[Research progress of adjuvant TACE therapy for liver cancer after radical resection].

Transcatheter arterial chemoembolization (TACE) is the most commonly used method for non-surgical treatment of liver cancer, and it is usually used as an adjuvant therapy in patients who have not developed intrahepatic metastases after surgical resection. Postoperative adjuvant TACE therapy may provide a prognostic benefit in liver cancer patients with high recurrence risk. This article reviews the research progress of adjuvant TACE therapy for liver cancer after radical resection.

[Efficacy of in-situ full-left/full-right split liver transplantation for adult recipients using the living donor liver transplantation technique:a single-center report of 25 cases].

Objective: To evaluate the efficacy of in-situ full size split liver transplantation(fSLT) for adult recipients using the living donor liver transplantation(LDLT) technique and to compare the characteristics of the left hemiliver graft (LHG) and the right hemiliver graft(RHG)transplantation. Methods: Deceased donor and recipient data of 25 consecutive cases of fSLT at Department of Hepatopancreatobiliary Surgery, Ningbo Medical Center Lihuili Hospital from March to December 2021 was retrieved and the patients divided into two groups:LHG group and RHG group. Among the 13 donors,11 were male and 2 were female,aged (M(IQR))38(19) years(range: 25 to 56 years),with height of 168(5) cm(range:160 to 175 cm) and weight of 65(9) kg(range: 50 to 75 kg). The median age of the 25 recipients was 52(14) years(range:35 to 71 years),17 were male and 8 were female,15 had primary liver cancer and 10 had benign end-stage liver disease,model for end-stage liver disease score was 10(9) points(range:7 to 23 points). Of the 25 recipients,10 recipients had previously undergone hepatobiliary surgery. The follow-up period was to January 2022. Demographic,clinicopathological,surgical outcomes and postoperative complications were evaluated and compared between the two groups. Continuous quantitative data were compared using Mann-Whitney U test. Classification data were expressed as frequencies,and were compared between groups using χ2 test or Fisher exact probability method. Results: Using LDLT technique,in-situ full-left/full-right liver splitting was performed and 13 viable pairs of hemiliver grafts were harvested with acquisition time of 230(53) minutes(range:125 to 352 minutes) and blood loss of 250(100) ml(range:150 to 1 000 ml). A total of 25 hemiliver grafts(13 LHG and 12 RHG) were allocated to patients listed for liver transplantation in our center by China Organ Transplant Response System. In the LHG group(13 cases),there were more females and more patients with benign end-stage liver disease than in the RHG group(12 cases)(P<0.05). The body weight and graft weight of recipients in the LHG group were lower than that in RHG group(both P<0.05). There were no significant differences in other baseline data between the two groups(all P>0.05). The graft to recipient weight ratio(GRWR) was 1.2(0.4)%(range:0.7% to 1.9%) for 25 recipients,1.1(0.5)%(range:0.7% to 1.6%)for the LHG group and 1.3(0.5)%(range:0.9% to 1.9%)for the RHG group. There was no significant difference between the two groups (P>0.05). Sharing patterns of hepatic vessels and the common bile duct are as follows:all the trunk of middle hepatic vein were allocated to the LHG group. The proportion of celiac trunk,main portal vein and common bile duct assigned to LHG and RHG was 10∶3 (P=0.009), 9∶4 (P>0.05) and 4∶9 (P=0.027),respectively. The vena cava of 12 donors in early stage retained in LHG and that of last one was shared between LHG and RHG (P<0.01). The median cold ischemia time of 25 hemiliver grafts was 240(90) minutes(range:138 to 420 minutes). For the total of 25 fSLT,the median anhepatic phase was 50(16) minutes(range:31 to 98 minutes) and the operation time was 474(138)minutes(range:294 to 680 minutes) with blood loss of 800(640) ml(range:200 to 5 000 ml). There were no significant differences in all of operation data between two groups. In the LHG group,3 patients with GRWR≤0.8% had postoperative small-for-size syndrome which improved after treatment. Postoperative Clavien-Dindo grade≥Ⅲ complications were observed in 6 cases(24.0%),4 cases(4/13) in the LHG group and 2 cases(2/12) in the RHG group,respectively. The difference was not statistically significant. Among them,5 cases improved after re-operation and intervention,1 case in LHG group died of secondary infection 2 weeks after operation,and the mortality was 4.0%. Analysis of serious postoperative complications and death has suggested that conventional caval interposition should not be used for LHG transplantation. Conclusion: Relying on accurate donor-recipient evaluation and the apply of LDLT technique,the morbidity and mortality of in-situ fSLT in adults is acceptable.

