Recent Advances for Global Perspectives on Etiology, Pathophysiology, Clinical Presentations, and Management of Moyamoya Disease

Moyamoya disease (MMD) is a condition characterized by the gradual narrowing and blockage of blood vessels in the brain, specifically those in the circle of Willis and the arteries that supply it. This results in reduced blood flow and oxygen to the brain, leading to progressive symptoms and potential complications. The underlying pathophysiological mechanism remains elucidated. However, recent studies have highlighted numerous etiologic factors: abnormal immune complex responses, susceptibility genes, branched-chain amino acids, antibodies, heritable diseases, and acquired diseases, which may be the great potential triggers for the development of moyamoya disease. Its clinical presentation has varying degrees from transient asymptomatic events to significant neurological deficits. Moyamoya disease (MMD) shows different patterns in children and adults. Children with MMD are more susceptible to ischemic events due to decreased blood flow to the brain. Conversely, adults with MMD are more prone to hemorrhagic events involving brain bleeding. Children with MMD may experience a range of symptoms including motor impairments, sensory issues, seizures, headaches, dizziness, cognitive delays, or ongoing neurological problems. Although adults may present with similar clinical symptoms as children, they are more prone to experiencing sudden onset intraventricular, subarachnoid, or intracerebral hemorrhages. One of the challenges in moyamoya disease is the potential for misdiagnosis or delayed diagnosis, particularly when physicians fail to consider MMD as a possible cause in stroke patients. This review aims to provide a comprehensive overview of recent global studies on the pathophysiology of MMD, along with advancements in its management. Additionally, the review will delve into various surgical treatment options for MMD, as well as its rare occurrence alongside atrioventricular malformations. Exciting prospects include the use of autologous bone marrow transplant and the potential role of Connexin 43 protein treatment in the development of moyamoya disease.

Etiology of anterior choroidal artery infarction:a systematic review

Objective:To systematically review the etiology of anterior choroidal artery(AChA)infarction.Methods:A systematic literature search up to May 11,2024,for AChA infarction with its etiology.Epidemiologic and clinical data of patients,anatomic distribution of the lesions,and etiologic classification of AChA infarction were extracted.Results:A total of 1007 individual patient data was included(967 from retrospective clinical studies and 40 from case reports).Among the clinical research,patients’mean age was 64.7.There were 62.24%of male and 37.76%of female patients.Hypertension(66.04%)was the most common risk factor for patients with AChA infarction.Dyslipidemia(32.92%),diabetes mellitus(30.93%),and smoking(26.54%)were also common risk factors.Moreover,the posterior limb of the internal capsule was the most frequently affected structure.Undetermined etiology(n=173,38.02%),according to the trial of org 10172 in acute stroke treatment(TOAST)etiological classification,was the most common etiology,followed by small vessel disease(n=117,25.71%),large artery atherosclerosis(n=84,18.46%),and cardioembolism(n=63,13.85%).Furthermore,eighteen strokes were caused by other determined etiologies(3.96%).Conclusions:Undetermined etiology was the most common etiology of AChA infarction.Hypertension,dyslipidemia,diabetes mellitus,and smoking were common risk factors for patients with AChA infarction.It is necessary to prevent the risk factors.

Changes in the etiology of liver cirrhosis and the corresponding management strategies

We read with interest the article by Xing Wang,which was published in the recent issue of the World Journal of Hepatology 2023;15:1294-1306.This article focuses particularly on the prevalence and trends in the etiology of liver cirrhosis(LC),prognosis for patients suffering from cirrhosis-related complications and hepatocellular carcinoma(HCC),and management strategies.The etiology of cirrhosis varies according to geographical,economic,and population factors.Viral hepatitis is the dominant cause in China.Vaccination and effective treatment have reduced the number of people with viral hepatitis,but the overall number is still large.Patients with viral hepatitis who progress over time to LC and HCC remain an important population to manage.The increased incidence of metabolic syndrome and alcohol consumption is likely to lead to a potential exponential increase in metabolic dysfunction-associated steatotic liver disease(MASLD)-associated LC and alcoholic liver disease in the future.Investigating the evolution of the etiology of LC is important for guiding the direction of future research and policy development.These changing trends indicate a need for greater emphasis on tackling obesity and diabetes,and implementing more effective measures to regulate alcohol consumption in order to reduce the occurrence of MASLD.In an effort to help cope with these changing trends,the authors further proposed countermeasures for healthcare authorities doctors,and patients.

