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dominant sma

Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Glyn P Hallam, Carin Whitney, Mark Hymers, Andre D Gouws, Elizabeth Jefferies
Semantic memory comprises our knowledge of the meanings of words and objects but only some of this knowledge is relevant at any given time. Thus, semantic control processes are needed to focus retrieval on relevant information. Research on the neural basis of semantic control has strongly implicated left inferior frontal gyrus (LIFG) but recent work suggests that a wider network supports semantic control, including left posterior middle temporal gyrus (pMTG), right inferior frontal gyrus (RIFG) and pre-supplementary motor area (pre-SMA)...
September 17, 2016: Neuropsychologia
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Zhi-Dong Zhou, Wuan-Ting Saw, Eng-King Tan
The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are evolutionarily conserved nucleus-encoded small mitochondrial proteins with important functions. So far, nine members have been identified in this protein family. All CHCHD proteins have at least one functional coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by two pairs of disulfide bonds between two helices. CHCHD proteins have various important pathophysiological roles in mitochondria and other key cellular processes...
September 8, 2016: Molecular Neurobiology
Zijie Su, Tianyue Pan, Weishuai Lian, Daqiao Guo, Zhihui Dong, Weiguo Fu
A 42-year-old man had intestinal ischemia 7 weeks after endovascular abdominal aortic aneurysm repair due to sacrifice of the inferior mesenteric artery, which had compensated for the intestinal blood supply because of the total occlusion of the superior mesenteric artery (SMA) and severe stenosis of the celiac artery (CA). He was diagnosed in the active phase of Takayasu arteritis, and an emergency endovascular treatment was performed. After the SMA failed to be recanalized, a stent was successfully placed into the CA; this choice was made based on the preexisting collaterals between them...
August 2016: Vascular and Endovascular Surgery
Philipp Alexander Loehrer, Felix Sebastian Nettersheim, Fabienne Jung, Immo Weber, Carlo Huber, Till Anselm Dembek, Esther Annegret Pelzer, Gereon Rudolf Fink, Marc Tittgemeyer, Lars Timmermann
Bimanual finger coordination declines with age. However, relatively little is known about the neurophysiological alterations in the motor-system causing this decline. In the present study, we used 128-channel electroencephalography (EEG) to evaluate causal interactions of cortical, motor-related brain areas. Right-handed young and elderly subjects performed complex temporally and spatially coupled as well as temporally coupled and spatially uncoupled finger tappings. Employing dynamic causal modelling (DCM) for induced responses, we inferred task-induced effective connectivity within a core motor network comprising bilateral primary motor cortex (M1), lateral premotor cortex (lPM), supplementary motor area (SMA), and prefrontal cortex (PFC)...
September 9, 2016: NeuroImage
Simon M Purcell, Maria A Tesa-Serrate, Brooks C Marshall, Duncan W Bruce, Lucía D'Andrea, Matthew L Costen, John M Slattery, Eric J Smoll, Timothy K Minton, Kenneth G McKendrick
Two complementary approaches were used to study the liquid-vacuum interface of the liquid-crystalline ionic liquid 1-dodecyl-3-methylimidazolium tetrafluoroborate ([C12mim][BF4]) in the smectic A (SmA) and isotropic phases. O atoms with two distinct incident translational energies were scattered from the surface of [C12mim][BF4]. Angle-dependent time-of-flight distributions and OH yields, respectively, were recorded from high- and low-energy O atoms. There were no significant changes in the measurements using either approach, nor the properties derived from them, accompanying the transition from the SmA to the isotropic phase...
October 4, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
Yixin Ren, Xu Zhi, Xiaohui Zhu, Jin Huang, Ying Lian, Rong Li, Hongyan Jin, Yan Zhang, Wenxin Zhang, Yanli Nie, Yuan Wei, Zhaohui Liu, Donghong Song, Ping Liu, Jie Qiao, Liying Yan
Conventional PCR methods combined with linkage analysis based on short tandem repeats (STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been applied to preimplantation genetic diagnosis (PGD) for spinal muscular atrophy (SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wild-type embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) is a new method allowing embryo selection by a one-step next-generation sequencing (NGS) procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously...
