Comparison on TACE+microwave ablation+programmed death-1 and TACE+microwave ablation for treating primary hepatic carcinoma / 中国介入影像与治疗学

Objective To compare the value of TACE+microwave ablation(MWA)+programmed death-1(PD-1)and TACE+MWA for treating primary hepatic carcinoma(PHC).Methods Data of 80 PHC patients who underwent TACE+MWA+PD-1(observe group)or TACE+MWA treatment(control group)were retrospectively analyzed(each n=40).The baseline data,therapeutic efficacy of PHC and complications were compared between groups.Results No significant difference of baseline data was found between groups(all P＞0.05).The objective response rate(ORR)of observe group and control group was 90.00％and 72.50％,respectively,while the disease control rate(DCR)was 97.50％and 95.00％,respectively,with no significant difference between groups(both P＞0.05).The median overall survival(OS)of observe group and control group was 30.80 months and 15.70 months,respectively,while the median progression free survival(PFS)was 23.35 months and 6.80 months,respectively.OS and PFS of observe group were both longer than those of control group(both P＜0.05).No significant difference of the incidence of complications was detected between groups(all P＞0.05),and all were improved after symptomatic treatment.Conclusion TACE+MWA+PD-1 was superior to TACE+MWA for treating PHC.

Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses / 中华儿科杂志

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.

Multi-section ultrasonic diagnosis and classification of congenital clubfoot / 中华超声影像学杂志

Objective:To evaluate and analyze the ultrasonic findings of idiopathic clubfoot and positional clubfoot deformities.Methods:Forty-nine newborn babies with congenital clubfoot were examined in the Department of Ultrasound of the Third Affiliated Hospital of Zhengzhou University from December 2020 to January 2022, Including 21 newborn babies(32 feet) with idiopathic clubfoot, and 28 babies(53 feet) with positional clubfoot. Twenty-two normal infants in the same period and the normal feet of the single clubfoot were selected as control group. The distance between medial malleolus and scaphoids of all feet were measured by ultrasound. The distance from the tangent line of the lateral edge of calcaneus to the midpoint of the lateral edge of the chondroid bone, medial soft tissue thickness and tibial calcaneal angle were measured by ultrasound. The data of idiopathic clubfoot group, positional clubfoot group and control group were statistically analyzed.Results:A total of 71 newborn babies with 142 feet were evaluated.The idiopathic clubfoot group had born and joint changes in the medial, lateral and posterior side, and the differences were statistically significant compared with the control group (all P<0.05). Compared with the control group, there were statistically significant differences in the medial and lateral side of the positional group(all P<0.05). But no significant changes in the posterior side( P>0.05). There were significant differences between medial and posterior side of idiopathic and positional clubfoot group (all P<0.05), but no significant differences in lateral side ( P>0.05). Conclusions:Ultrasonography can clearly display the tarsus bones in clubfoot, and observe the deformity changes of the idiopathic clubfoot and positional clubfoot.

Comparison on efficacy and safety of TACE combined with 125I seeds implantation or lenvatinib for treating hepatocellular carcinoma complicated with portal vein tumor thrombosis / 中国介入影像与治疗学

Objective To comparatively observe the efficacy and safety of TACE combined with 125I seeds implantation or lenvatinib for treating hepatocellular carcinoma(HCC)complicated with portal vein tumor thrombosis(PVTT).Methods Totally 52 HCC patients complicated with type Ⅱ or type Ⅲ PVTT were enrolled and divided into TACE combined with 125I seeds group(group A,n=27)and TACE combined with lenvatinib group(group B,n=25).Objective response rate(ORR),overall survival(OS)and incidence rate of adverse reaction were compared between groups.Results ORR,the median OS,median OS of type Ⅱ PVTT and median OS of type Ⅲ PVTT was 70.37%(19/27),13.6 months,14.1 months and 13.2 months in group A,and 32.00%(8/25),11.3 months,12.3 months and 10.4 months in group B,respectively.The above indexes in group A were all better than those in group B(all P＜0.05).In group A,the incidence rate of adverse reaction was 48.15%(13/27),and no serious complication occurred.In group B,the incidence rate of adverse reaction was 88.00%(22/25),and severe drug toxicity was noticed in 5 cases(5/25,20.00%).Conclusion The efficacy and safety of TACE combined with 125I seeds were both better than those of TACE combined with lenvatinib for treating HCC complicated with PVTT.

