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Objective:To analyze the clinical manifestations, gene mutation characteristics and treatment effects of patients with GATOR1 complex-related epilepsy, and to explore the diagnosis and treatment of this disease.Methods:The medical history, electroencephalogram, brain imaging, genetic test results, treatment and follow-up data of patients with GATOR1 complex-related epilepsy who attended the Children′s Hospital Affiliated to Capital Institute of Pediatrics, Beijing Tsinghua Changgung Hospital, and Shanghai Deji Hospital from May 2017 to July 2022 were retrospectively analyzed.Results:A total of 16 patients with GATOR1 complex-related epilepsy were collected, including 7 males and 9 females. The age of onset of epilepsy was from 2 months to 14 years. Ten cases had focal seizures only, 2 cases had generalized seizures only, and 4 cases had coexistence of focal seizures and generalized seizures, of which generalized seizures included generalized tonic-clonic seizure, spastic seizure, and myoclonic seizure. Among the 16 patients, 2 had infantile spasms, 3 had familial focal epilepsy with variable focus, and 1 had sleep related hyperkinetic epilepsy. Electroencephalogram intervals suggested multiple brain areas discharge or diffuse discharge. A total of 13 DEPDC5 gene mutation sites, 1 NPRL2 gene mutation site, and 2 NPRL3 gene mutation sites were found; 4 sites of DEPDC5 gene were reported sites, the rest were unreported; all mutations had pathogenic significance; 8 cases had nonsense mutation, 1 case had large fragment deletion, 4 cases had frameshift mutation, 1 case had integer mutation, 2 cases had splicing mutation; 13 cases′ mutation was inherited from parents, 2 cases had new mutation, and 1 case had unverified mutation. Magnetic resonance imaging (MRI) showed 5 of the 16 patients were normal, and 11 had abnormal cerebral cortex structure, manifested as bottom-of-sulcus focal cortical dysplasia (FCD), abnormal formation of sulci and (or) gyri with or without ill-defined gray-white matter and malformation of cortical dysplasia of the bilateral brain. Seven patients underwent stereotactic electroencephalogram (SEEG) monitoring, and the SEEG showed low-amplitude fast rhythm at the beginning in 6 patients, of whom 5 cases started from the frontal lobe, and 1 case started from the parietal lobe. Eight patients were only treated with drugs, 1 with single-drug therapy and the rest with multi-drug combination therapy. Eight patients underwent surgery. Among them, 5 patients with DEPDC5 gene mutation underwent epileptogenic cortex excising after SEEG monitoring, and postoperative pathological examinations showed FCDⅡ, FCDⅢ or non-specific changes; 1 patient was waiting for surgery. One patient with NPRL3 gene mutation underwent epileptogenic foci resection and postoperative pathological examinations showed FCDⅡa; the other patient with NPRL3 gene mutation underwent radiofrequency thermocoagulation after SEEG monitoring. Follow-up showed that 3 patients were seizure-free with drug treatment, and 4 patients had fewer seizures after drug treatment. Six cases underwent epileptic foci resection. Five of them were assisted by SEEG to locate the epileptic foci before surgery and were seizure-free after the operation, but the range of surgical resection was wider than the abnormal range shown by MRI; whereas 1 case who was not assisted by SEEG showed no improvement. There was still 1 case who underwent SEEG-guided radiofrequency thermocoagulation and had no improvement after operation. Conclusions:GATOR1 complex-related epilepsy mostly manifests as focal seizures. SEEG shows that seizures originate from the frontal lobe more often, and cortical developmental abnormalities are often found. DEPDC5 gene mutations are the most common ones, mostly inherited from parents, with high incomplete penetrance rate. Therefore, genetic testing is recommended for non-acquired brain structural abnormalities. For those who are refractory to drugs, a radical cure can be obtained by resection of the epileptogenic foci after preoperative evaluation.
