MedNexus
2018年 · 第98卷第28期
MedNexus
- 全部
- 专家论坛
- 标准与规范
- 临床研究
- 基础研究
- 疑难病例析评
- 病例报告
- 综述
With the rapid development of medical science and technology and the continuous renewal of health concept, the focus of people's attention in the process of diagnosing and treating diseases and maintaining health gradually shifts from whether the disease is cured to the feeling brought by the disease treatment process and the quality of life after recovery. Practice has proved that the transformation of medical quality and the improvement of teaching quality cannot be achieved through extensive expansion, but it needs to change the traditional teaching concept and realize it through technological innovation. It is under this background that the concept of accelerated rehabilitation surgery came into being as the times require, and was quickly promoted by some countries in Europe and America, especially in Europe. In our country, due to the accelerated application of rehabilitation surgery, it has brought great influence on the improvement of teaching and medical service quality, and it has been more and more accepted by the medical staff[
Von Hippel-Lindau disease, abbreviated as VHL disease, also known as Hippel-Lindau syndrome and Lindau syndrome, isVHLAn autosomal dominant disease caused by mutations in tumor suppressor genes (OMIM 193300). The patient presented with multiple organ tumor syndrome, including lesions such as central nervous system hemangioblastoma, retinal hemangioblastoma, renal cancer or renal cyst, pancreatic tumor or cyst, adrenal pheochromocytoma, inner ear lymphatic sac tumor, and reproductive system cysts[
The development of cellular and molecular genetics has promoted the development of human genetic research. The practicality and value of clinical gene detection have been widely accepted. The development of genomics and other omics and high-throughput sequencing technology have greatly promoted the ability of gene detection and analysis. However, the human genome contains a lot of private information about the human body. Using currently available analytical techniques, combined with the detection of specific genotypes and karyotypes, individuals can be reversely identified. In addition, traditional molecular genetics provides specific limited information. Genomic sequencing involves thousands of DNA markers. During the detection, abnormalities or changes in genetic information outside the target disease are often found, that is, accidental discovery; At present, the ability to interpret genetic information is extremely limited, and the relationship between most genetic variations and phenotypes is still unclear. Therefore, molecular genetics in the genome era not only faces serious challenges to personal privacy, group information and data security, but also faces some important management, legal and ethical issues, such as the handling of remaining samples, procedures and requirements before genetic testing, especially the qualification and ability requirements of genetic testing and genetic abnormality interpretation and interpretation personnel, the difficulty of disclosure of accidental discovery, etc[
Iron deficiency (ID) and Iron deficiency anemia (IDA) are important health problems affecting countries around the world, affecting about 2 billion people[
The 47-year-old female was admitted to the Department of Endocrinology of Peking Union Medical College Hospital in June 2017 due to "polyuria and polydipsia for 10 months, fatigue, anorexia and loss of sexual desire for 8 months". The patient developed polyuria, polydipsia, polydipsia without obvious trigger 10 months ago, liked cold drinks, had a daily urine output of 5~6 L, clear urine color, nocturia increased to 2 times, and the urine output was equivalent day and night. The longest persistence was 2 hours without drinking water, which was not paid attention to. Eight months ago, weakness of both lower limbs, anorexia, fear of cold, laziness, loss of sexual desire and pubic hair loss gradually appeared. Visited the local hospital, serum potassium was 3.87 mmol/L, serum sodium was 154 mmol/L, and creatinine was 198 μ mol/L. Positive desmopressin test. Enhanced magnetic resonance imaging (MRI) of the head: suprasellar pituitary stalk running area nodule, considering pituitary stalk origin, benign may be large. Thyroid function: free triiodothyronine (FT3) 2.96 pmol/L (reference value: 3.1-6.8 pmol/L), free tetraiodothyronine (FT4) 8.3 pmol/L (reference: 12-22 pmol/L), and thyroid stimulating hormone (TSH) 2.61 mU/L (reference: 0.27-4.20 mU/L). Blood cortisol8:00204.2 nmol/L (reference value: 115.9-1 059.8 nmol/L). Consider "central diabetes insipidus; pituitary stalk occupation, possible lymphocytic hypophysitis; secondary hypothyroidism". 50 μ g desmopressin acetate tablets (coagulation) were administered orally, once before bedtime; Levothyroxine sodium tablets 12.5 μ g orally, once a day as replacement therapy. The symptoms of self-conscious polydipsia and polyuria were not significantly relieved, so we went to our hospital for further diagnosis and treatment. Deny headache, nausea, vomiting, loss of vision, deny fever, rash, joint swelling and pain, deny chest pain, dyspnea, deny bone pain, history of fracture. During the course of the disease, the spirit and sleep are good, the stool is once every 1 to 2 days, and the weight has lost 4 kg in the past six months. Past history: Right breast fibroadenoma resection was performed in 2016. Menstrual history: Menarche at the age of 15, regular menstruation, menopause at the age of 46. Personal history and family history are no different.
A 77-year-old female was admitted to the Department of Oncology Surgery of Jiaxing No.1 Hospital on June 8, 2012 due to "upper abdominal discomfort for more than 2 months". On May 5, 2012, the patient went to an external hospital for "upper abdominal discomfort". Abdominal CT showed that a mass was seen on the outside of the great curvature of the stomach. First, gastric malignant stromal tumor was considered, and histological examination was recommended. Gastroscopy suggests that the stomach occupies space. Pathology: Malignant tumor of the stomach body, poorly differentiated carcinoma is likely, and immunohistochemistry is recommended for further diagnosis. For further diagnosis and treatment, we came to our hospital, and no obvious abnormalities were found in the physical examination and laboratory examination. Previous hypertension for more than 10 years, self-stated oral antihypertensive drugs can be controlled.
Neuroendocrine tumors of bile duct can be divided into highly differentiated neuroendocrine tumors (NET, also divided into G1, G2, G3 stages), differentiated neuroendocrine carcinomas (NEC, large-cell and small-cell), and mixed gonadal-neuroendocrine carcinomas (MANEC) with both adenocarcinoma and neuroendocrine tumor components according to the degree of differentiation. Rare types include goblet cell carcinoid, tubular carcinoid, etc[
Lymphoma is one of the common malignant tumors. According to the China Cancer Registry Annual Report, the incidence rate of lymphoma in China from 2003 to 2013 was about 5/100,000, of which Hodgkin's lymphoma (HL) accounted for about 10%[
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