Objective To summarize and analyze the efficacy and influencing factors of second allogeneic hematopoietic stem cell transplantation (allo-HSCT) for acute leukemia relapsing after the first allo-HSCT. Methods Clinical data of 17 patients with acute leukemia who underwent second allo-HSCT at Peking University First Hospital from January 2005 to December 2024 were retrospectively analyzed. Results Among the 17 patients, 7 achieved long-term disease-free survival after second transplantation. The median progression-free survival after successful second transplantation was 7 months (range 8 days to 69 months). The relapse fatality was 24%, and the transplant-related fatality was 35%. Conclusions Second transplantation is an effective treatment for relapsed and refractory acute leukemia, but the relapse fatality and transplant-related fatality remain high. Patient age, time of relapse after the first transplantation and disease status before second transplantation are all factors that affect the efficacy of second transplantation. Younger age, late relapse and complete remission of disease before second transplantation are all beneficial for long-term disease-free survival after second transplantation.

Diabetic cognitive impairment （DCI） has an insidious onset and progressive and irreversible development. There is currently no first-line treatment for DCI. Early intervention of diabetes with traditional Chinese medicine （TCM） can effectively control blood sugar and improve cognitive impairment， which has significant advantages. As a representative of bitter and cold heat-clearing medicines， Coptidis Rhizoma， known for its abilities to clear heat and dampness and remove turbidity and toxins， has been widely used in the clinical prevention and treatment of diabetes， Alzheimer's disease， vascular dementia， and other cognitive impairments. This article systematically summarized relevant literature and observed that Coptidis Rhizoma has shown good potential in the prevention and treatment of DCI with its active ingredients such as berberine and quercetin， drug pairs such as Coptidis Rhizoma-Scutellariae Radix， Coptidis Rhizoma-Acorus Tatarinowii Rhizoma， Coptidis Rhizoma-Pinelliae Rhizoma， Coptidis Rhizoma-Zingiberis Rhizoma， and prescriptions such as Gegen Qinliantang， Huanglian Jiedutang， Banxia Xiexintang， Huanglian Wendantang， Jiaotai Wan， Danggui liuhuangtang， and related Chinese patent medicines. Its mechanism may be related to regulating glucose metabolism， improving insulin resistance， improving amyloid β-protein （Aβ） deposition and tau protein phosphorylation， inhibiting neuroinflammation and oxidative stress， and regulating the "microbe-gut-brain axis". The article systematically reviewed the research progress of Coptidis Rhizoma and its prescriptions in the prevention and treatment of DCI， aiming to preliminarily explain the scientific connotation of Coptidis Rhizoma and provide a basis for its clinical application in the prevention and treatment of DCI.

Objective This study aims to systematically evaluate the evidence-based medicine of traditional Chinese medicine(TCM)in the treatment of dry eye,analyze its efficacy and differences compared with modern Western medicine treatments,and provide a scientific basis for clinical application.Methods By searching Chinese and English databases(including CNKI,Wanfang Data,PubMed,Cochrane Library,etc.),we included meta-analyses and systematic reviews of TCM treatments for dry eye.Literature was screened according to strict inclusion and exclusion criteria,and relevant data were extracted and integrated for analysis.The Mantel-Haenszel fixed-effects model was used to calculate the relative risk(RR)and mean difference(WMD),with the effect size expressed as a 95％confidence interval,to analyze the efficacy in-dicators of TCM treatment for dry eye.Results A total of 21 articles were finally included,involving various TCM inter-ventions for dry eye(such as Chinese herbal medicine,acupuncture,and TCM external therapies).The results showed that TCM treatment was superior to Western medicine alone in improving the overall clinical efficacy[RR=1.63,95％CI(1.46,1.81),P＜0.05],prolonging tear film break-up time[MD=2.23,95％CI(1.85,2.60),P＜0.05],and increasing tear secretion[MD=1.49,95％CI(1.04,1.94),P＜0.05].In addition,acupuncture,the combination of Chinese herbal medicine and Western medicine,and TCM external therapies all demonstrated unique advantages in improving dry eye symptoms and tear function.Conclusion TCM treatment for dry eye shows significant efficacy in key indicators such as overall clinical efficacy,tear film break-up time,and tear secretion,with a high level of safety.

