AIM:To observe the structural basis of ocular motility abnormalities in patients with congenital fibrosis of the extraocular muscles type Ⅰ ( CFEOM Ⅰ) due to missense mutations in the developmental kinesin KIF21A using high - resolution magnetic resonance imaging ( MRI) .
METHODS: Totally 11 affected individuals reported KIF21A mutations were correlated with MRI studies demonstrating extraocular muscles ( EOMs ) size, location, contractility, and innervation. EOMs and the motor nerve in the orbits were imaged with T1 weighted in a triplanar scan using a dual-phased coils with 2. 0mm thick. Motor nerves were imaged at the brainstem using head coils and 3D-FIESTA with 0. 6-mm thick.
RESULTS: Patients with CFEOM Ⅰ exhibited different degrees of hypoplasia of oculomotor nerve, the abducens nerve and the trochlear nerve were also affected, of which 8 cases of orbital section could see the signal of abnormal nerve dominated by oculomotor nerve to lateral rectus. The both sides of six EOMS in all patients exhibited variable atrophy and abnormal bright internal signal on T1 imaging, particularly severe for the superior rectus and levator muscles.
CONCLUSION: High - resolution MRI can directly demonstrate pathology of motor nerves,affected EOMs, and ‘Pulley' hypoplasia caused by CFEOM Ⅰ due to mutations in KIF21A,and these findings suggest that the neuronal hypoplasia is the etiological factor of CFEOM.

Background Granulocyte colony-stimulating factor(G-CSF)has been reported to have beneficial effect on cardiac dysfunction in post infarction and doxorubicin-induced cardiomyopathy.Objective To investigate the effects of G-CSF on cardiac remodeling in cardiac hypertrophy induced by angiotensin Ⅱ(Ang Ⅱ).Methods Thirty-six male wild type mice(WT)were allocated randomly to receive subcutaneously G-CSF(10 ?g/kg per day, n=9),or Ang Ⅱ(2.88 mg/kg per day,n=9),or Ang Ⅱ plus G-CSF(Ang Ⅱ 2.88 mg/kg+G-CSF 10 ?g/kg,n =9)for 4 weeks with untreated WT(n=9)as controls.Blood pressure and cardiac function were measured. Heart weight/body weight ratio,myocyte cross-sectional area and fibrosis area were determined.The mRNA ex- pression of osteopontin(OPN)in myocardium was detected by RT-PCR.The expressions of angiotensin converting enzyme(ACE),ACE2 and phosph-p70S6 kinase protein in myocardium were assessed by Western-Blot.Results Ang Ⅱ significantly elevated blood pressure(SBP,Ang Ⅱ:139.7?1.6 vs WT:108.7?2.3 mmHg,P0.05),but significantly attenuated the myocyte cross-sectional area(Ang Ⅱ+G-CSF:181.06?0.11 vs Ang Ⅱ:202.02?0.16 ?m~2,P

OBJECTIVETo study the train of thoughts and procedures for developing the theoretical framework and the item pool of the peri-operative recovery scale for integrative medicine, thus making preparation for the development of this scale and psychometric testing.

METHODSUnder the guidance for Chinese medicine theories and the guidance for developing psychometric scale, the theoretical framework and the item pool of the scale were initially laid out by literature retrieval, and expert consultation, etc.

RESULTSThe scale covered the domains of physical function, mental function, activity function, pain, and general assessment. Besides, social function is involved, which is suitable for pre-operative testing and long-term therapeutic efficacy testing after discharge from hospital. Each domain should cover correlated Zang-Fu organs, qi, blood, and the patient-reported outcomes. Totally 122 items were initially covered in the item pool according to theoretical framework of the scale.

CONCLUSIONSThe peri-operative recovery scale of integrative medicine was the embodiment of the combination of Chinese medicine theories and patient-reported outcome concepts. The scale could reasonably assess the peri-operative recovery outcomes of patients treated by integrative medicine.

Humans ; Integrative Medicine ; methods ; Intraoperative Period ; Medicine, Chinese Traditional ; Rehabilitation ; statistics & numerical data ; Treatment Outcome

Objective To explore the molecular mechanisms involved in hypokalemic salt-losing tubulopathies ( SLTs) through genetic screening of WNK gene in patients with SLTs. Methods Forty-four kindreds of SLTs were diagnosed Batter's syndrome or Gitelman's syndrome after CLCNKB and SLC12A3 sequencing and analysis, 8 of whose phenotype can not be simply attributed to CLCNKB or SLC12A3 mutations. Primers for PCR-amplified exons of WNK4 and WNK1 gene in genomic DNA were designed, and direct sequencing was performed to analyse the PCR products. Results Two missense mutations of WNK1, Ile~(1172)→ Met (I1172M) and Ser~(2047) → Asn (S2047N), were identified. Both of these 2 mutations segregated with the disease in SLTs kindred. Conclusion Two heterozygote missense mutations of WNK1 gene (I1172 M and S2047N) were found in 8 SLTs kindreds, indicating that WNK1 might be another gene responsible for hypokalemic salt-losing tubulopathies.

