2016年 · 第96卷第11期

Cushing's Disease (CD) was first described by Harvey Cushing in 1932. It is Cushing's syndrome caused by pituitary corticotropic hormone (ACTH) adenoma. The clinical manifestations are full moon face, buffalo back, hyperemia, purple skin lines, hypertension, diabetes and osteoporosis. Cushing's disease accounts for about 10% of pituitary adenomas, with an incidence of 1.2-2.4 million^－1· Years^－1It occurs in women between 25 and 45 years old. Although it is a rare disease, its diagnosis and treatment are relatively difficult. If the patient's high cortisol status cannot be controlled in time and effectively, the probability of multiple complications, such as mental abnormalities, pulmonary infections, thrombosis and cardiovascular and cerebrovascular accidents, will increase, and the natural life span will be significantly shortened. Before the 1950s, the survival time of patients with Cushing syndrome was only 4.6 years due to the lack of effective treatment^[1]。 Now, 60 years later, the standardized mortality rate of patients with Cushing's syndrome is still 1.7 to 4.8 times that of the normal population^[2,3]The mortality rate of patients with persistent or recurrent hypercortisolemia is significantly higher than that of the normal population^[4,5]It has brought a great impact on patients' health, marriage, family and society.

Cushing syndrome (CS), also known as hypercortisolism, is a syndrome with typical manifestations of centripetal obesity, hypertension, abnormal glucose metabolism, hypokalemia and osteoporosis caused by hypercortisolemia caused by various etiologies, acting on target organs. According to foreign literature reports, the annual incidence of CS is 2~3/10⁶with a prevalence of about 40/10^6[1,2]。 From the etiological classification, CS can be divided into adrenocorticotropic hormone (ACTH) -dependent and ACTH-independent. The former includes pituitary ACTH-secreting adenomas and ectopic ACTH-secreting tumors, accounting for 70%-80% of the etiological causes; The latter is caused by the spontaneous secretion of excessive cortisol by adrenal tumors (adenomas and adenocarcinomas) or hyperplasia, accounting for 20% to 30% of the etiology. Pituitary CS, also known as Cushing's disease (CD), is the most common cause of CS, accounting for about 70% of the total number of patients.

The 61-year-old male was admitted to the Department of Endocrinology of Peking Union Medical College Hospital on March 16, 2015 due to fatigue, anorexia for 9 months, polydipsia and polydipsia for 7 months. The patient experienced asthenia with anorexia without obvious trigger in June 2014. Polydipsia, polydipsia and polyuria occurred in August 2014. He drank about 6 L of water a day, and he needed to drink water at an interval of 40 min ~1 h between the days. The urine volume was equivalent day and night. In December 2014, the serum sodium was 127.9-134.7 mmol/L, the tumor markers were negative, and the total serum cortisol (8:00 am) was 31.8-59.8 μ g/L (normal reference value: 87.0-224.0 μ g/L); blood adrenocorticotropic hormone (ACTH) (8:00 am) 2.40 pmol/L (normal reference value: 0-10.13 pmol/L); Thyroid stimulating hormone (TSH) 0.11 mU/L (normal reference value: 0.34~4.00 mU/L), free thyroxine (FT₄) 7.0 pmol/L (normal reference value: 9.0-23.5 pmol/L), free triiodothyronine (FT₃) 2.6 pmol/L (normal reference value: 2.3-6.8 pmol/L); Luteinizing hormone (LH) 0.564 U/L, follicular estrogen (FSH) 0.309 U/L, testosterone 0.219 μ g/L, urine specific gravity 1.005-1.010, blood osmotic pressure 270-288 mOsm/kg H₂O; The erythrocyte sedimentation rate (ESR) was 31 mm/1 h, and the serum immunoglobulin G (IgG) was 65.60 g/L (normal reference value: 7.51-15.60 g/L). Chest CT scan showed no abnormalities in both lungs, and mass-like shadows were seen in the right posterior inferior mediastinum, with uniform density and no enhancement (FIG. 1A)。 MRI of the head and pituitary gland showed thickening of the nasopharyngeal soft tissue, slightly shifting of the pituitary stem to the right, local thickening and nodular shape, and disappearance of hypersignal in the posterior pituitary lobe (Figure 1C)。 No abnormalities were observed in bone puncture.¹⁸F-deoxyglucose (FDG) positron emission computed tomography showed: (1) right posterior mediastinal nodular shadow with uneven increase in FDG metabolism [maximum standard uptake value (SUV_max) 4.9], bilateral cervical, axillary, mediastinal, bilateral hilar, abdominal, retroperitoneal multiple lymph nodes (SUV_max3.7)； (2) Small nodules in the chiasmatic area of the suprasellar cistern, with slightly increased FDG metabolism and slightly thickened pituitary stem; (3) Inflammatory or physiological uptake of FDG in the right wall of nasopharynx. Nasopharyngeal soft tissue biopsy: (nasopharyngeal) mucosal chronic inflammation, bronchoscopy: no abnormality under microscope, (right lower lobe basal segment opening) no cancer cells found in smear; No metastatic carcinoma was found in concurrent biopsy of enlarged lymph nodes. He was diagnosed as "central diabetes insipidus, anterior hypopituitary function, lymphoma?", and was given prednisone 5 mg/time, 2 times/d orally, levothyroxine sodium tablets 50 μ g/time, 1 time/d orally, and desmopressin acetate tablets 0.1 mg/time, 2 times/d orally for replacement therapy. Water drinking and urine volume were reduced, and fatigue and anorexia were significantly relieved. Past history: Diagnosed with type 2 diabetes in December 2014, dietary control, no medication; Complete right bundle branch block, hyperlipidemia, fatty liver, hypertension, multiple polyps of the gallbladder, multiple gallbladder stones. Family history: Two older brothers died of lung and esophageal cancer, respectively, and the older sister suffered from diabetes.

