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Adult onset type II

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https://www.readbyqxmd.com/read/28567000/exosomes-from-nsc-34-cells-transfected-with-hsod1-g93a-are-enriched-in-mir-124-and-drive-alterations-in-microglia-phenotype
#1
Sara Pinto, Carolina Cunha, Marta Barbosa, Ana R Vaz, Dora Brites
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disorder affecting motor neurons (MNs). Evidences indicate that ALS is a non-cell autonomous disease in which glial cells participate in both disease onset and progression. Exosomal transfer of mutant copper-zinc superoxide dismutase 1 (mSOD1) from cell-to-cell was suggested to contribute to disease dissemination. Data from our group and others showed that exosomes from activated cells contain inflammatory-related microRNAs (inflamma-miRNAs) that recapitulate the donor cell...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28509312/histological-immunohistochemical-and-ultrastructural-study-of-secondary-compressed-spinal-cord-injury-in-a-rat-model
#2
Wafaa S Ramadan, Ghada A Abdel-Hamid, Saleh Al-Karim, Aymn T Abbas
INTRODUCTION: Spinal cord injury (SCI) is a life-disrupting condition in which the first few days are the most critical. Secondary conditions remain the main causes of death for people with SCI. The response of different cell types to SCI and their role at different times in the progression of secondary degeneration are not well understood. The aim of this study was to study the histopathological changes of compressed spinal cord injury (CSCI) in a rat model. MATERIAL AND METHODS: Forty adult male Sprague-Dawley rats were divided into four groups...
2017: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28450688/a-case-of-55-year-old-man-with-first-ever-generalized-seizure-diagnosed-with-sturge-weber-syndrome-type-iii-by-characteristic-mri-findings
#3
Hidehiro Ishikawa, Yuichiro Ii, Atsushi Niwa, Keita Matsuura, Masayuki Maeda, Hidekazu Tomimoto
A 55-year-old man with no mental retardation had presented a history of frequent transient clumsiness of his right upper and lower extremities for about 20 years. He was admitted to a general hospital with weakness of right side of the body, and first-ever generalized seizure attack occurred the next day. Brain CT showed calcification in the left cerebral cortices. So he was referred to our hospital. On neurological examination, he had mild clumsiness of his right upper limb and right pyramidal tract sign. He had neither facial port-wine stain nor glaucoma...
April 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28410464/surgical-outcomes-in-two-different-age-groups-with-focal-cortical-dysplasia-type-ii-any-real-difference
#4
Jorge Luis Ramírez-Molina, Roberta Di Giacomo, Valeria Mariani, Francesco Deleo, Francesco Cardinale, Angélica María Uscátegui-Daccarett, Pablo Lorenzana, Laura Tassi
OBJECTIVE: Focal Cortical Dysplasias (FCDs) represent a common architectural cortical disorder underlying drug-resistant focal epilepsy. So far, studies aimed at evaluating whether age at surgery is a factor influencing surgical outcome are lacking, so that data on the comparison between patients harboring Type II FCD operated at younger age and those operated at adult age are still scarce. We compared presurgical clinical features and surgical outcomes of patients with histopathologically diagnosed Type II FCD undergoing surgery at an earlier age with those operated after 20 years of age...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28249093/exploring-use-of-the-coordinate-response-measure-in-a-multitalker-babble-paradigm
#5
Larry E Humes, Gary R Kidd, Daniel Fogerty
Purpose: Three experiments examined the use of competing coordinate response measure (CRM) sentences as a multitalker babble. Method: In Experiment I, young adults with normal hearing listened to a CRM target sentence in the presence of 2, 4, or 6 competing CRM sentences with synchronous or asynchronous onsets. In Experiment II, the condition with 6 competing sentences was explored further. Three stimulus conditions (6 talkers saying same sentence, 1 talker producing 6 different sentences, and 6 talkers each saying a different sentence) were evaluated with different methods of presentation...
