BACKGROUNDSpinocerebellar ataxia type 7 (SCA7) is known as an autosomal dominant cerebellar ataxia; patients with genetically confirmed diagnoses of SCA7 have increased rapidly in recent years. However, SCA7 is a rare subtype of SCA, and most data available about SCA7 are those of white people. The aim of the present study was to systematically review the prevalence and clinical and genetic aspects of SCA7 patients in East Asian population.

METHODSA search for publications on SCA7 was performed by using the "PubMed" database with the published language limited in English. Publications mainly focusing on the prevalence of SCA7 in patients with SCA and the clinical and genetic features of SCA7 patients were fully reviewed and analyzed.

RESULTSThe prevalence of SCA7 in SCA patients ranged from 0 to 7.7%, which was similar to those reported previously. The clinical manifestations were typically present at the 30's of its victims (median, 29 years; interquartile range (IQR), 19.5-36.5 years), and the symptoms appeared 15 years ((15.17+/-4.22) years) earlier on average in the offspring than in the parents. Gait ataxia and visual impairment were both found in all patients of whom the clinical features were described. Mutant SCA7 alleles contained 40-100 CAG repeats, with a median of 47 repeats (IQR, 44.5-50.0); and the offspring had 13 more repeats on average compared with their parents (12.62+/-19.03). A strong negative correlation was found between CAG repeat size and the onset age of patients (r=-0.739, P=0.000). In addition, no significant difference was found in CAG repeat sizes between patients with visual impairment as the initial symptom and those with gait disturbance as their initial symptom (P=0.476).

CONCLUSIONSThe prevalence of SCA7 in SCA patients, the age at onset and CAG repeats of SCA7 patients in East Asia are consistent with those of white people. However, larger population study is needed to assess the correlation between the CAG repeat size and initial symptoms of SCA7 patients in East Asia.

Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Far East ; Female ; Humans ; Male ; Middle Aged ; Spinocerebellar Ataxias ; epidemiology ; genetics ; Young Adult

Alcoholism is caused by a complex interaction between genetic and environmental factors. Findings obtained from several studies indicate that some tissue damage occurring in alcohol abusers is due to the generation of reactive oxygen species during the ethanol metabolism The objective of this study was to examine the associations between the polymorphisms of glutathione S-transferase (GST) M1 and T1 genes and Korean male patients with alcoholism. We investigated the distribution of deletion of GSTM1 and GSTT1 in Korean male patients diagnosed with alcoholism (n=133) and Korean male control subject without alcoholism (n=91) with polymerase chain reaction (PCR) method. GSTM1 showed significant associations with alcoholism susceptibility (p=0.0002). But GSTT1 showed no significant associations (p=0.0948). In combined analysis, both gene deletion and GSTM1 deletion were associated with alcoholism (p<0.0001 and p<0.0150). These results suggest that GSTM1 gene deletion might play an important role in risk for alcoholism.
Alcoholism ; Ethanol ; Gene Deletion ; Glutathione Transferase ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Reactive Oxygen Species

AIMTo separate and identify the chemical constituents of the aril of Torreya grandis cv. Merrilli.

METHODSThree lignins were isolated by chromatography and their chemical structures were elucidated by IR, EI-MS, 1HNMR, 13CNMR, DEPT and 2D-NMR spectral methods.

RESULTSThree lignins were identified as pinonesinol, dihydrodehydrodiconiferylalcohol and (7,8-cis-8,8'-trans)-2',4'dihydroxyl-3, 5-dimethoxy-lariciresinol.

CONCLUSIONThese compounds were isolated from this plant for the first time, and compound III is a new compound.

Fruit ; chemistry ; Furans ; chemistry ; isolation & purification ; Lignin ; analogs & derivatives ; chemistry ; isolation & purification ; Molecular Conformation ; Molecular Structure ; Plants, Medicinal ; chemistry ; Taxaceae ; chemistry

OBJECTIVETo investigate bcl-6 protein expression and gene rearrangement patterns in diffuse large B-cell lymphoma (DLBCL) and their clinicopathologic significance.

