Objective:To analyses distribution and resistant profile of acquired infections of acinetobacter baumanii.Methods:Distribution and the resistant patterns of acquired infections of acinetobacter baumanii in our hospital were analysed by a retrospective analysis from the year 2003~2005.All of the isolates were tested by Kirby-Bauer susceptibility,and the antibiotic resistance was judged according to NCCLS standard.Results:The isolation rate of Acinetobacter baumannii was the higher in vena pipe,sputum,secretion and bile,the isolation rate was 11.5%~37.5%respectively.Primary acquired infections were Acinetobacter baumannii in department of breathe,burn,neurosurgery,heart internal medicine,transplantation,chest surgery and intensive care units.The bacterial resis-tancet rate to common antimicrobial agents increased year by year.There sistance rate s of Acinetobacter baumannii to antibiotics such as Cefop-erazone,Ampicillin,Ceftriaxone,Cefuroxime,Amoxicillin/Clavulanic Acid were over 50 % every year respectively.Levofloxacin,Meraopenem,Imipenem,Cefopera-zone/Sulbactam,Ampicillin/Sulbactam and Piperacillin/Tazobactam all had antisepsis activity to Acinetobacter baumannii relatively.Conclusion:The infection rate and the antibiotics rate of hospital acquired infections of Acinetobacter baumannii was yearly increase,resistance to anti-microbial agents have the characteristics of high prevalence.Its necessary to strengthen the clinic monitoring and select reasonable antibiotic in order to improve curative effect and delay bacteria of resistance to antimicrobial agents.

Objective To investigate the distribution and drug resistance of pathogens of ventilator-associated pneumonia(VAP) in general intensive care unit(ICU).Methods Statistical methods were used to analyze retrospectively the data of pathogens and drug resistance of VAP in general ICU from 2004 to 2006.Results Totally 347 pathogens were isolated from deep-part secretion of lower respiratory tracts of 302 VAP in general ICU.The main pathogens included Pseudomonas aeruginosa(32.3%),Acinetobacter baumanii(31.1%),Staphylococcus aurous(16.7%),Klebsiella(7.5%) and Coagulase-negative Staphylococci(6.1%).Gram-negative bacillus showed a high resistance to piperacillin and Cefotaxime but high susceptibility to carbapenems and the enzyme inhibitor antibiotics.Gram-positive coccobacteria showed a high resistance to Penicillin,Clindamycin and Erythromycin but high susceptibility to Vancomycin and Quinolone.Conclusion Gram-negative bacillus was the main pathogen of VAP in general ICU,multidrug resistance was serious.The rate of methicillin-resistant staphylococcus aurous(MRSA) and methicillin-resistant coagulase-negative staphylococci(MRCNS) was high,with serious drug resistance.According to the data of the bacteria pathogen and antibiotics susceptibity,we can select antibiotics reasonably to control the infection and delay the emergency of new drug-resistant bacteria.

Objective To investigate the levels of platelet-derived growth factor-BB (PDGF-BB) and its role in the pathogenesis of the patients with hepatic diseases.Methods The levels of serum PDGF-BB in 30 chronic patients (hepatitis B,26; hepatitis C,4),24 patients with post-hepatitis cirrhosis,30 patients with primary hepatocellular carcinoma,and 20 normal controls were measured by ELISA.The levels of PDGF-B mRNA in peripheral blood mononuclear cells were measured by reverse transcription polymerase chain reaction (RT-PCR).Results The serum levels of PDGF-BB and the levels of PDGF-B mRNA in peripheral blood mononuclear cells were significantly higher in the patients with hepatic diseases (F=1774.40,1037.42,P

The clinical laboratory department practice in hospital is very important in the teaching process of medical laboratory science and medical laboratory technology science .It is the transition link of guiding the students to go to the clinical job .This paper analyzes the problems and challenges in the process of clinical teaching and management of the trainees majored in medical laboratory science and medical laboratory technology science .Then summarizes the countermeasures to effectively cultivate these trainees , including setting up a teaching group , doing the overall quality control for the process of practice teaching using ISO15189 quality control methods for reference , establishing the evaluation mechanism for both trainees and tutors , founding virtual laboratory to improve the teaching effect of morphology , strengthening the consciousness of quality control , expanding the professional vision of interns and strengthening the cultivation of the scientific research ability of interns .

