Objective To investigate the optimal timing for glucocorticoid therapy in Duchenne muscular dystrophy(DMD)and analyze the relationship between loss of ambulation(LoA)and dystrophin(DMD)gene mutation types.Methods Clinical and genetic data of DMD patients diagnosed at Hunan Children's Hospital from May 2008 to May 2021 were retrospectively analyzed.Cox proportional hazards model was used to evaluate the impact of glucocorticoid initiation age,rehabilitation duration,and genotype on independent ambulation time.Results A total of 437 patients(aged 3-6 years)were enrolled,with muscle weakness being the primary presenting symptom.Genetic testing revealed deletions(289 cases,61.1％),point mutations(148 cases,31.3％),and duplications(36 cases,7.6％)in the DMD gene.Nonsense mutations predominated among point mutations(72/148,64.3％).Patients initiating glucocorticoids at 3-5 years showed significantly delayed LoA versus untreated patients[P<0.1,HR=0.47,median age 13(13-NA)].Patients with exon 43(Exon43)deletions experienced significantly earlier LoA than other genotypes[P<0.1,HR=3.04,median age 10(10-NA)].Rehabilitation>1 year significantly delayed LoA compared to no rehabilitation.Conclusion Optimal glucocorticoid initiation occurs at 3-5 years of age;rehabilitation exceeding 1 year prolongs independent ambulation;Exon43 deletions predict earlier LoA,informing clinical trial design.

OBJECTIVE To explore optimization pathways for the drug traceability code management model in outpatient pharmacy workflows， providing practical evidence for enhancing the efficiency of pharmaceutical service. METHODS Taking the outpatient pharmacy of the First Affiliated Hospital of Sun Yat-sen University as the research subject， a comprehensive drug traceability system was established through three key interventions： upgrading the information system architecture [including integration of the hospital information system （HIS） with the traceability platform]， workflow optimization （reorganizing the inventory-dispensing-verification tripartite process）， and designing a dual-mode traceability data collection mechanism （primary data capture at dispensing stations and supplementary capture at verification stations）. Operational efficiency differences before and after implementation were analyzed using the medical insurance data and service timeliness metrics in September 2024. RESULTS After the implementation of drug traceability code management， in terms of data collection: Mode Ⅰ （verification-stage capture） uploaded 26 144 records， while Mode Ⅲ （inventory-as-sales capture） uploaded 443 061 records， totaling 469 205 entries； in terms of time efficiency： average drug dispensing time increased from 28.74 s to 43.37 s （enhanced by 51%）. Through dynamic staffing adjustments， patient wait time only extended from 8.04 min to 8.67 min （enhanced by 8%）. CONCLUSIONS Drug traceability code management can be effectively implemented via a “system reconstruction-process reengineering-human-machine collaboration” trinity strategy， leveraging informatization （e.g.， dual-mode data capture） to offset manual operation delays， which validates the feasibility of balancing national traceability demands with service efficiency in outpatient pharmacies.

Objective To investigate the optimal timing for glucocorticoid therapy in Duchenne muscular dystrophy(DMD)and analyze the relationship between loss of ambulation(LoA)and dystrophin(DMD)gene mutation types.Methods Clinical and genetic data of DMD patients diagnosed at Hunan Children's Hospital from May 2008 to May 2021 were retrospectively analyzed.Cox proportional hazards model was used to evaluate the impact of glucocorticoid initiation age,rehabilitation duration,and genotype on independent ambulation time.Results A total of 437 patients(aged 3-6 years)were enrolled,with muscle weakness being the primary presenting symptom.Genetic testing revealed deletions(289 cases,61.1％),point mutations(148 cases,31.3％),and duplications(36 cases,7.6％)in the DMD gene.Nonsense mutations predominated among point mutations(72/148,64.3％).Patients initiating glucocorticoids at 3-5 years showed significantly delayed LoA versus untreated patients[P<0.1,HR=0.47,median age 13(13-NA)].Patients with exon 43(Exon43)deletions experienced significantly earlier LoA than other genotypes[P<0.1,HR=3.04,median age 10(10-NA)].Rehabilitation>1 year significantly delayed LoA compared to no rehabilitation.Conclusion Optimal glucocorticoid initiation occurs at 3-5 years of age;rehabilitation exceeding 1 year prolongs independent ambulation;Exon43 deletions predict earlier LoA,informing clinical trial design.

