Skeletal dysplasia with short,angulated femora (kyphomelic dysplasia)

We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait.     

超高效液相色谱-串联质谱法测定鸡肉和鸡蛋中5种硝基咪唑类药物残留量

目的 采用超高效液相色谱-串联质谱法（UPLC-MS/MS）,建立鸡肉和鸡蛋中5种硝基咪唑类药物的检测方法。方法 样品经乙腈提取后,加入无水Na2SO4和NaCl,离心后上清液通过PRiME HLB固相萃取小柱净化,滤出液和乙腈洗脱液经氮吹至近干,10%甲醇水（v/v）溶液定容。以0.1 %甲酸水-甲醇为流动相,被测物经BEH C18柱(2.1 mm × 100 mm,1.7 μm)分离、正离子多反应监测模式检测,内标法定量。结果 5种硝基咪唑在0.2～20.0 ng/ml范围内相关系数均大于0.999,方法检出限为0.05～0.10 μg/kg,定量限为0.15～0.30 μg/kg。在3个加标水平下（0.25、2.0和10.0 μg/kg）,鸡肉和鸡蛋的平均回收率分别为97.9%～106.0%和97.8%～110.0%,相对标准偏差（RSD）分别为0.9%～6.4%和1.0%～4.7%。结论 该方法简便、灵敏、准确,适用于鸡肉和鸡蛋中5种硝基咪唑残留量的快速检测。     

Gut Hormones in Health and Obesity: The Upcoming Role of Short Chain Fatty Acids

We are currently facing an obesity pandemic, with worldwide obesity rates having tripled since 1975. Obesity is one of the main risk factors for the development of non-communicable diseases, which are now the leading cause of death worldwide. This calls for urgent action towards understanding the underlying mechanisms behind the development of obesity as well as developing more effective treatments and interventions. Appetite is carefully regulated in humans via the interaction between the central nervous system and peripheral hormones. This involves a delicate balance in external stimuli, circulating satiating and appetite stimulating hormones, and correct functioning of neuronal signals. Any changes in this equilibrium can lead to an imbalance in energy intake versus expenditure, which often leads to overeating, and potentially weight gain resulting in overweight or obesity. Several lines of research have shown imbalances in gut hormones are found in those who are overweight or obese, which may be contributing to their condition. Therefore, this review examines the evidence for targeting gut hormones in the treatment of obesity by discussing how their dysregulation influences food intake, the potential possibility of altering the circulating levels of these hormones for treating obesity, as well as the role of short chain fatty acids and protein as novel treatments.     

Effects of Anthocyanin on Intestinal Health: A Systematic Review

Intestinal health relies on the association between the mucosal immune system, intestinal barrier and gut microbiota. Bioactive components that affect the gut microbiota composition, epithelial physical barrier and intestinal morphology were previously studied. The current systematic review evaluated evidence of anthocyanin effects and the ability to improve gut microbiota composition, their metabolites and parameters of the physical barrier; this was conducted in order to answer the question: “Does food source or extract of anthocyanin promote changes on intestinal parameters?”. The data analysis was conducted following the PRISMA guidelines with the search performed at PubMed, Cochrane and Scopus databases for experimental studies, and the risk of bias was assessed by the SYRCLE tool. Twenty-seven studies performed in animal models were included, and evaluated for limitations in heterogeneity, methodologies, absence of information regarding allocation process and investigators’ blinding. The data were analyzed, and the anthocyanin supplementation demonstrated positive effects on intestinal health. The main results identified were an increase of Bacteroidetes and a decrease of Firmicutes, an increase of short chain fatty acids production, a decrease of intestinal pH and intestinal permeability, an increase of the number of goblet cells and tight junction proteins and villi improvement in length or height. Thus, the anthocyanin supplementation has a potential effect to improve the intestinal health. PROSPERO (CRD42020204835).     

