Objective:To investigate the predictive value of mechanism Glasgow age blood pressure score (MGAPS), revised trauma score (RTS) and modified rapid emergency medicine score (mREMS) in predicting the mortality risk of patients with acute traumatic brain injury (TBI) within 24 hours.Methods:A case control study was performed for clinical data of 1 156 patients with acute TBI admitted to Affiliated Hospital of Nantong Hospital from January to December of 2020, including 745 males and 411 females; aged 18-100 years [(59.9±15.1)years]. Glasgow coma score (GCS) was 3-15 points [15(9, 15)points]. The patients were divided into death group ( n=87) and survival group ( n=1 069) according to death or not within 24 hours. Vital signs, general data, MGAPS, RTS and mREMS were documented at emergency visit. Differences in the specific scores and severity levels of the patients using the three scoring systems were compared between the two groups. Receiver operating characteristic (ROC) curve was plotted for the three scoring systems based on the specific scores and severity levels of the patients. While the area under the curve (AUC), sensitivity, specificity, optimal threshold and Youden index were determined to estimate the value of the three scoring systems in predicting death risk in patients with acute TBI within 24 hours. Results:Death group showed significantly decreased scores in MGAPS [17(12, 19)points] and RTS [5.0(4.1, 6.0)points] and significantly increased score in mREMS [9(7, 12)points] when compared with survival group (all P<0.01). The proportion of moderate- and high-risk patients for MGAPS and proportion of high-risk patients for RTS and mREMS in death group were significantly higher than those in survival group (all P<0.01). As indicated by the ROC curve plotted based on the specific scores, mREMS had the maximum AUC (0.88), followed by MGAPS (0.86) and RTS (0.86); the sensitivity of mREMS, MGAPS and RTS was similar (80.5%, 86.2% and 82.8%, respectively), while mREMS showed the highest specificity (83.4%) compared to MGAPS (78.0%) and RTS (82.3%); the optimum threshold of mREMS, MGAPS and RTS, was 6 points, 6.08 points and 20 points; the Youden index of MGAPS, RTS and mREMS was 0.64, 0.64 and 0.65. As indicated by the ROC curve plotted based on the injury severity, MGAPS had the highest AUC (0.84), followed by RTS (0.70) and mREMS (0.59); MGAPS also had the highest sensitivity (92.0%), higher than RTS (47.1%) and RTS (18.4%); when mREMS showed the highest specificity(98.8%) compared to RTS (93.7%) and MGAPS (68.8%); the optimal threshold of MGAPS, RTS and mREMS was 22 points, 4 points and 13 points; the Youden index of MGAPS, RTS and mREMS was 0.61, 0.41 and 0.17. Conclusions:MGAPS, RTS and mREMS can be predictive in assessing the mortality risk of patients with acute TBI within 24 hours. mREMS has the highest prediction value, with an optimal threshold of 6 points when the risk assessment is made in accordance with specific scores of the patients. MGAPS has the highest prediction value when the risk assessment is assessed by the injury severity.

Objective:To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c. 609G>A homologous variant. Methods:A retrospective study on the clinical manifestations, complications, treatment, and outcome in 164patients of cblC type with MMACHC c. 609G>A homologous variant was conducted.The patients were diagnosed by biochemical and genetic analysisfrom January 1998 to December 2020. Results:Among the 164 patients, 2 cases were prenatally diagnosed and began treatment after birth. They are 3 and 12 years old with normal physical and mental development. Twenty-one cases were diagnosed by newborn screening. Among them, 15 cases had with normal development. They were treated fromthe age of two weeks at the asymptomatic period. Six cases began treatment aged 1 to 3 months after onset. Their development was delayed. One hundred and forty-one cases were clinically diagnosed. Their onset age ranges from a few minutes after birth to 6 years old. 110 cases had early-onset (78.0%). 31 cases had late-onset (22.0%). Five of them died. 24 patients lost to follow-up. Of the 141 clinically diagnosed patients, 130 (92.2%) with psychomotor retardation, 69 (48.9%) with epilepsy, 39 (27.7%) with anemia, 30 (21.3%) had visual impairment, 27 (19.1%) had hydrocephalus, 26 (18.4%) had feeding difficulties, 7 (5.0%) with liver damage, and 5 (3.5%) with metabolic syndrome. The frequency of hydrocephalus and seizures was significantly higher in the early-onset group. The urinary methylmalonic acid increased significantly in the patients with epilepsy. During the long-term follow-up, the level of plasma total homocysteine in the seizure-uncontrolled group was significantly higher than that in the seizure-controlled group, the difference had a statistical significance ( P<0.05). Conclusion:Most of the patients with MMACHC c. 609G>A homozygous variant had early-onset disease, with a high mortality and disability rate. If not treated in time, it will lead to neurological damage, resulting in epilepsy, mental retardation, hydrocephalus, and multiple organ damage. Pre-symptomatic diagnosis and treatment are crucial to prevent irreversible neurological damage. Neonatal screening and prenatal diagnosis are important to improve the outcome of the patients.

