Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis / 中华医学杂志(英文版)

BACKGROUND@#Previous research demonstrated that a homozygous mutation of g.136372044G>A (S12N) in caspase recruitment domain family member 9 ( CARD9 ) is critical for producing Aspergillus fumigatus -induced ( Af -induced) T helper 2 (T H 2)-mediated responses in allergic bronchopulmonary aspergillosis (ABPA). However, it remains unclear whether the CARD9S12N mutation, especially the heterozygous occurrence, predisposes the host to ABPA.@*METHODS@#A total of 61 ABPA patients and 264 controls (including 156 healthy controls and 108 asthma patients) were recruited for sequencing the CARD9 locus to clarify whether patients with this heterozygous single-nucleotide polymorphisms are predisposed to the development of ABPA. A series of in vivo and in vitro experiments, such as quantitative real-time polymerase chain reaction, flow cytometry, and RNA isolation and quantification, were used to illuminate the involved mechanism of the disease.@*RESULTS@#The presence of the p.S12N mutation was associated with a significant risk of ABPA in ABPA patients when compared with healthy controls and asthma patients, regardless of Aspergillus sensitivity. Relative to healthy controls without relevant allergies, the mutation of p.S12N was associated with a significant risk of ABPA (OR: 2.69 and 4.17 for GA and AA genotypes, P = 0.003 and 0.029, respectively). Compared with patients with asthma, ABPA patients had a significantly higher heterozygous mutation (GA genotype), indicating that p.S12N might be a significant ABPA-susceptibility locus ( aspergillus sensitized asthma: OR: 3.02, P = 0.009; aspergillus unsensitized asthma: OR: 2.94, P = 0.005). The mutant allele was preferentially expressed in ABPA patients with heterozygous CARD9S12N , which contributes to its functional alterations to facilitate Af -induced T H 2-mediated ABPA development. In terms of mechanism, Card9 wild-type ( Card9WT ) expression levels decreased significantly due to Af -induced decay of its messenger RNA compared to the heterozygous Card9S12N . In addition, ABPA patients with heterozygous CARD9S12N had increased Af -induced interleukin-5 production.@*CONCLUSION@#Our study provides the genetic evidence showing that the heterozygous mutation of CARD9S12N , followed by allele expression imbalance of CARD9S12N , facilitates the development of ABPA.

Evidence summary for the management of insulin injection-related sharps waste disposal in patients with diabetes mellitus / 中国实用护理杂志

Objective:To retrieve and summarize the best evidence related to the management of insulin injection-related sharps waste disposal in diabetic patients at home and abroad, so as to provide reference for clinical healthcare professionals.Methods:This was a evidence-based research. Evidence on insulin injection-related sharps waste management in patients with diabetes, including guidelines, expert consensus, evidence summaries, best practice information sheet, recommended practices, clinical decisions and systematic reviews was systematically searched from domestic and international databases and professional websites, and the search time frame was from the establishment of the database to December 2021. Evidence was extracted and summarized following a quality evaluation of the literature that met the criteria.Results:A total of 15 papers were included, summarizing 25 pieces of best evidence on four areas including risk assessment and management of sharps waste associated with insulin injections, education and training, and the use of safe devices and sharps containers.Conclusions:Best evidence on the management of insulin injection-related sharps waste disposal provides evidence to support clinical practice for healthcare professionals to standardized sharps waste disposal practices in patients with diabetes.

Effect of intradermal needling combined with oral motor therapy for salivation in children with cerebral palsy: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the effect of combination of intradermal needling with oral motor therapy and simple oral motor therapy on salivation in children with cerebral palsy.@*METHODS@#A total of 60 children with salivation in cerebral palsy were randomized into an observation group and a control group, 30 cases in each group. The observation group was treated with intradermal needling (kept for 24 hours each time at Jiache [ST 6], Dicang [ST 4], tongue three needles, etc. ) and oral motor therapy, while the control group was only given oral motor therapy. The intradermal needling was performed 3 times a week, and oral motor therapy was performed 5 times a week, 4 weeks as a course, totally 3 courses of treatment were required. The classification of teacher drooling scale (TDS), drooling severity and Kubota water swallow test, dysphagia disorders survey (DDS) score were compared before treatment and after 4, 8 and 12 weeks of treatment in both groups, and the clinical efficacy was evaluated.@*RESULTS@#After 8 weeks of treatment in the observation group and after 12 weeks of treatment in the two groups, the classification of TDS and drooling severity were improved (P<0.05), and the observation group was better than the control group after 12 weeks of treatment (P<0.05). After 8 and 12 weeks of treatment, the DDS scores of oral period in the observation group were lower than those before treatment (P<0.05). The total effective rate in the observation group was 83.3% (25/30), which was higher than 53.3% (16/30) in the control group (P<0.05).@*CONCLUSION@#The combination of intradermal needling with oral motor therapy can improve salivation symptoms and swallowing function in children with cerebral palsy, the effect is better than oral motor therapy alone, and the effect is earlier.

