Objective To analyze the clinical characteristics of acquired cytomegalovirus infection in extremely preterm infants.Meth-ods The detection results of cytomegalovirus related antibodies in serum samples from 1 072 newborns in the Department of Neonatolo-gy of our hospital from July 1,2023 to September 15,2023 were retrospectively analyzed.Results Among the 1 072 newborns,2 were diagnosed with acquired cytomegalovirus infection.The two newborns were extremely preterm infants(24-27+6 weeks of gestational age)and extremely low birth weight infants(750-999 g).They presented with thrombocytopenia as the initial manifestation.One case was a transfusion-acquired cytomegalovirus infection and the other was a breast milk-acquired cytomegalovirus infection.Conclusion In special populations such as extremely preterm infants,it is necessary to prevent transfusion-acquired cytomegalovirus infection during transfusion therapy,as well as breast milk-acquired cytomegalovirus infection.If necessary,pasteurization should be used before feed-ing.

Objective:To establish the cut-off value of tetradecenoyl carnitine (C14∶1)/dodecenoyl carnitine(C12∶1) based on non-derivatized tandem mass spectrometry (MS/MS), and to explore the application value of C14∶1/C12∶1 to screen newborns for very long chain acyl-CoA dehydrogenase deficiency (VLCADD), determining the best combination of indicators for screening VLCADD.Methods:This retrospective study included data from 17 newborns with VLCADD detected by MS/MS and confirmed by acyl-CoA dehydrogenase very long chain ( ACADVL) gene detection, and 423 507 newborns with normal MS/MS results. The data from these newborns were collected from January 2014 to December 2021 as the newborns received neonatal screening in Nanjing Neonatal Disease Screening Center and Suzhou Neonatal Disease Screening Center. All newborns were divided into 3 groups: all newborns group, full-term newborns group and normal-birth-weight newborns group, and the cut-off values of C14∶1/C12∶1 for VLCADD in these 3 groups were determined by their receiver operating characteristic (ROC) curves individually. With these results, a total of 5 interpretation schemes were composed using different indicators alone or jointly: scheme 1 being C14∶1/C12∶1, scheme 2 being C14∶1, scheme 3 being C14∶1+C14∶1/C2+C14∶1/C16, scheme 4 being C14∶1/C12∶1+C14∶1, and scheme 5 being C14∶1/C12∶1+C14∶1+C14∶1/C2+C14∶1/C16. The detection rate, false-positive rate and positive predictive value of each scheme were calculated, and their screening efficiencies were statistically compared by Chi-square tests. Results:The cut-off values of C14∶1/C12∶1 for VLCADD in the 3 newborn groups were all 2.80. The detection rates of VLCADD with all 5 interpretation schemes were 17/17. Scheme 1 had the highest false positive rate [26.15‰ (11 075/423 524)] and the lowest positive predictive value [0.15% (17/11 092)]. Scheme 4 (Scheme 5) had the lowest false positive rate [0.02‰ (10/423 524)] and the highest positive predictive value [62.96% (17/27)]. Comparing scheme 4 (Scheme 5) with scheme 1, scheme 2 and scheme 3, the differences of false positive rate (χ2=302.30,11 191.50,32.06) and positive predictive value (χ2=102.51,3 485.61,13.83) were statistically significant (all P<0.001). Conclusion:C14∶1/C12∶1 was an effective auxiliary interpretive indicator for VLCADD in newborn screening, and the combination of C14∶1/C12∶1+C14∶1 was tested to be the best indicator for VLCADD screening based on non-derivatized tandem mass spectrometry.

