genetic

摘要： Idiopathic granulomatous ureteritis (IGU) is a rare autoimmune disorder. Multiple case reports led to defining its clinicopathological inclusion criteria in 1997. Surgical resection and primary reanastomosis, of such pseudotumor, were considered its definitive management and a 4-months corticosteroid-therapy was used once for persistent ureteric lesion despite of 3-months stenting. Long-term follow-up of such disease is limited and management of its extensive and recurrent disease is lacking. In our case report, a 47-year-man had history of a biopsy-proven IGU 4 years ago that was treated with resection and ureteral reimplantation in a cystoplastic (augmented) bladder. Moreover, he had received Corticosteroids and Azathioprine for a total of 2 years to avoid recurrence. Two years later, he presented with recurrent abdominal pains, urinary tract infections and ultimately;bladder neck disease. Cystoscopic examination revealed extensive bladder masses and severe left ureteric stricture. Biopsy of the bladder lesions confirmed the idiopathic granulomatous disease. He improved, with immunosuppressive therapy that included 3 months of Corticosteroids and Mycophenolate mofetil followed by maintenance therapy with Mycophenolate mofetil. Previous animal studies have shown local hyperimmune response with malformation of the transitional epithelium in a genetically predisposed mice indicating genetic predisposition with immune-mediated expression. Hence, in our patient, we proposed long-term immunosuppressive therapy and follow-up. In conclusion;our case report confirms the autoimmune etiology of such disorder and provides new line of management of its extensive and recurrent variant.

摘要： Insulin resistance(IR)is insulin failure in normal plasma levels to adequately stimulate glucose uptake by the peripheral tissues.IR is becoming more common in children and adolescents than before.There is a strong association between obesity in children and adolescents,IR,and the metabolic syndrome components.IR shows marked variation among different races,crucial to understanding the possible cardiovascular risk,specifically in high-risk races or ethnic groups.Genetic causes of IR include insulin receptor mutations,mutations that stimulate autoantibody production against insulin receptors,or mutations that induce the formation of abnormal glucose transporter 4 molecules or plasma cell membrane glycoprotein-1 molecules;all induce abnormal energy pathways and end with the development of IR.The parallel increase of IR syndrome with the dramatic increase in the rate of obesity among children in the last few decades indicates the importance of environmental factors in increasing the rate of IR.Most patients with IR do not develop diabetes mellitus(DM)type-II.However,IR is a crucial risk factor to develop DM type-II in children.Diagnostic standards for IR in children are not yet established due to various causes.Direct measures of insulin sensitivity include the hyperinsulinemia euglycemic glucose clamp and the insulin-suppression test.Minimal model analysis of frequently sampled intravenous glucose tolerance test and oral glucose tolerance test provide an indirect estimate of metabolic insulin sensitivity/resistance.The main aim of the treatment of IR in children is to prevent the progression of compensated IR to decompensated IR,enhance insulin sensitivity,and treat possible complications.There are three main lines for treatment:Lifestyle and behavior modification,pharmacotherapy,and surgery.This review will discuss the magnitude,implications,diagnosis,and treatment of IR in children。

摘要： Non-alcoholic fatty liver disease(NAFLD)is the most common chronic liver disease worldwide and is strongly associated with metabolic deregulation.More recently,a significant impact of parental NAFLD in the offspring was demonstrated and has been widely discussed.However,pathogenetic pathways implicated in the inheritance by the offspring and relatives are still under debate.Probably,multiple mechanisms are involved as well as in NAFLD pathogenesis itself.Among the multifactorial involved mechanisms,genetic,epigenetic and environmental backgrounds are strongly related to NAFLD development in the offspring.Thus,based on recent evidence from the available literature concerning genetic,epigenetic and environmental disease modifiers,this review aimed to discuss the relationship between parental NAFLD and its impact on the offspring.

摘要： BACKGROUND Primary hypertension is a common clinical disease.Pheochromocytoma and paraganglioma is a rare cause of secondary hypertension.The diagnosis of the latter is still difficult,and the relationship between the two is not clear.The successful diagnosis of this case confirmed that standardized etiological investigation of secondary hypertension is necessary,contributes to the accurate diagnosis of rare diseases,and is conducive to the formulation or optimization of treatment plans.It shows an example of the coexistence of primary hypertension and secondary hypertension.CASE SUMMARY The patient was a 54-year-old male and was hospitalized with high blood pressure for 4 years.The patient’s blood pressure was measured at 150/100 mmHg during physical examination 4 years ago and had no paroxysmal or persistent elevated blood pressure,no typical triad of headache,palpitation,and sweating,without postural hypotension.After taking nifedipine sustained release tablets intermittently,the blood pressure did not meet the standard.Physical examination revealed blood pressure of 180/120 mmHg.There was no abnormality in cardiopulmonary and abdominal examination.The results of blood and/or urinary catecholamines/metanephrine and normetanephrine before and after operation were normal.Fundus examination revealed retinal arteriosclerosis in both eyes.There was a history of paraganglioma diagnosed by pathology after retroperitoneal tumor resection,a family history of hypertension,and a history of passive smoking.The clinical diagnosis was subclinical paraganglioma,primary hypertension,and hypertensive fundus lesions.The patient’s blood pressure was regulated,blood lipid was reduced,and anti-inflammatory,and symptomatic support were given.After treatment,the blood pressure was stable and up to standard without discomfort symptoms.CONCLUSION Subclinical paraganglioma and primary hypertension can coexist.The holistic thinking in clinical practice is helpful to the early diagnosis of rare diseases.