菏泽地区新生儿甲基丙二酸血症的 筛查及基因突变分析

目的 分析甲基丙二酸血症(MMA)患儿的临床表型、基因突变类型以及不同类型治疗效果,为该病的产前诊断提供科学依据。方法 利用串联质谱技术对菏泽市2015年5月-2019年12月出生的210 319名新生儿进行筛查,结合尿气相色谱质谱检测及二代测序技术,将确诊的88例患儿分为单纯型MMA患儿和MMA合并同型半胱氨酸血症,进行相应治疗,并采用配对样本t检验对患儿治疗前后进行比较分析。结果 88例MMA患儿中79例为MMA合并同型半胱氨酸血症,9例为单纯型MMA,49例患儿行基因测序,其中MUT基因突变位点13个,包括3个未报道突变:c.389G>A:1963C>T、c.2009G>T、c.1233_1235delCAT;MMACHA基因突变位点20个,包括5个未报道突变:c.481C>T、c.568dupT、c.57delT、c.471G>A、c.IVS2+149C>T。78例MMA合并同型半胱氨酸血症患儿治疗后较治疗前血中丙酰肉碱(C3)值和尿中甲基丙二酸值显著下降,差异有统计学意义(P<0.05)。结论 新生儿遗传代谢病筛查能对MMA早发现、早诊断、早治疗,并降低其死亡率和致残率。基因检测有助于MMA分型诊治,不同基因型的临床表型以及对治疗反应不同。新发突变位点,不仅丰富了我国MMA患儿基因突变谱,而且为先证者家系提供产前诊断。     

父母身高对7岁以下儿童身高影响效应的研究

目的 分析父母身高对7岁以下儿童身高的影响效应,为个体儿童生长评估提供参考依据。方法 以“2015年中国九市7岁以下儿童体格发育调查”中父母身高信息完整的161 297名儿童为分析对象,参照中国儿童身高标准计算儿童身高、父亲身高、母亲身高和父母身高中值的Z分值,采用Spearman方法分析儿童身高与父身高、母身高、父母身高中值的相关性,并按父母身高分组,比较各组儿童身高的差异。 结果 1)儿童身高与父身高、母身高和父母身高中值正相关(r=0.13~0.42,P<0.05),且与父母身高中值的相关系数最高;2)按父母身高中值分为矮身材、偏矮、中等偏下、中等偏上、较高、高身材6组,各组儿童平均身高依次递增,父母矮身材组儿童身高比父母高身材组低1.9~14.7 cm,年龄越大差值越大;3)父母身高偏矮组子女身高第3百分位(P₃)比中国儿童身高标准P₃低0.6~4.8 cm,而父母较高身材组P₃则比身高标准P₃高0.6~4.7 cm;4)父母矮身材、偏矮、中等偏下、中等偏上、较高和高身材组的儿童身高Z分值与父母身高中值Z分值差值依次为1.27±0.99、0.61±0.92、0.18±0.89、-0.19±0.90、-0.61±0.93、-1.17±0.92。结论 7岁以下儿童身高与父母身高正相关;矮身材父母的子女身高明显低于高身材父母子女;矮身材父母子女身高高于家庭遗传身高;个体儿童身高评估和解释时,不可忽视父母身高的影响作用。     

新疆四个苯丙酮尿症家系的基因诊断

目的：研究新疆苯丙酮尿症（PKU）家系苯丙氨酸羧化酶（PAH）基因突变位点及其遗传标记,探索适合新疆各民族PKU基因诊断和产前基因诊断途径。方法：联合采用PCR－STR、APSCR和PCR－SSCP3种基因诊断方法进行分析。结果：（1）PCR－STR连锁分析表明：除家系4母亲为STR纯合型外,其余家系双亲皆为杂合子,对家系1（维吾尔族）1例风险胎儿（妊娠6周,流产）进行产前基因诊断和1例新生儿（出生1d）进行症前基因诊断,均为携带者,并经出生后证实。（2）采用ASPCR法在家系1、2和3均未检出R243Q和R413P两种常见突变。（3）应用PCR－SSCP分析发现,家系2（回族）患儿为外显子7突变纯合子,家系4（汉族）患儿为外显子7和外显子11突变复合体,其外显子11突变位于第399位点（GTA→GTT）,可能为一致病突变。结论：上述3种基因诊断方法联合使用简便、快捷,适合新疆地区的基因诊断和产前基因诊断。     

