Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome

Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS. More hyporeactivity symptoms and less hyperreactivity and sensory seeking behaviour are seen, particularly in the auditory domain. Hypersensitivity to touch, possible overheating or turning red easily and reduced pain response are often seen.In this paper the current literature on sensory functioning in PMS is reviewed and recommendations for caregivers, based on consensus within the European PMS consortium, are given.     

多囊卵巢综合征女性性功能现状及性功能障碍的危险因素调查分析

目的:调查多囊卵巢综合征(polycystic ovary syndrome,PCOS)患者的性功能现状,探讨PCOS女性性功能障碍(female sexual dysfunction,FSD)的危险因素.方法:采用横断面研究方法,对首都医科大学附属北京妇产医院(我院)内分泌科2019年1—12月就诊的PCOS患者使用...     

内源性一氧化氮合酶抑制物在糖尿病大鼠勃起功能障碍中的作用

目的:探讨内源性一氧化氮合酶(NOS)抑制物非对称性二甲基精氨酸(ADMA)在糖尿病大鼠勃起功能障碍中的作用及其机制。方法:采用高脂饲养加小剂量链脲佐菌素腹腔注射诱导8周病程的2型糖尿病大鼠模型;麻醉下分离大鼠阴茎海绵体,用器官浴槽方法检测海绵体对乙酰胆碱的内皮依赖性舒张反应以反映其勃起功能;检测血清ADMA含量;检测海绵体组织NOS活性及一氧化氮(NO)和环磷酸鸟苷(c GMP)含量;用Western blot检测海绵体ADMA信号通路蛋白和磷酸二酯酶5(PDE5)的表达;检测超氧化物歧化酶活性和脂质过氧化产物丙二醛含量以评价氧化应激。结果:糖尿病大鼠血糖升高,胰岛素敏感性降低,表明糖尿病大鼠模型建立成功;与正常对照组比较,糖尿病大鼠海绵体舒张功能明显降低,血清ADMA浓度升高,海绵体组织NOS活性及NO和c GMP含量降低,ADMA生成酶蛋白精氨酸甲基转移酶1表达上调,ADMA代谢酶二甲基精氨酸二甲胺水解酶1、2及ADMA靶酶内皮型NOS和神经元型NOS表达下调,PDE5蛋白表达上调,氧化应激增加;体外用ADMA孵育正常大鼠离体海绵体,亦可产生与糖尿病大鼠海绵体相似的舒张功能障碍及NO和c GMP含量减少。结论:内源性NOS抑制物ADMA蓄积是导致糖尿病大鼠勃起功能障碍的重要原因,其机制可能与减少NO生成、增加氧化应激有关。     

Short‐interval leg movements during sleep entail greater cardiac activation than periodic leg movements during sleep in restless legs syndrome patients

Periodic leg movements during sleep (PLMS) are sequences of ≥4 motor events with intermovement intervals (IMI) of 10–90 s. PLMS are a supportive diagnostic criterion for restless legs syndrome (RLS) and entail cardiac activation, particularly when associated with arousal. RLS patients also over‐express short‐interval leg movements during sleep (SILMS), which have IMI <10 s and are organized mainly in sequences of two movements (doublets). We tested whether the cardiac activation associated with SILMS doublets differs from that associated with PLMS in a sample of 25 RLS patients. We analysed time–series of R–R intervals synchronized to the onset of SILMS doublets or PLMS that entailed an arousal during non‐rapid eye movement (NREM) sleep. We assessed cardiac activation based on the R–R interval decrease with respect to baseline during NREM sleep without leg movements. We found that the duration of the R–R interval decrease with SILMS doublets was significantly longer than that with PLMS, whereas the maximal decrease in R–R interval was similar. Scoring SILMS in RLS patients may therefore be relevant from a cardiac autonomic perspective.     

