OBJECTIVETo investigate the genetic polymorphism of 9 short tandem repeats (STR) gene loci, namely CSFIPO, TPOX, TH01, D16S539, D7S820, D13S317, F13A01, FESFPS and vWA in Chinese Korean population in Mudajiang area.

METHODSAmplified fragment length polymorphism (Amp-FLP) method was used to get the allele frequency distribution.

RESULTSThe genotype distributions of the 9 STR loci are conformed to Hardy-Weinberg equilibrium by chi(2) test analysis. The total accord frequency, the accumulated total discrimination power and the the accumulative excluding probability of paternity were calculated.

CONCLUSIONThe result suggested that all 9 gene loci have high power of excluding probability of paternity and individual identification. They can be used in paternity testing and individual identification for forensic medicine. The gene frequencies of CSFIPO, TPOX and TP01 gene loci have significant differences between the Korean population in Mudanjiang area and those in Yanji area, but there is no difference in gene loci of D7S820, D17S317 and vWA.

Amplified Fragment Length Polymorphism Analysis ; Asian Continental Ancestry Group ; Humans ; Korea ; Microsatellite Repeats ; genetics ; Polymorphism, Genetic ; genetics

Objective To investigate the protein expression of phosphatidylinositol 3-kinase (PI3K), phosphorylated Akt B (p-Akt) and p-mTOR in human gliomas, and evaluate their clinical significance in clinicopathological status and prognosis of these patients with gliomas. Methods Eighty-eight patients, admitted to our hospital from September 2004 to September 2008, were chosen in our study; these patients were performed surgical resection and the samples were pathologically confirmed as gliomas. Another 20 samples, cut from the normal brain tissue were adopted as controls.Immunohistochemistry was employed to examine the protein expression of PI3K, p-AKT and p-mTOR.Then, the correlation of their expression with the clinicopathological features of the gliomas and prognosis of the patients was further analyzed. Results The positive expression rates of PI3K in gliomas and normal brain tissues were 68.18% (60/88) and 18.18% (16/88), respectively; those of p-AKT were 73.86% (65/88) and 17.05% (15/88), respectively;, those of p-mTOR were 75.00% (66/88) and 18.18% (16/88), respectively; the expression levels of these 3 proteins were all significantly higher than those in normal brain tissues (PI3K: x2=14.028, P=0.009; p-AKT: x2=15.132, P=0.008 and mTOR:x2=15.293, P=0.008). The positive expression rates of PI3K, p-AKT and p-mTOR were significantly different in the gliomas with pathological grades, different scores of Karnofsky performance status and different clinical stages (P＜0.05). In addition, the 5-year overall survival rate in PI3K-positive group,p-AKT-positive group and p-mTOR-positive group was significantly lower than in those negative groups (PI3K: x2=8.381, P=0.026; p-AKT: x2=12.923, P=0.011; mTOR: x2=13.252, P=0.013). Conclusion PI3K/Akt/mTOR signal transduction pathway is over-activated in gliornas, which is closely correlated to the grade-malignancy; and the positive expression of PI3K, p-AKT and p-mTOR may predict the poor prognosis of the patients with gliomas.

OBJECTIVETo evaluate the indication, time and strategy of surgery for patients with bilateral carotid atherosclerotic stenosis.

METHODSSeventy-four patients with bilateral carotid atherosclecrotic stenosis were admitted to our hospital from February 1987 to December 2007. In 34 patients who presented with unilateral symptoms and underwent ipsilateral carotid endarterectomy (CEA), contralateral CEA or carotid artery stenting (CAS) was performed in 8 because of severe stenosis (> 70%) or unstable plaque. Thirty-eight patients presented with bilateral symptoms. Among them, 15 underwent CEA on both sides, 3 were performed CEA on one side and CAS on the other side, while 20 underwent unilateral CEA only. In 2 asymptomatic patients, CEA was also performed.

