Volume 100 ·  Issue 09 ·  2020

The development of critical care medicine requires all kinds of monitoring, and critical care is also achieved through intravenous or arterial catheterization. Vascular catheterization is usually operated by body surface positioning method. This operation method often has various catheterization-related complications, and some clinicians even think it is difficult to avoid it. The occurrence of catheterization-related complications seriously affects the treatment of patients. At this node, we propose a new standard for critical treatment "one needle, one eye, one catheter" to minimize the complications related to catheterization. To realize this standard, we need to change the original concept of catheterization and establish a new standard concept of critical treatment, so that it can be realized through some methods.

The number of dementia patients in China is increasing year by year, and there is a lack of dementia specialists and memory clinics. The current situation of dementia is severe, so it is necessary to put forward a suitable diagnosis and treatment model. The "cognitive unit" diagnosis and treatment model composed of memory clinic, ward and laboratory is a hospital diagnosis and treatment model suitable for the current situation of dementia in China. The memory clinic is the foundation, and clinical research and laboratory research are central to the quality of the cognitive center. This model is very important to improve the diagnosis and treatment level of cognitive diseases, and can establish a dementia diagnosis and treatment system with Chinese characteristics.

With the development of individualized medicine and the concept of "precision medicine", tumor drug therapy has developed rapidly, and clinical research has gradually discovered and confirmed more gene mutations related to the prediction of drug therapy efficacy^[1]。 Traditional gene mutation detection methods such as Sanger sequencing, pyrosequencing and real-time fluorescence PCR can only detect a single gene or partial exon mutations of a single gene. Using the above traditional gene mutation detection methods to detect multiple genes at the same time, one requires a large sample size, and the second requires a longer detection time and a greater workload. High-throughput sequencing (HTS), or next-generation sequencing (NGS), can sequence millions or even billions of DNA fragments at the same time, and can realize up to hundreds of tumor-related genes at a time at a lower cost. The whole exon and whole genome are tested, and the required sample size does not increase. Due to its advantages in throughput, cost and efficiency, NGS has shown its broad application prospect in somatic gene mutations in solid tumors^[2]。

Genetic diseases are diseases caused by genetic mutations or variations in the number or structure of chromosomes. According to the changes of genetic material, it can be divided into monogenic diseases, polygenic diseases, chromosomal diseases, mitochondrial genetic diseases and somatic genetic diseases^[1]。 At present, more than 6,000 genetic diseases with known molecular basis have been included in the Human Online Mendelian Genetic Database (OMIM)^[2]。 Because of genetic heterogeneity and phenotypic diversity, conventional detection methods such as Sanger sequencing and chromosome chip analysis (CMA) are difficult to meet the needs of clinical applications in terms of cost, throughput and diagnostic sensitivity. In recent years, high-throughput sequencing, or next-generation sequencing (NGS) technology, has been widely used in the field of genetic disease diagnosis because it can sequence multiple genes, even the whole exome and the whole genome at the same time, and has greatly improved the expectation of genetic disease diagnosis^[3]。 However, compared with the previous technology, the detection operation steps based on NGS technology are many, and the requirements of personnel ability are high. Irregular or excessive use may cause unexpected troubles and harm to the subjects and their families. In order to ensure the standardized application of high-throughput sequencing technology in clinical detection of genetic diseases, we should learn from relevant guidelines, standards, norms and authoritative published documents at home and abroad, as well as the Beijing Expert Consensus on Standardized Application of High-throughput Sequencing Technology in Clinical Detection (General Part of the First Edition)^[4](hereinafter referred to as "General Consensus"), Beijing Clinical Laboratory Center, Laboratory Medicine Branch of Beijing Medical Association, Department of Clinical Laboratory Diagnosis of Capital Medical University, and Beijing Medical Laboratory Quality Control and Improvement Center took the lead in drafting the "Beijing Expert Consensus on Clinical Standardized Application of High-throughput Sequencing Technology (First Edition Genetic Diseases Part)". The statements in this consensus are the points discussed and recommended by experts.

To investigate the safety and efficiency of ultrasonic bone curette used in anterior cervical discectomy and fusion surgery.

As a retrospective study, we collected and analyzed the clinical data of 47 patients receiving anterior cervical discectomy and fusion surgery in Luohe Central Hospital from January 2014 to January 2017, there were 26 males and 21 females with a mean age of (52±9) years. According to the different surgical tools used in the process of decompression by resecting osteophytes or bone like an inverted Chinese character "八" located at the posterior margin of the vertebral body, the patients were divided into two groups: ultrasonic bone curette group (group A) and traditional tools group (group B). The operating time, volume of intraoperative blood losing, complications, Japanese Orthopedic Association (JOA) score before and after the operation and improvement rate were recorded in the two groups. The t test was used to compare the data between the two groups.

