Clinical features and follow-up of paroxysmal kinesigenic dyskinesia in children / 中国小儿急救医学

Objective:To investigate the clinical features, gene mutation and follow-up outcome of children with paroxysmal kinesigenic dyskinesia(PKD).Methods:Clinical data was collected at Beijing Tiantan Hospital Affiliated to Capital Medical University from November 2018 to November 2019.In total, seven children with PKD were recruited, and peripheral blood samples for gene study were collected from six patients and their parents.Mutation analysis of PRRT2 gene was performed by PCR sequencing in children and by Sanger sequencing in patients.Results:Of the seven patients, four were male and three were female, and the median age of onset was 11 years and 6 months, ranging from 5 to 14 years.Among them, two patients were family cases and the other five patients were sporadic cases.The presentation were abnormal involuntary movements provoked by sudden movements, without loss of consciousness.Five patients exhibited dystonia and two patients had dystonia and choreoathetosis.The duration of the attacks lasted for a few seconds to 40 seconds.The frequency ranged from 5 to 15 times per day.PRRT2 mutations, c.649_650insC(P.R217PfsX8), were found in two patients with PKD families and three sporadic PKD cases.Conclusion:The onset age of PKD is pre-school or school age.The attacks manifest as dystonia or mixed with dystonia and choreoathetosis.PRRT2 is the main pathogenic gene of PKD and mutation c. 649_650insC is the hotspot mutation.Low-dose Carbamazepine has good effects.

Comparative analysis of postoperative adjuvant radio-chemotherapy and simple chemotherapy in the treatment of advanced gastric cancer / 重庆医学

Objective To analyze and compare the short-term efficacy and daverse reaction of postoperative adjuvant radio -chemotherapy versus simple chemotherapy in advanced gastric cancer .Methods A total of 64 patients with locally advanced gastric cancer were randomly but equally divided into 2 groups ,experimental group and control group .The experimental group patients ini-tially receive 4-cycles chemotherapy with Capecitabine Tablets 1 000 mg /m2 ,bid ,d1 - 14 plus Oxaliplatin 130 mg/m2 ,d1 ,and then receive Capecitabine Tablets 825 mg /m2 ,bid ,d1 - 35 plus 3DCRT 45 Gy/25 Fx /5 w concurrent radio-chemotherapy .Control group patients receive 6-cycles Capecitabine plus oxaliplatin combined chemotherapy .Then we observed the disease progression time ,toxic reaction ,1 year survival rate and 2 year survival rate simultaneously in two groups .Results The follow-up rate were 100% .The comparative results are listed as follows (experimental group and control group) :the rates of Ⅰ /Ⅱ grades of nausea and vomiting were 87 .50% and 62 .50% respectively (P 0 .05) and 84 .38% ,62 .50% respectively (P <0 .05) ;2-year overall survival rate and recurrence-free survival rate were respectively 84 .38% ,59 .38% (P< 0 .05) and 75 .00% , 50 .00% respectively (P< 0 .05) .Conclusion The advantages of 3DCRT combined with Capecitabine Tablets chemoradiotherapy can raise the successful rate of local control in patients with advanced gastric cancer after operation and 4 cycles chemotherapy .The toxic reactions are tolerable for patients .

Early identification and intervention of cerebral palsy / 中华实用儿科临床杂志

Cerebral palsy (CP) describes a group of disorders of the development of movement and posture,causing activity limitation attributed to disturbances,which occurred in the fetal or infant brain.Early identification and intervention of CP has always been a difficult topic in the research of neuroscience.The intervention should be focused on infants showing early signs of CP.Such signs may be efficiently detected by a combination of neuroimaging and the General Movements Assessment.Besides movements,enriched environments,active participation,parental coaching have benefits to early intervention.In this investigation,the early identification and intervention in cerebral palsy were focused.

