2016年 · 第96卷第22期

Integration is the characteristic of the development of the times, and it is also a magic weapon to solve epoch-making problems. Medicine has experienced rapid development for thousands of years, especially in recent decades, and has made great contributions to human health. However, with the changes of nature, society and environment and mankind's pursuit of survival, longevity and health, coupled with the detailed planning and refinement of specialties, the fragmentation of medical knowledge has a double-edged sword impact on the development of medicine, and medicine has also encountered unprecedented problems. As medical historian Roy Porter wrote in Cambridge History of Medicine in 2000: "In the Western world, people have never lived so long or so healthy, and medicine has never been so successful, but paradoxically, medicine has never attracted more intense suspicion and dissatisfaction than it is today." Human beings must review and summarize the history of medical development, and at the same time put forward the direction and road of future medical development. Therefore, the concept and practice of Holistic Integrative Medicine (HIM) came into being^[1]。

Patients with advanced breast cancer (ABC) have their own particularities in the choice of treatment options and efficacy, and there is still a lack of recognized standard treatment options. How to help patients make correct treatment choices is the challenge faced by every oncologist. The overall median survival of patients with advanced breast cancer is 2 to 3 years, and the situation varies between molecular subtypes. For patients with human epidermal growth factor receptor 2 (HER2) -positive advanced breast cancer, anti-HER2 therapy altered the natural course of HER2-positive breast cancer and significantly prolonged survival; However, for patients with triple-negative advanced breast cancer, the overall prognosis has not improved significantly; In addition, for the most common hormone receptor (HR) -positive advanced breast cancer patients, a variety of therapeutic drugs have been added in recent years, such as fulvestrant, CDK4/6 inhibitors, etc.^[1,2]。 In 2016, under the advocacy of the Breast Cancer Professional Committee of China Anti-Cancer Association, domestic experts in breast cancer pathology and imaging diagnosis and treatment analyzed, summarized and discussed the research data of advanced breast cancer treatment at home and abroad. After repeated discussions and many revisions, the "Chinese Expert Consensus on Clinical Diagnosis and Treatment of Advanced Breast Cancer 2016" was formulated. It should be emphasized that this consensus is a diagnosis and treatment recommendation for application in China, and each region may need to make necessary adjustments according to the basic principles of modern oncology, that is, multidisciplinary and individualized comprehensive treatment based on the particularity of advanced disease and the individual differences of each patient.

glutaric aciduria type Ⅰ (GAⅠ) is a rare autosomal recessive disease^[1]It is an organic acid metabolism abnormality disease caused by a pathogenic mutation of a gene encoding glutaryl-CoA dehydrogenase (GCDH) localized on chromosome 19, resulting in a change in its activity. More than 200 types of gene mutations have been reported^[2]。 The incidence of glutaric acidemia is about 1/100,000 reported in foreign literature^[3]Domestic studies have reported that the incidence of GAⅠ is 1/64 708^[4]。 The clinical manifestations of glutaric acidemia are obviously heterogeneous^[5]Which are characterized by macrocephaly, brain atrophy, and acute dystonia secondary to striatal degeneration just after birth or shortly after birth. Macrocephaly is its earliest clinical symptom^[6]。 The disease can be treated with a protein-restricted diet, vitamin B12 supplementation, and carnitine supplementation. Most patients can improve their clinical symptoms to varying degrees after treatment. In this study, the gene mutation of GCDH gene was detected in 3 patients with glutaric acidemia who attended the prenatal diagnosis center of our hospital, which is reported below.

A 56-year-old male was admitted to the hospital mainly because of "cyanosis of extremities exposed to cold for 14 years, splenomegaly for 8 years and bone pain for 20 days". Since 1998, the patient has developed cyanosis of fingers, nose tips and earlobes when exposed to cold. Multiple examinations in other hospitals revealed "mild anemia", which was not treated. In 2004, splenomegaly was accidentally discovered, without fever, night sweats, rash, weight loss and other discomfort. B-ultrasound examination in another hospital showed "moderate spleen enlargement", positive anti-human globulin test (Coombs test) (+), negative autoantibody (-), and no special treatment was given. At the end of 2011, the patient intermittently experienced abdominal fullness and dull pain in the left abdomen, and the spleen showed an increasing trend when monitored by abdominal ultrasound. In mid-to-late October 2012, the patient developed pain at the shoulder end of the left clavicle without obvious trigger, which was persistent, with limited uplift and abduction of the upper limb, accompanied by night sweats, and no fear of cold, fever, weight loss, fatigue and other discomfort. Visited the outpatient clinic of our hospital, and routine blood test: white blood cell count (WBC) 12.2×10⁹/L, neutrophil percentage (NEUT%) 0.404, lymphocyte percentage (LY%) 0.544, hemoglobin (HGB) 92 g/L, mean erythrocyte volume (MCV) 93.9 fl, mean erythrocyte hemoglobin content (MCH) 29.5 pg, platelets (PLT) 143×10⁹/L; Reticulocyte percentage (RET%) 0.035. Fecal routine + occult blood normal. Liver function: total bilirubin (TBil) 33.8 μ mol/L, direct bilirubin (DBil) 9.0 μ mol/L, alanine aminotransferase (ALT) 45 U/L, lactate dehydrogenase (LDH) 517 U/L. Blood smear: red blood cells gathered in piles, no broken red blood cells were seen. Income ward for further treatment. Past History: Past physical fitness. Personal history: denial of picky eating, denial of smoking, drinking, exposure to toxic drugs and radioactive materials, denial of blood transfusion history. The history of marriage and childbirth and family history are no different.