In group A, the operating time was (47±7) min, blood loss was (49±4) ml, 1 case experienced urinary tract infection and there was no cerebrospinal fluid leakage or spinal cord injury. In group B, the operating time was (54±12) min and the blood loss was (117±16) ml, cerebrospinal fluid leakage occurred in 2 patients and the incision healed one-stage by local compression, hoarseness happened in 1 case and it disappeared after 2 weeks, 2 patients had swallowing discomfort and recovered in one month, no spinal cord injury occurred in this group. The operating time and blood loss in group A were lower than those in group B (t=2.691, 20.704, both P<0.05). And the incidence of complications in group A were lower than that in group B (χ²=4.157, P=0.041). The JOA score of group A at 3 days after surgery was improved for 39.0% when compared with that before the surgery, and it was improved for 71.6% at one year after the surgery. The JOA score in group B at 3 days after surgery was elevated for 38.7% from that before the surgery, and it increased for 69.4% at one year after the surgery. There was no significant different in JOA score before the surgery, 3 days and one year after the surgery between the two groups (t=0.611, 1.076, 0.061, all P>0.05).

In the process of decompression by resecting osteophytes or bone located at the posterior margin of the vertebral body in the anterior cervical discectomy and fusion surgery, ultrasonic bone curette is safe and effective, and it can effectively shorten the operating time, decrease the blood loss and cut down the incidence of complications.

To explore and analyze the clinical efficacy of fixation bone fragments by screw though cortical bone tunnel combined with limited open reductionin treating 31A3 type irreducible femoral intertrochanteric fractures in elderly people.

Clinical data of 18 elderly patients with 31A3 type irreducible femoral intertrochanteric fractures treated from July 2017 to June 2018 in Orthopedics Department of Jiangsu Province Hospital were collected and analyzed retrospectively. There were 8 males and 10 females, aged from 65 to 88 years (mean age,(76±4) years). When confirmed as irreducible femoral intertrochanteric fractures by C-arm machine during operation, limited open reduction and fixation bone fragments by screw though cortical bone tunnel and intramedullary nail fixation were conducted. General surgical data,the quality of fracture reduction and functional recovery scale (FRS) score were collected.Data before and after operation were compared with paired t-test.

All patients were followed up for a mean of 13.6 months (10 to 22 months). The surgical time was (55±13) min (42 to 95 min), the intraoperative blood loss was (223±26) ml (180 to 320 ml), the number of intraoperative fluoroscopy was 23±4 (18-32 times), and the fracture healing time was (4.8±0.7) months. The quality of fracture reduction was rated as grade Ⅰ in 15 cases andgrade Ⅱ in 3 cases, with an excellent to good rate of 100% according to Kim classification. FRS score was 84±10 at the last follow-up and it was comparable with that before injury (84±11) (t=0.144, P=0.887).

For elderly patients with 31A3 type irreducible femoral intertrochanteric fractures, fixation bone fragments by screw though cortical bone tunnel combined with limited open reduction is an efficient treating method with advantages of high quality of fracture reduction and fixation without increasing of surgical time and blood loss.

To evaluate the relationship between admission mean platelet volume (MPV) and 2-year cardiac mortality in patients with stable coronary artery disease (CAD) undergoing elective percutaneous coronary intervention (PCI), and explored the consistence of this relationship in diabetes mellitus (DM) and non-DM subgroups.

A total of 4 293 patients who underwent PCI in Fuwai Hospital in 2013 were enrolled and divided into two groups according to MPV as follows: lower MPV (n=2 219, MPV≤10.5fL) and higher MPV (n=2 074, MPV>10.5fL).

