Objective To report the development of clinical symptoms in a Chinese family with autosomal dominant progressive external ophthalmoplegia(adPEO).Methods Electromyologram and muscle biopsy were performed in the proband and 4 family members with the disease.Results The proband was a 57 year-old woman,who developed bilateral ptosis after the age of 30,external ophthalmoplegia after the age of 35 years old,weakness of extremities at the age of 37 years old and bulb palsy with palmus at the age of 47 years old.In the family there were 20 male and female members from five generations.All of them complained about bilateral ptosis between 26—33 years old,external ophthalmoplegia(12/15)and weakness of all extremities(14/15)between 35—45,facial and masticatory weakness(9/9)as well as dysphagia(8/9)between 44—60,accompanied with heart lesions(4/7)after 50 years old.Some patients died due to cardiac impairment.Electromyologram showed myopathic abnormalities in the examined patients. The main myopathological changes were ragged red fibers,cytochrome c oxidase negative fibers and ragged blue fibers in succinate dehydrogenase staining.Conclusions The adPEO started from extra-ocular muscles to limbs,finally facial and bulbar muscles.Heart lesions were presented in late stage and lead to death in some members.The developing process of symptoms suggested that we should pay more attention to cardiac manifestations in this disease.

Objective To analysis the clinical manifestations of mtDNA A3243G mutation in adulthood.Methods The clinical features were investigated in 36 cases (28 patients from 5 families with the mutation and 8 sporadic cases),in whom mtDNA A3243G mutation was confirmed genetically in 23 cases (15 cases from 5 mutation families and 8 sporadic cases).Cranium radiology was performed in 14 cases.Muscal biopsies were performed in l0 cases.Results Among 28 cases in the 5 family,there were 9 cases (32.1%) with stroke like episodes,17 cases (60.7%) with diabetic mellitus and 16 cases (57.1%) with deafness.Such symptoms usually combined with each other and rarely existed alone. Cardiomyopathy and renal failure were uncommon.In the 23 cases with mtDNA A3243G mutation,14 cases (61.0%) had mitochondria] myopathy,encephalopathy,lactic acidosis,and stroke-like episodes (MELAS),mostly presenting cognitive abnormalities,dysarthria or aphasia and headache,3 cases (13.0%) were asymptomatic carriers,2 cases (8.7%) had autonomic dysfunction,2 cases (8.7%) had diabetic mellitus with or without nerve deafness,1 case (4.3%) had diabetic mellitus with infertilitas and cardiomyopathy,respectively.Cranial radiological images revealed the changes more commonly in the temporal and occipital lobes and less frequently in the frontal lobes.Ragged red fibers were confirmed in 9 of 10 cases with muscle biopsies.The proportion of mutant mtDNA A3243C was not significantly different between MEALS (28.75%?13.69%) and non-MELAS (25.08%?11.54%).Conclusions mtDNA A3243G mutation mainly results in the lesions in the central nerve system,pancreatic island and acoustic nerve in adulthood.Heart and kidney are less frequently involved.Cognitive abnormalities,aphasia and headache are the major symptoms of adult MELAS.Families have with more than 1 patient with diabetic mellitus and deafness,indicating that the mutation is other than MELAS mutation.We should pay more attention to the non-MELAS symptoms in the families with mtDNA A3243G mutation.

OBJECTThe authors studied the influence of CO(2) pneumoperitoneum on intracellular pH and signal transduction arising from cancer cell multiplication in laparoscopic tumor operation.

METHODThey set up a simulation of pneumoperitoneum under different CO(2) pressure, and then measured the variation of intracellular pH (pHi) at different time and the activity of protein kinase C (PKC) and protein phosphatase 2a (PP2a) at the end of the pneumoperitoneum. After 1 week, the concentration of cancer cells in the culture medium was calculated.

RESULTWhen the pressure of CO(2) pneumoperitoneum was 0, 10, 20, 30 mmHg respectively, the average pHi was 7.273, 7.075, 6.783, 6.693 at the end of the pneumoperitoneum; PKC activity was 159.4, 168.5, 178.0, 181.6 nmol/(g.min) and PP2a was 4158.3, 4066.9, 3984.0, 3878.5 nmol/(g.min) respectively. After 1 week, the cancer cells concentration was 2.15 x 10(5), 2.03 x 10(5), 2.20 x 10(5), 2.18 x 10(5) L(-1).

CONCLUSIONCO(2) pneumoperitoneum could promote acidosis in cancer cells, inducing the activation of protein kinase C and deactivation of protein phosphatase 2a, but it could not accelerate the mitosis rate of the cancer cells.

