RESUMO
Essential tremor (ET) may present with head tremor (HT), of presumed cerebellar nature. Deep brain stimulation (DBS) targeting the ventral intermediate (Vim) nucleus of the thalamus is a highly effective therapy for medication-refractory ET. However, stimulation-related side effects may include cerebellar abnormalities, such as postural instability. This retrospective cohort study evaluated the risk of post-Vim DBS postural instability (primary outcome measure) in patients with versus without head tremor (HT vs. nHT). The primary outcome measure, namely post-DBS postural instability, was assessed in both groups using a Wilcoxon rank sum t-test. The time to postural instability was determined using Cox proportional hazards regression analysis adjusted for age and sex. Out of 30 patients analyzed during the follow up period, there was similar postural instability detected in HT (9/14, 64%) and nHT patients (11/16, 69%) at 24 months post-Vim DBS (p=0.82), adjusted hazard ratio[aHR]=0.82, p=0.69). These data suggest that the presence or absence of HT does not have an impact on postural instability after bilateral Vim DBS in patients with ET.
Assuntos
Estimulação Encefálica Profunda , Tremor Essencial , Humanos , Tremor/etiologia , Tremor Essencial/terapia , Estudos Retrospectivos , Estimulação Encefálica Profunda/efeitos adversos , Tálamo , Núcleos Ventrais do Tálamo , Resultado do TratamentoRESUMO
Objective: To describe a family with primary familial brain calcifications (PFBCs) and leukoencephalopathy associated with a novel variant in PDGFB. Methods: We present 3 generations of a family with PFBC associated with a previously unreported variant in PDGFB. Results: A 24-year-old woman with migraine, bipolar disorder, and functional neurologic disorder was found to have bilateral calcifications of the basal ganglia and frontally predominant periventricular white matter disease. Her father had mild cognitive impairment and action tremor of the hands with basal ganglia and cerebellar calcifications found incidentally on head CT. Her paternal grandmother had severe parkinsonism and dementia with calcifications of the basal ganglia and cerebellum and diffuse, confluent periventricular white matter disease. Genetic testing in both the proband and her father revealed a PDGFB variant (NM_002608.3:c.298C>T:p.Arg100Cys) not reported in publicly available databases. Multiple in silico analysis tools support pathogenicity. Discussion: Our report identifies a novel PDGFB variant associated with PFBC and highlights the rare association of leukoencephalopathy with PDGFB-associated PFBC.
RESUMO
Jinan is a famous spring city in China. Construction of underground metro system may block groundwater seepage, inducing the depletion risk of springs. This paper presents an assessment of the risk due to metro line construction to groundwater in Jinan City using Analytic Hierarchy Process (AHP) and Geographic International System (GIS). Based on the characteristics of hydrogeology and engineering geology, the assessment model is established from the perspectives of surface index and underground index. The assessment results show that the high and very high risk levels of surface index exceed 98% in the north region; and high and very high risk levels of underground index exceed 56% in urban center and southern region. The assessment result also shows that about 14% of the urban area belongs to very high risk level; regions of high risk are 20% in urban area, 9% in Changqing County and 43% in Pingyin County. In the high risk region, metro lines R1 to R3, which are under construction, and metro lines L1 to L5, which are planned, have very high and high risk. Therefore, risk control measures are proposed to protect the groundwater seepage path to spring.
Assuntos
Indústria da Construção , Monitoramento Ambiental , Nascentes Naturais/análise , Ferrovias , China , Cidades , RiscoRESUMO
Neuromuscular ultrasound is an emerging technology for the evaluation of conditions affecting nerve and muscle, with most of the research focusing on focal neuropathies. Despite this focus, researchers have also investigated the ultrasonographic changes that occur in the nerves and muscles of those with more diffuse polyneuropathies and motor neuron diseases, and this review will detail the findings in these conditions. Specific findings are discussed in this article, but general themes will also be presented and include the following: hereditary polyneuropathies show diffuse nerve enlargement, whereas immune-mediated polyneuropathies show more patchy involvement; nerve enlargement is more profound in demyelinating than axonal polyneuropathies; and muscle changes in motor neuron diseases include heterogeneous increases in echogenicity, atrophy, readily detectable fasciculations, and increased subcutaneous tissue thickness.
Assuntos
Polineuropatias/diagnóstico por imagem , Ultrassonografia/métodos , Humanos , Doença dos Neurônios Motores/diagnóstico por imagem , Doença dos Neurônios Motores/patologia , Polineuropatias/patologiaRESUMO
Ternary clay-based composite material (TCC), composed of lime, clay and sand, and usually modified with sticky rice and other organic compounds as additives, was widely used historically in Chinese construction and buildings due to its high mechanical performance. In this study, to gain an insight into the micromechanical mechanism of this cementitious material, the nanomechanical properties and volume fraction of mechanically different phases of the binder matrix are derived from the analysis of grid nanoindentation tests. Results show that there are five distinct mechanical phases, where the calcium silicate hydrate (C-S-H) and geopolymer present in the binder matrix are almost identical to those produced in ordinary Portland cement (OPC) and alkali-activated fly-ash geopolymer materials in nano-mechanical performance. The nano-mechanical behavior of calcite produced by the carbonation of lime in this binder is close to the calcite porous outer part of some sea urchin shells. Compared to OPC, the C-S-H contained in the TCC has a relatively lower ratio of indentation modulus to indentation hardness, implying a relatively lower resistance to material fracture. However, the geopolymer and calcite, at nearly the same volume content as the C-S-H, help to enhance the strength and durability of the TCC by their higher energy resistance capacity or higher strength compared to the C-S-H. Rediscovering of TCC offers a potential way to improve modern concrete's strength and durability through synergy of multi-binders and the addition of organic materials if TCC can be advanced in terms of its workability and hardening rate.