[Analysis of the clinical characteristics and species distribution of non-tuberculous mycobacteria in a general hospital].

Objective: To summarize the clinical characteristics and species distribution of nontuberculous mycobacteria(NTM). Methods: We conducted a retrospectively chart review of 453 adult patients with 532 positive cultures with NTM diagnosed and treated in Peking Union Medical College Hospital from January 2014 to December 2018. The information including clinical findings, imaging and etiological data were obtained from clinical examination system. Among these 453 patients, 75 cases met the diagnostic criteria for NTM, with detailed clinical data, culture results and radiological images. Of these patients, 38 were males and 37 were females, with an average age of (50.8±16.2) years. Clinical manifestations, imaging features, NTM species and treatment were analyzed. Results: Among 75 NTM patients, 43 cases (57.3%, 43/75) were infected with Mycobacterium avium Complex (MAC)/intracellular, 18 cases (24.0%, 18/75) with Mycobacterium turtle/abscess, and 7 cases (9.3%, 7/75) with Mycobacterium kansasii. Comorbidities existed in 64.0% patients (48/75). The top two common comorbidities were previous tuberculosis (25.3%, 19/75) infection and clinical bronchiectasis (18.7%, 14/75). After the respiratory disease (82.7%, 62/75), we identified bloodstream as the most frequent manifestation of NTM infection (25.3%, 19/75). MAC was often associated with infection in respiratory system and bloodstream, while rapidly growing mycobacteria (RGM) was more commonly detected in lymph nodes and skin and soft tissues. Cough/expectoration (77.4%, 48/62) was the most common clinical symptom of NTM disease, followed by fever and dyspnea. The frequent imaging findings were nodules (41.9%, 26/62), bronchiectasis (37.1%, 23/62), and fibrous cavities (24.2%, 15/62). In disseminated NTM disease, 94.7% (18/19) patients had underlying diseases and 89.5% (17/19) patients had long-term immunosuppression. Conclusion: The most common NTM species was Mycobacterium avium/intracellular in our series. The predominant infected organ was the respiratory system. Previous tuberculosis history likely increased the risk of infection.

[Analysis of the effect of percutaneous vertebroplasty combined with (125)I seed implantation in the treatment of spinal metastatic epidural spinal cord compression].

Objective: To investigate the clinical efficacy of percutaneous vertebroplasty (PVP) combined with iodine-125 ((125)I) seed brachytherapy in the treatment of spinal metastatic epidural spinal cord compression (MESCC) and toassess the changes inthe grade of epidural spinal cord compression (ESCC) by magnetic resonance imaging (MRI). Methods: A total of 37 MESCC patients treated with PVP combined with (125)I seed brachytherapy in the interventional and vascular surgery department of Zhongda Hospital affiliated to Southeast University from January 2014 to June 2019 were retrospectively analyzed, including 23 cases of bilateral lower limbs paralysis. Total diseased vertebrae are 39 segments. Visual analogue scale (VAS) and paralysis of lower extremities were evaluated regularly before and after treatment, and VAS values at different follow-up time points were compared. At the same time, MRI was used to evaluate the changes of ESCC grade in the spinal canal and calculate the local lesion efficiency after operation. The postoperative local lesion efficiency at different follow-up times was compared. Results: PVP combined with (125)I seed implantation in all diseased vertebral bodies was successful. The average injection volume of polymethylmethacrylate (PMMA) was (3.2±1.3) ml/segment, the average number of (125)I seed implanted was (25.0±8.6) seeds/segment and the average radiation dose was (15.0±5.1) mCi/segment. The VAS before operation was 8.5, and postoperative VAS were respectively 3.6±1.3, 3.8±1.5, 3.4±1.4, 5.5±1.0, 5.9±1.4 at 5 days, 1 month, 3 months, 6 months, and 1 year after operation. The differences between all follow-up time points and preoperative VAS values were statistically significant (all P<0.001). Compared with 5 days, 1 month and 3 months after operation, VAS increased significantly at 6 months and 1 year after operation, and the difference was statistically significant (all P<0.001); there was no significant difference between the VAS value at 6 months after operation and 1 year after operation (P=0.405). At a follow-up of 3 months, 22 of 23 patients with paralysis of bilateral lower limbs regained the functions of autonomous walking and voiding; the effective rates of MESCC local lesions evaluated by MRI at 1 month, 3 months, 6 months, and>1 year were 89.7%, 91.9%, 90.6%, and 94.7%, respectively, and there was no statistically significant differences among those follow-up time points (all P>0.05). Conclusions: PVP combined with (125)I seed brachytherapy in the treatment of MESCC has significant improvement in immediate pain relief and spinal cord function. After combined treatment, MRI showed that the tumors around the spinal cord regressed dramatically, which could considerably reduce the MESCC grade and remain stable for a long time.

