Intravitreal injection of anti-vascular endothelial growth factor(VEGF)agents has become the primary treatment for macular edema associated with retinal vascular disease such as diabetic retinopathy and retinal vein occlusion, but there are limitations such as variable treatment efficacy and insufficient durability of therapeutic effects. As the first bispecific antibody applied in ophthalmic treatment, Faricimab achieves favorable outcomes by simultaneously targeting both VEGF-A and angiopoietin-2(Ang-2)pathways. Based on evidence from recent clinical trials and real-world studies, this article reviews the research progress on Faricimab for the treatment of diabetic macular edema(DME), retinal vein occlusion-associated macular edema(RVO-ME)and refractory macular edema compared to the therapeutic effects of other agents. Additionally, based on Faricimab's safety characteristics and future potential, its therapeutic prospects for macular edema associated with retinal vascular diseases are discussed. This review aims to provide evidence-based references for optimizing clinical treatment strategies, thereby contributing to mitigating the risk of vision loss due to macular edema.

Traumatic cerebrospinal fluid leakage commonly presents in traumatic brain injury patients, and it may lead to complications such as meningitis, ventriculitis, brain abscess, subdural hematoma or tension pneumocephalus. When misdiagnosed or inappropriately treated, traumatic cerebrospinal fluid leakage may result in severe complications and may be life-threatening. Some traumatic cerebrospinal fluid leakage has concealed manifestations and is prone to misdiagnosis. Due to different sites and mechanisms of trauma and degree of cerebrospinal fluid leak, treatments for traumatic cerebrospinal fluid leakage varies greatly. Hence, the Craniocerebral Trauma Professional Group of Neurosurgery Branch of Chinese Medical Association and the Neurological Injury Professional Group of Trauma Branch of Chinese Medical Association organized relevant experts to formulate the " Chinese expert consensus on the diagnosis and treatment of traumatic cerebrospinal fluid leakage in adults ( version 2023)" based on existing clinical evidence and experience. The consensus consisted of 16 recommendations, covering the leakage diagnosis, localization, treatments, and intracranial infection prevention, so as to standardize the diagnosis and treatment of traumatic cerebrospinal fluid leakage and improve the overall prognosis of the patients.

Objective:To explore the transition from hospital discharge to home care in heart transplant recipients based on the Meleis' transition theory, so as to provide a basis for improving the quality of life of recipients.Methods:In July 2021, purposeful sampling was used to select heart transplant recipients from the First Affiliated Hospital of Zhejiang University School of Medicine as the research subject. A total of 12 recipients of one year after heart transplantation were selected for semi-structured interviews by snowballing. The interview data were analyzed using the Colaizzi 7-step method.Results:Through reading, analysis, sorting and summarizing, 4 themes and 11 sub-themes were extracted, namely, relatively stable recovery of physical condition, lack of medication and emotional management (unmet needs for medication cognition and management, good physical condition, early emotional experience of vulnerability) , the support of family and social resources affected the transition (the communication and support of patients promoted the transition, the support of the family promoted the transition, the lack of community resources hindered the transition, and the reimbursement policy affected the transition) , a positive experience in the transition (confidence to deal with future life, return to society and self-realization) , and expecting to obtain comprehensive and continuous management of body and mind (the needs of nursing care centered on mental health, the needs of professional management teams and the communication platform among doctors, nurses and patients) .Conclusions:The experience of home self-care after discharge has many physical and psychological impacts on heart transplant recipients. It is necessary to pay attention to the recipients in the transition period, and to build a whole-of-society support system to give help to heart transplant recipients.

OBJECTIVE: To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers. CONCLUSION The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Amidohydrolases/genetics* ; Asian Continental Ancestry Group/genetics* ; Child ; Exons ; Female ; Humans ; Metabolism, Inborn Errors/genetics* ; Mutation ; Pedigree

Objective: To investigate the features of chest CT imaging and dynamic changes of severe coronavirus disease 2019 (COVID-19). Methods: The clinical and computed tomography (CT) data of 17 patients diagnosed with severe COVID-19 admitted to Chongqing Public Health Medical Center from January 24 to February 6, 2020 were collected. The first chest CT manifestations and the dynamic changes of imaging during treatment were retrospectively analyzed. Results: The first chest CT manifestations of the 17 patients showed that 16 cases presented with peripheral and subpleural distributions, and 2 cases presented with 3 lobes involved, one case with 4 lobes involved and 14 cases with 5 lobes involved, and 17 cases presented with ground-glass opacities, ten cases with consolidation, seven cases with subpleural line, nine cases with air bronchogram, 3 cases with thickened lobular septum, two cases with bronchiectasis, two cases with pleural effusion, two cases with lymphadenopathy with the short diameter of 1.0-1.2cm. Among 16 patients who underwent repeated CT examination, the lesions of 8 patients showed continuous improvement, and those of the other 8 patients showed fluctuating changes. Conclusions The CT findings of severe COVID-19 patients are mainly ground-glass opacities and consolidation, with the peripheral distribution. The range of lesions is wide, with 5-lobe involvement mostly. Lymphadenopathy or pleural effusion is rare. Chest CT is useful for the evaluation for the therapeutic effects.

