OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

Objective To investigate alterations in interhemispheric functional connectivity(FC)in the cerebral cortices connected via the corpus callosum in patients with Alzheimer's disease(AD),and to explore their relationships with cognitive function and activities of daily living.Methods Resting-state functional magnetic resonance imaging data were collected from 28 patients with Alzheimer's dementia(d-AD),47 patients with mild cognitive impairment(MCI),and 37 healthy controls(HC).Using a trancallosal tract template,32 pairs of homologous cortical brain regions directly connected to 32 subregions of the corpus callosum were selected as regions of interest for interhemispheric FC analysis.Further correlation analyses were performed between FC values in patient groups and their scores on the Montreal Cognitive Assessment-Basic(MoCA-B)Scale and the Activities of Daily Living(ADL)Scale.Results Compared with HC group,both MCI and d-AD groups exhibited hyperconnectivity(significantly increased FC)in interhemispheric non-homologous brain regions.Specifically,hyperconnectivity in the MCI group was scattered across the frontal,parietal,temporal,and occipital lobes,while in the d-AD group,it was concentrated within the precentral and postcentral gyri.Notably,hyperconnectivity involving the prefrontal and occipital lobes in the MCI group showed significant declines in the d-AD group.The interhemispheric homologous FC in the d-AD group reduced more significantly than the MCI group.Additionally,in the d-AD group,2 interhemispheric FC within the prefrontal lobe(between the bilateral orbital parts of the inferior frontal gyrus,and between the left medial frontal gyrus and the right middle frontal gyrus)were correlated with MoCA-B scores,and 2 FC(between the bilateral middle occipital gyri,and between the left inferior parietal lobule and the right middle frontal gyrus)were correlated with ADL scores.Conclusion MCI and d-AD exhibit distinct patterns of interhemispheric FC alterations,and the interhemispheric FC changes in AD patients are non-progressive.The close relationships between interhemispheric homologous/non-homologous FC and MoCA-B/ADL scores in d-AD patients provide an objective basis and reference for clinical neuromodulation.

This study analyzed the clinical characteristics,diagnosis,treatment,and outcomes of disseminated Tsalaromycosis marneffei(DTSM)in non-HIV-infected patients.A retrospective analysis was conducted on 20 cases of non-HIV-infected DTSM treated at Guangzhou Chest Hospital between January 2015 and December 2021.Clinical data,including demographic characteris-tics,time to diagnosis,clinical manifestations,comorbidities,treatment details,and outcomes,were collected and analyzed.Among the 20 cases,9 were in males,and 11 were in females;the median age was 46(range:1-70)years.The median time from symptom onset to definitive diagnosis was 12(range:1-24)months,and 16 cases were initially misdiagnosed with mycobacterial disease.More than half the patients exhibited four major clinical features:fever,lymphadenopathy,skin lesions,and bone lesions.Pulmonary imag-ing abnormalities were observed in 19 cases,and an average of(3.6±1.6)lung lobes were involved.The positive detection rate of multi-sample cultures(70%,14/20)was significantly higher than that identified through histopathological examination(25%,5/20)(χ2=8.120,P=0.004).Findings for all five patients with positive next-generation sequencing(NGS)results were further confirmed through pathogen culture or histopathology.After antifungal treatment,14 patients showed clinical improvement and were discharged.In conclusion,non-HIV-infected DTSM is characterized by complex clinical manifestations and extensive pulmonary involvement,thus leading to frequent misdiagnosis and diagnostic delays.Pathogen detection methods,such as multi-sample cultures and NGS,demonstrate superior diagnostic accuracy to histopathological examination.Early identification and standardized antifungal therapy are critical factors in determining patient outcomes.

The application of mechanics in clinical wound healing has a long history;however,the systematic underlying mechanisms remain unclear.With recent advancements in biomechanics and mechanobiology,the principles regarding how mechanical factors influence the formation,progression,and healing of wounds have gradually been elucidated.Herein,based on progress in theories,technologies,and clinical practices concerning the interplay between mechanics and wound healing,this study introduces the concept of wound-repairing mechanomedicine.Relevant research is systematically reviewed from the perspectives of biomechanics,mechanobiology,and mechanotherapy.Additionally,potential future development directions are prospectively analyzed to provide novel insights into wound care and strategies for preventing scar formation.

This paper reviews the current situation of massive open online course (MOOC) construction both domestically and internationally, highlighting the similarities, differences, and limitations of MOOC construction across nations. Based on the full-cycle MOOC construction of the "clinical epidemiology" course at Southern Medical University, including course design, resource integration, online deployment, and teaching evaluation, this study explored the significance, implementation path, and challenges of MOOC construction. This paper also reflects on the activation of teaching content, teacher-student interaction, and teaching mode, aiming to provide a reference for the construction and continuous enhancement of MOOC in China.

