[Mutational analysis of MYO1E in children with sporadic steroid-resistant nephrotic syndrome in Chinese Han ethnic group].

Objective: Previous studies have demonstrated that two homozygous missense MYO1E mutations are associated with childhood autosomal recessive focal segmental glomerulosclerosis in steroid-resistant nephrotic syndrome (SRNS) families from Italy and Turkey. Non-disease-causing heterozygous MYO1E variants were also found in other SRNS patient cohorts. However, the role of MYO1E mutations in Chinese sporadic SRNS has not been established.

[Method and significance of ultrasonographic assessment of the uterine weight before pelvic floor reconstruction].

Objective: To investigate the accuracy of ultrasonographic assessment of the total uterine weight and the feasibility of using this method in the pelvic floor reconstruction.

Methods: Firstly, 81 cases with hysterectomy due to benign uterine diseases or uterine prolapse were studied. The preoperative dimensions and gravities of corpus uteri and cervix were calculated by formulas, and were then compared with the postoperative measurements.

Optimal cutoff scores for dementia and mild cognitive impairment of the Montreal Cognitive Assessment among elderly and oldest-old Chinese population.

Background: All versions of the Montreal Cognitive Assessment (MoCA) lack population-based data of 80-plus individuals. The norms and cut-off scores for mild cognitive impairment (MCI) and dementia of the MoCA are different among five Chinese versions.

Objective: To provide the cut-off scores in detecting MCI and dementia of the Peking Medical Union College Hospital version of the MoCA (MoCA-P).

Clearance of serum solutes by hemofiltration in dogs with severe heat stroke.

Background: We have previously reported that hemofiltration (HF) may be an effective additional means of treating heat stroke when rapid cooling is not effective.

Methods: Dogs were assigned to a heat stroke (control) or heat stroke + hemofiltration (HF) group (n = 8 each group). After heat stroke induction, dogs in the HF group received HF for 3 h.

"Fast track" rehabilitation after gastric cancer resection: experience with 80 consecutive cases.

Background: To evaluate the safety, efficacy and outcomes of fast-track rehabilitation applied to gastric cancer proximal, distal and total gastrectomy.

Methods: Eighty consecutive patients undergoing gastric cancer resection performed by a single surgeon, received perioperative multimodal rehabilitation. Demographic and operative data, gastrointestinal function, postoperative hospital stays, surgical and general complications and mortality were assessed prospectively.

[Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements].

Objective: To analyze chromosome aberration in a child with mental retardation and abnormalities and its parents.

Methods: Chromosome G banding, multiplex ligation-dependent probe amplification, fluorescence in situ hybridization and single nucleotide polymorphisms array were employed for analysis.

Results: Karyotype analysis revealed that the child was 46,XX and the father was 46,XY, while the mother was 46,XX, add (12)(p13).

Early plasma exchange for treating ricin toxicity in children after castor bean ingestion.

Plasma exchange (PE) for the treatment of ricin toxicity has not been previously reported. Here we describe the use of PE to treat children who experienced ricin toxicity after ingesting castor beans. Seven children (median age: 8.

Development of aptamer oligonucleotides as anticoagulants and antithrombotics for cardiovascular diseases: current status.

Aptamers are short DNA/RNA oligonucleotides selected by a process known as Systematic Evolution of Ligands by Exponential Enrichment (SELEX) based on affinity for target molecules. Since aptamers have several advantages over monoclonal antibodies, such as high specificity and affinity, flexible modification and stability, and lack of toxicity and immunogenicity, they are promising novel diagnostic and therapeutic agents. In this review, we will describe the development of aptamers against thrombin, von Willebrand factor (vWF), factor IX, and factor XII as potential anticoagulants or antithrombotics for cardiovascular diseases, especially those that have entered clinical trials.

A label-free aptasensor for highly sensitive detection of ATP and thrombin based on metal-enhanced PicoGreen fluorescence.

