Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations / 中华医学杂志(英文版)

BACKGROUND@#Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations.@*METHODS@#Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School of Medicine. Mutations were screened by whole-exome sequencing. In addition, clinical features such as AAO, onset site and disease duration were extracted and compared between JALS patients carrying FUS and SPTLC1 mutations through a literature review.@*RESULTS@#A novel and de novo SPTLC1 mutation (c.58G>A, p.A20T) was identified in a sporadic patient. Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective SPTLC1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with SPTLC1 mutations had an earlier AAO (7.9 ± 4.6 years vs. 18.1 ± 3.9 years, P  < 0.01), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P  < 0.01), and no onset of bulbar.@*CONCLUSION@#Our findings expand the genetic and phenotypic spectrum of JALS and help to better understand the genotype-phenotype correlation of JALS.

The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China / 中华神经科杂志

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions / 医学前沿

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%-80.7%) in relatives and 74.5% (95% CI 70.2%-78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.

Study on Acute Toxicity and Anti-inflammatory Effects of Coffee Residue Extract / 世界科学技术-中医药现代化

This study was aimed to preliminarily evaluate the acute toxicity and anti-inflammatory effects of coffee residue extract. The test maximum tolerated dose was applied in mice by gavage to observe the acute toxicity of coffee residue extract. Mice acute inflammation model was induced by xylene and glacial acetic acid. The gavage administration of coffee residue extract (1.00, 2.00, 3.00 g?kg-1, in terms of crude drug) was given 7 days con-tinuously. The ear swelling rate and celiac capillary permeability were measured. The results showed that the ex-tract of coffee residue maximum tolerated dose in mice is 8 . 60 g?kg -1 ( in terms of crude drug ) . The coffee residue extract of 3 . 00 g?kg-1 is able to inhibit ear swelling induced by xylene in mice ( P < 0 . 05 ) and the ex-cessive celiac capillary permeability ( P < 0 . 05 ) . It was concluded that the coffee residue extract have certain an-ti-inflammation activities.

Clinical analysis of comprehensive interventional therapy in treatment of lower extremity deep venous thrombosis / 中国基层医药

Objective To study the treatment efficacy and safety of transjugular filter implantation combined with dorsal venous pressure thrombolysis in the treatment of lower extremity deep venous thrombosis.Methods According to the random digital methods,80 patients with lower extremity venous thrombosis were divided into 2 groups,40 cases in each group.The observation group was given jugular vein filter implantation combined with dorsal venous pressured thrombolysis guided by the radiologic intervention,and control group was individually given the dorsal vein of foot pressure thrombolytic therapy.After treatment,the clinical effect was compared between the two group.Results The application of urokinase aggregates and thrombolysis time in the observation group were significantly lower than those in control group,thigh and calf circumferences reduced length before and after thrombolytic therapy in the observation group increased significantly than those in the control group(t =1.35,5.42,1.83,0.89,all P ＜ 0.05).The total effective rate of the control group was 60％,which was significantly lower than that of the observation group 85％ (x2 =3.85,P ＜0.05).The incidence rate of complication in the control group was 32.50％,that in the observation group was 30％,there was no statistically significant difference between the two groups(x2 =0.67,P ＞ 0.05).Conclusion Transjugular filter implantation combined with dorsal venous pressure thrombolysis in the treatment of lower extremity venous thrombosis has better efficacy and safety.

The value of magnetic resonance T1 perfusion imaging in differentiating benign and malignant breast tumors / 中国基层医药

Objective To investigate the value of magnetic resonance perfusion imaging in differentiating benign and malignant breast tumors.Methods The subjects were confirmed by magnetic resonance perfusion imaging in the diagnosis of breast lesions in 68 patients,and histopathologic examination of the control and analysis of its results.Results After perfusion weighted magnetic resonance imaging line parallel operation therapy,68 cases breast lesions in patients with pathologically confirmed,32 cases of benign tumor and malignant tumor in 36 cases;further observations on lesions of the morphology and dynamic enhanced performance,rendering their time-signal intensity curve,benign tumor type (inflow),type Ⅱ (platform) and type Ⅲ (clearance type) were 78.1％ (25/32),18.7％ (6/32),3.2％ ( 1/32),malignant tumor were 2.8％ ( 1/36 ),33.3％ ( 12/36 ),63.9％ ( 23/36 ),two groups had significant difference (P ＜ 0.05).Conclusion Mr T1 perfusion imaging for differentiating benign and malignant breast tumors have high application value,and has the advantages of simple operation,noninvasive advantages,worthy of clinical application.

