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Adult onset type II

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
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
Ben Douglas Perry, Victoria L Wyckelsma, Robyn M Murphy, Collene H Steward, Mitchell Anderson, Itamar Levinger, Aaron C Petersen, Michael John McKenna
Physical training increases skeletal muscle Na(+),K(+)-ATPase (NKA) and improves exercise performance, but the effects of inactivity per se on NKA in human muscle are unknown. We investigated the effects of 23-days unilateral lower limb suspension (ULLS) and subsequent 4-weeks resistance training (RT) on muscle function and NKA in six 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)...
September 15, 2016: Journal of Applied Physiology
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
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
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
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
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
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
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
L A Mogylnytska
The atherosclerotic process begins in adolescence, and its progression is determined by the same risk factors as in adults. Endothelial monocyte activating polypeptide-II (EMAP-II) is a multifunctional cytokine with proinflammatory and antiangiogenetic activity that may play a pathogenic role in the development of endothelial dysfunction and atherosclerosis. The aim of our study was to determine the serum level of EMAP-II in childhood-onset type 1 diabetic patients and obese adolescents. We found increased of serum level of EMAP-II in childhood-onset type 1 diabetic patients and in patients with obesity that do not suffer from diabetes...
July 2015: Likars'ka Sprava
Elena Gonzalo-Gil, María J Pérez-Lorenzo, María Galindo, Rafael Díaz de la Guardia, Belén López-Millán, Clara Bueno, Pablo Menéndez, José L Pablos, Gabriel Criado
BACKGROUND: The immunosuppressive and anti-inflammatory properties of mesenchymal stromal cells (MSC) have prompted their therapeutic application in several autoimmune diseases, including rheumatoid arthritis. Adult MSC are finite and their clinical use is restricted by the need for long-term expansion protocols that can lead to genomic instability. Inhibition of Smad2/3 signaling in human pluripotent stem cells (hPSC) provides an infinite source of MSC that match the phenotype and functional properties of adult MSC...
2015: Arthritis Research & Therapy
Koichiro Wasano, Tatsuo Matsunaga, Kaoru Ogawa, Shinji Kunishima
MYH9 disorder is a rare autosomal-dominant disorder. We previously reported that it is caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9 disorder causes congenital macrothrombocytopenia accompanied by progressive sensorineural hearing loss, nephropathy, and cataract. However, there are few reports that describe the audiological features of MYH9 disorder. The objective of this study was to characterize auditory and other phenotypes of patients with MYH9 disorder. We examined nine subjects from one Japanese family...
March 4, 2016: European Archives of Oto-rhino-laryngology
A Podhorzer, N Paladino, M L Cuarterolo, H A Fainboim, S Paz, G Theiler, M Capucchio, S I López, A Machicote, S Montal, G Podesta, L Fainboim
We have previously reported a strong association between HLA-DRB1*1301 and type 1 pediatric autoimmune hepatitis (PAH) and between HLA-DR*0405 and adult autoimmune hepatitis (AAH). Because human killer cell immunoglobulin-like receptors are known to be associated with susceptibility to autoimmune diseases, we investigated the frequencies of HLA-A, B, C, DRB1 and KIR genes in 144 type 1 PAH and 86 AAH patients, which were compared with 273 healthy controls. We demonstrated in PAH the increased frequency of the functional form of KIR2DS4-Full Length (KIR2DS4-FL), which in combination with HLA-DRB1*1301 revealed a strong synergistic effect (odds ratio=36...
April 2016: Genes and Immunity
Greta Forlani, Rawan Abdallah, Roberto S Accolla, Giovanna Tosi
UNLABELLED: Human T cell lymphotropic virus type 1 (HTLV-1) Tax-1, a key protein in HTLV-1-induced T cell transformation, deregulates diverse cell signaling pathways. Among them, the NF-κB pathway is constitutively activated by Tax-1, which binds to NF-κB proteins and activates the IκB kinase (IKK). Upon phosphorylation-dependent IκB degradation, NF-κB migrates into the nucleus, mediating Tax-1-stimulated gene expression. We show that the transcriptional regulator of major histocompatibility complex class II genes CIITA (class II transactivator), endogenously or ectopically expressed in different cells, inhibits the activation of the canonical NF-κB pathway by Tax-1 and map the region that mediates this effect...
April 2016: Journal of Virology
Davide Tonduti, Anna Ardissone, Isabella Ceccherini, Giorgio Giaccone, Laura Farina, Isabella Moroni
Alexander disease is an hereditary leukodystrophy related to mutations of GFAP. Classically AxD was divided in infantile, juvenile, and adult subgroups. Recent data suggested considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). We report two related and one unrelated patients presenting with a peculiar association of clinical and neuroradiological features. GFAP analysis disclosed the presence of one novel and two previously reported mutations...
June 2016: Neurological Sciences
Shiemaa Khogali, Brooke Lucas, Tarek Ammar, Danica Dejong, Michael Barbalinardo, Lawrence J Hayward, Jean-Marc Renaud
The mechanisms responsible for the onset and progressive worsening of episodic muscle stiffness and weakness in hyperkalemic periodic paralysis (HyperKPP) are not fully understood. Using a knock-in HyperKPP mouse model harboring the M1592V NaV1.4 channel mutant, we interrogated changes in physiological defects during the first year, including tetrodotoxin-sensitive Na(+) influx, hindlimb electromyographic (EMG) activity and immobility, muscle weakness induced by elevated [K(+)]e, myofiber-type composition, and myofiber damage...
December 2015: Physiological Reports
Marek Woynarowski, Małgorzata Woźniak, Bożena Cukrowska, Aldona Wierzbicka, Simon D Lytton
BACKGROUND: Anti-liver kidney microsome (anti-LKM) autoantibodies are a distinguishing feature of type II autoimmune hepatitis (AIH-2). However, the levels of anti-LKM-1 in adult AIH-2 patients and their role in liver immunopathology remain equivocal. The aim of the study was to survey the autoantibody profile and the activity of liver disease in adult patients diagnosed with AIH-2 at childhood. METHODS: The autoantibody profile of adults was compared with the autoantibodies of the pediatric period...
September 2016: Journal of Clinical Laboratory Analysis
Debra S Regier, Hyuk Joon Kwon, Jean Johnston, Gretchen Golas, Sandra Yang, Edythe Wiggs, Yvonne Latour, Sarah Thomas, Cindy Portner, David Adams, Gilbert Vezina, Eva H Baker, Cynthia J Tifft
Background GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in GLB1, encoding β-galactosidase. The range of severity is from type I infantile disease, lethal in early childhood, to type III adult onset, resulting in gradually progressive neurological symptoms in adulthood. The intermediate group of patients has been recently classified as having type II late infantile subtype with onset of symptoms at one to three years of age or type II juvenile subtype with symptom onset at 2-10 years...
March 2016: American Journal of Medical Genetics. Part A
Petri Arvilommi, Kirsi Suominen, Outi Mantere, Hanna Valtonen, Sami Leppämäki, Erkki Isometsä
OBJECTIVES: Bipolar disorder (BD) is one of the leading causes of disability worldwide. However, vocational ability and predictors of long-term work disability have rarely been studied among patients with BD. We investigated clinical predictors of work disability among patients with BD in psychiatric care. METHODS: The Jorvi Bipolar Study (JoBS) is a naturalistic prospective cohort study (N = 191) representing adult (18-59 years) psychiatric inpatients and outpatients with DSM-IV bipolar I disorder (BD-I) and bipolar II disorder (BD-II) in three Finnish cities...
December 2015: Bipolar Disorders
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