Etiology and pathogenesis of corona virus disease 2019 on the view of Chinese medicine

Traditional Chinese Medicine has played an important role in the prevention and treatment of the Corona Virus Disease 2019 epidemic.But in views of different TCM scholars there are different opinions about disease name,characteristic of etiology,law of pathogenesis about this epidemic.Based on related literatures,this article overviews of the characteristics of TCM etiology,law of pathogenesis and methods of syndrome differentiation,hoping to find research method that fit in with TCM clinical practice.Prerequisite of treatment is identifying the cause.The clinical manifestations of patients are important to TCM,and the etiological attributes can be inferred from the clinical manifestations.SARS-CoV-2 belongs to exogenous etiological factors,but there are different opinions about its characteristics of six pathogenic factors.Cold,Dampness,Warm,Dry,Toxin,Summer-heat,Wind,are all involved.Thus,different understanding of the pathogenesis and the law of transmission is caused.Such as cold and dampness hurt Yang,furthermore,consumed of Qi;dampness and toxin infected from external environment,turbid dampness produced inside the body;dryness affecting lungs and consume of Yin;warm-heat-turbid-toxin affected lungs,stomach and intestine;and then produced phlegm stagnation or blood stasis,furthermore consumed Qi and Yin.Based on those differences,methods of syndrome differentiation in treatment of COVID-19 are diverse,which contain pattern differentiation of zang-fu organs,pattern differentiation of Wei-defence,Qi,Ying nutrients and blood;pattern differentiation by the eight principles,and pattern differentiation of six meridians.Because of SARS-CoV-2 can spread to the whole country or even the whole world in a short period of time,its pathogenic nature should be roughly the same.So studying the treatment of COVID-19 based on clinical cases,refining the similarities and differences in the clinical presentation of patients with different subtypes during the epidemic,clarification of the etiologic attribution and evolutionary patterns of disease mechanisms,developing a comprehensive understanding of COVID-19 in Chinese medicine is needed.Furthermore,getting a full understanding of COVID-19,and providing reference for the prevention and treatment of unknown infectious diseases.

Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology

Nucleotide variants in cell type-specific gene regulatory elements in the human brain are risk factors for human disease.We measured chromatin accessibility in 1932 aliquots of sorted neurons and non-neurons from 616 human postmortem brains and identified 34,539 open chromatin regions with chromatin accessibility quantitative trait loci(caQTLs).Only 10.4%of caQTLs are shared between neurons and non-neurons,which supports cell type-specific genetic regulation of the brain regulome.Incorporating allele-specific chromatin accessibility improves statistical fine-mapping and refines molecular mechanisms that underlie disease risk.Using massively parallel reporter assays in induced excitatory neurons,we screened 19,893 brain QTLs and identified the functional impact of 476 regulatory variants.Combined,this comprehensive resource captures variation in the human brain regulome and provides insights into disease etiology.

Analysis of Etiology,Diagnosis,and Treatment Strategy and Efficacy of Pulsatile Tinnitus Caused by Abnormal Vascular Anatomy