METHODSImmunohistochemical studies for bcl-6 and CD10 proteins were performed on 51 cases of DLBCL paraffin-embedded tissues (including 22 nodal samples and 29 extranodal samples) and 10 cases of reactive lymphoid hyperplasia (RLH) paraffin-embedded tissues. Interphase fluorescence in-situ hybridization (FISH) with dual color breakapart probe was also used to identify rearrangement of bcl-6 gene in 32 cases of nodal DLBCL tissues (including 22 paraffin-embedded samples and 10 fresh samples) and 5 cases of RLH paraffin-embedded tissues.

RESULTS(1) The rates of bcl-6 protein expression in nodal DLBCL, extranodal DLBCL and RLH were 72.7% (16/22), 75.9% (22/29) and 100.0% (10/10) respectively. The rates of CD10 expression were 40.9% (9/22), 41.4% (12/29) and 100.0% (10/10) respectively. All lymphoma samples which expressed CD10 also showed co-expression of bcl-6 protein. (2) The co-expression of bcl-6 and CD10 was observed in 40.9% (9/22) nodal DLBCL and 41.4% (12/29) extranodal DLBCL. Low clinical stage (stage I and II) was more frequently observed in cases with co-expression of bcl-6 and CD10 (P < 0.05). (3) The rates of bcl-6 gene rearrangement in nodal DLBCL was 28.1% (9/32), with 27.3% (6/22) in paraffin-embedded tissues and 30.0% (3/10) in fresh tissues. There was no statistically significant difference found between the two groups (P > 0.05). Bcl-6 gene rearrangement was not found in all the 5 cases of RLH, and there was a significant difference between RLH and DLBCL (P < 0.05).

CONCLUSIONSThe rate of bcl-6 protein expression is high in DLBCL cases, and the detection of bcl-6 and CD10 protein co-expression may help in the diagnosis and differential diagnosis of DLBCL. Those DLBCL cases with co-expression of bcl-6 and CD10 may also have a better prognostic implication. On the other hand, bcl-6 gene rearrangement can be identified by interphase FISH with dual color breakapart probe in both paraffin-embedded and fresh lymphoma tissues.

Diagnosis, Differential ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, B-Cell ; genetics ; metabolism ; pathology ; Lymphoma, Large B-Cell, Diffuse ; genetics ; metabolism ; pathology ; Male ; Middle Aged ; Neoplasm Staging ; Neprilysin ; metabolism ; Proto-Oncogene Proteins c-bcl-6 ; genetics ; metabolism ; Pseudolymphoma ; genetics

OBJECTIVETo observe the optimal timing of operation and the therapeutic effect of endoscopic optic nerve decompression for traumatic optic neuropathy (TON).

METHODSThe clinical records of 90 consecutive patients with TON (93 eyes) after head and/or maxillofacial trauma from April 1998 to March 2007 were reviewed and analyzed. All patients were either unresponsive or intolerant to medication before they underwent intranasal endoscopic optic nerve decompression. The time interval between the injury and operation ranged from one day to 97 days (median 5.5 days). Among the 93 eyes, there were 71 eyes with no visual acuity before operation and 22 eyes with residue visual acuity, including light perception in 1 eye, hand movement in 5 eyes, counting fingers in 13 eyes, 0.04 in 1 eye, and 0.1 in 2 eyes. Duration of follow-up ranged from 6 days to two years (median 8 days).