Expert Consensus for Thermal Ablation of Pulmonary Subsolid Nodules (2021 Edition) / 中国肺癌杂志

"The Expert Group on Tumor Ablation Therapy of Chinese Medical Doctor Association, The Tumor Ablation Committee of Chinese College of Interventionalists, The Society of Tumor Ablation Therapy of Chinese Anti-Cancer Association and The Ablation Expert Committee of the Chinese Society of Clinical Oncology" have organized multidisciplinary experts to formulate the consensus for thermal ablation of pulmonary subsolid nodules or ground-glass nodule (GGN). The expert consensus reviews current literatures and provides clinical practices for thermal ablation of GGN. The main contents include: (1) clinical evaluation of GGN, (2) procedures, indications, contraindications, outcomes evaluation and related complications of thermal ablation for GGN and (3) future development directions.
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Qidong Yixin Oral Liquid Activates Nrf2/HO-1 Signaling Pathway to Alleviate Adriamycin-induced Myocardial Injury in Mice / 中国实验方剂学杂志

<b>Objective::To study the protective effect and mechanism of Qidong Yixin oral liquid on doxorubicin-induced myocardial toxicity in mice. <b>Method::Ninety male ICR mice were randomly divided into normal group, model(DOX) group, DOX+ Qidong Yixin oral liquid group (9.55, 23.88, 47.75 g·kg^-1) and high dose group (47.75 g·kg^-1) with 15 mice in each group. The normal group and model group were given pure water by gavage, and each dose group of Qidong Yixin oral liquid was given different doses of Qidong Yixin oral liquid once a day for 21 days. On the seventh day, normal saline was injected into the abdominal cavity of the normal group and the high dose group of Qidong Yixin oral liquid. Doxorubicin was injected into the abdominal cavity of the other groups (15 mg·kg^-1). After 21 days, the weight and heart weight of mice were weighed and cardiac index was calculated. Serum was taken for the detection of lactate dehydrogenase (LDH), creatine kinase (CK), aspartate aminotransferase (AST). Heart was taken for hematoxylin-eosin (HE) staining, superoxide dismutase (SOD), glutathione peroxidase (GSH-PX), catalase (CAT) in myocardial tissue were detected. The expression of nuclear factor NF-E2 related factor (Nrf2) and heme oxygenase-1 (HO-1) were detected by Western blot. <b>Result::Compared with normal group, adriamycin could significantly reduce the body weight of mice (<italic>P</italic><0.01), increase the activities of LDH, CK and AST in serum(<italic>P</italic><0.01), and decrease the activities of antioxidant enzymes (<italic>P</italic><0.01). Compared with DOX group, high dose Qidong Yixin oral liquid could significantly increase the weight of mice (<italic>P</italic><0.05, <italic>P</italic><0.01), decrease the level of myocardial three enzymes(<italic>P</italic><0.01), increase the activity of antioxidant enzymes(<italic>P</italic><0.05, <italic>P</italic><0.01), and increase the expression of Nrf2 and HO-1(<italic>P</italic><0.01). <b>Conclusion::Qidong Yixin oral liquid has a good protective effect on doxorubicin myocardial toxicity. Its mechanism may be related to activating Nrf2/HO-1 signaling pathway and alleviating oxidative stress injury.