RESULTSNinety-three cases of CEA were performed in 74 patients. Sixty-eight patients were uneventful after operation. Neurological deficits deteriorated in 2 patients. Four patients developed cardiac ischemia, cerebral hemorrhage and hoarseness respectively. Sixty-seven patients were followed-up for 4.9 years. No cerebral ischemia relevant to operated carotid artery developed in 63 patients.

CONCLUSIONSIf the indication is obvious, CEA should be performed no matter how contralateral carotid artery is. The strategy of therapy is individual. Whether using shunt depends on intra-operative monitoring.

Adult ; Aged ; Atherosclerosis ; complications ; Carotid Stenosis ; etiology ; surgery ; Endarterectomy, Carotid ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Stents

OBJECTIVETo study the possible clonal origin of neuroendocrine cells in colorectal adenocarcinoma.

METHODSTwenty-six microsatellite loci were screened using laser capture microdissection, DNA extraction and whole genome amplification. Microsatellite instability (MSI) and loss of heterozygosity (LOH) in adenocarcinoma cells and neuroendocrine cells amongst 30 cases of colorectal carcinoma with neuroendocrine differentiation were detected using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)-silver staining. The mutation status of p53 was evaluated by PCR-sequencing. The clonal origin of neuroendocrine cells in colorectal adenocarcinoma was determined.

RESULTSAmongst the 30 cases studied, the prevalence of MSI was 16.9% while that of LOH was 8.5%. The rate showed no statistically significant difference between adenocarcinoma cells and neuroendocrine cells. In 6 cases, the microsatellite alteration was entirely consistent. In 23 cases, the rate of microsatellite alteration consistency was greater than that of inconsistency. In 1 case, the consistency and inconsistency rates were identical. There was statistically significant difference between consistency and inconsistency of microsatellite alteration. The prevalence of p53 mutation was 16.7% which was the same for both adenocarcinoma cells and neuroendocrine cells.

CONCLUSIONSAdenocarcinoma cells and neuroendocrine cells in colorectal adenocarcinoma with neuroendocrine differentiation have similar biologic changes. It is likely that they are of identical origin.

Adenocarcinoma ; genetics ; pathology ; Colorectal Neoplasms ; genetics ; pathology ; DNA Mutational Analysis ; Humans ; Laser Capture Microdissection ; Loss of Heterozygosity ; Microsatellite Instability ; Neuroendocrine Cells ; pathology ; Tumor Suppressor Protein p53 ; genetics

OBJECTIVETo explore the outcome of remission induction chemotherapy (IC) and prognostic in elderly patients with acute myeloid leukemia (AML).

METHODSThe clinical data of 156 AML patients older than 60 years in the Institute of Hematology, Union Hospital of Fujian Medical University from January 2003 to July 2010 were analyzed retrospectively. 104 patients received cytarabine-based regimens, including protocol DA,IA or CAG,while 52 patients received palliative treatment. The median survival time was compared between patients with and without IC. The prognostic factors were evaluated by using univariate and multivariate analyses.

RESULTS145 (93%) cases were followed-up. The median survival time was 316 days in 96 IC patients, compared with 37 days in 49 PT patients (P < 0.01). Not receiving induction chemotherapy,high-risk karyotype,hyperleukocytosis (> or = 100 x 10(9)/L), Charlson Comorbidity Index (CCI) > or = 2 were adverse prognostic factors of the survival time with univariate analysis, and all were independent poor factors affecting the survival time with multivariate analysis.

CONCLUSIONSIC can improve outcomes in elderly AML patients. The patients with hyperleukocytosis (> or = 100 x 10(9)/L) , high-risk karyotype, CCI > or = 2 and without receiving IC have poorer prognosis.

Aged ; Aged, 80 and over ; Female ; Humans ; Induction Chemotherapy ; Leukemia, Myeloid, Acute ; diagnosis ; drug therapy ; Male ; Middle Aged ; Prognosis ; Retrospective Studies

OBJECTIVETo explore the specialty of diagnosis and surgery of tight carotid stenosis.