Qualitative study on the causes of improper disposal of discarded insulin pen needles in diabetic patients at home / 中国实用护理杂志

Objective:To understand the causes of improper disposal of discarded insulin pen needles at home in diabetic patients.Methods:Using descriptive phenomenological research method, semi-structured interviews were conducted in November 2021 with 18 patients with diabetes from the outpatient department of Shanghai University of Medicine & Health Sciences Affiliated Sixth Peoples Hospital South Campus (Shanghai Fengxian District Central Hospital), and Colaizzi seven-step analysis method was used to extract the themes.Results:The reasons for improper disposal of discarded insulin pen needles at home by diabetic patients included misconceptions about methods for safe disposal of needles, low awareness of safe disposal of needles, fear of needle stick injuries, lack of social support, time and distance conflict and economic burden.Conclusions:Medical staff should pay attention to health education to increase patients′ knowledge about safe disposal of needles. The collection program was optimized to alleviate patients′ fear of safe disposal of needle. At the same time, multiple support should be given to improve patients′ compliance with safe disposal of needle.

Case report of Bainbridge-Ropers syndrome caused by ASXL3 mutation / 中华实用儿科临床杂志

The clinical data of a child with Bainbridge-Ropers syndrome in Qingdao Women and Children′s Hospital was retrospectively analyzed.A 26-day old female presented with no weight gain, more sleep, mild feeding difficulty and low muscle tension.A novel nonsense mutation (c.3464c > A) was found in ASXL3 gene through whole exon sequencing, namely a pathogenic mutation, and has not been reported at home and abroad.At the age of 6 months, special facial features were obvious, with claw-shaped hands and bilateral wrists deviated to ulnar side.Follow-up revealed that psychomotor development is retarded.

Long term follow-up and efficacy of continuous subcutaneous insulin infusion in the treatment of children with type 1 diabetes mellitus in Qingdao / 中华实用儿科临床杂志

Objective:To study the effect of continuous subcutaneous insulin infusion (CSII) in the long-term treatment of type 1 diabetes mellitus (T1DM) children, to analyze the factors influencing the efficacy, and to provide theoretical guidance for the application of CSII in long-term therapy and follow-up management.Method:A total of 60 T1DM children who were under 18 years old, lived in Qingdao for a long time, had CSII for more than 6 months, and visited the Outpatient Department of Endocrinology of Qingdao Women and Children′s Hospital for a long term from January 2019 to June 2019 were followed up with questionnaires to understand their general condition and treatment-related data.Result:After the CSII therapy, the hemoglobin A1c (HbA1c) of T1DM children significantly decreased from (9.58±2.08)% to (7.12±1.11)% ( t=7.315, P<0.05), the daily insulin dosage per unit weight significantly declined from 0.91(0.86, 0.94) IU to 0.80 (0.66, 0.88) IU ( Z=-5.514, P<0.05), and the frequency of both hypoglycemia and ketoacidosis was significantly reduced.Diet control, daily exercise time, the visit frequency and the self-monitoring frequency of blood glucose affected the curative effect of CSII therapy (all P<0.05). Conclusion:CSII therapy can effectively control the blood glucose of children with T1DM in Qingdao area, significantly lower HbA1c, and reduce the insulin dosage and the incidence of hypoglycemia and ketoacidosis.Good diet control, regular exercise, regular follow-up and a high frequency of blood glucose monitoring are associated with better glycemic control.

Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome

Background:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics: A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin. Outcome: Whole-exomesequencing identified a novel nonsensemutation. Message: We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.

The role and action mechanism of signaling proteins in the occurrence and development of neuroblastoma / 国际药学研究杂志

Neuroblastoma(NB)is the most common extracranial solid tumor derived from the sympathetic ner- vous system in childhood. The location of NB is variable, the pathogenesis is complex and the clinical manifestations vary greatly. The prognosis is good in low or medium risk NB patients but bad in high risk NB patients. Recent studies have shown that the occurrence, growth, proliferation, migration and invasion of NB as well as the prognosis of NB pa- tients are associated with the abnormal expression of signaling proteins in NB, including the transcriptional regulators, kinases, and receptors, etc.. This article reviews the role and action mechanism of different signaling proteins in the oc- currence and development of NB.

