2017年 · 第55卷第01期

primary immunodeficiency diseases (PID) are a kind of rare immunogenetic diseases, which are heterogeneous diseases caused by defects in one or more elements of the body's immune system. PID is now divided into 9 categories, including combined immunodeficiency, antibody-dominated immunodeficiency, immunodeficiency syndrome, immunodeficiency diseases, phagocytic cell deficiency, innate immunodeficiency, autoinflammatory diseases, complement deficiency and phenotypic diseases^[1]。

Functional gastrointestinal disease (FGID) originally refers to a class of gastrointestinal functional diseases that are age-related, chronic or recurrent, and cannot be explained by organic lesions or biochemical abnormalities. The Rome IV criteria redefined FGID, also known as abnormal brain-intestine interaction, emphasizing that its symptoms are related to motility disorders, visceral hypersensitivity, changes in mucosal and immune functions, changes in intestinal flora and abnormal regulatory function of the central nervous system.

Updated classification of hematopoietic and lymphoid tissue tumors since 2008 by the World Health Organization (WHO)^[1]Since then, many unique biomarkers related to acute leukemia have been discovered one after another. Most of these biomarkers are derived from gene expression analysis and second-generation sequencing, which significantly improve the diagnostic criteria of subtypes in WHO classification and their correlation with prognosis. In the spring of 2014, a Clinical Advisory Committee (CAC) of 100 international pathologists, hematologists, oncologists and geneticists proposed new changes. The revised version still follows the principles of the old classification, defining independent diseases of clinical significance by morphology, immunophenotype, cytogenetics and molecular genes. Therefore, the 2016 WHO classification of hematopoietic and lymphoid tissue tumors^[2]It only makes necessary amendments and supplements to the original types, and adds new types that have been recognized and defined in recent years. Only the acute leukemia section, including acute lymphocytic leukemia (ALL), acute myeloid leukemia (AML) and related tumors and mixed phenotype acute leukemia (MPAL) revised contents are briefly interpreted.

A 13-year-old male was admitted to the hospital mainly for "intermittent fever for 1 month, abdominal pain and jaundice for 8 days". At the beginning of the disease, the body temperature was moderately high fever and relaxed fever. On the 4th day of onset, he was hospitalized in a local hospital. Multiple blood routines showed leukopenia and mild anemia. Echocardiography (UCG) showed posterior mitral valve prolapse, severe regurgitation, left atrial enlargement, mild tricuspid regurgitation, and a small amount of pericardial effusion. Multiple blood cultures were negative, and no positive results were found in Mycobacterium tuberculosis and multiple virus etiology tests. Diagnosis: Valvular heart disease, infectious endocarditis? Meropenem and norvancomycin were given to fight infection, and cedilan and furosemide were given at the same time. There was still recurrent fever, and the fever type and peak value did not change. During this period, there were no other accompanying symptoms except fever. On 13 days after the course of the disease, he was transferred to the Department of Infectious Diseases of Beijing Anzhen Hospital. Reexamination of UCG showed prolapse of posterior mitral valve and rupture of chordae tendineae. After hospitalization, he was given cardiotonic and diuretic treatment. After administration of cefepidone and dexamethasone (the specific dose is unknown), his body temperature was normal for 6 days. After the dose of dexamethasone was reduced, he had fever again, mainly moderate and high fever. On the 11th day of hospitalization, he had yellowing skin and abdominal pain, which showed upper abdominal pain, which was persistent and gradually worsened. Multiple blood tests during hospitalization showed leukopenia [(3.08~3.5) ×10⁹/L], mild anemia [(91~102) g/L], thrombocytopenia or low limit of normal [(87~102) ×10⁹/L]; C-reactive protein (CRP) was not high (both<10 mg/L), blood biochemistry suggested progressive aggravation of hepatic impairment. In-hospital consultation, it is recommended to perform antinuclear antibody profile (ANAs) and complement detection. Hospitalization 16 d blood culture return: Acinetobacter baumannii, plus meropenem to fight infection. At the same time, the results reported that the complement C3 and C4 were decreased, and ANA was positive (titer 1:1 000). The rheumatology department of Peking Union Medical College Hospital was consulted and diagnosed with systemic lupus erythematosus (SLE), and high-dose methylprednisolone (200 mg ×1 d, 500 mg ×1 d) was treated with anti-infection at the same time, and intravenous immunoglobulin (IVIG) (total 40 g) was applied. The body temperature dropped on the second day, but jaundice and abdominal pain were not alleviated compared with before, accompanied by mental poverty. After 18 days of hospitalization, he was transferred to our hospital for continued treatment. During the course of the disease, the child had no rash, alopecia, joint swelling and pain, cough, dyspnea, vomiting, diarrhea, blood in the stool, headache and convulsions. In the past week, oral ulcers were found, the urine color was brown, there was no oliguria, and there was no obvious foam. Weight loss of 10 kg since onset of disease.

The child was a male, 3 years and 8 months old. See a doctor due to fever and cough for 2 days. The child had fever on December 10, 2016, with a body temperature of 39.9℃ and cough. On December 12, he went to the emergency department of Children's Hospital affiliated to Capital Institute of Pediatrics. As the routine surveillance of influenza virus in influenza-like cases (ILI), throat swab samples were collected from children. Real-time fluorescence reverse transcription-PCR was used in the laboratory to detect influenza virus nucleic acid. The results showed that the children were positive for influenza A virus, while the typing of influenza A H1N1 and influenza A 3 viruses was negative. Then, the specimen was further typed with the nucleic acid detection kit of influenza A H1N1, H3, H5, H7N9 and H9 viruses (product of Shuoshi Biotechnology Co., Ltd.), which showed that H9 nucleic acid was positive, while the amplification of other types was negative, indicating that the child was infected with avian influenza virus H9. As one of the national influenza surveillance network laboratories, the specimens were sent step by step in time, and after review by Beijing Center for Disease Control and Prevention and the National Influenza Center, they were confirmed cases of human infection with avian influenza virus H9N2. After outpatient treatment, the child's body temperature returned to normal on December 13th.

