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.

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

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.

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

Objective To investigate the methylation status in the promoter region of Dickkopf-3 (Dkk3) gene in patients with myelodysplastic syndromes (MDS),and to initially explore the relationship between the methylation of this gene and survival time.Methods Methylation-specific PCR (MSP) was applied to measure the promoter methylation of Dkk3 gene in 43 bone marrow or peripheral blood samples of MDS patients.As controls,70 normal peripheral blood samples from general outpatients were examined.Results In 43 patients with MDS,7 patients (16.3 ％) showed Dkk3 gene methylation.And 5 of them were semi-methylation status,2 of them were exhaustive methylation status.In 70 controls,1 showed Dkk3 gene semi-methylation.The frequency of methylation in MDS patients was significantly higher than that of controls (x2 =8.93,P =0.005).In the Dkk3 methylation group,2/7 were from bone marrow and 5/7 were from peripheral blood.Meanwhile,2 patients were RA,1 patient was RCMD,4 patients were RAEB.There was no significant difference between the different sample source (bone marrow or peripheral blood) for the results of the methylation status (x2 =0.051,P =0.821).Either between the different sex,age,type,chromosome and WPSS score (P ＞ 0.05).The progress of disease didn't influence the methylation frequency (P ＞ 0.05).The smvival analysis showed no relationship between the methylation of this gene and smvival time.Conclusions In this MDS group,there is high level of methyl-modification in Dkk3 gene.The methylation of Dkk3 might be one of the molecular mechanisms that contribute to the progress of patients with MDS.The peripheral blood sample maybe a better substitute in detective of Dkk3 with MDS.

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

In order to investigate the mechanism, the correlation between the odor change in Crataegi Fructus stir-fried process and 5-HMF were studied. Required samples were retrieved from Crataegi Fructus stir-fried process. Statistical quality control (SQC) was used to analyze the response values acquired by the electronic nose. At the same time, the content of 5-HMF was detected by high performance liquid chromatography (HPLC). Correlation analysis was used to analyze the relationship between the above two. Experimental results showed that SQC model established by response values of all samples could show the change law of odor in Crataegi Fructus stir-fried process and changes of 5-HMF content was dropped after the first increase. Correlation analysis showed that the odor change in Crataegi Fructus stir-fried process and 5-HMF were significantly correlated (P < 0.05). Sugar degradation reaction and the Maillard reaction may be one of the mechanisms of the odor change in Crataegi Fructus stir-fried process.
Chromatography, High Pressure Liquid ; Crataegus ; chemistry ; Furaldehyde ; analogs & derivatives ; analysis ; Hot Temperature ; Odorants ; analysis ; Plant Extracts ; analysis ; Technology, Pharmaceutical ; methods

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