Objective: To investigate the status of drug resistance before anti-retroviral therapy among newly dignosed HIV/AIDS patients aged ≥50 years in Yangzhou City, Jiangsu Province, so as to provide the evidence for improving the anti-retroviral therapy effect of AIDS. Methods: HIV/AIDS patients aged ≥50 years who were newly dignosed in Yangzhou City from 2021 to 2024 and did not receive anti-retroviral therapy were selected. Basic information were collected through the Chinese Disease Prevention and Control Information System. Blood samples were collected to determine CD4+T lymphocyte (CD4 cell) counts and HIV-1 viral load. Following nucleic acid extraction, the pol gene region was amplified using reverse transcription and nested PCR, and subsequently subjected to Sanger sequencing. The resulting sequences were uploaded to the Stanford University HIV Drug Resistance Database to analyze drug resistance to non-nucleoside reverse transcriptase inhibitors (NNRTIs), protease inhibitors (PIs), and nucleoside reverse transcriptase inhibitors (NRTIs). Results: Totally 404 blood samples from HIV/AIDS patients were collected, with successful sequencing of the pol gene region in 341 cases. Among them, 253 (74.19%) were males and 88 (25.81%) were females, with a mean age of (62.48±7.60) years. A total of 152 cases (44.57%) had CD4 cell counts below 200 cells/μL, and 296 cases (86.80%) had HIV-1 viral loads exceeding 5 000 copies/mL. A total of 87 cases exhibited drug resistance-associated mutations, corresponding to a mutation rate of 25.51%. The predominant mutation site was V179, with a mutation rate of 17.01%. A total of 29 cases exhibited resistance to at least one drug, resulting in a resistance rate of 8.50%. The resistance rates to NNRTIs, PIs, and NRTIs were 5.57%, 2.93%, and 1.17%, respectively. The HIV/AIDS patients exhibited varying degrees of resistance to 13 anti-retroviral drugs, with low- or intermediate-level drug resistance being predominant. High-level drug resistance cases were observed against NNRTIs such as nevirapine and efavirenz. Conclusions The drug resistance rate before anti-retroviral therapy among newly dignosed HIV/AIDS patients aged ≥50 years in Yangzhou City was at a moderate level. The predominant resistance mutation was observed at V179 site, with NNRTIs resistance being most prevalent, primarily demonstrating low- or intermediate-level drug resistance.

As the continuation of the left ventricle,the left atrium and left ventricle interact and play an important role in the function of the whole heart.At present,there are many techniques to evaluate the atrial structure and function,but the left atrial structure is complex and the myocardium is thin,which brings some challenges to the relevant evaluation.This paper introduces the parameters,precautions and relevant clinical applications in the process of left atrial evaluation from the aspects of myocardial strain and delayed enhancement.

Objective To analyze the epidemic characteristics of varicella and the genetic characteristics of varicella zoster virus (VZV) in Yangzhou in 2021, and to provide a theoretical basis for the scientific prevention and control of varicella in Yangzhou. Methods Descriptive epidemiological analysis was carried out on the varicella outbreaks reported in Yangzhou in 2021. Throat swabs or herpes fluid samples from varicella cases in 2021 were collected, and the viral nucleic acid was detected by real-time fluorescent quantitative PCR. The genotype and evolutionary relationship of the virus strain were determined according to the 6 SNPs in the ORF22 gene fragment sequence. Results In 2021, there were 20 varicella outbreaks in Yangzhou, involving 147 cases, all of which occurred in kindergartens and primary and secondary schools, and the peak incidence was in the age group of 4-7 years old. The high incidence time of the outbreaks was from May to July, and from November to January of the next year. The varicella vaccination rate of the cases was low, and all were 1-dose vaccination. The gene sequencing results of 8 samples were J/clade 2, and 3 of them had A-C synonymous mutation at position 37997 in ORF22 sequence. Conclusion In 2021, varicella outbreaks in Yangzhou occurred mainly in kindergartens and schools. Preschool children are susceptible, all of which are caused by J/clade 2 varicella-zoster virus. It is suggested to strengthen the monitoring and management of the varicella epidemic situation in schools in the city, and at the same time incorporate the varicella vaccine into the routine immunization program of the city and strengthen 2 doses of varicella vaccination.