Objective:To investigate the diagnosis，therapeutic strategy and early prognosis of Scimitar syndrome in pediatric patients.Methods:Clinical data of 21 children with Scimitar syndrome admitted to the Department of Cardiothoracic Surgery of Shanghai Children's Medical Center from January 2014 to December 2021 were retrospectively analyzed，and divided into 11 cases in the infantile-type group and 10 cases in the adult-type group.Results:Twenty-one children with Scimitar syndrome，10 males and 11 females，aged 5 days to 10 years old. Compared with the adult-type group，the infant-type group had a high proportion of preoperative clinical symptoms( P<0.05)，a high concomitant rate of intracardiac malformations (100% vs. 40%， P=0.002)，a big size of aortopulmonary collateral(APC)[(0.77±0.25) mm/kg vs.(0.36±0.13) mm/kg， P=0.016]，a high incidence of pulmonary hypertension(91.0% vs. 50.0%， P=0.038), and a high proportion of severe pulmonary hypertension(50 % vs. 0). There was a high rate of postoperative complications of low cardiac output syndrome (36.4% vs. 0， P=0.034)，prolonged postoperative mechanical ventilation [(73.22±44.75) h vs. (19.5±12.79) h， P=0.007]，and prolonged length of ICU stay[(7.89±3.37) d vs. (2.50±1.26) d， P<0.001]. Eleven cases underwent surgical treatment only，and 10 cases received hybrid operation with APC occlusion. The survival rate of the whole group was 90.5%，and there was no case of pulmonary venous obstruction in the early postoperative period. Systolic pulmonary artery pressure/systolic artery pressure decreased significantly after surgery in 15 children with pulmonary arterial hypertension( P<0.01).Five cases in the infantile-type group still had pulmonary hypertension. Conclusion:Surgical effect of Scimitar syndrome in pediatric patients is satisfactory. Infants with Scimitar syndrome usually have more severe symptoms, higher incidence of severe pulmonary hypertension and relatively longer postoperative recovery time.

Neuronal intranuclear inclusion disease（NIID）is a rare hereditary neurodegenerative disorder that can affect multiple systems. However，it is uncommon for urinary dysfunction to be the initial symptom. This article reports five cases. The five patients began to experience voiding dysfunction such as frequent urination，weak urination，and incomplete urination at the mean ages of 55.4（47 - 65）years old. Four months to twelve years after urinary onset，neurological symptoms such as headache，memory decline，transient loss of consciousness，and unsteady gait began to appear. Four of the five cases had a family history. Brain MRI revealed the “ribbon sign” or “crest sign” in all cases. Skin biopsy revealed eosinophilic inclusions in the cell nuclei，and NOTCH2NLC gene testing identified abnormal GGC mutations. Three of the five patients underwent cystostomy due to secondary hydronephrosis，while the other two received no special treatment. After a follow-up of 18 to 35 months since diagnosis，the patients who underwent cystostomy had normal renal function. Neurological symptoms in all five patients worsened to varying degrees.

The application of mechanics in clinical wound healing has a long history;however,the systematic underlying mechanisms remain unclear.With recent advancements in biomechanics and mechanobiology,the principles regarding how mechanical factors influence the formation,progression,and healing of wounds have gradually been elucidated.Herein,based on progress in theories,technologies,and clinical practices concerning the interplay between mechanics and wound healing,this study introduces the concept of wound-repairing mechanomedicine.Relevant research is systematically reviewed from the perspectives of biomechanics,mechanobiology,and mechanotherapy.Additionally,potential future development directions are prospectively analyzed to provide novel insights into wound care and strategies for preventing scar formation.