Objective To investigate the etiology,clinical characteristics,diagnosis,and treatment strategies and efficacy of pulsatile tinnitus(PT)caused by vascular anatomy abnormality.Methods The clinical data of 45 patients with PT in our hospital from 2012 to 2019 were collected and retrospectively analyzed.Results All 45 patients had vascular anatomical abnormalities.The patients were divided into 10 categories according to the different locations of vascular abnormalities:sigmoid sinus diverticulum(SSD),sigmoid sinus wall dehiscence(SSWD),SSWD with high jugular bulb,pure dilated mastoid emissary vein,aberrant internal carotid artery(ICA)in the middle ear,transverse-sigmoid sinus(TSS)transition stenosis,TSS transition stenosis with SSD,persistent occipital sinus stenosis,petrous segment stenosis of ICA,and dural arteriovenous fistula.All patients complained of PT synchronous with heartbeat rhythm.Endovascular interventional therapy and extravascular open surgery were used according to the location of the vascular lesions.Tinnitus disappeared in 41 patients,was significantly relieved in 3 patients,and was unchanged in 1 patient postoperatively.Except for one patient with transient headache postoperatively,no obvious complications occurred.Conclusion PT caused by vascular anatomy abnormalities can be identified by detailed medical history and physical and imaging examination.PT can be relieved or even completely alleviated after appropriate surgical treatments.

Etiology analysis for term newborns with severe hyperbilirubinemia in eastern Guangdong of China

BACKGROUND Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin,resulting in sequelaes such as hearing loss,motor and intellectual development disorders,and even death.The pathogenic factors of neonatal hyperbilirubinemia are complex.Different cases of hyperbilirubinemia may have a single or mixed etiology.AIM To explore the etiological characteristics of severe hyperbilirubinemia in term newborns of eastern Guangdong of China.METHODS Term newborns with severe hyperbilirubinemia in one hospital from January 2012 to December 2021 were retrospectively analyzed.The etiology was determined according to the laboratory results and clinical manifestations.RESULTS Among 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China,32.20%(580/1602)was severe hyperbilirubinemia.Among the causes of severe hyperbilirubinemia,neonatal hemolysis accounted for 15.17%,breast milk jaundice accounted for 12.09%,infection accounted for 10.17%,glucose-6-phosphate dehydrogenase(G6PD)deficiency accounted for 9.14%,and the coexistence of multiple etiologies accounted for 6.55%,unknown etiology accounted for 41.72%.ABO hemolysis and G6PD deficiency were the most common causes in the 20 cases with bilirubin encephalopathy.94 severe hyperbilirubinemia newborns were tested for uridine diphosphate glucuronosyl transferase 1A1(UGT1A1)*6 variant(rs4148323,c.211G>A,p.Arg71Gly),9 cases were 211 G to A homozygous variant,37 cases were 211 G to A heterozygous variant,and 48 cases were wild genotypes.CONCLUSION The main cause for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns,G6PD deficiency and infection.UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia.Targeted prevention and treatment according to the etiology may reduce the occurrence of bilirubin encephalopathy and kernicterus.

Acute cholangitis: Does malignant biliary obstruction vs choledocholithiasis etiology change the clinical presentation and outcomes?

BACKGROUND Whether clinical outcomes of acute cholangitis(AC)vary by etiology is unclear.AIM To compare outcomes in AC caused by malignant biliary obstruction(MBO)and common bile duct stones(CBDS).METHODS This retrospective study included 516 patients undergoing endoscopic retrograde cholangiopancreatography(ERCP)due to AC caused by MBO(MBO group,n=56)and CBDS(CBDS group,n=460).Clinical and laboratory parameters were compared between the groups.Propensity score matching(PSM)created 55 matched pairs.Confounders used in the PSM analysis were age,sex,time to ERCP,and technical success of ERCP.The primary outcome comparison was 30-d mortality.The secondary outcome comparisons were intensive care unit(ICU)admission rate,length of hospital stay(LOHS),and 30-d readmission rate.RESULTS Compared with the CBDS group,the MBO group had significantly lower body temperature,percentage of abnormal white blood cell counts,and serum levels of aspartate aminotransferase,alanine aminotransferase,and creatinine.Body temperature,percent abnormal white blood cell count,and serum aspartate aminotransferase levels remained significantly lower in the MBO group in the PSM analysis.Platelet count,prothrombin time/international normalized ratio,and serum levels of alkaline phosphatase and total bilirubin were significantly higher in the MBO group.The MBO group had a significantly higher percentage of severe AC(33.9%vs 22.0%,P=0.045)and received ERCP later(median,92.5 h vs 47.4 h,P<0.001).However,the two differences were not found in the PSM analysis.The 30-d mortality(5.4%vs 0.7%,P=0.019),ICU admission rates(12.5%vs 4.8%,P=0.028),30-d readmission rates(23.2%vs 8.0%,P<0.001),and LOHS(median,16.5 d vs 7.0 d,P<0.001)were significantly higher or longer in the MBO group.However,only LOHS remained significant in the PSM analysis.Multivariate analysis revealed that time to ERCP and multiple organ dysfunction were independent factors associated with 30-d mortality.CONCLUSION MBO patients underwent ERCP later and thus had a worse prognosis than CBDS patients.Therefore,clinicians should remain vigilant in MBO patients with clinically suspected AC,and perform ERCP for biliary drainage as soon as possible.