[The differential diagnosis for novel coronavirus pneumonia and similar lung diseases in general hospitals].

Novel coronavirus pneumonia was a novel coronavirus infection that has dominated pulmonary infection since December 2019. The main manifestations were fever, dry cough, shortness of breath, normal or leukopenia in peripheral blood and changes in chest CT and in severe cases, multiple organ failure might occur. The National Health Commission, PRC has revised the consensus on diagnosis and treatment seven times in a short period of time, indicating the growing understanding of the disease. Patients with novel coronavirus pneumonia usually had history of travelling or living in the epidemic area including Wuhan within 14 days before onset, or have been exposed to patients who had fever or respiratory symptoms from the epidemic area, or had clustering diseases. However, novel coronavirus pneumonia was becoming more and more blurred after vanishing epidemic. The diagnosis and differential diagnosis of novel coronavirus pneumonia were challenges not only because of large number of tourists increasing dramatically after the relieving of epidemic, but also patients with other diseases from different areas to search for medical care. In this article, the clinical and chest imaging features of the novel coronavirus pneumonia were reviewed and compared with other infections and non-infectious diffuse pulmonary diseases. We try to find the similarities and differences among them, and to identify clues to the diagnosis of novel coronavirus pneumonia, so as to ensure accurate diagnosis and treatment.

Factors associated with overall survival and relief of dysphagia in advanced esophageal cancer patients after 125I seed-loaded stent placement: a multicenter retrospective analysis.

Iodine-125 (125I) seed-loaded stent placement has served as an effective palliation for malignant esophageal strictures in China. We performed a retrospective study to identify the prognostic factors of this irradiation stent placement in advanced esophageal cancer patients. A total of 201 patients who underwent 125I seed-loaded stent placement were included in this study from June 2012 to March 2016 at five hospitals in China. The Cox regression models adjusted for stratification factors were used, and a stepwise multivariate analysis was performed to predict the overall survival and relief of dysphagia on the basis of pretreatment clinical characteristics, respectively. Three independent prognostic factors were identified for overall survival: histopathological subtype (squamous cell carcinoma vs. adenocarcinoma, hazard ratio [HR] 1.45, 95% confidence interval [CI95%]: 1.01-2.09, P = 0.046), serum total protein (≥66 g/L vs. <66 g/L, HR 0.61, CI95%: 0.48-0.59, P = 0.023), and performance status (<2 vs. ≥2, HR 1.57, CI95%: 1.09-2.08, P = 0.013). Four factors were significantly associated with the relief of dysphagia: T stage (T3 vs. T4, P = 0.003), tumor location (superior vs. inferior, P = 0.049), tumor-node-metastasis classification (IV vs. II, P = 0.025), and age (≥71 years vs. <71 years, P = 0.029). Prognostic factors identified from this analysis can be used to aid clinical decision-making and design future clinical trials.

[Cement augmentation for vertebral osteolytic metastatic lesions: an evaluation on postoperative CT].