Electrical and clinical study of the synchronous occipital and frontopolar spikes phenomenon / 中国实用儿科杂志

OBJECTIVE: To study the clinical characteristics of epileptic patients with synchronous occipital and frontopolar spikes phenomenon. METHODS: The clinical data,EEG features of patients with synchronous occipital and frontopolar spikes phenomenon were retrospectively reviewed. RESULTS: Totally 34 male and 21 female patients had synchronous occipital and frontopolar spikes. Ages at the time of recording the synchronous occipital and frontopolar spikes phenomenon ranged from 2 years 6 months to 14 years with the median age of 6 years 6 months. In the total 55 patients,12 patients had contralateral synchronous discharges,12 patients had ipsilateral synchronous,17 patients had bilateral synchronous discharges,7 patients had bilateral synchronous discharges tending to contralateral synchronously,and 7 patients had bilateral synchronous discharges tending to ipsilateral synchronously. Occipital preceded frontopolar discharges in 42 patients. Frontopolar preceded occipital discharges in 3 patients. The phase difference between the occipital and frontopolar spikes could not be distinguished in 10 patients. Based on the etiology and diagnoses,there was Panayiotopoulos syndrome in 33 patients,epilepsy with structural abnormality in 13 patients,secondary epilepsy due to immune encephalitis in 1 patient,epilepsy accompanied by inborn error of metabolism in 2 patients and epilepsy with unknown etiology in 6 patients. CONCLUSION: The synchronous occipital and frontopolar spikes phenomenon usually appears during childhood or develops from other discharge patterns in infancy stage. The synchronous occipital and frontopolar spikes phenomenon can be ipsilateral synchronous or contralateral synchronous discharges. The occipital spikes preceded frontopolar spikes in most patients. The synchronous occipital and frontopolar spikes phenomenon is mostly found in Panayiotopoulos syndrome,but it is also found in epilepsy with different etiologies.

Photosensitive tonic-clonic seizures:a continuum between focal and generalized seizures / 北京大学学报(医学版)

OBJECTIVE@#To investigate whether the tonic-clonic seizure (TCS) induced by intermittent photic stimulation (IPS)was generalized tonic-clonic seizure (GTCS)or partial secondarily tonic-clonic seizure (PGTCS),and to analyze the relationship between them.@*METHODS@#Video-electroencephalogram (VEEG)database of Peking University First Hospital from March 2010 to October 2018 were reviewed. Fifteen cases with idiopathic epilepsy who had TCS induced by IPS were included in this study, and their clinical and electroencephalogram (EEG)characteristics were retrospectively analyzed.@*RESULTS@#In this study, 4 of the 15 cases were boys and 11 were girls. The age of seizure onset ranged from 1 to 13 years. According to the medical records: 12 cases were considered as GTCS,while the remaining 3 cases were considered as PGTCS. The age at VEEG monitoring ranged from 2.5 to 16.0 years. All backgrounds of the VEEG were normal. Interictal discharges:generalized discharges in 11 cases, of which 4 cases coexisted with posterior discharges, 2 cases coexisted with Rolandic discharges, the other 5 cases merely had generalized discharges; merely focal discharges in two cases, one in the Rolandic area and the other in the posterior area; no interictal discharge in the remaining 2 cases. IPS induced photoparoxysmal response (PPR)results: 2 cases without PPR,the remaining 13 cases with PPR of generalized discharges, and 6 of the 13 cases coexisted with posterior discharges. IPS induced photoconvulsive response (PCR)results: GTCS in one case (contradictory to medical history),PGTCS in 11 cases (consistent with medical history),and GTCS and PGTCS hardly to distinguish in the remaining 3 cases. Of the three conditions above, there were generalized myoclonic seizures induced by IPS before TCS in 7 cases.@*CONCLUSION@#The medical history was unreliable in determining whether TCS was generalized or focal. Myoclonic seizures can coexist with PGTCS, and sometimes GTCS was indistinguishable from PGTCS, indicating that the dichotomy of seizure types need to be improved. Photosensitive TCS should be regarded as a continuum between focal and generalized seizures.

