简介：瞄准：有希望地在年轻病人学习发生和尖锐憩室炎的自然科学。方法：与尖锐憩室炎的诊断在我们在2000年1月之间的医院就医到2005年2月的207个病人的一个总数被包括。他们的人口统计的特征，病历，physical，X光线照相术、内视镜的调查结果以及治疗被记录。病人们被跟随为第一年的每6瞬间并且以后每年。结果：吝啬的病人的年龄是61(范围27-92)年。25个病人(12%)比45年年轻。尖锐憩室炎是显著地，在在年轻年龄组的男性之中流行的更多作为与老年相比组织(19/25，76%对61/182，33%，分别地P=0.0001)。复杂并发症更经常发生在年轻年龄组；32%对13%，(P=0.002)。在后续期间，6个病人(28%)在老年组作为与87个病人(55%)相比在年轻年龄组仍然保持无征状(P=0.024)。作为结果，sigmoidectomies是被执行两次经常在年轻年龄组(38%对13%，P=0.002)。结论：在年轻病人的憩室炎有男优势，有复杂并发症和更高的再发率的更高的率的一堂更好攻击的功课。一条更早外科的途径可能与尖锐憩室炎在年轻病人被考虑。

简介：AbstractPharyngitis is common in children, accounting for nearly 12 million visits annually in the United States. Streptococcus pyogenes or group A streptococcus (GAS) is the most common bacterial cause of pharyngitis for which antibiotics are indicated. Antibiotic treatment of streptococcal pharyngitis virtually eliminates the presence of bacteria from the pharynx and thus removes the risk of subsequent rheumatic fever. GAS is spread from person to person via respiratory droplets with a short incubation period of 2~5 days. GAS pharyngitis peaks in the late winter and early spring months when children are predominately indoors for school and sports. Colonization is also higher in winter months, and while up to 20% of school age children are colonized with GAS in their throat during this time, colonization has not been shown to contribute to the spread of disease. In low- and middle-income countries and other situations in which crowding is common (e.g., schools), outbreaks of pharyngitis are common. GAS pharyngitis can occur at all ages and it is most common in school-aged children with a peak at 7~8 years of age. Pharyngitis caused by GAS is rare in children <3 years of age and becomes much less common in late adolescence through adulthood.

简介：无

简介：AbstractTonsillectomy with and without adenoidectomy is a frequently performed surgical procedure in children. Although a common procedure, it is not without significant risk. It is critical for anesthesiologists to consider preoperative, intraoperative, and postoperative patient factors and events to optimize safety, especially in young children. In the majority of cases, the indication for adenotonsillectomy in young children is obstructive breathing. Preoperative evaluation for patient comorbidities, especially obstructive sleep apnea, risk factors for a difficult airway, and history of recent illness are crucial to prepare the patient for surgery and develop an anesthetic plan. Communication and collaboration with the otolaryngologist is key to prevent and treat intraoperative events such as airway fires or hemorrhage. Postoperative analgesia planning is critical for safe pain control especially for those patients with a history of obstructive sleep apnea and opioid sensitivity. In young children, it is important to also consider the impact of anesthetic medications on the developing brain. This is an area of continuing research but needs to be weighed when planning for surgical treatment and when discussing risks and benefits with patients’ families.

简介：AbstractBackground:Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.Methods:From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.Results:The survey determined 18 patients having genetic variants causing MODY (6 HNF1A, 5 GCK, 3 HNF4A, 2 INS, 1 PDX1, and 1 PAX4). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.Conclusion:The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A-, GCK-, and HNF4A-MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.