Objective To analyze the clinical features of juvenile-onset clinically amyopathic dermatomyositis complicated by progressive interstitial pneumonia.Methods A retrospective analysis of a case of juvenile-onset clinically amyopathic dermatomyositis on clinical features,diagnosis and treatment was performed.Data of the other three reported cases were also reviewed.Results The patient was an adolescent girl presented with Gorrton's sign.The patient did not have fatigue and got normal result in creatine kinase and elctromyogram test.The HRCT exam showed interstitial pneumonia.The mean age of the four cases at the time of onset is 12.3 years old.Gottron's sign (3/4) and fever (2/4) are the most common symptoms of onset.Anti-nuclear antibody (ANA),anti-Jo-1 antibody are 100％ negative in the four patients.Two of the four patients who received anti-Ro-52 antibody test are both positive.Three of the four patients were asymptomatic when the CT scan showed interstitial pneumonia.The interstitial pneumonia was progressive and three of the four patients died of respiratory failure within six months.Treatment with glucocorticoid and immunosuppressant was successful in one case.Conclusions Juvenile CADM can be complicated by progressive interstitial pneumonia.Children suspected CADM should perform pulmonary imaging examinations to find interstitial pneumonia.Children diagnosed as CADM complicated by interstitial pneumonia should receive glucocorticoid and immunosuppressant treatment to prevent progression.

Objective:To establish the detection method for the interferon stimulated genes(ISGs), calculate the cut-off value and test it in clinical practice.Methods:Patients with type I interferonopathies who were admitted to Peking Union Medical College Hospital from November 2017 to September 2021 were chosen as the disease group, and healthy children were included as the control group. A total of 18 children were in the disease group, including 8 males and 10 females, with a median age of 8.5 years for the first test. From them 25 blood specimens were collected. A total of 28 healthy children, aged 1 to 18 years, with a median age of 10.5 years, including 15 males and 13 females, were included in the control group. Blood samples of 34 controls and 18 interferonopathies patients were collected, then total RNA extraction and cDNA synthesis were performed. Real-time quantitative polymerase chain reaction assays were run in duplicate to measure the expression of six ISGs: interferon induced protein with tetratricopeptide repeats 1 (IFIT1), interferon α inducible protein 27 (IFI27), interferon induced protein 44 like (IFI44L), interferon stimulated genes 15 (ISG15), sialic acid binding Ig like lectin 1 (SIGLEC1), and radical S-adenosyl methionine domain containing 2 (RSAD2). The relative abundances of each target transcript was normalized to the expression level of β-Actin and OAZ. The median fold change of the six ISGs was used to create an interferon score (IS) for each individual. Samples with abnormal expressions were removed and the cDNA mix of the remaining samples was used as a calibrator to calculate the IS. We define an abnormal IS as being greater than+2 standard deviations above the mean of controls. Differences in IS between groups were compared using t-test or Mann-Whitney U-test. Results:The mean IS of controls was 1.046, standard 0.755, and the cut-off value was 2.556. A total of 25 samples from 18 interferonopathies patients were tested. The mean value was 27.010 with a 15/18 abnormality rate. Compared with the control group, IS in patients was significantly higher, t=4.247( P=0.000 1). The accuracy, precision, sensitivity, and specificity were 91.30% (42/46), 7.47%(0.084/1.124), 15/18, and 96.43% (27/28), respectively. Conclusion:This study provides a new and reliable method for clinical screening and dynamic monitoring of type Ⅰ interferonopathies by detecting ISGs expression and creating an IS.