ATF3 rSNPs, transcriptional factor binding sites and human etiology

Three rSNPs (rs3125289, rs1877474 and rs11119982) in one intron of the activating transcription factor 3 (ATF3) gene have been significantly associated with the human etiology of hypospadias and may be associated with human disease. These rSNP alleles alter the DNA landscape for potential transcriptional factors (TFs) to attach resulting in changes in transcriptional factor binding sites (TFBS). These TFBS changes are examined with respect to the human etiology of hypospadias which has been found to be significantly associated with the rSNPs.

Viral Etiology Relationship between Human Papillomavirus and Human Breast Cancer and Target of Gene Therapy

Objective To explore the viral etiology of human breast cancer to determine whether there are novel molecular targets for gene therapy of breast cancer and provide evidence for the research of gene therapy and vaccine development for breast cancer. Methods PCR was used to screen HPV16 and HPV18 oncogenes E6 and E7 in the SKBR3 cell line and in 76 paraffin embedded breast cancer tissue samples. RNA interference was used to knock down the expression of HPV18 E6 and E7 in SKBR3 cells, then the changes in the expression of cell-cycle related proteins, cell viability, colony formation, metastasis, and cell cycle progression were determined. Results HPV18 oncogenes E6 and E7 were amplified and sequenced from the SKBR3 cells. Of the patient samples, 6.58% and 23.68% were tested to be positive for HPV18 E6 and HPV18 E7. In the cell culture models, the knockdown of HPV18 E6 and E7 inhibited the proliferation, metastasis, and cell cycle progression of SKBR3 cell. The knockdown also clearly affected the expression levels of cell cycle related proteins. Conclusion HPV was a contributor to virus caused human breast cancer, suggesting that the oncogenes in HPV were potential targets for gene therapy of breast cancer.

Age-related outcomes in patients with cardiogenic shock stratified by etiology

BACKGROUND As a result of improved and novel treatment strategies,the spectrum of patients with cardiovascular disease is consistently changing.Overall,those patients are typically older and characterized by increased burden with comorbidities.Limited data on the prognostic impact of age in cardiogenic shock(CS)is available.Therefore,this study investigates the prognostic impact of age in patients with CS.METHODS From 2019 to 2021,consecutive patients with CS of any cause were included.The prognostic value of age(i.e.,60-80 years and>80 years)was investigated for 30-day all-cause mortality.Spearman’s correlations,Kaplan-Meier analyses,as well as multivariable Cox proportional regression analyses were performed for statistics.Subsequent risk assessment was performed based on the presence or absence of CS related to acute myocardial infarction(AMI).RESULTS 223 CS patients were included with a median age of 77 years(interquartile range:69-82 years).No significant difference in 30-day all-cause mortality was observed for both age-groups(54.6%vs.63.4%,log-rank P=0.169;HR=1.273,95%CI:0.886-1.831,P=0.192).In contrast,when analyzing subgroups stratified by CS-etiology,AMI-related CS patients of the group>80 years showed an increased risk of 30-day all-cause mortality(78.1%vs.60.0%,log-rank P=0.032;HR=1.635,95%CI:1.000-2.673,P=0.050),which was still evident after multivariable adjustment(HR=2.072,95%CI:1.174-3.656,P=0.012).CONCLUSIONS Age was not associated with 30-day all-cause mortality in patients with CS of mixed etiology.However,increasing age was shown to be a significant predictor of increased mortality-risk in the subgroup of patients presenting with AMI-CS.