RESULTSAfter decompression, 35 patients (36/93 eyes, 38.7%) showed improvement of visual acuity, 53 patients (55 eyes, 59.1%) remained the same as before operation, while 2 patients (2 eyes, 2.2%) showed decreased visual acuity. Among patients with visual acuity beyond light perception before decompression, 68.2% of them (15/22 eyes) experienced visual improvement, whereas only 22.9% (8/35 eyes, 0.02 in two eyes) among patients who lost visual acuity immediately after injury, and 36.1% (13/36 eyes, 0.02 in five eyes) among those who lost visual acuity gradually after injury. There was a significant difference in visual improvement between group with visual acuity and group with no visual acuity (chi(2) = 11.864, P < 0.01). Among patients with no visual acuity, 41.2% of those (7/17 eyes) who underwent operation within 3 days of injury, experienced improvement in visual acuity, compared with 25.9% (14/54 eyes) for those who underwent the operation more than 3 days after injury. It was indicated that no significant difference in visual improvement between these two groups (chi(2) = 1.46, P > 0.05). When comparing different sites of fracture, the effect of surgery was the most desirable (55.6%, 10/18 eyes improved) if the fracture occurred simultaneously in both exterior and interior walls of optic canal, followed by the interior wall fracture (45.7%, 21/46 eyes). The operation was less effective if there was no fraction (20%, 4/20 eyes) or if the fracture occurred in exterior wall alone (11.1%, 1/9 eyes).

CONCLUSIONSEndoscopic optic nerve decompression is a minimally invasive procedure with no adverse cosmetic effects. Early operation is recommended for saving vision, even though visual acuity is lost immediately after injury. However, the satisfactory clinical effects of endoscopic optic nerve decompression require further study.

Adolescent ; Adult ; Child ; Decompression, Surgical ; methods ; Endoscopy ; Female ; Humans ; Male ; Middle Aged ; Neurosurgical Procedures ; Nose ; surgery ; Optic Nerve Injuries ; surgery ; Treatment Outcome ; Young Adult

OBJECTIVEAIM To establish a drug screening model based on transcriptional regulation of estrogen responsive element (ERE) and use it to screen compounds for discovering new ligands of estrogen receptor (ER) subtypes.

METHODA recombinant reporter vector pERE-TAL-SEAP was constructed by inserting a synthetic sequence composed of five tandem copies of EREs upstream of promoter of the reporter vector pTAL-SEAP. The pERE-TAL-SEAP and the internal control plasmid pCMV were transiently co-transfected into Hela cells expressing ER subtype or ER subtype, and the effects of pure ER agonists 17estradiol, phytoestrogen genistein and pure ER antagonist ICI182, 780 on reporter gene SEAP expression were observed.

RESULTIn the Hela cells expressing ER alpha or ER beta subtype, the expression of SEAP gene were induced in a dose dependent manner by 17-estrodiol with a maximal effect at approximately 10 nmol.L-1 and with EC50 of (80.58 +/- 8.51) pmol.L-1 and (103.90 +/- 5.29) pmol.L-1, respectively, so done by phytoestrogen genistein with a maximal effect at 1 mumol.L-1 and with EC50 of (10.86 +/- 0.75) nmol.L-1 and (39.38 +/- 2.26) nmol.L-1, respectively. The maximal level induced by estrodiol and genistein were about 7-14 fold higher than that of vehicle. The pure antiestrogen ICI182, 780 at concentration of 1 mumol.L-1 completely blocked the inductions of 17-estrodiol and genistein.

CONCLUSIONThe cellular drug screening model can be established by transfecting reporter vector pERE-TAL-SEAP in Hela cell lines expressing ER alpha or ER beta. The cell lines can be used to screen compounds with estrogenicity by testing SEAP activity in the culture media of cells growing in microtitier wells. The system should provide an efficient model for screening and analyzing the activity of large numbers of ligands of ER.

Drug Evaluation, Preclinical ; methods ; Estradiol ; pharmacology ; Estrogen Receptor alpha ; Estrogen Receptor beta ; Gene Expression Regulation ; drug effects ; Genes, Reporter ; Genistein ; pharmacology ; HeLa Cells ; Humans ; Ligands ; Promoter Regions, Genetic ; Receptors, Estrogen ; genetics ; Transfection

OBJECTIVETo discuss the clinical manifestations, therapeutic strategy and prognosis of patients with severe acute respiratory syndrome (SARS) older than 60 years.