September 20, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
Seyong Park, Fenghao Cui, Kyung Mo, Moonil Kim
In this study, we evaluated ammonia toxicity in mesophilic anaerobic digestion at various pH values and total ammonia nitrogen (TAN) concentrations. We performed anaerobic toxicity assays (ATAs) to evaluate the toxicity effects of TAN and pH on mesophilic anaerobic digestion. Modeling based on the results of the ATAs indicated that the specific methanogenic activity (SMA) decreased by 30% at a TAN concentration higher than 3.0 g/L compared to a TAN concentration of 0 g/L. In addition, the highest SMA for a given TAN level (0...
2016: Water Science and Technology: a Journal of the International Association on Water Pollution Research
Kislay Roy, Bhasker Sriramoju, Rupinder K Kanwar, Jagat R Kanwar
BACKGROUND: Alkali burn is a frequently occurring ocular injury that resembles ocular inflammation caused by eye allergies, infection, and refractive surgeries. METHODS: We investigated the synergistic regenerative potential of dominant negative survivin mutant (SurR9-C84A) and histone deacetylase (HDAC) inhibitor trichostatin-A (TSA) against alkali burn and corneal haze using human keratocytes and rabbit alkali burn model (Female New Zealand white rabbits). RESULTS: Combination of SurR9-C84A and TSA suppressed levels of transforming growth factor (TGF)-β, alpha smooth-muscle actin (α-SMA), fibronectin and HDAC1, leading to apoptosis in myofibroblast cells and, showed the potential to clear the corneal haze...
2016: Frontiers in Pharmacology
Hale Ocak, Marco Poppe, Belkız Bilgin-Eran, Gürkan Karanlık, Marko Prehm, Carsten Tschierske
A bent-core compound derived from a 4-cyanoresorcinol core unit with two terephthalate based rod-like wings and carrying chiral 3,7-dimethyloctyloxy side chains has been synthesized in racemic and enantiomerically pure form and characterized by polarizing microscopy, differential scanning calorimetry, X-ray diffraction and electro-optical investigations to study the influence of molecular chirality on the superstructural chirality and polar order in lamellar liquid crystalline phases. Herein we demonstrate that the coupling of molecular chirality with superstructural layer chirality in SmCsPF domain phases (forming energetically distinct diastereomeric pairs) can fix the tilt direction and thus stabilize synpolar order, leading to bistable ferroelectric switching in the SmC* phases of the (S)-enantiomer, whereas tristable modes determine the switching of the racemate...
September 21, 2016: Soft Matter
Luis Eudave, Maite Aznárez-Sanado, Elkin O Luis, Martín Martínez, María A Fernández-Seara, María A Pastor
Previous research on motor sequence learning (MSL) in the elderly has focused mainly on unilateral tasks, even though bilateral coordination might be impaired in this age group. In this fMRI study, 28 right-handed elderly subjects were recruited. The paradigm consisted of a Novel and a simple Control sequence executed with the right (R), left (L) and both hands (B). Behavioral performance (Accuracy[AC], Inter-tap Interval[ITI]) and associated brain activity were assessed during early learning. Behavioral performance in the Novel task was similar between unilateral conditions whereas in the bimanual condition more errors and slower motor execution were observed...
July 21, 2016: Brain Imaging and Behavior
Abigail H M Morbi, Ian M Nordon
PURPOSE: This case highlights the importance of timely diagnosis and management of acute mesenteric ischaemia and illustrates the compensatory mechanisms of the mesenteric vasculature. CASE REPORT: A 53-year-old female presented with fever, abdominal pain, and vomiting. The patient had no risk factors for atherosclerosis and was a non-smoker in sinus rhythm with no history of coagulopathy. She was initially treated for viral gastroenteritis. Due to lack of clinical improvement and a rising C-Reactive Protein (416), a CT scan was performed...
June 21, 2016: Acta Chirurgica Belgica
M Lotze, M Domin, B Kordass
OBJECTIVE: Functional magnetic resonance imaging (fMRI) is one of the most advanced techniques to analyze the cerebral effects on many behavior aspects of the oral system such as chewing and mastication. Studies on imaging of the cerebral representation of chewing demonstrated differential results with respect to cortical lateralization during unilateral chewing. The aim of our study is to clarify the effects of cerebral responses during unilateral chewing. MATERIAL AND METHODS: We used fMRI to compare brain activities during occlusal function in centric occlusion on natural teeth and chewing on a gum located on the right or the left teeth in 15 healthy subjects...