Objective:To analyze the clinical manifestations, gene mutation characteristics and treatment effects of patients with GATOR1 complex-related epilepsy, and to explore the diagnosis and treatment of this disease.Methods:The medical history, electroencephalogram, brain imaging, genetic test results, treatment and follow-up data of patients with GATOR1 complex-related epilepsy who attended the Children′s Hospital Affiliated to Capital Institute of Pediatrics, Beijing Tsinghua Changgung Hospital, and Shanghai Deji Hospital from May 2017 to July 2022 were retrospectively analyzed.Results:A total of 16 patients with GATOR1 complex-related epilepsy were collected, including 7 males and 9 females. The age of onset of epilepsy was from 2 months to 14 years. Ten cases had focal seizures only, 2 cases had generalized seizures only, and 4 cases had coexistence of focal seizures and generalized seizures, of which generalized seizures included generalized tonic-clonic seizure, spastic seizure, and myoclonic seizure. Among the 16 patients, 2 had infantile spasms, 3 had familial focal epilepsy with variable focus, and 1 had sleep related hyperkinetic epilepsy. Electroencephalogram intervals suggested multiple brain areas discharge or diffuse discharge. A total of 13 DEPDC5 gene mutation sites, 1 NPRL2 gene mutation site, and 2 NPRL3 gene mutation sites were found; 4 sites of DEPDC5 gene were reported sites, the rest were unreported; all mutations had pathogenic significance; 8 cases had nonsense mutation, 1 case had large fragment deletion, 4 cases had frameshift mutation, 1 case had integer mutation, 2 cases had splicing mutation; 13 cases′ mutation was inherited from parents, 2 cases had new mutation, and 1 case had unverified mutation. Magnetic resonance imaging (MRI) showed 5 of the 16 patients were normal, and 11 had abnormal cerebral cortex structure, manifested as bottom-of-sulcus focal cortical dysplasia (FCD), abnormal formation of sulci and (or) gyri with or without ill-defined gray-white matter and malformation of cortical dysplasia of the bilateral brain. Seven patients underwent stereotactic electroencephalogram (SEEG) monitoring, and the SEEG showed low-amplitude fast rhythm at the beginning in 6 patients, of whom 5 cases started from the frontal lobe, and 1 case started from the parietal lobe. Eight patients were only treated with drugs, 1 with single-drug therapy and the rest with multi-drug combination therapy. Eight patients underwent surgery. Among them, 5 patients with DEPDC5 gene mutation underwent epileptogenic cortex excising after SEEG monitoring, and postoperative pathological examinations showed FCDⅡ, FCDⅢ or non-specific changes; 1 patient was waiting for surgery. One patient with NPRL3 gene mutation underwent epileptogenic foci resection and postoperative pathological examinations showed FCDⅡa; the other patient with NPRL3 gene mutation underwent radiofrequency thermocoagulation after SEEG monitoring. Follow-up showed that 3 patients were seizure-free with drug treatment, and 4 patients had fewer seizures after drug treatment. Six cases underwent epileptic foci resection. Five of them were assisted by SEEG to locate the epileptic foci before surgery and were seizure-free after the operation, but the range of surgical resection was wider than the abnormal range shown by MRI; whereas 1 case who was not assisted by SEEG showed no improvement. There was still 1 case who underwent SEEG-guided radiofrequency thermocoagulation and had no improvement after operation. Conclusions:GATOR1 complex-related epilepsy mostly manifests as focal seizures. SEEG shows that seizures originate from the frontal lobe more often, and cortical developmental abnormalities are often found. DEPDC5 gene mutations are the most common ones, mostly inherited from parents, with high incomplete penetrance rate. Therefore, genetic testing is recommended for non-acquired brain structural abnormalities. For those who are refractory to drugs, a radical cure can be obtained by resection of the epileptogenic foci after preoperative evaluation.

