Oligodendrocyte dysfunction in cerebral ischemia and neurodegenerative disorders:the effect of CysLT receptor antagonists / 中国药理学与毒理学杂志

Ischemic stroke is an acute and serious cerebrovascular accident.Neurodegenerative disorders are characterized by progressive degeneration of neu-rons in the central nervous system(CNS),resulting in severe disability and death.Myelin is essential for the health and function of neuronal axons.Oligodendrocytes,the myelinating cells of CNS,are vulnerable to ischemia and neurodegenerative disorders.G protein-coupled receptor 17(GPR17)is a dual receptor activated by uracil nucleotides/cysteinyl leukotrienes(CysLTs).Abnormal GPR17 activation contributes to oligodendrocyte dysfunc-tion and axonal damage.Gelosa et al.reported that CysLT1 receptor antagonist montelukast increased the recruitment and proliferation of oligodendrocyte precursor cells(OPCs)at the acute phase after ischemic stroke.Similarly,a study showed that montelukast stimulated neural progenitor proliferation and hippocampal neuro-genesis of aged rats through inhibition of GPR17.These results were supported by several studies on neurode-generative diseases.The authors showed that pharmaco-logical blockade of GPR17 with CysLT1 or CysLT2 recep-tor antagonists(montelukast or HAMI3379)improved oli-godendrocyte function and fiber connectivity,highlighting GPR17 as a potential therapeutic target in oligodendro-cyte protection and remyelination.Recently,growing evi-dence has revealed a significant interaction between mi-croglia and oligodendrocytes in CNS injury and disease.It was reported that M2 microglia promoted,while M1 microglia inhibited oligodendrogenesis,OPCs maturation and remyelination.Microglia-mediated neuroinflamma-tion,considered as an important pathological event,neg-atively affected OPCs fate and function in experimental neurological disorders.This was further corroborated by later studies.It was recently reported that montelukast enhanced OPCs differentiation and maturation by upreg-ulating the number of M2 microglia at chronic phase of brain ischemia.In line with the above results,inhibition of microglial inflammation by montelukast was shown to be responsible for neurite outgrowth.Although the exact mechanisms were not fully clarified,these results indi-cate that montelukast may indirectly promote OPCs dif-ferentiation and remyelination by a microglia-dependent manner.It has been widely accepted that CysLT1,CysLT2 and GPR17 receptors are localized in various cell types and their expression are upregulated after brain damage.Therefore,it is likely that CysLT receptor antagonists confer neuroprotection by targeting different receptors and multiple cell functions.Many studies have reported that CysLT receptor antagonists promote protec-tion of oligodendrocytes by inhibiting GPR17.Moreover,they may improve OPCs differentiation and neuronal sur-vival by regulating CysLTs-mediated microglial activation.Altogether,these data open novel perspectives in the treatment of cerebral ischemia and neurodegenerative diseases.

Construction of evaluation index system for scientific research ability of hospital pharmacists and analysis of its reliability and validity / 中国药房

OBJECTIVE To construct the evaluation index system for scientific research ability of hospital pharmacists， and provide reference for the improvement of hospital pharmacists’ scientific research ability and the formulation of relevant scientific research policies. METHODS The relevant indexes of scientific research evaluation of hospital pharmacists were extracted by literature analysis， and consultation questionnaire was designed according to Likert grade 5 scoring method. Delphi method was used to conduct two rounds of questionnaire consultation for 28 experts， and the weight of each index was determined by analytic hierarchy process. The reliability and validity of index system were analyzed by questionnaire survey. RESULTS After two rounds of expert correspondence， evaluation index system for scientific research ability of hospital pharmacists was finally determined from three core dimensions： basic scientific research ability， scientific research achievements and transformation ability， academic influence and personnel training （including 11 sub-dimensions and 34 measurement items）. The weight value of each dimension index was determined. The result of reliability and validity analysis confirmed the scientific rationality of the index system. CONCLUSIONS The established evaluation index system for scientific research ability of hospital pharmacists is innovative， comprehensive and scientific. The index system model can provide reference for the improvement of hospital pharmacists’ scientific research ability and the formulation of relevant scientific research policies.