METHODSElderly patients diagnosed as SARS in Peking Union Medical College Hospital were compared with younger patients.

RESULTSTwenty-four elderly patients and 53 younger patients were analysed. Elderly patients had more coexisting conditions, such as hypertension, diabetes, coronary heart disease, and renal disease than control group (P < 0.05). Rate of respiratory failure in elderly patients was higher than that in control group (P < 0.05). Elderly patients had more respiratory symptoms, such as cough, sputum, and shortness of breath (P < 0.05). Rate of lymphocytopenia and thrombocytopenia in elderly patients was higher than that in control group. All patients were given ribavirin and antibiotics. More patients in elderly group were given 3rd generation cephalosporin and imipenem. Mortality rate in elderly group was higher than that in control group (33.3% vs 3.8%, P < 0.05). Univariate analysis showed that age, respiratory failure, and thrombocytopenia were risk factors of death, but logistic analysis did not find any independent risk factor.

CONCLUSIONSThough the elderly patients have a lower morbidity of SARS, they have more coexisting conditions. The therapy of elderly patients is more difficult than that of control group, and the mortality in elderly patients is high.

Age Factors ; Aged ; Antiviral Agents ; therapeutic use ; Diabetes Complications ; Female ; Humans ; Hypertension ; complications ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Ribavirin ; therapeutic use ; Risk Factors ; Severe Acute Respiratory Syndrome ; complications ; diagnosis ; drug therapy

Rabdosia japonica(Burm.f.) Hara var.glaucocalyx(Maxim.) Hara is a traditional Chinese medicine, and is known to have anti-tumor effects. This study aims to investigate the effect of glaucocalyxin A (GLA), a diterpenoids extracted from Glaucocalyx Hara, on apoptosis of glioma cells and its mechanism. This study investigated the molecular signaling mechanism of GLA-induced glioma cell apoptosis by analyzing survival rate of C6 rat glioma cells, cell morphology, colony formation ability, interference ribonucleic acid, polymerase chain reaction, and Western blot. The result showed that in the presentce of GLA, the survival rate of C6 rat glioma cells decreased significantly, while the expression of guanine nucleotide-exchange factor-H1 was up-regulated, causing phosphorylation of extracellular regulated protein kinases proteins and apoptosis. Hence, the mechanism of GLA-induced glioma cell apoptosis was the GEF-H1/ERK pathway.

OBJECTIVETo evaluate the long-term effect of sodium glycididazole (CMNa) as a hypoxic radiosensitizer on the radiotherapy for nasopharyngeal carcinoma.

METHODSBetween May 1999 and May 2002, 211 patients with pathologically confirmed nasopharyngeal carcinoma were randomized into group-A treated by radiotherapy plus CMNa or group-B by radiotherapy alone. The staging was determined according to 92' Fuzhou staging systerm. The type, procession and dosage of radiotherapy were identical in both groups. The early adverse effect grade was assessed based on the CTC2.0 criteria and the late adverse effects were evaluated according to the RTOG/EORTC criteria. The median follow-up time was 52 months. All the data was analyzed by the SPSS 13.0 software. Characteristics and adverse events of these patients were compared between the two groups using t-test and the Wilcoxin rank sum test. Time-to-event curves were estimated using the Kaplan-Meier method. The prognostic parameters were analyzed using univariate analysis and the Cox multivariate regression analysis.

