The male patient,one day old,was admitted to the hospital due to hypoglycemia accompanied by apnea appearing six hours after birth.The patient had transient hypoglycemia early after birth,and acute heart failure suddenly occurred on the eighth day after birth.Laboratory tests showed significantly reduced levels of adrenocorticotropic hormone and cortisol,and pituitary magnetic resonance imaging was normal.Genetic testing results showed that the patient had probably pathogenic compound heterozygous mutations of the TBX19 gene(c.917-2A＞G+c.608C＞T),inherited respectively from the parents.The patient was conclusively diagnosed with congenital isolated adrenocorticotropic hormone deficiency caused by mutation of the TBX19 gene.Upon initiating hydrocortisone replacement therapy,cardiac function rapidly returned to normal.After being discharged,the patient continued with the hydrocortisone replacement therapy.By the 18-month follow-up,the patient was growing and developing well.In neonates,unexplained acute heart failure requires caution for possible endocrine hereditary metabolic diseases,and timely cortisol testing and genetic testing should be conducted.[Chinese Journal of Contemporary Pediatrics,2024,26(3):321-324,V]

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.

The value of combined detection of neutrophil apolipoprotein (HNL), serum amyloid A (SAA), procalcitonin (PCT) and C-reactive protein (CRP) in the differential diagnosis of bacterial and viral infectious diseases. A retrospective study was conducted to collect the clinical data of infected patients and healthy people in the clinical department of Shaanxi Provincial People's Hospital from September to December in 2022. 100 patients with confirmed infection were divided into bacterial infection group (n=50) and virus infection group (n=50), and 50 healthy people were selected as control group (n=50). Fasting venous blood was collected at the initial stage of admission or on the day of physical examination. HNL was detected by double antibody sandwich method, SAA and CRP were detected by nephelometry, and PCT was detected by chemiluminescence method. The efficacy of infection markers in the differential diagnosis of bacterial infection and viral infection in infected patients was evaluated. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic efficacy of HNL, SAA, PCT and CRP in bacterial and viral infectious diseases; Logistic regression was used to analyze the influence of each index on the diagnostic efficiency. The results showed that the levels of HNL (126.60±33.32) ng/ml, PCT (28.02±11.37) ng/ml and CRP (36.13±14.37) mg/L in bacterial infection group were significantly higher than those of HNL (47.72±15.94) ng/ml, PCT (1.27±0.40) ng/ml, CRP (18.77±10.66) mg/L in virus group and HNL (38.21±12.53) ng/ml, PCT (0.38±0.12) ng/ml and CRP (4.13±1.07) mg/L in control group. The level of HNL increased most significantly (F=89.228, P<0.05). The area under ROC curve (AUC) from large to small was HNL+SAA+PCT+CRP (0.976), HNL (0.907), PCT (0.885), CRP (0.856), SAA (0.790), SAA/CRP (0.733). The level of SAA/CRP in virus infection group (94.05±3.75) was significantly higher than that in bacteria group (17.70±3.69) and control group (3.89±1.50) (F=84.005, P<0.05). The area under ROC curve (AUC) from large to small was HNL+SAA+PCT+CRP (0.986), SAA/CRP (0.956), SAA (0.878), HNL (0.768), CRP (0.742), PCT (0.730). In conclusion, HNL has the best auxiliary diagnostic efficacy in bacterial infection, followed by PCT; SAA/CRP has the best auxiliary diagnostic efficacy in viral infection, followed by SAA; the combined detection of serum HNL, SAA, PCT and CRP may be helpful for the differential diagnosis of bacterial and viral infections.
Humans ; C-Reactive Protein ; Procalcitonin ; Serum Amyloid A Protein ; Retrospective Studies ; Virus Diseases/diagnosis* ; Bacteria ; Communicable Diseases ; Bacterial Infections/diagnosis*

