2017年 · 第97卷第08期

Fulminant type 1 diabetes mellitus (FT1D) is a new subtype of type 1 diabetes mellitus (T1DM) proposed by Japanese scholars in 2000^[1]。 The disease has a sudden onset, critical condition and dangerous prognosis. It is an acute and critical metabolic disease that often involves internal medicine, pediatrics, obstetrics and gynecology, dermatology, emergency department and other clinical disciplines. The etiology and pathogenesis of FT1D are still unclear. Initially, it was considered that its islet autoantibody was negative, and no isletitis was found in pancreatic pathological examination. It is a new subtype different from classical T1DM, so it was classified as idiopathic T1DM. The main clinical features are acute fulminant onset, severe ketoacidosis, high blood glucose and relatively low glycosylated hemoglobin levels, and acute β cell function failure. Drug allergy syndrome, viral infection and pregnancy may be susceptible factors to FT1D. Subsequent studies have found that autoimmune diseases and human leukocyte antigen (HLA) genes may be related to FT1D. In this paper, the genetic characteristics of FT1D from HLA genes and non-HLA genes are described as follows, so as to provide reference for peers.

multiple endocrine neoplasia type 2 (MEN2) is a cancer syndrome characterized by tumor or hyperplasia of neuroendocrine cells such as thyroid, adrenal medulla and parathyroid glands. It is autosomal dominant inheritance, high penetrance rate and early onset age. MEN2 includes 2 subtypes: MEN2A and MEN2B^[1]。 The incidence rate is approximately 1 in 30 000^[1,2,3]。

Treatment of short bowel syndrome (SBS) includes parenteral/enteral nutritional support therapy, medical therapy to improve symptoms and promote intestinal adaptation, increasing the effective absorption area of the intestine and surgical treatment for SBS complications, and small bowel transplantation in case of severe parenteral nutritional support complications. Faced with SBS patients with huge individual differences, clinicians often have a lot of confusion about how to formulate reasonable and effective individualized treatment plans. In order to make every SBS patient get standardized diagnosis and treatment, the China Short Bowel Syndrome Treatment Collaborative Group was established in Nanjing on November 27, 2015. According to the progress of SBS treatment at home and abroad, the Short Bowel Syndrome Treatment Center of Nanjing General Hospital of Nanjing Military Region drafted and wrote the consensus on the diagnosis and treatment of short bowel syndrome in China, which was reviewed, discussed and revised by all members of the China Short Bowel Syndrome Treatment Collaborative Group. At the same time, it is suggested that Xinhua Hospital affiliated to Shanghai Jiaotong University should add parts related to the diagnosis and treatment of children's SBS for the reference of clinicians in decision-making.

Left heart disease-associated pulmonary hypertension (PH-LHD) is a common type of pulmonary hypertension, which can be accompanied by various left heart diseases, such as valvular heart disease, heart failure, congenital or acquired left ventricular inflow or outflow tract obstruction, and hereditary cardiomyopathy^[1]。 The prevalence of PH-LHD accounts for about 1/3 of pulmonary hypertension. Up to 80% of patients with heart failure can develop PH-LHD, including heart failure with preserved or reduced ejection fraction. Once combined with pulmonary hypertension, it can lead to aggravation of symptoms and poor prognosis^[2,3]。

Acute lymphocytic leukemia (ALL) is the most common malignant tumor in children. With the improvement of diagnostic classification technology and the application of combined chemotherapy in recent years, the long-term survival rate has reached 90%^[1]However, relapsed and refractory B-line acute lymphocytic leukemia (B-ALL) remains an important cause of childhood leukemia-related mortality^[2,3]。 Adult ALL has a low incidence but poor prognosis, with an overall 5-year survival rate of less than 40%^[4]The average survival time of relapsed patients was only 6 months^[5]。 Tumor-targeted immunotherapy represented by T cells modified by chimeric antigen receptor (CAR) has shown good targeting, killing and durability in vitro and clinical trials, demonstrating great application potential and development prospects. Among them, the great success of CAR-T cells targeting CD19 molecules (CD19 CAR-T) in the treatment of relapsed and refractory B-ALL is a milestone in this field^[6]。 After many achievements, its existing problems have gradually surfaced. In recent years, there have been endless reports of recurrence after treatment, and even cases of CD19 turning negative after treatment have appeared. This paper discusses the recurrence mechanism of this emerging immunotherapy.

