Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare case caused by a mutation in the colony-stimu-lating factor 1 receptor ( CSF1R) gene on chromosome 5. In this paper, we report a case of a young female patient with HDLS, mainly characterized by memory loss, cognitive impairment, delayed movement, and abnormal mental and behavioral states. Genetic testing revealed a missense mutation in the CSF1R gene.

This report described a case of neonatal alloimmune thrombocytopenic purpura presenting with generalized petechiae. The infant was admitted at Nanfang Hospital, Southern Medical University on March 30, 2022, following detection of wide spread petechiae 30 minutes post-delivery. Blood tests revealed severe thrombocytopenia (platelet count 5×10 9/L) with leukopenia, decreased hemoglobin, and hepatomegaly, though coagulation function remained normal. Initial treatments—random donor platelet transfusion, and intravenous immunoglobulin—proved ineffective. Pretreatment blood samples showed strongly positive platelet antibodies (3+). Further typing confirmed human leukocyte antigen (HLA) antibodies in both infant and mother, establishing HLA-negative neonatal alloimmune thrombocytopenia. HLA-negative platelet transfusion resolved petechiae and normalized platelet counts, enabling discharge on postnatal day 14. Subdural hemorrhage was detected on MRI at day 29. Platelet levels remained normal at six-month follow-up, with age-appropriate development confirmed at 2.5 years.

OBJECTIVE To establish the fingerprint of Gerbera delavayi and the methods for the content determination of 11 components in G. delavayi. METHODS High-performance liquid chromatography（HPLC）was adopted to establish the fingerprints of 13 batches of G. delavayi（No. S1-S13）， and the similarities were evaluated according to Similarity Evaluation System of Chromatographic Fingerprint of TCM （2012 edition）， while the common peaks were identified. Hierarchical clustering analysis （HCA）， principal component analysis （PCA） and orthogonal partial least square-discriminant analysis （OPLS-DA） were carried out by using SPSS 25.0 software and SIMCA 14.1 software. The contents of neochlorogenic acid， chlorogenic acid， cryptochlorogenic acid， 3，8-dihydroxy-4-methoxy-2-oxo-2H-1-benzopyran-5-carboxylic acid， caffeic acid， 3-hydroxy-4-methoxy-2- oxo-2H-1-benzopyran- 5-carboxylic acid， luteolin-7-O-β-D-glucoside， isochlorogenic acid A， apigenin-7-O-β-D-glucoside， isochlorogenic acid C and xanthotoxin were determined by HPLC. RESULTS The similarities in HPLC fingerprint of 13 batches of G. delavayi were 0.801-0.994； a total of 38 common peaks were identified and 13 common peaks were identified. The results of HCA showed that S1-S5 and S7 were clustered into one group， S6 into one category， S8 into one category， S9 and S11 into one category， S10， S12 and S13 into one category， and the results of PCA were consistent with them. The results of OPLS-DA showed that variable importance values for the projection of peak 7 （chlorogenic acid）， peak 21 （isochlorogenic acid A）， peak 26 （xanthotoxin）， peak 19 （isochlorogenic acid B）， peak 33， peak 13， peak 23 （isochlorogenic acid C）， peak 2 （new chlorogenic acid）， peak 17 （luteolin-7-O-β-D- glucoside） were greater than 1. The above 11 components had good linearity in their respective detection concentration ranges （r was greater than 0.999）. RSDs of precision， repeatability， and stability tests were not more than 2% （n＝6）. The average recovery rates were 92.54%-105.55%， and the RSDs were 0.83%-1.93% （n＝6）. The average contents of 11 components were 0.744， 5.014， 0.646， 0.431， 0.069， 0.582， 0.979， 2.754， 0.157， 1.284 and 2.943 mg/g， respectively. CONCLUSIONS The constructed HPLC fingerprint and content determination methods are simple， accurate and stable， which can provide reference for quality control of G. delavayi. Xanthotoxin， chlorogenic acid， isochlorogenic acid A， luteolin-7-O- β -D-glucoside， isochlorogenic acid C and new chlorogenic acid can be used as markers for G. delavayi.

