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.

Flos Trollii is a traditional Chinese medicinal herb in China. The 2020 edition of the Chinese Pharmacopoeia （part 1） did not include the medicinal herb， its source is not clear， and there is a lack of relevantly systematic and comprehensive research. By consulting ancient Chinese herbal medicines， medical books and related literature， the textual research of Flos Trollii was conducted to verify the name， origin and producing area， so as to provide a reference for the clinical application and resource development of Flos Trollii. Through textual research， it could be seen that the name “Jinlianhua” was used as the correct name in the mainstream origin of the past dynasties， and there were still multiple synonyms such as Hanjinlian， Jinmeicao and so on， most of which originated from its growth environment and appearance. According to the distribution of varieties， it could be inferred that the mainstream origin of Flos Trollii in the Qing Dynasty and before was Trollius chinensis Bge. According to historical records， Flos Trollii were mostly produced in northern regions such as Hebei， Inner Mongolia， Shanxi， etc.， which was related to the fact that Flos Trollii liked cloudy， humid and cold environments. Based on the textual research results， the author suggested that the mainstream origin of the past dynasties T. chinensis Bge. should be selected for subsequent collection of Flos Trollii.

Background: Cardiopulmonary resuscitation (CPR) strategies in COVID-19 patients differ from those in patients suffering from cardiogenic cardiac arrest. During CPR, both healthcare and non-healthcare workers who provide resuscitation are at risk of infection. The Working Group for Expert Consensus on Prevention and Cardiopulmonary Resuscitation for Cardiac Arrest in COVID-19 has developed this Chinese Expert Consensus to guide clinical practice of CPR in COVID-19 patients. Main recommendations: 1) A medical team should be assigned to evaluate severe and critical COVID-19 for early monitoring of cardiac-arrest warning signs. 2) Psychological counseling and treatment are highly recommended, since sympathetic and vagal abnormalities induced by psychological stress from the COVID-19 pandemic can induce cardiac arrest. 3) Healthcare workers should wear personal protective equipment (PPE). 4) Mouth-to-mouth ventilation should be avoided on patients suspected of having or diagnosed with COVID-19. 5) Hands-only chest compression and mechanical chest compression are recommended. 6) Tracheal-intubation procedures should be optimized and tracheal-intubation strategies should be implemented early. 7) CPR should be provided for 20-30 min. 8) Various factors should be taken into consideration such as the interests of patients and family members, ethics, transmission risks, and laws and regulations governing infectious disease control. Changes in management: The following changes or modifications to CPR strategy in COVID-19 patients are proposed: 1) Healthcare workers should wear PPE. 2) Hands-only chest compression and mechanical chest compression can be implemented to reduce or avoid the spread of viruses by aerosols. 3) Both the benefits to patients and the risk of infection should be considered. 4) Hhealthcare workers should be fully aware of and trained in CPR strategies and procedures specifically for patients with COVID-19.

OBJECTIVE: To carry out genome-wide copy number variations (CNVs) analysis for a boy with autism by using single nucleotide polymorphism array (SNP array). METHODS: SNP array analysis was conducted for the boy and his parents, and the data was validated by real-time PCR. Correlation between the deleted genes and the phenotype was analyzed by reviewing the literature. RESULTS: The patient was found to carry a terminal deletion of 18q22.3q23 (7.1 Mb), which involved FBXO15, ZNF407, ZADH2, TSHZ1, MBP and ADNP2 genes. No pathogenic CNVs were found in the parents. Comparison of the patient with cases reported in the literature suggested that the ZNF407 gene probably accounts for the autistic phenotype in these patients. CONCLUSION The autistic phenotype of the patient may be attributed to the 18q deletion, for which ZNF407 may be a critical candidate. SNP array has provided an useful tool for the study of molecular mechanism underlying autism.
Autistic Disorder ; genetics ; DNA Copy Number Variations ; Humans ; Male ; Microarray Analysis ; Polymorphism, Single Nucleotide

OBJECTIVE: To carry out single nucleotide polymorphism (SNP)-based chromosome microarray analysis (CMA) for a boy featuring global developmental delay. METHODS: The SNP array was conducted for the child, and real-time PCR was used to validate its result and identify the origin of pathological copy number variants. RESULTS: SNP array revealed that the patient has carried a de novo 2.5 Mb duplication at 2q22.3q23.3, which encompassed ACVR2A, KIF5C, MBD5, EPC2, LYPD6, LYPD6, MMADHC and ORC4 genes. Literature review suggested that the MBD5 gene from the duplicated region may have predisposed to the global developmental delay shown by the girl. CONCLUSION The patient's clinical phenotype was consistent to that of 2q23 duplication, for which the MBD5 gene may play a key role. CMA has provided an important tool for the diagnosis of patients with global developmental delay.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 2 ; DNA Copy Number Variations ; DNA-Binding Proteins ; genetics ; Female ; Genotype ; Humans ; Kinesin ; Phenotype

