Objective:To explore the screening value of platelet parameters from blood cell analysis for MYH9-related disorders(MYH9-RD).Methods:A cross-sectional study was conducted with 38 patients diagnosed with MYH9-RD at Shenzhen Children's Hospital from May 1, 2016, to August 31, 2024, including 24 males and 14 females; the median age was 11.5 (3.8, 35) years; categorized by gene mutation location into "head region" ( n=8 ) and "tail region" ( n=30); and by clinical manifestations into " isolated hematological manifestations" ( n=16) and "hematological manifestations with extra-hematological involvement"( n=22). The control groups included 39 cases of immune thrombocytopenia (ITP), 38 cases of acute lymphoblastic leukemia (ALL), and 40 healthy individuals. Platelet-related parameters were detected by hematology analyzer, and platelet counts and sizes were confirmed by manually counting and microscopic observation. Kruskal-Wallis test was used to compare platelet parameters between MYH9-RD and control groups. Receiver operating characteristic (ROC) curves were used to assess the diagnostic efficacy of platelet parameters for MYH9-RD. Results:In MYH9-RD patients the median value of mean platelet volume (MPV) was 13.4 (11.2, 14.7) fl, immature platelet fraction (IPF) was 52.7% (43.5%, 58.0%), platelet large cell ratio(PLCR) was 57.6 %(45.0%, 62.9%), and microscopic large platelet ratio (PLCR-M) was 30.0% (25.0%, 30.0%).And those values weresignificantly higher than in ITP, ALL, and healthy controls (all P<0.05). Patients with MYH9 gene "head region" mutations had a lower platelet count [24.5 (15.0, 47.5)×10 9/L]than those with "tail region" mutations [69.0 (49.5, 86.3) ×10 9/L]( Z=-3.493, P<0.001), but a higher IPF ( t=2.024, P=0.044).Patients with "extra-hematological involvement had a lower platelet count than those with "isolated hematological manifestations" ( t=-2.015, P=0.043). The optimal cutoff value for diagnosing MYH9-RD with IPF was 26.7%, with a sensitivity of 100% and specificity of 98.7%; the area under the curve was 0.999 (95% CI 0.995-1.000), which was superior toMPV, PLCR and PLCR-M parameters. Conclusion:IPF is superior to other platelet parameters sush as MPV,showing high diagnostic efficacy in distinguishing MYH9-RD from ITP and ALL. It can be used as a simple and effective indicator for early screening of MYH9-RD.

In recent years,protein and polypeptide drugs have developed rapidly and have been widely used to treat cancer,hepatitis,and other diseases.The activity of proteins and polypeptides is closely related to their structure.Protein structures can be divided into four levels:primary,secondary,tertiary,and quaternary structures.The primary structure determines the advanced structure and biological functions of proteins.To ensure drug safety,it is necessary to carry out structural characterization and quality control.The advanced structure is the basis for proteins to express their functions and activities,and changes in spatial structure can lead to alterations in functions.This article reviews the progress of research on the primary and advanced structure characterization of proteins and polypeptides,including techniques such as reversed-phase high-performance liquid chromatography,Edman degradation,mass spectrometry,and spectroscopy.It aims to provide a reference for the structural characterization and quality control of other protein and polypeptide drug products.

To formulate an expert consensus on the principles of preoperative hair removal and provide scientific guidance for standardized removal of hair before surgical procedures so as to reduce the incidence of surgical site infections.METHODS Led by the Hospital Management Institute of National Health Commission of the People's Republic of China,this consensus was reached with the joint efforts from the expects of relevant fields such as surgeries,interventional therapies,nursing,and infection prevention and control.The consensus facilitates the classification and evaluation of literatures by following the evidence grade formulated by Oxford Evidence-based Medicine Center and focuses on the association of preoperative hair removal with surgical site infection,it reaches the evidence grade of expert consensus and recommendation intensity by integrating with discussions on meetings and clinical experience of the expects from relevant fields.RESULTS A total of 6 items of consensus were reached by summarizing the latest evidence on the aspects including the indications for preoperative hair removal,tools,range,timing and places.CONCLUSION The consensus,to some extent,make supplements to and complete the exiting regulations and standards.It provides guidance for the medical institutions to carry out the preoperative hair removal.

In recent years,protein and polypeptide drugs have developed rapidly and have been widely used to treat cancer,hepatitis,and other diseases.The activity of proteins and polypeptides is closely related to their structure.Protein structures can be divided into four levels:primary,secondary,tertiary,and quaternary structures.The primary structure determines the advanced structure and biological functions of proteins.To ensure drug safety,it is necessary to carry out structural characterization and quality control.The advanced structure is the basis for proteins to express their functions and activities,and changes in spatial structure can lead to alterations in functions.This article reviews the progress of research on the primary and advanced structure characterization of proteins and polypeptides,including techniques such as reversed-phase high-performance liquid chromatography,Edman degradation,mass spectrometry,and spectroscopy.It aims to provide a reference for the structural characterization and quality control of other protein and polypeptide drug products.