METHODFrom January 2000 to December 2009, 53 patients with tight carotid stenosis (> 95%) were operated on. All 53 patients had tight carotid stenosis more than 95% on one side in whom 28 had contralateral carotid stenosis or occlusion. The clinical and imaging data as well as surgical outcomes of the patients were retrospectively analyzed.

RESULTSForty-five patients had postoperatively done well without any complications. There were 3 cases of hemodynamic instability and one case of cardiac ischemia which resolved in one to two days. One patient developed mild hoarseness. One complicated with bacteremia due to deep vein catheter insertion. Two patients experienced brain hemorrhage. None of this series occurred perioperative brain ischemia.

CONCLUSIONSTight carotid stenosis indicates a need for expeditious carotid endarterectomy with very low rates of brain ischemia. Intraoperative shunting is seldom necessary. Postoperative hyperperfusion syndrome and brain hemorrhage should be worried. Micro-endarterectomy can effectively prevent from restenosis.

Adult ; Aged ; Carotid Stenosis ; diagnosis ; surgery ; Endarterectomy, Carotid ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Stents

CALLG2008 Protocol is sequential chemotherapy for adult acute lymphoblastic leukemia (ALL) established by Collaborative Group of adults acute lymphoblastic leukemia. It is emphasized that comprehensive treatment of adult ALL according to risk stratification is rather important. This study was purposed to evaluate the therapeutic efficacy of CALLG2008 for adult ALL. The clinical data of adult ALL patients of ≥ 14 years old diagnosed and treated by CALLG2008 Protocol were collected from May 1, 2009 to December 31, 2011 in Fujian Medical University Union Hospital, and the efficacy was analyzed. The results showed that 31 out of 33 cases of ALL achieved CR, the CR rate was up to 93.9%, the PR rate was 3.1%, and the total response rate was 97%. There were no uncontrolled severe toxicities, and no early deaths were observed. The overall survival (OS) at 1 year was only 66.7%,the relapse rate was 43.8% and the 1-year mortality was 33.3 %. This may be related with no-enough compliance, no-enough economical support and short follow-up time of the patients. The risk factor analysis showed that WBC level in newly diagnosed patients may influence the OS and relapse-free survival (RFS) of ALL. It is concluded that CALLG2008 protocol applied to adult ALL has a high remission quality and low mortality rate during the induction. The disease free survival (DFS) needs to be observed longer. It is essential to carry out MRD monitoring to determine the early recurrence and improving the long-term efficacy.
Adolescent ; Adult ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; drug therapy ; Retrospective Studies ; Treatment Outcome ; Young Adult

OBJECTIVETo investigate the techniques and effect of extradural approach for the resection of trigeminal schwannomas involving the cavernous sinus.

METHODSTwenty-three patients (range 26-63 years, mean age 46.2 years) with trigeminal schwannomas involving the cavernous sinus treated by middle fossa extradural approach were retrospectively analyzed. Frontotemporal orbitozygomatic extradural approach was performed in 2 patients. Frontotemporal zygomatic extradural approach was carried out in 21 patients. The first follow-up visit was on the 3rd month after surgery, and if residual was observed on enhanced MRI, then the patient was followed up every 6 months; otherwise, the patient was followed up every 8-12 months.

RESULTSThe length of hospital stay after surgery was 7-13 days (mean 8.5 days). Two tumors originated from the ophthalmic branch, 2 from the maxillary branch, 5 from the mandibular branch and 14 from the gasserian ganglion. Total resection was achieved in 21 of the 23 patients (91.3%) and subtotal resection in the other 2 patients. All the patients were followed up from 3 months to 4 years. Median follow-up time was 19 months. The most common symptom was facial hypoesthesia, occurring in 18 patients. This symptom improved in 10 patients and worsened in 8 patients after surgery. New postoperative facial hypoesthesia was observed in 2 patients. Facial pain was observed in 3 patients and subsided after surgery. Two patients had loss of hearing, this symptom improved in 1 patient and worsened in 1 patient after surgery. Diplopia was observed in 6 patients. In 1 of these 6 patients, diplopia resulted from palsy of the oculomotor nerve. In the other 5 patients, diplopia resulted from palsy of the abducens nerve. This symptom improved postoperatively in all these 6 patients. New postoperative atrophy of the temporalis muscle was observed in 3 patients. There was no operation-related mortality. Tumor recurrence was only found in 1 patient after 24 months and was treated by Gamma knife.