Objective:To investigate the clinical features, treatments and prognoses of children with antibody-mediated central nervous system (CNS) autoimmune diseases.Methods:Two hundred and seven children with antibody-mediated CNS autoimmune diseases confirmed by anti-neuronal antibody detection in blood and/or cerebrospinal fluid in Department of Neurology, Children's Hospital of Hunan Province from June 2014 to May 2022 were enrolled. Their clinical features, laboratory and imaging data, treatment regimens and prognoses were retrospectively analyzed.Results:Of the 207 children, 117 were positive for anti- N-methyl- D-aspartate receptor (NMDAR) antibodies, 63 for anti-myelin oligodendrocyte glycoprotein (MOG) antibodies, 32 for anti-glial fibrillary acidic protein (GFAP) antibodies, 6 for anti-contactin-associated protein-like 2 (CNTNAP2) antibodies, 3 for anti-aquaporin 4 (AQP4) antibodies, 2 for anti-gamma-aminobutyric acid type B receptor (GABABR) antibodies, and 1 for anti-anti-leucine-rich glioma-inactivated 1 (LGI1) antibodies. Acute disseminated encephalomyelitis (ADEM) was the most common clinical phenotype among the children, followed by optic neuritis (ON). Behavioral abnormalities, seizures, and involuntary movements were the most common clinical presentations of anti-NMDAR encephalitis for these children, while fever, headache, and disturbance of consciousness or vision were the most common symptoms for children with MOG antibody disease or autoimmune GFAP astrocytopathy. The coexistence of multiple anti-neural antibodies was detected in 17 patients, among which 10 had coexistent anti-NMDAR and anti-MOG antibodies (including 1 with anti-GFAP antibody), 3 had coexistent anti-NMDAR and anti-GFAP antibodies, 3 had coexistent anti-MOG and anti-GFAP antibodies, 2 had coexistent anti-NMDAR and anti-CASPR2 antibodies, and 1 had coexistent anti-GABABR and anti-CASPR2 antibodies. In our cohort, of the 202 children examined for cerebrospinal fluid, 154 had cerebrospinal fluid leukocytosis and 27 had elevated protein. Of the 203 children had electroencephalography, 179 was abnormal; abnormal EEG was mainly manifested as focal or global slow waves, and epileptic discharge in some children; 205 patients received immunotherapy. All survivors were followed up for at least 6 months; 164 recovered completely, 40 had varied sequelae, and 3 died; 28 had one or more relapses. Conclusion:Antibody-mediated CNS autoimmune diseases occur in children at all ages; most such pediatric patients have good response to immunotherapy, enjoying low mortality rate; however, some survivors have relapsing risk.

Botulinum toxin is a potent protein toxin produced by Clostridium botulinum. It acts directly on the brain nerve nucleus and peripheral neuromuscular junction, blocking the release of acetylcholine and thereby affecting nerve impulse transmission, ultimately leading to muscle paralysis. Mild cases may present with ocular muscle involvement, whereas severe cases may involve dysphagia, general paralysis, respiratory depression, and even death. This article reports on a patient who experienced severe poisoning symptoms after using type A botulinum toxin obtained through informal channels. The patient was treated with antitoxin on the 13th day after symptoms onset and achieved a significant improvement in their condition.

Botulinum toxin is a potent protein toxin produced by Clostridium botulinum. It acts directly on the brain nerve nucleus and peripheral neuromuscular junction, blocking the release of acetylcholine and thereby affecting nerve impulse transmission, ultimately leading to muscle paralysis. Mild cases may present with ocular muscle involvement, whereas severe cases may involve dysphagia, general paralysis, respiratory depression, and even death. This article reports on a patient who experienced severe poisoning symptoms after using type A botulinum toxin obtained through informal channels. The patient was treated with antitoxin on the 13th day after symptoms onset and achieved a significant improvement in their condition.