Objective: To evaluate the effectiveness of cement augmentation on the osteolytic lesion in patients with vertebral metastasis. Methods: A total of consecutive 132 patients with 268 vertebral metastatic lesions treated with PVP from January 2008 to December 2016 in Zhongda Hospital were enrolled in this study. Retrospective analysis of preoperative, postoperative 3 days, 3 months, 6 months, 12 months and ≥ 18 months imaging data on CT, the local control and progression of the tumor were evaluated by MDA response criteria. The local control rates were compared between the groups with the different rate of cement filling by Chi2-test. Results: Vertebroplasty procedures were performed successfully in all 268 vertebrae under DSA guidance, and the mean volume of PMMA injected in each vertebra was 0.7-8.5(3.9±1.5)ml.The rate of local control at 3 months, 6 months, 12 months and ≥18 months after PVP was respectively 98.9%, 95.1%, 91.8%, and 85.2%, the difference was statistically significant(all P<0.05). The local control rate showed a statistically significant relationship to the groups with the rate of cement filling at 6 months, 12 months and ≥18 months after PVP, but there was no statistical difference at postoperative 3 months. The rate of local control was higher in 68 patients with lung or gastrointestinal cancer than in 17 patients with liver or kidney cancer at 3 months, 6 months and 12 months, the difference was statistically significant (P<0.05). Conclusion: Cement augmentation has a local anti-tumor effect on vertebral osteolytic metastatic lesion, and the anti-tumor effect will decrease as the follow-up time extended.

[The clinical characteristics of 346 patients with IgG4-related disease].

Objective: To analyze the clinical characteristics of IgG4-related disease (IgG4-RD)so as to improve the understanding of IgG4-RD in China. Methods: IgG4-RD patients were recruited from Peking Union Medical College Hospital between January 2011 and January 2016. All patients were followed-up for more than 6 months. The demographic characteristics, symptoms, organ involvements, laboratory examinations and treatment efficacy were evaluated and analyzed. Results: A total of 346 patients were finally enrolled, including 230 males (66.5%) and 116 females (33.5%). The mean age of disease onset was (53.8±14.2) years old. The mostly common involved organs were lymph nodes (56.4%) and submandibular glands (52.6%). Other affected organs and manifestations included: swelling of the lacrimal glands (46.5%), autoimmune pancreatitis (38.4%), pulmonary involvement (28.0%), sclerosing cholangitis (25.4%), naso-sinusitis (23.4%), parotid gland swelling (21.7%), retroperitoneal fibrosis (19.9%), large arteries involvement (9.5%), kidney involvement (obstructive nephropathy caused by retroperitoneal fibrosis was excluded) (6.9%), skin lesions (6.4%). Rare features consisted of thyroid glands, pituitary glands, gastrointestinal tract, pachymeningitis, pericardium, sclerosing mediastinitis and orchitis. The majority of patients had multi-organ involvement, such as 74.3% patients with 3 and more, 18.2% and 7.5% patients with 2 and single organ involvement respectively. The average IgG4-RD responder index (IgG4-RD RI) was 13.21±5.70. History of allergy was found in 172 (49.7%) patients. As to the laboratory tests, elevated serum IgG4 levels were confirmed in 285 (94.1%) patients, which was positively correlated with IgG4-RD RI. There were 33.5% patients receiving monotherapy of glucocorticoid, 52.6% treated with glucocorticoids combined with immunosuppressive agents, 4.9% patients with immunosuppressant only, and 9.0% patients with mild disease not receiving medication. The majority (336, 97.1%) patients improved the above regimens. Conclusion: IgG4-RD is a systemic fibro-inflammatory disease with multiple organ involvement. The mostly common involved organs include lymph node, submandibular glands, and pancreas. Glucocorticoids and immunosuppressive agents were effective for IgG4-RD.

[Oblique puncture approach via anterolateral to C2: a study of imaging anatomy on corpses].

