Whole-exome and targeted gene sequencing of large-cell lung carcinoma reveals recurrent mutations in the PI3K pathway.

BACKGROUND: Large cell lung carcinoma (LCLC) is an exceptionally aggressive disease with a poor prognosis. At present, little is known about the molecular pathology of LCLC. METHODS: Ultra-deep sequencing of cancer-related genes and exome sequencing were used to detect the LCLC mutational in 118 tumor-normal pairs. The cell function test was employed to confirm the potential carcinogenic mutation of PI3K pathway. RESULTS: The mutation pattern is determined by the predominance of A > C mutations. Genes with a significant non-silent mutation frequency (FDR) < 0.05) include TP53 (47.5%), EGFR (13.6%) and PTEN (12.1%). Moreover, PI3K signaling (including EGFR, FGRG4, ITGA1, ITGA5, and ITGA2B) is the most mutated pathway, influencing 61.9% (73/118) of the LCLC samples. The cell function test confirmed that the potential carcinogenic mutation of PI3K pathway had a more malignant cell function phenotype. Multivariate analysis further revealed that patients with the PI3K signaling pathway mutations have a poor prognosis (P = 0.007). CONCLUSIONS: These results initially identified frequent mutation of PI3K signaling pathways in LCLC and indicate potential targets for the treatment of this fatal type of LCLC.

The effect of hematoma puncture drainage before decompressive craniectomy on the prognosis of hypertensive intracerebral hemorrhage with cerebral hernia at a high altitude / 中华创伤杂志(英文版)

PURPOSE@#Rapid decompressive craniectomy (DC) was the most effective method for the treatment of hypertensive intracerebral hemorrhage (HICH) with cerebral hernia, but the mortality and disability rate is still high. We suspected that hematoma puncture drainage (PD) + DC may improve the therapeutic effect and thus compared the combined surgery with DC alone.@*METHODS@#From December 2013 to July 2019, patients with HICH from Linzhi, Tibet and Honghe, Yunnan Province were retrospectively analyzed. The selection criteria were as follows: (1) altitude ≥1500 m; (2) HICH patients with cerebral hernia; (3) Glascow coma scale score of 4-8 and time from onset to admission ≤3 h; (4) good liver and kidney function; and (5) complete case data. The included patients were divided into DC group and PD + DC group. The patients were followed up for 6 months. The outcome was assessed by Glasgow outcome scale (GOS) score, Kaplan-Meier survival curve and correlation between time from admission to operation and prognosis. A good outcome was defined as independent (GOS score, 4-5) and poor outcome defined as dependent (GOS score, 3-1). All data analyses were performed using SPSS 19, and comparison between two groups was conducted using separate t-tests or Chi-square tests.@*RESULTS@#A total of 65 patients was included. The age ranged 34-90 years (mean, 63.00 ± 14.04 years). Among them, 31 patients had the operation of PD + DC, whereas 34 patients underwent DC. The two groups had no significant difference in the basic characteristics. After 6 months of follow-up, in the PD + DC group there were 8 death, 4 vegetative state, 4 severe disability (GOS score 1-3, poor outcome 51.6 %); 8 moderate disability, and 7 good recovery (GOS score 4-5, good outcome 48.4 %); while in the DC group the result was 15 death, 6 vegetative state, 5 severe disability (poor outcome 76.5 %), 4 moderate disability and 4 good recovery (good outcome 23.5 %). The GOS score and good outcome were significantly less in DC group than in PD + DC group (Z = -1.993, p = 0.046; χ@*CONCLUSION@#PD + DC treatment can improve the good outcomes better than DC treatment for HICH with cerebral hernia at a high altitude.

A case of Galen vein thrombosis occurring after bilateral acetabular fractures in the Tibet plateau - what can we learn? / 中华创伤杂志(英文版)

Hypoxia leads to increased red blood cells and blood viscosity at high altitude while moderate trauma increases coagulation in blood. Under the above-mentioned conditions, venous sinus thrombosis is more likely to occur. A patient suffering bilateral acetabular fractures together with the gradual disturbance of consciousness was admitted to our hospital. Though computed tomography arteriogram (CTA) of the brain displayed normal blood vessels; bilateral thalamus and brainstem infarction were found on head computed tomography (CT) and Galen vein thrombosis on cerebral computed tomography venography (CTV). Dehydration and tracheotomy were immediately conducted with antiplatelet, anticoagulant and neurotrophic medicine administered to the patient. After three days' treatment, the patient's consciousness gradually improved and eventually became clear enough to leave the hospital. On follow-up, no dysfunction was documented.

[Changes of cranio-facial hard tissue after orthodontic treatment in bimaxillary protrusive patients].

OBJECTIVE: The aim of this study is to investigate the changes of hard tissue profile in anterior-posterior and vertical direction in bimaxillary protrusion patients after orthodontic treatment. METHODS: A total of 24 bimaxillary protrusion patients (male 8, female 16), aged from 11.2 to 29.0 (average 16.9 years old), were selected to be treated with standard edgewise technique consisted of 4 first premolars extraction. Cephalometrics were taken before and after treatment. The changes of hard tissue profile were studied using the computer-aid X-ray cephalometric analysis. RESULTS: 1. The length of the maxillary and the mandible increased significantly, but the anterior-posterior relationship of the maxillary and the mandible did not change significantly. 2. The anterior and posterior facial height increased significantly, but the ratio of anterior and posterior facial height and the angle of MP-FH which reflected the inclination of the mandible plane did not change significantly. 3. The height of the upper and lower first molar increased significantly along with the increase of the anterior and posterior facial height. 4. The height of the upper incisors increased significantly, but the height of the lower incisors decreased significantly. CONCLUSION: The anchorage in anterior-posterior and vertical direction were controlled preferably, the patients did not manifest disadvantageous vertical growth trend.