Objective To study the change of CD4+ CD25+ Foxp3high regulatory T cells (Treg cells) and the molecules associated with Treg cells in different immune status in infant with sepsis, and to further clarity the pathogenesis of disturbed immune function in infant with sepsis. Method Totally 36 sepsis infants admitted in In-tensive Care Unit of Shenzhen Children' s Hospital from May 2007 to November 2007 and 16 age-matched healthy infants were collected for prospective study, after excluding autoimmune disease, immunodeficiency, inherited metabolic disorders, tumor, and drug-treatment that could affect immune function during lately 6 months. The study was approved by Ethics Committee of Shenzhen Children's Hospital. The 36 infants with sepsis were divided into two groups according to expression levels of HLA-DR in CD14-positive cells: DR-H group was defined as patients with HLA-DR > 30%, while DR-L group was defined as patients with HLA-DR < 30%. Expression levels of HLA-DR in CD14-positive cells and the proportion of Treg cells were analyzed by flow cytometry. Real-time PCR were used to evaluate the mRNA levels of Foxp3, CTLA-4,GITR, and IL-10 in CD4-posidve ceils. Statistical analysis was performed by one-way Anova. There was statistical difference with P < 0.05. Results The proportion of Treg cells in DR-L group was found to be significantly higher than that in healthy control or DR-H group (P <0.05).Compared with healthy control group or DR-H group, transcriptional levels of Foxp3, CTLA-4 and IL-10were significantly increased in DR-L group (P <0.05). The levels of GITR mRNA in DR-L group were detected to be higher than those in DR-H group (P < 0.05). Conclusions Aberrant increased proportion of Treg cells may be associated with suppressed immune status in infant with sepsis.

BACKGROUND: Acute renal insufficiency (ARI) usually occurred following liver transplantation due to the surgical trauma and the application of immunosuppressant, which lack of unified diagnostic criteria. OBJECTIVE: To investigate the experience of diagnosis and treatment of ARI following liver transplantation.DESIGN, TIME AND SETTING: The experiment was performed at the 458 Hospital of Chinese PLA from January 2004 to December 2006.PARTICIPANTS: A total of 37 cases received liver transplantation, including 35 males and 2 females, aged 37-67 years, mean aged (48.5±8.9) years. All cases were divided into the liver cancer group (n=16) and liver cirrhosis group (n=21). The liver cirrhosis group included 16 cases with posthepatitic type B cirrhosis, 4 with posthepatitic type C cirrhosis, and 1 with alcoholic cirrhosis. All these cases were in decompensation stage. The final diagnosis was performed by pathological examination. METHODS: The removal of kidney and construction of blood outflow tract was achieved by modified piggy-back liver transplantation. The arterial blood gas analysis, blood routine examination, renal function and liver function were examined more than twice per day. The cephalosporins, Fluconazole and ganciclovir or vancomycin were used for 5-7 days to prevent infections.MAIN OUTCOME MEASURES: The incidence rate of acute ARI, clinical features and outcomes of patients were observed.RESULTS: ARI developed in 19 patients with liver transplantation, 5 patients died, 14 patients recovered in 2-3 weeks. The incidence of ARI following liver transplantation was associated with infection, bleeding shock, respiratory failure and acute respiratory distress syndrome (P < 0.05). CONCLUSION: The incidence of ARI following liver transplantation was 51.35%, with 26.32% mortality rate. The early diagnosis and treatment are the key steps for increasing successful rate of ARI treatment following liver transplantation.

Objective To estimate the radiation dose and cancer risk of thyroid for children who underwent head CT or chest CT scans.Methods The parameters used in the CT scans were accessed from the DICOM files through PACS used DCMTK software, then the thyroid radiation dose was estimated with the CT-Expo(C) software and the cancer risk induced by CT scan was projected based on BEIR Ⅱ model combined with the Chinese cancer incidence and lifetime table in 2008.Results CT parameters used for different ages were roughly the same, the thyroid equivalent dose for head CT ranged from 1.2-2.0 mGy, the highest thyroid cancer risk occurs for newborn girls, about 9.6/100 thousand population;while for chest CT the thyroid equivalent dose ranged from 8.1 to 38.0 mGy, the highest thyroid cancer risk was also for newborn girls, about 244.7/100 thousand population.The radiation dose and cancer risk for thyroid decreased with the increased age.Conclusions The radiation dose for thyroid from chest CT was relatively higher than head CT, especially for newborn babies;therefore more protection should be given to the thyroid and other radio-sensitive organs during CT scanning.

