Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

Using exome sequencing we identify a homozygous splice site mutation in the PIGN gene in a foetus with multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, and oligodactyly. This finding expands the phenotypic spectrum associated with homozygous loss of function mutations in PIGN, and adds further support for defective GPI anchor biosynthesis as a cause of developmental abnormalities. We demonstrate that exome sequencing is a valuable approach for the identification of a genetic cause in sporadic cases of multiple congenital anomalies (MCA) due to inherited mutations.     

Diaphragmatic hernia a rare cause of acute pancreatitis: Case report

Many complications are known to occur in association with a diaphragmatic hernia. Acute pancreatitis occurring in this situation is very rare. In this paper, we report a case and describe the radiographic features of this complication. We report an unusual case of acute pancreatitis complicating a neglected post-traumatic diaphragmatic hernia in a 30-year-old male. This patient had a history of an abdominal trauma 5 years ago, and arrived at the emergency room with epigastria and left chest pain and vomiting. Serum lipase was elevated. Acute pancreatitis could be considered as an exceptional complication of diaphragmatic hernia. It is a serious diagnostic and therapeutic challenge. The fundamental roles of CT are to determine the diaphragmatic defect, the abdominal content involving, the Balthazar scoring of pancreatitis, and the presence of local complications. Even if a conservative approach is preferred when facing a diagnosis of pancreatitis, timing of surgery should be carefully considered.     

上臂表面肌电信号与肘关节角度的相关性研究

目的 根据检测的上臂肱二头肌和肱三头肌表面肌电信号,研究表面肌电信号和肘关节角度之间的相关性.方法 在手握恒定目标力量时提取表面肌电信号,并分别从时域采用均方根和积分肌电值方法提取肌电信号的特征值.结果 实验结果表明肱二头肌和肱三头肌上的肌电信号幅度的均方根和积分肌电值的变化规律是不同的,前者的肌电信号幅度的均方根和积分肌电值都是随着肘关节角度的增加而增大,而后者的2种值都在肘关节弯曲90°时最大,在45°和135°时的值非常接近.结论 肱二头肌和肱三头肌的表面肌电信号,可以反映肘关节角度.     

Immunohistochemical and electron microscopical studies of myocardial inclusions in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle

In hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle, the largest number of acidophilic intracytoplasmic inclusions was found in the myocardium. These inclusions, which were oval and measured 12–15 μm in the transverse sections, were characterized by a dense, amorphous zone, and a relatively hyalinized sarcous substance in paraffin-embedded hematoxylin and eosin (H & E)-stained sections. Histochemically, each inclusion was stained intense red and dark green with H & E and Gomori’s trichrome, respectively. NADH-TR activity was absent. The region surrounding the inclusions was less acidophilic with H & E, and showed an increased activity with NADH-TR. The inclusions showed no immunoreactivity for desmin, vimentin, actin or α-actinin, while strong desmin immunoreactivity was observed in the region surrounding the inclusion. Some inclusions showed strong immunoreactivity for ubiquitin, but others reacted only faintly. Ultrastructurally, the inclusion had a dense core composed of myofibrillar aggregations. The periphery of this dense core was surrounded by thin or intermediate-sized filaments, which corresponded to the desmin-positive area. This alteration was sometimes found to be continuous with the Z disk, which showed streaming or disintegration or with the desmosome of the intercalated disk. We discuss here the similarity between this specific inclusion and the other alternative organelles that have been reported previously in cardiomyopathy or in cardiac lesions accociated with various myopathies. Received: 27 April 1998 / Revised, accepted: 10 August 1998     

肌电图和运动神经传导速度检查诊断周围神经损伤

对136例周围神经损伤患者进行肌电图(EMG)与运动神经传导速度(MCV)分析。损伤神经支配的168块肌肉,EMG均为神经原性损害。166条受损神经MCV均有不同程度的减慢或缺失,其中周围神经完全断伤29.52％,严重损伤21.69％,中度损伤21.08％,轻度损伤27.71％。本文认为对周围神经损伤的定位和损伤程度的判断EMG和MCV是可靠和有效的方法。     

