The safety of decitabine as bridging treatment before allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with refractory hematological malignancies was evaluated.All 11 cases succeeded in hematopoietic reconstitution.The main adverse reaction was hematological toxicity.Neither did infections occur,nor drug-induced liver damage and renal impairment during decitabine administration.Most cases showed grade Ⅰ-Ⅱ gastrointestinal adverse events.One case was diagnosed as severe acute graft versus host disease and died of intracranial hemorrhage on day 61 after allo-HSCT.The other 10 patients survived.Decitabine bridge is a safe regimen before allo-HSCT in children with refractory hematological malignancies.

Two hundred and seventy two type 2 diabetes mellitus (T2DM) patients with negative anti-thyroid autoantibody were enrolled in Shanxi Provincial People's Hospital from November 2016 to September 2017.According to serum vitamin D levels,patients were classified as serious deficiency of vitamin D group([25(OH)D]＜25 nmol/L,n=119),vitamin D deficiency group (≥25 ～ ＜50 nmol/L,n=124)and normal vitamin D group (≥ 50 nmol/L,n=29).There were significant differences in total T4(P=0.04),TSH (P＜0.01),parathyroid hormone (P=0.03) among these groups (P＜0.05).After adjusting gender,age,BMI,glycosylated hemoglobin (HbA1c) and duration of diabetes,serum 25(OH)D level was negatively correlated with TSH (r=-0.24,P＜0.05).After adjusting gender,age,BMI,duration of diabetes and serum 25(OH)D level,HbA1c level was negatively correlated with free T3 (r=-0.18,P＜0.01) and TSH (r=-0.20,P＜0.01).Multiple linear regression analysis revealed that TSH was correlated with 25(OH) D (β=-0.224,P＜0.01) and HbA1c (β=-0.206,P＜0.01).In conclusion,the serum vitamin D and HbA1c levels are independently correlated with thyroid function in patients with T2DM.

OBJECTIVETo explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.

METHODSThe patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.

RESULTSThe patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.

CONCLUSIONThe microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.

Adult ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosomes ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Intellectual Disability ; genetics ; Karyotype

OBJECTIVETo explore the genetic cause for a child with developmental delay.

METHODSThe karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).

RESULTSThe karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.

CONCLUSIONThe abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Karyotyping ; Mosaicism ; Ring Chromosomes ; Sequence Deletion

Objective To investigate the value of echocardiography for assessing the right ventricular function before and af ter treatment in the patients with pulmonary embolism.Methods Ninety-six patients with pulmonary embolism in our hospital from June 2014 to December 2015 were selected as the research subjects and divided into low-risk group,intermediate-risk group and high-risk group according to the disease severity.The echocardiographic examination was performed before and after treatment in all cases.Results The pulmonary artery systolic pressure after treatment in the low-risk group was lower than that before treatment (P＜0.05).The transverse diameter of right ventricle,transverse diameter of right ventricle and pulmonary artery systolic pressure after treatment in the intermediate-risk group and high-risk group were lower than those before treatment (P＜0.05).The Tei index after treatment in the low-risk group,intermediate-risk group and high-risk group was lower than that before treatment (P＜ 0.05).The right ventricle ejection fraction (RVEF),right ventricular end-systolic volume (RVESV) and right ventricular end-dias tolic volume (RVEDV) in the low-risk group had no statistically significant difference between before and after treatment.RVEF after treatment in the intermediate-risk group and high-risk group was higher than that before treatment(P＜0.05),while RVESV and RVEDV after treatment were lower than those before treatment (P＜0.05).Conclusion Echocardiography can objectively re flect the change situation of right heart function before and after treatment in the patients with pulmonary embolism,and can be used as an evaluation method for the effect of pulmonary embolism treatment.

Objective To investigate the changes of plasma free carnitine (FC) concentrations in preterm infants supplemented with L-carnitine, and to provide a reference for routine preterm infants L-carnitine supplements. Methods A total of 99 preterm infants supplemented with 10 mg/(kg·d) L-carnitine on days 2 and 5 after birth, and 65 full term infants from Department of Neonatology, the Fifth People′s Hospital of Dongguan during July 2014 to December 2015 were recruited in this study , and filter-paper blood spots were collected by heel prick on days 1, 3 and 7. FC was measured using electron spray ionization (ESI) tandem mass spectrometry (MS-MS). Results Concentrations of FC decreased steadily from day 1 to day 7 in full term infants , while it remained the same level during the first week after birth as at birth. Additionally, concentrations of FC were significantly higher in preterm infants than full term infants on day 1 after birth. Conclusions The reasonable L-carnitine supplements may keep the levels of plasma FC at the levels at birth , which is important for fatty acid metabolism in preterm infants.

