Based on advancements in modern medical research regarding the intricate connection between the endocrine and exocrine functions of the pancreas， as well as the relationship between pancreatic functions and traditional Chinese medicine （TCM） spleen system， this paper discussed the categorization of the pancreas. It is proposed that the pancreas is neither a true zang organ nor a fu organ， but possessed the attributes of an extraordinary fu-organ and can be classified under the spleen. The spleen governs transportation and transformation， ascent of the clear and dispersion of essence， which encompasses the endocrine and exocrine functions， and pancreatic enzymes and glucose-regulating hormones form the material basis for the spleen's function of dispersing essence. Diseases of the pancreas exhibit characteristics of both zang-organ deficiency and fu-organ excess， so treatment should simultaneously supplement zang-organ disease and regulate fu-organ disease when pancreas showing endocrine and exocrine co-morbidities， with focus on restoring the pancreas （spleen）'s dispersing essence function. Therapeutic strategies include supplementing spleen qi， nourishing spleen yin to strengthen spleen earth， unblocking spleen collaterals， raising spleen yang， and removing spleen turbidity to support the spleen's dispersing essence function， so as to replenish the essential qi of zang-fu organs， ensure their distribution throughout the body， and improve the endocrine and exocrine functions of the pancreas.

Childhood primary renal tubular diseases are chronic kidney diseases characterized by impaired renal tubular reabsorption. Primary renal tubular disease has diverse clinical manifestations and lacks of specificity. Laboratory tests are limited，making it prone to missed diagnosis and misdiagnosis. Based on the current knowledge of renal tubular diseases，authors propose early warning signals of renal tubular diseases such as family history of primary tubular diseases，unexplained polyhydramnios during pregnancy，polydipsia，polyuria，delayed growth and development or rickets，decreased muscle strength and tone，unexplained electrolyte disturbance，hyperuricemia，acid-base disturbance，positive urine sugar test，renal tubular proteinuria，urinary imaging examination suggesting kidney stones，calcium deposition，renal cysts and early onset of eye，ear，joint and neuron injury.Meanwhile，some universal management strategies for primary renal tubular disease are proposed，emphasizing the importance of multidisciplinary collaboration，genetic testing and individualized intervention to improve the long-term prognosis of childhood primary renal tubular diseases.

