Objective To explore the clinical value of pleura biopsy and partial pleura cryobiopsy via electronic bronchoscope in diagnosis of unknown exudative pleural effusion. Methods Diagnostic results of 563 patients with unknown exudative pleural effusion were analyzed retrospectively. Bronchoscope and routine pleura biopsy were performed in 187 patients. Bronchoscope and routine pleura biopsy plus partial pleura cryobiopsy were performed in 376 patients. Pathological positive rates of the two groups were compared. Results In the 187 patients examined by bronchoscope and routine pleura biopsy from 2006 to 2008, 161 patients obtained pathological positive results ( 86.1% ) . In the 376 patients examined by bronchoscope and routine pleura biopsy plus partial pleura cryobiopsy from 2009 to 2012, 354 patients acquired pathological diagnosis ( 94.1% ) . There was significant difference between the two groups ( P lt; 0.05) . The main complications were bleeding and local chest pain, and they can be controlled easily. Conclusions Electronic bronchoscope and pleura biopsy can obtain high detection rate of nearly 90% in diagnosis of unknown exudative pleural effusion especially when combined with cryobiopsy of partial pleura. Electronic bronchoscope combined with pleura biopsy or cryobiopsy is an alternative in clinical settings when thoracoscope is unavailable.
Objective To assess the effectiveness and safety of autologous stem cell transplantation after high-dose chemotherapy in first-line treatment of follicular lymphoma. Method Randomized controlled trials (RCTs) of autologous stem cell transplantation after high-dose chemotherapy in first-line treatment of follicular lymphoma were collected from MEDLINE (1990-2009), EMBASE (1990-2009), OVID (1990-2009), and the Cochrane Library (Issue 2, 2009), and the proceedings of ASH were searched manually. The methodological quality of included studies was evaluated, and data analysis was performed with software STATA 10.0 and RevMan 4.3. Result A total of 4 RCTs involving 941 patients were included. The results of meta-analysis showed that overall survival rate (HR=0.82, 95%CI 0.49 to 1.15), event-free survival rate (HR=0.35, 95%CI 0.24 to 0.47), total remission rate (RR=0.35, 95%CI 0.96 to 1.30), and secondary malignant tumor incidence rate (RR=1.68, 95%CI 0.47 to 6.07). Conclusion According to the present evidences, autologous stem cell transplantation after high-dose chemotherapy can not improve overall survival rate and total remission rate, but can improve event-free survival rate, and do not increase secondary malignant tumor incidence rate. However, more high-quality, multiple-center, large-sample randomized controlled trials are required.
ObjectiveTo study the phenotype of children with KCNQ2 gene related epilepsy.MethodsForty epilepsy children who were detected with KCNQ2 gene variants were enrolled. Their genotype and phenotype were analyzed.ResultsThirty-six KCNQ2 variants were identified. Twenty variants were novel. Twelve patients had inherited variants, and 28 patients had de novo variants. The age of seizure onset was from one day to 9 months. 80.0% patients had their seizure onset in neonates (32/40). Multiple seizure types were observed. Focal seizure was observed in 38 patients (95.0%). Epileptic spasm was observed in 10 patients (25.0%). Myoclonic seizure was observed in 4 patients. Tonic spasm seizure was observed in 3 patients. In all patients, seizures manifested in clusters. In 28 patients with de novo KCNQ2 variants, 24 had development delay (85.7%), the other 4 patients had normal development. In 12 patients with inherited KCNQ2 variants, one had development delay, the other 11 patients had normal development (91.7%). The most common interictal EEG changes were local epilepsy discharges (31/40). The MRI of brain was abnormal in 14 patients with de novo KCNQ2 variants and developmental delay. The agenesis of corpus callosum was identified in 10 patient (25.0%). Enlargement of subarachnoid spaces in the frontal and temporal region was identified in 11 patients (27.5%). Cortial dysplasia in the bilateral frontal and temporal region was identified in 2 patients. Sulus deepening was identified in 4 patients. Enlargement of bilateral lateral ventricle was identified in 3 patients. In 40 patients with KCNQ2 variants, 3 were diagnosed as benign familial neonatal epilepsy (BFNE), 2 were diagnosed as benign familial neonatal-infantile epilepsy (BFNIE), 3 were benign familial infantile epilepsy (BFIE), 3 were benign infantile epilepsy (BIE), 5 were benign neonatal epilepsy (BNE), 3 wer Ohtahara syndrome (OS), 9 were West syndrome (WS), 12 were unclassified early infantile epileptic encephalopathy (EIEE), one was epilepsy with autism. Sodium channel blockers oxcarbazepine was the most effective among antiepileptic drugs, with a effective rate of 90.9%.ConclusionsMost KCNQ2 variants are missense variants. De novo variants are more common in patients with KCNQ2 variants. The clinical features of patients with KCNQ2 variants including that mainly with seizure onset in neonate, the main seizure type is focal seizures, seizures occur in clusters. Patients with de novo KCNQ2 variants often had developmental delay, and about half of them had frontal and temporal lobe dysplasia and agenesis of corpus callosum. Sodium channel blockers are effective agents for epilepsy patients with KCNQ2 variants.