CONCLUSIONSThe middle fossa extradural approach may be an ideal option for the resection of trigeminal schwannomas involving the cavernous sinus. This approach produces no further impairment, less complication, and is less likely to injured the trigeminal nerve, abducens nerve, trochlear nerve and internal carotid artery.

Adult ; Cranial Nerve Neoplasms ; surgery ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Neurilemmoma ; surgery ; Neurosurgical Procedures ; methods ; Retrospective Studies ; Trigeminal Nerve Diseases ; surgery

OBJECTIVETo conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.

METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.

RESULTSThe C1494T mutation did not appear in all cases except for the positive control.

CONCLUSIONIncidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.

Adolescent ; Aminoglycosides ; adverse effects ; Anti-Bacterial Agents ; adverse effects ; Asian Continental Ancestry Group ; genetics ; Child ; China ; DNA, Mitochondrial ; genetics ; Female ; Hearing Loss ; chemically induced ; ethnology ; genetics ; Humans ; Male ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA, Ribosomal ; genetics

OBJECTIVE: To summarize and analyze the clinical characteristics of primary hyperpara-thyroidism (PHPT) with normocalcemic parathormone elevation (NPE) after surgical treatment, so as to improve the therapeutic ability and standardized post-operative follow-up of PHPT patients. METHODS: Nine patients who were diagnosed with PHPT in the Department of Endocrinology of China-Japan Friendship Hospital from August 2017 to November 2019 were selected as the subjects. They all developed NPE within 6 months after surgical treatment. The clinical features and outcomes were collected and analyzed retrospectively, in addition, the related literature was reviewed. RESULTS: Clinical features: among the 9 patients, 6 were middle-aged and elderly females and 3 were male. The main clinical manifestations were bone pain, kidney stones, nausea and fatigue except for one case of asymptomatic PHPT. Pre-operative examination showed high serum calcium [(3.33±0.48) mmol/L], low serum phosphorus [0.76 (0.74, 0.78) mmol/L], high 24-hour urinary calcium [8.1(7.8, 12.0) mmol/24 h], obviously elevated intact PTH [(546.1±257.7) ng/L], vitamin D deficiency [25-hydroxyvitamin D₃ (21.0±5.7) nmol/L]. Serum levels of bone alkaline phosphatase [7 patients 41.3(38.6, 68.4) μg/L, 2 patients >90 μg/L] and N-terminal midcourse osteocalcin (>71.4 μg/L) were significantly elevated. The estimated glomerular filtration rate decreased in 2 patients. Imaging examination: 7 patients had osteoporosis. Renal calculi were found in 3 patients by renal ultrasound. Imaging examination of parathyroid glands found definite lesions in all the patients, including 2 cases of multiple lesions and 7 cases of single lesions. TREATMENT AND OUTCOME: two patients underwent parathyroidectomy, while other patients were treated with microwave thermal ablation. PTH increased 1 month after therapy [(255.0±101.4) ng/L], and no recurrent lesions were found by parathyroid ultrasound. After combined treatment with cal-cium and vitamin D for six months, PTH decreased significantly and the level of serum calcium remained normal at anytime during the follow-up period. CONCLUSION The occurrence of postoperative NPE may be related to the higher pre-operative PTH, vitamin D deficiency and lower creatinine clearance. However, NPE may not predict recurrent hyperthyroidism or incomplete parathyroidectomy. Adequate calcium and vitamin D supplementation after surgery seems to be beneficial for patients with NPE. Post-operative follow-up of PHPT patients should be standardized to prevent and treat post-operative NPE.
Aged ; Calcium ; China ; Female ; Humans ; Hyperparathyroidism, Primary/surgery* ; Male ; Middle Aged ; Parathyroid Hormone ; Parathyroidectomy ; Retrospective Studies