Objective The aim of this study is to investigate the plaque characteristics of different subtypes of middle cerebral artery(MCA)infarction,lenticulostriate artery(LSA)characteristics,and hemodynamic characteristics through high-resolution magnetic resonance vessel wall imaging(HR-MRI VWI)and perfusion weighted imaging(PWI).Methods A retrospective analysis was conducted on patients with unilateral acute or subacute MCA infarction who underwent HR-MRI VWI and PWI examinations at Qinhuangdao First Hospital from January 2022 to April 2024.Patients were divided into three groups according to the type of infarction:artery-to-artery embolism(AA),branch occlusive disease(BOD),branch occlusive disease and artery-to-artery embolism(BOD-AA).Clinical data,plaque characteristics,lenticulostriate artery characteristics,and hemodynamic characteristics were compared and analyzed among the three groups.To determine factors associated with BOD,the BOD and BOD-AA groups were merged into a BOD+group which was then compared with the AA group.To determine factors associated with the AA group,the BOD-AA and AA groups were combined into an AA+group,followed by comparison with the BOD group.Results A total of 42 patients with unilateral acute or subacute MCA infarction were included according to the inclusion and exclusion criteria.Among them,9 patients were classified as having AA,14 patients as having BOD,and 19 as having BOD-AA.The results showed that the degree of stenosis was higher in the AA+group than in the BOD group,and the difference was statistically significant(Z=-2.536,P<0.05);The number of LSA on the affected side was higher in the BOD+group than in the AA group[2.00(1.50,3.00)vs.3.00(3.00,4.00)],and the difference was statistically significant(Z=-2.889,P<0.05);The relative cerebral blood flow(rCBF)of the centrum semiovale was lower in the AA+group than in the BOD group[0.90(0.84,0.93)vs.0.99(0.97,1.03)],and the difference was statistically significant(Z=-4.555,P<0.05);The rCBF in the basal ganglia was lower in the BOD+group than in the AA group[0.89(0.83,0.93)vs.1.01(0.98,1.04)],and the difference was statistically significant(Z=-4.280,P<0.05).Conclusion Patients in BOD+have a lower degree of stenosis compared to AA group.The spatial relationship between plaques and LSA varies across different subtypes of MCA infarction.Plaques in BOD+patients are positioned closer to the LSA orifice and thus have a higher tendency to occlude the LSA orifice.The affected side has few LSAs and the rCBF in the LSA perfusion area.is lower.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective The aim of this study is to investigate the plaque characteristics of different subtypes of middle cerebral artery(MCA)infarction,lenticulostriate artery(LSA)characteristics,and hemodynamic characteristics through high-resolution magnetic resonance vessel wall imaging(HR-MRI VWI)and perfusion weighted imaging(PWI).Methods A retrospective analysis was conducted on patients with unilateral acute or subacute MCA infarction who underwent HR-MRI VWI and PWI examinations at Qinhuangdao First Hospital from January 2022 to April 2024.Patients were divided into three groups according to the type of infarction:artery-to-artery embolism(AA),branch occlusive disease(BOD),branch occlusive disease and artery-to-artery embolism(BOD-AA).Clinical data,plaque characteristics,lenticulostriate artery characteristics,and hemodynamic characteristics were compared and analyzed among the three groups.To determine factors associated with BOD,the BOD and BOD-AA groups were merged into a BOD+group which was then compared with the AA group.To determine factors associated with the AA group,the BOD-AA and AA groups were combined into an AA+group,followed by comparison with the BOD group.Results A total of 42 patients with unilateral acute or subacute MCA infarction were included according to the inclusion and exclusion criteria.Among them,9 patients were classified as having AA,14 patients as having BOD,and 19 as having BOD-AA.The results showed that the degree of stenosis was higher in the AA+group than in the BOD group,and the difference was statistically significant(Z=-2.536,P<0.05);The number of LSA on the affected side was higher in the BOD+group than in the AA group[2.00(1.50,3.00)vs.3.00(3.00,4.00)],and the difference was statistically significant(Z=-2.889,P<0.05);The relative cerebral blood flow(rCBF)of the centrum semiovale was lower in the AA+group than in the BOD group[0.90(0.84,0.93)vs.0.99(0.97,1.03)],and the difference was statistically significant(Z=-4.555,P<0.05);The rCBF in the basal ganglia was lower in the BOD+group than in the AA group[0.89(0.83,0.93)vs.1.01(0.98,1.04)],and the difference was statistically significant(Z=-4.280,P<0.05).Conclusion Patients in BOD+have a lower degree of stenosis compared to AA group.The spatial relationship between plaques and LSA varies across different subtypes of MCA infarction.Plaques in BOD+patients are positioned closer to the LSA orifice and thus have a higher tendency to occlude the LSA orifice.The affected side has few LSAs and the rCBF in the LSA perfusion area.is lower.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To investigate the brain activity and related hypoxic indicators in early cognitive processing stage (200-600 ms) and late cognitive processing stage (600-1 000 ms) by comparing their cognitive processing in pilots performed classical Stroop task under hypoxic state.Methods:Fifteen male Air Force pilots who were qualified in aeromedical assessment were selected. The behavioral indicators (accuracy, response time), event related potentials (ERP) component metrics (N2), and spectral metrics (Alpha band, Beta band) were monitored and analyzed when the pilots complete the cognitive conflict control task in the simulated 5 000 m hypoxic state and normal state.Results:The main effect of relationship type factors in response time indicators was significant ( F=4.10, P=0.027), and no difference found in accuracy indicators (all P>0.05). The reaction time under conflict conditions was (543.360±21.202) ms, which was higher than the reaction time under consistent conditions (509.078±14.420) ms, and the difference was significant ( F=3.28, P=0.039). The reaction time under unrelated conditions was (521.697±15.073) ms, and there was no significant difference between the reaction time under consistent and conflicting conditions (all P>0.05). Hypoxic status resulted in a significant increases in early stage indicator N2 amplitude ( F=5.34, P=0.037), and the power of Alpha, Low beta and Mid beta of late stage ( F=7.76, 5.34, 4.92, P=0.015, 0.037, 0.044). Conclusions:The amplitude of N2 can be used as the ERP indicator to investigate the pilots′ brain activities at the early stage of cognitive processing under hypoxia state; Alpha, Low beta and Mid beta bands of the spectrum can be used as the indicators to evaluate the brain activity of pilots in the late stage of cognitive processing under hypoxia state, which can be used in the training evaluation of pilots to provide more objective physiological data to improve the training effect of pilots.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Abstract Mental health education of adolescents has received lots attention,while complex systems in sport are of great significance for promoting mental health of primary and middle school students. By comprehensively analyzing relevant findings, the paper discusses the effects of complex systems in sport on mental health problems of primary and middle school students,especially depression,anxiety,sleep,cognition,and social ability,and explores possible strategies associated with complex systems in sport to promote mental health of primary and middle school students,aiming provide data for effective sports health education among school teachers.

The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.