Objective To observe the value of quantitative CT(QCT)for predicting the efficacy of medical thoracoscopic giant emphysematous bullae(GEB)volume reduction.Methods Data of chest QCT and pulmonary function tests before and 6 months after medical thoracoscopic volume reduction in 26 chronic obstructive pulmonary disease(COPD)patients complicated with GEB who underwent medical thoracoscopic GEB volume reduction were retrospectively analyzed.According to the improvement rate of lung function(forced expiratory volume in one second[FEV1])6 months after treatment compared with that before treatment,the patients were divided into significant improvement group(FEV1 improvement rate≥15％,n=20)and non-significant improvement group(FEV1 improvement rate＜15％,n=6).QCT parameters before treatment were compared between groups,and the correlations of QCT parameters being significantly different between groups with FEV1 improvement 6 months after treatment were analyzed.Then receiver operating characteristic(ROC)curves were drawn to evaluate the efficacy of the above parameters for predicting the curative effect of medical thoracoscopic volume reduction of GEB.Results Significant differences of preoperative target lung lobe volume,total lung volume and bullae volume were found between groups(all P＜0.05).Preoperative target lung lobe volume,total lung volume,target lobar bullae volume and total lung bullae volume were positively correlated with FEV1 improvement(r/rs=0.600,0.470,0.699,0.523,all P＜0.05),with the area under the curve(AUC)for predicting FEV1 improvement of 0.817,0.817,0.892 and 0.833(all P＜0.05),respectively.Conclusion QCT could effectively predict the efficacy of medical thoracoscopic GEB volume reduction.

Objective: To evaluate the accuracy and feasibility of coronary artery calcium score ( CACS) on virtual non-contrast scan ( VNC) images obtained from coronary artery CT angiography ( CCTA) scan with dual －layer spectral detector CT (SDCT) ． Methods : The data of 197 patients who underwent CCTA scan in hospital were analyzed retrospectively，and 88 patients with CACS ＞0 were further analyzed． Linear regression analysis of CACS and coronary artery calcium volume ( CACV) of true non-contrast (TNC) images and VNC images ( CACS-TNC， CACS-VNC，CACV-TNC，CACV-VNC) was performed to obtain linear regression equation and correction coefficients λ 1AVG and λ2AVG ．CACS-VNC and CACV-VNC were corrected by the corresponding regression equation and recorded as CCACS-VNC and CCACV-VNC，respectively．Spearman correlation coefficient was used for correlation analysis and Bland-Altman plot was used for consistency test．Mann-Whitney U test was used to compare the difference between the two groups. Results : For the total coronary artery，there was a strong correlation between CACS- TNC and CACS-VNC (rs = 0. 952，P ＜0. 001 ，λ 1AVG = 2. 19 ) ，CACV-TNC and CACV-VNC ( rs = 0. 954，P < 0. 001，λ2AVG = 1. 93) ．The results of Mann-Whitney U test showed that there was no significant difference between CACS-TNC and CCACS-VNC or between CACV-TNC and CCACV-VNC，and the Bland-Altman plot showed good consistency between CACS-TNC and CCACS-VNC ，CACV-TNC and CCACV-VNC． Conclusion VNC images based on SDCT can accurately measure CACS and be used for cardiovascular risk classification，which is expected to replace TNC scan and reduce the radiation dose of patients.

Objective:To observe the etiological distribution, clinical presentations and imaging features of pulmonary mycosis that is diagnosed by pathology.Methods:The etiological distribution, clinical presentations and imaging features of patients with pulmonary mycosis, who were collected in the Affiliated Hospital of Jining Medical University from January 2018 to July 2020, were retrospectively analyzed. The diagnosis of all the patients were confirmed by pathological examination, of lung or bronchi tissue that were obtained through operation, bronchoscope or percutaneous lung puncture biopsy.Results:There were 26 patients' (60.47%, 26/43) pathological specimens were obtained by operation, 14 cases (32.56%, 14/43) were obtained by bronchoscope, and 3 cases (6.98%, 3/43) were obtained by percutaneous lung puncture biopsy. Of the 43 patients who were diagnosed pulmonary mycosis by pathology, 27 patients (62.79%, 27/43) suffered from pulmonary aspergillosis, 11 patients (25.58%, 11/43) suffered from pulmonary cryptococcosis, 3 patients (6.98%, 3/43) suffered from pulmonary mucormycosis, and 2 patients (4.65%, 2/43) suffered from pulmonary candidiasis. There were 27 patients (62.79%, 27/43) with pulmonary fungal disease complicating risk factors of fungal infection, including diabetes mellitus (23.26%,10/43), malignant tumor (16.28%, 7/43), bronchiectasis (9.30%, 4/43), hepatitis B virus (HBV) carrier (6.98%, 3/43), taking glucocorticoids (4.65%, 2/43), pulmonary tuberculosis (4.65%, 2/43), and chemotherapy following colon carcinoma operation (2.33%, 1/43). The common clinical presentations included cough (55.81%, 24/43), expectoration (48.84%, 21/43), hemoptysis (37.21%, 16/43), fever (20.93%, 9/43), gasping (18.60%, 8/43), chest pain (16.28%, 7/43), and hoarseness (3.13%, 1/43). Imaging features of chest included lung nodes in 20 cases (46.51%, 20/43), vascular welt sign in 12 cases (27.91%, 12/43), exudative process in 10 cases (23.26%, 10/43), lung mass or consolidation in 8 cases (18.60%, 8/43), cavitary lesions in 7 cases (16.28%, 7/43), thicken bronchus wall and narrow lumina in 6 cases (13.95%, 6/43), air crescent in 5 cases (11.63%, 5/43).Conclusions:The pulmonary aspergillosis and cryptococcosis are mainly in pulmonary mycosis diagnosed by pathology. The common complications are diabetes mellitus and malignant tumor. The common clinical presentations are cough, expectoration, and hemoptysis. The main imaging features of chest are lung nodes and vascular welt sign can be found in most of pulmonary cryptococcosis.