Objective:To report 2 young infants of sodium channel related epilepsy with SCN2A gene mutation, and to discuss the clinical characteristics of the disease and the efficacy and safety of lacosamide combined with the literature.Methods:Corresponding information of 2 children hospitalized in the Department of Neurology of Hunan Children′s Hospital in July 2021 and October 2021 was collected, including the symptoms, comprehensive physical examination, blood, cerebrospinal fluid, imaging, electrophysiological examination, diagnosis and treatment process, response to treatment and other clinical data, as well as the sequencing results of the whole exome of the children. The efficacy and safety of lacosamide were analyzed, and the related literatures of the Biomedical Literature Database, Wanfang Data Knowledge Service Platform and Chinese Knowledge Infrastructure Database were searched and reviewed.Results:Both of the 2 cases were girl. Their onset age was within 3 months. The initial symptoms were frequent convulsions and backward development. There was no structural abnormality in the head image. The convulsions could not be controlled according to conventional multidrug treatment. The seizures were quickly controlled with lacosamide. Now they have been followed up for 6 months. No obvious adverse reactions were found. Case 1 gene test results showed the SCN2A gene (chr2:166152333-166246334) heterozygous deletion, SCN1A gene (chr2:166847754-16693013) heterozygous deletion, the deletion size being about 5.72 Mb. Case 2 gene test results showed new missense mutation of SCN2A (c.1285G>A, p.Glu429Lys). There were dozens of seizures every day. They were treated with valproic acid, oxcarbazepine and levetiracetam successively. The seizures could not be controlled. Three focal seizures originated in the left temporal region were detected by electroencephalogram. There was no recurrence on the third day after adding lacosamide, and there was no attack after 5 months of follow-up. No obvious adverse reactions were found during follow-up.Conclusions:Sodium channel related epileptic encephalopathy often starts early, has frequent seizures, and can be accompanied by backward psychomotor development at the same time. The slow sodium channel blocker lacosamide has good efficacy and safety in the treatment of sodium channel-related epilepsy with SCN2A gene mutation or combined SCN1A gene mutation.

OBJECTIVE:To improve the management of automatic medicine packaging machine(ATC),so as to improve drug dispensing management. METHODS:The short-plate effect of“cask theory”was used to analyze the deficiency of ATC in soft-ware,hardware and management;pertinent improvement was conducted and its effects were evaluated. RESULTS & CONCLU-SIONS:Considering the deficiency of ATC software function,automatic form export function had been set up additionally,involv-ing form of adding and dismounting drug information,form of repeated medical order. Some improvement were carried out for fre-quent machine halt in hardware,such as adjusting the height of drug box and using spare drug groove;some carried out for incon-sistency between the accounts and drugs due to management defects,such as fixing post,improving adding drug information input. Compared with before improvement,daily times of machine halt during packaging had cut from 13.8 times to 2.3 times(decreased by 83.3%);daily total time of machine halt had shortened from 97.4 minutes to 9.6 minutes(shortened by 90.14%);the rate of packaging had increased from 14.3 packages/min to 23.33 packages/min(increased by 62.9%);the management of drug stock be-came more standard. The application of“cask theory”in the improvement of ATC can promote the quality of drug dispensing man-agement.

OBJECTIVE:To shorten time consuming for dispensing mode of automatic medicine packaging machine(ATC), and improve the efficiency of ATC. METHODS:In the inpatient pharmacy of our hospital,previous dispensing mode that two ATC matched with one tablet case separately was replaced by new mode,i.e. one ATC(another ATC was on standby)matched with two tablet cases(one of them added medicine beforehand),and the information of drug-position coordinate was equipped. The time con-sumed,average daily number of packages,financial expenses and labor costs were recorded and analyzed to evaluated the effect of new mode. RESULTS & CONCLUSIONS:Compared with previous mode,new dispensing mode improve the efficiency of ATC greatly. In previous mode,two ATCs and four pharmacists work simultaneously and spend 4.5 hours for 3 850 bags of medicine, which cost 4 400 000 yuan;in new mode,only one ATC and three pharmacists work simultaneously,and spend 3.0 hours for 4 015 bags of medicine,which cost 2 350 000 yuan. Therefore,double-universal tablet cases greatly improves the efficiency of ATC and reduce the financial expenses as machine maintenance and labor cost.

Objective Understand shunde Uistrict Foshan City,Guangdong Province in the incidence of breast cancer in women.Methods The joint selectivity ductoscopy examination of the clinical breast examination screening,breast X-ray radiography examination from March 2011 to January 2013,Shunde District,FoShan City,Guangdong Provice,3 600 bladder than 40 years old woman with breast cancer screening.Results Three thousand six hundred women were found in 10 cases of breast cancer,the detection rate of 278/100 000 (10/3 600).Breast clinical examination found 1 313 cases of breast abnormalities,142 cases of breast lumps,nipple discharge line fiberoptic ductoscopy to cheek the 100 cases,X-ray radiography examination of four and more than 72 cases,accounted for a total of 45.19％ of the screening population (1 627/3 600).Conclusions Joint ductoscopy X-ray radiography examination of breast cancer screening in the normal population can help to detect early breast cancer,and to provide the basis for early clinical treatment.