Objective To explore the application of diagnostic system with artificial intelligence(AI)in the evaluation of patients with coronary heart disease(CHD)at high altitude.Methods A total of 318 pa-tients underwent coronary CT angiography(CTA)at the hospital from January to December 2022 were pro-spectively collected.According to the altitude gradient,the patients were divided into the 2 000-3 000 m group and>3 000 m group.Coronary angiography(CAG)was used as the gold standard to verify the diag-nostic performance of AI diagnostic system.Coronary artery diagnosis system with AI technology and CT de-rived fractional flow reserve(CT-FFR)measurement system were used to evaluate the plaque structure char-acteristics and hemodynamic changes in the two groups of patients.Results Calcified plaques and vulnerable plaques in the>3 000 m group were more than those in the 2 000-3 000 m group(χ2=3.976,6.482,P= 0.046,0.011).The incidence of multi-vessel coronary artery disease,moderate stenosis,severe stenosis and complete occlusion in the>3 000 m group was higher than that in the 2 000-3 000 m group,and the inci-dence of single-vessel coronary artery disease and mild stenosis in the 2 000-3 000 m group was higher than that in the>3 000 m group(P<0.05).The incidence of CT-FFR≤0.80 and<0.70 in the>3 000 m group was higher than that in the 2 000-3 000 m group(χ2=4.782,28.118,P=0.029,<0.001).The comparison with the gold standard showed that this method has high sensitivity,specificity,and diagnostic consistency(P<0.001).Conclusion The coronary diagnosis system with AI technology has certain value in the system-atic evaluation of coronary artery characteristics and hemodynamic changes in CHD patients at high altitude.

The clinical data of a patient with Klinefelter syndrome (KS) complicated by partial androgen insensitivity syndrome (PAIS) was retrospectively analyzed.The patient, a 2-month-and-22-day-old baby, was admitted to Children′s Hospital Affiliated to Zhengzhou University due to abnormal external genitalia in October 2021.Upon birth, the patient exhibited abnormal external genitalia, manifested as clitoral hypertrophy.Hormonal examinations were consistent with those of peers, while chromosomal analysis revealed 47, XXY.Due to the severe undermasculinization, whole exome sequencing was conducted, indicating a heterozygous variant of the AR gene (c.1847G>A, p.Arg616His). The patient was diagnosed with PAIS, and her elder sister was diagnosed with complete androgen insensitivity syndrome.For further treatment, a multidisciplinary comprehensive evaluation is needed.This is a rare case of KS combined with PAIS, suggesting the possibility of AR gene mutations in KS children with severe undermasculinization.