Application of scalp-recorded high-frequency oscillations in epileptic encephalopathy with continuous spike-and-wave during sleep / 北京大学学报(医学版)

OBJECTIVE@#To investigate the clinical significance of high-frequency oscillations (HFOs) on scalp electroencephalography (EEG) in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS).@*METHODS@#Twenty-one CSWS patients treated for epilepsy from January 2006 to December 2016 in Pediatric Department of Peking University First Hospital were enrolled into the study. Selected clinical variables including gender, age parameters, seizure frequencies and antiepileptic drugs were compared between (a). HFO-positive group and HFO-negative group before methylprednisolone treatment and (b). excellent seizure outcome group and not-excellent seizure outcome group after methylprednisolone treatment. Interictal HFOs and spikes in pre- and post-methylprednisolone scalp EEG were measured and analyzed.@*RESULTS@#Before methylprednisolone treatment, there were 12 of 21 (57%) CSWS patients had HFOs, with a mean value 43.17 per 60 s per patient. The 12 patients with HFOs tended to have more frequent epileptic negative myoclonus/atonic/myoclonus/atypical absences than those without HFOs in a month before methylprednisolone treatment. A total of 518 HFOs and 22 592 spikes were found in the pre-methylprednisolone EEG data of 21 patients, and 441 HFOs (86%) were associated with spikes. The highest amplitudes of HFOs were significantly positively correlated with that of spikes (r=0.279, P<0.001). Rates reduced by methylprednisolone treatment were statistically significant for both HFOs (P=0.002) and spikes (P=0.006). The percentage of reduction was 91% (473/518) and 39% (8 905/22 592) for spikes and HFOs, respectively. The percentage of spike and HFOs changes was respectively 100% decrease and 47% decrease in the excellent seizure outcome group, and they were 79% decrease and 18% increase in the not-excellent seizure outcome group.@*CONCLUSION@#Prevalence of HFOs might reflect some aspect of epileptic activity. HFOs were more sensitive to methylprednisolone treatment than spikes and had a good correlation with the prognosis of seizures, and HFOs could be applied to assess epilepsy severity and antiepileptic therapy.

Propeller flap with cutaneous branch of digital artery for skin defect at children’s thumb tip / 中华整形外科杂志

Objective@#To summarize the effect of propeller flap pedicled with cutaneous branch of digital artery for skin defect at children’s thumb tip.@*Methods@#From December 2012 to October 2015, 12 children with skin defects at thumb tip were treated. The nail matrix was kept in 4 cases, partly injuried in 8 cases. The skin defects size ranged from 1.0 cm×1.0 cm to 1.5 cm×2.0 cm, all more than the size of nail roots. A triangular flap on lateral side of thumb was designed with cutaneous branch of digital artery on thumb ulnar side at wound edge. The defects at donor sites were covered with skin grafts.@*Results@#The flap size ranged from 1.0 cm×1.0 cm to 1.5 cm×2.0 cm. All the flaps and skin grafts survived with primary healing. The children were followed up for 6-12 months(average, 8 months). The flaps had soft texture and good color match and thickness. The cosmeticresult was satisfactory with normal nail growth. According to the standard of the hands of the Chinese Medical Association functional evaluation trial, the hand function was assessed as excellent in 9 cases, good in 3 cases 6 months after operation.@*Conclusions@#Propeller flap with cutaneous branch of digital artery is suitable for the skin defect at children’s thumb tip with both satisfactory cosmetic and functionalresult . Themethod is easily performed with reliable venous drainage and less morbidity.

Effect of surgical arthrolysis treatment combined external support in the posttraumatic elbow stiffness combined with pain / 重庆医学