Objective To ascertain the frequency distribution of CT examinations in children.Method A wide range of information was collected through the radiology information system (RIS),including ID,sex,birth date,examination time,the examined part of body and other relevant ones related to children who underwent CT examinations between Jan 1,2012 and Dec 31,2012.The SAS software was used for data processing and statistical analysis.Results A total of 1 542 children underwent 1 670 examinations,of which 67％ were male.Head CT examination was the most frequent,accounting for 71.9％ of all CT examinations,and followed by the abdomen/pelvis examinations.The number of examinations of children undergoing the repetitive examination accounted for 6.4％; 51.7％ of the examinations was for trauma.The positive rate of CT examination was 51％,dependent upon the age and examined body parts to some extent.The younger patients had lower positive rate,and the positive rate of head CT examination was lower than those in other parts.Conclusions To reduce the possible cancer risk to be induced by the ionizing radiation from CT,justification of CT examination should be considered for children.

Objective To investigate the clinical and biochemical metabolic features of 12 patients with systemic primary carnitine deficiency(CDSP) and to identify the SLC22A5 gene mutation types of the disease. Method The clinical and biochemical data were collected by retrospective analysis. DNA direct sequencing and multiplex ligation dependent probe amplification(MLPA)were applied for SLC22A5 gene analysis. Result Among 12 patients with CDSP, 3 cases had evident infection factors, 6 cases with convulsions, 5 cases manifested liver hypertrophy, 8 cases with hyperammonemia, and 9 cases showed myocardial damage. All CDSP patients were detected biallelic pathogenic mutation in SLC22A5 gene by direct sequencing. The gene types include IVS2+1G>T, c.3G>T(p.Met1Ile), c.760C>T(p.Arg254X), c.1400C>G(p.Ser467Cys), c.844dupc(p.Arg282fs), c.338G>A(p.Cys113Tyr), c.51C>G(p.Phe17Leu), c.659A>T(p.Glu220Val), and c.1365dupC(p.Thr456fs). c.659A>T(p.Glu220Val) and c.1365dupC(p.Thr456fs)are novel mutations. One female patient was maternal CDSP, her child had abnormal newborn screening. The allele frequency of c.760C>T(p.Arg254X) and c.1400C>G(p.Ser467Cys) were 37.5%(9/24)and 29.2%(7/24)respectively. The MLPA test results of all patients were negative. Conclusion The clinical manifestations are complex and various in patients with CDSP. Point and small InDel(insertions/deletions)mutation constitute the major alteration in SLC22A5 gene. c.1400C>G(p.Ser467Cys) might be another prevalence mutation type in Chinese CDSP patient.

Objective To investigate the cliuical phenotype and the genotype of forty-one patients with steroid 5α-reductase type 2 deficiency.Methods The clinical data were collected including physical examination,medical history,laboratory test,as well as ultrasonic examination.Genomic DNA was extracted from peripheral blood leukocytes.Sanger sequencing and targeted gene captured next-generation sequencing were applied to detect the SRDSA2 gene mutation.Results All the patients are Han nationality and their ages ranged from 4 months to 11 years old.The karyotypes of 41 patients were 46,XY and all SRY genes were detected as positive.There were 26 (63％) patients manifested isolated micropenis,and the rest of fifteen patients were hypospadias associated with microphallus accounting for 37％.There were 39 patients who carried biallelic mutation.Two cases just identified one allele mutation.Sixteen gene mutation types were confirmed.Among them c.725A ＞ G (p.Tyr242Cys),c.694C ＞ G (p.His232Asp),and c.548-9T＞G are the novel gene types.The allele frequency of c.680G＞A (p.Arg227Gln) is 60％ (48/80).Conclusion The primary manifestations of patients with steroid 5α-reductase type 2 deficiency were micropenis or hypospadias accompanied with micropenis.c.680G＞A (p.Arg227Gln) is the predominantly mutation type of Chinese patient with steroid 5α-reductase type 2 deficiency.

Objective:To investigate the application value and treatment opportunity of single balloon enteroscopy in children with Peutz-Jeghers syndrome(PJS).Methods:A retrospective analysis was conducted on 33 children diagnosed with PJS in Hunan Children′s Hospital from January 2011 to September 2021.The patient′s age, gender, family history, clinical symptoms, enteroscopy examination and treatment, number of polyps, intraoperative and pos-toperative complications, surgical treatment, recurrence of surgery, and follow-up data were analyzed, and the chi- square test was used for statistical analysis. Results:A total of 33 PJS children aged (9.00±3.13) years, including 21 males and 12 females, were included.All of them received at least once single balloon enteroscopy test.The main manifestations of the children were black spots (33 cases) and multiple polyps in the digestive tract (31 cases). In all the 33 cases, black spots were distributed on lips.Some black spots were also found at the end of fingers (3 cases), at the end of foot toes(2 cases), and at the end of finger toes (6 cases). During the operation, 391 polyps were removed, most of which were jejunum polyps (37.08%, 145/391 polyps). Eleven children with PJS has intussusception, of which intestinal intussusception accounted for 90.91% (10/11 cases). Ten cases (30.30%, 10/33 cases) received surgical treatment, and 72.73% (8/11 cases) underwent surgery for acute refractory intussusception.One case had intestinal perforation and 2 cases were bleeding during the operation, and the 3 cases recovered completely after hemostatic clip sealing and surgical treatment.The incidence of hollow ileum polyps and giant polyps in children aged >8 years was higher than that in children aged ≤8 years[92.55% (149/161 polyps) vs.7.45%(12/161 polyps), 96.20%(76/79 polyps) vs.3.80% (3/79 polyps)]. The differences were statistically significant ( χ2=9.854, 8.711, all P<0.05). There was no significant difference in the incidence of intussusception among different age groups ( P>0.05). Among the 33 children with PJS, 57.58% (19/33 cases) had recurrence 1-3 years after operation, and no cases of cancer have been followed up so far. Conclusions:Intestinal polyps are common in children with PJS, and the application of single-balloon enteroscopy in children with PJS is reliable and safe.Children over 8 years old are more vulnerable to empty ileum polyps and giant polyps.Therefore, it is advised that children aged above 8 years with PJS should undergo at least once enteroscopy.