Objective:To investigate the effects of Porphyromonas gingivalis derived outer membrane vesicles (Pg OMV) on osteoclast differentiation of macrophages and its underlying mechanisms. Methods:The morphology and the size distribution of Pg OMV were analyzed by transmission electron microscopy and nanoparticle tracing analysis, respectively. The osteoclast precursors were treated with 1, 3 and 10 mg/L Pg OMV (1, 3 and 10 mg/L OMV treatment group) or phosphate buffer solution (PBS)(control group). The formation of osteoclasts was analyzed by tartrate-resistant acid phosphase (TRAP) staining and F-actin staining and real-time quantitative PCR (RT-qPCR) were used to detect the expression of Fos and matrix metallopeptidase 9 (MMP9). Polymyxin B (PMB) was used to block lipopolysaccharide (LPS) and then Pg OMV was used to treat osteoclast precursor (PMB-OMV treatment group), and OMV treatment group was used as control. TRAP and F-actin staining were used to observe the formation of osteoclasts and actin rings. The effect of Pg OMV on the expression of Toll-like receptor (TLR) 2 and TLR4 in preosteoclasts was detected by Western blotting. The osteoclast precursors were pretreated with 10, 50, 100 and 200 μmol/L C29, an inhibitor of TLR2, and then treated with Pg OMV(OMV+10, 50, 100 and 200 μmol/L C29 treatment group) and OMV treatment group without C29 pretreatment was control. TRAP and F-actin staining were used to observe the formation of osteoclasts and actin rings. The osteoclast precursor cells were treated with OMV (OMV treatment group) and OMV incubated with PMB (PMB-OMV treatment group) and the expression of TLR2 in osteoclast precursor was detected by Western blotting.Results:Pg OMV showed classical vesicular structures, and the average particle size of Pg OMV were 179.2 nm. A large number of actin rings were observed in the 3 and 10 mg/L OMV treatment groups. The percentages of TRAP-positive osteoclast area in 3 mg/L OMV treatment group [(22.6±2.1)%] and 10 mg/L OMV treatment group [(32.0±2.3)%] were significantly increased compared with control group [(4.9±0.5)%] ( P<0.001). Compared with the control group (1.000±0.029), the mRNA relative expression of Fos in 3 mg/L OMV treatment group (1.491±0.114) and 10 mg/L OMV treatment group (1.726±0.254) was significantly increased ( P=0.013, P=0.001). Compared with the control group (1.007±0.148), the mRNA relative expression of MMP9 in the group of 10 mg/L OMV (2.232±0.097) was significantly increased ( P<0.001). Actin ring formation was less in PMB-OMV treatment groups than in OMV treatment groups. The proportion of TRAP-positive osteoclasts area [(14.8±3.8)%] in PMB-OMV treatment group was significantly lower than OMV treatment group [(31.5±6.7) %] ( P=0.004). The relative expression of TLR2 in OMV treatment group (1.359±0.134) was significantly higher than that in the control group (1.000±0.000) ( t=4.62, P=0.044). Compared with the OMV treatment group [(29.4±1.7)%], 50, 100 and 200 μmol/L C29 significantly decreased the formation of osteoclasts [(24.0±1.7)%, (18.5±2.1)%, (9.1±1.3) %] ( P=0.026, P<0.001, P<0.001). TLR2 protein expression in PMB-OMV group (0.780±0.046) was significantly lower than that in OMV group (1.000±0.000)( t=8.32, P=0.001). Conclusions:Pg OMV can promote osteoclast differentiation by carrying LPS, TLR2 plays an important role in Pg OMV mediated osteoclast differentiation.

OBJECTIVE: To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene. METHODS: Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed. RESULTS: Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously. CONCLUSION FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.
Humans ; Child ; Glucocorticoids/therapeutic use* ; Receptor, Melanocortin, Type 2/genetics* ; Retrospective Studies ; Adrenal Insufficiency/genetics* ; Mutation

Enterotoxigenic Escherichia coli（ETEC）infection can induce watery diarrhea，leading to dehydration，electrolyte disturbance，and even death in severe cases. Recombinant B subunit/inactivated whole-cell cholera（rBS/WC）vaccine is effective in preventing ETEC infectious diarrhea. On the basis of the latest evidence on etiology and epidemiology of ETEC，as well as the effectiveness，safety，and health economics of rBS/WC vaccine，National Clinical Research Center for Child Health（The Children’s Hospital，Zhejiang University School of Medicine）and Zhejiang Provincial Center for Disease Control and Prevention invited experts to develop expert consensus on rBS/WC vaccine in prevention of ETEC infectious diarrhea. It aims to provide the clinicians and vaccination professionals with guidelines on using rBS/WC vaccine to reduce the incidence of ETEC infectious diarrhea.

