Objective To explore the clinical and genetic characteristics of congenital generalized lipodystrophy (CGL). Method The clinical data of one child with CGL caused by BSCL2 gene mutation were analyzed retrospectively and relative literature were reviewed. Results A 2-year-9-month old girl had clinical manifestations of a lack of subcutaneous fat, acanthosis nigricans, hepatolienomegaly and mild hypophrenia. Laboratory examinations showed hypertriglyceridemia, hyperinsulinemia and cardiomyopathy. The peripheral blood from the child and her parents were collected and 4 genes, AGPAT2, BSCL2, CAV1 and PTRF, were sequenced by Sanger. The results showed a heterozygous mutation of BSCL2 gene from maternal frameshift (c.567-568delGA, p.E189EfsX12) and paternal nonsense mutation (c.565G>T,p.E189X) respectively in the child, and both mutations were pathogenic ones. By a literature review, it is known that BSCL2 gene mutation is the most common cause of in Asian. In CGL with BSCL2 gene mutation, the commom clinical manifestations include disappearance of systemic adipose tissue, acathosis nigricans and hepatomegaly, and the incidence of myocardial infarction and mental retardation were 40% and 30% respectively. Conclusion The main clinical manifestations of CGL caused by BSCL2 gene mutation were loss of systemic adipose tissue and metabolic disorder at an early age. It was often accompanied by myocardial lesions and mental retardation. Gene diagnosis analysis should be made as earliest possible time for the children suspected of this disease.

A highly sensitive and selective method was developed for both UV-vis spectrophotometric and fluo-rimetric determination of organophosphorus pesticides(OPs).This method used silver nanoparticles(AgNPs)modified with graphitic carbon nitride(g-C3N4).The AgNPs reduced the fluorescence intensity of g-C3N4.Acetylthiocholine(ATCh)could be catalytically hydrolyzed by acetylcholinesterase(AChE)to form thiocholine,which induces aggregation of the AgNPs.This aggregation led to the recovery of the blue fluorescence of g-C3N4,with excitation/emission peaks at 310/460 nm.This fluorescence intensity could be reduced again in the presence of OPs because of the inhibitory effect of OPs on the activity of AChE.The degree of reduction was found to be proportional to the concentration of OPs,and the limit of fluorometric detection was 0.0324 μg/L(S/N = 3).In addition,the absorption of the g-C3N4/AgNPs at 390 nm decreased because of the aggregation of the AgNPs,but was recovered in presence of OPs because of the inhibition of enzyme activity by OPs.This method was successfully applied to the analysis of parathion-methyl in real samples.

Objective To examine the current state of care services for geriatric osteoporotic fractures in Chinese hospitals and to provide a basis for the improvement of these services and the formulation of related policies.Methods In September to November 2023,a stratified convenience sampling method was used to investigate the implementation of care services for elderly patients with osteoporotic fractures in 621 hospitals across 31 provinces(autonomous regions and municipalities)in China.A self-designed questionnaire was utilized for this purpose.Results A total of 621 hospitals participated in the survey,with 432(69.57%)tertiary hospitals and 189(30.43%)secondary hospitals.Over 95%of hospitals provided health education on diet,medication,fall prevention,and early functional exercise for elderly fracture patients.Less than 80%of hospitals provide specialized training on osteoporosis treatment and secondary fracture prevention for medical staff.Only 263 hospitals(42.35%)routinely conduct bone density tests for patients over 50 years old with fractures,while 221 hospitals(35.59%)routinely conduct bone metabolic biochemical tests for such patients.Less than 50%of hospitals provide specialized services,such as geriatric osteoporotic fracture clinics,for elderly patients with osteoporotic fractures.Additionally,39.77%of hospital departments have not developed postoperative care plans for elderly patients with osteoporotic fractures.The lack of specialized care teams(91.63%),insufficient investment in care resources(88.08%),and the absence of policy support(77.45%)are identified as the primary factors impeding the provision of care services for elderly patients with osteoporotic fractures in hospitals.Although some care services in tertiary hospitals are superior to those in secondary hospitals(P<0.05),they are still far from adequate.Conclusion The development of care services for elderly patients with osteoporotic fractures in Chinese hospitals needs improvement.It is recommended to further standardize and enhance the content and methods of health education,intensify clinical assessments related to osteoporosis in elderly fracture patients,improve the professional care capabilities of medical staff,and at the same time,the state should introduce relevant policies to support and promote the construction and development of hospital care services for elderly osteoporotic fracture patients.

Objective To construct a carbon dioxide(CO2)laser-induced corneal injury model in mice and observe the process of corneal wound healing.Methods Twenty eyes of ten C57BL/6J mice were divided into 4 groups.The cen-tral corneas in each group were irradiated by CO2 laser with a wavelength of 10.6 μm,spot diameter of 2 mm and power of 0.94 W.The exposure doses were 3.0 J·cm-2,4.5 J·cm-2,7.5 J·cm-2 and 10.5 J·cm-2,with corresponding expo-sure durations of 0.10 s,0.15 s,0.25 s and 0.35 s.Corneal injury severity was assessed using a slit lamp microscope,opti-cal coherence tomography and histopathological evaluation at 1 day after the exposure to determine the proper exposure dose for constructing a corneal injury model.Subsequently,the corneal injury model was constructed and the same meth-ods were used to monitor wound healing before,and 0 hours to 6 months after the exposure.Results No obvious corne-al injury was observed at an exposure dose of 3.0 J·cm-2.At an exposure dose of 4.5 J·cm-2,an off-white injury area appeared on the central cornea with loss of epithelium and endothelium.At an exposure dose of 7.5 J·cm-2 or 10.5 J·cm-2,the injury area became porcelain white,the cornea was thickened,and the iris was seen adhering to the margin of the cornea.Therefore,4.5 J·cm-2 CO2 laser was selected to construct a corneal injury model.At this exposure dose,the cornea swelled and thickened rapidly after injury,reached the maximum thickness 1 day after the exposure,and then grad-ually recovered,returning to normal by 14 days after the exposure.In the early stage(0 hours to 3 days after the expo-sure),the cornea showed shedding of injured epithelium and endothelium,migration of new epithelium and endothelium,and infiltration and regression of inflammatory cells.At the late stage(7 days to 6 months after the exposure),the cornea gradually returned to a normal physiological state,but some of the injured cornea exhibited stromal hyperplasia.Conclu-sion A CO2 laser with an exposure dose of 4.5 J·cm-2 can be used to construct a corneal injury model in mice.The a-cute phase of corneal injury primarily occurs within 3 days after the exposure.The cornea tends to restore its original physi-ological structure,but the corneal transparency cannot return to a normal state.