Ocular surface disorders can be caused by the drug-derived toxicity,adverse effect and abuse of eye drops,and usually these disorders present with unspecific and untypical clinical findings.So the eye abnormality induced by topical administration of eye drops often is confused with some corneal inflammatory diseases.In addition,pathogenic mechanisms vary widely due to the different types of eye drops.Therefore,difficulty of diagnosis and poor curative effect often is a challenge for us.Ophthalmologist should be aware of the toxicity derived eye drops on ocular surface.Several noticeable problems of diagnosis and treatment of drug-derived keratopathy were elaborated in this paper.

Objective To report the clinical and magnetic resonance imaging(MRI)features of 5 eases with idiopathic orbital myositis.Methods Four females and one male,aged 27 to 57 years,presented department of neurology in the First Hospital of Peking University in October 2008 to September 2009.The duration of disease Was between 3 months and 4 years.Recurrent course appeared in 3 of them.0rbital MRI Was performed in all of them.After diagnosis they underwent long.term corticosteroid treatment.Results All patients presented ocular pain,asymmetrical and incomplete ophthalmoplegia and mild proptosis.EMG revealed no significant decline in repetitive stimulation.Muscle biopsies of limb muscle were unremarkable.Creatine kinase and thyroid function test were in normal limits.MRI revealed unilateral.focal or difluse enlargement and enhancement of extraocular muscles,involving 1 extraocular muscle in 2 cases,2extraocular muscles in 2 cases,more extraocular muscles in 1 case.No evidence indicated bone destruction or cavernous sinus abnormalities.Five Cases showed improvement and remission after long-term administration of steroids.Conclusion Persistent and asymmetrical ophthalmoplegia is connnon in orbital myositis.Extraocular muscle swelling characterized the MRI changes.

Objectives To report the clinical and myopathological features in a case with Danon disease caused by a novel mutation in the lysosome-associated membrane protein-2 ( LAMP2 ) B gene.Methods A 16-year-old boy presenting progressive muscle weakness and atrophy, accompanied with spinal ankylosis was clinically evaluated including electrocardiogram, echocardiogram and electromyogram.Muscle biopsy was carried out in the patient.The histological staining, ultrastructural examination, and immunohistochemical staining with antibodies against dystrophin, merosin and C5b9 were performed in frozen sections.LAMP2B sequence was analyzed in the patient and his parents.Results Electrocardiogram in the patient showed Ⅰ atrioventricular block; echocardiogram revealed focal hypertrophy in mitral valve with mild cardiac diastolic dysfunction; electromyogram indicated myogenic and neurogenic patterns.Muscle pathology study revealed numerous vacuoles located at the fibers.Dystrophin, merosin and C5b9 was immuno-positive around the vacuoles.Electron microscopy revealed vacuoles surrounded by sarcolemma and abnormal lysosome aggregating at the fibers.A novel nonsense mutation ( K402X ) in the LAMP2B gene has been identified in the patient but not in his mother and 50 normal controls.Conclusions Danon disease caused by K402X mutation in C-terminus of LAMP2B presented benign course of the disease characterized by prominent vacuolar skeletal myopathy, mild cardiac abnormalities and peripheral neuropathy.

Adult ; Diatomaceous Earth ; adverse effects ; Female ; Humans ; Occupational Exposure ; adverse effects ; Pneumoconiosis ; etiology

46, XY Disorders of Sex Development ; complications ; genetics ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Middle Aged ; Ovarian Neoplasms ; pathology ; surgery ; Sex Chromosomes ; Sex Cord-Gonadal Stromal Tumors ; pathology ; surgery

OBJECTIVETo observe the correlation between constitution of yin deficiency syndrome (YDS) and polymorphism of HLA-DQA1/treatment response of Peg-lFNalpha therapy in HBeAg positive chronic hepatitis B (CHB) patients, and to explore constitution of Chinese medicine (CM) in response of interferon therapy.

METHODSTotally 120 HBeAg positive CHB patients who were treated with Peg-IFNalpha were enrolled, and assigned to YDS group (59 cases) and non-YDS group (61 cases) according to classification of CM constitutions. All patients were subcutaneously injected with Peg-IFNalpha-2b (1.0 microg/kg body weight) or Peg-IFNalpha-2a (180 microg), once per week. Effective efficacy was primarily judged when complete response (CR) or partial response (PR) was obtained at month 6. Those with CR or PR completed 1 year therapeutic course. HLA-DQA1 gene types were detected by polymerase chain reaction sequence specific primers (PCR-SSP). The distribution difference of CM constitutions in patients with CR or PR and their inter-group HLA-DQA1 allele frequency were compared.

RESULTSDifferent treatment responses of Peg-IFNalpha were observed in CHB patients of two different CM constitutions. The ratio of CR + PR was 61.0% (36/59) in YDS group, obviously lower than that in NYDS group [78.7% (48/61), P < 0. 05]. Patients with CR had a lower allele frequency of HLA-DQA1 * 0501 than those with no-response [14.8% (8/54) vs. 30.6% (22/72)] with statistical difference (P < 0.05). Patients with CR had a higher allele frequency of HLA-DQA1 * 0601 than those with no-response [18.5% (10/54) vs. 5.6% (4/72)] with statistical difference (P < 0.05). The allele frequency of HLA-DQA1 * 0301 was lower in YDS group than in non-YDS group [2. 5% (3/118) vs. 9.8% (12/122)] with statistical difference (P < 0.05). The allele frequency of HLA-DQA1 * 0501 was higher in YDS group than in non-YDS group [33.9% (40/118) vs. 18.9% (23/122)] with statistical difference (P < 0.05). Yet statistical significance was lost after adjustment (Pc > 0.05 for both).