Clinical analysis of 2 cases with chylothorax due to primary lymphatic dysplasia and review of literature / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics and diagnosis of 2 cases with chylothorax due to primary lymphatic dysplasia and to elevate pediatrician's recognition level for this disease.</p><p><b>METHOD</b>Clinical manifestations of the children were retrospectively analyzed. Primary lymphatic dysplasia was diagnosed by lymphoscintigraphy.</p><p><b>RESULT</b>The first patient was a male aged 2-year-7-month who presented with a history of tachypnea for 43 days, fever and sore throat for 5 days at the early stage of the illness. He had a history of external injury before his illness. Physical examination showed his left chest bulging and left side diminished breath sound. His pleural effusion showed dark red (It was divided into two layers after standing, the upper layer turned into milky white, and the lower turned into hemorrhagic liquid) . White blood cell (WBC) count was 9 000×10(6)/L, mononuclear cell was 0.9, polykaryocytes was 0.1, triglyceride was 12.37 mmol/L in the pleural effusion. Contrast-enhanced lung CT (revascularization) showed pericardial effusion and a massive left sided pleural effusion. The second patient was a male aged 9 years and 6 months, who presented with a history of cough for 24 days, intermittent fever, vomiting, abdominal pain for 19 days, and edema of lower limbs for 4 days. Physical examination showed edema in both eyelids, lower extremities and scrotum. The level of albumin was 14 g/L and the titer of Mycoplasma pneumoniae IgM was 1: 320 in the serum. His hydrothorax pleural effusion showed milk white. White blood cell (WBC) count was 74×10(6)/L, mononuclear cell was 0.78, polykaryocytes was 0.22, triglyceride was 1.01 mmol/L in the pleural effusion. Chyle test showed positive in his pleural effusion and seroperitoneum. High-resolution CT of the lung revealed bilateral interstitial and parenchymal infiltration and both sided pleural effusion. Abdominal ultrasound showed giant hypertrophy of the gastric mucosa and massive ascites. Gastroscopy showed giant hypertrophy of the gastric mucosa. Lymphoscintigraphy revealed primary lymphatic dysplasia in both children.</p><p><b>CONCLUSION</b>Primary lymphatic dysplasia might occur in children and result in dropsy of serous cavity (chylothorax, chylopericardium, chylous ascites). Dropsy of serous cavity showed bloody or milk white. WBC count might elevate with lymphocyte increasing mostly, triglyceride was often higher than 1.0 mmol/L in dropsy of serous cavity. Primary lymphatic dysplasia can be diagnosed by lymphoscintigraphy.</p>

Preparation of V(E) acetate-loaded amphiphilic block copolymer nano-dispersions / 生物医学工程学杂志

V(E) acetate-loaded methoxy poly(ethylene glycol)-b-poly(lactic acid) amphiphilic diblock copolymer nano-dispersion (PMV) was prepared by self-emulsification/solvent evaporation method. The drug-loaded amount, size distribution of PMV nanoparticles, and entrapment efficiency of V(E) acetate (V(E)A) were determined by UV and laser particle analyzer. Drug release in vitro was primarily investigated by UV. The results indicate that the size of PMV nanoparticles is less than 300 nm and PMV is largely influenced by preparation methods, property of solvents, V(E)A-fed amount, and the concentration of dispersion. The initial burst release is not observed and the accumulated release is more than 79% after 14 h. This study develops a new formulation for V(E)A and provides an experimental basis for the novel drug delivery systems of V(E)A.

Clinical study of 99Tc-MDP in the treatment of multiple bone metastases cancer / 中国基层医药

Objective To observe the effect of 99Tc-MDP in the treatment of metastasis bone disease pain with malignancies,and the influence of 99Tc-MDP to human body's Hb,WBC,PLT,serum calcium,and PS grade.Methods 99Tc-MDP was used for the treatment of bone metastases in 78 cases with malignancies:established the intravenous access,mairdined with the 99Tc-MDP,200mg,the diluted physiological brine,and in tWO hours,once a day for five days.After the rest of twenty one to twenty-eight days,the second cycle Was repeated,and each patient at least three cycles.Results 99Tc-MDP had no influence to the Hb,WBC and PLT in pre-treatment and post-treatment,but had obvious effeet on the serum calcium,the hypocalcaemia reduced obviously(P＜0.01).There was significant difference in ameliorating ache during the periods of pretreatment and post-treatment(P＜0.05).However,there was no marked improvement in PS,and no statistic difference(P＞0.05).Conclusion 99Tc-MDP has deftnite curative effect in the treatment of metastasis bone cancer,can ameliorate the ache induced by it,and can reduce the hypoealcaemia.There is no marrow inhibition and enteron reaction in the application.