Etiology, Prevalence, and Management of Oral and Maxillofacial Soft Tissue Injuries in Children at the Komfo Anokye Teaching Hospital, Kumasi-Ghana

Background: Maxillofacial injury may vary from simple soft tissue lacerations to complex fractures of the orofacial region. Soft tissue injuries, whether isolated or in combination with other injuries, form part of the frequent traumatic craniofacial injuries seen at the emergency department. The force of impact and the injury type is directly related to the severity of the injury sustained. This study aimed to analyze the etiological factors, prevalence, and management of oral and maxillofacial soft tissue injuries at the Komfo Anokye Teaching Hospital. Methods: This was a prospective study that involved children presenting with oral and maxillofacial injuries at the Accident and Emergency Department and the Oral and Maxillofacial Surgery unit of the Komfo Anokye Teaching Hospital in Kumasi between the period of April to October 2020 (6 months). Patient selection was by convenience sampling targeting all children with injuries who met the inclusion criteria. Inclusion criteria were children below the age of 18 years whose parents or caregivers consent to participation. Children with maxillofacial injuries as a result of burns were excluded from the study. Results: During the study period a total of 134 children were reviewed with oral and maxillofacial injuries at KATH. Of these, 107 (78.9%) were recorded cases of orofacial soft tissue injuries. There were 63 (58.9%) males and 44 (41.1%) females and the male-to-female ratio was 1.5:1. The age range of patients studied was 8 months – 17 years, with mean age ± SD being 9.5 ± 5.3 years. Road Traffic Crash (50.5%) was the most common etiology of which Motor cycle crash constituted 24.3% and Pedestrian knockdown was 19.6%. Falls (42.1%) were the next most common etiology. The lips (19.8%) and the forehead (18.5%) were the most frequently injured sites on the face whiles the tongue (3.3%) had the most injuries intraorally. Laceration (45.7%) was the most frequent injury reviewed, followed by abrasions (35.8%). Most of the soft tissue injuries underwent primary closure (56.3%). A complication rate of 21.2% was recorded in this study and hypertrophic scarring (11.3%) was the most observed.

Epidemiology and etiology of chemical ocular injury:A brief review

Chemical ocular injury is one of the common ophthalmologic emergencies that can cause vision loss and serious complications.Despite all protective measures,it continues to be a serious public health problem,especially in young male patients.Although it is known that injuries occur most frequently in the workplace and in young male patients,there is a variable frequency and distribution in different regions around the world.In addition,with the coronavirus disease 2019 pandemic,there are changing trends in ocular chemical injuries.This review aims to specify an update on the epidemiological and etiological features of ocular chemical injuries.

The Pharmacologic Intensification of the Water Dissociation Process, or Human Photosynthesis, and Its Effect over the Recovery Mechanisms in Tissues Affected by Bloodshed of Diverse Etiology

The photoreceptor layer of the human retina has several characteristics that are unique. Their energy requirements are the highest in the organism;in proportion, rods and cones require 10-fold the energy consumed by the cerebral cortex, 6-fold more than the cardiac muscle, and 3-fold more than the renal cortex. Astonishingly, the photoreceptor layer has no blood vessels at all. So, where is the energy to this tissue coming from? In this article we’ll describe the hitherto unknown explanation.

