2015年 · 第54卷第01期

Rare diseases refer to those extremely rare diseases with an incidence rate of one in ten thousand or even one in a million. International Rare Disease Day (Rare Disease Day) was initiated by the European Organization for Rare Diseases (EURORDIS) on 29 February 2008. This quadrennial Day means the "rarity" of Rare diseases. The Ice Bucket Challenge made more aware of the rare disease known as ALS, Amyotrophic Lateral Sclerosis. However, there are still some rare diseases that are not yet recognized by people. Even if the incidence rate is one in a thousand or one in ten thousand, in China, which has a population of 1.3 billion, due to its large population base, the number of people suffering from tens of thousands, hundreds of thousands and millions of rare/rare diseases is also a considerable number. Because of insufficient understanding of such diseases, they are often misdiagnosed and mistreated, which brings pain and misfortune to patients and families, and increases the burden on society. With the development of modern medicine and the continuous improvement of medical diagnosis and examination technology, especially the improvement of the understanding of the pathogenesis of disease spectrum and the related hormone determination, highly selective imaging examination, genetics and epigenetics research, people's understanding of rare diseases has been significantly improved, and they realize that some diseases that were once considered rare are actually failed to make a correct diagnosis due to failure to recognize and effectively detect them. Therefore, the prevalence of some rare diseases has been revised.

Iodine is an essential trace element for the synthesis of thyroid hormones, which are essential for normal brain development. During pregnancy, iodine deficiency leads to a deficiency of maternal thyroid hormones, which can have an irreversible negative effect on the neuro-intellectual development of the offspring, which gradually aggravates with the severity of the iodine deficiency. Iodine deficiency is the leading cause of brain damage and mental retardation, and it is also a preventable cause. The universal salt iodization (USI) strategy is the most practical method to prevent and treat iodine deficiency disorders. At present, there are many countries in the world that implement USI, and China is one of them. After the implementation of USI, the iodine intake of Chinese residents has increased significantly, and it has been in the state of excessive iodine and moderate iodine for many years [median urine iodine (MUI) 100~299 μ g/L]^[1,2]。 Nevertheless, according to the WHO recommended iodine nutritional criteria for pregnant women (MUI 150~249 μ g/L)^[3]In China, about 50% of pregnant women are still in different degrees of iodine deficiency. According to the requirements of domestic and foreign guidelines, all pregnant and breastfeeding women should be given an additional 150 μ g of potassium iodide per day on the basis of diet to achieve the target of 250 μ g of iodine intake per day^[4,5]。 However, the above view is still lack of evidence-based medical evidence.

Connective tissue disease (CTD) -related pulmonary hypertension (PAH) has become a challenge that rheumatologists must face^[1]。 Although the prevalence of PAH in CTD is not high, and it is even called a rare organ injury, PAH is one of the important causes of death in CTD patients, and has been paid more and more attention by the rheumatology community. Taking systemic lupus erythematosus (SLE) -related PAH as an example, its prevalence was only 3.8% in the registered study of the Chinese Collaborative Group for Systemic Lupus Erythematosus Research (CSTAR), which was far lower than lupus nephritis (47.4%), SLE joint involvement (54.5%), SLE blood system involvement (56.1%), and even lower than neuropsychiatric lupus (4.8%)^[2]； However, Peking Union Medical College Hospital has analyzed the cause of death of SLE for nearly 30 years and found that SLE-related PAH is the third cause of death after neuropsychiatric lupus and lupus nephritis^[3]。 Similarly, the prevalence of PAH associated with systemic sclerosis (SSc) was 20.2% in the Chinese registered study, which was also much lower than that of pulmonary interstitial fibrosis (58.8%), gastroesophageal reflux (56.3%), and finger ulcer (31.1%) caused by SSc^[4]。 However, the mortality rate of SSC-related PAH without pulmonary interstitial fibrosis increased significantly (20% to 30%)^[5]。 In addition, primary Sjogren's syndrome, mixed connective tissue disease, dermatomyositis, rheumatoid arthritis, primary biliary cirrhosis, and systemic vasculitis can all involve pulmonary blood vessels and lead to PAH. So, how to achieve early diagnosis of CTD-related PAH? How can the condition of CTD-related PAH be more fully assessed? How to develop a more precise treatment plan for CTD-related PAH? The National Rheumatology Data Center and CSTAR organized domestic rheumatology, cardiology, respiratory, imaging and other multidisciplinary experts to formulate the "Consensus on the Diagnosis and Treatment of Pulmonary Hypertension Related to Systemic Lupus Erythematosus in Adults in China" based on international and Chinese clinical diagnosis and treatment experience and evidence.^[6](hereinafter referred to as the consensus), aiming to gradually solve the above problems and improve the prognosis of patients by establishing a referral center for CTD-related PAH with standardized diagnosis and treatment capability.