Objective:To explore the genetic basis for a girl with primary microcephaly and growth retardation.Methods:A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278).Results:DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c. 2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. Conclusion:Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.

Objective:To investigate the longitudinal patterns and influencing factors of platelet counts among healthy adults in Sichuan Province from 2010 to 2021, and to inform the establishment of region-specific reference intervals for platelet counts.Methods:This study is a retrospective study. A total of 7 808 healthy adults who underwent annual physical examinations at West China Hospital, Sichuan University, between January 2010 and December 2021 were included. All participants were permanent Chengdu residents and completed consecutive complete blood count tests. Group-based trajectory modeling (GBTM) was used to identify distinct trajectories of platelet count over the ten-year period. One-way analyses were then conducted to compare baseline demographic characteristics (sex and age) among the different trajectory groups.Results:Among 7 808 participants, 4 589 (58.8%) were male and 3 219 (41.2%) were female. Four platelet count trajectories were identified by GBTM: steadily increasing group [27.4% (2 139/7 808)], early increase-plateau group [44.1% (3 445/7 808)], early decrease-subsequent increase group [5.4% (422/7 808)], and steadily decreasing group [23.1% (1 802/7 808)], with an average growth rate of 3.3%, 1.6%, 0.7%, and -0.6%, respectively. There were statistically significant differences in both sex and age distributions among the four trajectory groups. Sex-distribution differed significantly across the four trajectory groups ( χ2=73.3, P<0.001). The male proportions in the four trajectory groups were 59.6% (1 275/2 139), 62.8% (2 165/3 445), 48.1% (203/422), and 52.5% (946/1 802), respectively. The baseline ages were 45 (36, 55), 43 (35, 53), 50 (40, 60), and 47 (39, 58) years, respectively (H=121.0, P<0.001). Conclusions:Healthy adults in Sichuan Province exhibit four longitudinal trajectories of platelet counts: steadily increasing, early increase-plateau, early decrease-subsequent increase, and steadily decreasing. The two trajectories characterized by rising platelet counts (steadily increasing group and early increase-plateau group) exhibited higher male predominance and lower median ages, whereas the early decrease-subsequent increase group and the steadily decreasing group exhibited lower male proportions and higher median ages. Therefore, while establishing reference intervals and developing health management strategies for platelet counts, it is essential to account for the sex, age characteristics and the population′s dynamic changes.

OBJECTIVE: To explore the genetic basis for a girl with primary microcephaly and growth retardation. METHODS: A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278). RESULTS: DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c.2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. CONCLUSION Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.
Female ; Humans ; Cell Cycle Proteins ; Heterozygote ; Microcephaly/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree

Objective:To explore the genetic basis for a girl with primary microcephaly and growth retardation.Methods:A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278).Results:DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c. 2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. Conclusion:Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To investigate risk factors for adverse pregnancy outcomes(APO) in women with hypertriglyceridemia(HTG) during late pregnancy despite normal thyroid function, focusing on thyroid-stimulating hormone receptor(TSHR) levels.Methods:A total of 242 pregnant women with normal thyroid function who delivered in General Hospital of Central Theater Command from October 2023 to June 2024 were divided into HTG( n=111) and non-HTG groups( n=131). Clinical data, lipid profiles, thyroid function, TSHR levels, and APO were compared, and the influencing factors of APO were analyzed. Results:Compared with non-HTG group, APO, adverse maternal outcomes, and gestational diabetes mellitus(GDM) were significantly more frequent in the HTG group( P<0.05). The HTG group also had higher triglyceride(TG), fasting plasma glucose(FPG), triglyceride glucose index(TyG), triglyceride/high density lipoprotein cholesterol(TG/HDL-C), thyroid stimulating hormone(TSH) and TSHR, with lower free triiodothyronine (FT 3)( P<0.05). TSHR was an independent risk factor for APO, maternal adverse outcomes, and GDM in all pregnant women( OR=1.112, 95% CI 1.007-1.229; OR=1.126, 95% CI 1.020-1.243; OR=1.133, 95% CI 1.025-1.253) and was also an independent risk factor for APO in the HTG group( OR=1.165, 95% CI 1.005-1.351). Conclusion:Pregnant women with normal thyroid function and HTG in late pregnancy are more likely to have APO, manifested as maternal adverse outcomes and GDM. TSHR is an independent risk factor for APO.