AIM: To investigate the relationship between high temperature essential factor A-1(HTRA1) polymorphism and genetic susceptibility of wet age-related macular degeneration (AMD) in Han population. METHODS: Totally 201 patients of wet AMD in Han population were selected from May 2014 to January 2017 in our hospital as disease group,and 201 healthy persons of Han were selected as health group. Blood samples of peripheral vein were collected and genomic DNA was extracted. HTRA1 polymorphism loci were detected,and the rs11200638 and rs2248799 loci of HTRA1 gene were detected by Sequenom mass spectrometry platform. Then the relationship between HTRA1 polymorphism and genetic susceptibility of wet AMD were analyzed. RESULTS: The grade distributions of the genotype of the rs11200638 and rs2248799 loci in the two groups subjects had significant differences (P<0.01), and the frequencies of AA and TT in the disease group were respectively 51.2% and 57.7%,of which the health group were respectively 20. 9% and 28. 4%, and the former were significantly higher than the latter, with significant differences (P<0.01). The frequencies of risk allele A of rs11200638 loci and risk allele T of rs2248799 loci in the disease group were respectively 69.7% and 73.6%, of which the health group respectively were 45. 8% and 52 5%, and the former were significantly higher than the latter, with significant differences (P<0. 01). The OR values of rs11200638 genotype AA and AG were respectively 5.36 and 3.45,which were the risk factors of wet AMD (P < 0. 01). The OR values of rs2248799 genotype TT and TC were respectively 2.36 and 1.98, which were the risk factors of wet AMD (P<0.01). CONCLUSION: The rs11200638 and rs2248799 polymorphisms of HTRA1 gene are associated with the incidence of wet AMD,and the genotype AA and TT are closely related to the risk of wet AMD in Han population, of which the higher frequencies can increase the risk of wet AMD.

Objective To investigate the protective effect and the underlying mechanism of water soluble coenzyme Q10 (CoQ10)against rotenone induced injury on PC12 cells model.Methods PC12 cells were cultured with rotenone,water-soluble CoQ1 0 was added to the culture media 3 hours prior to the rotenone incubation.We determined cell viability by CCK8;reactive oxygen species (ROS)was detected by spectrophotometer;and Bcl-2, Bax,active Caspase-3,Caspase-9 and apoptosis-inducing factor (AIF)were measured by Western blotting after 24-hour rotenone incubation.Results After the treatment by rotenone,cell viability decreased significantly (P＜0.01)and ROS level increased (P＜0.01).CoQ10 could improve PC12 cell viability (P＜0.01)and reduce the level of ROS (P＜0.01).Western blotting experiments showed that CoQ10 could reduce rotenone-induced Caspase-9 (P＜0.05),active Caspase-3 (P＜0.05)and Bax (P＜0.01)expressions,increase the expression of Bcl-2 (P＜0.01),and prevent nuclear translocation of AIF (P＜0.05).Conclusion CoQ10 has a protective effect on rotenone-induced apoptosis in PC12 cells,the mechanism of which may be through scavenging ROS in cells;decreasing caspase-9 ,active caspase-3 and Bax expressions;and increasing the expression of Bcl-2 ;and preventing AIF nuclear translocation.

OBJECTIVETo investigate the molecule mechanism of the anti-fibrotic effects of Chinese herbal drugs (Qidan granules) in rats.

METHODSThe male rats were randomly divided into four experimental groups: normal group, model group, Qidan group, tetrandrine group. Every group had 10 rats. Normal group were treated with physiologic saline while others were treated with silicon dioxide (50 mg/rat) by intratracheal instillation to induce silicosis. On 30th day Qidan group and Tetrandrine group were treated with Qidan granules (3125 mg/kg) or treated with tetrandrine (22 mg/kg) respectively. All the rats were scarified after 5 months. Lung/body coefficient was measured. Content of hydroxyproline was measured by alkaline hydrolysis. The gene expression of transforming growth factor-beta1 in bronchoalveolar lavage fluid was examined by using enzyme-linked immunosorbent assay (ELISA). The gene expressions of transforming growth factor-beta1, transcription factor Smad 3 and Smad 7 in lung were analyzed by using immunohistochemical technique (SP) and the image analysis.

RESULTSModel group mainly had Grade III approximately IV silicotic nodule while Qidan group and tetrandrine group had Grade II silicotic nodule. In Qidan group and tetrandrine group, lung/body coefficient and content of hydroxyproline and expression of transforming growth factor-beta1 and Smad3 in lung and expression of transforming growth factor-beta1 in bronchoalveolar lavage fluid were lower than those in model group (P < 0.05). Expression of Smad 7 in lung was higher than model group (P < 0.05). Injury of kidney occurred in tetrandrine group.