To explore the role of kidney yang in the "transformation of inflammation and cancer" of chronic obstructive pulmonary disease based on "Qi controlling Xu" / 国际中医中药杂志

Chronic obstructive pneumonia cancer transformation refers to the malignant transformation of long-term repeated chronic inflammation of the lung. Traditional Chinese Medicine believes that the etiology and pathogenesis of chronic obstructive pneumonia cancer transformation always belong to the deficiency of origin and excess of signs. Chronic obstructive pulmonary disease causes damage to the qi of the lung, spleen and kidney. Qi is yang, and qi deficiency leads to yang deficiency. Yang deficiency and abnormal warm would result in qi stagnation, phlegm coagulation and blood stasis. It is the key to the transformation of chronic obstructive pneumonia cancer. Kidney yang is the root of yang qi. Deficiency of kidney yang is the initiating factor for the transformation of chronic obstructive pneumonia cancer. Deficiency of lung yang is the fundamental factor for the transformation of chronic obstructive pneumonia cancer. Deficiency of kidney yang and deficiency of spleen yang are the driving factors for the transformation of chronic obstructive pneumonia cancer. Therefore, this article discussed the role of kidney yang in the transformation of chronic obstructive pneumonia cancer from the theory of "Qi Zhu Xu Zhi", in order to broaden the thinking of clinical diagnosis and treatment of the disease.

Embedded 3D printing of porous silicon orbital implants and its surface modification / 南方医科大学学报

OBJECTIVE@#To prepare customized porous silicone orbital implants using embedded 3D printing and assess the effect of surface modification on the properties of the implants.@*METHODS@#The transparency, fluidity and rheological properties of the supporting media were tested to determine the optimal printing parameters of silicone. The morphological changes of silicone after modification were analyzed by scanning electron microscopy, and the hydrophilicity and hydrophobicity of silicone surface were evaluated by measuring the water contact angle. The compression modulus of porous silicone was measured using compression test. Porcine aortic endothelial cells (PAOECs) were co-cultured with porous silicone scaffolds for 1, 3 and 5 days to test the biocompatibility of silicone. The local inflammatory response to subcutaneous porous silicone implants was evaluated in rats.@*RESULTS@#The optimal printing parameters of silicone orbital implants were determined as the following: supporting medium 4% (mass ratio), printing pressure 1.0 bar and printing speed 6 mm/s. Scanning electron microscopy showed that the silicone surface was successfully modified with polydopamine and collagen, which significantly improved hydrophilicity of the silicone surface (P < 0.05) without causing significant changes in the compression modulus (P > 0.05). The modified porous silicone scaffold had no obvious cytotoxicity and obviously promoted adhesion and proliferation of PAOECs (P < 0.05). In rats bearing the subcutaneous implants, no obvious inflammation was observed in the local tissue.@*CONCLUSION@#Poprous silicone orbital implants with uniform pores can be prepared using embedded 3D printing technology, and surface modification obviously improves hydrophilicity and biocompatibility of the silicone implants for potential clinical application.

The Diet, ExerCIse and CarDiovascular hEalth (DECIDE)-Diet study was taken as a case to discuss the methods of blinding and blinding assessment for feeding trials / 中华临床营养杂志

DECIDE-Diet trial was taken as a case to introduce the methods of blinding and blinding assessment for feeding trials, report the details of blinding, conduct a blinding survey and calculate Jame's BI and Bang's BI. Jame's BI was 0.683 (95% CI: 0.593~0.772). The Bang's BI for the intervention group was 0.340 (95% CI: 0.199~0.481), and for the control group was 0.086 (95% CI: -0.060~0.231). The blinding of the DECIDE)-Diet was generally successful, but the intervention group may infer their group to a certain extent. Feeding trials should report the details of blinding and consider blinding assessment.

Rnf20 deficiency in adipocyte impairs adipose tissue development and thermogenesis

RNF20, an E3 ligase critical for monoubiquitination of histone H2B at lysine 120 (H2Bub), has been implicated in the regulation of various cellar processes; however, its physiological roles in adipocytes remain poorly characterized. Here, we report that the adipocyte-specific knockout of Rnf20 (ASKO) in mice led to progressive fat loss, organomegaly and hyperinsulinemia. Despite signs of hyperinsulinemia, normal insulin sensitivity and improved glucose tolerance were observed in the young and aged CD-fed ASKO mice. In addition, high-fat diet-fed ASKO mice developed severe liver steatosis. Moreover, we observed that the ASKO mice were extremely sensitive to a cold environment due to decreased expression levels of brown adipose tissue (BAT) selective genes, including uncoupling protein 1 (Ucp1), and impaired mitochondrial functions. Significantly decreased levels of peroxisome proliferator-activated receptor gamma (Pparγ) were observed in the gonadal white adipose tissues (gWAT) from the ASKO mice, suggesting that Rnf20 regulates adipogenesis, at least in part, through Pparγ. Rosiglitazone-treated ASKO mice exhibited increased fat mass compared to that of the non-treated ASKO mice. Collectively, our results illustrate the critical role of RNF20 in control of white and brown adipose tissue development and physiological function.