摘要： BACKGROUND Celiac disease(CD)is a multifactorial disease,but genetic factors play a major role in its etiology.It has been known that human leucocyte antigen(HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors.The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes.AIM To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients.METHODS Patients with biopsy-proven CD and their siblings were included in the study;those who did not have HLA genotyping were excluded from the study.All siblings were on a gluten-containing diet.The HLA genotyping,tissue transglutaminase antibody IgA antibody test,and total IgA test were performed in all participants.RESULTS A total of 57 celiac patients and their 112 siblings were included in the study.The mean age of celiac patients and siblings were 10.30±3.87 years and 9.90±6.11 years,respectively.HLA-DQ2/DQ8 alleles were detected in 98.2%of patients with CD and 90.2%of siblings of celiac patients.HLA-DQ genotypes were present in all siblings diagnosed with CD.Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings.CD was diagnosed in 12 siblings(10.7%)by intestinal biopsy.CONCLUSION The prevalence of CD was found to be 10.7%in siblings of celiac patients in our study.One-third of the siblings diagnosed with CD were asymptomatic.We detected HLA-DQ alleles in 98.2%of celiac patients and 100%in siblings diagnosed with CD.In addition,1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later.Therefore,we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination.Since the risk of developing CD is much higher in asymptomatic siblings,we recommend that siblings should be screened for CD even if they are asymptomatic.

摘要： To select elite materials,the growth traits of 32 Betula platyphylla clones at three separated northern sites in Northeast China were investigated and analyzed.The results showed that there were significant differences among all variation sources in the different investigated traits(P<0.01).Except for the carbon contents,all the coeffi-cients of phenotypic variation of the other investigated traits were higher than 10%.The repeatability of different traits ranged from 0.760 to 0.998.Correlation analysis showed that tree height were significantly correlated with diameter at breast height,but neither was significantly correlated with leaf traits nor element contents.Additive main effects and multiplicative interaction analysis showed that genotype,environment and genotype×environment interactions were significantly different in diameter at breast height,which indicated that environment had a significant effect on genotype.Comprehensive assessment results showed that three clones with high and stable diameters at breast height were selected,and the genetic gains of diameter at breast height on sites Maoershan,Qingan,and Yongji were 21.24%,20.58%,and 38.65%,respectively.The results could provide a theoretical basis for elite clone selection in B.platyphylla and other broad leaved species.

摘要： Immature embryos of inbred maize(Zea mays)lines(H8183,H8184,and H8185)were used for Agrobacterium infection.We used theβ-glucuronidase gene(GUS)as the target gene and the glufosinate resistance gene(bar)as the selection marker.We conducted research on several aspects,such as different genotypes,coculture conditions,screening agent concentrations,and concentrations of indole-3-butytric acid(IBA),6-benzylaminopurine(6-BA),and ascorbic acid(Vc)in the differentiation medium.We optimized the genetic transformation system,and the obtained results indicated that among the three lines studied,the induction rate of H8185 was the highest at 93.2%,followed by H8184,with H8183 having the lowest induction rate(80.1%).The best coculture method was that using the N6 coculture medium layered with a sterile filter paper.Using orthogonal analysis,we found that the optimal combination of the three factors in the differentiation medium was A_(3)(1 mg mL^(−1)IBA),B_(3)C_(1)(1.6 mg mL^(−1)6-BA),and D_(3)(1.5 mg mL^(−1)Vc).Through GUS staining analysis,Bar test-strip analysis,and polymerase chain reaction,five transgenic plants were finally obtained.This study established the optimal conditions for genetic transformation in maize.

摘要： Health care has evolved since the reduction in mortality caused by infections as well as chronic and noncommunicable diseases.This has had a direct influence on the expense of public health and individual health care,as well as the quality of health care.It’s time to move away from traditional reactive medicine centered on symptoms,diagnosis,and treatment to a system that targets illness before it develops and,if it cannot be prevented,treats it in a customized manner.The expansion of established techniques to understanding and treating disease is personalized medicine.Individual genetic and epigenetic information is a fast-growing multiple-faceted therapeutic strategy,used to customize pharmacological therapy or preventative treatment.Personalized medicine seeks to make early intervention better diagnoses and to improve medication development and therapy.In this study,the impact of customized medicine on the therapy,its applications,and prospects for healthcare are evaluated.

摘要： Despite the general decrease in overall incidence of colorectal cancer since the early 1990s,the incidence of colorectal cancer in patients less than 50 years old has nearly doubled.A systematic review was performed using the PubMed database(2011-2020)and Cochrane Database of Systematic Reviews(2011-2021)to identify studies(published in English)evaluating epidemiologic,clinical,hereditary,and molecular features;as well as evaluation,management,and prognosis of youngonset colorectal cancer patients.Our search yielded a total of 3401 articles,after applying our inclusion criteria.We fully reviewed 94 full-length studies.This systematic review demonstrates the increasing incidence of young-onset colorectal cancer and highlights the importance of being hypervigilant for the differential diagnosis colorectal cancer when evaluating a young adult who presents with gastrointestinal symptoms.

摘要： With the growing prevalence of obesity and diabetes in the United States and across the world,a rise in the overall incidence and prevalence of non-alcoholic fatty liver disease(NAFLD)is expected.The risk factors for NAFLD are also associated with the development of chronic kidney disease(CKD).We review the epidemiology,risk factors,genetics,implications of gut dysbiosis,and specific pathogenic mechanisms linking NAFLD to CKD.Mechanisms such as ectopic lipid accumulation,cellular signaling abnormalities,and the interplay between fructose consumption and uric acid accumulation have led to the emergence of potential therapeutic implications for this patient population.Transplant evaluation in the setting of both NAFLD and CKD is also reviewed.Potential strategies for surveillance and management include the monitoring of comorbidities,the use of non-invasive fibrosis scoring systems,and the measurement of laboratory markers.Lastly,we discuss the management of patients with NAFLD and CKD,from preventative measures to experimental interventions.