Objective:To explore the feasibility and clinical efficacy of in situ vessels anastomosis in treatment of severe degloving injury of hand, and long-term follow-up observation of the clinical efficacy.Methods:From January 2016 to December 2018, 11 patients of severe degloving avulsion injuries were treated in the Department of Hand and Microsurgery of Tianjin Hospital. Six patients had right hands injuried and 5 in left hands. The age of patients ranged from 16 to 51 years old, with an average age of 31.5 years old. All injuries accompanied with metacarpal or phalangeal fractures. In situ vascular anastomosis was applied to all patients in the replantation surgery. Long-time follow-ups and observation of postoperative appearance, sensory and hand function recovery were conducted through visits of outpatient clinic.Results:All operations were successful. All degloving tissues survived after replantation in 6 patients. Partial palm skin necrosis and thumb nail bed necrosis occurred in 1 patient, and treated with skin grafting and abdominal flap transfer. Thumb nail bed necrosis occurred in 2 patient, in which 1 patient repaired by abdominal pedicled flap transfer, and the other patient repair by local flap transfer. One patient had dorsal hand skin necrosis, and repaired with free anterolateral thigh flap(ALTF). One patient had palm hand skin necrosis, and repaired with free skin grafting. There were 1 patient had index and middle finger necrosis and 1 with little finger necrosis. And finger amputation was performed later. Mean follow-up period was 22 (15-36) months. According to the Evaluation Standard of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association, 6 patients were in excellent, 3 in good and 2 in fair. According to the standard of British Medical Research Council (BMRC), sensation recovered to S 4 in 5 patients, S 3 in 5 patients and S 2 in 1 patient. Conclusion:Using precise microsurgical techniques to directly anastomose in situ vessels in the treatment of severe hand degloving injuries can achieve satisfactory long-term recovery of hand function.

OBJECTIVE: To carry out amniocyte karyotyping analysis and chromosomal microarray analysis (CMA) for women with anomalies revealed by fetal echocardiography. METHODS: From January 2019 to December 2021, genetic testing was carried out for 205 fetuses including 97 with soft marker anomalies and 108 with structural heart abnormalities. Among these, 138 only had abnormal fetal echocardiography, whilst 38 and 29 were complicated with extracardiac soft marker anomalies and extracardiac structural malformation, respectively. RESULTS: No significant difference was detected in the detection rate of genetic anomalies between fetuses with heart-related soft markers and those with abnormal heart structures (P > 0.05). Compared with those with abnormal fetal echocardiography alone, the detection rates of chromosomal aneuploidies in those with abnormal extracardiac soft markers or abnormal extracardiac structures were significantly higher (P < 0.05). Twenty-eight chromosomal aneuploidies (including a rare mosaicism), 2 balanced translocations and 1 supernumerary marker chromosome were detected by karyotyping analysis. Twenty-seven aneuploidies, 19 copy number variations (CNVs) and 1 uniparental disomy were detected by CMA. CONCLUSION Prenatal diagnosis has attached great importance to the suggestive role of fetal heart-related soft markers, and chromosomal aneuploidies are more common among fetuses with abnormal extracardiac soft markers and extracardiac structural abnormalities. Chromosomal Karyotyping is useful for the detection of balanced translocations and mosaicisms. CMA is helpful for the detection of CNVs. Identification of the genetic causes can facilitate genetic counseling for the affected couples.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Echocardiography ; Aneuploidy ; Mosaicism ; Translocation, Genetic

Objective:To observe the effect of supplementing vacuum sealing drainage with hyperbaric oxygen in the short term treatment of diabetic foot ulcers.Methods:A total of 156 persons diagnosed with diabetic foot ulcers were randomly divided into a control group and a treatment group, each of 78. Both groups received life guidance and active treatment to lower blood sugar and lipids, as well as anti-infection treatment guided by bacterial cultures. Both groups′ wounds were debrided. The wound was then covered with foam, sealed, and negative pressure of -75 to -100mmHg was applied during 1 week of drainage. Two courses of this treatment were applied. In addition, the treatment group received hyperbaric oxygen daily during the two weeks. The exposure pressure was incrased to 0.25MPa over 15min with 100% oxygen. That was inhaled in two 30min sessions with a 10min interval. The pressure then decompressed at a constant rate for 25 minutes. Wound healing, hemorheology, wound granulation tissue staining and any changes in TGF-β1 were observed before as well as after 7 and 14 days of the treatment.Results:The average wound size and symptom score of both groups had improved significantly after the treatment, with the largest effect in the treatment group during the first week. Both groups′ hemorheology had improved significantly after one week, but the treatment group′s improvement was greater. After 2 weeks, however, there was no significant difference in the average hemorheologic indicators for either group compared with before the treatment. Hematoxylin-eosin staining of the wound tissues showed that there were many inflamed cells before the treatment, with relatively little fresh granulation tissue or new blood vessels. After one week of treatment much new granulation tissue was observed under the microscope in both groups, with no significant difference between them. One week later, there was still much granulation tissue in the control group, but slightly less in the treatment group. The ave-rage post-treatment TGF-β1 protein levels in the wound tissues of both groups were significantly higher than before the treatment, but after two weeks the average TGF-β1 protein level had decreased significantly in the treatment group compared with the control group.Conclusions:One week of hyperbaric oxygen treatment can effectively improve the hemorheology of persons with diabetic foot ulcers, promote the proliferation of granulation tissue and fibroblasts, and increase the level of TGF-β1 protein in the wound tissues. However, the effects of hyperbaric oxygen treatment weaken gradually with time.