May 24, 2016: Clinical Oral Investigations
Can-Can Zhou, Xi Yang, Xia Hua, Jian Liu, Mao-Bing Fan, Guo-Qiang Li, Jie Song, Tian-Ying Xu, Zhi-Yong Li, Yun-Feng Guan, Pei Wang, Chao-Yu Miao
BACKGROUND AND PURPOSE: Ageing is an important risk factor of non-alcoholic fatty liver disease (NAFLD). Here, we investigated whether the deficiency of nicotinamide adenine dinucleotide (NAD(+) ), a ubiquitous coenzyme, links ageing with NAFLD. EXPERIMENTAL APPROACH: Hepatic concentrations of NAD(+) , protein levels of nicotinamide phosphoribosyltransferase (NAMPT) and several other critical enzymes regulating NAD(+) biosynthesis, were compared in middle-aged and aged mice or patients...
August 2016: British Journal of Pharmacology
Ji Hye Yang, Sang Chan Kim, Kyu Min Kim, Chang Ho Jang, Sam Seok Cho, Seung Jung Kim, Sae Kwang Ku, Il Je Cho, Sung Hwan Ki
Hepatic fibrosis is considered integral to the progression of chronic liver diseases, leading to the development of cirrhosis and hepatocellular carcinoma. Activation of hepatic stellate cells (HSCs) is the dominant event in hepatic fibrogenesis. We investigated the ability of isorhamnetin, the 3'-O-methylated metabolite of quercetin, to protect against hepatic fibrosis in vitro and in vivo. Isorhamnetin inhibited transforming growth factor (TGF)-β1-induced expression of α-smooth muscle actin (α-SMA), plasminogen activator inhibitor-1 (PAI-1), and collagen in primary murine HSCs and LX-2 cells...
July 15, 2016: European Journal of Pharmacology
Peter Manza, Sien Hu, Herta H Chao, Sheng Zhang, Hoi-Chung Leung, Chiang-Shan R Li
Response inhibition and salience detection are among the most studied psychological constructs of cognitive control. Despite a growing body of work, how inhibition and salience processing interact and engage regional brain activations remains unclear. Here, we examined this issue in a stop signal task (SST), where a prepotent response needs to be inhibited to allow an alternative, less dominant response. Sixteen adult individuals performed two versions of the SST each with 25% (SST25) and 75% (SST75) of stop trials...
July 1, 2016: NeuroImage
Ming Liu, Xiansheng Zeng, Junli Wang, Zhiping Fu, Jinsong Wang, Muyun Liu, Dunqiang Ren, Baodan Yu, Lixia Zheng, Xiang Hu, Wei Shi, Jun Xu
BACKGROUND: Interstitial pneumonia in connective tissue diseases (CTD-IP) featuring inflammation and fibrosis is a leading cause of death in CTD-IP patients. The related autoimmune lung injury and disturbed self-healing process make conventional anti-inflammatory drugs ineffective. Equipped with unique immunoregulatory and regenerative properties, mesenchymal stem cells (MSCs) may represent a promising therapeutic agent in CTD-IP. In this study, we aim to define the immunopathology involved in pulmonary exacerbation during autoimmunity and to determine the potential of MSCs in correcting these disorders...
2016: Stem Cell Research & Therapy
Talitha I Verhoef, Melissa Hill, Suzanne Drury, Sarah Mason, Lucy Jenkins, Stephen Morris, Lyn S Chitty
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice. METHOD: Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders. RESULTS: For autosomal dominant conditions, where NIPD molecular techniques are straightforward, NIPD cost £314 less than invasive testing...
July 2016: Prenatal Diagnosis
Nicholas E Johnson
The current issue of Neurology® Genetics emphasizes the unparalleled role of next-generation sequencing (NGS) in defining an expanding spectrum of genetic neurologic disorders. Clinically, NGS encompasses the use of large gene panels, whole-exome sequencing (WES), or whole-genome sequencing (WGS). The impact of NGS technology is twofold. First, researchers have discovered novel genes as the cause of neurologic disorders. This research includes the efforts of Martikainen et al.(1) to define further the phenotype of a previously reported SNCA mutation that is associated with autosomal dominant Parkinson disease...
December 2015: Neurology. Genetics
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