简介：无

简介：无

简介：AIMTo在国际合作的上下文在巴拉圭的一个农村区域在年轻题目评估折射错误的分发竞选1466个年轻题目的blindness.METHODSA样品的预防(从3～22岁)，与11.21的吝啬的年龄

简介：

简介：AbstractBackground:Ankylosing spondylitis (AS) is a common chronic progressive rheumatic disease. The aim of this study was to explore factors influencing abnormal bone mineral density (BMD) in young and middle-aged patients with AS.Methods:From July 2014 to August 2018, hospitalized patients with AS and health examinees in the health examination center of our clinics, ranging in age from 20 to 50 years, were monitored. The BMD of the lumbar spine and femoral neck of AS patients and those of a healthy control group were measured using dual-energy X-ray absorption. The BMDs of AS patients were compared with respect to age, course of disease, iritis, smoking habits, sex, height, weight, body mass index (BMI), medication use, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), platelet volume, platelet count, uric acid (UA), alkaline phosphatase (AKP), and calcium ion levels. Single-nucleotide polymorphisms (SNPs) related to BMD were screened using genome-wide association analysis.Results:There was no statistical difference in the proportion of abnormal bone masses between the different body parts. The BMD of all bones in AS patients was lower than that in healthy controls (P < 0.05). Additionally, BMD was correlated with serum calcium and CRP in AS patients (P < 0.05), but not with age, platelet volume, platelet count, ESR, UA, AKP, height, weight, and BMI. The incidence of abnormal bone mass in AS patients was correlated with sex (P < 0.05), but not with medication use, iritis, or smoking. BMD of the lumbar spine in AS patients did not correlate linearly with the course of the disease, but BMD of the femoral neck correlated linearly with the course of the disease (P < 0.05). BMD was correlated with multiple SNPs in patients with AS. Lumbar BMD was correlated with rs7025373 and rs7848078. Femoral head BMD was correlated with 3:102157365, 3:102157417, rs1252202, rs1681355, rs3891857, rs7842614, and rs9870734, suggesting that genetic factors play a role in BMD in patients with AS.Conclusions:The proportion of abnormal bone mass in AS patients was higher than that in healthy individuals of the same age. The factors related to BMD in patients with AS are gender, CRP, and blood calcium. The BMD of the femoral neck of AS patients decreases with the course of the disease, but BMD of the lumbar spine is not related to the course of the disease. BMD in AS patients is associated with multiple SNPs.

简介：BackgroundTheremaybedysregulationofcirculatingmicroRNAsinacutemyocardialinfarction(AMI),whichisanaging-relatedprocess.However,thedifferencebetweenyoungandelderlypeopleinexpressionlevelofcirculatingmiR-21inAMIpatientshasnotbeeninvestigated.MethodsThestudyincluded72consecutivepatientswithAMI.ThegroupIconsistedof43patientsagedequaltoorabove65yearsandthegroupIIconsistedof29patientsagedequaltoorbelow45years.Real-timeRT-PCRwasappliedtodetectserummiR-21expressionlevelsatthetimeofmechanicalreperfusionand12h,D1,D3andD7afterPCI,respectively.ResultsTheexpressionlevelofmiR-21inAMIpatientsincreasedmarkedly12hafterPCIandreachedthepeakatD1afterPCIinbothgroups.TherewasnodifferenceofmiR-21expressionbetweenGroupⅠandⅡatthetimeofmechanicalreperfusion(5.12±0.73vs.4.98±0.87)andD7afterPCI(1.28±0.75vs.1.94±0.89),However,groupⅠpatientsexhibitedhighermiR-21expressionlevelthangroupⅡat12h(7.96±0.78vs.4.23±0.77,P<0.05),D1(9.32±0.89vs.6.12±0.92,P<0.05)andD3(4.78±0.91vs.2.97±0.77,P<0.05)afterPCI,respectively.ConclusionOurdatarevealanincreaseofmiR-21inpatientswithAMImaybeamechanismofmyocardialischemiareperfusioninjury.TheexpressionofmiR-21wasrelatedtothedevelopmentandprogressionofAMI,andthereisanage-relatedchangeintheexpressionofmiR-21inacutemyocardialinfarctionpatients.