Objective: To determine the anatomical relation between the carotid artery or laryngopharynx and the needle path via anterolateral oblique approach to C2 vertebral body, and whether the simulated path can direct the actual procedure. Methods: Contrast agent was injected into bilateral carotid arteries of 10 fresh cadavers (20 sides), and then CT scans were performed on each subject. Bilateral simulated puncture paths were simulated on the image of two-dimensional reconstruction CT. The distance between the puncture site and middle line(AC), the angle between the simulated puncture paths and the median sagittal plane (AOB), the distance between the simulated puncture paths and the side wall of hypopharynx, or the carotid artery was measured respectively. Under the guidance of fluoroscopy, oblique puncture via anterolateral to C2 was performed according to the simulated parameters, and then CT was done. The actual needle path was measured on the image of two-dimensional reconstruction CT. The outcomes were compared by using paired t test between groups. Results: Bilateral simulated puncture paths in all 10 cadavers were achieved on the image of CT. The bilateral punctures via anterolateral to C2 were successfully performed under fluoroscopic guidance in 10 cadavers, and the actual needle path could be showed on the image of two-dimensional reconstruction CT. The AC, angle AOB, the distance to carotid artery and side wall of laryngopharyngeal of the left simulated path was(4.7±1.0)cm, (33±8)°, (6.7±2.6)mm, (6.6±2.8)mm, respectively; and those in the right side was(5.2±1.3) cm, (36±8)°, (7.5±2.2) mm, (7.2±2.5) mm, respectively.The AC, angle AOB, the distance to carotid artery and side wall of laryngopharyngeal of the left actual needle was(4.5±1.1) cm, (33±9) °, (6.7±3.0) mm, (7.1±3.9) mm, respectively; and those in the right side was(5.1±1.5) cm, (35±10) °, (7.4±2.1) mm, (7.2±2.6) mm, respectively.And the actual and simulation data of both sides were compared and no significant differences was found by t test (t=0.104-1.882, all P>0.05). Conclusion: The simulated approach via anterolateral to C2 can be achieved on the image of two-dimensional reconstruction CT, it is consistent with the real needle path and can be used to direct the actual practice to improve the accuracy and safety.

[A retrospective study of 10 cases of post-transplant bronchiolitis obliterans].

Objective: To analyze the clinical features of bronchiolitis obliterans syndrome (BOS) in patients with allogeneic hematopoietic stem cell transplantation (HSCT). Methods: This retrospective study included patients who underwent allogeneic HSCT from January 1998 to December 2016. The clinical features, radiological manifestations and treatment of clinically proven BOS were reviewed. Results: Of 681 patients who experienced HSCT, 10(1.47%) met the diagnostic criteria. The duration of BOS onset after transplantation was 5-48 months, averaging (18±15) months. Cough and worsening dyspnea were present in most cases, and 9 (90%) of the cases had manifestations of chronic graft versus host disease. Hyperinflation with areas of decreased attenuation and bronchiectasis were present in 7 (70%) cases and air trapping was present during the expiratory phase of imaging. The management of BOS consisted of high dose systemic corticosteroids and immunosuppressive therapy. Patients were treated with bronchodilators if they were symptomatic and during acute exacerbations of respiratory symptoms. In 5 (50%) patients the condition deteriorated and caused death, while in 3 patients the condition was improved. Two patients were lost to follow up. Conclusion: BOS is the most common late noninfectious pulmonary complication following allogeneic HSCT and has a poor prognosis.

[Perioperative management and surgical treatment of neurosurgical critical patients with thrombocytopenia].

OBJECTIVE: To study the perioperative management and surgical treatment of patients with neurosurgical critical diseases and thrombocytopenia. METHODS: Eleven patients with the diagnosis of neurosurgical critical diseases and thrombocytopenia who received surgical treatment in Department of Neurosurgery, Peking Union Medical College Hospital from 2010 to 2015 were reviewed retrospectively. All eleven patients received platelet transfusions preoperatively. The safety and efficacy of surgical treatment were analyzed by GOS score at 6 months after operations. RESULTS: Platelet counts of six patients who received minimally invasive surgery reached 80×10(9) /L by platelet transfusions preoperatively. Platelet counts of five patients who received Craniotomy and ventriculoperitoneal shunt reached 100×10(9) /L by platelet transfusions preoperatively. Eight patients received platelet transfusions postoperatively according to a low platelet count 24 hours after operations. Two patients died after surgery and one died after discharge. All other eight survival patients got well recovery with an average GOS score of 4.5 at six months after operations. CONCLUSIONS: Patients with neurosurgical critical diseases and thrombocytopenia could receive surgical treatment in collaboration with relative departments.