Objective To analyze the clinical characteristics of immune checkpoint inhibitor(ICI)-related hepatotoxicity(ICIH)in cancer patients.Methods A retrospective analysis was conducted on clinical data of cancer patients with ICIH from January 2019 to December 2024.Patients with Grade 1-2 liver injury were defined as the mild group,and those with Grade 3-4 liver injury were defined as the severe group.Results Among 13 patients with ICIH,10(76.92%)were males and 3(23.08%)were females,with a mean age of 67.8±5.2 years.Twelve patients(92.3%)were aged 60 years or above.ICIH first occurred between cycle 1 and cycle 14 after initial treatment,with the highest incidence observed within cycles 1-5.Combination therapy(combination chemotherapy or targeted agents)was used in 10 patients(76.92%).Among the 13 patients,the distribution of liver injury grades was as follows:1 case of Grade 1(7.69%),2 cases of Grade 2(15.38%),5 cases of Grade 3(38.46%),and 5 cases of Grade 4(38.46%).Liver injury types included hepatocellular(38.46%),cholestatic(38.46%),and mixed(23.08%).After drug discontinuation and supportive care,9 patients(69.23%)fully recovered,2(15.38%)improved,and 2(15.38%)showed no improvement.No significant differences were observed between the mild and severe groups in terms of age,body mass index,baseline lymphocyte count,platelet count,neutrophil count,monocyte count,alanine aminotransferase,aspartate aminotransferase,lactate dehydrogenase,alkaline phosphatase,lymphocyte-to-monocyte ratio,neutrophil-to-lymphocyte ratio,and platelet-to-lymphocyte ratio(P>0.05).Conclusion ICIH typically occurs within 1 to 5 cycles after ICI administration,with non-specific clinical manifestations,which lead to a diagnosis of exclusion.Despite a generally favorable prognosis,severe ICIH can be fatal,particularly in patients with primary liver cancer.Prompt discontinuation of ICIs and initiation of Corticosteroid therapy can lead to timely improvement of patient's condition.

Objective To analyze the clinical characteristics of immune checkpoint inhibitor(ICI)-related hepatotoxicity(ICIH)in cancer patients.Methods A retrospective analysis was conducted on clinical data of cancer patients with ICIH from January 2019 to December 2024.Patients with Grade 1-2 liver injury were defined as the mild group,and those with Grade 3-4 liver injury were defined as the severe group.Results Among 13 patients with ICIH,10(76.92%)were males and 3(23.08%)were females,with a mean age of 67.8±5.2 years.Twelve patients(92.3%)were aged 60 years or above.ICIH first occurred between cycle 1 and cycle 14 after initial treatment,with the highest incidence observed within cycles 1-5.Combination therapy(combination chemotherapy or targeted agents)was used in 10 patients(76.92%).Among the 13 patients,the distribution of liver injury grades was as follows:1 case of Grade 1(7.69%),2 cases of Grade 2(15.38%),5 cases of Grade 3(38.46%),and 5 cases of Grade 4(38.46%).Liver injury types included hepatocellular(38.46%),cholestatic(38.46%),and mixed(23.08%).After drug discontinuation and supportive care,9 patients(69.23%)fully recovered,2(15.38%)improved,and 2(15.38%)showed no improvement.No significant differences were observed between the mild and severe groups in terms of age,body mass index,baseline lymphocyte count,platelet count,neutrophil count,monocyte count,alanine aminotransferase,aspartate aminotransferase,lactate dehydrogenase,alkaline phosphatase,lymphocyte-to-monocyte ratio,neutrophil-to-lymphocyte ratio,and platelet-to-lymphocyte ratio(P>0.05).Conclusion ICIH typically occurs within 1 to 5 cycles after ICI administration,with non-specific clinical manifestations,which lead to a diagnosis of exclusion.Despite a generally favorable prognosis,severe ICIH can be fatal,particularly in patients with primary liver cancer.Prompt discontinuation of ICIs and initiation of Corticosteroid therapy can lead to timely improvement of patient's condition.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare case caused by a mutation in the colony-stimu-lating factor 1 receptor ( CSF1R) gene on chromosome 5. In this paper, we report a case of a young female patient with HDLS, mainly characterized by memory loss, cognitive impairment, delayed movement, and abnormal mental and behavioral states. Genetic testing revealed a missense mutation in the CSF1R gene.