Human pluripotent stem cell-derived kidney organoids:Current progress and challenges

Human pluripotent stem cell(hPSC)-derived kidney organoids share similarities with the fetal kidney.However,the current hPSC-derived kidney organoids have some limitations,including the inability to perform nephrogenesis and lack of a corticomedullary definition,uniform vascular system,and coordinated exit path-way for urinary filtrate.Therefore,further studies are required to produce hPSC-derived kidney organoids that accurately mimic human kidneys to facilitate research on kidney development,regeneration,disease modeling,and drug screening.In this review,we discussed recent advances in the generation of hPSC-derived kidney organoids,how these organoids contribute to the understanding of human kidney development and research in disease modeling.Additionally,the limitations,future research focus,and applications of hPSC-derived kidney organoids were highlighted.

Acute hepatitis of unknown etiology in an adult female:A case report

BACKGROUND Acute liver injury(ALI)refers to inflammation of the hepatic parenchyma without hepatic encephalopathy that lasts less than 6 mo.When the etiology is unknown,Acute Hepatitis of Unknown Origin(AHUO)can present as a diagnostic and treatment challenge.AHUO in the adult population is unusual and poorly documented.It has an incidence between 11%and 75%.Currently,no treatment guidelines exist.With no identified cause,treatment is often blind,and the wrong treatment plan may have unintended consequences.CASE SUMMARY We present the case of a 58-year-old woman who presented to the emergency room for elevated liver function tests(LFTs).Her symptoms started 10 d prior to admission and included nausea,vomiting,jaundice,decreased appetite,weight loss of 10 lbs,and dark urine.She denied drinking alcohol or taking any hepatotoxic agents,including acetaminophen,statins,vitamins,or supplements.She was admitted to the hospital,and an etiologic work-up was carried out.Her initial bloodwork revealed elevated liver enzymes(alanine aminotransferase 2500 U/L,aspartate aminotransferase 3159 U/L,and alkaline phosphatase 714 U/L)and elevated total bilirubin of 6.4 mg/dL.She tested negative for common infectious etiologies such as hepatotropic viruses A,B,C,and E.Further infective work-up revealed negative serology for cytomegalovirus,Epstein-Barr virus,herpes simplex virus 1&2,and human immunodeficiency virus.Her autoanti-body test results were negative,including anti-smooth muscle antibody,anti-mitochondrial antibody,and anti-liver kidney microsome 1 antibody.Magnetic resonance cholangiopancreatography ruled out biliary causes of elevated LFTs,and her core liver biopsy proved inconclusive.Over the course of her hospital stay,the patient's LFTs improved with supportive care and without steroids.CONCLUSION Idiopathic hepatitis makes treatment challenging.It can leave patients feeling confused and unfulfilled.Thus,educating the patient thoroughly for shared decision-making and management becomes essential.

PRaG 3.0 therapy for human epidermal growth factor receptor 2-positive metastatic pancreatic ductal adenocarcinoma:A case report

BACKGROUND Pancreatic ductal adenocarcinoma(PDAC)is a highly fatal disease with limited effective treatment especially after first-line chemotherapy.The human epidermal growth factor receptor 2(HER-2)immunohistochemistry(IHC)positive is associated with more aggressive clinical behavior and shorter overall survival in PDAC.CASE SUMMARY We present a case of multiple metastatic PDAC with IHC mismatch repair proficient but HER-2 IHC weakly positive at diagnosis that didn’t have tumor regression after first-line nab-paclitaxel plus gemcitabine and PD-1 inhibitor treatment.A novel combination therapy PRaG 3.0 of RC48(HER2-antibody-drug conjugate),radio-therapy,PD-1 inhibitor,granulocyte-macrophage colony-stimulating factor and interleukin-2 was then applied as second-line therapy and the patient had confirmed good partial response with progress-free-survival of 6.5 months and overall survival of 14.2 month.She had not developed any grade 2 or above treatment-related adverse events at any point.Percentage of peripheral CD8^(+) Temra and CD4^(+) Temra were increased during first two activation cycles of PRaG 3.0 treatment containing radiotherapy but deceased to the baseline during the maintenance cycles containing no radiotherapy.CONCLUSION PRaG 3.0 might be a novel strategy for HER2-positive metastatic PDAC patients who failed from previous first-line approach and even PD-1 immunotherapy but needs more data in prospective trials.