Chuangxinmycin (CM) from Actinoplanes tsinanensis was an antibiotic discovered by Chinese scientists about 40 years ago. It contains a new heterocyclic system of indole fused with dihydrothiopyran, whose biosynthetic mechanism remains unclear. CM is used as an oral medicine in the treatment of bacterial infections in China. The simple structure makes CM as an attractive candidate of structure modification for improvement of antibacterial activity. Recently, we analyzed the secondary metabolites of Actinoplanes tsinanensis CPCC 200056, a CM producing strain, as a natural CM analogue. We discovered the first natural CM analogue 3-demethylchuangxinmycin (DCM) as a new natural product. Compared to CM, DCM exhibited a much weaker activity in the inhibition of the bacterial strains tested. The finding provides valuable information for the structure-activity relationship in the biosynthesis of CM.

ObjectiveTo evaluate the accuracy and value of the ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of agenesis of the corpus callosum in the newborns.MethodsConventional cerebral ultrasound screening was performed in 8086 newborns admitted to NICU in our hospital from January 2012 to June 2014 and agenesis of the corpus callosum was suspected or conifrmed in 31 newborns. The diagnostic accuracy of ultrasonography was assessed through the com-parison between the results of ultrasonography and MRI.ResultsIn 31 cases with suspected agenesis of the corpus callosum, ultrasonography showed 14 cases of complete agenesis of which 13 cases had the same diagnosis with MRI except one case of partial agenesis, meanwhile, ultrasonography showed 16 cases of partial agenesis of which 15 cases had the same diagnosis with MRI except one case of complete agenesis. One case of abnormal corpus callosum determined by ultrasonography was diagnosed as partial agenesis by MRI. MRI showed there were other brain malformations in 14 cases.ConclusionsUltrasonography and MRI has a high consistency in the diagnosis of agenesis of the corpus callosum in neonates, so the former can be used as a routine screening and the latter can be used as a method of accurate diagnosis. A combination of both has an important role in early diag-nosis and clinical evaluation.

OBJECTIVETo evaluate effectiveness therapeutic regimens for obstructive sleep apnea hypopnea syndrome (OSAHS) children at an acceptable cost.

METHODThis study was performed at Yuying Children's Hospital of Wenzhou Medical University from Mar. 2008 to Dec. 2010. Prospective random number table method was used for the analysis; 60 children with mild OSAHS were divided into Mild OSAHS Montelukast Treatment (MM) group and Mild OSAHS Adenotonsillectomy Treatment (MAT) group. 32 children in MM group were treated with leukotriene receptor antagonists (LTRAs), while 28 children in MAT group were treated with adenotonsillectomy. Also, 58 children with moderate and severe OSAHS were divided into severe OSAHS Montelukast Treatment (SM) group and severe OSAHS Adenotonsillectomy Treatmen (SAT) group. Twenty-two children in SM group were treated with LTRAs, while 36 children in SAT group were treated with adenotonsillectomy. All selected children were evaluated by polysomnography (PSG) and Obstructive Sleep Apnea-18 (OSA-18) items before and after a six-month treatment. Both records were taken and analyzed, surgical complications and the reason for non-remission after operation were also analyzed. Two therapies were compared based on economic consideration and therapeutic effect. Result (1) PSG: A significant change of a significant change of Apnea Hypopnea Index (AHI) was observed in MM group after the treatment (before receiving the treatment 4.56 ± 1. 26, and after receiving the treatment 3. 48 ± 1. 52, t =3. 50, P <0. 05). But for oxygen desaturation Index (ODI) (MM group 2. 18 ± 2. 19, and MAT group 1. 80 ± 2. 34) and Lowest Oxygen satuation (LSaO2) (MM group 91. 66 ± 2. 34, and MAT group 92. 79 ± 2. 18), there was no significant difference in MM group and MAT group after the treatment (ODI, t =0. 65, and LSaO2 t = - 1. 93, P >0. 05). (2) OSA-18 scores: Significant differences were found in sleeping disorder (before 14. 81 ± 6. 28, and after 10. 56 ± 3. 57), the degree of familial stress (before 13. 56 ± 3. 54, and after 8. 97 ± 2. 96), and OSA-18 total scores (before 52. 66 ± 1. 11, and after 42. 56 6. 48) in MM group after the treatment (sleeping disorder Z - 3. 14, the degree of familial stress Z = -4. 50, and OSA-18 total scores Z= -4. 01, P <0. 05). (3) In addition to the cost of drugs, groups with surgical treatment had a larger economic burden than those with LTRAs treatment. (4) Treatment was totally effective for 28 children (88%) in MM group, and 28 children (100%) in MAT group. Meanwhile, treatment also achieved an obvious effect on 2 children (9%) in SM group, and in 35 children (97%) in SAT group. In MAT group, 3 children improved (11%). And in SAT group, 7 children improved (19%), but treatment was found to be ineffective in 1 case (3%). Among those effective and ineffective cases in groups with surgical treatment, there were 9 children with nasal diseases.

