognosis, allo-HSCT was the only method that can cure the disease now.
Subject(s)
Leukemia, Myeloid, Acute , Hematopoietic Stem Cell Transplantation , Humans , Male , Middle Aged , Retrospective Studies , Thrombocythemia, Essential , Transplantation, HomologousABSTRACT
Objective: To investigate the overexpression frequencies of BRE and EVI1, the correlation between BRE and EVI1 expressions and their possible clinical implications in 11q23/MLL rearrangement acute leukemia. Methods: Cytogenetic examination of bone marrow cells was performed by short-term culture method. R-banding technique was used for karyotype analysis. 47 patients were detected by interphase fluorescence in situ hybridization (FISH) with dual-color break apart MLL probe. The expressions of EVI1 and BRE genes were detected by real time quantitative reverse transcription polymerase chain reaction (RQ-PCR) . The correlation and prognostic significance were statistically tested. Results: 11q23/MLL rearrangements were confirmed by karyotyping and FISH, respectively in 47 patients. According to immunophenotypic analyses of 37 patients, 5 patients showed positive for CD19, CD79a or CD10, 1 for CD7; the others for CD33, CD13, CD14 and CD15, and 16 of them for CD34. Of the 47 patients, 18 patients showed EVI1 overexpression and most of them presented with t (6;11) and M(4)/M(5). The EVI1 expression was high in t (6;11) or t (9;11) subgroup comparable with levels observed in normal subgroup (P=0.038, 0.022, respectively) . 15 patients showed high BRE expression, and most of them presented with t (9;11) and M(4)/M(5). High BRE expression was found in t (4;11) , t (6;11) , t (9;11) and t (11;19) subgroups, respectively by comparing with normal subgroup. The BRE expression was higher in t (4;11) (P=0.004) or t (9;11) (P=0.012) subgroup than in t (6;11) subgroup. Patients with EVI1 overexpression had a short survival compared with those with low EVI1 expression (P=0.049) and it also did in t (9;11) subgroup (P=0.024) . Patients with t (9;11) and high BRE expression had a long survival compared with those with t (9;11) and low BRE expression (P=0.024) . Conclusion: The EVI1 overexpression was significantly frequent in acute leukemia patients with 11q23/MLL rearranged, especially within t (6;11) subgroup and M(4)/M(5), which was associated with an inferior outcome. High BRE expression was observed frequently in 11q23/MLL-rearranged acute leukemia especially within t (9;11) subgroup and M(5).
Subject(s)
Chromosomes, Human, Pair 11 , Leukemia, Myeloid, Acute , Acute Disease , Bone Marrow Cells , Chromosome Banding , Gene Rearrangement , Histone-Lysine N-Methyltransferase , Humans , Immunophenotyping , In Situ Hybridization, Fluorescence , Interphase , Karyotyping , Myeloid-Lymphoid Leukemia Protein , Prognosis , Real-Time Polymerase Chain ReactionABSTRACT
Objective: To investigate the immune reconstruct regularity profile of KIR2DL1 and KIR3DL1 in unrelated-donor allogeneic hematopoietic stem cell transplantation (allo-HSCT) with KIR-AA genotype. Method: 75 donor-recipient pairs were performed by KIR genotying using PCR-SSP, and all donors were identified with KIR-AA genotype. Dynamic detections (including unrelated-donor on the day of transplantation and the recipient each month post allo-HSCT) of the expression of KIR2DL1/3DL1 on NK cell and mRNA level were performed in 291 cases using flow cytometry (FCM) and real-time fluorescent quantitation PCR (RT-qPCR) . Result: â The median expression of KIR2DL1 in unrelated-donor on transplant's day was 21.60%, the median expression of KIR2DL1 in recipient 1M, 2M, 3M and 3-6M after transplantation were 7.40%, 12.00%, 16.92%, 17.64% respectively. The median expression of KIR2DL1 in unrelated-donor on transplant's day was 265.14 copies/10 000abl copies, the median expression of KIR2DL1 in recipient 1M, 2M, 3M, 3-6M, 6-9M, 9-12M after transplantation were 332.17, 438.31, 723.25, 414.17, 180.76 and 234.67 copies/10 000abl copies respectively. The median expression of KIR2DL1 on NK cells and mRNA level gradually increased at all time points after transplantation, and reached the highest expression at 3 months after transplantation. But mRNA expression levels increased earlier than NK cell membrane proteins. â¡The median expression of KIR3DL1 in unrelated-donors on transplant's day was 18.56%, the median expression of KIR3DL1 in recipient 1M, 2M, 3M, 3-6M after transplantation were 23.83%, 22.57%, 23.02%, 21.60% respectively. The median expression of KIR3DL1 in unrelated-donor on transplant's day was 572.29 copies/10 000abl copies, the median expression of KIR3DL1 in recipient 1M, 2M, 3M, 3-6M, 6-9M, 9-12M after transplantation were 1 233.74, 1 140.42, 876.73, 1 057.07, 739.02 and 514.43 copies/10 000abl copies respectively. The median expression of KIR3DL1 on NK cells and mRNA level were higher than donors at 1 month after transplantation, and stable expression at all time points after transplantation, so mRNA and NK cell membrane proteins expression increased at the same time. Conclusion: The immune reconstruct regularity of KIR2DL1 and KIR3DL1 gene were different, which provided an experimental basis for selecting the best time to detect the expressions of KIR2DL1 and 3DL1 after transplantation.
Subject(s)
Hematopoietic Stem Cell Transplantation , Genotype , Humans , Killer Cells, Natural , Receptors, KIR , Receptors, KIR2DL1 , Receptors, KIR3DL1 , Transplantation, Homologous , Unrelated DonorsABSTRACT
We present a pore-scale dissolution model for the simulation of reactive transport in complex porous media such as those encountered in carbon-storage injection processes. We couple a lattice Boltzmann model for flow calculation with a finite-volume method for solving chemical transport equations, and allow the computational grid to change as mineral surfaces are dissolved according to first-order reaction kinetics. We appraise this scheme for use with high Péclet number flows in three-dimensional geometries and show how the popular first-order convection scheme is affected by severe numerical diffusion when grid Péclet numbers exceed unity, and confirm that this can be overcome relatively easily by using a second-order method in conjunction with a flux-limiter function. We then propose a surface rescaling method which uses parabolic elements to counteract errors in surface area exposed by the Cartesian grid and avoid the use of more complex embedded surface methods when surface reaction kinetics are incorporated. Finally, we compute dissolution in an image of a real porous limestone rock sample injected with HCl for different Péclet numbers and obtain dissolution patterns in concordance with theory and experimental observation. A low injection flow rate was shown to lead to erosion of the pore space concentrated at the face of the rock, whereas a high flow rate leads to wormhole formation.