Objective:To investigate the effect of dapagliflozin on cognitive function in middle-aged and elderly type 2 diabetes mellitus patients and related factors.Methods:This was a retrospective study. A total of 200 patients who were hospitalized in the Department of Endocrinology, the Second Affiliated Hospital of Anhui Medical University from August 2021 to August 2022 were recruited randomly. They were divided into the dapagliflozin group and control group. Clinical data were collected; plasma levels of β-amyloid protein(Aβ) 40 and Aβ42 were measured. The Montreal cognitive assessment(MoCA) and the mini-mental state examination(MMSE) were employed to assess cognitive function in both groups. Based on MoCA scores, patients in the dapagliflozin group were further categorized into mild cognitive impairment(MCI) and non-MCI subgroups. Differences among groups were analyzed and compared using t-test, χ2 test, and Mann-Whitney U test, and multivariable logistic regression was used to identify relevant factors associated with cognitive impairment in diabetes patients. Results:Compared to the control group, the dapagliflozin group exhibited significant increases in MMSE and MoCA scores, estimated glomerular filtration rate, and plasma concentration Aβ40(all P<0.05); And the incidence of MCI, homeostasis model assessment for insulin resistance(HOMA-IR), total cholesterol, triglycerides, urine albumin creatine ratio, plasma Aβ42, and Aβ42/Aβ40 ratio were significantly decreased(all P<0.05). Compared with the MCI subgroup, duration of dapagliflozin treatment in the non-MCI subgroup were significantly increased( P<0.05); There were statistically significant decreased in the non-MCI subgroup in age, systolic blood pressure, fasting plasma C-peptide, and HOMA-IR(all P<0.05). Multivariable logistic regression analysis showed that duration of dapagliflozin treatment was a protective factor for cognitive dysfunction( OR=0.322, 95% CI 0.150-0.692, P=0.004) and the age and HOMA-IR were risk factors( OR=1.109, 95% CI 1.014-1.212, P=0.023; OR=3.376, 95% CI 1.276-8.931, P=0.014). Conclusion:Dapagliflozin may improve cognitive function and significantly reduce the incidence of MCI in middle-aged and elderly patients with type 2 diabetes mellitus, possibly associated with the improvement of insulin resistance.

OBJECTIVE: To analyze the clinical features and genetic variants in four neonates with very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. METHODS: Neonates with a tetradecenoylcarnitine (C14:1) concentration at above 0.4 μmol/L in newborn screening were recalled for re-testing. Four neonates were diagnosed with VLCAD deficiency by MS-MS and genetic testing, and their clinical features and genotypes were analyzed. RESULTS: All cases had elevated blood C14:1, and the values of first recalls were all lower than the initial test. In 2 cases, the C14:1 had dropped to the normal range. 1 case has remained at above 1 μmol/L after the reduction, and the remainder one case was slightly decreased. In total eight variants of the ADACVL genes were detected among the four neonates, which included 5 missense variants and 3 novel variants (p.Met344Val, p.Ala416Val, c.1077+6T>A). No neonate showed salient clinical manifestations. CONCLUSION Above findings have enriched the spectrum of ADACVL gene mutations and provided a valuable reference for the screening and diagnosis of VLCAD deficiency.
Acyl-CoA Dehydrogenase/genetics* ; Acyl-CoA Dehydrogenase, Long-Chain ; Congenital Bone Marrow Failure Syndromes ; Genetic Testing ; Humans ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; Mitochondrial Diseases ; Muscular Diseases ; Tandem Mass Spectrometry

Objective:To identify the possible pathogenesis of a neonate with carnitine palmitoyltransferase 1A (CPT1A) deficiency by analyzing genetic variants.Methods:Potential variants were detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases, and candidate variants were verified by Sanger sequencing.Results:Genetic testing indicated that the neonate has carried c. 1895T>A(p.Leu632X) and c. 1153G>A(p.Ala385Thr) compound heterozygous variants of the CPT1A gene, which were inherited from his father and mother, respectively. Both variants were verified as novel through the retrieval of HGMD database, ClinVar database and literature. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the c. 1895T>A variant was predicted as pathogenic(PVS1+ PM2+ PP4) and c. 1153G>A as likely pathogenic (PM1+ PM2+ PM3+ PP3). Conclusion:The c. 1895T>A and c. 1153G>A compound heterozygous variants of the CPT1A gene might underlie the pathogenesis in this child. Above results have provided a basis for clinical diagnosis and genetic counseling, and enriched the variant spectrum of the CPT1 deficiency.