Patients with high MPV had a higher rate of DM (30.4%(674/2 219) vs 34.5%(715/2 074)), smoking (53.3%(1 183/2219) vs 57.0%(1 182/2 074)), and previous coronary artery bypass grafting (CABG) (4.0%(88/2 219) vs 5.4%(112/2 074)), while left ventricular ejection fraction (LVEF) (64±7 vs 63±7), and glomerular filtration rate (eGFR) (92±14 vs 91±15) were lower compared with patients in the low MPV group (all P<0.05). In the laboratory examination, patients with high MPV had higher glycosylated hemoglobin, and lower platelet count (all P<0.05). In coronary angiography, there was no significant difference in SYNTAX scores, left main/three-vessel lesions, stent type, success rate of operation, and total stent length (all P>0.05). Compared with low MPV group, patients with high MPV had ahigher cardiac mortality [18 (0.9%) vs 5 (0.2%), P=0.004]. Kaplan-Meier analysis showed that compared to low MPV group, cardiac mortality in high MPV group was significantly higher (Log-rank P=0.004). Multivariate Cox regression analysis showed that high MPV was independently associated with 2-year cardiac mortality (HR 4.127, 95%CI 1.373 to 12.405, P=0.012). Receiver operating characteristic curve (ROC) analysis also showed that MPV had a good diagnostic value in predicting 2-year cardiac mortality (area under the curve=0.624, 95%CI: 0.511-0.738, P=0.04). Subgroup analysis showed that in patients with DM (HR 2.090, 95%CI 1.217-3.589, P=0.008) and male (HR 1.561, 95%CI 1.007-2.421, P=0.047), MPV was significantly related with cardiac mortality.

In patients with stable CAD who underwent elective PCI, high MPV was independently associated with an increase in 2-year cardiac mortality, especially in patients with DM and male gender.

To investigate the clinical characteristics, treatment and prognosis of myelin oligodendrocyte glycoprotein antibody-associated optic neuritis (MOG-ON) in pediatric patients.

Clinical data, laboratory examination, the initial best corrected visual acuity (BCVA), fundus, neuroelectrophysiological results, MRI imaging, treatment and prognosis of children diagnosed with MOG-ON from 2016 to 2019 were retrospectively analyzed.

A total of 29 eyes from 16 children were involved, with a male/female ratio of 1∶1, onset age of (7.0±2.9) years. Seven of 16 patients had prodromal infection, with a unilateral/bilateral ratio of 3∶13, and 2 cases had recurrent optic neuritis. Before treatment, BCVA of 19 eyes (65.5%) was ≤0.1, among them, 4 had no sense of light, 5 had light sense, 5 with sense of hands in front of eyes, and 5 with sense of fingers in front of eyes. There were 10 eyes (34.5%) with BCVA of 0.1-0.5. After treatment, there were 4 eyes (13.8%), 5 eyes (17.2%) and 20 eyes (69.0%) in groups with BCVA of 0.1-0.5, 0.5-1.0, and>1.0, respectively. Twelve of 16 patients had optic papillitis in fundus examination during acute phase. The latency was prolonged and the amplitude was decreased in P100 wave of all the children. Thirteen out of 16 children showed swelling and thickening of optic nerve in MRI T2WI. MRI images exhibited intracranial demyelinating lesions in 12 of 16 children and long segment spinal cord lesions in 3 of 16 children. Thirteen of 16 patients showed effective results after intravenous methylprednisolone (IVMP) and intravenous immunoglobulin (IVIG) treatment. There was no relapse after administration of mycophenolate mofetil in 2 recurrent children. No progression after administration of rituximab was found in 1 child with corticosteroid insensitivity. The average follow-up time was (16±9) months and no recurrence occurred. Ten of 16 patients had full recovery, 4 had significant improvement, and 2 showed no significant improvement.

There is no significant gender difference in the incidence of pediatric MOG-ON. Bilateral involvement and severe visual impairment are common in acute phase. Most patients have good response to IVMP combined with IVIG treatment and hence have a good prognosis. Only a few of them have neurological sequelae.

To explore the value of CT radiomics quantitative features in the prediction of epidermal growth factor receptor (EGFR) mutation in lung cancer.

The data of 144 patients, 75 males, 69 females, median age 54 (25-68 years), with EGFR gene test results in lung cancers diagnosed in the First Affiliated Hospital of Soochow University were retrospectively analyzed, including 81 patients, 39 males, 42 females, median age 52 (25-64)years old, with EGFR mutations and 63 patients,36 males,27 females,median age 56(32-68) years old,with EGFR wild types. According to a ratio of 2︰1, patients were randomly assigned to the training group and validation group. MaZda software was used to extract radiomics features including the gray level histogram (GLH), absolute gradient (GRA), gray-level co-occurrence matrix (GLCM), gray-level run-length matrix (GLRLM), auto-regressive model (ARM) and wavelets transform (WAV), and so on. Fisher coefficients (Fisher), classification error probability combined average correlation coefficients (POE+ACC) and mutual information (MI) were used to select 10 optimal features making up the optimal feature subsets. The optimal feature subsets were analyzed by using linear discriminant analysis (LDA) and nonlinear discriminant analysis (NDA) to calculate the accuracy, sensitivity and specificity in the differential diagnosis of EGFR mutant types and wild types in lung cancers. The prediction model was established using the optimal feature subsets with the highest accuracy in the training group with artificial neural network (ANN). The established prediction model was used to differentiate EGFR mutant types from wild types in the validation group.