Research progress of tertiary lymphoid structure on hepatocellular carcinoma / 中华肝胆外科杂志

Tertiary lymphoid structure (TLS) is the ectopic lymphoid tissue around the chronic inflammatory site of tumor, infection diseases, autoimmunity diseases, organ transplantation and so on. TLS is regarded as the vital niche of antitumor immune response in tumor microenvironment for abundant immune cells, and is correlated with better clinical outcomes and immunotherapy response in most solid tumors. As a typical inflammation-driven cancer, hepatocellular carcinoma (HCC) is controversial with the influence of TLS on patients prognosis. In this paper, the composition, formation mechanism, recognition and clinical value of TLS in HCC were briefly reviewed.

Serum metabolomic profiling reveals potential biomarkers in assessing the management of women with polycystic ovary syndrome: a randomized controlled trial / 中华医学杂志(英文版)

BACKGROUND@#As one of the most common endocrinal disorders for women at childbearing age, the diagnostic criteria of polycystic ovary syndrome (PCOS) have been defined differently among different international health organizations. Phenotypic heterogeneity of PCOS also brings about difficulties for its diagnosis and management assessment. Therefore, more efficient biomarkers representing the progression of PCOS are expected to be integrated into the monitoring of management process using metabolomic approaches.@*METHODS@#In this prospective randomized controlled trial, 117 PCOS patients were enrolled from December 2016 to September 2017. Classical diagnostic parameters, blood glucose, and metabolome were measured in these patients before and at 2 months and 3 months of different medical interventions. The receiver operating characteristic (ROC) curves were built based on multivariate statistical analysis using data at baseline and 3 months' management, and combinational biomarkers with appreciable sensitivity and specificity were selected, which then validated with data collected at 2 months.@*RESULTS@#A set of metabolites including glutamic acid, aspartic acid, 1-methylnicotinamide, acetylcarnitine, glycerophosphocholine, and oleamide were filtered out with high performance in representing the improvement through 3-month management of PCOS with high sensitivity and specificity in ROC analysis and validation with other two groups showed an appreciable area under the curve over 0.96.@*CONCLUSIONS@#The six metabolites were representative of the remission of PCOS through medical intervention, making them a set of potential biomarkers for assessing the outcome of PCOS management.@*TRIAL REGISTRATION@#ClinicalTrials.gov, NCT03264638.

Brain Imaging Study on the Pathogenesis of Depression & Therapeutic Effect of Selective Serotonin Reuptake Inhibitors

Objective@#Predefining the most effective treatment for patients with depressive disorders remains a problem. We will examine the differential brain regions of gray matter (GM) in major depressive disorder (MDD) patients and the relationship between changes in their volume and the efficacy of early antidepressant treatment using magnetic resonance imaging (MRI). @*Methods@#159 never-medicated patients with first-episode MDD and 53 normal control subjects (NCs) were enrolled. The brains were scanned by MRI and measured with the 17-item Hamilton Depression Rating Scale (HAMD-17) at baseline and after 2 weeks of treatment with selective serotonin reuptake inhibitor (SSRI)s, and the non-responder group and responder group were obtained. The patients were analyzed by voxel-based morphological (VBM) and SPSS software. Receiver operator characteristics (ROC) analysis was performed for the difference between the responder group and the non-responder group in the differential brain regions, and Pearson correlations were computed between volume size and HAMD score reduction rate. @*Results@#Smaller GM volume of the right superior temporal gyrus (STG), and the orbital parts of the right medial frontal gyrus and right inferior frontal gyrus were observed in MDD versus the NCs. The non-responder group demonstrated a significant volume reduction at the right STG compared with the responders, but no corresponding change in orbital part of right medial frontal gyrus and right inferior frontal gyrus. ROC analysis showed that Accuracy=71.2%. There was a positive correlation between the STG gray matter volume and the HAMD-17 score reduction rate (r=0.347, p=0.002). @*Conclusion@#The study results confirmed the local changes in brain structure in MDD and may initially predict the early treatment response produced by SSRIs as antidepressants.