Objective: To analyze the microvessel density (MVD) and lymph node metastasis in the papillary thyroid carcinoma (PTC) with punctate or sheet calcification. Methods: Fifty PTC patients in the Affiliated Hospital of Yangzhou University from May 2015 to October 2017 were retrospectively enrolled in this study. All of the 50 PTC patients were divided into punctate calcification group (38 cases) and sheet calcification group (12 cases) according to the different features of pathological calcification in microscope examination. For the two groups, the central and peripheral zone MVD and the lymph node metastasis of each PTC nodule were compared. Results: For PTC nodules of punctate calcification group, the mean central and peripheral zone MVD were (51±7)/HP and (64±8)/HP, respectively. For those of sheet calcification group, which were (35±5)/HP and (49±6)/HP, respectively. The mean MVD in both central and peripheral zone of PTC nodules of punctate calcification group were significantly higher than those of the sheet calcification group (t values were 10.183 and 12.406, both P < 0.05). The neck Ⅵ area lymph node metastasis rates of the punctate and sheet calcification groups were 42.1% (16/38) and 8.3% (1/12), respectively. The lymph node metastasis rate of the punctate calcification group was significantly higher than that of the sheet calcification group (χ ² = 4.635, P < 0.05). Conclusion PTC nodules with different type of pathological calcification may have different invasion and metastasis, and PTC with punctate calcification is more likely to undergo local metastasis than PTC with sheet calcification.

Objective · To explore the relationship between baseline lipid profiles and long-term cardiovascular outcomes after intervention with hypoglycemic drugs metformin and glipizide and to detect lipid components that can predict the long-term cardiovascular effect of metformin and glipizide.Methods· Liquid chromatography-quadrupole time of flight-mass spectrometry (LC-QTOF/MS) was used to measure 119 lipid components in baseline serum for 116 patients with type 2 diabetes (T2DM) and atherosclerotic heart disease (CHD) who were treated with glipizide (56 cases,the glipizide group)or metformin (60 cases,the metformin group).Cardiovascular complex end points (including cardiovascular death,all-cause death,nonfatal myocardial infarction,nonfatal stroke,and arterial revascularization) of all patients were followed up.The relationship between lipid components and cardiovascular complex end points was analyzed with Logistic regression analysis.The category-free net reclassification index (cfNRI) and the integrated discrimination improvement (IDI) were used to evaluate whether lipid components are helpful for predicting the recurrent cardiovascular events.Results· The differences in baseline drug distribution,clinical characteristics,and biochemical indexes between two groups were not statistically significant,except for diuretics use,serum PC (O-34:2) level,and SM (d18:0-24:0) level.Logistic regression analysis showed that baseline ChE (20:4) was a protective factor for recurrent cardiovascular events in the glipizide group (OR=0.87,P=0.039).ChE (20:4) significantly increased the cfNRI and IDI of cardiovascular complex end points by 69％ and 0.07,respectively (P=0.011,P=0.028).Baseline SM (dl 8:1-22:0) was a risk factor for recurrent cardiovascular events in the metformin group and all participants (OR=1.65,P=0.039;OR=1.64,P=0.014).SM (d18:1-22:0) significantly increased the cfNRI of cardiovascular complex end points in the metformin group and all participants by 74％ and 55％,respectively (P=0.012,P=0.005).Conclusion· Of 119 lipid components measured with LC-QTOF/MS,baseline ChE (20:4) is a protective factor and SM (d18:1-22:0) is a risk factor for cardiovascular complex end points in with T2DM and CHD patients after long-term treatment with metformin and glipizide.Both lipid components are helpful for improving the prediction of recurrent cardiovascular events.