The value of combined detection of neutrophil apolipoprotein (HNL), serum amyloid A (SAA), procalcitonin (PCT) and C-reactive protein (CRP) in the differential diagnosis of bacterial and viral infectious diseases. A retrospective study was conducted to collect the clinical data of infected patients and healthy people in the clinical department of Shaanxi Provincial People's Hospital from September to December in 2022. 100 patients with confirmed infection were divided into bacterial infection group (n=50) and virus infection group (n=50), and 50 healthy people were selected as control group (n=50). Fasting venous blood was collected at the initial stage of admission or on the day of physical examination. HNL was detected by double antibody sandwich method, SAA and CRP were detected by nephelometry, and PCT was detected by chemiluminescence method. The efficacy of infection markers in the differential diagnosis of bacterial infection and viral infection in infected patients was evaluated. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic efficacy of HNL, SAA, PCT and CRP in bacterial and viral infectious diseases; Logistic regression was used to analyze the influence of each index on the diagnostic efficiency. The results showed that the levels of HNL (126.60±33.32) ng/ml, PCT (28.02±11.37) ng/ml and CRP (36.13±14.37) mg/L in bacterial infection group were significantly higher than those of HNL (47.72±15.94) ng/ml, PCT (1.27±0.40) ng/ml, CRP (18.77±10.66) mg/L in virus group and HNL (38.21±12.53) ng/ml, PCT (0.38±0.12) ng/ml and CRP (4.13±1.07) mg/L in control group. The level of HNL increased most significantly (F=89.228, P<0.05). The area under ROC curve (AUC) from large to small was HNL+SAA+PCT+CRP (0.976), HNL (0.907), PCT (0.885), CRP (0.856), SAA (0.790), SAA/CRP (0.733). The level of SAA/CRP in virus infection group (94.05±3.75) was significantly higher than that in bacteria group (17.70±3.69) and control group (3.89±1.50) (F=84.005, P<0.05). The area under ROC curve (AUC) from large to small was HNL+SAA+PCT+CRP (0.986), SAA/CRP (0.956), SAA (0.878), HNL (0.768), CRP (0.742), PCT (0.730). In conclusion, HNL has the best auxiliary diagnostic efficacy in bacterial infection, followed by PCT; SAA/CRP has the best auxiliary diagnostic efficacy in viral infection, followed by SAA; the combined detection of serum HNL, SAA, PCT and CRP may be helpful for the differential diagnosis of bacterial and viral infections.
Humans ; C-Reactive Protein ; Procalcitonin ; Serum Amyloid A Protein ; Retrospective Studies ; Virus Diseases/diagnosis* ; Bacteria ; Communicable Diseases ; Bacterial Infections/diagnosis*

OBJECTIVE: To compare the therapeutic effect between Fanzhen Jieci (warming acupuncture plus fast needling) combined with conventional acupuncture and simple conventional acupuncture on discogenic sciatica. METHODS: A total of 76 patients with discogenic sciatica were randomized into a Fanzhen Jieci group and a conventional acupuncture group, 38 cases in each one. Conventional acupuncture was applied at Shenshu (BL 23), Dachangshu (BL 25), L₁-L₅ Jiaji (EX-B 2) and Huantiao (GB 30) on the affected side, etc. in the conventional acupuncture group. On the basis of the treatment in the conventional acupuncture group, Fanzhen Jieci was applied at L₁-L₅ Jiaji (EX-B 2) and Huantiao (GB 30) on the affected side in the Fanzhen Jieci group, i.e. warming acupuncture was applied at L₁-L₅ Jiaji (EX-B 2), and fast needling was applied at Huantiao (GB 30) on the affected side for a depth of 40-60 mm, so as to introduce a sensation of electric shock transmitting to lower limb, and then the needle was immediately withdrawn. The treatment was given once every other day, 3 times a week for 3 weeks in both groups. The visual analogue scale (VAS) score of leg and low back pain, the Oswestry disability index (ODI) score and the 36-item short form health survey (SF-36) score before and after treatment were compared between the two groups. RESULTS: Compared before treatment, the VAS scores of leg and low back pain and the ODI scores after treatment were decreased in both groups (P<0.001), the changes of the VAS scores of leg and low back pain in the Fanzhen Jieci group were larger than those in the conventional acupuncture group (P<0.05). After treatment, except for the role emotional and health transition scores, the various scores of SF-36 were increased compared before treatment in the Fanzhen Jieci group (P<0.01); except for the role physical, role emotional and health transition scores, the various scores of SF-36 were increased compared before treatment in the conventional acupuncture group (P<0.01). After treatment, the physical functioning, role physical, bodily pain, mental health and general health scores of SF-36 in the Fanzhen Jieci group were higher than those in the conventional acupuncture group (P<0.05). CONCLUSION Fanzhen Jieci combined with conventional acupuncture can effectively relieve the pain and improve the mental state in patients with discogenic sciatica, its therapeutic effect is superior to simple conventional acupuncture.
Acupuncture Points ; Acupuncture Therapy ; Humans ; Low Back Pain/therapy* ; Sciatica/therapy* ; Treatment Outcome