The child was a 13-year-old male. Six years ago, due to "polydipsia, polyuria and weight loss for more than 2 months", I went to the Department of Endocrinology, Genetics and Metabolism of Pediatric Hospital affiliated to Fudan University for the first time. After fasting at the onset, my blood sugar was 18.9 mmol/L, serum insulin was 0.52 mU/L (reference range: 2.2~25.0), C peptide was 0.51 μ g/L (reference range: 1.1~4.4), anti-glutamate decarboxylase antibody, anti-insulin antibody and anti-islet cell antibody were negative, my body mass index was 14.8, and my thyroid function was normal. Therefore, I was diagnosed as "type 1 diabetes", so I was given subcutaneous insulin injection treatment. Since the age of 9, the child has visual acuity decline, ophthalmic examination reveals optic nerve atrophy, and visual evoked potential examination results are normal. At the age of 11, the ENT examination showed high-frequency hearing loss in the left ear, normal hearing in the right ear, and normal auditory evoked potential examination results. In the same year, the child had increased nocturia and enuresis. There was no obvious increase in white blood cells in urine examination, normal urine specific gravity, no obvious polydipsia and polydipsia. B-ultrasound of urinary tract showed slight widening of bilateral ureters throughout the course, and retrograde urography showed excessive residual urine and no obvious vesicoureteral reflux. Insulin subcutaneous injection was given to control blood glucose, and glycosylated hemoglobin fluctuated from 6.6% to 7.9%. By October 2016, there were no other system abnormalities such as nervous system and mental system. His parents are healthy, belong to close relatives, are aunts and cousins, and deny family history of diabetes and genetic diseases. According to the clinical presentation of the child, the clinical diagnosis is considered as Wolfram syndrome.

severe combined immunodeficiency disease (SCID) is the most severe type of combined immunodeficiency disease, and often dies within 1 year of life. The incidence of SCID is approximately 1 in 100 000 live births^[1]But because children with SCID often die before a definite diagnosis, this number may be seriously underestimated. SCID is a deficiency and/or dysfunction of T lymphocytes, B lymphocytes and NK cells caused by a variety of genetic factors, resulting in serious deficiencies in both humoral and cellular immunity. This primary immunodeficiency is often defined as deficiency of initial T cells. Untreated, the case fatality rate of SCID was 100%. At present, the commonly used treatment method is hematopoietic stem cell transplantation (HSCT), and gene therapy has also been successfully applied in some types of SCID. Early diagnosis and early treatment before infection are the primary conditions for improving prognosis^[2]。

Neonatal jaundice is the most common clinical symptom in the neonatal period that needs to be assessed and managed^[1]。 A national survey reported a total of 348 cases of bilirubin encephalopathy or kernel jaundice, accounting for approximately 4.8% of the total number of children admitted. The multicenter survey showed that 42.2% of the 223 cases followed had severe neurological sequelae^[2]。 A North American and European survey showed that the incidence of bilirubin encephalopathy or kernel jaundice was (0.5 to 2.4) per 100,000^[3]。 Therefore, in order to avoid or reduce the occurrence of bilirubin encephalopathy or kernel jaundice, it is particularly important to monitor neonatal jaundice in a timely, dynamic, non-invasive, convenient and economical manner. Blue light therapy is the first choice for the treatment of neonatal hyperbilirubinemia. The conventional view is that phototherapy is a noninvasive therapy with mild adverse reactions, but the research suggests that the near-term adverse reactions and long-term possible adverse reactions of phototherapy should not be ignored^[4]。 Therefore, in order to improve the accuracy of clinical phototherapy intervention decision-making, the monitoring method needs to be as accurate as possible. At present, there are four main methods for determining bilirubin^[5]: (1) Determination of serum total bilirubin value (TSB) by biochemical method: It is the gold standard for diagnosing neonatal hyperbilirubinemia. It has the advantages of high accuracy and few interfering factors, and can distinguish direct and indirect bilirubin, but it needs to collect 1~2 ml of blood, so it increases bleeding, infection and blood loss (especially for premature infants^[6]) and other risks, which are not conducive to repeated monitoring. (2) Determination of plasma total bilirubin in peripheral blood by microbilirubin analyzer: time consuming is relatively short, and the accuracy is relatively high. (3) Application of high performance liquid chromatography to determine serum bilirubin value: the most accurate, but the instrument is expensive and the operation is complicated. (4) Apply special instruments to estimate and determine the transdermal bilirubin value (TcB): generally the total bilirubin concentration value. The instrument basically meets the requirements of "timely, dynamic, non-invasive, convenient and economical"^[7]Especially for areas where medical resources are scarce^[8]More valuable. In addition, digital imaging of neonatal yellow-stained sclera is a promising technique for neonatal jaundice screening^[9]。 The linear positive correlation between TcB and TSB has been reached a consensus, but whether the correlation and the difference between them will be affected by many factors is still unknown. The application progress of TcB measurement in the management of neonatal jaundice in recent years is reviewed.

In recent years, propensity score matching (PSM) has been widely used in clinical research, but there are still many problems in the application process.