CT肺功能指标判断评价石棉肺患者呼吸功能的研究

目的 采用多层螺旋CT肺功能成像技术评价石棉肺患者的呼吸功能障碍程度和肺功能指标的改变及特点.方法 61例石棉肺患者与30名健康者根据用力肺活量和第1秒用力肺活量分为肺呼吸功能正常组、轻度损伤组、中重度损伤组.对每个受检者分别在深吸气末和深呼气末屏住气行全肺扫描,对肺容积、肺密度、小气道指标进行测定.结果 肺呼吸功能正常组、轻度损伤组、中重度损伤组的各项肺容积指标(吸气与呼气末肺容积、容积差、容积比)差异具有统计学意义(均P＜0.05);各项平均肺密度指标(吸气与呼气末平均肺密度、肺密度差、肺密度比)差异具有统计学意义(均P＜0.05);各项小气道指标(吸气与呼气末壁厚直径比率、支气管壁面积率)差异具有统计学意义(均P＜0.05).结论 CT肺功能成像技术可以用来评价石棉肺患者的呼吸功能障碍程度.随着石棉肺患者肺呼吸功能障碍的发展,其肺总量降低,双肺的残气量逐渐增多,肺气肿逐渐加重,小气道壁和肺泡隔纤维性肥厚逐渐增厚.     

一氧化氮生物利用度失调与动脉粥样硬化

内皮功能障碍与动脉粥样硬化(AS)密切相关。氧化应激、脂质浸润、炎性反应因子表达及血管张力改变等涉及一氧化氮(NO)生物利用度(内源性NO的生成和利用)的降低,在内皮功能障碍中发挥重要作用。精氨酸酶活性增强、非对称性二甲基精氨酸和同型半胱氨酸增加均能使NO生物利用度下降,促进AS发生发展。糖尿病、肥胖、慢性肾病和吸烟等通过多种方式影响NO生物利用度,参与AS的发生。     

Biophysical and histological determinants underlying natural firing behaviors of splanchnic sympathetic preganglionic neurons in neonatal rats

Isolated thoracic spinal cords of neonatal rats spontaneously generate splanchnic sympathetic nerve discharge (SND) with a quasiperiodic rhythm 1-Hz. Using in vitro nerve-cord preparations that retained T6–T12 spinal segments, we investigated whether the natural firing behavior of sympathetic preganglionic neurons (SPNs) encoded the SND rhythm and what were the main biophysical and histological determinants of SPN firing. Under extracellular recording conditions, electrical stimulation of splanchnic nerves elicited antidromic responses in 212 SPNs. Among them, 92 SPNs were quiescent; 120 active SPNs had an average firing rate of 0.72±0.04 Hz, which was close to the quasiperiodic rhythm of SND. SPNs with rhythmic burst firing were rare. Probability plots of interspike intervals were constructed to extract mathematical features underlying SPN firing. Most active SPNs (88%) had a firing well described by unimodal Gaussian, suggesting a predominantly tonic pattern with normal variations. Biophysical properties of 112 SPNs were measured under whole-cell recording conditions. The charging time constant, τ, is positively correlated with the average firing rate. Histological properties were examined in 45 SPNs with intracellular diffusion of Lucifer Yellow or biocytin. SPNs with pyramidal somata and multipolar dendrites tend to be spontaneously active. In contrast, those with bipolar somata and fewer dendritic branches were quiescent in firing. These observations suggest that activity levels of SPNs are correlated with their capacity for temporal and spatial summation of synaptic inputs. How the seemingly tonic firing of individual SPNs is integrated into whole-nerve SND with quasiperiodic rhythms is discussed.     

大鼠体神经-内脏神经吻合后脑源性神经营养因子及其受体的表达变化

为了研究大鼠体神经-内脏神经吻合后脑源性神经营养因子(BDNF)及其受体酪氨酸激酶B(TrkB)在脊髓前角神经元中的表达变化,以正常大鼠为对照,运用RT-PCR技术检测大鼠体神经-内脏神经吻合术后不同时间脊髓腰4(L4)前角神经元中BDNF及TrkB mRNA的表达变化。结果显示,在正常大鼠L4前角神经元中,BDNF及TrkB的mRNA均存在一定水平的表达;体神经-内脏神经吻合术后7d、14d、1m和2m,BDNF和TrkBm RNA的表达均升高,术后7d达到高峰,14d开始下降;2m时BD-NF mRNA的表达量仍显著高于正常组(P<0.01),而TrkB mRNA的表达量到2m时虽仍高,但与正常组相比,其差异已无统计学意义(P>0.05)。上述结果表明,大鼠体神经-内脏神经反射弧建立后,脊髓L4前角神经元的内源性BDNF及其受体TrkB的表达均增高,它们可能作为保护性因子有利于受损神经元的存活和再生。