Objective:The clinical manifestations, types of gene mutations, therapeutic effects and prognostic characteristics of 15 children with cblC type methylmalonic acidemia (MMA) and hydrocephalus were analyzed to improve the clinical understanding of the disease, so as to provide a basis for the treatment of the disease.Methods:From April 2015 to January 2019, 15 patients with MMA and hydrocephalus in Department of Pediatric Surgery, Peking University First Hospital were enrolled, and all gene detection showed clbC type.All the 15 patients underwent ventriculoperitoneal shunt.After surgery, the clinical manifestations and imaging findings were applied as the basis to adjust the pressure of the diverter valve appropriately.Clinical data and gene mutation characteristics of 15 children with cblC type and hydrocephalus were retrospectively analyzed, and the therapeutic effects and prognosis were summarized and analyzed as well.Results:There were 8 males (53.3%) and 7 females (46.7%), aged from 2 to 33 months.All the cases were followed up from 11 to 55 months, without death case and serious postoperative complications of hydroce-phalus.The head circumference of 3 cases (20.0%) was in the normal range, 1 case (6.7%) was greater than the normal range, and 11 cases (73.3%) were less than the normal range.Four patients (26.7%) were transferred to the pediatric intensive care unit after surgery.c.609G>A mutation was the most common in this study, with 7 cases (46.7%) of c. 609G>A homozygous mutation, and 5 cases (33.3%) of c. 609G>A heterozygous mutation.Clinical symptoms of intracranial hypertension were relieved or disappeared.The head circumference progressive enlargement was stopped.The anterior fontanelle tension greatly decreased, all " setting-sun" sign of eyes disappeared, and vision loss and hearing loss were better compared with the pre-operation.Four cases (26.7%) displayed normal intelligence and exercise, and 11 cases (73.3%) were left with mild to severe psychomotor retardation.During the follow-up pe-riod, the head CT showed that the ventricle was remarkably narrowed, and interstitial brain edema obviously improved.Conclusions:Ventriculoperitoneal shunt in the treatment of cblC type MMA with hydrocephalus has positive effects.The head circumference of most cblC type MMA with hydrocephalus is less than the normal range.c.609 G>A is the most common mutation in cblC type MMA with hydrocephalus.Perioperative " metabolic crisis" can result in serious complications.

Objective:To understand the real physical and mental experience of family caregivers for centenarians in the long-term care process and to provide a basis for alleviating the pressure of caregivers and reducing social burdens.Methods:Using the purposive sampling method, family caregivers of centenarians in Rugao City of Jiangsu Province from April to June 2020 were selected as the research objects.The phenomenological research method in qualitative research was used to conduct in-depth interviews with family caregivers of centenarians. The content analysis method was used to analyze the data, sort out and extract the theme.Results:After comparative analysis, the physical and mental experience of family caregivers of centenarians revealed three themes. including grateful heart, diversified care pressure and social support needs to be further improved.Conclusions:Long-term family care work has a negative effect on the life of the centenarian family caregivers. The government, community and social workers should take the initiative to intervene and provide multi-channel support to reduce the physical and mental stress of the family caregivers and improve the satisfaction and quality of life of both caregivers and centenarians.

Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.

Currently, enhanced recovery after surgery (ERAS) has been widely accepted by surgery and anesthesiology all over the world, and applied in colorectal surgery, gynecology, liver surgery, breast surgery, urology and spinal surgery. But ERAS are rarely used in the field of interventional bronchoscopy. In recent years, more and more researchers have begun to explore the application of ERAS in bronchoscopic interventional therapy. This article discussed that preoperative preparation, anesthesia, intraoperative operation, postoperative observation and other aspects can influence interventional bronchoscopy.
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Anesthesia ; methods ; Bronchoscopy ; methods ; Humans ; Length of Stay ; Outcome Assessment (Health Care) ; Perioperative Care ; methods ; Recovery of Function ; Tracheal Neoplasms ; physiopathology ; surgery ; Tracheotomy ; methods