Osteosarcoma is the most common among malignant bone tumors^[1,2], more common in children, more common in lower limbs, femoral metaphysis as the prevalent site^[3,4]。 Preoperative and postoperative chemotherapy plus extensive resection of surgical lesions were used clinically^[1]Amputation is mostly used, and now more than 80% of patients with osteosarcoma use limb-saving surgery^[2,5,6,7]and has become a routine treatment for malignant bone tumors of the limbs^[8,9]。 Limb-saving surgery can control the disease and improve the function of the affected limb to a considerable extent, and there is no significant difference in the survival rate between amputation and limb-saving surgery^[2]。 Current surgical methods include tumor prosthesis, bone cement reconstruction, epiphyseal traction, allogeneic bone inactivation and replantation^[10]Autologous fibula reconstruction, autologous tumor segment bone inactivation and replantation, etc. The cost of tumor prosthesis is high, and the prosthesis is infected and loosened after operation. It needs to be revised after long-term use, especially in children, with the possibility of multiple revisions. Allogeneic bone inactivation and replantation have adverse effects such as postoperative nonunion, fracture, infection and postoperative rejection^{[10,11,12,13]}At the same time, there is also transmission of blood diseases, etc^[14,15]。 Autologous bone inactivation is perfectly matched in immunology and anatomy, and reduces the economic burden of purchasing allogeneic bone for patients. If it can be fully inactivated and minimize the damage to tumor bone during inactivation treatment, it is of great significance for patients to recover limb function and prognosis as soon as possible after operation^[16]。 The commonly used methods of autologous bone inactivation include liquid nitrogen, high temperature boiling, absolute ethanol immersion, irradiation and in situ microwave inactivation^{[17,18,19,20,21,22]}Etc. In recent years, the application of hypertonic saline for autologous bone inactivation and replantation has unique advantages for bone healing after replantation because of its simple operation.

Amblyopia is the most common disease that causes visual impairment in children, with an incidence of 0.3% ~5%^[1,2,3,4]。 It simultaneously becomes one of the common vision impairments in adults due to its late detection or untimely treatment. Amblyopia was previously considered to be a disease with "normal ocular structure", but studies based on animal experiments and human visual electrophysiology have shown that^[5]Amblyopia will have a decline in visual cognition, as well as other effects of various visual functions. Abnormal microscopic anatomy was found in the retina, lateral geniculate body and visual cortex^[5,6,7,8,9]。 The widespread application of optical coherence tomography (OCT) makes intuitive quantitative measurement of retinal structure possible.

Autism spectrum disorder (ASD) is based on symptoms defined by behavior and is mainly divided into classical ASD and syndromic ASD. Usually referred to as autism generally refers to classical ASD, that is, behavior strictly conforms to the two core symptoms of ASD. According to the definition of the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), the latest diagnostic criteria for mental disorders issued by the American Mental Illness Association (APA), these two core categories of symptoms include: deficits in social communication and social interaction; A limited, repetitive behavior, interest, or activity. DSM-5 also no longer distinguishes between subtypes of autism (that is, it no longer lists classical autism, Asperger's syndrome and pervasive developmental disorders separately), but classifies ASD into three grades according to the different severity of the two types of symptoms, with the third grade being the most severe and the first grade being the least severe. A medical disease of known pathology or etiology (e.g. fragile X syndrome, Reye syndrome, tuberous sclerosis) with clinical manifestations of behavioral symptoms consistent with ASD, that is, so-called syndromic ASD, is particularly indicated by the presence of a known medical disease or genetic condition. According to the results of the ASD epidemiological survey released by the Centers for Disease Control and Prevention (CDC) in March 2014, the incidence of ASD in 8-year-old children has reached 1/68. At present, there is no large-scale formal ASD epidemiological survey data in China.