简介：AIMDevelopmentaltoxicitytestingtocurrentinternationalguidelinesinvolvesexposureofpregnantanimals,mostlyratsandrabbits,andsubsequentassessmentoftoxiceffectsintheirfetuses.Alternativemethodshavebeendevelopedsince1980s.Themostcomplexassaysinthisareamakedistinctiveandextensiveuseofisolatedpostimplantationrodentembryoswhichareculturedinvitroduringthephaseofmajororganogenesis.Theobjectiveofthisstudyistoestablishaninvitroembryotoxicitytest----basedonpostimplatation9.5dwholeembryoculture(WEC)and3T3celltoxicity.Thepossibilitiesfortheirapplicationasembryotoxicityscreenshavebeeninvestigated.

简介：Noisepollutionisamajorhazardousfactortohumanhealthandislikelyharmfulforvulnerablegroupssuchaspre-terminfantsunderlifesupportsysteminanintensivecareunit.Previousstudieshavesuggestedthatnoiseexposureimpairschildren’slearningabilityandcognitiveperformanceandcognitivefunctionsinanimalmodelsinwhichtheeffectismainlyattributedtotheoxidantstressofnoiseonthecognitivebrain.Thepotentialroleofnoiseinducedhearingloss(NIHL),ratherthantheoxidantstress,hasalsobeenindicatedbyadepressionofneurogenesisinthehippocampuslongafterabriefnoiseexposure,whichproducesonlyatentativeoxidantstress.ItisnotclearifnoiseexposureandNIHLduringearlydevelopmentexertsalongtermimpactoncognitivefunctionandneurogenesistowardsadulthood.Inthepresentstudy,abriefnoiseexposureathighsoundlevelwasperformedinneonatalC57BL/6Jmice(15daysafterbirth)toproduceasignificantamountofpermanenthearinglossasproved2monthsafterthenoise.Atthisage,thenoise-exposedanimalsshoweddeterioratedspatiallearningandmemoryabilitiesandareductionofhippocampalneurogenesisascomparedwiththecontrol.Theaveragedhearingthresholdwasfoundtobestronglycorrelatedwiththescoresforspatiallearningandmemory.Weconsidertheeffectsobservedarelargelyduetothelossofhearingsensitivity,ratherthantheoxidantstress,duetothelongintervalbetweennoiseexposureandtheobservations.

简介：AbstractPurpose:As COVID-19 spreads globally and affects people's health, there are concerns that the pandemic and control policies may have psychological effects on young people (age from 17 to 35 years). This psychological impact might vary in different countries, and thus we compared the prevalence of self-reported psychological distress, loneliness and posttraumatic stress symptoms (PTSS) among young people in the United Kingdom (UK) and China at the beginning of the COVID-19 pandemic.Methods:Data of this study came from two sources. One source was the first wave of COVID-19 study in Understanding Society, a special wave of the UK household longitudinal study, which provided the high-quality, national-wide representative panel data. The sample comprised 1054 young people. The other source was an online survey on the mental health of 1003 young people from Shanghai, a highly developed area in China. The questionnaire included questions on the prevalence of common mental disorders (cut-off score ≥ 4), loneliness and potential PTSS (cut-off ≥ 33). Univariable analyses were conducted to test the differences in the self-reported prevalence of psychological distress and loneliness between the two groups. Multivariable logistic regression analyses were run to explore the predictors of psychological distress and loneliness among all the young people from England and Shanghai.Results:Among the samples with self-reported psychological distress, the UK sample accounted for 34.4% (n=1054) and the Chinese sample accounted for 14.1% (n=1003). The difference between the two groups was statistically significant (p < 0.001). Additionally, 57.1% of people in the UK and 46.7% in China reported that they sometimes or often felt lonely, of which the difference is statistically significant (p < 0.001). Regression analysis of the entire samples showed that nationality, gender, psychotherapy and loneliness were significant predictors of 12-item General Health Questionnaire scores, while the variables of age and living alone were not. Significant predictors of self-reported loneliness were the nationality, gender, age, living alone and psychotherapy. In China, 123 (12.3%) young people, 49 men (11.3%) and 74 women (13.0%), met the criteria of PTSS symptoms (cut-off scores ≥ 33). These scores were only collected in China.Conclusion:This evidence suggests that mental health and loneliness reported by young people were lower in China than that in the UK during the studied period. More research is needed to understand these differences. If the differential negative psychological impacts are confirmed, country-specific measures of prevention and intervention should be adopted to improve the mental health of young people under the ongoing impact of the pandemic.