A common pathway to prevent cardiovascular disease is to identify individuals at high risk for cardiovascular events and correctly determine whether they require intensive lifestyle interventions and/or pharmacological interventions. The National Cholesterol Education Program (ATP) expert group developed guidelines for cardiovascular disease prevention, which were later passed on by the American College of Cardiology/American Heart Association (ACC/AHA) expert group and the European Society of Cardiology (ESC). The ATP Adult Treatment Program III (ATP-III) guidelines are only based on a 10-year coronary heart disease risk model.

Polycystic ovary syndrome (PCOS) is a syndrome with thin ovulation or anovulation, infertility and obesity as the main manifestations. Rotterdam PCOS Conference^[1]The proposed ultrasound diagnostic criteria for polycystic ovarian changes (PCO) in PCOS are: unilateral or bilateral ovaries containing 12 or more follicles with a diameter of 2 to 9 mm and/or ovarian volume ≥10 ml. Transvaginal ultrasonography (TVUS) is used in the diagnosis of PCOS; However, TVUS is not applicable to PCOS patients who are unmarried (no sexual history) women. This study mainly discussed the application of MRI in the diagnosis of PCOS in unmarried women.

Vitamin D deficiency is closely related to a variety of chronic metabolic diseases including tumors, autoimmune diseases, diabetes, cardiovascular diseases, etc^[1]； Several studies have also shown that vitamin D has an important impact on the prognosis of cancer patients^[2]。 Linzhou (formerly Lin County) is one of the highest incidence areas of esophageal cancer in the world^[3]Some residents in its northern region migrated to Changzhi area of Shanxi Province 113 years ago, and now they have formed a relatively concentrated natural immigrant village. More than 98% of them are descendants of Linzhou people. Their living environment and eating habits have changed greatly with Linzhou area, but are similar to the local situation in Changzhi, Shanxi Province. In this study, the plasma levels of vitamin D were detected by ELISA in five groups: patients with esophageal squamous cell carcinoma in Linzhou, Henan, healthy people in Linzhou, Shanxi, healthy people in Changzhi, Shanxi, and healthy people in Linzhou, Changzhi. The purpose of this study was to investigate the relationship between plasma vitamin D level and the occurrence of esophageal squamous cell carcinoma.

A 59-year-old female was admitted to hospital due to intermittent dizziness, headache and nausea for 10 years, increased hair and low voice for half a year. The patient had dizziness, headache and nausea without obvious trigger 10 years ago. The blood pressure was measured (140~150) / (80~90) mmHg (1 mmHg =0.133 kPa), and the blood pressure could be controlled at about 120/70 mmHg by monotherapy. In the past 1 year, blood pressure has increased progressively, and dizziness, palpitations, nausea, limb fibrillation, coldness and fear have occurred intermittently. The combined treatment of multiple antihypertensive drugs still has poor blood pressure control, and atrial fibrillation has occurred, which has not been systematically diagnosed and treated. Six months ago, the patient developed beard around the lips, protruding Adam's apple, and low voice, which gradually aggravated. Five days ago, local abdominal enhanced MRI found that the left adrenal gland occupied a huge space, so he came to our hospital for treatment. Since the onset of the disease, the patient's mental appetite is good, his defecation is normal, and his weight has gained more than 10 kg in the past six months. Past physical fitness. He has 2 daughters and 1 son, who is menopausal at the age of 51. The father, brother and second daughter in the family all suffer from hypertension.