This report described a case of neonatal alloimmune thrombocytopenic purpura presenting with generalized petechiae. The infant was admitted at Nanfang Hospital, Southern Medical University on March 30, 2022, following detection of wide spread petechiae 30 minutes post-delivery. Blood tests revealed severe thrombocytopenia (platelet count 5×10 9/L) with leukopenia, decreased hemoglobin, and hepatomegaly, though coagulation function remained normal. Initial treatments—random donor platelet transfusion, and intravenous immunoglobulin—proved ineffective. Pretreatment blood samples showed strongly positive platelet antibodies (3+). Further typing confirmed human leukocyte antigen (HLA) antibodies in both infant and mother, establishing HLA-negative neonatal alloimmune thrombocytopenia. HLA-negative platelet transfusion resolved petechiae and normalized platelet counts, enabling discharge on postnatal day 14. Subdural hemorrhage was detected on MRI at day 29. Platelet levels remained normal at six-month follow-up, with age-appropriate development confirmed at 2.5 years.

ObjectiveTo explore the impact of autonomic nerve function on motor function in patients with post-stroke depression (PSD) from the perspective of regional homogeneity (ReHo). MethodsFrom January to December, 2020, a total of 60 inpatients and outpatients with cerebral infarction in the Affiliated Brain Hospital of Nanjing Medical University were divided into control group (n = 30) and PSD group (n = 30). Two groups were assessed using Fugl-Meyer Assessment (FMA), modified Barthel Index (MBI) and Hamilton Depression Scale (HAMD). Heart rate variability (HRV) was measured. Ten patients in each group were selected randomly to undergo resting state functional magnetic resonance imaging (rs-fMRI) to calculate ReHo. ResultsAll HRV indices were lower in PSD group than in the control group (|t| > 2.092, P < 0.05). In PSD group, FMA and MBI scores showed positive correlations with 24-hour standard deviation of normal-to-normal R-R intervals (SDNN), the root mean square of successive differences between normal heartbeats over 24 hours (RMSSD), the percentage of differences between adjacent normal R-R intervals over 24 hours that were greater than 50 ms (PNN50), total power (TP), very low frequency power (VLF) and low frequency power (LF) (r > 0.394, P < 0.05), and showed negative correlations with HAMD scores (|r| > 0.919, P < 0.001). HAMD scores in PSD group were negatively correlated with SDNN, RMSSD, PNN50, TP and VLF (|r| > 0.769, P < 0.001). Compared with the control group, the ReHo increased in PSD group in the right rectus gyrus (142 voxels, t = 6.575), the left medial and paracingulate gyri (204 voxels, t = 4.925) (GRF correction, P_-Voxel < 0.005，P_-Cluster < 0.05); and reduced in the right cerebellum (191 voxels, t = -6.487), the left middle temporal gyrus (140 voxels, t = -5.516), and the left precentral gyrus (119 voxels, t = -4.764) (GRF correction, P_-Voxel < 0.005，P_-Cluster < 0.05) in PSD group. ConclusionAutonomic nerve function is related to motor dysfunction in patients with PSD. The modulation of emotional, cognitive and motor brain regions by the autonomic nervous system may play a role in influencing the motor function in patients with PSD.