AIM:This study explores whether curcumin(Cur)promotes mitophagy to attenuate nonalcoholic steatohepatitis(NASH)in mice,as well as the possible molecular mechanisms involved.METHODS:A high-fat and high-cholesterol diet was used to replicate the NASH mouse model.Thirty-two male C57BL/6J mice were randomly divided into normal control(NC)group,high-fat and high-cholesterol model(M)group,M+low-dose Cur(Cur-L)group,and M+high-dose Cur(Cur-H)group,with 8 mice in each group.The weight of 8 mice in each group was recorded weekly.After feeding for 18 weeks,the serum and liver of mice were collected.Serum levels of total cholesterol(TC),triglyceride(TG),low-density lipoprotein(LDL-C),alanine aminotransferase(ALT),aspartate aminotransferase(AST),and tumor necrosis factors-α(TNF-α)were measured.Liver index was calculated,and steatosis,inflammation,and fibrosis of the liver were observed by HE and Masson staining.Western blot analysis was performed to detect the protein expression of mi-tophagy-related protein,TNF-α and α-SMA in the liver.(2)HepG2 cells were treated with oleic acid and cholesterol to replicate the hepatocyte injury model,which was divided into NC group,Cur group,M group,and M+Cur group.Small interfering RNA for PTEN-induced kinase 1(PINK1)knockdown was used to explore the relationship between PINK1-me-diated mitophagy and NASH.Compound C(CC)was used to inhibit AMP-activated protein kinase(AMPK)to explore the effect of the AMPK/silent information regulator 1(Sirt1)pathway on mitophagy.The lipid droplets of HepG2 cells were ob-served by oil red O staining,and the levels of TC,TG,LDL-C,ALT,and AST in cell suspension were detected.RE-SULTS:(1)Compared with M group,treatment with Cur significantly reduced the body weight,liver coefficient,and se-rum levels of TC,TG,LDL-C,ALT,AST,and TNF-α in NASH mice,while the steatosis and fibrosis in the liver were improved(P<0.05).(2)Different concentrations of Cur could increase or decrease the expression of mitophagy-related proteins in HepG2 cells in a concentration gradient.Compared with the M group,Cur reduced lipid droplets and de-creased TC,TG,LDL-C,ALT,and AST levels(P<0.05).(3)Compared with the NC group,the expression levels of mi-tophagy-related proteins in the liver of mice in the M group decreased,and the expression levels of TNF-α and α-SMA pro-teins increased.Different concentrations of Cur intervention promoted the increase of mitophagy-related proteins and the decrease of TNF-α and α-SMA proteins(P<0.05).(4)After Cur intervention,the expression levels of mitophagy-related proteins increased and the expression levels of in TNF-α and α-SMA levels decreased in HepG2 cells induced by oleic acid and cholesterol(P<0.05).(5)Compared with M group,oleic-acidand cholesterol-induced mitophagy function in HepG2 cells was decreased after PINK1 knockdown(P<0.05).After CC inhibited AMPK,Cur increased the expression of p-AMPK(P<0.01),Sirt1(P<0.01),peroxisome proliferator-activated receptor γ coactivator-1α(P>0.05),PINK1(P<0.01)and parkin(P<0.01)proteins to some extent.CONCLUSION:Treatment with Cur attenuates liver injury in NASH mice and reduces lipid accumulation in HepG2 cells induced by oleic acid and cholesterol,and the mechanism may be related to promotion of mitophagy,which may involve the AMPK/Sirt1 signaling pathway.

BACKGROUND:Anybody musculoskeletal modeling system uses mathematical modeling techniques to simulate the relationship between human bones,muscles,and the environment,allowing for the study of inverse dynamics of the human body and obtaining indicators such as lower limb joint forces.OBJECTIVE:To analyze the stress distribution patterns of lower limb joints during the practice of Tai Chi movements,thereby exploring the scientific training and exercise value of Tai Chi.METHODS:Eight Tai Chi master-level athletes were selected from the Wushu College of Beijing Sport University for data collection,including seven sets of stepping movements and CT scans of the right femur.The BTS infrared capture system and Kistler three-dimensional force platform were used to collect kinematic and mechanical data of the seven sets of stepping movements in Tai Chi(Eight Methods and Five Steps).The Anybody 7.2 musculoskeletal model's multi-body dynamics simulation technology was utilized to calculate lower limb joint dynamic parameters,and Workbench 19.2 was used to perform stress analysis on the femur.RESULTS AND CONCLUSION:(1)Using Workbench software,the stress results of the femur for seven sets of movements were obtained.The peak stress values of the seven sets of movements in descending order were:Retreat and Rollback(22.00 MPa),Retreat and Pluck(19.379 MPa),Left and Right Shift Step Squeeze and Press(9.35 MPa),Left and Right Shift Step Elbow Lean(6.30 MPa),Forward Step and Expand(4.68 MPa),Forward Step and Pull(2.57 MPa),and Middle Fixed Standalone Position(0.31 MPa).(2)In the seven sets of stepping movements,the two backward stepping movements resulted in the greatest stress on the femur(P＜0.05),and the maximum stress positions on the femur were different during the movement of the seven sets of actions.(3)It is concluded that during the seven sets of stepping movements in Tai Chi(Eight Methods and Five Steps),stress threshold and maximum stress position of the femur will vary with different movements in five directions(seven sets of movements).Continuous training can comprehensively stimulate the femoral body.Forward stepping movements have a greater impact on the front and upper lateral side of the femoral body,while backward stepping movements have a greater impact on the back and inner side of the femoral body.Left and right lateral stepping movements mainly involve symmetrical stress on both sides of the femoral body.(4)Beginners should train targeted according to the stress characteristics of different stepping movements.During forward and backward stepping movements,attention should be paid to the rotational force of Tai Chi,and during left and right lateral stepping movements,attention should be paid to the medial counterforce.Beginners should focus on the Tai Chi training steps that correspond to their own weaknesses to achieve better exercise outcomes.