2015年 · 第95卷第34期

Time flies, and the passage of time can't erase the footprints of the strugglers. In 2015, the Chinese Medical Journal ushered in a beautiful moment of its 100th anniversary, which is also a common festival for Chinese medical workers. Since its founding for a hundred years, to this day, Chinese Medical Journal has been affirmed by the majority of medical workers and readers for its strong scientific nature, high authority, great influence and wide coverage, and has played an important role in promoting the development and exchange of medical academic work in China. Although the burn discipline started late, after more than 50 years of construction and development, it has now become one of the few international advanced medical disciplines in China, adding new highlights and features to Chinese Medical Journal.

With the widespread application of D-dimer in clinical practice, the standardization of D-dimer detection and the reliability of results have attracted great attention of clinicians. 2001 Respiratory Disease Branch of Chinese Medical Association published "Guidelines for Diagnosis and Treatment of Pulmonary Thromboembolism (Draft)"^[1]In 2010, the Pulmonary Vascular Disease Group of the Cardiovascular Disease Branch of the Chinese Medical Association and the Cardiovascular Physicians Branch of the Chinese Medical Doctors Association jointly published the Chinese Expert Consensus on the Diagnosis and Treatment of Acute Pulmonary Thromboembolism^[2]In 2013, the Expert Consensus Group on Emergency Clinical Application of D-Dimer Detection published the Expert Consensus on Emergency Clinical Application of D-Dimer Detection^[3]Clinicians strongly demand that laboratories provide accurate and comparable test data that meet clinical needs. Due to the lack of testing guidelines and standards, the expert consensus published by domestic academic organizations is not clear enough for the requirements of laboratory testing, and the quality improvement of clinical laboratories encounters many difficulties. Therefore, from 2013 to 2015, the Clinical Laboratory Center (NCCL) of the Ministry of Health put forward the basic requirements for D-dimer detection in clinical laboratories on the basis of referring to foreign standards, consulting literatures, conducting questionnaire surveys and physical testing surveys, and through the industry standard project research of the Legal Affairs Department of the National Health and Family Planning Commission. The present situation of D-dimer detection and the basic requirements of laboratory detection standardization are briefly described and discussed.

Hemophilia, as a congenital hereditary disease, is recognized for its sex-associated heredity, post-traumatic hemorrhage and special changes in the laboratory. The development of hemophilia diagnosis and treatment level well reflects the development course of medicine, science and technology and society; It has experienced the yesterday of facing death, the today of improving quality of life and the tomorrow of looking forward to freedom from the bonds of disease.

The situation of uremia prevention and treatment in China is grim. According to the national blood purification case information registration data, by the end of 2014, there were nearly 340,000 hemodialysis patients in China. However, according to the data of the national epidemiological survey, there are 120 million patients with chronic kidney disease (CKD) in China, including more than 19 million patients with stage 3 or above CKD^[1]110 million diabetic patients^[2]250 million hypertensive patients^[3]。 Therefore, with the continuous improvement of the national medical security system, the number of maintenance hemodialysis patients will continue to grow at a high speed, which will surely bring a huge economic burden. Under this background, how to improve the quality of life and survival rate of hemodialysis patients and obtain the optimal health economics has become an important content of common concern between the government and the majority of blood purification scholars. Since the promulgation of the Standard Operating Procedures for Blood Purification (2010 Edition) in 2010, the National Center for Medical Quality Management and Control of Nephrology has carried out nationwide medical quality control of hemodialysis. The results show that the overall treatment level of hemodialysis in China needs to be improved, especially the detection of hemodialysis adequacy and its compliance rate. Therefore, based on the results of evidence-based medicine, referring to relevant international guidelines, and on the basis of refining the part of dialysis adequacy in the Standard Operating Procedure for Blood Purification (2010 Edition), the clinical practice guidelines for hemodialysis adequacy in China are put forward. The aim is to base on the principle of practical feasibility and guiding clinical practice, give more targeted guidance to clinical front-line workers, and promote the improvement of hemodialysis adequacy in China.