CONCLUSIONSBoth constitutions of CM and HLA-DQA1 gene polymorphism af- fect HBeAg positive CHB patients' response to Peg-INFalpha. Constitutions of YDS and HLA-DQA1 * 0501 was not favorable to response, their association needed to be further studied.

Antiviral Agents ; therapeutic use ; Gene Frequency ; HLA-DQ alpha-Chains ; genetics ; Hepatitis B e Antigens ; blood ; Hepatitis B, Chronic ; drug therapy ; genetics ; Humans ; Interferon-alpha ; therapeutic use ; Medicine, Chinese Traditional ; Polyethylene Glycols ; therapeutic use ; Polymorphism, Genetic ; Recombinant Proteins ; therapeutic use ; Remission Induction ; Yin Deficiency ; genetics

Adult ; Brain Diseases ; chemically induced ; Ethylene Dichlorides ; poisoning ; Female ; Humans ; Male ; Middle Aged ; Occupational Diseases ; chemically induced

Tongluo Xingnao effervescent tablet (TLXNET) is a patented prescription, which comes from modified Xionggui decoction and can improve cognitive function. However, its effect on the urine metabolites and anti-dementia mechanism in the dementia model rats induced by hippocampal injection with Aβ25-35 remains unclear. The experiment focused on the changes in trajectory and inter-relationship among the urinary metabolite of rats in the blank group, Aβ25-35 hippocampal injection dementia model group and the TLXNET intervention group, in order to determine theirs characteristic metabolic markers and explain the anti-dementia effect of TLX-NET base on the change of metabolic trajectory of these bio-markers. According to the experimental results, 5, 6-indolequinone, 4-hydroxyphenyl pyruvic acid (4-HPPA), cortisol and 3-thiosulfate lactic were preliminarily identified as the characteristic metabolic markers. They mainly participate in dopamine system, glucocorticoids and energy metabolic pathways. TLXNET can apparently downregulate the disturbances of metabolic trajectory of the four bio-markers. The experiment indicates that the dementia model induced by injecting Aβ25-3 into hippocampus has its characteristic endogenous metabolic markers in urine, and ELXNET can ameliorate dementia by down-regulating the disturbances of metabolic trajectory.
Amyloid beta-Peptides ; metabolism ; toxicity ; Animals ; Biomarkers ; urine ; Dementia ; drug therapy ; urine ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Hippocampus ; drug effects ; metabolism ; Humans ; Male ; Metabolomics ; Peptide Fragments ; metabolism ; toxicity ; Rats ; Rats, Sprague-Dawley ; Tablets ; administration & dosage ; Urine ; chemistry

Pig copper zinc superoxide dismutase (CuZnSOD) is an important antioxidant enzyme. Some studies focused on the function of CuZnSOD gene, but the transcriptional regulation of the CuZnSOD gene is not yet fully elucidated. Therefore, the aims of the study were to determine the core promoter region and to explore its mechanism of transcriptional regulation. The 853 bp DNA sequence of 5'-flanking promoter was amplified by performing PCR. A series of CuZnSOD promoter fragments with gradually truncated 5'-end were produced by nested PCR and inserted into pGL3-Basic vector. The activities of the promoters were measured by the dual-luciferase assay system after transient transfection into the NIH/3T3 cells. The results demonstrated that there were 2 potential transcription start sites in the regions from initiation codon to -87 bp and -266 bp, respectively. The region from -383 bp to +67 bp in CuZnSOD gene promoter showed higher activity than other regions, and further deletion analysis demonstrated that the region from -75 bp to -32 bp contained an essential promoter sequence for pig CuZnSOD gene transcription. In addition, several potential transcription factor binding sites were predicted with bioinformatics method. These results suggest that these transcription factor binding sites may be involved in the transcriptional regulation of CuZnSOD gene.
Animals ; Cloning, Molecular ; Gene Expression Regulation ; Genetic Vectors ; Mice ; NIH 3T3 Cells ; Promoter Regions, Genetic ; Superoxide Dismutase ; genetics ; Swine ; Transfection

Objective The aim of this study was to investigate the relationship between phosphotyrosine interac-tion domain containing 1 ( PID1 ) gene and variation in intramuscular fat ( IMF ) content and the possibility to generate transgenic animals by testicular injection .Methods Expression vector pIRES2-acGFP-PID1 carrying pig PID1 gene was incubated with transfection reagents and injected into the testes of male New Zealand rabbits .We examined the F1 genera-tion by fluorescence detection , PCR, Western blotting and measuring the IMF content .The F1 generation gave birth to the F2 generation.Then we examined the F2 generation through detecting the positive rate and the IMF content .Results The exogenous PID1 gene and fluorescent protein gene were expressed at different levels both in the F 1 generation and the F2 generation, and the positive rates were 35.88%and 34.33%, respectively.The IMF content was significantly elevated (P<0.05) in the transgenic positive individuals compared with the negative ones and the control group , and the PID1 protein expression was similarly higher .Conclusions The results of this study demonstrate that PID 1 gene affects intramuscular fat content significantly .Moreover, the results of our analysis provide further evidence that transgenic animals can be gener -ated by testicular injection , and the exogenous gene can be inherited steadily .