Animals ; Breast Neoplasms ; chemistry ; metabolism ; Carbon Dioxide ; administration & dosage ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Cell Survival ; drug effects ; Enzyme Activation ; drug effects ; Hydrogen-Ion Concentration ; Intracellular Fluid ; chemistry ; Phosphoprotein Phosphatases ; metabolism ; Pneumoperitoneum, Artificial ; methods ; Protein Kinase C ; metabolism ; Protein Phosphatase 2 ; Rats ; Signal Transduction ; drug effects

Adolescent ; Adult ; Aged ; Diagnosis, Differential ; Female ; Humans ; Lymph Nodes ; diagnostic imaging ; Lymphoma ; diagnostic imaging ; pathology ; therapy ; Male ; Middle Aged ; Tomography, X-Ray Computed

The tumor suppressor gene p53 and p16, both of which play an important role in inhibition of tumorigenesis, are homozygously deleted in human myeloid leukemia cell line K562. To explore the inhibition of K562 cell proliferation by wild type p16 and p53 genes, both p16 and p53 genes were co-transfected into K562 cells mediated by liposome. The expression of the two genes was measured by immunocytochemical method, the cell cycle was analysed by flow cytometry, and the number of recovered viable cells was assessed after transfection. After co-transfection, the p53 and p16 positive cells were 23% and 28%, respectively. The results showed that co-transfection of p16 and p53 genes significantly inhibits cell proliferation comparing with transfection either by p16 gene or by p53 gene (P < 0.05). Expression of p16 and p53 proteins increased the cell number in G(1) phase but decreased the cell number in S phase. It is concluded that co-transfection of p16 and p53 genes has a stronger growth-inhibitory effect on K562 cell growth than that of transfection only by p16 gene or by p53 gene, may be a pathway for gene therapy in leukemia.
Cell Division ; Genes, p16 ; physiology ; Genes, p53 ; physiology ; Humans ; K562 Cells ; Plasmids ; Transfection

In order to search for novel inhibitors of Na+/H+ exchanger isoform-1 (NHE-1), nine feruloylagmatine analogues were designed and synthesized from ferulic acid and agmatine. The structures of the synthesized compounds were confirmed by 1H NMR, 13C NMR and mass spectra, among which compounds 5f-5i were novel compounds. The results of preliminary pharmacological test showed that some of the compounds possessed strong NHE-1 inhibitory activity, among which compounds 5a, 5b and 6c were more potent than cariporide in NHE-1 inhibition.
Agmatine ; analogs & derivatives ; chemical synthesis ; chemistry ; pharmacology ; Animals ; Cardiotonic Agents ; chemical synthesis ; chemistry ; pharmacology ; Drug Design ; Female ; Male ; Molecular Structure ; Rats ; Rats, Sprague-Dawley ; Sodium-Hydrogen Exchangers ; antagonists & inhibitors ; Structure-Activity Relationship

OBJECTIVEThe choice of surgical approaches for salvage surgery based on the location and invasion of recurrent and residual lesions of nasopharyngeal carcinoma (NPC), surgical results, complications, and survival were assessed.

METHODSThirty-seven cases with recurrent and residual lesions of NPC underwent salvage surgery between March 1991 and January 2005 were analysed retrospectively. Of 37 patients, 23 were men and 14 women, with a median age of 46.5 years (26 - 57 years); 4 were at stage I, 10 at stage II, 14 at stage III, and 9 at stage IV; 5 cases were with cervical metastasis, including 3 cases of N1 and 2 cases N2. All recurrent and residual lesions of NPC were determined by biopsy. On the location and invasion of recurrent and residual lesions of NPC, 8 cases underwent endoscopic resection of lesions, 12 cases of the palate nasopharyngectomy, 5 cases of maxillary swing, 4 cases of maxillary swing plus prerenal approach, 2 cases of lateral rhinotomy plus coronal flap approach, and 6 cases transfacial plus nasal pyramid swing approach. Five cases with cervical metastasis received neck dissection in addition to the operations for recurrent and residual lesions of NPC. Postoperatively 31 cases received radiotherapy with dosage of 60 Gy, among them 15 cases with concurrent chemoradiation therapy, and 6 cases with clear surgical margin did not received radiotherapy or chemotherapy. The cases were followed up for 12 - 72 months, with a median of 45 months.

RESULTSTotal resection for the recurrent and residual lesions of NPC accounted for 91.8% (34/37) and subtotal resection for 8.2% (3/37). The accident of perioperative complications was 24.3% (9/37). The 3- and 5-year overall disease-free survival rates (DFSR) were 62.1% and 43.3%, respectively. The 3- and 5-year overall survival rates (OSR) were 72.9% and 51.3%, respectively. The 5 year DFSR of cases at stage I-IV were 100%, 40%, 28% and 11% (χ(2) = 10.0, P < 0.01), respectively. The 5 year OSR were 100%, 70%, 35% and 28% (χ(2) = 11.5, P < 0.01), respectively.