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OBJECTIVE:To investigate clinical efficacy and safety of vitamin D combined with azithromycin in the treatment of pneumonia in patients with type 2 diabetes and its effects on serum inflammation indexes.METHODS:A total of 68 patients with type 2 diabetes complicated with pneumonia selected from our hospital during May 2014-Sept.2015 were divided into control group and trial group according to random number table,with 34 cases in each group.Both groups received insulin intensive hypoglycemic therapy.Control group was given Azithromycin for injection 10 mg/kg+0.9％ Sodium chloride injection 100 mL,ivgtt,qd,for consecutive 5 d,and then used Azithromycin dry suspension instead 10 mg/kg,po,qd,consecutive 3 d treatment and 4 d interval as a treatment course,for 2 cycles.Trial group was additionally given Vitamin D drops 800 U,po,qd,for consecutive 4 weeks,on the basis of control group.The clinical efficacies of 2 groups were observed,and serum inflammation indexes [interleukin-6 (IL-6),C-reactive protein (CRP),immunoglobulin G protein (IgG)] levels were also observed before and after treatment.The occurrence of ADR was recorded.RESULTS:Total response rate of trial group (91.18％) was significantly higher than that of control group (70.59％),with statistical significance (P＜0.05).Before treatment,there was no statistical significance in serum inflammation indexes as IL-6,CRP,IgG between 2 group (P＞0.05).After treatment,IL-6 and CRP of 2 groups were decreased significantly,and the trial group was significantly lower than the control group;IgG of 2 groups were increased significantly,and the trial group was significantly higher than the control group,with statistical significance (P＜0.05).There was no statistical significance in the incidence of ADR between 2 groups (P＞0.05).CONCLUSIONS:Vitamin D combine with azithromycin in the treatment of pneumonia in patients with type 2 diabetes has a good clinical curative effect,helps to improve the levels of IL-6,CRP and IgG with good safety.
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Objective To explore the effect of lactoferrin fortified formula milk on growth and blood erythrocyte indices among infants.Methods In this prospective multi -center controlled intervention study,a total of 260 infants were selected from six maternal and children's health care hospitals in the area.All subjects were divided into two groups with the sequence of outpatient:lactoferrin fortified formula milk group (fortified group,FG,containing lactoferrin 38 mg/100 g milk and iron element 4mg/100 g milk)and no lactoferrin fortified milk (control group,CG,containing lactoferrin 0 mg/100 g milk and iron element 4.2 mg/100 g milk)for 3 months.The levels of weight,height and head circumference and the concentration of hemoglobin (Hb),serum ferritin (SF),red blood cell count (RBC),hematocrit(Hct),mean corpuscular volume (MCV ), mean corpuscular hemoglobin (MCH ), mean corpuscular hemoglobin concentration (MCHC),red blood cells volume distribution width (RDW)and HAZ,WAZ and WHZ were recorded before and after intervention,respectively.Results A total of 213 (including 115 in FG,and 98 in CG)infants were included in the intervention trial and all measurement of biochemical indicators were detected.There were no significant difference in the average amount of daily intake of formula milk (94.3 ±9.8 g vs.88.2 ±8.7 g for FG and CG,P >0.05)and iron element (3.8 ±0.4 mg vs.3.7 ±0.6 mg for FG and CG,P >0.05).The average amount of daily intake of lactoferrin for infants in FG group was 35.8 ±3.7 mg.The levels of weight,WAZ,WHZ,Hb,SF,MCV and MCHC of infants in FG after intervention were all significantly higher than those of infants in CG [weight,(8723 ±245)g vs.(8558 ±214)g;WAZ,(1.02 ±0.31)vs.(0.44 ±0.18);WHZ,(0.98 ±0.31)vs.(0.41 ±0.12);Hb,(125.5 ±15.4)g/L vs. (116.9 ±13.1)g/L;SF,(44.7 ±17.2)μg/L vs.(31.6 ±18.4)μg/L,but significantly lower for the prevalence of anemia (4.35% vs.7.14%)and iron deficiency (13.91% vs.24.49%)(P <0.05).Conclusion The intervention of lactoferrin fortified formula milk presented significant effects on iron metabolic homeostasis and erythrocyte indices of infant with breastfeeding.