CONCLUSION(1) Surgical treatment is recommended as the first choice for children with moderate and severe OSAHS. And for those who also suffer from nasal diseases, treatment combining drugs with surgery is necessary. (2) LTRAs therapy has a good effect for mild OSAHS. Surgery is also recommended when drugs could not achieve any obvious improvement in clinical symptoms of children with mild OSAHS.

Adenoidectomy ; Blood Gas Analysis ; Child ; Cost of Illness ; Humans ; Oxygen ; Polysomnography ; Prospective Studies ; Sleep Apnea, Obstructive ; surgery ; Sleep Wake Disorders ; Tonsillectomy ; Treatment Outcome

Objective Toinvestigateantimicrobialresistanceamonggram-positivecocciinChinain 2013.Methods Retrospectivestudy.FromJune2013toDecember2013,1663consecutiveandnon-repetitive gram-positive cocci were collected from 15 teaching hospitals. The minimal inhibitory concentration ( MIC) of antibacterial agents was determined by agar dilution method. A retrospective study was conducted on rates of resistance to antimicrobial agents. The prevalence of penicillin-resistant Streptococcus pneumoniae ( PRSP) between children and adult patients and the prevalence of methicillin-resistant Staphylococcus aureus (MRSA) between elder group and younger adult patients were compared using chi-square test. Results The prevalence of PRSP in children below 3 years old ( 72. 9%, 51/70 ) was higher than adult patients (55. 2%, 106/192) (χ2 =6. 653,P<0. 05). About 94. 9%(261/275) and (92. 7%,255/275) of S. pneumonia were resistant to erythromycin and clindamycin. All S. pneumoniae strains were susceptible to teicoplanin, vancomycin, linezolid, tigecycline and daptomycin. Penicillin still showed very high activity against Streptococcus spp. β-Hemolytic group. More than 60% of Streptococcus spp.β-Hemolytic group were resistant to erythromycin, clindamycin and tetracyclines. The prevalence of MRSA and methicillin-resistant coagulase-negative Staphylococci(MRCoNS) was 39. 7%(229/576) and 80. 6%(224/278), respectively. The MRSA prevalence ranged from 24. 2% to 70. 0% in different regions. About 52. 6%( 100/190 ) of Staphylococcus aureus from respiratory tract specimens, 38. 5%(40/104)of Staphylococcus aureus from blood samples, and 29. 7%(58/195) of Staphylococcus aureus from wound and pus were resistant to methicillin. The prevalence of MRSA in elder group ( 48. 6%, 84/173 ) was higher than that in younger adult patients (35. 7%, 144/403)(χ2 =8. 322,P <0. 05). The susceptibility rates of MRSA to chloramphenicol and trimethoprim/sulfamethoxazole were 86. 4% ( 244/228 ) and 94. 7% ( 237/228 ) , respectively. Susceptibility rates to gentamycin, erythromycin, clindamycin, tetracyclines, rifampicin and quinolones were ranged from 15. 8% to 59. 6%. All Staphylococci isolates were susceptible to teicoplanin, vancomycin, linezolid, daptomycin and tigecycline. All Enterococcus isolates were susceptible to daptomycin and tigecycline. All E. faecalis ( 158/158 ) and 96. 4% ( 133/138 ) of E. faecium were susceptible to teicoplanin. About 98. 0% ( 150/153 ) of E. faecalis and 97. 1% ( 145/138 ) of E. faecium were susceptible to linezoild. About 45. 8% (70/153) of E. faecalis and 60. 9% (84/138) of E. faecium were resistant to gentamycin with a high concentration. The susceptibility of E. faecalis to all the antibiotics tested exceptchloramphenicolandtetracyclinewashigherthanthatofE.faecium.Conclusions Basedon different age groups and regions, the resistance rates of Gram-positive cocci are different. Teicoplanin, vancomycin, tigecycline, daptomycin, linezolid and tedizolid showed very high activity against Gram-positive cocci. (Chin J Lab Med,2015,38:373-381)