肌电控制康复机器人协助的脑卒中患者肘关节康复训练的多参数评价

摘要 目的：探索在肌电控制机器人协助的脑卒中偏瘫患者肘关节康复训练中,有关肘关节电生理﹑动力学﹑运动学等多项参数的变化情况,并为脑卒中评估提供更加全面的定量评估方法。 方法：本研究募集了8例偏瘫患者,对其分别进行了20次肌电控制机器人辅助的肘关节康复训练,在实验过程中记录了肱二头肌与肱三头肌的肌电信号,肘关节力矩信号和角度信号。 结果：训练后Fugl-Meyer上肢功能评测值显著大于训练前（P<0.05）,Ashworth量表值显著小于训练前（P<0.05）;在最大自主等长收缩（MVC）实验中,肘关节屈曲与伸展的MVC力矩显著大于训练前（P<0.01）;三头肌的力矩-肌电比显著大于训练前（P<0.05）;在无辅助跟踪运动中肘关节运动角度和目标角度均方根误差（RMSE）显著小于训练前（P<0.05）。 结论：肌电控制康复机器人肘关节康复训练从关节力矩、肌肉效率、运动精度等多个方面改善偏瘫患者的运动功能。以上参数从多角度定量反映了偏瘫患者运动功能状态,具有应用于临床运动功能评估的潜在价值。     

Response Entropy Is More Reactive Than Bispectral Index During Laparoscopic Gastric Banding

Objective. There is a potential use for spectral entropy or bispectral index (BIS) for controlling level of anesthesia, but it is not known how these EEG monitors relate during steady state anesthesia. We compared Response Entropy (RE) and BIS during anesthesia for laparoscopic gastric banding with RE targeted to 45. Methods. Forty patients undergoing laparoscopic gastric banding were randomly assigned to receive either fentanyl or dexmedetomidine infusion, with desflurane concentration adjusted to maintain RE at 45. During anesthesia the average RE and BIS was determined in each patient and the RE-BIS difference plotted as a function of RE every 10 seconds. Fifteen of 40 patients showed activation of RE above 60 during surgery. In these patients RE, BIS and the electromyogram (EMG) were evaluated for the period 10 minutes before and including the peak change in RE. Results. In fentanyl and dexmedetomidine treated patients the average RE was 44–47 with no statistical difference between anesthesia groups or between RE and BIS. In each patient there was a linear relationship between the RE-BIS difference and RE during anesthesia. RE and BIS were similar at a level of 41–44 and RE showed a greater range at higher and lower values compared to BIS. When RE activation was identified during surgery in 15 patients, it was associated with an increase in BIS and EMG. Conclusion. Within the range of 41–44, RE and BIS are equal but the gain of RE is 0.5 greater than BIS with deeper or lighter anesthesia. This is not likely due to increased smoothing with BIS. Identifying periods of RE activation show that BIS, EMG and RE increase together.Feld J, Hoffman WE Park H. Response entropy is more reactive than bispectral index during laparoscopic gastric banding.     

鞍隔孔区解剖学研究及其临床意义

目的 通过鞍隔孔区结构的解剖学研究,分析经蝶入路脑脊液漏的发生机制,以及空蝶鞍(ES)的形成原因. 方法 对8例胎儿标本进行组织学连续切片后,做HE和Masson染色,并在显微镜下对鞍隔孔附近结构进行观察;另取10例成人尸头标本,模拟经蝶入路手术,并在手术显微镜下观察鞍隔孔区解剖结构. 结果 鞍上蛛网膜在垂体柄上端和其表面的软脑膜紧密结合,并转折进入鞍内;同时在垂体上表面处,鞍隔从四周紧密包绕并和表面的软脑膜紧密结合,而难以从组织学切片上分辨二者的界限:鞍上蛛网膜池由于蛛网膜、软脑膜和鞍隔的束缚而终止于鞍隔孔上部. 结论 鞍隔、软脑膜和鞍上蛛网膜三者之间存在着严密的解剖学关系,其也是防止脑脊液漏和ES发生的关键因素.这三者的先天性缺损、生理性或者病理性破坏,尤其是在经蝶入路中对垂体腺瘤的过分牵拉,导致鞍上蛛网膜和软脑膜分离或者破裂,可能是造成术中脑脊液漏发生的重要原因;另外鞍隔、软脑膜和垂体上表面之间的分离也可能是造成ES的关键因素.