To formulate an expert consensus on the principles of preoperative hair removal and provide scientific guidance for standardized removal of hair before surgical procedures so as to reduce the incidence of surgical site infections.METHODS Led by the Hospital Management Institute of National Health Commission of the People's Republic of China,this consensus was reached with the joint efforts from the expects of relevant fields such as surgeries,interventional therapies,nursing,and infection prevention and control.The consensus facilitates the classification and evaluation of literatures by following the evidence grade formulated by Oxford Evidence-based Medicine Center and focuses on the association of preoperative hair removal with surgical site infection,it reaches the evidence grade of expert consensus and recommendation intensity by integrating with discussions on meetings and clinical experience of the expects from relevant fields.RESULTS A total of 6 items of consensus were reached by summarizing the latest evidence on the aspects including the indications for preoperative hair removal,tools,range,timing and places.CONCLUSION The consensus,to some extent,make supplements to and complete the exiting regulations and standards.It provides guidance for the medical institutions to carry out the preoperative hair removal.

Objective:To explore the screening value of platelet parameters from blood cell analysis for MYH9-related disorders(MYH9-RD).Methods:A cross-sectional study was conducted with 38 patients diagnosed with MYH9-RD at Shenzhen Children's Hospital from May 1, 2016, to August 31, 2024, including 24 males and 14 females; the median age was 11.5 (3.8, 35) years; categorized by gene mutation location into "head region" ( n=8 ) and "tail region" ( n=30); and by clinical manifestations into " isolated hematological manifestations" ( n=16) and "hematological manifestations with extra-hematological involvement"( n=22). The control groups included 39 cases of immune thrombocytopenia (ITP), 38 cases of acute lymphoblastic leukemia (ALL), and 40 healthy individuals. Platelet-related parameters were detected by hematology analyzer, and platelet counts and sizes were confirmed by manually counting and microscopic observation. Kruskal-Wallis test was used to compare platelet parameters between MYH9-RD and control groups. Receiver operating characteristic (ROC) curves were used to assess the diagnostic efficacy of platelet parameters for MYH9-RD. Results:In MYH9-RD patients the median value of mean platelet volume (MPV) was 13.4 (11.2, 14.7) fl, immature platelet fraction (IPF) was 52.7% (43.5%, 58.0%), platelet large cell ratio(PLCR) was 57.6 %(45.0%, 62.9%), and microscopic large platelet ratio (PLCR-M) was 30.0% (25.0%, 30.0%).And those values weresignificantly higher than in ITP, ALL, and healthy controls (all P<0.05). Patients with MYH9 gene "head region" mutations had a lower platelet count [24.5 (15.0, 47.5)×10 9/L]than those with "tail region" mutations [69.0 (49.5, 86.3) ×10 9/L]( Z=-3.493, P<0.001), but a higher IPF ( t=2.024, P=0.044).Patients with "extra-hematological involvement had a lower platelet count than those with "isolated hematological manifestations" ( t=-2.015, P=0.043). The optimal cutoff value for diagnosing MYH9-RD with IPF was 26.7%, with a sensitivity of 100% and specificity of 98.7%; the area under the curve was 0.999 (95% CI 0.995-1.000), which was superior toMPV, PLCR and PLCR-M parameters. Conclusion:IPF is superior to other platelet parameters sush as MPV,showing high diagnostic efficacy in distinguishing MYH9-RD from ITP and ALL. It can be used as a simple and effective indicator for early screening of MYH9-RD.

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.

ObjectiveTo investigate the changes of surface electromyography (sEMG) of the flexors and extensors of the affected fingers after manual digitorum sensory stimulation (MDSS) in the hemiplegic patients after stroke. MethodsFrom April to August, 2020, 50 stroke patients in Department of Rehabilitation Medicine, the Second Hospital of Anhui Medical University accepted MDSS on the nail beds and the third knuckles of affected fingers, until the fingers extended actively. The tension of affected flexor pollicis brevis, flexor digitorum superficialis and extensor digitorum were assessed with modified Ashworth Scale (MAS) before and immediately after stimulation; while the root mean square (RMS) of sEMG of bilateral flexor pollicis brevis, flexor digitorum superficialis and extensor digitorum were recorded. ResultsThe MAS score of all the muscles decreased after stimulation (|Z| > 2.699, P < 0.01), while the RMS of affected extensor digitorum increased (t = -2.069, P < 0.05). Compared with the unaffected ones, RMS of affected flexor pollicis brevis and extensor digitorum decreased before and after stimulation (t > 2.450, P < 0.05). ConclusionMDSS may immediately relieve the spasm of flexors of hemiplegic fingers after stroke, which associates with the promoting muscle strength of the extensors.