Dual-source dual-energy computed tomography angiography for active gastrointestinal bleeding: a preliminary study.

AIM: To assess the utility of dual-source dual-energy computed tomography angiography (DSDECTA) in the diagnosis of active gastrointestinal bleeding (GIB). MATERIALS AND METHODS: From June 2010 to September 2011, 58 consecutive patients with clinical signs of active GIB underwent DSDECTA. Two radiologists, blinded to clinical data, interpreted images from DSDECTA independently, with discordant interpretation resolved by consensus. The standards of reference included digital subtraction angiography, endoscopy, surgery, or final pathology reports. Sensitivity, specificity, positive (PPV) and negative (NPV) predictive values, and accuracy of DSDECTA for detection of active GIB were evaluated. Receiver-operating characteristic (ROC) analysis was undertaken and the area under the curve (AUC) calculated. RESULTS: Active GIB source was identified in 39 of 58 patients (67.2%), all of which were confirmed by one or more reference standard. Negative DSDECTA results were obtained in 19 patients (32.8%). Of these, 15 patients did not require any further intervention and were discharged without incident. The overall sensitivity, specificity, PPV, NPV, and accuracy of DSDECTA was 88.6, 100, 100, 73.7, and 91.4%, respectively. The AUC was 0.935 ± 0.063. The dose reduction of a dual-phase DSDECTA protocol was approximately 30%, compared with that of a triple-phase protocol used in a previous study. CONCLUSION: DSDECTA can act as an accurate method for detection and localization of active GIB and has a relatively low radiation dose.

Effect of replacing corn straw by sweet sorghum silage or whole plant corn silage in sheep diets on rumen fermentation and bacterial flora.

Sweet sorghum silage (SS; Sorghum dochna 'Dochna') has been extensively studied in recent years as a supplementary forage-to-corn silage (CS; Zea mays L.), but there are still relatively few studies on its effects on the rumen environment of sheep. Determining the short-term impact of converting roughage from corn straws to SS compared to CS on rumen fermentation and bacterial population dynamics was the main goal of the current study. Twelve female thin-tailed Han sheep (29.8 ± 1.34 kg) were randomly divided into one of two treatments: concentrate supplemented with SS or CS, respectively. During the 15-day pretest period, concentrate was fed in two separate feedings at 0800 h and 1800 h, and ensure that the animals were all consumed within an hour of being fed. Thereafter, the animals had free access to corn straw. The feeding procedures during the pretest period were the same as during the measurement period. Rumen fluid was collected via sheep esophageal tube on the last day of adaptation phase (1-7 days) and stabilisation phase (8-30 days), respectively. The results showed that there was a similarity in the total concentration of VFA (volatile fatty acid) and the proportions of acetate, propionate, butyrate, and branched-chain VFA (P > 0.05) and microbial diversity indices (P > 0.05) between the two silage groups throughout the experimental period. The concentration of Ammonia nitrogen (P = 0.001) and proportion of valerate (P = 0.028) decreased in the CS and SS groups, respectively. The abundance and predicted function of rumen bacteria in the SS group did not differ significantly (P > 0.05) between the two measurement phases. However, the abundance of Prevotella_1 (P = 0.038) was higher in the CS group than in the SS group at 7 d. The abundances of Firmicutes (P = 0.005) and Ruminococcaceae_NK4A214_group (P = 0.002) increased, while the abundances of Bacteroidetes (P = 0.044), Proteobacteria (P = 0.046), and Prevotella_1 (P = 0.009) decreased in the CS group at 30 d. Genes related to pyruvate metabolism (P = 0.020) were significantly higher at 30 d than at 7 d, whereas purine metabolism (P = 0.007), pyrimidine metabolism (P = 0.007), and metabolic pathways (P = 0.010) were lower at 30 d in the CS group. In conclusion, this study indicated that SS maintained a steady rumen environment, while CS caused high fluctuations in bacterial abundance and predicted function for sheep.

Clinical characteristics, genes identification and follow-up study of a patient with central venous thrombosis from a protein S deficiency pedigree.