Objective The purpose of this study is to grasp the current situation of radiation protection in some non-medical institutions in Hangzhou, and to provide basis and reference for the relevant authorities departments to make the radioactive hazard factors monitoring plan for non-medical institutions. Methods The configuration of the personnel protective equipment and radiation level of radiation sources and radiation devices in 5 non-medical monitoring institutions in Hangzhou were investigated and analyzed by means of questionnaire survey and on-site detection. Results The radiation workers of 5 monitoring institutions have carried out personal dose monitoring, and their annual individual dose equivalent meets the requirements of relevant national standards. The ambient dose equivalent rates around the radiation source and radiation device room are lower than the minimum detection limit of the instrument. When the source is stored, the maximum ambient dose equivalent rates at 5 cm and 100 cm away from the external surface of the source container were 22.2 μSv/h and 2.0 μSv/h, respectively. When the source is in use, the maximum ambient dose equivalent rates at 5 cm and 100 cm away from the external surface of the source container were 44.3 μSv/h and 5.0 μSv/h, respectively. Conclusion Under normal operation, the radiation dose level of some non-medical monitoring institutions in Hangzhou is at a low level, while the ambient dose equivalent rates around the external surface of the source container is at a high level. Therefore, non-medical institutions should improve their awareness of radiation protection and strengthen radiation management.

To explore the clinical efficacy and toxicity of the NAPD regimen(vinorelbine, cytarabine, cisplatin, and dexamethasone) in the treatment of recurrent refractory non-Hodgkin' s lymphoma.
 Methods: A total of 67 patients identified with recurrent refractory non-Hodgkin's lymphoma were enrolled for this retrospective study. The curative efficacy of NAPD regimen was evaluated after 2 consecutive cycles. The toxicities and side effects were evaluated after 1 cycle. The objective response rate (ORR), overall survival (OS), progress free survival (PFS), 1, 2 or 4 years of OS and PFS rates were analyzed. The prognosis was evaluated with univariate and multivariate analysis.
 Results: The ORR was 53.8% after two cycles, including 5(7.5%) complete responses and 31(46.3%) partial responses. The clinical benefit rate (CBR) was 88.7% (59/67). The median OS was 22 (1.5-140.0) months. 1, 2 or 4 years of OS rates were 70.9%, 49.0%, and 35.0%, respectively. The median PFS was 14 (1.5-140.0) months; and 1, 2 or 4 years of PFS rates were 57.5%, 38.3%, and 29.8%, respectively. The main side effect was myelosuppression. The rates of Grade III/IV leukopenia and thrombocytopenia were 13.4% (9 cases) and 3.0% (2 cases), respectively. Gastrointestinal toxicity was at Grade I or II and 6% patients displayed gastrointestinal toxicity at Grade III/IV. No severe cardiac and hepatorenal functional toxicity was observed.
 Conclusion: The NAPD regimen for recurrent refractory non-Hodgkin's lymphoma is effective, and its toxicity is well tolerated. It is a salvage chemotherapy regimen and be of worth to be verified.
Antineoplastic Combined Chemotherapy Protocols ; Cisplatin ; Dexamethasone ; Etoposide ; Humans ; Lymphoma, Non-Hodgkin ; drug therapy ; Neoplasm Recurrence, Local ; Retrospective Studies ; Salvage Therapy ; Treatment Outcome