The patient, a 69-year-old man, went to our hospital for more than 2 months because he found a mass at the root of his left thigh. Outpatient examination: a mass can be palpable at the root of his left thigh, about 3 cm ×2 cm ×2 cm in size, tough in texture, without skin redness, swelling, damage, no tenderness, can be pushed, and the boundary is clear. B-ultrasound showed that there was a 37 mm ×20 mm hypoechoic mass at the root of the left thigh with a clear boundary (Figure 1), was admitted to our hospital on October 20, 2014 with a mass at the root of his left thigh. Admission examination: body temperature 37.0 ℃ pulse 74 beats/min, breathing 16 beats/min, blood pressure 130/80 mmHg (1 mmHg =0.133 kPa). Deny the history of contact with infectious diseases such as hepatitis, tuberculosis, schistosomiasis and typhoid fever. Laboratory tests: normal liver and kidney function. On the morning of October 22, a mass resection of the root of the left thigh was performed under general anesthesia. During the operation, the mass was hard, clearly defined, about 5 cm ×4 cm ×3 cm in size, and the capsule was intact. Intraoperative rapid pathology: mucinous malignancy, type awaiting routine pathology. Gross examination of postoperative mass: The mass was spherical, 4.5 cm ×4.0 cm ×2.5 cm in size, with incomplete capsule, adipose tissue attached to the surface, brittle cut surface, 0.8 cm diameter cyst cavity formed in the center, and a large amount of mucus was seen in the capsule and on the surface of the mass (Figure 2)。 Microscopically, the tumor cells were polygonal, small round and short fusiform mixed, diffusely distributed, small blood vessels proliferated, the interstitium was a large mucus lake, a small amount of residual lymphoid tissue was seen at the edge of the tumor, and the sinus structure could be seen after careful search (Figure 3)。 The results of immunoenzyme labeling showed that Vimentin, S-100 and Melanoma were positive in tumor cells, Actin, Desmin, CD56, epithelial membrane antigen (EMA), Cytokeratin (Pan), leukocyte common antigen (LCA), Ewing's sarcoma marker (CD99), chromaphin A (CgA) and synaptophysin (SY) were negative in tumor cells (Figure 4)。 Pathological diagnosis: Left inguinal lymph node metastatic mucinous malignant melanoma, it is recommended to find the primary lesion in the ipsilateral lower limb clinically. After careful clinical search, multiple stains were seen on the skin on the lateral side of the left lower leg, one of which was a larger irregular stain with a size of 2 cm ×2 cm (Figure 5), after asking the medical history, the pigmentation was more than 20 years old, and it was significantly enlarged with repeated erosion and crusting 3 years ago, and then healed by itself. On November 28th, the lesion skin resection at the lateral pigmentation of the left calf was performed under local anesthesia. A large number of melanophagic cells and collagen fibers were seen in the dermis under the microscope, but no clear malignant tumor cells were found (Figure 6), suggesting that it may be a malignant melanoma with local degeneration. Combined with secondary pathological examination, this case was finally diagnosed as a rare metastatic mucinous malignant melanoma of left inguinal lymph node with primary regression.