Objective:To investigate the association between exposures of seven classic phthalate metabolites and fertility among preconception women before pregnancy.Methods:Based on the preconception cohort, a nested case-control study was carried out. Preconception couples who were recruited from Shanghai Jiading District Maternal and Child Health Hospital from 2016 to 2020 with intention to conception were selected. A total of 100 women whose time to pregnancy (TTP) >12 months were selected as the case group, and 151 women with the TTP≤12 months were randomly selected as control group. The single and joint effects on fertility of phthalate metabolites were analyzed by the comparison between the two groups via the multivariate binary logistic regression model, and the weighted quantile sum regression model.Results:There were significant differences in mono-(2-ethylhexyl) phthalate (MEHP), mono-(2-carboxmethyl)-hexyl phthalate (MCMHP), the sum of the detected concentrations of MEHP, MCMHP, mono-(2-ethyl-5-oxohexyl) phthalate, mono-(2-ethyl-5-hydroxyhexyl) phthalate and mono-(2-ethyl-5-carboxypentyl) phthalate (∑DEHP), and the sum of the detected concentrations of the seven phthalate metabolites (∑PAE) exposure levels between the case group and control group ( P=0.005, P<0.001, P=0.001, P=0.007). As shown by the multivariate binary logistic regression model, women with MEHP, MCMHP, ∑DEHP, ∑PAE at the highest quartile level were found to have significantly increased risk of infertility compared with women at the lowest quartile level (a OR=2.40, 95% CI: 1.12-5.15, P=0.025; a OR=7.74, 95% CI: 3.14-19.08, P<0.001; a OR=4.35, 95% CI: 1.93-9.79, P<0.001; a OR=2.04, 95% CI: 0.96-4.34, P=0.044). The weighted quantile sum regression model demonstrated that the exposure to seven phthalate metabolite mixtures in preconception was associated with an increased risk of infertility ( P<0.05). Among the seven phthalate metabolites, MCMHP had the largest contribution weight (61.7%). Conclusion:Women of childbearing age should avoid the exposure to phthalates in the environment when preparing for conception, such as to reduce the consumption of highly processed foods and foods packaged with plastic/polyvinyl chloride materials to promote fertility.

Objective:To investigate the association between exposures of seven classic phthalate metabolites and fertility among preconception women before pregnancy.Methods:Based on the preconception cohort, a nested case-control study was carried out. Preconception couples who were recruited from Shanghai Jiading District Maternal and Child Health Hospital from 2016 to 2020 with intention to conception were selected. A total of 100 women whose time to pregnancy (TTP) >12 months were selected as the case group, and 151 women with the TTP≤12 months were randomly selected as control group. The single and joint effects on fertility of phthalate metabolites were analyzed by the comparison between the two groups via the multivariate binary logistic regression model, and the weighted quantile sum regression model.Results:There were significant differences in mono-(2-ethylhexyl) phthalate (MEHP), mono-(2-carboxmethyl)-hexyl phthalate (MCMHP), the sum of the detected concentrations of MEHP, MCMHP, mono-(2-ethyl-5-oxohexyl) phthalate, mono-(2-ethyl-5-hydroxyhexyl) phthalate and mono-(2-ethyl-5-carboxypentyl) phthalate (∑DEHP), and the sum of the detected concentrations of the seven phthalate metabolites (∑PAE) exposure levels between the case group and control group ( P=0.005, P<0.001, P=0.001, P=0.007). As shown by the multivariate binary logistic regression model, women with MEHP, MCMHP, ∑DEHP, ∑PAE at the highest quartile level were found to have significantly increased risk of infertility compared with women at the lowest quartile level (a OR=2.40, 95% CI: 1.12-5.15, P=0.025; a OR=7.74, 95% CI: 3.14-19.08, P<0.001; a OR=4.35, 95% CI: 1.93-9.79, P<0.001; a OR=2.04, 95% CI: 0.96-4.34, P=0.044). The weighted quantile sum regression model demonstrated that the exposure to seven phthalate metabolite mixtures in preconception was associated with an increased risk of infertility ( P<0.05). Among the seven phthalate metabolites, MCMHP had the largest contribution weight (61.7%). Conclusion:Women of childbearing age should avoid the exposure to phthalates in the environment when preparing for conception, such as to reduce the consumption of highly processed foods and foods packaged with plastic/polyvinyl chloride materials to promote fertility.