CONCLUSIONQidan granules and tetrandrine could inhibit expression of both Smad 7 and transforming growth factor-beta1 and promote expression of Smad 3. Qidan granules and tetrandrine could inhibit remarkably silicotic fibrosis in rats. Qidan granules are safer than tetrandrine.

Animals ; Benzylisoquinolines ; pharmacology ; Disease Models, Animal ; Drugs, Chinese Herbal ; pharmacology ; Male ; Rats ; Rats, Wistar ; Signal Transduction ; drug effects ; Silicosis ; drug therapy ; metabolism ; Smad3 Protein ; metabolism ; Smad7 Protein ; metabolism ; Transforming Growth Factor beta1 ; metabolism

OBJECTIVETo study the expression level and intracellular localization of APOBEC3G in peripheral blood mononuclear cells (PBMCs) and liver tissues of chronic HBV patients.

METHODSThe expression level and intracellular localization of APOBEC3G in PBMCs and liver tissues were detected using the western blot and confocal laser scanning microscope (CLSM).

RESULTSWestern-blot showed that the expression level of APOBEC3G in PBMCs of healthy controls was very low. The relative expression levels of APOBEC3G in PBMC of patients with chronic hepatitis B, chronic severe hepatitis, liver cirrhosis, or liver cancer were 4.12+/-0.21, 4.07+/-0.28, 4.16+/-0.36 or 4.21+/-0.39 respectively, which were higher than that in the healthy controls. However, there was no significant difference in APOBEC3G expression among different chronic HBV patients (q = 0.931, 0.744, 1.675, 1.675, 2.606 or 0.931, respectively, all P values more than 0.05). In addition, there was no significant difference on APOBEC3G in liver tissues between chronic hepatitis B patients and hepatocellular carcinoma patients (4.40+/-0.34 vs 4.34+/-0.43, q = 0.588, P more than 0.05). CLSM indicated that the localization of APOBEC3G protein was in cytoplasm of PBMCs and hepatocytes.

CONCLUSIONAPOBEC3G is upregulated in the PBMCs of chronic hepatitis B patients.

APOBEC-3G Deaminase ; Blotting, Western ; Case-Control Studies ; Cytidine Deaminase ; genetics ; metabolism ; Cytoplasm ; metabolism ; Hepatitis B, Chronic ; metabolism ; pathology ; virology ; Humans ; Leukocytes, Mononuclear ; metabolism ; Liver ; metabolism ; pathology ; Liver Cirrhosis ; metabolism ; pathology ; virology ; Liver Neoplasms ; metabolism ; pathology ; virology ; Microscopy, Confocal ; methods ; RNA, Messenger ; genetics ; metabolism

OBJECTIVETo explore the potential role of neuropeptide Y (NPY) in the pathophysiological process of hypertension caused by obstructive sleep apnea syndrome (OSAS).

METHODSThe concentration of serum NPY were measured with radioimmunoassay (RIA) in 417 subjects (97 normotensive controls without OSAS, 113 cases of normotensive with OSAS, 73 cases of hypertensive without OSAS and 134 cases of hypertensive with OSAS. Further, the mean NPY level were compared in four groups and the possible effective factors on NPY were discussed.

RESULTS(1) The concentration of NPY in four groups were (50.5 +/- 37.2) pmol/L in normal controls, (76.0 +/- 39.9) pmol/L in normotensive with OSAS group, (66.9 +/- 36.2) pmol/L in hypertensive without OSAS group and (86.8 +/- 36.8) pmol/L in hypertensive with OSAS group. Whether the patients with OSAS combined with hypertension or not, the concentration of NPY in the serum raised remarkably compared with those without OSAS and hypertension, the highest level of serum NPY was detected in OSAS combined with hypertension group. (2) Pearson correlation analysis indicated that both SBP and DBP related to the serum NPY significantly in non-OSAS group (AHI <10), while the BMI, abdominal circumference, AHI as well as the lowest level of SaO2 correlated to NPY besides SBP in OSAS group with (AHI > or =10). (3) Multiple linear regression model showed that the abdominal circumference and AHI were contributing factors to SBP, while neck circumference and BMI were contributing factors to DBP. The level of NPY in the serum were significantly affected by AHI and BMI, in which the former one had greater influence.

CONCLUSIONThe increased level of serum NPY may play weakly potential roles in the pathophysiological process of hypertension caused by OSAS.

Adult ; Blood Pressure ; Case-Control Studies ; Female ; Humans ; Hypertension ; blood ; epidemiology ; Male ; Middle Aged ; Neuropeptide Y ; blood ; Obesity ; Sleep Apnea, Obstructive ; blood ; complications ; physiopathology

Adult ; Aged ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Mucin-2 ; Mucin-6 ; Mucins ; analysis ; Neoplasms, Cystic, Mucinous, and Serous ; chemistry ; Pancreatic Neoplasms ; chemistry