Objective:To evaluate the role of synapsin-Ⅰ phosphorylation in herkinorin-induced reduction of oxygen-glucose deprivation/restoration (OGD/R)-caused damage to cortical neurons and the relationship with conventional protein kinase C (cPKC)γ in newborn mice.Methods:Primary cortical neurons of cPKCγ + /+ and cPKCγ -/- mice (within 24 h after birth) were cultured for 7 days.Each type of neurons were then divided into 3 groups ( n=5 each) using a random number table method: control group (group C), OGD/R group and herkinorin group (group H). The neurons were subjected to oxygen-glucose deprivation (OGD) for 1 h followed by restoration of oxygen-glucose supply for 24 h. Herkinorin 10 μmol/L was added immediately after onset of OGD, the neurons were then incubated for 1 h, and herkinorin was washed out at the end of OGD in group H. At 24 h of oxygen-glucose restoration, cells were collected for measurement of the cell survival rate by methyl thiazolyl tetrazolium assay, and immunofluorescence was used to measure the number of neurites and the length of dendrites.Western blot was applied to detect the expression of phosphorylated synapsin-Ⅰ (p-synapsin-Ⅰ). Results:Compared with group C, the cell survival rate and the number of neurites were significantly decreased, the length of dendrites was shortened, and the expression of p-synapsin-Ⅰ was down-regulated in cPKCγ + /+ and cPKCγ -/- mice in group OGD/R and group H ( P<0.05). Compared with group OGD/R, the cell survival rate and the number of neurites were significantly increased, the length of dendrites was prolonged, the expression of p-synapsin-Ⅰ was up-regulated in cPKCγ + /+ mice in group H ( P<0.05), and no significant change was found in the parameters mentioned above in cPKCγ -/- mice in group H ( P>0.05). There was no significant differences in the expression of synapsin-Ⅰ in neurons among the three groups of cPKCγ + /+ mice and among the three groups of cPKCγ -/- mice ( P>0.05). Conclusion:Herkinorin can reduce OGD/R-caused damage to cortical neurons through decreasing cPKCγ membrane translocation and inhibiting synapsin-Ⅰ phosphorylation in newborn mice.

Objective:To investigate the features of chest computed tomography (CT) imaging and dynamic changes of severe corona virus disease 2019 (COVID-19).Methods:The clinical and CT data of 17 patients diagnosed with severe COVID-19 admitted to Chongqing Public Health Medical Center from January 24 to February 6, 2020 were collected. The first chest CT manifestations and the dynamic changes of imaging during treatment were retrospectively analyzed.Results:The first chest CT manifestations of the 17 patients showed that 16 cases presented with peripheral and subpleural distributions, and two cases presented with three lobes involved, one case with four lobes involved and 14 cases with five lobes involved, and 17 cases presented with ground-glass opacities, ten cases with consolidation, seven cases with subpleural line, nine cases with air bronchogram, three cases with thickened lobular septum, two cases with bronchiectasis, two cases with pleural effusion, three cases with lymphadenopathy with the short diameter of 1.0-1.2 cm.Among 16 patients who underwent repeated CT examination, the lesions of eight patients showed continuous improvement, and those of the other eight patients showed fluctuating changes.Conclusions:The CT findings of severe COVID-19 patients are mainly ground-glass opacities and consolidation, with the peripheral distribution. The range of lesions is wide, with five-lobe involvement mostly. Lymphadenopathy or pleural effusion is rare. Pynamic monitoring chest CT is useful for the evaluation for the therapeutic effects.

OBJECTIVE: To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software. RESULTS: Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging. CONCLUSION The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.
Abnormalities, Multiple ; genetics ; Amidohydrolases ; deficiency ; genetics ; Asian Continental Ancestry Group ; Brain Diseases ; genetics ; China ; Exons ; Humans ; Infant ; Introns ; Movement Disorders ; genetics ; Mutation ; Pedigree ; Purine-Pyrimidine Metabolism, Inborn Errors ; genetics

OBJECTIVETo detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.

METHODSGenomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.

RESULTSThe proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.

CONCLUSIONThe novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.

Amino Acid Metabolism, Inborn Errors ; ethnology ; genetics ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; methods ; Developmental Disabilities ; ethnology ; genetics ; Exons ; genetics ; Family Health ; Female ; Heterozygote ; Humans ; Infant ; Introns ; genetics ; Male ; Mutation ; Sequence Homology, Amino Acid ; Succinate-Semialdehyde Dehydrogenase ; deficiency ; genetics

Objective To investigate the current situation in Chinese rheumatologic physicians' clinical diagnosis and evaluation of Takayasu's arteritis (TA).Methods Nineteen rheumatology experts and three vascular surgery specialists in China were invited to make the nationwide investigation for the first time about the diagnosis and disease activity evaluation of TA in China,through the questionnaire survey on the internet.Weighted average was used to calculate the average scores of corresponding problems.Results Chinese experts mainly adopted 1990 American College of Rheumatology (ACR) classification criteria for clinical diagnosis of TA.In details,symptoms of age,limb claudication and amaurosis,signs including pulselessness or pulse weakening,vascular bruits,increasing bilateral pulse pressure and hypertension and acute phase reactants (APR) were critical to the clinical diagnosis of TA.Besides,noninvasive imaging examinations,such as computed tomography angiography (CTA),magnetic resonance angiography (MRA),vascular ultrasonography,and positron emission tomography (PET) were also of great importance.In the aspect of disease activity assessment,Chinese experts mainly used Kerr scoring tool.APR and noninvasive radiological examinations were considered with vital value.Some TA patients with carotid artery involvement were recommended using vascular ultrasonography,while others with pulmonary artery and thoracic/abdominal aorta trunk involvement were preferred CTA other than MRA.Conclusions APR and noninvasive imaging examinations were thought with great help to make clinical diagnosis and evaluation of TA for Chinese physicians.