A 28-year-old female developed fever without obvious trigger in January 2014, with a body temperature of up to 39 ℃, occasional cough, phlegm difficult to cough up, accompanied by obvious dry eyes and dry mouth, no chills, weight loss, night sweats, no frequent urination, urgency, abdominal pain, diarrhea and other discomfort. She went to a hospital, and blood routine showed white blood cells 12.36×10⁹/L, hemoglobin 114 g/L, platelets 254×10⁹/L, and was treated with azithromycin, gaticarcin and cephalosporin antibiotics for more than 40 days, and his body temperature gradually dropped to normal. On February 28, 2014, he had fever again, with a maximum body temperature of 40.3℃, occasional cough and expectoration, no chills, night sweats, and joint pain all over the body, including knee joint, accompanied by swelling and pain of lymph nodes on the right neck, without rash, hair loss and other discomfort. Perfect examination showed that white blood cells were 2.6×10⁹/L, hemoglobin 83 g/L, platelets 52×10⁹/L, biochemistry showed alanine aminotransferase (ALT) 122 U/L, aspartate aminotransferase (AST) 55 U/L, glutamyl transferase (GGT) 139 U/L, triglyceride 2.23 mmol/L, fibrinogen 0.62 g/L, immunoglobulin G 18.70 g/L, erythrocyte sedimentation rate 30 mm/1 h, rheumatoid factor 22.6 kU/L. Immune correlation examination showed positive anti-nuclear antibody by indirect immunofluorescence (+) 1:320 (spot), anti-SSA antibody by immunospot (+), and negative remaining antibodies. Abdominal B-ultrasound showed splenomegaly. Perfect bone marrow cytology shows infected bone marrow images. Right cervical lymph node biopsy revealed lymph node reactive hyperplasia with atypical T-zone hyperplasia. During this period, penicillin + piperacillin tazobactam sodium, imipenem cilastatin sodium + teicoplanin were given to fight infection, but the effect was not good. The patient still had intermittent fever, and the three lines progressively declined. Further examination of serum ferritin 4 033 μ g/L, natural killer cell activity significantly decreased to 9%, soluble interleukin 2 receptor 41 394 ng/L, labial gland biopsy: partial acinar atrophy, interstitial scattered and focal lymphocyte infiltration (focal lymphocytes>50), small duct hyperplasia with dilatation (Figure 1)。 According to relevant diagnostic criteria^[1]Hemophagocytic lymphohistiocytosis (HLH) and Sjogren's syndrome (SS) were definately diagnosed. The patient was screened for HLH-related gene mutations by high-throughput (second-generation sequencing) sequencing method. The results showed that the deletion of the coding sequence of the 32nd exon of UNCl3D gene resulted in frameshift mutation (c.3229_3235del) and deletion of the corresponding amino acid (p.1077_1079del), which was verified by polymerase chain reaction combined with direct sequencing (Figure 2)。 After the patient was diagnosed with HLH and SS, he was given intravenous etoposide 100 mg and methylprednisolone to control inflammatory factor storm on March 20 and March 27, 2014, respectively. At the same time, he was given methotrexate 7.5 mg once a week and folic acid 5 mg 3 times a day to treat SS, supplemented by symptomatic supportive treatment. The condition was gradually under control. After discharge, the patient continued to take low-dose methylprednisolone and methotrexate for maintenance therapy. Follow-up until October 2014, the patient's condition remained stable.

Fibroblast growth factor 23 (FGF-23), a member of the family of hormonal fibroblast growth factors, is a 251 amino acid glycoprotein with a relative molecular mass of approximately 32,000. The FGF-23 gene is mapped to chromosome 12 and was originally discovered by gene mapping cloning in autosomal dominant rickets with hypophosphatemia^[1]。 The main physiological role of FGF-23 is to regulate mineral metabolism. In recent years, animal and clinical studies^[2,3]It was found that FGF-23 was closely related to the occurrence and development of cardiovascular diseases. Therefore, the correlation between FGF-23 and cardiovascular diseases has become a hot topic of attention. This article will review the research progress of FGF-23 and cardiovascular diseases.

Chronic altitude sickness (CMS) refers to the clinical syndrome with excessive increase of red blood cells as the main symptom of gradual loss of habit to the low oxygen environment of the plateau in people who have lived on the plateau for a long time or settlers who have lived at an altitude above 2 500 m. The Qinghai standard formulated by the Sixth International Congress of Plateau Medicine in 2004 is: in the absence of chronic lung disease and other causes of erythrocytosis, the hemoglobin concentration of male ≥210 g/L and female ≥190 g/L, and accompanied by three or more of the following symptoms: shortness of breath, palpitation, sleep disorder, cyanosis, headache, tinnitus and paresthesia, etc^[1]。 A large number of CMS cases show that arterial hypoxemia will gradually aggravate over time, eventually leading to various serious diseases such as microcirculation disorders, pulmonary hypertension, sleep breathing disorders and pulmonary heart disease^[2,3,4]。