To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.
Chromosome Mapping ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Retrospective Studies ; Translocation, Genetic

ObjectiveTo investigate the effect and mechanism of Guilu Erxiangao on Alzheimer's disease （AD） model rats induced by hydrocortisone and amyloid β-protein（Aβ） based on the theory of kidney-brain correlation. MethodIntraperitoneal injection of hydrocortisone and intracerebroventricular injection of Aβ were performed to induce AD in rats， and different concentrations of Guilu Erxiangao were used for intervention. The indexes of hippocampus， kidney and adrenal gland were measured， and the spatial learning and memory ability of AD rats was observed by Morris water maze experiment. The levels of testosterone （T） and corticosterone （CORT） in serum samples were determined by enzyme-linked immunosorbent assay （ELISA）. Liquid chromatography-mass spectrometry （LC-MS） was used to collect and analyze the serum metabolic data of model rats. The active components and corresponding targets of Guilu Erxiangao were collected using Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform（TCMSP）， a Bioinformatics Analysis Tool for Molecular mechANism of Traditional Chinese Medicine （BATMAN-TCM） and Traditional Chinese Medicine Integrated Database（TCMID）. GeneCards and Online Mendelian Inheritance in Man （OMIM） were retrieved to obtain AD-related targets， and protein-protein interaction （PPI） network was constructed to perform gene ontology （GO）and Kyoto Encyclopedia of Genes and Genomes （KEGG） enrichment analysis. The expression level of interleukin-6 （IL-6） in the hippocampus of rats was detected by Western blot. ResultCompared with the model group， the low-， medium- and high-dose groups of Guilu Erxiangao exhibited significantly increased hippocampus index， kidney index and adrenal gland index， reduced CORT levels in serum and down-regulated IL-6 levels in hippocampal tissues. According to the results of water maze experiment， as compared with the model group， the platform crossing times of rats was significantly increased in the low- and high-dose groups of Guilu Erxiangao， with evidently prolonged distance traveled in quadrant Ⅲ （%） and time in quadrant Ⅲ （%）. A total of 24 serum differential metabolites associated with AD were identified by LC-MS， and 50 high-frequency common compounds and 187 high-frequency common targets for AD treatment were screened by network pharmacology method. Results demonstrated phosphatidylinositol 3-kinases（PI3K）/protein kinase B（Akt） signaling pathway plays an important role in the complex AD pathological mechanism. ConclusionGuilu Erxiangao can significantly improve the cognitive dysfunction of AD model rats induced by hydrocortisone and Aβ， reduce serum CORT levels and IL-6 levels in hippocampal tissues， and regulate the metabolic level， which provides a reference for its clinical application.

