关键词： 神经解剖学   神经外科学   神经生理学   神经病学   西北大学   医学院院长   军医大学   神经学  

摘要： 由耶鲁大学神经学、神经生理学及神经外科学教授哈尔·布鲁门菲尔德(Hal Blumenfeld)编著,空军军医大学人体解剖与组织胚胎学教研室暨梁銶琚脑研究中心主任李云庆教授,西北大学医学院院长、西北大学神经病学系主任、西北大学脑科学研究中心主任赵钢教授,复旦大学附属中山医院党委书记。

关键词： Abbreviations: IE   inflammatory encephalomyelopathy   TM   transverse myelitis   NOM   neuromyelitis optica   NMO-SD   neuromyelitis optica spectrum disorders   ADEM   acute disseminated encephalomyelitis   LUTS   lower urinary tract symptoms   PVR   post-void residual   VUD   video-urodynamics   BC   bladder compliance   VUR   vesicoureteric reflux   CIC   clean intermittent catheterization   DO   detrusor overactivity   DU   detrusor underactivity   URI   ureter re-implantation   UUT   upper urinary tract   UI   urinary incontinence  

摘要： OBJECTIVE To report the clinical data in a large population of patients affected by inflammatory encephalomyelopathy. MATERIAL AND METHODS We retrospectively reviewed the medical history, imaging studies and urodynamic findings in a series of 87 consecutive patients with inflammatory encephalomyelopathy. Age at disease onset ranged from 3 to 76 years with an average of 35.4 years. The type of bladder dysfunction, neurological impairment and spinal magnetic resonance imaging were assessed. Upper urinary tract was evaluated. The urological complications and subsequent management were reported. RESULTS The mean follow-up was 3.0 years (range from 0.5 to 6.6 yrs). Initial evaluation revealed detrusor overactivity in 53 patients (61.1%), detrusor underactivity in 34 patients (39.1%), detrusor leak point pressure greater than 40 cm water and decreased compliance in 29.9% of patients. At the latest follow-up, a total of 64 patients (73.6%) had persistent bladder dysfunction requiring treatment, mainly presenting as urinary incontinence and incomplete bladder emptying. Around 18.8% patients (13/69) experienced upper urinary tract changes. The location of spinal lesions may correspond with the type of bladder dysfunction. Higher abnormal sensory levels are associated with poor bladder recovery. CONCLUSION Persistent bladder dysfunction is common in inflammatory encephalomyelopathy and tend to change with the progression of disease. Evaluation must be instituted at early onset of the disease and ongoing surveillance should be offered through the entire disease process. Management can be tailored individually to the urodynamic findings for optimal preservation of bladder and renal function. (C) 2021 Elsevier Inc.

关键词： Biomedicine   general   Human Genetics   Laboratory Medicine  

摘要： Purpose CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype. Methods We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who present with predominantly neurological manifestations. Results Fourteen individuals have de novo, nontruncating variants and present variably with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy. Functional studies of a subgroup of missense variants via patch clamp experiments demonstrated differential effects on channel function in vitro, including loss of function (***1408Val), neutral effect (***614Arg), and gain of function (***657Phe, ***614Pro). The remaining 11 individuals from eight families have truncating variants in CACNA1C. The majority of these individuals have expressive language deficits, and half have autism. Conclusion We expand the phenotype associated with CACNA1C variants to include neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or long QT syndrome.

关键词： Lafora disease   Laforin   Progressive myoclonus epilepsy  

关键词： flexional distance index   OPLL   cervical laminoplasty   middle-term result   JOA score  

摘要： Objective: We aimed to investigate whether K-line in the neck flexion (FK-line), flexion angle (FA), or flexion distance index (FDI) could predict the recovery rate of the Japanese Orthopedic Association score (RR-JOA) at 4 years after cervical laminoplasty (LP) for ossification of the posterior longitudinal ligament (OPLL). Methods: A new index, i.e., the FDI, which is based on the degree of neck flexion and the OPLL size on a lateral radiograph. "Flexional distance" is the distance from C2 to C7 in neck flexion, and "distance to OPLL" is the maximal distance from the line of the flexional distance to OPLL. FDI was defined as follows: FDI = flexional distance/distance to OPLL. Twenty-three patients with K-line (+) OPLL were evaluated at 4 years after LP (follow-up rate, 92%). We investigated the relationships between preoperative radiological factors, including FK-line, FA, and FDI, and RR-JOA at 4 years postoperatively. Results: Preoperative FK-line and FA were significantly related with the RR-JOA at 1 year postoperatively, but not at 4 years postoperatively. Preoperative FDI was significantly positively correlated with the RR-JOA at 1 year and 4 years postoperatively (P = 0.0132, r = 0.504 and P = 0.0183, r = 0.484, respectively). Preoperative FDI < 2.5 was associated with worsening of the RR-JOA at 4 years postoperatively, with a probability of 80% Discussions: FDI could predict the RR-JOA at 4 years after LP for OPLL. Decompression with fusion may be recommended for patients with preoperative FDI < 2.5.

关键词： Factitious disorders   Malingering   Functional neurological symptoms disorder   Hysteria   Munchausen's syndrome  

摘要： Factitious disorder is classified as one of the five aspects of somatic symptom disorders. The fundamental element of factitious disorder is deception, i.e., pretending to have a medical or psychiatric disorder, but the enactment of deception is considered unconscious. Indeed, volition, i.e., the perception of deliberate deception, is blurred in patients presenting with factitious disorder. In the USA and the UK, factitious disorder has received constant media attention because of its forensic implications and outrageous costs for the National Health Systems. Unfortunately, a comparable level of attention is not present in Italian National Health System or the Italian mass media. The review analyzes the classifications, disorder mechanisms, costs, and medico-legal implications in the hope of raising awareness on this disturbing issue. Moreover, the review depicts 13 exemplification cases, anonymized and fictionalized by expert writers. Finally, our paper also evaluates the National Health System's expenditures for each patient, outlandish costs in the range between 50,000 and 1 million euros.

关键词： CALHM2   CALHM5   Channel   ATP   Gap junction  

摘要： Recently calcium homeostasis modulators (CALHMs) are identified as ATP release channels play crucial role in functioning of neurons including gustatory signaling and neuronal excitability. Pathologies of Alzheimer's disease and depression have been associated with the dysfunction of CALHMs. Recently, CALHMs has been emerged as an important therapeutic research particularly in neurobiological studies. CALHM1 is most extensively studied among CALHMs and is an ATP and ion channel that is activated by membrane depolarization or removal of extracellular Ca2+. Despite the emerged role of CALHM5 shown by an recently assembled data;however, the neuronal function remains obscure until the first Cryo-EM structure of CALHM5 was recently solved by various research group which acts as a template to study the hidden functional properties of the CALHM5 protein based on structure function mechanism. It provides insight in some of the different pathophysiological roles. CALHM5 structure showed an abnormally large pore channel structure assembled as an undecamer with four transmembrane helices (TM1-TM4), an N-terminal helix (NTH), an extracellular loop region and an intracellular C-terminal domain (CTD) that consists of three alpha-helices CH1-3. The TM1 and NTH were always poorly defined among all CALHMs;however, these regions were well defined in CALHM5 channel structure. In this context, this review will provide insight in structure, function and mechanism to understand its significant role in pathological diseases particularly in Alzheimer's disease. Moreover, it focuses on CALHM5 structure and recent associated properties based on Cryo-EM research. [GRAPHICS] .