March 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28159459/osteoporosis-in-stickler-syndrome-a-new-family-case-with-bone-histology-study
#6
P Insalaco, E Legrand, B Bouvard, M Audran
The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by Stickler in 1965, due to mutations on the collagen genes. Currently about 40 different genes have been identified which encode for at least 27 different collagens. The majority of mutations occur in the COL2A1 gene on chromosome 12q13 (SS type I). Mutations in COL11A1 are less frequent (SS type II). More recently, mutations in COL11A2 and in the COL9A1 gene have been reported with particular phenotypes. The main features of this autosomal inherited disease are ocular, auditory with orofacial abnormalities and early-onset osteoarthritis...
January 31, 2017: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/28118374/dynamic-expression-of-sox2-gata3-and-prox1-during-primary-auditory-neuron-development-in-the-mammalian-cochlea
#7
Koji Nishimura, Teppei Noda, Alain Dabdoub
Primary auditory neurons (PANs) connect cochlear sensory hair cells in the mammalian inner ear to cochlear nucleus neurons in the brainstem. PANs develop from neuroblasts delaminated from the proneurosensory domain of the otocyst and keep maturing until the onset of hearing after birth. There are two types of PANs: type I, which innervate the inner hair cells (IHCs), and type II, which innervate the outer hair cells (OHCs). Glial cells surrounding these neurons originate from neural crest cells and migrate to the spiral ganglion...
2017: PloS One
https://www.readbyqxmd.com/read/28041819/circulating-tricarboxylic-acid-cycle-metabolite-levels-in-citrin-deficient-children-with-metabolic-adaptation-with-and-without-sodium-pyruvate-treatment
#8
Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Mariko Nakacho, Ichiro Morioka, Hirokazu Tsukahara, Shunsaku Kaji, Satoshi Hirayama, Takashi Miida, Hiroki Kondou, Kenji Ihara, Mariko Yagi, Zenro Kizaki, Kazuhiko Bessho, Takahiro Kodama, Kazumoto Iijima, Takeyori Saheki, Tohru Yorifuji, Akira Honda
Citrin deficiency causes adult-onset type II citrullinemia (CTLN-2), which later manifests as severe liver steatosis and life-threatening encephalopathy. Long-standing energy deficit of the liver and brain may predispose ones to CTLN-2. Here, we compared the energy-driving tricarboxylic acid (TCA) cycle and fatty acid β-oxidation cycle between 22 citrin-deficient children (age, 3-13years) with normal liver functions and 37 healthy controls (age, 5-13years). TCA cycle analysis showed that basal plasma citrate and α-ketoglutarate levels were significantly higher in the affected than the control group (p<0...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27874975/structural-and-functional-brain-alterations-in-a-murine-model-of-angiotensin-ii-induced-hypertension
#9
Anja Meissner, Jens Minnerup, Guadalupe Soria, Anna M Planas
Hypertension is a main risk factor for the development of cerebral small vessel disease (cSVD) - a major contributor to stroke and the most common cause of vascular dementia. Despite the increasing socioeconomic importance arising from cSVD, currently only a few specific treatment strategies with proven efficacy are known. Fundamental to the lack of specific treatments is poor understanding of the disease pathogenesis and a lack of appropriate animal models resembling all symptoms of the human disease. However, chronic hypertensive rat models have been shown to bear similarities to most key features of cSVD...
November 22, 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27780308/role-of-fibulin-3-in-aging-related-joint-changes-and-osteoarthritis-pathogenesis-in-human-and-mouse-knee-cartilage
#10
Akihiko Hasegawa, Tomo Yonezawa, Noboru Taniguchi, Koji Otabe, Yukio Akasaki, Tetsuya Matsukawa, Masahiko Saito, Masashi Neo, Lihua Y Marmorstein, Martin K Lotz
OBJECTIVE: The EFEMP1 gene encoding fibulin 3 is specifically expressed in the superficial zone (SZ) of articular cartilage. The aims of this study were to examine the expression patterns of fibulin 3 in the knee joints during aging and during osteoarthritis (OA) and to determine the role of fibulin 3 in the pathogenesis of OA. METHODS: Immunohistochemical analysis was performed on normal and OA knee cartilage samples from humans and mice. Experimental OA was induced in wild-type and fibulin 3(-/-) mice, and the severity of OA was evaluated by histologic scoring...