Standard therapy has not been established for thyroid cancer when a thyroidectomy is contraindicated due to systemic disease. Herein, we reported a patient who had hypertrophic cardiomyopathy and papillary thyroid carcinoma treated by radiofrequency ablation because of inability to tolerate a thyroidectomy. Radiofrequency ablation can be used to treat thyroid cancer when surgery is not feasible, although the long-term outcome needs further observation.
Cardiomyopathy, Hypertrophic* ; Catheter Ablation* ; Humans ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy

Objective To evaluate the effect of health education on preventing birth defects in community in terms of knowledge, attitude and practice (KAP) for married women in reproductive age. Method A self-designed general information form and a questionnaire on KAP of married women′s preventing birth defects were used to investigate the KAP among 300 married nulliparous women. Result The average rate of cognitive knowledge of birth defects was 60.8%, the average rate of cognitive behaviors was 59.2%, and the average rate of cognitive attitude was 67.4%. Conclusion In order to reduce the rate of birth defects and improve the quality of births, we should implement three-level prevention education system, enrich the health education methods to enhance the knowledge, attitude and behavior of married women.

Objective To compare the outcomes of multifetal pregnancy reduction (MFPR)performed at different gestational ages,and to analyze the influence on pregnancy outcomes.Methods Data of 302 women with multifetal pregnancies conceived after assisted reproductive technology (ART) from January 2002 to February 2012 in Department of Obstetrics and Gynecology of Provincial Hospital Affiliated to Shandong University were collected and divided into two groups.The study group involved 152 multifetal pregnancy cases (triplets or quadruplets),which were further divided into three subgroups according to the timing of MFPR to twins,12-13 +6 (n=91),14-15+6(n=32) and 16-24+6 gestational weeks (n=29).The control group involved 150 twin pregnancy cases.MFPR was performed by trans abdominal intra cardiac injection of 10％ potassium chloride (KCl) solution under ultrasound guidance.Gestational age of delivery,birth weight,incidence of gestational diabetes mellitus (GDM) and hypertensive disorder complicating pregnancy (HDCP) were analyzed by t test,one-way ANOVA or Chi-square test.Results Pregnancy loss rate of the study group (14.5％,22/152) was higher than that (6.7％,10/150) of control group,x2=4.857,P＜0.05.Pregnancy loss rate of the subgroup undergoing MFPR during 16-24+6 gestational weeks (31.0％,9/29) was higher than that during 12-13 +6 gestational weeks (8.8％,8/91,x2=7.212,P＜0.05) and that of control group (x2=12.749,P＜0.05).There were no differences in pregnancy loss rate between control group and MFPR during 12-13+6 gestational weeks (x2=0.370,P＞0.05),and during 14-15+6 gestational weeks (15.6％,5/32,x2 =1.739,P＞0.05).No statistically significant difference was found between the study group and control group in mean gcstational age at delivery[(36.9±l.8) weeksvs (37.0±1.8) weeks,t =-0.346,P＞0.05],mean birth weight of large babies [(2720.4±455.0) g vs (2729.1±413.8) g,t =-0.163,P＞0.05] and small babies [(2409.2±412.6) g vs (2416.2±436.8) g,t=-0.136,P＞0.05].There were no differences between the study group and control group in delivery rate at 28-34 gestational weeks [6.2％ (8/130)vs6.4％ (9/140),x2 =0.009,P＞0.05],birth weight discordance rate [12.3％ (16/130) vs11.4％ (16/140),x2=0.050,P＞0.05],GDMrate[3.1％ (4/130) vs2.1％ (3/140),x2 =0.659,P＞0.05] and HDCP rate [11.5％ (15/130) vs 8.6％ (12/140),x2 =0.010,P＞0.05].Conclusions There is risk of pregnancy loss after MFPR,but MFPR before 16 weeks of gestation might decrease the risk.