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Micro-invasive thoracic surgery has become new trends of thoracic surgery,and video-assisted thoracic surgery (VATS),which has the advantage of less trauma,rapid recovery and fewer postoperative complications,has become the mainstream of lung cancer resection.With the development of technology and surgical instruments,VATS has taken the place of open procedure,and the postoperatively follow-up also showed that both the two procedures have similar results in long-term survival rate and so on.With years of rapid develop,now the traditional VATS has nearly been perfect,the thoracic doctors eagerly try to find a new kind of micro-invasive surgery.It is in this background that Uniportal video-assisted thoracic surgery is born and it has been received by more and more operators.Uniportal VATS is not only inferior than multiportal VATS in Postoperative survival,but also has the advantage in reliving post thoracotomy chest pain as it only has one incision.In this paper,the author would like to summarize up the newest development of uniportal VATS in recently years.
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Objective To explore the feasibility and short-term efficacy of laparoscopic and thoracoscopic Ivor Lewis esophagectomy using a circular-stapled anastomosis with trans-oral anvil in treating esophageal carcinoma.Methods 30 consecutive patients with esophageal cancer received minimally invasive Ivor Lewis esophagectomy from January 2011 to December 2011.Operations of all the cases comprised of both abdominal and thoracic procedures which were performed with Iaparoscopic and thoracoscopic techniques respectively.The intrathoracic esophago-gastric anastomosis was created using a circular-stapled anastomosis with trans-oral anvil technique.Results There were 24 males and 6 female with median age of 62.5-year-old (from 47 to 82).The lesions located in middle and/or lower portion of the esophagus.25 patients with esophageal squamous cell cancer (n =25) and 5 patients with adenocarcinoma (n =5) underwent an Ivor Lewis esophagectomy.All the operations were successfully performed without intra-operative technical failures of the anastomosis or deaths.The mean operation time was 95 minutes in abdomen and 177 minutes in thorax.The mean blood loss was 310 ml.The mean number of harvested lymph nodes was 10.6 from thorax and 4.9 from abdomen.Postoperalively,there were thoracic wound infections in 4 patients.One patient had a left diaphragmatic hernia and was successfully treated by re-operation 6 days after first operation.One patient had chylothorax and recovered without surgery.There was no anastomotic leak and the patients were able to have spoon meat at 5.6 postoperative days.Conclusion Laparoscopic and thoracoscopic Ivor Lewis esophagectomy can be accomplished smoothly with acceptable occurrence of complications.The circular-stapled anastomosis with the trans-oral anvil is an efficient,safe and reproducible technique for intrathoracic esophago-gastric anastomosis.
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Bronchioloalveolar carcinoma is a subtype of the lung adenocarcinoma. Early stage bronchioloalveolar carcinoma is usually asymptomatic, especially in the peripheral lung. Rarely, urticaria has been described occurring with lung cancer, usually small-cell lung cancer, but no case has been reported of the bronchioloalveolar carcinoma yet. We report here a unique and initial urticaria on a patient, lasting for 6 months, who finally was diagnosed as early stage bronchioloalveolar carcinoma (T1aN0M0). After treatment of surgery, the symptom of urticaria disappeared and did not recur. Therefore, we consider that utricaria is a possibly clinical manifestation in early stage bronchioloalveolar carcinoma.
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Female , Humans , Middle Aged , Adenocarcinoma, Bronchiolo-Alveolar , Diagnosis , Pathology , Urticaria , Diagnosis , PathologyABSTRACT
Objective To explore the effect of using pedicle skin flaps for treatment of skin and soft tissue defects.Methods From January 2004 to September 2010,87 patients with skin and soft tissue injury which had been treated by using pedicle skin flaps without vessel anastomosis were retrospectively analyzed,including 61 males and 26 females with an average age of 40 years (range,14-61).The pedicle skin flaps selected were known vessel skin flaps or unknown vessel random skin flaps.The reconstruction treatment increased multiple selections of skin flaps for patients.Skin and soft tissue defects were located at the hand in 21 cases,at the lower extremities in 66.The kinds of skin flaps included adjacent transposition flaps in 50 cases,distal skin flaps in 37.The areas of the skin flaps were 2.0 cm×1.5 cm-18 cm×12 cm.Donor sites were as follows:lower leg in 61 cases,abdomen in 18,and hand in 8.Results Three patients appeared skin flaps hematoma after operation,which were removed immediately with no effect on flaps survival.Pedicle skin flap was compressed due to unstable fixation in 1 case,which made distal flap tissue necrosis approximately 2 cm in width.After dressing change for 6 weeks,the flaps got survival.Thirty seven patients underwent the second stage operation for breaking the perdicle 3 weeks after the first operation.All 87 patients were obtained follow-up for an average of 13 months (range,3-60).The total of 90.80％ patients treated with pedicle skin flaps were satisfied with the results.Conclusion Pedicle skin flap surgery can be performed more easily with less limitations of surgical designs.The survival rate of the flap is high,and the treatment of pedicle skin flaps could be well applied for soft tissue defects.