RESULTSThe clinical data of the two groups were comparable. The 3-year survival was 88.4% in group-A, while 75.2% in group-B, with a statistically significant difference between two groups (P = 0.010). Univariate analysis showed that the 3-year survival was statistically correlated with N-staging ((N0-1, 86.9%, N2-3 73.8%, P < 0.001), T-staging (T1-2 85.6%, T3-4 79.3%, P = 0.014), TNM staging (P = 0.039), and whether using CMNa or not during rediotherapy (Group-A 88.4%, Group-B 75.2%, P = 0.010). The 5-year recurrence-free survival, 5-year metastasis-free survival and 5-year overall survival were 75.8%, 74.9% and 77.7% in Group-A, while 63.0%, 63.0% and 62.4% in Group-B with a statistically significant difference between two groups (0.013, 0.022 and 0.010, respectively). If stratified in the subgroups, the overall survival of stage III - IV patients was statistically different between group A and B (P = 0.009), however, not of stage I - II patients (P = 0.502). Cox multivariate regression analysis showed that the independent prognostic parameters for survival were N-stage (RR = 3.288) , T-stage (RR = 2.147) and use of CMNa during rediotherapy (RR = 0.407). However, there was no statistically significant difference between two groups in acute or late adverse effects on nervous system or heart, which suggested that use of CMNa during radiotherapy would not aggravate the toxicity caused by radiotherapy.

CONCLUSIONSodium glycididazole is well tolerable effective as a hypoxic radiosensitizer, which can improve the efficacy of radiotherapy and the long-term result of nasopharyngeal carcinom a patients, especially for the stage III - IV patients.

Adolescent ; Adult ; Aged ; Female ; Follow-Up Studies ; Humans ; Kaplan-Meier Estimate ; Male ; Metronidazole ; adverse effects ; analogs & derivatives ; therapeutic use ; Middle Aged ; Multivariate Analysis ; Nasopharyngeal Neoplasms ; pathology ; radiotherapy ; Neoplasm Staging ; statistics & numerical data ; Prognosis ; Proportional Hazards Models ; Radiation-Sensitizing Agents ; adverse effects ; therapeutic use ; Time Factors ; Treatment Outcome ; Vomiting ; chemically induced

Objective: To investigate the localization methods of supratrochlear artery (STA) and supraorbital artery (SOA), and to explore the clinical benefit of locating nerve via accompanying vascular localization in combined transfrontal and intranasal endoscopic approaches. Methods: From June 2019 to May 2021, 14 patients, including 11 males and 3 females, aging from 18 to 69 years old, were underwent frontal sinus surgery through the combined transfrontal and intranasal endoscopic approaches in the Department of Otorhinolaryngology Head and Neck Surgery of the Third Affiliated Hospital of Sun Yat-sen University. Before the surgery, localization of STA and SOA was determined by color doppler flow imaging (CDFI), computerized topographic angiography (CTA) and contrast enhanced magnetic resonance angiography (CE-MRA) respectively, and the distances between STA and SOA from facial midline were measured on 28 eyebrows. The position of external incision was determined according to the preoperative localization of STA and SOA. The examination time, cost and postoperative complications of the three methods were recorded. The accuracy of localization at 14 sides was verified by the surgery. GraphPad Prism 8.3 software was used for statistical analysis. Results: STA and SOA could be located by CDFI, CTA and CE-MRA. There was no significant difference in the measurement of the distance between STA and SOA from the facial midline among 3 methods (all P>0.05). Determining the position of external incision according to the localization of STA and SOA could protect both the blood vessels and accompanying nerves. No postoperative complications such as numbness of the forehead skin occurred. The measurement time of CDFI, CTA and CE-MRA was 22.50 (15.75, 30.00), 30.00 (28.00, 34.25) and 48.00 (44.00, 52.75) min (M (Q₁, Q₃)), respectively (all P<0.05). CDFI incurred the lowest costs and took the shortest time. Conclusions: CDFI is an efficient and economic localization method. The localization of STA and SOA facilitates the precise selection of the position of external incision, protects the accompanying nerve and reduces postoperative complications.
Adolescent ; Adult ; Aged ; Angiography ; Arteries ; Endoscopy ; Female ; Humans ; Male ; Middle Aged ; Postoperative Complications ; Young Adult