Objective:To summarize the clinical phenotype and genetic characteristics of deficiency in ELF4 gene X-linked (DEX).Methods:A case series study was conducted to retrospectively analyze the clinical data and genetic testing results of 2 cases of DEX treated at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and the First Hospital of Jilin University from January 2023 to April 2024. And literature up to April 2024 was searched from the PubMed database, as well as CNKI and Wanfang databases, using keywords such as "ELF4 deficiency" "deficiency in ELF4, X-linked""ELF4 gene". The main clinical manifestations and genotypes of DEX were summarized.Results:Both patients were male, with onset ages of 3 months and 3 years, respectively. Both patients presented with recurrent oral ulcers and abdominal pain. And the laboratory examination showed a significant increase in inflammatory markers. Intestinal examinations showed multiple intestinal ulcers, and both patients developed intestinal fistulas. Whole exome sequencing found ELF4 c.799C>T, p Arg267Trp and ELF4 c. 248-7G>A, both maternal variants. Based on clinical and genetic results, DEX were diagnosed. In terms of treatment, both patients underwent surgical treatment during the acute phase of the disease and received anti-tumor necrosis factor α therapy, but recurrent gastrointestinal symptoms were still observed in Patient 1, while the clinical effect in Patient 2 was still acceptable. However, the inflammatory markers in both patients were not normal even after treatment. Literature review found 18 patients including 2 patients in this study, reported in 5 English articles and no Chinese reports. Thirteen patients had disease onset age before 5. The main clinical manifestations were fever (12/17), oral ulcers (14/18), abdominal pain (8/18), diarrhea (6/18), perianal ulcers (5/17), ileum ulcers (6/16), colon ulcers (7/16), skin involvement (7/17) and recurrent infections (7/18); laboratory examinations found increased erythrocyte sedimentation rate (13/15) as well as C-reactive protein (9/9), and anemia (13/15); in terms of immunological function, there is a decrease in natural killer cells (9/15) as well as a decrease in class switching memory B cells (8/9). The main types of gene variantions were missense variantions (6/18), nonsense variantions (4/18) or frameshift variantions (3/18).Conclusions:DEX should be considered when an early-onset male patient manifested with recurrent fever, oral ulcers or mucosal ulcers, with elevated inflammatory markers, with or without recurrent infection. It is recommended to perform lymphocyte subsets analysis, gastrointestinal endoscopy and genetic testing to support the diagnosis.

Objective To summarize the clinical characteristics and treatment efficacy of the first reported case of a Chinese boy with stimulator of interferon genes (STING) associated vasculopathy with onset in infancy (SAVI).Methods Sanger sequencing of the gene TMEM173 was performed based on systemic evaluation and clinical analysis of a highly suspected SAVI child admitted to Peking Union Medical College Hospital.A literature search (search terms included'STING''SAVI''autoinflammatory diseases' and'interferonopathy') was conducted using Chinese literature database,EMBASE and PubMed to include recently published SAVI studies (searched from January 2010 to December 2017).Results A 14-year-old boy who had a history of chronic dry cough along with decreased activity tolerance after birth presented with growth retardation,chilblain lesions on the ear,telangiectasia of multiple skin areas and long clubbed fingers.His C-reactive protein was 21 mg/L,erythrocyte sedimentation rate was 78 mm/1h,and IgG was 22.16 g/L.The high-resolution computed tomography (HRCT) revealed interstitial lung diseases and echocardiography showed pulmonary artery hypertension,with a level of 61 mmHg (1 mmHg=0.133 kPa).Genetic mutation of TMEM173 (c.463G＞A,p.V155M) was confirmed by Sanger sequencing.His activity tolerance increased to some extent after treatment with tofacitinib at a dose of 5 mg twice a day.Our review yielded 8 publications (8 English and 0 Chinese).To date 20 cases have been reported worldwide,who mostly presented with skin and lung involvement as well as growth retardation.Conclusions SAVI has been included within the spectrum of interferonopathy,which is a kind of autoinflammatory diseases as well.Typical clinical features include chilblain skin lesions,interstitial lung disease,growth retardation,elevated IgG levels,and increased inflammation markers.Janus kinase (JAK) inhibitors may offer benefit for SAVI patients.