Objective To discuss clinical efficacy of patients treated with surgical treatment for posttraumatic elbow stiffness combined with pain.Methods From January 2011 to December 2014,release treatment was performed on 32 cases of posttraumatic contracture of the elbow combined with pain by operation.There were 22 males and 10 females,at average age of 39 years(range from 18 to 65 years).25 cases of these patients with mild-to-moderate pain got a simple elbow release operation.There were 4 cases of severe pain patients complicated with elbow dislocation,after fully release the elbows,reduction was performed under the direct;Both elbow arthrolysis and dermal transplantation interval type elbow arthroplasty were performed in 3 cases of severe pain patients which had severe osteoarthritis.A total of 26 patients were installed hinged external fixator after operation for early functional exercise.Results All patients were followed up for an average time of 14 months(from 12 to 18 months).All patients were significantly improved in the range of elbow and pain symptoms.Postoperative joint function improvement:2 patients with severe stiffness improved to moderate stiffness,19 patients with moderate or severe stiffness improved to mild stiffness,and the remaining of 11 cases without stiffness,The improvement rate was 100％.Postoperative pain:6 cases of moderate or severe pain relieved for mild pain,26 patients pain disappeared,the pain relief rate was 100％.Mayo elbow performance score were evaluated before and after surgery.Preoperative score:the results were good in 6 cases,fair in 14 cases and poorin 12 cases;postoperative score:excellent in 20 cases,good in 8 cases and fair in 4 cases,the good rate is 87.5 ％.The difference between preoperation and postoperation was statistically significant (P＜0.05).Conclusion Elbow arthrolysis combined external fixation is beneficial to early functional rehabilitation and restoring the flexion and extension function of stiff elbow,at the same time,the pain caused by stale dislocation or arthritis of elbow can also get good effect.

Ultrasonic debridement combined with continuous skin stretching to repair refractory infective wound: report of 15 cases / 中国感染与化疗杂志

Objective To examine the effect of ultrasonic debridement combined with continuous skin stretching to repair refractory infective wound bed.Methods From January 2016 to July 2016,we treated 15 cases of chronic,refractory infective wound beds using ultrasonic debridement combined with skin stretching technique.Results All the 15 (100％) cases were cured without necrosis of the stretched skin edges.Conclusions Ultrasonic debridement combined with continuous skin stretching is an appropriate technique for repairing the refractory wound bed in the patients who are older,in poor general condition,or poor condition of local skin and soft tissue,or have poor postoperative effect,or surgical contraindication or at higher risk of surgery.

Effect of botulinum toxin A injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy: a prospective study / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the long-term clinical efficacy and adverse effects of botulinum toxin-A (BTX-A) injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.</p><p><b>METHODS</b>Eighty children aged 9-36 months with cerebral palsy and gastrocnemius spasticity were selected and randomly divided into a BTX-A injection group and a conventional treatment group (n=40 each). The children in the BTX-A injection group received injections of BTX-A guided by color Doppler ultrasound and 4 courses of rehabilitation training after injection. Those in the conventional treatment group received 4 courses of the same rehabilitation training alone. Before treatment and at 1, 2, 3, and 6 months after treatment, the modified Tardieu scale (MTS) was applied to assess the degree of gastrocnemius spasticity, the values in the passive state measured by surface electromyography (sEMG) were applied to evaluate muscle tension, and the Gross Motor Function Measure (GMFM) was used to evaluate gross motor function.</p><p><b>RESULTS</b>Compared with the conventional treatment group, the BTX-A injection group had significantly greater reductions in MTS score and the values in the passive state measured by sEMG (P<0.05), as well as significantly greater increases in joint angles R1 and R2 in MTS and gross motor score in GMFM (P<0.05). No serious adverse reactions related to BTX-A injection were found.</p><p><b>CONCLUSIONS</b>BTX-A injection is effective and safe in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.</p>

Minimally invasive and precise treatment of malignant tumor / 中国肿瘤临床

The treatment of malignant tumor is one of the world's worst medical problem and is thus a research hotspot. The occur-rence of tumor development follows the molecule→cell→tissue→organ process. In theory, treatment can be achieved at any stage of tumor-growth by inhibition. Minimally invasive technology for treating tumor embodies the following direction of tumor treat-ment:minimally invasive, precise, and efficient. With endoscopy or imaging as a guide, the purpose of minimally invasive therapy is to have a small wound and to control tumor maximally at the tissue and organ level;thus, this therapy mode is the best and most pre-cise. This kind of technology has a good application prospect, even in the case of distant metastasis, and can be used to relieve the symptoms and improving the quality of survival by treating lesions affecting important organ functions. Minimally invasive therapy is a great challenge following the direction of modern medicine. With the development of medical science and technology, the important role of minimally invasive therapy in future tumor therapy is foreseen.