CONCLUSIONSSalvage surgery is a justified treatment for the recurrent and residual lesions of NPC, by which some patients with recurrent and residual lesions of NPC can be salvaged.

Adult ; Female ; Humans ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; pathology ; surgery ; Neoplasm Recurrence, Local ; surgery ; Neoplasm Staging ; Neoplasm, Residual ; Prognosis ; Retrospective Studies ; Salvage Therapy ; methods

OBJECTIVETo explore the risk factors for Guillain-Barre syndrome.

METHODSCase-control study design was used in 51 cases of Guillain-Barre syndrome, and 51 matched controls. All of the 51 cases in this study had been examined by electrophysiology. Serum IgG antibodies specific for C. jejuni were determined in all the subjects by ELISA. Each case and control were interviewed using an ad hoc questionnaire, including his/her demographic information, onset of the illness, their personal hygiene and so on.

RESULTSThe study showed that Guillain-Barre syndrome was associated with a few factors, such as polio vaccine immunization before onset of illness (OR=7.27), no hand washing after defecation and before meals (OR=6.15). Infection of C. jejuni was strongly associated with the illness (OR=9.5, P<0.001).

CONCLUSIONIt is suggested that occurrence of Guillain-Barre syndrome may correlate to infection of C. jejuni and poor personal hygiene in children.

Adolescent ; Campylobacter Infections ; complications ; Campylobacter jejuni ; pathogenicity ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Guillain-Barre Syndrome ; epidemiology ; etiology ; microbiology ; Hand Disinfection ; Humans ; Immunoglobulin G ; analysis ; Infant ; Male ; Poliovirus Vaccines ; adverse effects ; Risk Factors

OBJECTIVETo preliminarily explore the effect of combination of volar buttress plate with external fixator for the distal radial fractures of type C3 caused by high-energy injuries.

METHODSFrom January 2001 to June 2007, 13 patients with distal radial fracture of type C3, 9 males and 4 females aged from 26 to 47 (average 37 years), were treated with volar buttress plate combined with external fixator plus the techniques of K-wires and bone grafting as necessary, whose effects were evaluated preliminarily through comparing the volar tilt, radial inclination, radial shortening and wrist function.

RESULTSFollowed up from 7 to 29 months (average 18 months), the volar tilt, radial inclination, radial shortening and wrist function of all patients recovered remarkably. Nine patients achieved excellent and 4 good according to Sarmiento score (modified by Stewart) in the radiological manifestation, while 5 patients displayed excellent, 6 good, and 2 fair according to Gartland-Werley functional assessment system.

CONCLUSION1) Volar buttress plate could support the valor cortex in order to prevent comminuted fragment from displacing and maintain volar tilt and to provide the volar fulcrum for external fixator. 2) External fixator, with the assistance of volar fulcrum, could maintain the volar tilt and the height of distal radius and help unload the fossa. 3) Supplemental K-wires fixation and the bone graft may assist fracture stable.

Adult ; Bone Plates ; External Fixators ; Female ; Fracture Fixation ; Humans ; Male ; Middle Aged ; Radius ; injuries ; surgery ; Radius Fractures ; surgery

OBJECTIVETo report a case of T cell acute lymphoblastic leukemia (ALL) with t(1;19)(q23;pl3) and E2A-PBX1 fusion gene, which is a characteristic translocation of childhood B cell ALL (B-ALL).

METHODSThe chromosome, karyotype, immunophenotype and mRNA for fusion gene of the leukemic cells were examined by cytogenetic analysis, flow cytometry (FCM) and reverse transcriptase PCR (RT-PCR), respectively.

RESULTSThe cytogenetic karyotype of the patient was 47, XY, 9p+, 15p+, 17q-, der(19), t(1;19)(q23;pl3)\[5\]/46, XY\[15\], and E2A-PBX1 was positive. The leukemic cells expressed T cell markers. The patient was induced with hyper CVAD regimen (cyclophosphamide, vincristine, adriamycin, and dexamethasone), and achieved complete remission with normal cytogenetic karyotype 46 XY\[10\], and negative E2A-PBX1.

CONCLUSIONt(1;19)E2A-PBX1(+) can be implicated in adult T-ALL, besides childhood B-ALL.

Adult ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 19 ; genetics ; Homeodomain Proteins ; genetics ; Humans ; Karyotyping ; Male ; Oncogene Proteins, Fusion ; genetics ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; drug therapy ; genetics ; Translocation, Genetic