Update of diagnosis and treatment for congenital hypogonadotropic hypogonadism / 国际儿科学杂志

Congenital hypogonadotropic hypogonadism,mainly characterized by absence of puberty and infertility,is a disorder due to deficient production,secretion or activity of gonadotropin-releasing hormone or gonadotropins.Multiple causative genes have been found till now,and other factors like environmental endocrine disruptors also participate in promoting the disease at the same time.Common diseases in this category are Kall-mann syndrome,Prader-Willi syndrome and multiple pituitary hormone deficiency.Neonatal period and early in-fancy are golden time for diagnosis of the disorder.Constitutional growth delay of puberty should be considered in the differential diagnosis for adolescent patients.Therapeutic schedule should be selected according to age, gender and demand for fertility.The treatment can be sexual hormone replacement,gonadotropin therapy and pul-satile pump gonadotropin-releasing hormone.A timely diagnosis and treatment can induce and maintain second sexual characteristics,enhance the male spermatogenesis and female ovulation and reduce psychological problems caused by the disorder.This article is to review the update in diagnosis and treatment of the disorder.

Effects of corticotropin releasing factor on dendritic development of hippocampal neurons / 国际药学研究杂志

Stress exerts profound effects on cognitive and emotional functions. As a regulator of response to stress, the corticotropin releasing factor (CRF) during stress impacts organism function through hypothalamic-pituitary-adrenal axis. Recent research has shown that dendritic branches were abnormal and dendritic spine was lost under stress. In contrast, stressed mice with CRF receptor 1 (CRFR1) deficiency or CRFR1 antagonist exhibited normal dendritic morphology of hippocampal neurons. The structure and related factors expression of hippocampal neurons were affected by CRFR1 as a G protein-coupled receptor (GPCR), but the molecular mechanism about CRF-induced direct injury effect on hippocampal neurons has been poorly understood. The paper reviews the research progress on the contribution of stress activated CRF-CRF receptor signaling to the structure and related factors of hippocampal neurons.

Expression pattern of hsa-miR-9 and its association with BCL6 in EBV-positive and EBV-negative Burkitt lymphoma cell lines / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the differential expression pattern of hsa-miR-9 between EBV-positive and -negative Burkitt lymphoma cell lines and its association with BCL-6.</p><p><b>METHODS</b>The expression of hsa-miR9 and BCL-6 mRNAs in EBV(+) Raji and EBV-Ramous cells in mRNA levels were detected using fluorescence quantitative PCR (QRT-PCR). The two cells lines were transiently transfected with hsa-mir9-inhibitor and hsa-mir9-minicsvia Oligofectamine 2000, and the changes in BCL6 expressions was detected using QRT-PCR and Western blotting. Annexin V/PI staining was used to analyze the apoptosis and morphological changes of the transfected cells.</p><p><b>RESULTS</b>The expression of Hsa-miR9 and BCL-6 was significantly higher in EBV(+) Raji cells than EBV(-) Ramous cells (P<0.01). BCL-6 mRNA and protein expression was reduced in EBV(+) Raji cells after transfection with hsa-miR9-inhibitor but up-regulated in EBV(-) Ramous cells transfected with hsa-miR9-minics. Flow cytometry revealed a significantly decreased apoptosis rate in EBV(+) Raji cells transfected with hsa-miR9-inhibitor but an increased rate in EBV(-) Ramous cells transfected with hsa-miR9-minics, and the results were confirmed by microscopic observations.</p><p><b>CONCLUSION</b>Hsa-miR9 positively regulate the expression of BCL-6 and apoptosis of EBV(+) Raji cells and EBV(-) Ramous cells.</p>

Expression of miR-9 in H/RS cells and its regulation on target PRDM1 / 白血病·淋巴瘤

Objective To explore the expression of miR-9 in H/RS cells and its regulation on target PRDM1.Methods miR-9 expression in normal CD19+ B-cell subsets and eight lymphoma cell lines was detected by fluorescence quantitative RT-PCR and in situ hybridization (ISH),for quantification and location,respectively.Chemically synthesizcd antisense oligonucleotide of miR-9 was transiently transfected into L428 for its silence,and the PRDM1 expression was tested.Results Fluorescence quantitative RT-PCR showed that the expression of miR-9 in L428 cells was marked higher than that of normal CD19+ B-cell subsets and other lymphoma cell lines (the expression of miR-9 in L428 cells was 47-fold of OCI-Ly1,50-fold of Raji cells,7-fold of EBV+ immortalized B cell line,and 6-fold of ALCL cell line).ISH indicated that miR-9 located in cytoplasm,it was a diffuse and strong positive in L428,scattered and weak in DLBCL and Burkitt' s lymphoma cell lines,while negative in KARPAS-299 or Jurkat cell lines.Transient down-regulation of miR-9 in L428 leded to the increase of PRDMI protein.Conclusion miR-9 plays the role of cancer gene in cHL,and may exert a potential function in regulating terminal B cell differentiation through a post transcription regulation of PRDM1 gene.