Pulmonary hypertension is a kind of fatal cardiovascular disease, which causes pathophysiological changes of pulmonary vascular resistance and pulmonary artery pressure gradually increase due to the combined action of genetic, environmental factors and various etiologies. Among them, the first major type of pulmonary hypertension is also called arterial pulmonary hypertension (PAH), which can be further subdivided into idiopathic pulmonary hypertension (IPAH), hereditary pulmonary hypertension (HPAH), drug and poison-related pulmonary hypertension and other disease-related pulmonary hypertension^[1]。

Breast cancer is one of the most common malignant tumors in women, accounting for the first mortality rate of female malignant tumors^[1]。 Although the incidence of breast cancer has been increasing, due to the rapid progress in diagnosis and treatment in the past decade, the mortality rate related to breast cancer has been continuously declining^[2]。 Clinical treatment of breast cancer mainly includes surgery, radiotherapy, chemotherapy, targeted therapy and endocrine therapy. However, due to the widespread existence of drug resistance problems and the lack of effective biomarkers, the treatment of breast cancer is still not ideal. In the context of the precision era, tumor immune targeted therapy has gradually entered our field of vision, bringing earth-shaking changes to tumor treatment. The 2016 American Society of Clinical Oncology (ASCO) Annual Meeting rated tumor immunotherapy as the most important progress in tumor treatment, and tumor immunotherapy officially opened the road to the star of tumor treatment. In tumor immunotherapy, the therapeutic research related to programmed death receptor 1 (PD1) /programmed death ligand 1 (PD-L1) is in full swing in the field of tumor, and has become the focus of attention all over the world. The field of treatment of breast cancer has also emerged. In this paper, the application of the immune checkpoint PD1/PD-L1 pathway in breast cancer will be detailed.

Recently, I had the honor to read "Analysis of the efficacy of simultaneous revascularization in the treatment of severe stenosis of carotid and coronary arteries" published in the 24th issue of Chinese Medical Journal in 2015^[1]This article (hereinafter referred to as "this article") has benefited a lot, but I also feel that there are doubts about the Chinese translation and application of Charlson's Comorbidity Index (WIC) in this article, which is worthy of discussion.

The interpretation of comorbidities in modern Chinese dictionaries is indeed consistent with the author's description, but as a clinician, the understanding of "comorbidities" and "complications" is completely different: complications are a complex clinical medical concept. Scholars have the following definitions of complications: (1) Complications refer to the occurrence of another disease or symptom caused by one disease in the process of development, and the latter is the complication of the former. For example, peptic ulcer may have complications such as pyloric obstruction, gastric perforation or massive bleeding. (2) Complications refer to the combination of one disease and another or several diseases related to this disease in the process of diagnosis, treatment and care. Comorbidity refers to the combination of another disease or diseases under a special physiological condition or during the development of a disease, the latter disease is not caused by a special physiological condition or the former disease. Such as pregnancy complicated with essential hypertension, diabetes complicated with hepatitis B, etc. The difference between complications and comorbidities is whether there is a causal relationship between the two diseases before and after. What is causal is a complication, and what is not causal is a comorbidity. Therefore, according to the literal meaning of Charlson's weighted index of comorbidities (WIC), its comorbidities are close to the underlying disease; The specific translation is: Charlson's comorbidity weight index is more accurate. At present, the commonly used in the article is Charlson's comorbidity index or Charlson's index, with the same content and no obvious ambiguity.