Denys-Drash Syndrome ; diagnosis ; Humans ; Infant ; Male

· AIM: To summarize the clinical features of Chinese primary congenital glaucoma and to investigate the discrepancies of the clinical features between the Chinese and Indian patients.congenital glaucoma patients were reviewed. The clinical features were summarized as several quantifiable clinical parameters and the severity of the disease was evaluated. Both the quantified clinical features and severity were statistically compared with those of the Indian patients, which were cited from the previous published articles.included in the study. In Chinese patients, sex ratio (male to female )was about 2:1, family history was presented in 3 patients (7.5%) and consanguinity was found in one patient (2.5%). The main symptoms and signs observed in Chinese patients spanned a wide spectrum of manifestations. The most frequent signs noted on the initial examination were enlarged eyeball (42.5%) and decreased visual acuity (35.0%). Compared with Indian patients, Chinese patients had a later onset, a delayed diagnosis, more severe corneal changes and more severe optic nerve damages (P＜0.01). The combined tabeculectomy and trabeculotomy operation was preferred by both Chinese and Indian doctors whereas a higher proportion of Indian patients received the combined operation (P＜0.01). The proportions of the severity grade were different between Chinese and Indian patients. Most Chinese patients were in the severe grade while most Indian patients were in the very severe grade (P＜0.01).patients were sporadic and non-consanguineous.Compared with Indian patients, Chinese patients had a relative later onset, a delayed diagnosis and treatment.More attempts are needed in Chinese PCG prevention and treatment.

The role of methyl-CpG binding domain protein 2 (MBD2) in an ApoE-deficient mouse model of age-related macular degeneration (AMD) was investigated. Eight-week-old Mbd2/ApoE double deficient (Mbd2(-/-) ApoE(-/-)) mice (n=12, 24 eyes, experimental group) and MBD2 (wt) ApoE(-/-) mice (n=12, 24 eyes, control group) were fed on Western-type diet for 4 months. The mice were sacrificed, and total serum cholesterol levels were analyzed and Bruch's membrane (BM) of the eyes was removed for ultrastructural observation by transmission electron microscopy. Moreover, intercellular adhesion molecule 1 (ICAM-1) immunoreactivities were evaluated by fluorescence microscopy in sections of the eyes in both groups for further understanding the function mechanism of MBD2. There was no significant difference in the total serum cholesterol levels between control group and experimental group (P>0.05). Transmission electron microscopy revealed that AMD-like lesions, various vacuoles accumulated on BM, notable outer collagenous layer deposits and dilated basal infoldings of retinal pigment epithelium (RPE) were seen in both groups, and the BM in control group was significantly thickened as compared with experimental group (P<0.05). Fluorescence micrographs exhibited the expression of ICAM-1 in choroid was higher in control group than in experimental group. We are led to conclude that MBD2 gene knockout may lead to accumulation of more deposits on the BM and influence the pathogenesis of AMD via triggering endothelial activation and inflammatory response in choroid, improving microcirculation, and reducing lipid deposition so as to inhibit the development of AMD-like lesions. Our study helps to provide a new therapeutic approach for the clinical treatment of AMD.

Objective To investigate the therapeutic effect of large dose mucosolvan combined variant flow rate continuous positive airway by nasal mask on neonatal respiratory distress syndrome(NRDS).Methods One hundred and fourteen newborns with NRDS were randomly divided into treatment group(58 cases) and control group(56 cases),on the base of same combined therapy,the cases in control group only underwent oxygen-absorbing by head set with the flow rate 4-6 L/min,and the cases in treatment group were given large dose mucosolvan(Ambroxol Hydrochloride) 30 mg/(kg?d) + 5%GS 20 mL,for two times and variant flow rate continuous positive airway by nasal mask(NCPAP),the parameter setting flow rate 6-8 L/min,FiO_2 0.4-0.6,pressure 5-8 cm H_2O.The clinical symptom and blood gas analysis after 12 and 48 hours were observed and compared the changes of pa(O_2),pa(CO_2),pa(O_2)/FiO_2 in two groups.Results The dyspnea and groan in 44 cases in the treatment group lessoned or vanished,pa(O_2) rised and pa(CO_2) lowered,the oxygenation index obviously increased,the cases with RDS grade Ⅰand gradeⅡ had better therapeutic effect,and the cases with RDS grade Ⅲ(X-ray)and Ⅳ had not manifest effect,the total effective rate was 75.8% in treatment group and 26.7% in control group.There were significant difference in therapeutic effect and oxygenation index between two groups.Conclusions Large dose mucosolvan(combi)-ning variant flow rate continuous positive airway by nasal mask can significantly improve the ventilation and oxygenation function and there are significant therapeutic effect in NRDS,especially in the NRDS grade Ⅰand gradeⅡ,the trachea cannula may be avoided and mechanical ventilation rate may be decreased if the therapeutic method can be used in earlier period.