March 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27724842/anesthetic-experience-of-an-adult-male-with-citrullinemia-type-ii-a-case-report
#11
Jung Ju Choi, Hong Soon Kim, Kyung Cheon Lee, Youseok Shin, Youn Yi Jo
BACKGROUND: Citrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. However, the management of recurrent hyperammonemia with neurologic symptoms in patients with citrullinemia type II is quite different from the management of other types of urea cycle disorders. In pats with citrullinemia type II, regional anesthesia might be a good choice for the early detection of hyperammonemic symptoms and addressing psychic stress. CASE PRESENTATION: A 48-year-old male with adult onset citrullinemia type II was scheduled for urethral scrotal fistula repair...
October 11, 2016: BMC Anesthesiology
https://www.readbyqxmd.com/read/27673127/poster-375-adult-onset-lumbar-radiculopathy-secondary-to-type-ii-diastematomyelia-a-case-report
#12
Nicholas Giordano, Caitlin Cicone, Matthew G Hadilaksono, Sanjeev Agarwal, Getahun Kifle
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27633740/dissociation-between-short-term-unloading-and-resistance-training-effects-on-skeletal-muscle-na-k-atpase-muscle-function-and-fatigue-in-humans
#13
Ben D Perry, Victoria L Wyckelsma, Robyn M Murphy, Collene H Steward, Mitchell Anderson, Itamar Levinger, Aaron C Petersen, Michael J McKenna
Physical training increases skeletal muscle Na(+),K(+)-ATPase content (NKA) and improves exercise performance, but the effects of inactivity per se on NKA content and isoform abundance in human muscle are unknown. We investigated the effects of 23-day unilateral lower limb suspension (ULLS) and subsequent 4-wk resistance training (RT) on muscle function and NKA in 6 healthy adults, measuring quadriceps muscle peak torque; fatigue and venous [K(+)] during intense one-legged cycling exercise; and skeletal muscle NKA content ([(3)H]ouabain binding) and NKA isoform abundances (immunoblotting) in muscle homogenates (α1-3, β1-2) and in single fibers (α1-3, β1)...
November 1, 2016: Journal of Applied Physiology
https://www.readbyqxmd.com/read/27472072/clinical-features-of-patients-with-game-induced-seizures-in-the-chinese-population
#14
Xiaoyan Yang, Yujiao Fu, Qiong Zhan, Sha Huang, Luo Zhou, Hongyu Long, Pinting Zhou, Chaorong Liu, Yayu Chen, Lili Long, Bo Xiao
PURPOSE: To study the clinical characteristics of patients with game-induced seizures in the Chinese population. METHOD: We assessed 51 patients with various game-induced epileptic seizures. Based on whether they had spontaneous seizures, these 51 patients were classified as two groups. Twenty-seven patients who had both game-induced and spontaneous seizures were referred to as Group I, whereas twenty-four patients that had experienced seizures exclusively while playing specific games were assigned to Group II...
October 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27347070/case-report-an-adult-onset-type-ii-citrin-deficiency-patient-in-the-emergency-department
#15
Lujia Tang, Liang Chen, Hairong Wang, Lihua Dai, Shuming Pan
Mutations in the solute carrier family 25 (SLC25A13) gene may result in neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia. These conditions are inherited in an autosomal recessive manner. The current case report describes a 43-year-old man who presented with sudden delirium and upper limb weakness. Upon admission, the patient was fully conscious and alert but later lost consciousness subsequent to a sudden convulsive seizure. Hyperammonemia was detected and analysis of the SLC25A13 gene identified an 851del4 mutation...
July 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27315758/sfe-sfhta-afce-consensus-on-primary-aldosteronism-part-5-genetic-diagnosis-of-primary-aldosteronism
#16
Maria-Christina Zennaro, Xavier Jeunemaitre
While the majority of cases of primary aldosteronism (PA) are sporadic, four forms of autosomal-dominant inheritance have been described: familial hyperaldosteronism (FH) types I to IV. FH-I, also called glucocorticoid-remediable aldosteronism, is characterized by early and severe hypertension, usually before the age of 20 years. It is due to the formation of a chimeric gene between the adjacent CYP11B2 and CYP11B1 genes (coding for aldosterone synthase and 11β-hydroxylase, respectively). FH-I is often associated with family history of stroke before 40years of age...