Pneumonia relevant to lung transplantation and pathogen distribution / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Pneumonia is the most common cause of morbidity and mortality in lung transplant (LT) recipients. The aim of the present study was to evaluate the incidence, etiology, risk factors and prognosis of pneumonia in LT recipients.</p><p><b>METHODS</b>The LT cohort consisted of 28 recipients receiving LT in Beijing Chao-Yang Hospital from August 2005 to April 2011. Data collected included demographic data, underlying disorders, time and type of transplant, follow-up information, date of last follow-up, and patient status. A retrospective analysis was made of observational data that were prospectively collected.</p><p><b>RESULTS</b>Twenty-two patients of 28 LT recipients had 47 episodes of pneumonia throughout the study period. Thirtyeight episodes of pneumonia in 19 recipients occurred post-LT with a median follow-up of 257.5 days (1-2104 days), the incidence of pneumonia was 192.4 episodes per 100 LT/year and its median time of onset was 100.5 days (0-946 days) post-transplantation. Bacteria, virus and fungi accounted for 62%, 16% and 15% of the microbial pathogens, respectively. The most frequent were Pseudomonas aeruginosa (20%), cytomegalovirus (CMV) (15%), and Aspergillus fumigatus (10%). A total of 29% (11/38) of pneumonias occurred in the first month post-LT, and then the incidence decreased gradually. The incidence of CMV pneumonia was 25% (7/28) with a median time of 97 days (10-971 days). More than one bacterial infection and CMV infection were independent risk factors for aspergillus infection. The incidence of pulmonary tuberculosis (TB) was 18% (5/28), and the history of TB was a risk factor for TB relapse. There were 58% (7/12) of recipients who died of infection, and 71% (5/7) of these died in the first year after LT.</p><p><b>CONCLUSIONS</b>Pneumonia is still a major cause of morbidity and mortality in LT recipients. The most frequent microorganisms were Pseudomonas aeruginosa, CMV, and Aspergillus fumigates. The incidence of CMV pneumonia decreases with a delayed median time of onset. More than one incidence of bacterial infection and CMV infection are independent risk factors for aspergillus infection. LT recipients are at high risk for TB, and the history of TB is a risk factor for TB relapse.</p>

Side population cells of thyroid gland: Research progress / 第二军医大学学报

Side population (SP) cells are highly enriched for stem cell activity and characterized by their ability to efflux the vital dye Hoechst 33342, because they express the ATP binding cassette (ABC)-dependent transporter ABCG2. SP cells can be selected from main population using flow cytometric analysis. Currently SP cells have been isolated from many tissues and organs. SP cells of different origins have some common characteristics. This article introduces the classifications, surface marker, and characteristics of SP cells.

Diagnosis and treatment of ovotesticular disorders of sex development in children / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the diagnosis and treatment of ovotesticular disorders of sex development (DSD) in children.</p><p><b>METHODS</b>We reviewed the clinical data of 9 cases of ovotesticular DSD admitted in our department from 1988 to 2007.</p><p><b>RESULTS</b>The patients ranged in age from 9 months to 9 years, 7 raised as males and 2 as females. As for the karyotype, 4 cases were 46,XX, 2 were 46,XX/46,XY, 1 was 46,XY, and the other 2 had no karyotype data. All of them presented with obscure external genitalia: perineal or penoscrotal hypospadias with or without cryptorchidism in males and hypertrophy of the clitoris in females. They were diagnosed with ovotesticular DSD by gonad biopsy and underwent genitoplasty.</p><p><b>CONCLUSION</b>The gender assignment of the ovotesticular DSD patient was chiefly based on the development of external genitalia, dominant gonad, karyotype and the parent's will. Laparoscopic technology is recommended in gonad biopsy and orchiopexy during the treatment of ovotesticular DSD.</p>

Induction of apoptosis and inhibition of HL-60 cell proliferation by survivin antisense oligonucleotide / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the effects of survivin antisense oligonucleotide (ODN) on cell proliferation and apoptosis of HL-60 cells.</p><p><b>METHODS</b>Synthetic ODN was completely phosphorothioate-modified. Cationic lipid-mediated antisense ODN was transferred into HL-60 cells. The expression of survivin mRNA and protein was detected by RT-PCR and Western Blot. The incorporation of MTT was used as the measurement of HL-60 proliferation. The cell-cycle and apoptosis were analyzed by flow cytometry.</p><p><b>RESULTS</b>HL-60 cells spontaneously expressed survivin mRNA and protein. Both mRNA and protein expression of survivin decreased significantly in the antisense ODN transfected cells in comparison to that in the original cells and cells transfected with sense ODN. Survivin antisense ODN significantly inhibited cell proliferation and induced apoptosis in a dose-dependent manner. The cell-cycle in the antisense ODN-transfected cells stopped at the G2/M phase.</p><p><b>CONCLUSIONS</b>Antisense ODN targeting at survivin mRNA can inhibit HL-60 cell proliferation and induce G2/M stop and apoptosis.</p>