Objective:To investigate the changes of CD8 + CD28 - regulatory T cells (Treg) and its role in the pathogenesis of Kawasaki disease (KD). Methods:A total of 48 children with KD were enrolled in the present study from June 2019 to December 2021. Blood samples were collected from them during acute phage of KD and after intravenous immunoglobulin (IVIG) treatment. Another 32 age-matched healthy children were recruited as control group. The proportions of CD8 + CD28 -Treg cells and the expression of programmed cell death protein 1 (PD-1), factor associated suicide ligand (FasL), inducible T-cell co-stimulator ligand (ICOSL), CD80 and CD86 protein were evaluated by flow cytometry. The expression of Helios, perforin, granzyme B, immunoglobulin-like transcript 3 (ILT3) and ILT4 at the transcription level was measured by real-time PCR. Concentrations of IL-10 and TGF-β in the culture supernatants of CD8 + CD28 -Treg cells stimulated with activated CD4 + T cells were measured by ELISA. Results:⑴ The proportions of CD8 + CD28 -Treg cells and the expression of Helios in patients with acute KD were higher than those in the control group ( P<0.05), and reduced remarkably after IVIG therapy ( P<0.05). The two afore-mentioned indexes were lower in patients combined with coronary artery lesion (CAL) than in those without coronary artery lesion (NCAL) ( P<0.05). ⑵ Compared with the control group, the patients with acute KD showed increased expression of FasL, PD-1, ICOSL and perforin in CD8 + CD28 -Treg cells ( P<0.05). The concentrations of IL-10 and TGF-β1 in the culture supernatants of CD8 + CD28 -Treg cells from patients with acute KD were lower than those in the control group after stimulation with activated CD4 + T cells ( P<0.05), which restored to some extent after IVIG treatment ( P<0.05). All of the six above-mentioned indexes in the CAL group were found to be lower than those in the NCAL group ( P<0.05). There were slight differences in granzyme B expression between different groups ( P>0.05). (3) In comparison with the healthy controls, the patients with acute KD showed overexpressed co-stimulatory molecules such as CD80 and CD86 on CD14 + cells ( P<0.05) and up-regulated expression of inhibitory molecules ILT3 and ILT4 ( P<0.05), which were restored remarkably after IVIG treatment ( P<0.05). Furthermore, the expression of CD80 and CD86 at protein level increased in the CAL group than in the NCAL group ( P<0.05), while the expression of ILT3 and ILT4 at transcriptional level decreased in the CAL group ( P<0.05). Conclusions:Relative insufficiency and impaired function of CD8 + CD28 -Treg cells might be one of the important factors resulting in immune dysfunction and vascular damage in KD patients.

OBJECTIVETo investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD).

METHODSClinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out.

RESULTSThe probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD).

CONCLUSIONThe primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient.

Acetyl-CoA C-Acetyltransferase ; genetics ; Acetyl-CoA C-Acyltransferase ; deficiency ; genetics ; Amino Acid Metabolism, Inborn Errors ; genetics ; Computational Biology ; Female ; Humans ; Infant ; Male ; Mutation ; Phenotype

Pace of life and work of people is accelerating nowadays, and hospitals keep improving their services, which gives rise to the decoction and delivery service from the third party vendors for traditional Chinese medicine(TCM).Given the quality control standards for the TCM decoction service as issued by Zhejiang and other regions, the systems of supervision and assessment remain incomplete.Authors of the paper introduced a project improvement team, composed of Chinese medicine pharmacy, Chinese medicine experience specialists, vendors of Chinese medicine decoction and express delivery companies, hence establishing a " three-in-one" supervision system of Internet+TCM decoction and delivery service. This practice can optimize the assessment indexes, strengthen the assessment system of assessment transformation and supervision system for patient medication.It proves that the practice contributes to higher quality and safety of TCM decoction and delivery service, improves the ability and level of TCM services, and ensures the medication safety of patients.