The patient was a male, 68 years old, retired. The right chest mass was found for more than 2 months and was admitted to hospital in March 2014. The patient went to the local hospital due to repeated early morning disorder of consciousness more than 2 months ago. At the time of the attack, he was unconscious, had no convulsions and incontinence, and had no sweating. The lowest blood glucose was 1.3 mmol/L. After intravenous glucose was given, the symptoms were relieved, and he was diagnosed as hypoglycemic coma. There were no obvious abnormalities in blood biochemical indexes of liver and kidney function and blood lipids; Blood routine showed hemoglobin 116 g/L, and the rest was roughly normal; No abnormalities were observed in cortisol rhythm and adrenocorticotropic hormone (ACTH); Normal thyroid function, blood glucose<At 2.8 mmol/L, the blood insulin level was 0.2 mU/L (normal reference value 5.0~25.0 mU/L), which was significantly lower than normal. Pancreatic CT scan showed no obvious abnormalities. X-ray chest radiograph showed space-occupying lesions in the middle and lower fields of the right lung; Enhanced CT of the chest: right mediastinum occupying space, less fatty teratoma? Neurogenic tumor? Radionuclide scan: A large area of increased radionuclide metabolism was seen in the right upper lung field. Therapeutically, the patient was given additional meals at night, and there was no recurrent hypoglycemic coma. The patient came to the thoracic surgery department of our hospital for surgical treatment of thoracic mass. Physical examination: normal development, good nutrition, solid knock sound in the right lower lung, weakened breathing sound, no dry and wet rales in both lungs. The patient has lost 5 kg of weight since the onset of the disease. Blood glucose was monitored before surgery. Blood glucose was monitored at night, early in the morning and before meals for several times below 2.8 mmol/L, with a minimum of 1.5 mmol/L, unconscious, and blood glucose could rise to normal after oral and intravenous glucose administration. Preoperative chest CT revealed a huge soft tissue density mass in the right chest cavity, with a size of 99 mm ×133 mm ×172 mm. The right main bronchus and branches were compressed and narrowed, and the mediastinal structure showed compression changes (Figure 1)。 On the 7th day of admission, the right thoracic mass resection was performed under general anesthesia, and the operation was successful. Fingertip blood glucose fluctuated from 7.4 to 9.6 mmol/L on the 3rd postoperative day without intravenous glucose rehydration, and no hypoglycemia occurred thereafter. The patient improved and was discharged.

Example1The patient was a 35-year-old female. Due to repeated redness, swelling and pain in both fingers for more than 3 months, accompanied by pain in the left upper limb for 2 days, he was seen in Dongguan Hospital of Traditional Chinese Medicine on March 31, 2013. Rheumatoid factor (RF) was 65.2 IU/ml, C-reactive protein (CRP) was 61.134 mg/L, and the B-ultrasound of the left upper limb blood vessels showed thrombosis in the distal segment of the left brachial artery and lumen occlusion. Angiography showed that the distal end of the left brachial artery extended to the proximal end of the radial artery and ulnar artery was occluded, and the maximum length of the occluded segment was about 7 cm. Cardiac color ultrasound showed mild mitral regurgitation. HBsAg positive. There were no abnormalities in the antinuclear antibody profile. Diagnosis: polyarteritis nodosa. The patient was treated with methylprednisolone (40 mg/d, once/d) and cyclophosphamide (0.2 g, once every other day, a total of 1.4 g). By April 17th, the patient began to develop high fever, headache, right angle of mouth, and left limb hemiplegia. CT examination of the head considered infarction in the right basal ganglia area. MRI of the head revealed multiple recent cerebral infarctions. Blood culture: Gram positive (G^＋) bacillary infection. Cefuroxime sodium (1.5 g, twice/d) was treated for 7 days, and methylprednisolone (1 000 mg/d, once/d) was pulsed for 3 days. After normal body temperature, he was transferred to the neurosurgery department of our hospital on April 22 for further treatment. Physical examination at admission: body temperature 36.5℃, pulse 80 beats/min, breathing 20 beats/min, blood pressure 110/70 mmHg (1 mmHg =0.133 kPa); The mind is clear, the answer is pertinent, and the left nasolabial fold becomes shallow; A systolic grade 3/6 blow-like murmur was heard in the mitral auscultation area; The tongue was left deviated, the muscle strength of the right upper limb and lower limb was normal, the muscle strength of the left upper limb was grade 2, the muscle strength of the left lower limb was grade 4, the left Hoffmann sign, Rossolimo sign and Chaddock sign were positive, and the right ankle clonus and patellar clonus were positive. On April 28th, the MRI of the head was examined: right radiation corona, basal ganglia area, and island-like abnormal signal area. Hemorrhagic cerebral infarction and right middle cerebral artery occlusion were considered.