A label-free fluorescence aptasensor for highly selective and sensitive detection of ATP and thrombin was developed by using PicoGreen (PG) as signal molecule and surface-bound metal-enhanced fluorescence (MEF) substrates (silver island films, SIFs) as signal enhancers. On binding with ATP or thrombin, aptamers undergo structure switching, leading to a reduction of fluorescence intensity of PG. Chang of fluorescence intensity can be magnified by SIFs.

The value of neck circumference (NC) as a predictor of non-alcoholic fatty liver disease (NAFLD).

Aims: To analyze the correlation between neck circumference (NC) and non-alcoholic fatty liver disease (NAFLD) and compare the predictive value of NC for NAFLD with that of other simple anthropometric measures and other biochemical profiles.

Methods: 2761 subjects, undergoing a medical check-up at the Changhai Hospital between October 01, 2012 and November 30, 2012, were recruited to the study. NC, other simple anthropometric measures, and biochemical profiles were analyzed.

Misdiagnosed male breast cancer with an unknown primary tumor: A case report.

Compared with female breast cancer, male breast cancer (MBC) has an extremely low morbidity, later staging and fewer breast tissues. The lumps are easier to invade in the center and the majority of the cases are positive for metastatic lymph node, with the typical clinical manifestation as a painless mass in partial breast. MBC with an unknown primary tumor is rare and is often prone to misdiagnosis, resulting in a delay in correct treatment.

[Continuous negative pressure-flush through extraperitoneal dual tube in the treatment and prevention for rectal cancer patients with anastomotic leakage after low anterior resection].

Objective: To compare the efficacy between continuous negative pressure-flush through extraperitoneal dual tube and conventional drainage in the treatment and prevention for anastomotic leakage after low anterior resection in patients with rectal cancer.

Methods: Clinical data of 627 rectal cancer patients undergoing low anterior resection by the same surgical team from January 2007 to March 2012 were reviewed retrospectively. Of 627 patients, 370 received self-made easy extraperitoneal dual tube which was placed in the dorsal site of an anastomosis for drainage (dual tube group), and the other 257 received conventional drainage tube from abdominal cavity (convention group) prophylactically.

[A clinical analysis of eight proven cases of pulmonary mucormycosis].

Objective: To improve the understanding of pulmonary mucormycosis by analyzing the clinical manifestations, imaging features, diagnosis, treatment and prognosis of this disease.

Methods: The clinical data of eight patients diagnosed as pulmonary mucormycosis by histopathologic examination were retrospectively analyzed.

Results: Eight patients included six males and two females with age from 36 days to 66 years.

[Study on risk factors with the occurrence of the mesh exposure after pelvic floor reconstruction].

Objective: To study risk factors with the occurrence of the mesh exposure after pelvic floor reconstruction.

Methods: From Mar.2007 to Mar.

Needle-knife therapy improves the clinical symptoms of knee osteoarthritis by inhibiting the expression of inflammatory cytokines.

Knee osteoarthritis (KOA) is a degenerative joint disease that occurs mainly in the elderly population. However, there are currently no effective treatments for treating this condition. In this study, the efficacy of needle-knife therapy, a technique of traditional Chinese medicine that has been widely used to treat KOA was investigated.

Construction of the Chinese Veteran Clinical Research (CVCR) platform for the assessment of non-communicable diseases.

Background: Based on the excellent medical care and management system for Chinese veterans, as well as the detailed medical documentation available, we aim to construct a Chinese Veteran Clinical Research (CVCR) platform on non-communicable diseases (NCDs) and carry out studies of the primary disabling NCDs.

Methods: The Geriatric Neurology Department of Chinese People's Liberation Army General Hospital and veterans' hospitals serve as the leading and participating units in the platform construction. The fundamental constituents of the platform are veteran communities.

Regulation and expression of aberrant methylation on irinotecan metabolic genes CES2, UGT1A1 and GUSB in the in-vitro cultured colorectal cancer cells.