Applied research of selective bronchial arterial embolization for severe hemoptysis / 中国医师进修杂志

Objective To observe the clinical curative effect of selective bronchial arterial embolization for severe hemoptysis.Methods Thirty-eight hospitalized patients with severe hemoptysis was enrolled in this study.Of which 31 patients were recurrent hemoptysis,27 patients were with bronchiectasis,4 patients were with bronchial lung cysts,4 patients had unknown causes,3 patients were with tuberculosis.All patients were diagnosed by chest imaging examination,fiber bronchoscopy,bronchial arteriography,and they were all treated by selective bronchial arterial embolization.Results The most times of embolization was 3,and bronchial arterial imaging were performed for vascular malformation.After having bronchial arterial embolization,35 patients were immediately released of bleeding.Postoperative 24 h,8 patients had hemoptysis again,of which 1 case was performed with conservative treatment and subsequently had pneumonectomy,5 patients had effective conservative treatment,2 cases were performed embolization again after failed conservative treatments.Hemoptysis completely disappeared within 1 week.The total effective rate was 97.4％(37/38).Patients were followed up for 1 year,of which 13 patients relapsed again,11 patients'annual and each time's quantity of hemoptysis reduced 50％.Two patients had pneumonectomy after a number of embolization.The total effective rate was 94.7％ (36/38).After treatment,3 patients had mild chest pain in short time,2 patients had shoulder pain,3 patients had chest tightness,and 3 patients had subcutaneous passive congestion.After being treated for short-term,these symptoms disappeared eventually.Conclusion Selective bronchial arterial embolization for the treatment of acute or recurrent severe hemoptysis is very effective,and can avoid the risk of surgery.It is effective for recurrent cases and worthy of clinical application.

Clinical observation of transarterial infusion chemotherapeutics in treatment of advanced pancreatic carcinoma / 中国基层医药

Objective To investigate the efficacy and toxicity of infusion of chemotherapeutics through artery to treat advanced pancreatic carcinoma. Methods 46 patients with advanced pancreatic carcinoma were divided into experiment group ( n = 24) and control group ( n = 22). The way of administration of experiment group and control group were through artery or through vein respectively. Results Objective remission rate was 45.83% (11/24) clinical benefit rate was 58.33% (14/24) .median survival time was 16 months(from6 ～23months) in infusion-through-artery group, while those in infusion-through-vein group were18. 18% (4/22) ,27. 27% (6/22) ,7 months (from 3 -18months) respectively. All had significant diferences between two groups (P ＜ 0.05). Conclusion To treat patients with advanced pancreatic carcinoma,transarterial infusion chemotherapeutics was more effective,the toxicity was endurable.

Clinical study on prophylactic treatment with Clostridium Butyricum Powder for preventing childhood diarrhea after pneumonia / 中国基层医药

ObjectiveTo observe and evaluate the efficacy of Clostridium Butyricum Powder for preventing childhood diarrhea after pneumonia. Methods176 infants with pneumonia were randomly divided into two groups,100 infants as prevention group, another 76 infants as control group. With normal antibacterial therapy,and two hours afterwards. Clostridium Butyricum Powder was administered at doses of 0.5g three times a day,in prevention group.After diarrhea taken place, Clostridium Butyricum Powder was administered at doses of 0. 5 g three times a day, in control group. Clinical effect and untoward effect were observed. ResultsThe incidence of pneumonia-induced diarrhea was 9% in prevention group,and was 46. 8% in control group( P < 0. 01 ). Duration of diarrhea and course of the treatment in prevention group as compared to those in the control group were statistically significant( P < 0. 01 ).Adverse reaction was not found. ConclusionClostridium Butyricum Powder can prevent diarrhea after pneumonia with antibacterial therapy.

Clinicopathology and imaging findings of primary pulmonary sarcomatoid carcinoma / 中华放射学杂志

Objective To investigate the clinical pathological features and imaging findings of primary pulmonary sarcomatoid carcinoma. Methods Fifteen patients with a pathologically verified primary pulmonary sarcomatoid carcinoma were reviewed retrospectively. Fourteen patients had CT examinations and I0 of them had contrast-enhanced CT scan. Nine patients had chest plain films. Results Of 15 patients, 14 were peripheral and 1 was central, diameters ranging from 2.5 cm to 9.5 cm. Five located in the upper, 3 in the middle and 4 in the lower lobe of the right lung. The other 3 located in the upper left lobe. All cases presented with a spheroid solid lung mass on chest plain film and CT examinations. Three had irregular eccentric cavities. Six were well demarcated, 2 were ill defined, 4 were lobulated and 3 were speculated. The central case had obstructive pneumonia and showed ill defined. Ten showed irregular peripheral heterogeneous contrast enhancement. The center part of the tumor showed no enhancement or inhomogeneous enhancement. Seven had thoracic wall or pleural invasion, 4 had hilar or mediastinal lymphopathy and 2 had metastasis. Histopathologically, 8 were pleomorphic carcinoma, 2 were spindle cell carcinoma, 3 were giant cell carcinoma and 3 were pulmonary blastomas. Conclusion The X-ray and CT findings of the primary pulmonary sarcomatoid carcinoma are not specific. The clinicopathologic features were the evidence of diagnosis.

Investigation and Exploration of Units-Teaching of Pathophysiology in School of Continuing Education / 中华医学教育探索杂志

To ignite medical students' interest in pathophysiology,cultivate their creativity and ability in clinical practice,the Department of Pathophysiology in Xiangya School of Medicine of Central South University has implemented the units-teaching pattern in combination with problem-based learning(PBL)in 345 students enrolling in the school of continuing education of Central South University in 2006.The experiment has received positive feedback and wide approval from the students.