OBJECTIVE: To explore the clinical and prognostic features of CVT caused by PROS1 gene mutations and to provide clinical experience for new oral anticoagulants, such as rivaroxaban, in the treatment of CVT with a high risk of thrombosis. PATIENTS AND METHODS: The CVT patient's clinical symptoms were described, and the brain imaging and blood coagulation tests were performed to confirm the diagnosis of CVT. The patient's family members were recruited to receive blood coagulation tests and ultrasonic examination of lower limb vessels. Genetic analysis on the pedigree was carried out to identify the responsible gene for PS deficiency. We followed-up with this patient for 24 months to evaluate the clinical outcomes, laboratory results and imaging performances of CVT. RESULTS: The patient presented with typical CVT symptoms, including headache and epilepsy. Brain CT showed hemorrhage in the bilateral frontal lobe and left occipital lobe, while MRV demonstrated that thrombus had occurred. It was reviewed that the patient and his mother had a history of bilateral leg deep vein thrombosis. Gene tests revealed that the patient and two family members carried a heterozygous mutation of PROS1 (c.751_752delAT, p.M251Vfs*17). During 24 months of follow-up study, the patient was treated with rivaroxaban continuously and recovered well, supported by an mRS score that remained below 2. Blood coagulation tests were within normal limits, and MRV revealed partial recanalization of the cerebral venous sinus. CONCLUSIONS: The frame shift mutation in the PROS1 gene (c.751_752delAT) may greatly affect the function of protein S and lead to a severe phenotype of CVT. Rivaroxaban showed a satisfying therapeutic effect in this CVT patient with hereditary thrombophilia.

T594M and G442V polymorphisms of the sodium channel beta subunit and hypertension in a black population.

Polymorphisms of the epithelial sodium channel may raise blood pressure by increasing renal sodium reabsorption. This study examines frequency distributions and associations with hypertension of the T594M and of the G442V polymorphisms of the beta subunit of the epithelial sodium channel in a population-based sample. We studied a stratified random sample of 459 subjects (279 women), aged 40-59 years, of black African origin from general practices' lists within a defined area of South London. All were first generation immigrants. The polymorphic variants were detected using single strand conformational polymorphism technique (SSCP). The prevalence of hypertension (BP > or =160 and/or 95 mm Hg or on drug therapy) was 43%; of these, 76% were on drug therapy. The main analysis was carried out by three ordered blood pressure categories (I to III) according to increasing blood pressure and presence or absence of drug therapy. The frequency of the 594M variant (heterozygotes and homozygotes) was 4.6%; the frequency of the 442V variant was higher (27.0%). The frequency of the 594M variant increased with increasing blood pressure category (P = 0.05) and was more common in hypertensives than normotensives. By contrast the frequency of the 442V variant did not vary across increasing blood pressure categories (P = 0.62). No gender difference was observed. Adjustment for age, sex and body mass index did not alter these findings. These results suggest that the 594M variant may contribute to high blood pressure in black people of African origin whereas the G442V polymorphism is unlikely to influence blood pressure in this population.

Molecular cloning and characterization of a novel testis-specific nucleoporin-related gene.

A 20-kDa sperm membrane protein cDNA, designated as RSD-1, was isolated by epitope selection from a rat testis lambda gtll expression library. RSD-1 was used as a probe to screen a human testis lambda ZAPII cDNA expression library. A cDNA designated as BS-63 was isolated and found to consist of 1933 bp with an open reading frame of 1824 bp and assigned the accession number U64675 by GenBank. The deduced polypeptide consisted of 608 amino acid residues containing XFXFG or FG motifs that are characteristic of nuclear pore complex (NPC) proteins and act as potential binding sites for Ran. The N-terminal region has high homology with RanBP2/Nup358, a nucleoporin component, showing that BS-63 is a member of the NPC family. Northern blot analysis of mRNAs prepared from various human tissues shows that BS-63 is transcribed in two forms: 6.0 and 8.5 kb. The 8.5-kb transcript was present in low amounts in several somatic tissues, whereas the 6.0-kb transcript is expressed only in testis. In situ hybridization analysis of human testis sections showed that BS-63 mRNA is expressed only in germ cells at all stages of spermatogenesis. Sertoli cells did not transcribe the gene.