Objective:To enhance the early recognition of Prader-Willi syndrome by summarizing the clinical characteristics of Prader-Willi syndrome (PWS) during perinatal period.Methods:Through a nationwide cross-sectional study in the Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences,226 children diagnosed as PWS by molecular genetics were recruited from September 2019 to March 2020. Clinical data including fetuses Age, birth weight, fetal movement, fetal position, amniotic fluid, mode of bith, crying, muscle tension, feeding, and cryptorchidism were collected to analyze the clinical characteristics of Chinese PWS patients in the perinatal period, and according to the mode of birty, birth weight and genotypes to perform subgroup analysis. The clinical manifestations of different subtypes were statistically analyzed by t test, χ 2 test or Mann-Whitney U test. Results:Among the 226 PWS patients, 120 were males, and 106 were females. Among them, 100 (44.2%) patients were small for gestational age. Decreased fetal movement was the most common manifestation 202 cases (89.4%) during pregnancy, and other manifestations included polyhydramnios 71 cases (31.4%) and abnormal fetal position 58 cases (25.7%). One hundred and eighty-five (81.9%) patients were delivered by cesarean section and the frequency of abnormal fetal position was significantly higher (30.8%(57/185) vs. 2.4%(1/41),χ2=14.161, P<0.01). As for abnormal manifestations after birth included hypotonia 221 cases (97.8%),220 cases (97.3%) showing weak crying, 116 cases among the total 120 males patients (96.7%) wanifested with cryptordnildism and 206 feeding difficulties (91.2%). In terms of genetic subtype, most of them (184/226, 81.4%) had a paternal deletion, while maternal age (35±5 vs. 29±5, t=-6.591, P<0.01) and the frequency of polyhydramnios (47.6% (20/42) vs. 27.7% (51/185), χ2=6.286, P=0.012) were significantly higher in the non-deletion group. Conclusions:The main manifestations of PWS patients during the perinatal period are hypotonia, weak crying, feeding difficulties, decreased fetal movement, cryptorchidism and those patients are more likely to be born by cesarean section. In newborns with these characteristics, pediatricians should be aware of the possibility of PWS. In terms of the relationship between genotypes and phenotypes, polyhydramnios is more frequently observed in the non-deletion group.

Objective:To summarize the clinical characteristics of type I interferonopathies and provide clues for early identification and diagnosis.Methods:Clinical data of 20 patients admitted to Department of Pediatrics, Peking Union Medical College Hospital and 5 patients admitted to Department of Rheumatology and Immunology, Shenzhen Children′s Hospital from January 2016 to September 2021 were retrospectively analyzed. The data included gene results, clinical manifestations and auxiliary examination results.Results:Of the 25 cases, 12 were males and 13 were females. Age of onset ranged from 1 day to 11 years. And 84% of them had the onset before the age of 3 years. The cases consisted of 14 cases of Aicardi-Goutières syndrome (AGS), 6 cases of adenosine deaminase 2 deficiency (DADA2), 3 cases of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and 2 cases of Spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Eighteen patients (72%) experienced neurologic disorder, among whom 16 (64%) showed intracranial calcification, 11 (44%) had dystonia, 10 (40%) had leukodystrophy, 6 (24%) had epilepsy, 5 (20%) had brain atrophy and 5 (20%) had early-onset cerebrovascular events. Skin involvement occurred in 15 cases (60%), among whom 8 cases (32%) had chilblain-like rash, 4 cases (16%) had livedo reticularis, 3 cases (12%) had erythema, 2 cases (8%) had erythema nodosum and 2 cases (8%) had Raynaud′s phenomenon. In addition, 12 cases (48%) had positive autoimmune antibodies, 10 cases (40%) manifested as developmental retardation, 8 cases (32%) experienced lung interstitial lesions, and 7 cases (28%) demonstrated thyroid dysfunction. And 1 died (4%) at 11 years of age.Conclusions:Type Ⅰinterferonopathies can involve multiple organs, and share the characteristics of systemic inflammatory and autoimmune diseases. The early-onset neurological symptoms (early-onset cerebrovascular events, intracranial calcification, leukodystrophy and cerebral atrophy), rashes (chilblain-like rash, livedo reticularis and erythema), positive autoimmune antibodies, developmental delay, interstitial lung disease and thyroid dysfunction may indicate type Ⅰ interferonopathies.