Comparison of efficacy of quadruple regimen with different doses of esomeprazole magnesium in the treatment of helicobacter pylori infection gastritis / 中国基层医药

Objective:To compare the efficacy of quadruple regimens with different doses of esomeprazole magnesium in the eradication of helicobacter pylori (Hp) infection gastritis.Methods:From September 2016 to October 2018, the clinical data of 100 patients with Hp infection gastritis in Yuncheng Central Hospital were retrospectively analyzed.All patients received esomeprazole magnesium based quadruple scheme, and according to the different dosage of esomeprazole magnesium, the patients were divided into two groups: control group ( n=50) received standard dose of 20 mg, study group ( n=50) received a high dose of 40 mg.The Hp eradication rate, incidence of adverse reactions, the overall curative effect and the recurrence rate were compared between the two groups. Results:The eradication rate of Hp in the study group (98.0%) was higher than that in the control group (84.0%) (χ 2=4.396, P=0.036). The overall effective rate of gastritis in the study group (96.0%) was higher than that in the control group (2.0%) (χ 2=5.005, P=0.025), and the recurrence rate in the study group (0.0%) was lower than that in the control group(12.0%) (χ 2=4.433, P=0.035). The incidence of adverse reactions in the study group (12.0%) was not significantly different from that in the control group (6.0%) (χ 2=0.488, P=0.485). Conclusion:The quadruple regimen with high dose of esomeprazole magnesium has better effect on the eradication of Hp infection gastritis with strong eradication, and it is safe and reliable, so it is recommended to promote.

Mutual prediction of peer relationship and internalizing problem of preschool children / 中国学校卫生

Objective@#To investigate the mutual prediction relationship between peer relationship and internalizing problem.@*Methods@#One-year follow up survey was conducted with a sample of 220 preschool children from 4 kindergartens in Shandong province. The quality of peer relationship and degree of internalizing problem were evaluated with the Peer Relationship Scale and the Child Behavior Checklist Cross-lagged panel analysis was used for mutual prediction among variables.@*Results@#The quality of preschool children’s peer relationship showed an increasing trend with grade(F=6.40, 4.81, P<0.01), while the degree of internalizing problem showed a downward trend(F=7.65, 5.46, P<0.01). The predictive effect of pre-test peer relationship and internalizing problem on post-test corresponding behaviors were all statistically significant (β=0.56, 0.49, P<0.01). The predictive effect of pre-test peer relationship on post-test internalizing problem was statistically significant(β=-0.19, P<0.05).@*Conclusion@#Both peer relationship and internalizing problem has a certain stability across time, and early peer relationship and internalizing problem could predict later corresponding behaviors. Early peer relationship can predict later internalizing problem, while early internalizing problem cannot predict later peer relationship.

An acute myeloid leukemia case with concurrent 11q23 anomaly and D13S319 deficiency diagnosed by combined inter- and metaphase fluorescence in situ hybridization / 中华医学遗传学杂志

Objective@#To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion.@*Methods@#G+ R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments.@*Results@#The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13.@*Conclusion@#Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del (13)(q14), -13 or der (13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.

An acute myeloid leukemia case with concurrent 11q23 anomaly and D13S319 deficiency diagnosed by combined inter- and metaphase fluorescence in situ hybridization / 中华医学遗传学杂志

OBJECTIVE@#To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion.@*METHODS@#G+R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments.@*RESULTS@#The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13.@*CONCLUSION@#Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del(13)(q14), -13 or der(13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.

The establishment and preliminary verification of a risk model for the prediction of diabetic retinopathy in patients with type 2 diabetes / 中华眼底病杂志