In the past years, people first knew gout from the redness, swelling, heat and pain of the joints. Gout often manifests in its early stages only as intermittent episodes of acute arthritis. Monoarticular involvement was predominant, with the first metatarsophalangeal joint (MTP1) being the most common. Joint swelling and pain usually last for about 7 days, which can be relieved spontaneously or by medication, and there are no symptoms during the intermittent period. With the progression of gout, the number of acute inflammatory attacks and the number of joints involved gradually increased, and joint symptoms began to appear in the intermittent period. Some patients may have nodules around the joints or in the skin and soft tissues, that is, tophi formation, and severe patients may have joint damage or even disability. Patients with renal involvement may have kidney stones, chronic kidney injury and other manifestations, which may eventually develop into chronic kidney failure.

Meticillin-resistant Staphylococcus aureusStaphylococcus aureusMRSA) is extremely difficult for clinicians because of its high resistance to antibiotics and the complexity of its diagnosis and treatment. Since its discovery, it has become one of the important pathogens of nosocomial infections in the world. According to the data of China Bacterial Resistance Surveillance (CHINET) in 2013, Staphylococcus aureus accounted for 9.61% of the total isolated strains, among which the average detection rate of MRSA in Staphylococcus aureus was 45.2%, and the hospitals with the highest MRSA isolation rate reached 72.0%^[1]。 A recent foreign epidemiological study on MRSA shows that pneumonia accounts for 70.45% of MRSA infectious diseases and is the most common type of infection^[2]。 It is estimated that MRSA accounts for 20% to 40% of all hospital-acquired pneumonia (HAP) and ventilator-associated pneumonia (VAP) causes in Western countries^[3]。 On April 30, 2014, WHO experts held a press conference in Geneva, Switzerland, and released the data of the first WHO surveillance report on antimicrobial resistance and antibiotic resistance in 114 countries around the world. The report pointed out that antibiotic resistance will lead to the risk of death of patients. Increased, MRSA patients are 64% more likely to die than non-drug resistant patients^[4]。 Inappropriate treatment is an important cause of its high mortality rate, which requires high vigilance. The following summarizes the recent consensus recommendations and research evidence on MRSA pneumonia, and summarizes the diagnosis, clinical characteristics, microbiological monitoring and treatment of MRSA pneumonia.

Hypothalamus-pituitary system is the core content of neuroendocrinology research. It plays a very important role in maintaining the stability of human internal environment and neuroendocrine function. It is closely related to the balance of water and electrolyte metabolism, feeding, reproduction, immunity, behavior, psychology and aging in the body. Due to the complexity of hypothalamic-pituitary system regulation, when patients develop hypothalamic-pituitary lesions, the clinical manifestations are diverse, which can be manifested as water and electrolyte disorders, abnormal feeding, thermoregulation disorders, decreased reproductive function, abnormal growth and development, which affect the quality of life and survival of patients. At the same time, it brings many doubts and difficulties to clinical diagnosis and treatment, and makes clinicians face challenges.