Objective:To analyze the relationship between iron metabolism and insulin resistance in patients with polycystic ovary syndrome (PCOS) complicated with gestational diabetes mellitus (GDM) .Methods:The pregnant women who were routinely tested in Yantai Yuhuangding Hospital from Jan. 2017 to Feb. 2018 were selected for screening. 60 pregnant women with GDM were diagnosed as gestational diabetes group (GDM) , 60 cases of GDM pregnant women previously diagnosed as polycystic ovary syndrome (PCOS) as polycystic ovarian diabetes group (PGDM) , and 60 normal pregnant women were as the normal control group (NC) . The levels of blood glucose, insulin, hemoglobin and iron indexes (serum iron, ferritin and transferrin saturation) were measured in three groups, and the changes of oxidative stress injury and inflammation level were evaluated. The relationship between iron and inflammation with insulin resistance was analyzed by multiple linear regression.Results:Compared with NC, the hemoglobin decreased, the saturation of ferritin and transferrin increased in PGDM group[ F=3.55, 8.24, 5.10, all P<0.05], Malondialdehyde increased and superoxide dismutase decreased[ F=11.11,7.24,all P<0.01], the level of tumor necrosis factor-alpha and interleukin-6 increased [ F=4.02,19.06, all P<0.05]. Compared with GDM group, Hb was decreased, SF, TS were increased and HOMA-IR, MDA, TNF-α, IL-6 were increased in PGDM group (all P<0.05) . MDA, TNF-alpha and interleukin -6 were positively correlated with ferritin ( r=0.42, 0.43, 0.56, P<0.05) , and were positively correlated with the saturation of ferritin ( r=0.61, 0.42. 0.52, all P<0.01) , and the superoxide dismutase was negatively correlated with the saturation of ferritin and transferrin ( r=-0.61, -0.42, P<0.05) , and the saturation of ferritin and transferrin was positively correlated with the insulin resistance index ( r=0.39, 0.41, P<0.01) . Conclusions:Iron deposition in patients with PGDM leads to increased oxidative stress injury and inflammatory response, which aggravates insulin resistance. The disorder of iron metabolism may be related to the mechanism of hyperglycemia in patients with PGDM.

The clinical data of 9 patients with exogenous lipid pneumonia confirmed by pathology were retrospectively analyzed. There were 4 males and 5 females, aged 57-79 years, with a history of intestinal obstruction and oral administration of liquid paraffin. The main clinical symptoms were cough, expectoration and fever (8 cases), and combined with wheezing (5 case); and crackles and rhonchi were revealed on chest auscultation in all patients. The right lung lower lobe was involved in all 9 cases, the left lower lobe, right middle and lower lobe were also involved in 6 case. The CT scan showed that infiltration (7 case) and consolidation (6 case) were the most common imaging features, followed by the septal thickening (5 case) and pleural effusion (4 case); the low density fat-like changes within the consolidative opacities was a specific feature of lipid pneumonia (3 case). The lung biopsy was performed in the target site through bronchoscope, and pathology showed the interstitial fibrous tissue hyperplasia with chronic inflammatory cell infiltration and adipocyte-like cells. Six patients were treated with glucocorticoid and repeated bronchoalveolar lavage with good response, one cases died and two cases discharged automatically. The clinical manifestation and imaging features of exogenous lipid pneumonia are lack of specificity; transbronchial lung biopsy is an effective method for the diagnosis. The repeated bronchoalveolar lavage with saline combined with medication of glucocorticoids are effective for the treatment of exogenous lipid pneumonia.

Objective: To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children’s Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.