Objective To report a case of Hutchinson-Gilford progeria syndrome,and to make a molecular genetic diagnosis.Methods Peripheral blood samples were collected from a 12-month-old child with HutchinsonGilford progeria syndrome,his parents,and 150 unrelated healthy controls.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing.Results The patient presented with scleroderma-like tight skin on the trunk,hair loss and prominent scalp veins for 9 months,whose body height and weight were two standard deviations below the mean.Physical examination showed thin skin and prominent superficial veins over the scalp.The skin over the trunk was tight,hard,shiny and dry with a small number of tiny scales,mottled pigmentation and hypopigmentation,induration and hypertrophy giving a cobblestone-like appearance.The subcutaneous fat was diminished on the lower limbs.Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis.A known heterozygous mutation c.1824C ＞ T (dbSNP:rs58596362) was detected in the exon 11 of the LMNA gene in the proband,but not in his parents or the 150 unrelated healthy controls.Conclusion The mutation c.1824C ＞T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.

Necrotizing enterocolitis(NEC)is a serious gastrointestinal disease in the neonatal period and one of the main causes of death in premature infants.In recent years, with the advancement of neonatal intensive care, the survival rate of children with NEC has been improved.However, the survivors are often accompanied by poor neurological prognoses, such as periventricular leukomalacia, intraventricular hemorrhage, neurodevelopmental disorders.The pathogenesis of NEC has not been fully elucidated.This review discusses the factors that may influence NEC related brain injury, such as hypoxia and ischemia, inflammatory response, nutrition, and brain-gut axis, in order to provide an overview on the pathogenesis of NEC.

The accurate deduction of postmortem interval is a difficult and extremely critical task in the field of forensic pathology and criminal investigation.In recent years,physics,chemistry,microbiology,immunology,entomology,molecular biology and other disciplines have been on the rise,and special staining,spectroscopy,mass spectrometry,chromatography,radiographic and other techniques have been developed,and methods for postmortem interval inference are increasing,among which immunolabelling techniques have played an important role.In this paper,we systematically reviewed the domestic and foreign relevant studies on the postmortem interval inference using of immunolabelling techniques,including immunohistochemistry,immunoblotting,immunofluorescence,radioimmunoassay,etc.We summarized and analyzed the research progress on these techniques in postmortem interval inference,with the aim of exploring the ideas for the study of postmortem interval inference in forensic pathology,and provide reference for better applying them in forensic practice.

Objective:To explore the clinical features of programmed cell death-1 (PD-1) inhibitor-associated hypophysitis and improve the understanding of the disease.Methods:For the present retrospective case series study, the clinical data of patients with PD-1 inhibitor-associated hypophysitis who were treated at the Affiliated Hospital of Hebei University and the 3rd Hospital of Hebei Medical University from January 2020 to May 2023 were collected for analysis of clinical manifestations and prognosis.Results:Fifteen cases of PD-1 inhibitor-induced hypophysitis were included, with 13 males and 2 females. The mean age of onset was (62.1±7.5) years, and the median time of onset was 6.5 (4.7, 11.6) cycles of PD-1 inhibitor. At diagnosis, 14 patients complained of gastrointestinal symptoms, and 12 patients complained of fatigue. There were 12, 1, 1, 5, and 1 cases of hyponatremia, hypokalemia, hypoglycemia, hypotension, and fever, respectively. Secondary adrenocortical insufficiency occurred in all cases. Moreover, four patients had secondary hypothyroidism, and two patients had secondary hypogonadism. Posterior pituitary hypofunction was not found. Pituitary MRI showed one case each of vacuolar sella turcica, pituitary cystic lesion, pituitary stalk slightly shifted to the left, high metabolism in the sella turcica, and pituitary abnormal signal, while no abnormalities were found in 11 cases. The follow-up time was (47.66±11.93) weeks. At the last follow-up, one patient′s serum levels of adrenocorticotropic hormone and cortisol returned to normal.Conclusions:Hypophysitis associated with PD-1 inhibitors occurs later, and gastrointestinal symptoms and fatigue are the most common clinical manifestations. PD-1 inhibitor-associated hypophysitis mainly manifests as adrenocortical hypofunction, and some cases manifest as hypothyroidism and hypogonadism. In addition, patients with PD-1 inhibitor-associated hypophysitis show no obvious imaging changes in the pituitary gland.