Objective: To evaluate the aberrant methylation gene expression related to the irinotecan (CPT-11) metabolic enzymes in different colorectal cancer cell strains; provide new thoughts and measures for reverse of tumor drug resistance.

Methods: Studied the aberrant methylation state of CES2, UGT1A1 and GUSB in eight colorectal cancer cell strains through MSP method; and analyze the expression of the target gene after being dealt with DAC.

Results: UGT1A1 showed methylation in five cell strains, while CES2 and GUSB respectively showed consistent unmethylation or hemimethylation.

Study on hyperuricemia in HBV-associated glomerulonephritis.

Objectives: To determine the prevalence and risk factors for hyperuricemia in hepatitis B virus-associated glomerulonephritis (HBV-GN).

Methods: Univariate and multivariate logistic regression analysis was applied to decide the risk factors of hyperuricemia in HBV-GN, and clinical and pathologic data were compared between HBV-GN patients with hyperuricemia and those with normal serum uric acid.

Results: Among our 227 HBV-GN cases, 31.

Roles of transcriptional factor Snail and adhesion factor E-cadherin in clear cell renal cell carcinoma.

The aim of this study was to investigate the roles of the transcription factor Snail and adhesion factor epithelial-cadherin (E-cadherin) in clear cell renal cell carcinoma (CCRCC) and evaluate their correlation with tumor pathological grading, clinical stage, invasion and metastases. The expression of Snail and E-cadherin protein in 69 samples of CCRCC tissue, 58 samples of para-cancerous mucosa and 10 samples of normal renal tissue were detected using the immunohistochemical streptavidin-peroxidase method. The positivity rate of Snail in CCRCC was 82.

[Analysis of small supernumerary marker chromosome 15q11 in four infertile males].

Objective: To delineate the origins of small supernumerary marker chromosomes (sSMCs) identified in 4 infertile males.

Methods: The sSMCs were analyzed with combined G-banding, N-banding, multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) and single nucleotide polymorphisms array (SNP-array) techniques.

Results: G-banding analysis has suggested a 46,X,-Y,+mar karyotype in all of the 4 cases.

[Correlation of methylation of CpG island in cystathionine beta synthase promoter and clinicopathological features in colorectal cancer].

Objective: To explore the association between methylation of cystathionine-beta-synthase (CBS) promoter and clinicopathological features in colorectal cancer.

Methods: Bisulfate sequencing PCR, real-time RT-PCR, and immunohistochemistry were used to investigate the methylation of CpG island in CBS promoter of 95 sporadic colorectal cancers. Software SPSS PASW Statistics was used to analyze the data of the hypermethylation levels in the malignant tissues and the correlation with pathological parameters and clinical outcome.

Immature teratoma of the posterior cranial fossa in a 4-month-old infant: A case report.

The present study analyzed a case of immature teratoma in the posterior cranial fossa of an infant and compared the clinical data with the associated literature. Ventricular drainage was initially performed upon the patient's admission to the hospital. Following adequate pre-operative preparations, the tumor in the posterior cranial fossa was resected on the third day.

[Treatment of comminuted distal tibial fractures with the less invasive stabilization system (LISS)].

Objective: To evaluate clinical effects of minimal invasive stabilization system (LISS) for the treatment of comminuted distal tibial fractures.

Methods: From February 2006 to February 2010, 48 patients with comminuted distal tibial fractures were treated with LISS. There were 30 males and 18 females, ranging in age from 18 to 78 years.

[Delineation of three structural Y chromosome aberrations combined molecular techniques].

Objective: To delineate the structure of Y chromosome aberrations and recombinant mechanisms for three patients.

Methods: Karyotype analysis, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), Y chromosome sequence tagged sites (STS) analysis, human whole genome-wide SNP array were used.

Results: The karyotypes of the three patients were 46, X, +mar.