河南部分人群D_(16)S_(539)、D_7S_(820)、D_(13)S_(317)基因座遗传多态性分析

目的 :了解河南地区人群中D16S539、D7S82 0 、D13S317基因座的遗传多态性 ,获得群体遗传数据。方法 :对2 30份无血缘关系个体的抗凝血样提取DNA ,应用多位点复合PCR扩增技术结合聚丙烯酰胺凝胶电泳分型方法调查D16S539、D7S82 0 、D13S317基因座在河南地区群体中的基因型分布。结果 :D16S539基因座在河南地区人群中存在 9个等位基因 ,2 8种基因型 ;D7S82 0 基因座存在 9个等位基因 ,2 9种基因型 ;D13S317存在 8个等位基因 ,31种基因型。基因型频率分布符合Hardy Weinberg平衡。结论 :D16S539、D7S82 0 、D13S317基因座是进行人类群体遗传学和法医遗传学研究十分有用的遗传标记。     

中国北方汉族、维吾尔族、哈萨克族DYS19基因座的遗传多态性

目的;研究DYS19基因座在中国北方汉族、维吾尔族、哈萨克族群体中的遗传多态性及其法医学应用。方法：应用聚合酶链反应后变性聚丙烯酰胺凝胶电泳分离扩增产物结合银染显带的方法,对101例北方汉族、56例维吾尔族、30例哈萨克族无关男性个体的DYS19基因座进行检测。结果：DYS19基因座在3个群体中共检出5种等位基因,基因频率分布范围分别为0．069－0．594,0．071－0．500,0．100－0．667;个人识别机率分别为0．600,0．675,0．491。χ^2检验表明等位基因分布具有明显的人群差异。家系调查符合单体父系遗传方式。结论：DYS19基因座个人识别机率高,属较高鉴别能力的遗传标记系统,且具有明显的人群分布差异,在法医学及人类遗传学研究中具有重要的应用价值。     

Assessment of Psychological Factors in Short-Stay Total Hip Arthroplasty Protocol

BackgroundSeveral variables are known to correlate with the successful completion of short-stay total hip arthroplasty (THA) protocols. The role of psychological factors remains unclear. We investigated the interaction between patient-reported measures of psychological fitness and successful completion of a short-stay THA protocol.MethodsWe performed a prospective cohort study of patients undergoing elective anterior total hip arthroplasty enrolled in a short-stay protocol (success defined as LOS ≤1 midnight versus failed, LOS >1 midnight). Psychological fitness was measured using the Patient-Reported Outcomes Measurement Information System (PROMIS) domains for self-efficacy, depression, anxiety, emotional support, and the ability to participate in social roles. PROMIS scores, patient demographics, and surgical factors were assessed for a relationship with failure to complete short-stay protocol.ResultsPatients that failed to complete the short-stay protocol had higher mean pre-operative PROMIS depression scores (50.8 vs 47.1, P = .025) and anxiety scores (53.6 vs 49.2, P = .008) and higher postoperative PROMIS depression (48.19 vs 43.49, P = .003) and anxiety scores (51.7 vs 47.1, P = .01). Demographic and surgical variables did not correlate with the successful completion of the short-stay protocol. That seventy-six percent of the patients did not adhere to the short-stay protocol was due to the inability to complete a physical therapy standardized safety assessment.ConclusionHigher levels of preoperative and postoperative anxiety and depression in otherwise psychologically healthy patients, is associated with an increased risk of failure to complete a short-stay protocol following THA. Targeted interventions are needed to facilitate rapid recovery in patients with psychological barriers to early mobilization.