2017年 · 第97卷第13期

With the development of science and technology and the transformation of medical mode, the innovation of medical technology continuously changes the process of people's understanding of diseases. The transformation of medical technology can best reflect the characteristics of scientific progress in different times and leave a deep imprint of the times. The development of multi-omics represented by genomics today; Clinical application of molecular imaging combining molecular biology technology with modern imaging technology; Development and Innovation of Surgical Robot, Intraoperative Navigation and Minimally Invasive Surgical Technology; The application of medical big data analysis technology has made today's medicine more accurate and individualized from the diagnosis to treatment of diseases, from discovering the cause of diseases to predicting the outcome of diseases, and medicine has begun to enter the era of precision medicine from the era of traditional medicine. Brainstem glioma is the most complex and highly heterogeneous disease among brain tumors. Brainstem gliomas can occur in children and adults, who have completely different biological characteristics and outcomes. At present, it is still the tumor with the highest disability, mortality and recurrence rate among brain tumors^[1]。 Judging from the history of diagnosis and treatment of brainstem glioma for more than 100 years, the development of medicine in different eras affects its diagnosis and treatment process.

brainstem gliomas (BSG) are a group of gliomas originating in the midbrain, pons and medulla oblongata. Before the 1980s, BSG was considered a group of homogeneous diseases. At that time, the brainstem was still a restricted area for surgery, which resulted in a lack of adequate understanding of the pathological characteristics of BSG. In addition, the tumor itself was insensitive to radiotherapy and chemotherapy, so the overall prognosis of BSG was extremely poor^[1]。 In recent 30 years, with the continuous development of neuroimaging technology, molecular biology and tumor genomics, people have gradually recognized that BSG is a group of highly heterogeneous diseases. First, BSG as a whole has different molecular genetic properties from cerebral hemispheric gliomas; Secondly, in BSG, tumors in different age groups and different sites have different pathogenesis, growth characteristics and prognosis^{[2,3,4,5,6,7,8,9,10,11,12]}。 From the surgical point of view, although the surgical safety and resection degree of BSG have been significantly improved in recent 30 years with the development of microneurosurgical techniques, neuroimaging techniques, neuronavigation techniques and neuroelectrophysiology techniques, the brainstem is still the site with the highest surgical risk in the central nervous system. Moreover, the tumors in different parts and different growth patterns in the brainstem have their own characteristics in the selection of surgical plan, surgical complications and perioperative nursing. The heterogeneity and complexity of BSG itself determine that it needs multidisciplinary involvement for comprehensive treatment. At present, there are no multidisciplinary research and treatment teams around BSG in domestic medical units. In addition, geographical differences in medical technology have led to a still lack of unified understanding of BSG. Therefore, it is necessary to formulate an expert consensus on BSG standardized diagnosis and treatment for the reference and application of medical institutions and medical staff in clinical work.

Patient 1 (proband), male, 44 years old. In January 2010, the neck and tail of the pancreas were found due to physical examination. Follow-up until 2014. During this period, there was intermittent vomiting for 1 year, accompanied by slight abdominal distension, no radiating pain in the abdomen and back. Diabetes was found for 3 years, and insulin treatment was poorly controlled. Pancreatic surgery was performed in October 2014. Preoperative biochemical examination showed that pepsinogen I, pepsin I and gastrin-17 were elevated; Blood urea 12.6 mmol/L, creatinine 170 mmol/L, blood glucose 14.6 mmol/L, thyroid stimulating hormone TSH 4.32 uTU/L, thyroxine (T4) 103.9 nmol/L; CT plain scan (FIG. 1A) showed that a nodule of different sizes was found in the head and neck (left ↓) and tail (right ↓) of the pancreas, and the neck lesion showed a cystic necrotic area, and the tail lesion density was uniform, enhancing the arterial phase (FIG. 1B) The solid part of the cervical lesion was obviously enhanced, but the cystic necrosis area was not enhanced, and the tail lesion was uniformly enhanced, with a delayed period (Figure 1C) The degree of lesion enhancement was reduced, but it was still higher than that of normal pancreatic parenchyma. Magnetic resonance (MR) examination showed that the two lesions were at T₁WI (Figure 1D) showed a slightly lower signal, T₂WI (Figure 1E) showed a slightly high signal, and the necrotic cystic degeneration area in the neck lesion showed T₁Lower WI, T₂WI higher signal, diffusion imaging (b =800 s/mm²)(Figure 1F), the solid part of the tumor showed hyperintensity. The patient's plain thyroid CT scan in April 2014 revealed the posterior occupation of the left thyroid lobe, considering parathyroid adenoma (Figure 1G)。 April 2014 pituitary MRI T₂WI showed an enlarged pituitary gland, which was quasi-circular (Figure 1H), preoperative ultrasound showed hypoechoic nodules in the head of the pancreas with uneven internal signal echoes (Figure 1I)。 The patient underwent pancreatic surgery, and postoperative pathology confirmed a neuroendocrine tumor (stage G2) (Figure 1J)。

arrhythmogenic right ventricular cardiomyopathy (ARVC) is often characterized by malignant arrhythmias, heart failure and sudden cardiac death, with a prevalence of 1/5 000 to 1/2 000^[1], more common in men^[2],Autosomal dominant inheritance is present in 30% to 50% of patients^[3]。 Progressive apoptosis of cardiomyocytes and inflammatory myocardial injury are associated with genetic processes determined by gene mutations^[4]。 At present, 13 disease-causing genes related to ARVC have been found^[5]According to the different functions of encoded proteins, the genes causing ARVC are mainly divided into two categories: desmosome-related genes and non-desmosome-related genes. Among them, patients with positive desmosome gene mutations account for 40% to 60% of the total number of patients with gene mutations^[6]。 When the gene mutation of desmosomes occurs, the tolerance of cardiomyocytes to normal mechanical stress decreases, resulting in intercellular segregation, apoptosis, and eventually replacement by fibrous tissue. Therefore, desmosome gene mutation plays an important role in the occurrence and development of the disease. However, some non-desmosomal genes are also related to the pathogenesis of ARVC. The following discusses the mechanisms and characteristics of two main types of gene mutations.

Antiphospholipid antibody syndrome is a group of non-inflammatory autoimmune diseases with adverse pregnancy, repeated thrombosis and positive serum antiphospholipid antibody as clinical manifestations. It is also an important and treatable cause of recurrent abortion (RSA) patients. Based on clinical manifestations, pathological features and immunological studies, although its pathogenesis is not completely clear, a preliminary consensus has been formed. Low molecular weight heparin combined with aspirin anticoagulation is currently the first-line treatment plan for this disease. This review focuses on anticoagulation therapy, and expounds the pathogenesis, diagnostic criteria, anticoagulation regimen, pharmacological mechanism and drug safety of RSA associated with antiphospholipid antibody syndrome, aiming to provide reference for the research of standardized anticoagulation therapy and other diagnosis and treatment regimens of this disease.