Objective To investigate the clinical features of thyroid dysfunction in lung cancer patients treated with programmed cell death receptor-1(PD-1)or programmed cell death receptor-ligand 1(PD-L1)and their value for predicting therapeutic efficacy.Methods Lung cancer patients treated with PD-1/PD-L1 inhibitors at West China Hospital,Sichuan University between March 2018 and September 2022 were retrospectively enrolled.Data concerning the medical records,therapeutic efficacy,and thyroid function indicators of the patients were retrieved from the hospital electronic medical record information system.The data were then analyzed to identify risk factors and predictive factors for immune-related adverse events(irAEs)of the thyroid.The predictive value of thyroid irAEs for treatment efficacy and prognosis was assessed.Objective response rate(ORR)was defined as the indicator for therapeutic efficacy and progression-free survival(PFS)was defined as the prognostic indicator.Results A total of 368 lung cancer patients were enrolled.Among them,31.5％(116/368)developed thyroid irAEs.According to the results of logistic regression analysis,baseline thyroid stimulating hormone(TSH)concentration and baseline positive results for thyroglobulin antibody(TGAb)and thyroid peroxidase antibody(TPOAb)were risk factors for thyroid dysfunction caused by PD-1/PD-L1 inhibitors.Among the three measures,baseline TPOAb concentration demonstrated good predictive value for thyroid irAEs,with an area under the receiver-operating characteristic(ROC)curve(AUC)of 0.745.Patients with thyroid irAEs had a longer median PFS(16.0 months vs.9.7 months,P＜0.001)and a higher ORR(55.2％vs.34.9％,P＜0.001)compared to those without thyroid irAEs.Patients with thyroid irAEs had a better ORR than those without thyroid irAEs did.It was more likely for patients with thyroid irAEs to achieve an objective response compared to those without thyroid irAEs(odds ratio[OR]=2.29;95％CI,1.46-3.60).Conclusion In lung cancer patients treated with the PD-1/PD-L1 inhibitors,the TPOAb antibody demonstrates good predictive value for thyroid irAEs.Patients who develop thyroid irAEs have better treatment outcomes and prognosis.

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 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.

The clinical characteristics and gene variations of a family with mitochondrial myopathy and ataxia caused by MSTO1 gene mutation who visited Xiangya Hospital of Central South University in October 2019 were retrospectively analyzed.The proband was an 11-year-old female, who was found to have delayed motor and language development and dysarthria at the age of 1 year and 6 months.The 9-year-old younger brother of the proband had similar symptoms at the age of 1 year and 3 months.Both the proband and her younger brother had muscle weakness and ataxia.Their head magnetic resonance imaging showed cerebellar atrophy, and their electromyography showed neuroge-nic changes.Genetic testing revealed compound heterozygous mutations in MSTO1: c.1259delG; p.G420VfsX2 and c.571 C > T; p.R191X, which were inherited from their parents, respectively.The same site mutations were found in the younger brother.After 2 weeks of " cocktail therapy" , the symptoms of the children were alleviated, and their language and movement improved.