简介：AbstractBackground:While malaria morbidity and mortality have declined since 2000, viral central nervous system infections appear to be an important, underestimated cause of coma in malaria-endemic Eastern Africa. We aimed to describe the etiology of non-traumatic comas in young children in Benin, as well as their management and early outcomes, and to identify factors associated with death .Methods:From March to November 2018, we enrolled all HIV-negative children aged between 2 and 6 years, with a Blantyre Coma Score ≤ 2, in this prospective observational study. Children were screened for malaria severity signs and assessed using a systematic diagnostic protocol, including blood cultures, malaria diagnostics, and cerebrospinal fluid analysis using multiplex PCR. To determine factors associated with death, univariate and multivariate analyses were performed.Results:From 3244 admissions, 84 children were included: malaria was diagnosed in 78, eight of whom had a viral or bacterial co-infection. Six children had a non-malarial infection or no identified cause. The mortality rate was 29.8% (25/84), with 20 children dying in the first 24 h. Co-infected children appeared to have a poorer prognosis. Of the 76 children who consulted a healthcare professional before admission, only 5 were prescribed adequate antimalarial oral therapy. Predictors of early death were jaundice or increased bilirubin [odd ratio (OR)= 8.6; 95% confidential interval (CI): 2.03–36.1] and lactate > 5 mmol/L (OR= 5.1; 95% CI: 1.49–17.30). Antibiotic use before admission (OR = 0.1; 95% CI: 0.02–0.85) and vaccination against yellow fever (OR= 0.2, 95% CI: 0.05–0.79) protected against mortality.Conclusions:Infections were found in all children who died, and cerebral malaria was by far the most common cause of non-traumatic coma. Missed opportunities to receive early effective antimalarial treatment were common. Other central nervous system infections must be considered in their management. Some factors that proved to be protective against early death were unexpected.

简介：在四川省的Liangshan府，中国，有HIV感染的高流行，它在从注射药使用(IDU)的传播的模式的一个变化是反射的到异性爱的交际。然而，很少研究在多数Yi人口之中集中于HIV相关的异性爱的风险行为。这研究的目的是探索一个利已的性网络的特征并且估计随便性行为的流行。Yi村民(n=108)15-35年，报导了的人，在上一年以内性交至于他们的性行为和网络被会见。深入的会见和焦点组讨论在性标准上提供了增补信息。逻辑回归分析被用来计算unadjusted机会比率(ORs)和95%；信心间隔(CI)。大多数回答者报导了在他们的生活，和66.7%在一些时间有随便性别；报导多重性合伙。仅仅21.3%；曾经报导了使用了避孕套。在学习年期间，137个搭挡的一个总数涉及153性合伙。在报导性合伙之中，67.3%；从一种随便性关系发源。为在尺寸≥的部件的网络成员；3，56.9%；涉及并发的性合伙。从来没结婚了过(或：2.11；95%；CI：1.03-4.33)并且更年轻的年龄(或：0.89；95%；CI：0.83-0.95)两个都与在尺寸≥的一个部件被联系；3。尺寸(或：2.99；95%；CI：1.17-7.66)，对(或：0.54；95%；CI：0.39-0.74)，利已的性网络的弱部件的数字(或：30.04；95%；CI：6.47-139.46)并且性(或：0.19；95%；CI：0.06-0.67)都与在并发的性合伙被联系。为在四川省的Yi种族少数的HIV相关的干预必须因此探讨并发的性合伙并且支持避孕套使用。