TACE combined with microwave ablation for the treatment of large-sized hepatic carcinoma:a preliminary study / 实用放射学杂志

Objective To evaluate the efficacy and safety of transcatheter arterial chemoembolization(TACE)combined with per-cutaneous microwave ablation(MWA)in treatment of large-sized hepatic carcinoma.Methods A total of 84 patients with large-sized hepatic carcinoma were randomly and equally divided into the study group(n=42)and control group(n=42).TACE combined with MWA was carried out in the patients of the study group,while only TACE was performed in the patients of the control group.Results The effective rate of the study group and the control group was 71.4% and 42.8% respectively,and the difference between the two groups was statistically significant(P <0.05).In the study group,the survival rates at 6,12,18,24 months after the treatment were 88.1%,73.8%,52.3% and 33.3% respectively,while in the control group the survival rates were 76.2%,57.1%,30.9% and 9.5%respectively.There was no statistically significant differences in the postoperative complications between the two groups.Conclusion TACE combined with MWA appears to be an effective approach for the treatment of large-sized hepatic carcinoma.The effect of combined therapy is obviously superior to the only TACE.

Antidiarrheal properties of different extracts of Chinese herbal medicine formula Bao-Xie-Ning / 中西医结合学报

<p><b>OBJECTIVE</b>Bao-Xie-Ning (BXN), a traditional Chinese herbal medicine (CHM) formula composed of Fructus Evodiae, Flos Caryophylli and Cortex Cinnamomi, and used for the treatment of infant diarrheal illness, was subject to systematic assessment for its putative multiple pharmacodynamic effects and pharmacological antidiarrheal mechanisms.</p><p><b>METHODS</b>High-performance liquid chromatography-diode array detector-electrospray ionization-mass spectrometric/mass spectrometry was developed and validated for identification and quantification of the main constituents in different extracts of BXN. Male Kunming mice weighing 20 to 25 g were used for detecting the antidiarrheal activity of the extracts. Ethanolic extract (EE), volatile oil extract (VOE), and aqueous extract (AE) of BXN were respectively subjected to pharmacodynamic and pharmacological comparison in assessing antidiarrheal effects with senna-induced diarrhea, castor oil-induced diarrhea, acetic acid-induced writhing assay, and isolated duodenum test.</p><p><b>RESULTS</b>The highest yields of three detected components of BXN, rutaecarpine, eugenol and cinnamaldehyde were observed in EE. EE showed the most remarkable antidiarrheal activity in dose-dependent and time-dependent manners in both senna- and castor oil-induced diarrhea models, and presented dose-dependent analgesic activity in acetic acid-induced algesthesia model. In addition, EE extract of BXN also exhibited strong antimobility action on the intestine and strongest depression on spontaneous contraction of isolated duodenum.</p><p><b>CONCLUSION</b>Ethanol extraction is an efficient method to extract the active constituents of BXN. BXN extract demonstrated multiple pharmacological activities affecting the main mechanisms of diarrhea, which validated BXN's usage in the comprehensive clinical treatment of diarrhea.</p>