MaZda software extracted a total of 301 quantitative features in the CT images for the patients with EGFR mutant types and EGFR wild types in the training group. The optimal feature subsets obtained from Fisher-NDA and (POE+ACC)-NDA had the highest accuracy of 93.8%, in the differential diagnosis of the EGFR mutant types and EGFR wild types of lung cancer in the training group. The optimal feature subset prediction model obtained from Fisher-NDA had the accuracy, sensitivity and specificity of 83.3%, 86.7% and 77.8%, respectively, in the differential diagnosis of the EGFR mutant types and EGFR wild types of lung cancer in the validation group.

The optimal subset of CT radiomics features has high accuracy in predicting EGFR mutations in lung cancer, providing a new method for predicting gene expression of lung cancer.

To study the clinical efficacy of ultrasound-guided percutaneous microwave ablation and surgical resection for liver metastases from colorectal cancer.

Retrospective analysis of 184 patients with liver metastases from colorectal cancer in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from January 2012 to June 2017.Percutaneous microwave ablation or surgical resection for liver metastases were selected under ultrasound guidance. Subgroup analysis was performed according to the treatment of liver metastases. There were 98 patients in the microwave-only group (56 males and 42 females, aged (59±11) years) and 86 cases in the surgery-only group (56 males and 30 females, aged (56±11) years). The baseline data of the two groups were compared, and the results showed that the size of the metastatic lesions in the microwave-only group was smaller than that in the surgery-only group, and the remaining data didn′t had statistical differences.The survival time of the two groups of patients was analyzed separately.According to the size of the metastases, the metastases were divided into groups with a diameter of<3 cm and a group of ≥3 cm. The survival time of patients in the microwave-only group and the surgery-only group were analyzed respectively.According to the different primary tumor grades of colorectal cancer, the survival time of patients in the simple microwave-only group and the surgery-only group in the primary tumors Duck A, Duck B, and Duck C were analyzed.

In the microwave-only group, the overall survival rates at 1, 3, and 5 years were 100%, 50.9%, and 20.9%; in the surgery-only group, the overall survival rates at 1, 3, and 5 years were 100%, 42.8%, and 20.8%, respectively. There was no significant difference in overall survival between the groups (P=0.972).Metastatic focus diameter ≥3 cm: the overall survival rates of 1, 3, and 5 years with microwave-only were 100%, 65.4%, and 12.1%; the overall survival rates of 1, 3, and 5 years with surgery-only were 100%, 59.5%, and 30.9%. There was no significant difference in overall survival between the groups (P=0.067). The long-term survival rate of the surgery-only group was greater than that of the microwave-only group (P=0.018).Metastasis diameter<3 cm: there was no significant difference in overall survival between the surgery-only group and the microwave-only group (P=0.103).In the treatment of Duck B and C liver metastases of primary colorectal cancer, there was no significant difference in overall survival between microwave alone and surgery alone (P=0.376, P=0.385).Multivariate analysis showed that the size of colorectal cancer metastases was an independent risk factor affecting the prognosis of patients with colorectal cancer liver metastases.

Percutaneous microwave ablation has a good effect on colorectal cancer liver metastases and has a similar survival prognosis as surgery.For livers with color ≥ 3 cm in colorectal cancer, the long-term survival rate of the surgery-only group is greater than that of the microwave-only group.

To analyze the correlative factors of sigmoid sinus diverticulum(SSD) formation in individuals without pulsatile tinnitus based on computed tomography angiography (CTA).

A hospital-based 1∶2 matched case-control study was performed on 42 cases with unilateral SSD and 84 controls for age, gender, and side-matched in Beijing Friendship Hospital affiliated to the Capital Medical University from January 2018 to December 2018.The signs including sigmoid sinus wall dehiscence, venous outflow dominance, transverse sinus stenosis, high jugular bulb, large emissary veins, degree of mastoid pneumatization (grade Ⅰ-Ⅳ) and empty sella, were detected and analyzed.