Therapeutic utility of human umbilical cord-derived mesenchymal stem cells-based approaches in pulmonary diseases:Recent advancements and prospects

Pulmonary diseases across all ages threaten millions of people and have emerged as one of the major public health issues worldwide.For diverse disease con-ditions,the currently available approaches are focused on alleviating clinical symptoms and delaying disease progression but have not shown significant therapeutic effects in patients with lung diseases.Human umbilical cord-derived mesenchymal stem cells(UC-MSCs)isolated from the human UC have the capacity for self-renewal and multilineage differentiation.Moreover,in recent years,these cells have been demonstrated to have unique advantages in the treatment of lung diseases.We searched the Public Clinical Trial Database and found 55 clinical trials involving UC-MSC therapy for pulmonary diseases,including coronavirus disease 2019,acute respiratory distress syndrome,bron-chopulmonary dysplasia,chronic obstructive pulmonary disease,and pulmonary fibrosis.In this review,we summarize the characteristics of these registered clinical trials and relevant published results and explore in depth the challenges and opportunitiesfaced in clinical application.Moreover,the underlying mole-cular mechanisms involved in UC-MSC-based therapy for pulmonary diseases are also analyzed in depth.In brief,this comprehensive review and detailed analysis of these clinical trials can be expected to provide a scientific reference for future large-scale clinical application.

Humanβ-defensin-1 affects the mammalian target of rapamycin pathway and autophagy in colon cancer cells through long noncoding RNA TCONS_00014506

BACKGROUND Colorectal cancer has a low 5-year survival rate and high mortality.Humanβ-defensin-1(hBD-1)may play an integral function in the innate immune system,contributing to the recognition and destruction of cancer cells.Long non-coding RNAs(lncRNAs)are involved in the process of cell differentiation and growth.AIM To investigate the effect of hBD-1 on the mammalian target of rapamycin(mTOR)pathway and autophagy in human colon cancer SW620 cells.METHODS CCK8 assay was utilized for the detection of cell proliferation and determination of the optimal drug concentration.Colony formation assay was employed to assess the effect of hBD-1 on SW620 cell proliferation.Bioinformatics was used to screen potentially biologically significant lncRNAs related to the mTOR pathway.Additionally,p-mTOR(Ser2448),Beclin1,and LC3II/I expression levels in SW620 cells were assessed through Western blot analysis.RESULTS hBD-1 inhibited the proliferative ability of SW620 cells,as evidenced by the reduction in the colony formation capacity of SW620 cells upon exposure to hBD-1.hBD-1 decreased the expression of p-mTOR(Ser2448)protein and increased the expression of Beclin1 and LC3II/I protein.Furthermore,bioinformatics analysis identified seven lncRNAs(2 upregulated and 5 downregulated)related to the mTOR pathway.The lncRNA TCONS_00014506 was ultimately selected.Following the inhibition of the lncRNA TCONS_00014506,exposure to hBD-1 inhibited p-mTOR(Ser2448)and promoted Beclin1 and LC3II/I protein expression.CONCLUSION hBD-1 inhibits the mTOR pathway and promotes autophagy by upregulating the expression of the lncRNA TCONS_00014506 in SW620 cells.

Advances of Genetic Testing Technology in Etiology Diagnosis of Recurrent Spontaneous Abortion

Recurrent spontaneous abortion (RSA) is a complex and heterogeneous disorder with multiple etiologies. Genetic factors are thought to play an important role in the etiology of RSA. With recent advances in genetic testing technologies, there has been an increasing interest in using these tools to diagnose the etiology of RSA. This review discusses the different types of genetic testing methods, such as karyotyping, chromosomal microarray analysis, next-generation sequencing, and their applications in the diagnosis of the etiology RSA. The use of genetic testing in the diagnosis of RSA has the potential to improve the accuracy of diagnosis and the understanding of the underlying mechanisms of the disorder, which could lead to better management and treatment of affected individuals.