Retinitis pigmentosa (RP) is a large group of common hereditary eye diseases with highlyheterogeneous genetic background. Over forty genes with diverse functionalities are associated with RP and they include a set of ubiquitously expressed genes. These include five genes involved in the precursor messenger RNA( premRNA) splicing. Recent progress in disease gene identification for RP has established the involvement of pre-mRNA splicing as one important mechanism in the disease etiology and has shed light on the splicing process itself, a fundamental biological process. To this date, studies in this field have been focused on two major issues. First, how do the mutations of the adRP associated splicing factors (adRP-SF) affect the splicing function? Second, how do the mutations in these ubiquitously expressed genes lead to specific retinopathy? The two topics fit with the two continuous important steps of the disease pathogenesis. Recently, researchers have made a dramatic progress in the first topic. The identification of the SNRNP200 gene,the fifth adRP-SF and its relevant functional study has shown significance to the progress in the study of RP. Numerous investigations are also being carried out in addressing the second issue.Generation of a variety of models led to a better description of the pathological process of the disease. However, in respect to the key pathogenic mechanism,researchers are still puzzled with a number of confusing questions. In this commentary,the results from the latest investigations were summarized, and in particular,the difficulties in studying the molecular mechanism by which the pre-mRNA splicing deficiency causes RP were detailed.

Objective To investigate the clinical significance of plasma presepsin levels in patients with sepsis. Methods 92 patients who were admitted to the ICU of the affiliated hospital of Jiangsu University from October 2011 to March 2013 and 30 age-matched healthy controls were enrolled in this study. The patients were divided into three groups: sepsis, SIRS, and control. Plasma presepsin and serum procalcitonin (PCT) were measured, APACHEⅡscore were calculated at enrollment, and ROC curve was used to analyze the performance index for the diagnosis of sepsis. Results Serum levels of presepsin, PCT and APACHEⅡscore were significantly higher in the death group than in the SIRS group and the control group (P<0.01). Serum levels of presepsin and PCT were higher in the sepsis group than in the SIRS group and the control group (P<0.05). There was no significant statistical difference between the SIRS group and the sepsis group in the APACHEⅡ score (detailed in table 1). Level of plasma presepsin was significantly correlated with serum PCT (r = 0.82); plasma presepsin level was related with the APACHEⅡ score (r = 0.69). The area under the curve (AUC) of presepsin was 0.908 (95%CI 0.848~0.967), greater than the AUC of PCT 0.862 (95%CI 0.787~0.937). The cutoff value of presepsin for discrimination of bacterial and nonbacterial infectious diseases was determined to be 629 pg/mL, of which the clinical sensitivity and specificity were 68.6% and 90%, respectively; when the cutoff value of PCT was 1.98 ng/mL, the clinical sensitivity and specificity were 92%and 65%. Conclusions Level of presepsin increases in patients with sepsis, and an elevated presepsin may suggest the severity of sepsis.

Cardiovascular Diseases ; therapy ; Humans ; Medicine, Chinese Traditional ; Phytotherapy

Objective To investigate the clinical manifestations,pathological features,treatment and prognosis of nongesta-tional choriocarcinomas.Methods The clinicopathological data in 4 cases of nongestational choriocarcinoma were retrospectively analyzed and the relevant literatures were reviewed.Results All 4 patients had no confirmed diagnosis at first visit to hospital.All patients received the operative therapy and postoperative bleomycin,etoposide and cis-platinum (BEP)regimen chemotherapy.The followed up lasted for 3-32 months.One case died at postoperative 26 months due to pulmonary metastasis;one case was loss of follow up;two cases had relatively favorable condition.Conclusion Nongestational choriocarcinoma is a rare and highly invasive trophoblastic neoplasm,and is prone for early distant metastasis.The treatment is recommended to adopt operation combined with postoperative combined chemotherapy of multiple drugs.

Tanshinones are a large class of hydrophobic natural products isolated from traditional Chinese herb Salvia miltiorrhiza Bunge and related plants. Tanshinones include tanshinone ⅡA, cryptotanshinone, tanshinone I, dihydrotanshinone, and so on. Both the tanshinones and the salvianolic acids have been identi-fied as the characteristic and main active ingredients of Salvia miltiorrhiza Bunge with cardiovascular protective activities. Ac-cumulated data in recent years have revealed that tanshinones possess remarkable anti-cancer activities both in vivo and in vitro. In this review, we summarize the latest progress of the an-ti-cancer effect and the underlying mechanisms of tanshinones, particularly with emphasis on tanshinone ⅡA, which might pro-vide reference for the further research and development of these compounds.