The global epidemic of obesity and metabolic diseases make the public health and economic development of the current society face great challenges. In recent years, some researchers believe that intestinal flora may play a potential role in the occurrence and development of such diseases, and try to intervene and treat such diseases by regulating the function and composition of intestinal flora. The following is a summary of research progress on the relationship between intestinal flora and obesity and metabolic diseases and their possible mechanisms.

primary immune thrombocytopenia (ITP) is a disease in which peripheral blood PLT is less than 100×10⁹Autoimmune hemorrhagic disorders characterized by/L, often occurring in women of childbearing age^[1]。 Pregnancy with ITP includes pregnancy and ITP after pregnancy in patients with ITP. Studies have shown that the incidence of ITP in pregnant women ranges from 1/10 000 to 1/1 000, which is one of the important diseases causing hemorrhagic events during pregnancy. Pregnancy complicated by ITP accounts for about 3% of pregnancy complicated by thrombocytopenia (GT)^[2,3]。 Pregnancy complicated by ITP often needs to be distinguished from GT during pregnancy, which has no history of ITP and often occurs in the second and third trimester of pregnancy, and PLT is generally greater than 50×10⁹/L; However, ITP often occurs in the first trimester of pregnancy, and PLT is often less than 50×10⁹/L. Studies have shown that pregnancy complicated by ITP is a special pathophysiological process in patients with ITP, although the incidence of severe thrombocytopenia in newborns is low, and intracranial hemorrhage is less common^[2,4]However, patients with ITP showed a progressive decrease in PLT after pregnancy^[2,5]Perinatal mortality and premature birth were significantly increased in pregnant patients with ITP^[6]。 In recent years, although the pathogenesis and clinical diagnosis and treatment of ITP have made great progress, the pathogenesis of pregnancy complicated by ITP is complex and still under further research. There are still many shortcomings in clinical treatment, and the choice of treatment is very important. The treatment options and related clinical studies of pregnancy complicated by ITP in recent years are reviewed.

Sepsis is a systemic inflammatory response syndrome caused by infection, with high morbidity and mortality. It can lead to septic shock and multiple organ dysfunction syndrome (MODS) with the progression of the disease, and myocardial injury is an important complication of sepsis^[1]。 Myocardial injury, including myocardial systolic and diastolic dysfunction and decreased ejection fraction, exists at the early stage of sepsis^[2]And the ultrastructural changes of cardiomyocytes^[3]。 Its pathogenesis is complex and diverse, involving circulating myocardial inhibitory factors (such as bacterial toxins, cytokines and complement system, etc.), myocardial self-factors (such as mitochondrial damage, oxidative stress, apoptosis, nitric oxide production and imbalance of calcium homeostasis) and autonomic nervous system disorders. Relevant studies on the cellular/molecular mechanisms of myocardial injury in sepsis are reviewed below.

Connective tissue disease (CTD) -related pulmonary hypertension (PAH) has become a challenge that rheumatologists must face^[1]。 Among them, the prevalence of systemic lupus erythematosus (SLE) -related PAH reached 3.8% in the registered study of China Systemic Lupus Erythematosus Research Collaborative Group (CSTAR)^[2]After neuropsychiatric lupus and lupus nephritis, organ damage caused by SLE is one of the important causes of death^[3,4]。 In addition, the number of patients with SLE-related PAH accounts for nearly 50% of CTD-related PAH in China^[5,6,7]。 Therefore, the National Rheumatology Data Center and CSTAR organized domestic rheumatology, cardiology, respiratory, imaging and other multidisciplinary experts to formulate this consensus based on international and Chinese clinical diagnosis and treatment experience and evidence (Table 1), aiming at establishing a diagnosis and treatment center for CTD-related PAH in China, improving the standardized diagnosis and treatment level of SLE-related PAH in China, focusing on early diagnosis and early intervention, and strengthening patient education and management, in order to improve the prognosis of SLE-related PAH patients in China and further improve doctors' understanding of CTD-related PAH.