OBJECTIVE To explore the effect of connexin (Cx) 40-formed gap junctional intercellular communication (GJIC) on Photofrin- photodynamic therapy (PDT) phototoxicity in Cx40- transfected HeLa cells and its potential mechanisms. METHODS HeLa cell line stably transfected to express Cx40 was seeded at high and low cell density, respectively, to assess in vitro photosensitivity using CCK8 assay. Western blot assay was performed to detect the expression of Cx40. The intracellular ROS and Ca2 +concentrations were determined using flow cytometer. 4-HNE and ceramide were measured using ELISA assay. RESULTS Cx40-composed GJ formation at high density enhances the phototoxicity of Photofrin-PDT. When the Cx40 is not expressed or Cx40 channels are blocked, the phototoxicity in high-density cultures substantially reduces, indicating that the enhanced PDT phototoxicity at high density is mediated by Cx40-composed GJIC. The GJIC-mediated increase in PDT phototoxicity was associated with ROS and calcium-mediated stress signaling pathways. CONCLUSION The work uniquely presents the ability of Cx40-composed GJIC to enhance the sensitivity of malignant cells to PDT, and indicates that mainte?nance or increase of Cx40-formed GJIC may be a profitable strategy towards the enhancement of PDT therapeutic efficiency.

Objective To investigate the application of fetuses with talipes equinovarus (TE) using chromosomal microarray analysis (CMA) technology. Methods From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes. Results One of the 54 cases was detected with abnormal karyotype which was trisomy 18 (2%, 1/54). CMA was undertaken to the remaining fetuses, they were divided into 2 groups, including isolated TE group (n=38) and complex TE group (n=15). The detection rate of clinical significant copy number variations (CNV) by CMA was 11% (6/53), while isolated and complex TE group were 5% (2/38) and 4/15, respectively (P=0.047). Of the 53 cases, 51 cases were successfully followed up. Eleven cases were found without TE after birth, and the false positive rate (FPR) of TE was 22%(11/51). Conclusions Whole-genome high-resolution CMA increased the detection rate by 11% in fetuses with TE. With the FPR and the detection rate of the clinical significant CNV of 2 groups, whole-genome CMA could be recommended to the fetuses with complex TE group but normal karyotypes. A series of ultrasonic tests should be suggested to the isolate TE group, while with the abnormal ultrasound, fetuses would be suggested to have CMA test for decreasing the rates of invasive prenatal diagnosis and FPR.

Objective To determine the expression pattern of macrophage-inducible c-type lectin (MINCLE)on Macrophage(Mφ),myeloid dendritic cell (mDC)and plasmacytoid DC(pDC)in peripheral blood (PB)and synovial fluid(SF)in patients with rheumatoid arthritis (RA).Methods For mRNA expression of MINCLE,253 RA patients and 71 healthy control subjects were enrolled.The mRNA level of MINCLE was determined by real-time PCR.For protein expression of MINCLE,18 patients with RA,5 patients with osteoarthritis(OA)and 12 healthy control subjects were enrolled.The expression of MINCLE on Mφ,mDC and pDC were detected by flow cytometry.The differences of MINCLE expressions in PB between RA patients,OA patients and healthy controls,or differences between PB and SF in RA patients were analyzed using Mann-Whitney U test or paired-samples t test.Results ①Compared to the healthy controls,RA patients showed elevated mRNA expression level of MINCLE in PBMCs[(1.65±0.36)vs (0.37±0.06),U=6057,P=2.75×10-5].②At protein level,MINCLE was hardly detected in Mφ,mDC and pDC in PB of OA patients and healthy controls.In SF,MINCLE was highiy expressed on mDC in RA patients,compared with that in OA patients[(34.8±4.4)%,U=0,P=2.6×10-3].In RA patients,the expression level of MINCLE was remarkably elevated in Mφ,mDC and pDC in SF compared with that in PB[Mφ(2.01±0.53)%vs(0.273±0.51)%,t=4.879,P=2.23×10-6;mDC(34.8±4.4)%vs(22.7±5.5)%t=2.535.P=0.017].Conclusion MINCLE is selectively expressed on Mφ.mDC and pDC in SF in RA patients.MINCLE may serve as a potential important marker,or even target,for RA and possibly even for inflammation in general.