Objective: To evaluate the effect of ultrasound diagnosis of thyroid micro-malignant nodules and accumulate practical experience for the management of active surveillance for them, so as to avoid overtreatment. Methods: A total of 949 patients who were diagnosed with thyroid malignant nodules using ultrasonography, with the nodules being less than 1 cm in size and without regional lymph node metastasis or distant metastasis, were included. They were treated by the same surgeon of the Department of Head and Neck Surgery, Cancer Hospital, Chinese Academy of Medical Sciences from February 2014 to December 2020. 112 patients chose immediate surgery. The rest patients were asked to accept ultrasound examination every 6 months to 1 year. Follow-up endpoints: tumor size growth of 3 mm, tumor volume increase greater than 50%, lymph node metastasis or distant metastasis. Results: The median follow-up time was 19 months. 713 patients underwent surveillance for more than 6 months. Of the 713 patients, 570 (79.9%) were women, with mean age at 43.5 years old. Tumor progression was observed in 47 (6.6%) patients with a cumulative incidence of 2.7% (1 year), 7.2% (2 years) and 9.5% (3 years). In multivariate analysis, patient age [HR=0.508, 95%CI: 0.275-0.939, P=0.031], lesion number [HR=2.945, 95%CI: 1.593-5.444, P=0.001] and tumor size [HR=2.245, 95%CI: 1.202-4.192, P=0.011] at the beginning of observation were independent risk factors for tumor progression in patients with minimal thyroid malignant nodules during follow-up. During a median (range) active surveillance of 19 (6-80) months, 74 patients chose surgery during the surveillance. Among the 186 patients who underwent surgery, only 3 patients were diagnosed with fibrotic nodules in pathology, while the rest were papillary thyroid carcinoma. The ultrasound accuracy reached 98.4%(183/186). Conclusions: Ultrasonography is an effective method of diagnosing malignant thyroid nodules. Thyroid micro-malignant nodules progress slowly. As a result, it is safe to observe them instead of taking immediate surgery. Patient age, lesion number and tumor size at the beginning of observation are independent risk factors for the tumor progression of malignant nodules.
Humans ; Female ; Adult ; Male ; Thyroid Nodule/surgery* ; Carcinoma, Papillary/surgery* ; Lymphatic Metastasis ; Thyroid Neoplasms/surgery* ; Thyroidectomy/methods* ; Watchful Waiting ; Ultrasonography ; Retrospective Studies

OBJECTIVE: To analyze the expression and prognostic value of metabolism-related genes in pediatric acute lymphoblastic leukemia (ALL), and explore the potential prognostic biomarkers or therapeutic targets. METHODS: Transcriptome data from 84 children with B-cell ALL at the time of diagnosis and prior to any treatment were used to analyze the differential gene expression. A prognostic scoring system based on the expression of the metabolism-related genes was constructed using Cox and Lasso regression methods. The prognostic value of the scoring system was further assessed by multivariate Cox regression analysis. Gene set enrichment analysis was carried out by using GSEA software. RESULTS: Among the 933 metabolism-related genes, 14 up-regulated genes and 17 down-regulated genes were identified as differentially expressed genes. In addition, 8 up-regulated genes (ASS1, CKM, PTGES, ADCY5, HNMT, PHGDH, CYP4F3, AADAT) and 4 down-regulated genes (GDA, DHRS9, IDO2, UGT2B4) were selected to establish a novel prognostic scoring system. Patients in the high-risk group showed poorer survival significantly than patients in the low-risk group (P<0.05). The prognostic scoring system was still shown to be an independent prognostic factor for the survival of children with ALL after the clinical characteristics, such as gender, age, white blood cell count at initial diagnosis, cytogenetics and molecular genetics were included (HR=8.906, 95%CI: 3.114-25.470). GSEA results showed that 6 metabolism-related pathways (amino sugar and nucleotide sugar metabolism, arginine and proline metabolism, fructose and mannose metabolism, glyoxylate and dicarboxylate metabolism, pyrimidine metabolism, selenoamino acid metabolism) were enriched in the high-risk group. CONCLUSION The abnormal metabolism-related gene expression is associated with the clinical outcome of children with ALL, and these results provide potential novel prognostic biomarkers and treatment targets for pediatric ALL.
Gene Expression Profiling ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Prognosis ; Transcriptome