Objective To establish an appropriate diabetic retinopathy (DR) risk assessment model for patients with type 2 diabetes mellitus (T2DM).Methods A retrospective clinical analysis.From January 2016 to December 2017,753 T2DM patients in the Third Affiliated Hospital of Southern Medical University were analyzed retrospectively.Digital fundus photography was taken in all patients.Fasting plasma glucose (FPG),HbA1c,total bilirubin (TB),blood platelet,total cholesterol (TC),triglyceride (TG),high density lipoprotein cholesterol (HDL-c),low density lipoprotein cholesterol (LDL-c),apolipoprotein-A (apoA),apolipoprotein-B (apoB),serum creatinine,blood urea nitrogen (BUN),blood uric acid,fibrinogen (Fg),estimated glomerular filtration (eGFR) were collected.The patients were randomly assigned to model group and testify group,each had 702 patients and 51 patients respectively.Logistic regression was used to screen risk factors of DR and develop an assessment scale that can be used to predict DR.Goodness of fit was examined using the Hosmer-Lemeshow test and the area under the receiver operating characteristic (ROC) curve.Results Among 702 patients in the model group,483 patients were DR,219 patients were NDR.The scores for DR risk were duration of diabetes ≥4.5 years,4 points;total bilirubin ＜6.65 mol/L,2 points;apoA≥ 1.18 g/L,2 points;blood urea≥6.46 mmol/L,1 points;HbA1c ≥7.75％,2 points;HDL-c＜ 1.38 mmol/L,2 points;diabetic neplropathy,3 points;fibrinogen,1 point.The area under the receiver operating characteristic curve was 0.787.The logistic regression analysis showed that the risk factors independently associated with DR were duration of diabetes (β=1.272,OR=3.569,95％CI 2.283-5.578,P＜0.001),TB (β=0.744,OR=2.104,95％CI 1.404-3.152,P＜0.001,BUN (β=0.401,OR=1.494,95％CI 0.996-2.240,P=0.052),HbA1c (β=0.545,OR=1.724,95％CI 1.165-2.55,P=0.006),HDL-c (β=0.666,OR=1.986,95％CI 1.149-3.298,P=0.013),diabetic nephropathy (β=1.151,OR=3.162,95％CI2.080-4.806,P=0.013),Fg (β=0.333,OR=1.396,95％CI 0.945-2.061,P=0.094).The risk model was P=1/[1+exp-(-3.799+1.272X1+0.744X2+0.769X3+0.401X4+0.545X5+0.666X6+1.151X7+0.333X8)].X1=duration of diabetes,X2=TB,X3=apoA,X4=BUN,X5=HbA1c,X6=HDL-c,X7=diabetic nephropathy,X8=Fg.The area under the ROC curve was 0.787 and the Hosmer-Lemeshow test suggested excellent agreement (x2=10.125,df=8,P=0.256) in model group.The area under the ROC curve was 0.869 and the Hosmer-Lemeshow test suggested excellent agreement (x2=5.345,df=7,P=0.618) in model group.Conclusion The area under the ROC curve for DR was 0.787.The duration of diabetes,TB,BUN,HbAlc,HDL-c,diabetic nephropathy,apoA,Fg are the risk factors of DR in T2DM patients.

Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genotype-phenotype correlation among 18 patients with 21-hydroxylase deficiency (21-OHD).@*METHODS@#PCR-Sanger sequencing was used to analyze the 10 exons and flanking regions of the CYP21A2 gene among the 18 patients and 20 healthy controls.@*RESULTS@#Seventeen patients had variants of the CYP21A2 gene. Eight patients (44.4%, 8/18) carried homozygous variants including p.Ile 173Asn (62.5%, 5/8), p.Pro31Leu (25.0%, 2/8), and IVS2-13A/C>G (12.5%, 1/8), respectively. Six patients (33.3%, 6/18) carried compound heterozygous variant, among which IVS2-13 A>G+p.Ile 173Asn were most common (50.0%). 94.4% (34/36) of the variant were pathogenic, with the most common variants being p.Ile173Asn (41.7%), IVS2-13A/C>G (19.4%), and p.Ile173Asn (7.5%). No variant was identified among the 20 healthy controls.@*CONCLUSION@#The majority of 21-OHD patients carried CYP21A2 gene variants in homozygous or compound heterozygous forms, among which the p.Ile173Asn was the most common one. There is a strong correlation between the genotypes and clinical phenotypes.

Application effect of gastroscopic hemostasis combined with limited fluid resuscitation in the treatment of upper gastrointestinal bleeding in patients with liver cirrhosis / 中国基层医药