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Ligusticum Chuanxiong,a traditional Chinese medicine,has the functions of promoting Qi flow and blood,dispelling pathogenic wind and relieving pain.One of effective constituents extracting from Chuanxiong is tetramethylpyrazine,which has several pharmacological activities and anti-tumor function through inhibiting expression of vascular endothelial growth factor(VEGF).Recent relative studies provided scientific basis for a better application oftetramethylpyrazine clinically.
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BACKGROUND: Whole blood viscosity is the keystone in hemorheological research, which has important significance in the exposure of the generation of ischemic diseases including myocardial infarction (MI) and cerebral infarction(CI) due to hemorheological changes.OBJECTIVE: To investigate the characters of macroscopical and microscopical hemorheology to explore the standardization of hemorheological measuring method.DESIGN: An observatory comparative study based on the venous blood of healthy individual.SETTING: Department of physics in a medical college.MATERIALS: Venous bloods of 86 healthy individuals were randomly selected for the study, which was conducted in the Laboratory of Hemorheology of Guilin Medical College.METHODS: Totally 86 whole blood samples were tested under 7 shear rates (0.6 s-1,2 s-1,5 s-1, 10 s-1, 20 s-1, 40 s-1, 100 s-1) from low shear rate to high shear rate, and then from high shear rate to low shear rate. The measuring value of the two processes was compared.Casson viscosity and yield stress in two measuring process.RESULTS: There was no significant difference of apparent viscosity( P＞ 0.05 ) except the 0.6 s- 1 -corresponding apparent viscosity ( P ＜ 0.05 )at some shear rate in two measuring process. There was no significant difference in Casson viscosity and yield stress( P ＞ 0.5, P ＞ 0. 3).CONCLUSION: The measurement of Casson viscosity and yield stress is good for the optimization of the standardization of hemorheological indicators and measuring method; and it is feasible to test apparent viscosity, Casson viscosity and yield stress repeatedly in same blood sample, which has important significance in the exposure of the hemorheological changes and the generation and development mechanism of ischemic diseases including MI,CI, hypertension, and coronary heart disease(CHD).