The patient was a 33-year-old female. He was admitted to our department in March 2011 due to 3 years of asthma after activity, 2 years of elevated eosinophils (Eos), and 1 month of aggravation with rash. The patient developed asthma after activity 3 years ago, with decreased activity tolerance, accompanied by dry mouth and hoarseness. Rheumatoid factor (RF) was elevated in the local hospital; Six lymphocyte proliferation foci were found in labial gland pathology; Chest CT showed interstitial pneumonia and pulmonary hypertension; Cervical lymph node puncture pathology showed reactive hyperplasia; Diagnosis: Sjogren's syndrome (SS), interstitial pneumonia. He was treated with prednisone (40 mg/d), azathioprine (100 mg/d) and hydroxychloroquine (200 mg/d), and the drug was discontinued spontaneously when the dose of prednisone was gradually reduced to 20 mg/d. 2 years ago, nausea, anorexia, and weight loss of 5 kg in a short time. Blood test routine in the local hospital: WBC 10.7×10⁹/L, Eos 1.4×10⁹/L, Hb 91 g/L; Bone marrow smear showed active myeloproliferation; IgE increased; Anti-nuclear antibody (ANA) spot type 1:80, anti-double stranded DNA antibody, anti-extractable nuclear antigen (ENA) antibody negative; Right cardiac catheterization showed borderline pulmonary hypertension at rest; Pulmonary angiography was roughly normal. After treatment with prednisone (50 mg/d) and cyclophosphamide (intravenous drip, 0.6 g/month), the symptoms improved and the peripheral blood Eos decreased to normal. Prednisone was tapered to 20 mg/d for maintenance. One month ago, holding breath was aggravated, accompanied by dry cough, dry eyes, red and swollen eyelids and blurred vision; Oral and nasal mucosal ulceration and pain; Painful facial ulcers, large urticaria all over the body, and obvious itching, were admitted to our department for further diagnosis and treatment. Since suffering from the disease, the spirit and appetite are good, the sleep is poor, the defecation is normal, and the weight has no obvious change. Past history: 5 years ago, the skin ulcerated after mosquito bites on both calves, and it was not easy to heal, leaving pigmentation. There is no special history of menstruation, marriage and childbirth, personal history and family history.

September 2014Arterioscler Thromb Vasc BiolThe results of the study "Serum lipocalin-2 (LCN2) levels can independently predict the occurrence of cardiovascular events in men" from the Department of Endocrinology, Sixth People's Hospital, Shanghai Jiao Tong University were published [Wu G, Li H, Fang Q, et al. Elevated circulating lipocalin-2 levels independently predict incident cardiovascular events in men in a population-based cohort [J]. Arterioscler Thromb Vasc Biol, 2014, 34 (11): 2457-2464]. Serum LCN2 levels were reported for the first time to be independent predictors of cardiovascular events in men.

January 2014ChestA clinical study led by Beijing Chaoyang Hospital affiliated to Capital Medical University, the Beijing Center for Disease Control and Prevention and the Institute of Virology of the Chinese Center for Disease Control and Prevention and based on the Beijing Adult Community Acquired Pneumonia Surveillance Network (BNACAP) was published "Adenovirus 55 is one of the important causes of community-acquired pneumonia in adults (Chinascan study) "[Cao B, Huang GH, Pu ZH, et al. Emergence of community-acquired adenovirus type 55 as a cause of community-onset pneumonia. Chest, 2014, 145 (1): 79-86] 。 This study is a multicenter, observational study and is the first large-scale cohort study of community-acquired pneumonia (CAP) caused by adenovirus 55 (HAdV-55).

[Website] http: / /www.ese-hormones.org/

[Website] http: / /press.endocrine.org/journal/edrv

A recent randomized controlled trial of patients with type 2 diabetes and vitamin D deficiency, using cholecalciferol as an intervention treatment, found that high-dose vitamin D₃Therapy increases insulin secretion in patients with type 2 diabetes and has no effect on indicators such as beta cell function and inflammatory markers (Metabolism, 2014, 63:1115-1124).