July 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/27259053/mutations-in-ganab-encoding-the-glucosidase-ii%C3%AE-subunit-cause-autosomal-dominant-polycystic-kidney-and-liver-disease
#17
Binu Porath, Vladimir G Gainullin, Emilie Cornec-Le Gall, Elizabeth K Dillinger, Christina M Heyer, Katharina Hopp, Marie E Edwards, Charles D Madsen, Sarah R Mauritz, Carly J Banks, Saurabh Baheti, Bharathi Reddy, José Ignacio Herrero, Jesús M Bañales, Marie C Hogan, Velibor Tasic, Terry J Watnick, Arlene B Chapman, Cécile Vigneau, Frédéric Lavainne, Marie-Pierre Audrézet, Claude Ferec, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease (ESRD), which requires transplantation or dialysis. Mutations in PKD1 or PKD2 (∼85% and ∼15% of resolved cases, respectively) are the known causes of ADPKD. Extrarenal manifestations include an increased level of intracranial aneurysms and polycystic liver disease (PLD), which can be severe and associated with significant morbidity. Autosomal-dominant PLD (ADPLD) with no or very few renal cysts is a separate disorder caused by PRKCSH, SEC63, or LRP5 mutations...
June 2, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27215558/improving-long-term-outcomes-in-urea-cycle-disorders-report-from-the-urea-cycle-disorders-consortium
#18
Susan E Waisbren, Andrea L Gropman, Mark L Batshaw
The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme deficiencies/transporter defects associated with the urea cycle. These include N-acetylglutamate synthase deficiency (NAGSD); Carbamyl phosphate synthetase 1 deficiency (CPS1D); Ornithine transcarbamylase deficiency (OTCD); Argininosuccinate synthetase deficiency (ASSD) (Citrullinemia); Argininosuccinate lyase deficiency (ASLD) (Argininosuccinic aciduria); Arginase deficiency (ARGD, Argininemia); Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine transporter 1 deficiency [ORNT1D]); and Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency [CITRIN])...
July 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27214100/hla-drb1-dqa1-and-dqb1-in-juvenile-onset-systemic-sclerosis
#19
Anne M Stevens, Sami B Kanaan, Kathryn S Torok, Thomas A Medsger, Maureen D Mayes, John D Reveille, Marisa Klein-Gitelman, Ann M Reed, Tzielan Lee, Suzanne C Li, Gretchen Henstorf, Christine Luu, Tessa Aydelotte, J Lee Nelson
OBJECTIVE: Systemic sclerosis (SSc) is a rare disease that is particularly uncommon in children. Specific HLA alleles have been associated with SSc in adults. This study investigated HLA class II alleles in juvenile onset SSc (jSSc). METHODS: DRB1, DQA1 and DQB1 alleles were determined by DNA-based HLA typing. Analyses were conducted comparing Caucasians with jSSc (n=76) to healthy Caucasians (n=581). RESULTS: Initial analyses focused on HLA class II associations previously reported in adult Caucasians with SSc...
May 23, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27099212/administrative-prevalence-of-insomnia-and-associated-clinical-features-in-patients-with-addiction-during-active-substance-use
#20
Lara Grau-López, Constanza Daigre, Laia Grau-López, Laia Rodriguez-Cintas, Ángel Egido, Miquel Casas, Carlos Roncero
INTRODUCTION: A bidirectional relation between substance use and insomnia has been described, although there are few studies examining insomnia in the population of people with addiction. The aim of this study was to describe the prevalence of insomnia during active substance use in patients with addiction and its associated clinical features. PATIENTS AND METHODS: Descriptive study in patients diagnosed with substance dependence disorder admitted to a Hospital Detoxification Unit...
March 2016: Actas Españolas de Psiquiatría
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