Objective:To investigate the relationship between bone mineral density (BMD) and metabolic syndrome (MS) and its components in men.Methods:The cross-sectional study method was used. The subjects were male physical examination population who were examined in the Health Examination Center of the Affiliated Hospital of Hebei University from January 2021 to December 2021. According to the MS diagnostic criteria, they were divided into MS and non MS groups. The BMD of femur was measured by dual energy X-ray bone density analyzer. The prevalence rate and bone mineral density of osteopenia, osteoporosis, metabolic syndrome in different age groups, and the differences of metabolic indicators between MS and non MS groups and the impact of MS on BMD were analyzed. Multivariate linear stepwise regression was used to analyze the risk factors of male bone mineral density.Results:6 191 subjects were included in the study. The prevalence of osteoporosis (OP) was 9.50%(588/6 191) and the prevalence of MS was 31.64%(1959/6 191) in healthy men. The prevalence of age, body mass index (BMI), fasting plasma glucose (FPG), total glyceride (TG), total cholesterol (TC), uric acid, diastolic blood pressure, systolic blood pressure and fatty liver in MS group were higher than those in non-MS group, with statistically significant difference (all P<0.05). The high density lipoprotein cholesterol (HDL-C) in MS group was lower than that in non-MS group, with statistically significant difference (all P<0.05). There were no significant difference in the prevalence of OP and BMD between the MS group and the non-MS group (all P>0.05). There was no statistically significant difference in BMD values among different MS groups, but after adjusting BMI, when the MS group score increased from 0 to 4, the BMD value decreased gradually, and the difference was statistically significant ( P<0.05). Multiple linear regression analysis showed that BMD was positively correlated with BMI and diastolic blood pressure, but negatively correlated with age, systolic blood pressure and prevalence of fatty liver disease (all P<0.05). Conclusions:With the increase of the number of MS components, BMD in men decreased gradually. BMD in men was positively correlated with BMI and diastolic blood pressure, but negatively correlated with age, systolic blood pressure and prevalence of fatty liver disease.

Total volatile organic compounds (TVOCs) are the main indoor pollutants. Long-term exposure to excessive TVOCs will cause acute and chronic adverse health effects. In order to understand current indoor TVOCs pollution in urban residential buildings in China, we searched related literature of indoor TVOCs in urban residential buildings published in CNKI, Wanfang, VIP, Web of Science, and PubMed from 2000 to 2021, and analyzed the pollution characteristics and main sources of indoor TVOCs in urban residential buildings in China. The results showed that the average TVOCs concentration range in urban residential buildings in China was 0.18-1.45 mg·m⁻³, which was widely distributed and exceeded the relevant national standard. The concentrations of TVOCs in bedrooms, study rooms, and kitchens were relatively high among different rooms. Indoor sources such as decoration materials and human activities after moving in were the main sources of TVOCs, and the concentration of TVOCs decreased the most in 4-6 months after the completion of decoration. However, extending the vacancy time after the completion of decoration is not the best method to effectively remove indoor TVOCs, especially for the areas where indoor air pollutants severely exceeding the national limit, it is necessary to control pollution sources to reduce indoor TVOCs concentration. For the study of indoor air TVOCs, future study directions could be the ratio of indoor and outdoor TVOCs concentration and the analysis of indoor human activities and other pollution sources.

Compared to conventional cancer treatment, combination therapy based on well-designed nanoscale platforms may offer an opportunity to eliminate tumors and reduce recurrence and metastasis. In this study, we prepared multifunctional microspheres loading I-labeled hollow copper sulfide nanoparticles and paclitaxel (I-HCuSNPs-MS-PTX) for imaging and therapeutics of W256/B breast tumors in rats. F-fluordeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) imaging detected that the expansion of the tumor volume was delayed (<0.05) following intra-tumoral (i.t.) injection with I-HCuSNPs-MS-PTX plus near-infrared (NIR) irradiation. The immunohistochemical analysis further confirmed the anti-tumor effect. The single photon emission computed tomography (SPECT)/photoacoustic imaging mediated by I-HCuSNPs-MS-PTX demonstrated that microspheres were mainly distributed in the tumors with a relatively low distribution in other organs. Our results revealed that I-HCuSNPs-MS-PTX offered combined photothermal, chemo- and radio-therapies, eliminating tumors at a relatively low dose, as well as allowing SPECT/CT and photoacoustic imaging monitoring of distribution of the injected agents non-invasively. The copper sulfide-loaded microspheres, I-HCuSNPs-MS-PTX, can serve as a versatile theranostic agent in an orthotopic breast cancer model.