pulmonary hypertension includes five categories: pulmonary arterial hypertension (PAH), pulmonary hypertension associated with left heart disease, pulmonary hypertension associated with pulmonary disease or hypoxia, chronic thromboembolic pulmonary hypertension (CTEPH) and pulmonary hypertension with unknown mechanism. Various types of pulmonary hypertension are treated with different methods. For example, for disease-related pulmonary hypertension, the primary disease is mainly treated, and pulmonary thromboendarterectomy is the first choice for CTEPH. For PAH, due to the deepening understanding of its pathogenesis, a series of drugs targeting different mechanisms of action have been developed. Therefore, the treatment of PAH has changed greatly in the past decade, with increasing therapeutic drugs and complicated treatment options. 2015 European Society of Cardiology/European Society of Respiratory Diseases (ESC/ERS) Guidelines for the Diagnosis and Treatment of Pulmonary Hypertension^[1]The treatment strategy of PAH is recommended in detail in, and the treatment of PAH is now interpreted as follows.

With the deepening of research on the pathogenesis of pulmonary hypertension (PH), various new targeted drugs emerge one after another, and the quality of life and 5-year survival rate of PH patients are significantly improved. New drugs also raise some questions for clinicians that must be faced directly: how to evaluate the patient's condition and rationally use new targeted drugs? The 2015 European Society of Cardiology/European Society of Respiration (ESC/ERS) Guidelines for the Diagnosis and Treatment of Pulmonary Hypertension specifically addressed the above issues^[1]。 Combined with domestic clinical practice, the relevant contents are expounded from the angles of clinical evaluation, clinical follow-up opportunity and strategy. Because the results of relevant studies are mainly derived from arterial PH (PAH), the contents described above are mainly applicable to patients with PAH.

Pulmonary hypertension (PH) is a disease or pathophysiological syndrome in which pulmonary artery pressure is abnormally elevated due to known or unknown causes^[1]It can be derived from pulmonary vascular disease itself or secondary to other cardiopulmonary diseases. The etiology is wide, the early clinical manifestations lack specificity, and the diagnosis is difficult. The improvement of pathology and etiology identification technology has promoted the clinical diagnosis level of PH. The European Society of Cardiology/European Society of Respiratory Diseases (ESC/ERS) published the latest edition of the Diagnostic and Treatment Guidelines for Pulmonary Hypertension in August 2015^[2], and addresses the updated diagnostic process in a separate section. Brand-new screening strategies are presented in the web appendix. The diagnosis of PH requires comprehensive evaluation and discussion by experts in cardiovascular, respiratory, rheumatic immune, imaging and other disciplines. Especially for patients with complex etiology, early referral, communication between multidisciplinary experts and collaborative diagnosis and treatment are more important.

The diagnosis and treatment of pulmonary hypertension is relatively complex, often involving multiple disciplines, and has become an international medical and health care problem. Improving the awareness of prevention and treatment of pulmonary hypertension, standardizing its diagnosis and treatment methods, and strengthening the basic and clinical research of pulmonary hypertension are the key points to improve its diagnosis and treatment level. The European Society of Cardiology/European Society of Respiratory Diseases (ESC/ERS) published a new edition of the Diagnostic and Treatment Guidelines for Pulmonary Hypertension at the end of August 2015^[1]This paper introduces the cutting-edge knowledge of epidemiology and genetics, and summarizes this part briefly.

2005 Volpe^[1]The concept of premature infant encephalopathy (EOP) was put forward to summarize the injuries of white matter, gray matter, ventricles and other parts of the brain caused by various inducements and the clinical manifestations after various injuries, as well as the neurological sequelae such as cerebral palsy, mental retardation and epilepsy in premature infants. Paraventricular leukomalacia (PVL) is the most severe form of brain injury in premature infants and an important factor in cerebral palsy^[2]The reduction of brain tissue caused by PVL may further lead to enlargement of ventricles and subarachnoid space, gray matter lesions, gyral dysplasia, etc^[3]。 Past research has shown^[4]Hypoxia and prenatal infection are the main risk factors of premature infant encephalopathy, but recent studies have found that postnatal infection/inflammation of premature infants is also closely related to premature infant encephalopathy, which is considered as one of the important causes of premature infant encephalopathy, which has attracted great attention of scholars. This article reviews the research progress on the correlation between postnatal infection/inflammation and brain injury in premature infants.