OBJECTIVETo summarize the clinical experience from treatment of patients with severe acute respiratory syndrome (SARS).

METHODSRetrospective analysis of seven patients with SARS in Ditan hospital treated since April 22 in 2004 was performed.

RESULTSIn the 7 patients, 2 were male, 5 were female, and the average age was (35.3 plus/minus 11.3) years. The main clinical manifestations were fever, cough, minor or serious dyspnea, nausea, signs of injury to other organs, and so on. The treatment regiments included oxygen, small dosage and short period of methylprednisolone (1 to 2 mg/kg), use of ventilator, psychological intervention, and treatment of underlying diseases, after which, all the 7 patients recovered.

CONCLUSIONRational use of methylprednisolone and timely use of ventilator were the key steps of treatment.

Adult ; Anti-Inflammatory Agents ; therapeutic use ; Combined Modality Therapy ; Cross Infection ; drug therapy ; therapy ; transmission ; Female ; Humans ; Infectious Disease Transmission, Patient-to-Professional ; Male ; Methylprednisolone ; therapeutic use ; Middle Aged ; Oxygen Inhalation Therapy ; Retrospective Studies ; Severe Acute Respiratory Syndrome ; therapy ; transmission ; Ventilators, Mechanical

OBJECTIVETo evaluate the effect of alpha-galactosidase A (Gla) deficiency on FV Leiden (FVL) associated thrombosis in vivo.

METHODSTo generate the mice carrying mutations in Gla and FVL and analyze the tissue fibrin deposition in organs and thrombosis.

RESULTSIn the presence of FVL, Gla deficiency greatly increased tissue fibrin deposition compared with that in wild-type [Gla(-/0) FV(Q/Q) vs. Gla(+/0) FV(Q/Q) = (0.24 +/- 0.07)% vs. (0.086 +/- 0.049)%, P < 0.0001; Gla(-/-) FV(Q/Q) vs. Gla(+/+) FV(Q/Q) = (0.32 +/- 0.03)% vs. (0.06 +/- 0.005)%, P < 0.05]. With Gla deficiency, the number of thrombi on organ sections in FVL mice was significantly increased [(Gla(-/-) FV(Q/Q) and Gla(-/0) FV(Q/Q)) vs. (Gla(+/+) FV(Q/Q) and Gla(+/0) FV(Q/Q)) = 1.9 +/- 0.7 vs. 0.3 +/- 0.1, P < 0.05].

CONCLUSIONSGla deficiency could be an important genetic modifier for the enhanced thrombosis associated with FVL.

Animals ; Fabry Disease ; genetics ; Factor V ; genetics ; Genotype ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mutation ; Thrombosis ; genetics ; pathology

Objective To study the mechanism, clinical characteristics, diagnosis and treatments of orbital fracture-induced exophthalmos after craniocerebral injury. Methods We retrospectively analyzed the data of 13 patients with orbital fracture-induced exophthalmos after head injury: their causes of injury, clinical situations, types of fracture, operative treatments and surgical outcomes. Spiral CT thin slice scan and three-dimensional reconstruction were performed on the orbit before any treatment, and then, orbital fractures were repaired by corresponding surgical approaches according to the position of fractures and head injury. The effect of operation was evaluated by spiral CT and follow up was performed. Results The patients obviously manifested as having craniocerebral injury and 14 eyeballs in 13 patients had exophthalmos. The average preoperative degree of protrusion was (2.94±0.47) mm.The axial spiral CT together with the reconstructive picture presented the pre- and pro-operative orbital fractures clearly. Orbital fracture positions were situated at superior and medial wall of the orbit. All operations were succeed without death or severe disability. Conclusion The diversify of intracranial pressure is the main reason of orbital fractures which shrinks towards the inter orbit to its volume and induces exophthalmos after craniocerebral injury. The spiral CT examination has vital significance in the diagnosis and treatment of orbital fracture-induced exophthalmos and the patients can obtain good outcome by early surgery.