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<p><b>OBJECTIVE</b>To investigate the vasodilating effects of pethidine, particularly in association with intracellular calcium.</p><p><b>METHODS</b>Aorta rings of Sprague-Dawley rats, with or without endothelium, were prepared in organ bath to measure the vascular tone. Pre-contractions by KCl (80 mmol/L) and phenylephrine (PhE) (10(-6)mol/L) were induced.</p><p><b>RESULTS</b>Pethidine did not alter the resting tension of aorta rings, but produced dose-dependent relaxation in KCl and PhE pre-treated aorta rings with or without endothelium. Pethidine did not change the caffeine-stimulated contraction, and still had similar inhibition in KCl pre-contracted aorta rings after pretreatment with ruthenium red. Pethidine decreased the contractile responses induced by PhE in Ca(2+)-free solution or by adding calcium into Ca(2+)-free solution.</p><p><b>CONCLUSION</b>Pethidine could produce an endothelium-independent vasodilatation in KCl and PhE pre-contracted aorta rings, which is related to inhibition of Ca(2+)entry and IP3-sensitive Ca(2+) release in vascular smooth muscle.</p>
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Animals , Male , Rats , Caffeine , Pharmacology , Calcium , Metabolism , Meperidine , Pharmacology , Potassium Chloride , Pharmacology , Rats, Sprague-Dawley , Vasodilator Agents , PharmacologyABSTRACT
<p><b>OBJECTIVE</b>To investigate the dynamics of plasma cAMP/cGMP in patients during cardiac surgery, and its relationship to traumatic stress.</p><p><b>METHODS</b>Sixteen patients, aged 19.31 years+/-10.4 years, who underwent an open heart operation with cardiopulmonary bypass (CPB) and hypothermia were served as subjects. The arterial plasma concentrations of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) were measured by radioimmunoassay 2 hours before operation, after heparinization, 20 minutes following CPB, at the end of the operation, and 24 and 72 hours postoperatively, respectively. The patients' preoperative blood samples were heparinized and the venous blood samples of 30 healthy blood donors were taken to measure the levels of cAMP and cGMP as heparin and normal controls separately.</p><p><b>RESULTS</b>There were no statistical difference among the heparin control, preoperative level and normal control. The peak values of cAMP and cGMP occurred during CPB and plasma cAMP levels changed synchronously with intensities of operative stimulus to human body. However cGMP level was mainly related to the operative stimulus to the heart and CPB. The cAMP value was positively correlated with the cGMP value (r=0.6313, P<0.001).</p><p><b>CONCLUSIONS</b>Dynamic variation of plasma cyclic ribonucleotide can be considered as a reference parameter for intensity of traumatic stress.</p>
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Adolescent , Adult , Female , Humans , Male , Middle Aged , Biomarkers , Cardiopulmonary Bypass , Coronary Disease , Blood , General Surgery , Cyclic AMP , Blood , Cyclic GMP , Blood , Linear Models , Multivariate Analysis , Postoperative Period , Preoperative Care , Radioimmunoassay , Reference Values , Sensitivity and Specificity , Stress, Psychological , BloodABSTRACT
Objective To investigate cerebral MRI characteristics of patients with eclampsia. Methods A retrospective study was conducted on 15 cases of eclampsia and items reviewed cover all data concerning clinical features,cerebral MRI findings and results of follow-up survey.Results All of these patients had clinical symptoms of.blurred vision,headache,seizure,hypertension,proteinuria and edema of lower extremity.As for the characteristics of imaging,13 cases had only abnormal symmetric signals in parieto-occipital lobes,frontal lobe and basal ganglia were involved in 2 cases,and temporal lobe was involved in 1 case.The signals of lesions in DWI were isointense or hypointense,however they were hyperintense in ADC map.Two cases had hyperintense signals in DWI.All the patients recovered well,and all brain lesions disappeared during follow up.Conclusion The most important imaging of eclampsia is vasogenic edema with a good prognosis.
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Objective To observe the protection of Caspase inhibitor(zVAD-fmk,benzyloxycarbonyl-Val-Ala-Asp-fluoromethyl ketone) on neonatal rat with hypoxic-ischemic brain damage(HIBD).Methods Thirty-six neonatal rats,7 days old,were randomly divided into hypoxic-ischemic(HI) control group(A),zVAD-fmk treated group(B) and sham group(C).Before HI insult,a pan-Caspase inhibitor,zVAD-fmk or normal buffer solution was injected into the cerebral ventricle.The water content of cerebral hemisphere was measured and the percentage of apoptofic cells in hippocampal neurons was measured by Flow cytometer(Annexin V/PI) at 24 hours after HI insult.The effect on body weights(percentage of increased weight,WIP) and macroscopical changes(percentage of cortox and hippocampal dead neurons) were assessed at 14 days.Results Compared with group A,the water content of ischemic hemisphere and apoptosis percentage of hippocampal neurons in group B reduced significantly.The difference of percentage of increased weight at 14 days in group B was not significantly.Microscopic examination showed that cortox and hippocampus neural death rate in group B was proved significantly reduced compared with that in group A.Conclusion Intracerebral administration of zVAD-fmk has protective effects on hypoxic-ischemic brain damage in neonatal rat.