In SSD group and control group, there were statistically significant differences in the incidence of the sigmoid sinus wall dehiscence (66.7%(28/42) vs 19.0%(16/84)), ipsilateral transverse sinus stenosis on the dominant side of venous outflow (26.2%(11/42) vs 4.8%(4/84)), and empty sellae (19.0%(8/42) vs 7.1%(6/84))(all P<0.05).The degree of mastoid pneumatization was worse in SSD group (P<0.05). After stepwise logistic regression analysis,the sigmoid sinus wall dehiscence (P<0.01,OR=6.794,95%CI 2.530-18.245), ipsilateral transverse sinus stenosis on the dominant side (P=0.001, OR=13.293, 95%CI 2.841-62.194), and degree of mastoid pneumatization (P<0.01, OR=0.289, 95%CI 0.156-0.536) were found independently correlated with SSD.

Sigmoid sinus wall dehiscence, ipsilateral transverse sinus stenosis on the dominant side of venous outflow and mastoid pneumatization may be some of the independent correlative factors of SSD.

To investigate the clinical value of artifact identification in ankle dual-energy CT for gout diagnosis.

A total of 58 patients with gout, who were definitely diagnosed in Peking University Third Hospital from December 2018 to May 2019, were included in the case group, which were composed of 57 males and 1 female. And 37 individuals without gout were regarded as control group, which were composed of 36 males and 1 female. Dual-energy CT was performed for one foot, and the affected side or the more serious side was chosen in the case group. The dual-energy data were used in gout-recognition software to highlight the monosodium urate (MSU) with green-colored. And to compare the difference in MSU relevance ratio on the images of toenail, submillimeter spots, skins, movements and vascular calcification between two groups.

In the case group, 55 patients were revealed with MSU green-colored toenails (relevance ratio 94.8%), while 22 cases in the control groups (relevance ratio 59.5%). There was significantly statistical difference on the mean toenails numbers and the MSU distribution scores in the two groups (all P<0.01). In the case group, 47 patients were revealed with green-colored submillimeter spots (relevance ratio 81.0%),while 5 cases in the control group (relevance ratio 13.5%). The relevance ratio of submillimeter spots on tendon and ligament in the case group and control group were 75.9% (44/58) and 13.5%(5/37). There was also significantly statistical difference in the two groups on submillimeter spots (all P<0.01). And there was no significantly statistical difference in the two groups on MSU green-colored skins, movements and vascular calcification.

There is great value for gout clinical diagnosis when green-colored MSU is detected on toenails and submillimeter spots, which should not be judged as artifact simply.

Reports a case of diabetic foot patient with right toe pain, ulceration for 4 years and aggravation for 1 month. After rigorous medical treatment and related examinations, transeversal bone transfer of tibia was proposed. However, the skin condition on the inner side of the lower leg was not good before the operation, so the transversal bone removal of the fibula was performed. Two segments of the lateral fibula were osteotomized with miniature osteotomies. The two osteotomy lines were about 10 cm apart. The distal osteotomy line is about 10 cm from the tip of the lateral malleolus. On the 8th day after the surgery, the bone was moved every 6 hours and was extended inwards by 1 mm every day. After 14 days, the bone was moved back for another 14 days. Skin temperature from preoperative to postoperative, ankle brachial index, CT angiography, CT value, visual analogue scale (VAS) of pain and wound healing were evaluated by comparison. The wound was completely healed 28 days after the operation.

A patient whose main complaint was that the left solitary renal pelvis was found to be solid occupying space by CT, was suspected to be diagnosed as renal pelvis cancer. However, combined with the previous pathological findings of parotid gland, cervical lymph node and right kidney surgical resection (all suggested benign lymphoid tissue hyperplasia), and blood IgG4 was significantly elevated, the IgG4-related disease was finally diagnosed by ultrasound-guided percutaneous left renal pelvis space-occupying biopsy. This case suggests that in clinical work, we should give more consideration to the diagnosis of malignant tumors and IgG4-related diseases, not only to prevent unnecessary surgery, but also to prevent missed diagnosis of malignant tumors.

Giant cell tumor of bone is one of the most common borderline bone tumors, and its main treatment is surgery. However, for giant cell tumor of bone located near joints, spine, sacrum and pelvis, simple surgical treatment is full of challenges. In recent years, the value of drug treatment in comprehensive treatment has gradually received attention. This article reviews the clinical progress of bisphosphonate and denosumab in giant cell tumor of bone.