Objective:To identify gene variants and investigate clinical features of nonmuscle myosin heavy chain 9-related disease (MYH9-RD).Methods:In this retrospective study, the data of patients with MYH9-RD admitted to Shenzhen Children′s Hospital from July 2017 to September 2020 were extracted. The gene variants, clinical features and laboratory tests results were summarized.Results:Among the 6 children, 4 were males and 2 were females, aged 4.0 (0.5-7.6) years. Main clinical manifestations included thrombocytopenia (6 cases), epistaxis (3 cases), petechias (2 cases), traumatic hematoma (1 case), and abnormal liver enzymes (1 case). One patient had no family history, and the other 5 cases were pedigrees. Two pedigrees (2 cases) had long-term microscopic hematuria, one pedigree (2 cases) had history of early cataract, and three pedigrees (5 cases) had chronic mild elevation of liver enzymes. Four MYH9 gene variants were found in 12 patients, including c.2104C>T(p.R702C) in exon 17, c.4270G>A(p.D1424N) in exon 31, c.5521G>A (p.E1841K) in exon 39, and c.5797C>T (p.R1933X) in exon 41. According to the family pedigrees analysis, except for the case of variant in exon 17 which was spontaneous mutation with no family history, the other variants were from their father or mother. The complete blood count results showed a decreased platelet number in these patients, and the counting results of the automated hematology analyzer were significantly lower than that of manual counting method ((33.4±17.2) × 10? vs. (60.4±21.0) × 10 9/L, t=-5.83, P<0.05). The examination of the peripheral blood smear revealed the presence of thrombocytopenia with giant platelets and granulocyte inclusion bodies. The MYH9 gene variant (R702C) located at the N-terminus head domain of non-muscle myosin heavy chain ⅡA (NMMHC-ⅡA), which has ATPase activity, led to severe reduction of platelet number (<20×10 9/L) and obscure granulocyte inclusion bodies. However, higher platelet numbers (40×10 9-80×10 9/L) and obvious granulocyte inclusion bodies were observed in patients with tail-position mutations at C-terminus. Conclusions:The clinical phenotypes of MYH9-RD were variable. The mutations in certain regions of MYH9 gene were related to platelet count and granulocyte inclusion bodies. MYH9-RD should be considered in individuals with unknown etiology and persistent thrombocytopenia which is non-responsive to conventional treatment, regardless of family history. Complete blood count and blood smear morphology examinations are the first steps to screen and diagnose the disease. The laboratory should pay attention to the morphological review rules and standardized reports.

OBJECTIVE： To investigate how pharmacists provide through individualized pharmaceutical care for patients medication therapy management（MTM） combined with medicine gene detection， and to promote rational drug use in clinic.METHODS： A case of elderly comorbidity with acute upper gastrointestinal hemorrhage caused by Warfarin sodium tablets was taken as an example. The patient had a history of type 2 diabetes mellitus and hypertension. Coronary artery bypass grafting was performed two months before admission， and urinary tract infection occurred half a month ago. Medication therapy course was analyzed retrospectively before and after hospitalization； based on gene typing detection of CYP2C9*3 and VKORC1-1639， the individualized dose of Warfarin sodium tablets was evaluated. MTM was perfomed for acute upper gastrointestinal hemorrhage and all medication of patient to formulate individualized medication scheme. RESULTS： The genotyping of warfarin CYP2C9*3 and VKORC1-1639 indicated that the patients were of super slow metabolic type. The recommended dosage of warfarin should be 0.86-1.86 mg/d. Based on MTM analysis of acute upper gastrointestinal hemorrhage， the main causes of acute upper gastrointestinal hemorrhage were Warfarin sodium tablets 3.0 mg/d， poor drug compliance， disease status and co-morbidity and multi-drug combination. Clinical gastrointestinal hemorrhage of the patients were improved after drug withdrawal， anticoagulant drugs was changed into Rivaroxaban tablet，10 mg/d. Through MTM for all drug use in the patient， results of medication reorganization showed that Diltiazem hydrochloride tablet， Amoxicillin/clavulanate potassium dispersible tablet， Compound vitamin tablet were stopped； hypoglycemic drug Glimepiride tablet was changed into Gliquidone tablet； Metoprolol tartrate tablet was changed into Bisoprolol tablet after coronary artery bypass graft； proton pump inhibitor Esomeprazole enteric-coated tablet was changed into Pantoprazole sodium enteric-coated capsule. CONCLUSIONS： The pharmaceutical care mode of MTM combined with medicine gene detection can guide rational drug use in clinic， realize individualized pharmaceutical care， improve patient compliance and prevent problems related to adverse drug reactions.