Purpose To investigate the expression of cell cycle related protein including Cyclin D1,CDK4,p16 and IgH/CCND1 fusion gene in mantle cell lymphoma (MCL) and their relationship with each other.Methods The expression of cell cycle related protein including Cyclin D1,CDK4,p16 and IgH/CCND1 fusion gene were detected on the 40 cases of MCL (expreimental group) and 20 cases of reactive hyperplasia (control group) by using the combined detection of fluorescence in situ hybridization (FISH) and immunohistochemistry of EnVision two methods.40 cases of MCL were confirmend by using gene rearrangement technique and immunohistochemistry.The threshold of IgH/CCND1 fusion gene of MCL was established in the control group.Results In the experimental group,Cyclin D1 protein positive expression rate was 100％,the positive expression of CDK4 protein rate was 87.50％,p16 protein positive expression rate was 17.50％.Positive rate of IgH/CCND1 fusion gene of 100％.These cell cycle related protein and IgH/CCND1 fusion gene were negative in the control group.Conclusion In MCL,Cyclin D1-CDK4-p16 pathway is consistent with the principle of tumor cell cycle regulation.The establishment of threshold value of IgH/CCND1 fusion gene by FISH technique may provide the basis for the judgement of FISH of the IgH/CCND1 in China.

Objective To summarize the experience of the ventriculoperitoneal shunt in treating children with methylmalonic aciduria combined with hydrocephalus,and to assess the clinical value.Methods From September 2012 to May 2016,a total of 12 patients with methylmalonic aciduria combined with hydrocephalus in Peking University First Hospital were enrolled,including 7 boys and 5 girls.All the 12 patients underwent ventriculoperitoneal shunt.Drug therapy was performed after surgery.The clinical manifestations and imaging findings were used as the basis for adjusting the pressure of the diverter valve appropriately.The clinical condition of patients were evaluated retrospectively.The patients' clinical symptoms,signs,imaging materials,surgical complications and postoperative prognosis were analyzed.Results All the cases were followed up for 3 to 36 months,no death case and no serious postoperative complications of hydrocephalus occurred.Clinical symptoms of intracranial hypertension were relieved or disappeared.The head circumference progressive enlargement stopped.The anterior fontanelle tension decreased significantly.Setting-sun sign of eyes disappeared.One out of 4 cases with convulsion and epilepsy was relieved after the operation.Seven cases of poor vision or vision loss,postoperative visual acuity were improved though not recover to normal eyesight.One case of the children with hearing loss,postoperative hearing recovered.During the follow-up period,the head CT showed that the ventricle was narrowed significantly,interstitial brain edema improved obviously.Conclusion Ventriculoperitoneal shunt is a effective method for treating children with methylmalonic aciduria combined with hydrocephalus,which is beneficial for patients with these diseases.

SUMMARY Hemophilia A is aninherited bleeding disorder, lack of coagulation factorⅧ( FⅧ) , and if combined with intracranial malignant tumor, the operation risk is very high. Department of Pediatric Sur-gery in Peking University First Hospital used coagulation factor replacement therapy, succeeded in the operation of 2 cases of intracranial malignant tumor with hemophilia A in children, with no abnormal bleeding events. The establishment of the multi subject cooperation group before operation, good preoper-ative preparation, enough alternative factors, and close postoperative monitoring, are the key to the suc-cessful treatment.

Purpose To investigate the corre1ation of the epiderma1 growth factor receptor( EGFR)gene mutation and amp1ification and protein expression with occurrence and deve1opment of non-sma11 ce11 1ung cancer( NSCLC),and to exp1ore the re1ationship be-tween the mutation and amp1ification of EGFR gene and other c1inica1 patho1ogica1 parameters. Methods qRT-PCR,FISH and immu-nohistochemistry were used to detect EGFR gene(exons 18,19,20 and 21)mutation,amp1ification and protein expression in paraf-fin-embedded tissues of NSCLC. Results EGFR gene(exons 18,19,20 and 21)mutation rate was 58. 18%(32/55)in NSCLC with qRT-PCR techno1ogy,in which the occurrence rate of exon 19 de1etions and exon 21 mutation of L858R was 87. 50%(28/32). EGFR gene mutation rate was significant1y different in gender,smoking history and patho1ogica1 type(P<0. 01),but no statistica1 sig-nificance in age,1ymph node metastasis and TNM staging(P>0. 05). EGFR gene amp1ification rate was 23. 64%(13/55)and its protein expression rate was 70. 91%(39/55). Both EGFR gene mutation and amp1ification was c1ose1y corre1ated(P<0. 05),but the two states of EGFR gene and its protein expression had no corre1ation(P>0. 05). Conclusion EGFR gene mutation with high pro-tein expression of NSCLC is common1y found in fema1e,no-smoking and adenocarinoma patients,who are main candidates of a tyrosine kinase inhibitor( TKI)screening. EGFR gene mutation and amp1ification is typica11y corre1ated,but their consequence is unknown, which needs to be further investigated. EGFR gene mutation and amp1ification is not consistent with protein expression,its under1ying machanism is to be determined.