A family with autosomal dominant Emery-Dreifuss muscular dystrophy and literature review / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics,muscle pathological features and pathogenic gene mutation of a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).Methods Clinical data of the proband and her family members,a Chinese family of AD-EDMD,were collected.Skeletal muscle specimens were collected from the proband for pathological analysis.Genomic DNA from the proband and her parents was extracted using standard procedures from the peripheral blood leukocytes.PCR and DNA direct sequencing were employed to analyze all of the 12 exons of the LMNA gene to determine the gene mutation,and the case was summarized along with related literature review.Results The proband,female,4 years and 5 months old now,presented with muscle weakness during her early childhood,the proximally was more prominent,mild pectus excavatum.Her CK level was elevated,her electromyogram showed myogenic injuries,the muscle biopsy showed myopathy changes.Her father had the same symptom,with disease progressed,showed elbow contractures in early stage,stiff neck,tight achilles tendon,slowly progressive muscle weakness of the limbs,sinus bradycardia.A heterozygous missense mutation c.1580G ＞ C (p.Arg527Pro) was identified in exon 9 of the LMNA gene in the proband and her father,but not in her mother.This heterozygous missense mutation had been reported as a pathogenic gene mutation.Conclusions The patient who has elbow contractures in early stage,limited neck flexion,spine stiffness,muscle weakness with the proximal upper limbs and distal lower limbs,and arrhythmia,should have an analysis of the LMNA gene.It's important for the early diagnosis of EDMD,assessment of the prognosis,timely and effectively monitoring the changes of arrhythmia,then taking interventions to improve the quality of life and prolong life.So genetic analysis is most reliable method to diagnose EDMD.

Phenotype/genotype analysis of 4 cases of LMNA related congenital muscular dystrophy with inflammatory changes / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics,muscle pathological features and pathogenic gene mutation in 4 cases with LMNA-related congenital muscular dystrophy (L-CMD).Methods Clinical data of the probands and the parents were collected.Skeletal muscle specimens were biopsied from the probands for pathological analysis.Genomic DNA and RNA were extracted from peripheral blood leukocytes,and PCR,reverse transcription(RT)-PCR and DNA direct sequencing were employed to analyze the LMNA gene to determine the gene mutation and confirm the pathogenicity.Results Four patients had symptoms from fetal period to several months after birth.They presented with motor retardation,muscle weakness with prominent the proximal upper limbs,distal lower limbs and neck extensor,hypotonia,contractures,with mild to moderate elevation of CK level.The muscle biopsies showed muscular dystrophic and with inflammatory changes,and the abnormal nuclear morphology was observed with transmission electron microscopy.Genetic analysis of them detected 4 dominant de novo mutations.Three of them had unreported pathogenic mutations.The same sites of the LMNA gene were wild type in their parents.Conclusions Four cases of L-CMD are genetically identified.Genetic counseling of the family can be possible.The patients should be considered LMNA gene mutation of they present themselves with muscle weakness with the proximal upper limbs,distal lower limbs and neck extensor,hypotonia,contractures,mild to moderate elevation of CK level,and if the biopsies show muscular dystrophic changes but also with inflammatory changes should be considered LMNA gene mutation.Genetic analysis is the most reliable method for diagnosing L-CMD.

Studies on anticoagulant constituents in dried Whitmania pigra / 中国中药杂志

<p><b>OBJECTIVE</b>To study the anticoagulant constituents in dried leech (Whitmania pigra Whitman).</p><p><b>METHOD</b>The plasma recalcification time (PRT) as index, the constituents with anticoagulant activity were isolated and purified by anion-exchange chromatography on Sephadex DEAE A-50, gel permeation chromatography on Sephadex G-25 and Sephadex LH-20 columns, and then reversed phase high-performance liquid chromatography successively.</p><p><b>RESULT</b>Three anticoagulant polypeptides were isolated and purified. Compounds 1 and 2 can be translated each other in natural conditions, and their molecular weights are 7100 and 5531, respectively. Compound 3 was identified as a pure polypeptide by HPLC and SDS-PAGE, and its molecular weight was determined as 8 608 by MALDI-TOF-MS. The amino acid composition of compound 3 was also determined.</p><p><b>CONCLUSION</b>Compound 3 was inferred to be a novel anticoagulant, and named whitmanin.</p>

Progress on ADAM9 in tumors / 国际外科学杂志

ADAM9, a member of ADAM family, plays an important role in development of many human diseases especially neoplasms as its metaUoproteinases activity and the ability of combining with integrins. This might help us find new therapeutic targetpoints and therefore offer new therapeutic approaches.