Objective@#To evaluate the effect of gastroscopic hemostasis combined with limited fluid resuscitation in the treatment of upper gastrointestinal bleeding in patients with liver cirrhosis.@*Methods@#From December 2016 to June 2018, 100 liver cirrhosis patients with upper gastrointestinal bleeding in Yuncheng Central Hospital were divided into control group(n=50) and observation group(n=50) according to non-randomized non-inferiority.The control group was treated with limited fluid resuscitation, and the observation group was treated with gastroscopic hemostasis combined with limited fluid resuscitation.The therapeutic effects of the two groups were compared.@*Results@#The recovery rate, 24-hour hemostasis rate of the observation group were 98.00%(49/50), 68.00%(34/50), respectively, which were higher than those of the control group [82.00%(41/50), 16.00%(8/50)], and the clinical mortality rate of the observation group was 2.00%(1/50), which was lower than 16.00%(8/50) of the control group, the differences were statistically significant(χ2=5.444, 25.657, 4.396, all P<0.05). The time of hemostasis, ventilator detachment and ICU detachment in the observation group were shorter than those in the control group[(1.34±0.28)d vs.(2.05±0.43)d, (1.68±0.42)d vs.(2.59±0.51)d, (2.85±0.72)d vs.(5.19±1.03)d], the differences were statistically significant(t=9.784, 9.739, 13.166, all P<0.001). The incidence of complications, rehaemorrhage rate within 6 months in the observation group were 4.00%(2/50), 2.00%(1/50), respectively, which were lower than those in the control group [22.00%(11/50), 16.00%(8/50)], the differences were statistically significant(χ2=5.659, 4.396, all P<0.05).@*Conclusion@#Gastroscopic hemostasis combined with limited fluid resuscitation in the treatment of upper gastrointestinal bleeding in patients with liver cirrhosis has significant therapeutic effect, high hemostasis rate and few complications.

Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency / 中华医学遗传学杂志

Objective@#To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD).@*Methods@#Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees.@*Results@#Gene sequencing has identified a homozygous c. 985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c. 1459_1467del9 (p.D487_F489del) and c. 1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c. 985_987delTACinsAA(Y329Kfs) mutation.@*Conclusion@#Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c. 985_987delTACinsAA(Y329Kfs) is the most common. The c. 1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.

Approach to the patient with pancytopenia secondary to panhypopituitarism after craniopharyngioma surgery / 中华内分泌代谢杂志

Craniopharyngioma is the most common benign intracranial tumor in children. The major post-operative complication is dysfunction of pituitary, which can result in many complicate clinical manifestations with hormonal deficiencies. Normochromic anemia has been reported as a common hematologic abnormality. However, pancytopenia is rarely reported so far. Here we describe a 21-year-old inpatient with the main complaint of nasal bleeding, who accepted craniopharyngioma surgery 9 years ago. Laboratory tests showed pancytopenia secondary to panhypopituitarism. This paper aims to increasing the awareness of this disease and accumulating clinical experiences for the clinicians.

Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic variants in 5 sporadic patients and two Chinese pedigrees affected with 17-hydroxylase deficiency (17-OHD).@*METHODS@#Peripheral blood samples were collected with informed consent. Variants of CYP17A1 gene were screened by PCR and Sanger sequencing. Suspected mutations were validated in other members of the pedigrees.@*RESULTS@#Gene sequencing has identified a homozygous c.985_987delTACinsAA (Y329Kfs) mutation in exon 6 of the CYP17A1 gene in 4 patients and the sister of case 3. Case 1 was found to harbor compound heterozygous mutations c.1459_1467del9 (p.D487_F489del) and c.1244-3C>A. The parents and brother of cases 2 and 5 were heterozygous carriers of a c.985_987delTACinsAA(Y329Kfs) mutation.@*CONCLUSION@#Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c.985_987delTACinsAA(Y329Kfs) is the most common. The c.1244-3C>A is a novel mutation. Above results have facilitated genetic counseling for the affected families.

Craniocerebral ultrasonography in evaluation on correlation between brain development with gestational age and birth weight of neonatal brain / 中国医学影像技术

Objective To explore the value of craniocerebral ultrasonography in evaluation on neonatal brain development.Methods Totally 135 newborns were collected in neonatal intensive care unit.The sagittal length of the corpus callosum and the sagittal length of the cerebellar vermis were measured on the day of birth.The impact of gestational age and birth weight on the development of the corpus callosum and cerebellar vermis were analyzed.Results The mean sagittal length of corpus callosum at birth in premature infants and term infants was (39.18 ± 2.53) mm and (41.62 ± 3.28) mm,respectively (t =4.87,P＜0.05).The sagittal length of cerebellar vermis in premature infants and term infants was (19.03 ±2.00)mm and (20.91 ±2.29)mm,respectively (t=5.05,P＜0.05).The length of the corpus callosum was positively correlated with gestational age and birth weight (rs =0.45,0.51,both P ＜ 0.05),while the sagittal length of cerebellar vermis was positively correlated with gestational age and birth weight (rs =0.42,0.46,both P＜0.05).The length of the corpus callosum was positively correlated with the length of cerebellar vermis (rs =0.43,P ＜0.05).Conclusion Craniocerebral ultrasonography can be used to dynamically observe the neonatal intracranial structure and the development of corpus callosum and cerebellar vermis,therefore providing reliable references for clinical intervention.