ObjectiveTo analyze the genotype and clinical features of children with epilepsy associated with CACNA1A variants. MethodsThe genotype, phenotype and neuroimaging features of 27 patients with CACNA1A variants in the pediatrics department of Peking University First Hospital from September 2013 to February 2022 were analyzed. ResultsThere were 9 males and 18 females, whose age ranged from 6 months to 19 years old (medium: 4 years old and 3 months). There were 22 missense variants, three nonsense variants and two frameshift variants. 25 variants were de novo. Age at seizure onset ranged from 1 day to 8 years old and 6 months (medium: 14 months). Multiple seizure types were observed, including focal seizures in 20 patients, generalized tonic–clonic seizures (GTCS) in 7 patients, absence seizures in 5 patients, myoclonic seizures in 3 patients, epileptic spasms and tonic seizures in 1 patient respectively. 16 patients had status epilepticus, including focal motor status epilepticus in 14 patients and generalized motor status epilepticus occurred in two patients. Two patients had acute encephalopathy. All 27 patients showed developmental delay. Interictal electroencephalogram showed generalized discharges in 8 patients, multi-focal discharges in 4 patients and focal discharges in 11 patients. Unilateral cortical atrophy occurred in 5 patients after focal motor status epilepticus. Two patients had bilateral cerebral atrophy after acute encephalopathy. Cerebellar atrophy in 2 patients. The age of last follow-up ranged from one year old to 17 years old and 3 months. Six patients were seizure-free , whereas 21 still had seizures. ConclusionThe seizure onset age of patients with CACNA1A variants usually began in infancy. The common seizure types include focal seizures, GTCS and absence seizures. Seizures are prone to status epilepticus, mainly focal motor status epilepticus. Patients usually had developmental delay. Unilateral cortical atrophy may occur after focal motor status epilepticus. Epilepsy associated with CACNA1A variants is usually refractory.
Objective To explore the oxygen therapy effects of high-flow T-tube oxygen therapy on neurointensive care patients who have undergone tracheostomy and are undergoing mechanical ventilation while meeting the criteria for weaning from mechanical ventilation, especially in terms of controlling airway temperature and humidity, promoting mucus dilution, and reducing postoperative complications. MethodsCollected data from 50 neurointensive care patients who underwent tracheostomy and were on mechanical ventilation, meeting the criteria for weaning from mechanical ventilation, treated at West China Hospital of Sichuan University from September 2019 to September 2021. The three groups of patients had different weaning methods: a high-flow T-tube for weaning, a heat and moisture exchanger (artificial nose) for weaning, and a high-flow tracheal joint for weaning. The vital signs, dyspnea and blood gas analysis before and three days after weaning were collected. The primary outcomes were mechanical sputum excretion, postural drainage, phlegm-resolving drugs use, airway-related events (artificial airway blockage, artificial nose blockage, lung infection), stay in ICU (days), and death in ICU. Results Among the 50 patients, 28 were males and 22 were females. There were no significant differences in age, weight, height, gender, finger pulse oxygen saturation, heart rate, APACHEII score, sequential organ failure assessment, or Glasgow coma scale among the three groups (P>0.05). There was no statistical difference in the number of 72-hour mechanical sputum excretion or the use of phlegm-resolving drugs in the three groups (P=0.113, P=1.00). Conclusion The use of high-flow T-tube oxygen therapy in neurointensive care patients who have undergone tracheostomy, are on mechanical ventilation, and meet the criteria for weaning from mechanical ventilation can effectively control airway temperature and humidity, promote mucus dilution for better drainage, thereby reducing post-tracheostomy complications.