Objective To investigate the clinical typing and staging in diagnosis of Severe Acute Respiratory Syndrome (SARS). Methods Retrospective study was designed to analysis the principal clinical characteristic of SARS and the standard of clinical typing and staging was raised. Comparisons with X-ray in lung, change of lymphocyte subset, PaO_2, SaO_2,and prognosis of disease were performed. Results The standard of SARS clinical typing and staging is four types (light type, ordinary type, heavy type, serious type)and four phases (prodromal period, progres phase, fastigium, recovery phase). The light type is 8/162(4.9%), ordinary type is 69/162 (42.6%), heavy type is 41/162 (25.3%), serious type is (27.2%). Comparisons SARS clinical typing and staging with X-ray in lung, change of lymphocyte subset were found that the more lesion in lung, the lower lymphocyte and its subset, and more serious in clinical typing. Conclusions The standard of clinical typing and staging summarized basic clinical characteristic in SARS, and coincided with progress of SARS. The standard will be help of clinical diagnosis, treatment and judging the prognosis of SARS.

Purpose To investigate the value of cytopathological diagnosis in combination with histopathological diagnosis for peripherial and diffuse lung diseases by biopsy specimens under CT guidance.Methods A total of 370 cases of lung biopsy specimens under CT guidance were reviewed.The correlation between cytopathological diagnosis and histopathological diagnosis was analyzed.The sensitivity and false negative rate of cytopathological diagnosis,histopathological diagnosis and the combinational diagnosis method were calculated,and the accordance rate of cytopathological diagnosis with histopathological diagnosis was analyzed.Results Among the 370 cases,histopathological diagnosis revealed 177 (47.84％) cancers,22 (5.95 ％) malignant tumors,16 (4.32％) suspicious malignancy,12 (3.24％) atypical cells and 143 (38.65 ％)negative findings,whereas the corresponding number for cytopathological diagnosis were 166(44.87％),10(2.70％),16(4.32％),49(13.24％)and 129(34.87％).The two diagnosis methods were correlated (P ＜ 0.001).The sensitivity of cytopathological diagnosis,histopathological diagnosis and the combinational method were 80.00％ (192/240),89.58％ (215/240) and 98.33％ (236/240),respectively.The eytopathologieal diagnosis and the histopathologieal diagnosis had a statistically significant difference in the sensitivity (P ＜ 0.05).The difference in sensitivity between the combinational method and the histopathological diagnosis was statistically significant(P ＜ 0.05).Overall,66.15％ (127/192) of the cytopathogically positive cases were precisely typed by cytopathological diagnosis.Complications during or after the operation were found in 14.59％ of cases,among which 31 had pneumothorax and 23 had bleeding in the needle passage or bloody sputum,all improving after appropriate treatment.Conclusion Percutaneous lung biopsy under CT guidance is a safe,sensitive and accurate method for diagnosis of lung diseases,and the combinational use of cytopathological diagnosis and histopathological diagnosis significantly increases the rate of diagnosis and has a favorable clinical application value.

A spectrophotometric method for the determination of calcium in milk, hair and urine was developed using metal complezing dye orthocresolphth-alein complexone(OCPC).The organic matter in the tested sample was destroyed by digestion. An aliquot of the digested solution was mixed with color developing reagent, alkaline OCPC, cantaining 8-quinolinol to suppress interference such as magnesium, and the absorbance was measured at 570 nm.The coefficients of variation were 0.87, 3.6 and 1.2% for milk, hair and urine samples; and the analytical recoveries of calcium from milk, hair and urine averaged 100.4, 101.0 and 98.5% respectively. The calcium content of milk and hair determined by this method was closely correlated with that of the ICP-AES method (r =0.994, p

Small intestinal neuroendocrine carcinoma is poorly differentiated,highly malignant,and originated from the diffuse neuroendocrine system.It diffusely expresses the general neuroendocrine differentiation markers.The disease can be manifested as carcinoid syndrome,but most of the patients were with occult onset and absence of specific clinical symptoms,which led to difficult diagnosis before operation.On June 18,2012,a patient with manifestation of recurrent vague abdominal pain received capsule endoscopy at the Northern Jiangsu People's Hospital.The capsule endoscope was retained in the distal small intestine,and malignant ileum lesion was revealed during the surgical exploration.Finally,poorly differentiated neuroendocrine carcinoma with abdominal wall metastases was identified by pathological examination.