简介：无

简介：AbstractObjective:In contrast to the most commonly reported forms of maturity-onset diabetes of the young (MODY), including MODY2, MODY3 and MODY5, MODY6 is a relatively rare subtype. To investigate whether NEUROD1 is responsible for MODY in Chinese individuals, we screened its mutations in MODY pedigrees and explored the potential pathogenic mechanisms.Methods:Polymerase chain reaction direct sequencing was performed to screen NEUROD1 mutations in 32 Chinese MODY probands who were negative for the GCK/MODY2, HNF1A/MODY3 and HNF1B/MODY5 genes in this observational study. In addition, we enrolled 201 unrelated, non-diabetic control subjects of Han Chinese descent. The functional significance of newly identified mutations was analyzed using clinical phenotype, pathophysiology and three-dimensional structure studies. This study was approved by the Institutional Review Board of Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, China (approval No. YS-2017-83) on March 3, 2017.Results:E59Q (c.175 G>C, p.Glu59Gln), a heterozygous missense mutation in the NEUROD1 gene, was identified in one family with MODY. The Glu59 residue in NeuroD1 is highly conserved across mammalian species. Four diabetic patients carrying the mutation (a proband and her son, brother and sister) were lean, with a body mass index of 20.9 (20.3-21.2) kg/m2. Compared with their unaffected relatives (n= 4), E59Q carriers (n= 4) had significantly decreased ratios of fasting and 2-hour insulin to plasma glucose (both fasting plasma insulin/fasting plasma glucose and 2-hour postprandial plasma insulin/2-hour postprandial plasma glucose, P < 0.005). The proband’s father had an E59Q mutation and normal glucose tolerance, which suggested non-penetrance. The E59Q mutation was not detected in other probands or in the 201 control subjects with normal glucose tolerance. Two salt-bridge bonds of Glu59 were disrupted at the Q59 mutation site.Conclusion:The NEUROD1-E59Q mutation changed the molecular conformation of the N-terminal in NeuroD1, which may decrease binding of the E59Q mutant to the insulin promoter and insulin gene transcription activity, therefore causing the MODY6 subtype with defective insulin secretion.

简介：摘要对2018年9月湖南省妇幼保健院就诊的1例临床表现为"全面发育迟缓8年合并特殊面容"患儿的临床特点及基因检测结果进行回顾性分析。综合患儿临床表现及其高通量测序基因检测结果确诊为典型Say-Barber-Biesecker/Young-Simpson综合征(SBBYSS)。该患儿的基因检测结果提示KAT6B基因(NM_012330.3)c.3147G>A(p.P1049P)杂合同义突变，该同义突变导致产生新的剪切位点(受体)，从而使得16号外显子5′-端127个碱基丢失，形成新的截短蛋白。这是迄今为止我国首例明确基因诊断并进行产前诊断的典型SBBYSS家系，其突变扩宽了中国人群KAT6B基因突变导致SBBYSS的突变谱，并为家系后续产前诊断提供了可靠的理论依据。

简介：摘要目的对1例Say-Barber-Biesecker-Young-Simpson综合征患儿的KAT6B基因变异进行分析，明确其可能的致病原因。方法提取患儿及双亲外周血DNA，应用全外显子基因组测序法检测相关基因变异，并通过Sanger测序法验证可疑变异，对其进行生物信息学预测。结果全外显子基因组测序结果显示患儿KAT6B基因第13外显子存在c.2623C>T (p.Asp875Tyr)错义变异，该变异既往未见报道，且为新发(de novo)变异(PS2)，在主要人群基因频率数据库中均不存在(PM2)。经PolyPhen-2、MutationTaster、PROVEAN等软件预测，均提示c.2623C>T (p.Asp875Tyr)变异为有害变异；同时经UCSF chimera及CASTp软件对编码蛋白3D结构进行建模及酶活性位点定位，发现该氨基酸的改变可影响编码蛋白原有的酶结合口袋空间大小，进而影响其与底物结合的能力，导致原有酶功能丧失(PP3)。根据美国医学遗传学与基因组学学会指南判定为可能致病变异(PS2+PM2+PP3)。结论KAT6B基因c.2623C>T(p.Asp875Tyr)变异可能为该患儿罹患Say-Barber-Biesecker-Young-Simpson综合征的原因。