Parkinson's drug-induced dyskinesia is a common complication after levodopa treatment,and its clinical manifestations are complex.A case of Parkinson's L-dopa-induced dyskinesia misdiagnosed as epilepsy in our hospital is reported.The patient,a 69-year-old male,was hospitalized on May 2,2018 due to "15 years of retardation,recurrent limb twitching with breathing for more than 6 months,sudden loss of consciousess for 10 minutes".The patient took madopar for a long time and had obvious drug complications.In July 2017,the use of rasagiline improved manifestations slightly.In November 2017,repeated limb twitches began to occur.The onset time ranged from several minutes to one hour,and there was a gradual occurrence of twitching accompanied by obvious breathing.On May 1,2018,the patient was sent to our hospital for emergency treatment after limb twitching again.Due to the long-term history of hormone use,and tranquilizers and antiepileptic drugs were used to control the condition of the patient,the patient was misdiagnosed as epilepsy at first.With the adjustment of drugs and the change of condition,the patient was finally diagnosed as Parkinson's L-dopa-induced dyskinesia.The clinical manifestations of the disease include peak dyskinesia,bipolar dyskinesia and dystonia.The pathogenesis of Parkinson's disease is not completely clear and its clinical manifestations are diverse.However,there are few reports of Parkinson's disease,whose manifestation is loss of consciousness due to paroxysmal breath holding and hypoxemia.Therefore,in order to diagnose epilepsy in patients with Parkinson's disease,the possibility of dyskinesia should be excluded first.Therefore,the rational use of drugs is particularly important in the middle and late period of Parkinson's disease.

This article illuminates the status quo, shortcomings and prospects of follow-up visit at home and abroad by retrieving and summarizing the related studies on follow-up visit for enterostomy at home and abroad. It reviews the nurse-led follow-up visit from the perspective of continued nursing care, in order to provide a reference for China to further standardize the follow-up content for patients with enterostomy.

OBJECTIVETo explore the clinical features and genomic abnormality of a patient with Coffin-Siris syndrome.

METHODSMicrodeletion and microduplication were detected with chromosomal microarray analysis (CMA) and verified with real-time quantitative PCR.

RESULTSThe patient, a 6-month-old boy, featured global development delay, thick eyebrows, low frontal hairline, long eyelash, flat nasal bridge, hypotonia, difficulty in turning over, over stretching of head, and hypoplatic nails. He could not stand stability or actively grasp. He also has characteristics of rickets. Chromosome karyotype of the patient was normal. Genomic analysis has detected a 1.3 Mb deletion in 6q25.3 region encompassing the ARID1B gene. Neither of his parents was found to harbor the same deletion.

CONCLUSIONThe 6q25.3 microdeletion probably underlies the Coffin-Siris syndrome in this patient, and rickets may be part of its clinical spectrum.

Objectives To explore the association between the single nucleotide polymorphism (SNP) rs2239669 in makorin ring-finger protein 3 (MKRN3) gene and the susceptibility to central precocious puberty (CPP). Methods A case-control study including 246 children with CPP and 269 healthy children was performed.The genotype and MKRN3 expression levels of patients were analyzed by PCR-HRM and RT-PCR,respectively. Results SNP rs2239669 genotype (TT,TC,CC) and allele frequencies (T and C) were different between cases and controls,with higher CC genotype in CPP patients. Under recessive model (CC/TT+TC),CC genotype was higher in CPP group and associated with higher risk of CPP (95%CI:1.062-2.143,P=0.021). MKRN3 expression levels were different among patients with different genotypes,of which TT genotype had the highest level followed by TC and CC (0.376±0.094, 0.330±0.068, 0.250±0.072, P=0.041). Conclusions MKRN3 SNP rs2239669 was associated with increased risk of CPP, and patients with TT genotype had higher MKRN3 levels.

Objective To investigate the clinical manifestations and motor neuron and pancreas homeobox 1 (MNX1) gene mutation features of Currarino syndrome.Methods Microdeletion and microduplication of the patients were detected by chromosomal microarray analysis (CMA),and literature review was performed for the clinical syndrome of Currarino syndrome with similar genotype.Results Two patients with Currarino syndrome were recruited in this study.Patient 1,a 7-day girl,came to hospital because of recurrent vomiting.Physical examinations showed coarse facial features,vision problems,serious abdominal flatulence and anal stenosis.Bowel imaging revealed malrotation of the midgut;and the magnetic resonance imaging (MRI) showed tethered spinal cord and malformation of sacrococcygeal vertebra.A 7.89 Mb deletion in chromosome 7 q36.lq36.3 region including MNX1 gene and a 2.20 Mb duplication in 14q32.33 area was found by using CMA.Patient 2,a 1 year and 3 months girl,came to hospital with global development delay.Clinical examination showed facial dysmorphic,growth retardation,intellectural disability,ptosis in right eye and anal stenosis.This patient had developmental retardation in language and movement.MRI showed spina bifida occulta.And a 15.00 Mb deletion in chromosome 7 q35q36.3 region was found including MNX1 gene.Literature review revealed that deletions in MNX1 gene led to Currarino syndrome with coarse facial features,growth retardation and intellectural disability,and this type of Currarino syndrome had not been reported in China.Conclusions Two cases of Currarino syndrome caused by microdeletion in 7q36 are reported for the first time in China,and this study can help clinicians to have a better understanding of this disease.