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Adult onset type II

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https://www.readbyqxmd.com/read/29758338/how-do-children-fall-asleep-a-high-density-eeg-study-of-slow-waves-in-the-transition-from-wake-to-sleep
#1
Mathilde Spiess, Giulio Bernardi, Salome Kurth, Maya Ringli, Flavia M Wehrle, Oskar G Jenni, Reto Huber, Francesca Siclari
INTRODUCTION: Slow waves, the hallmarks of non-rapid eye-movement (NREM) sleep, are thought to reflect maturational changes that occur in the cerebral cortex throughout childhood and adolescence. Recent work in adults has revealed evidence for two distinct synchronization processes involved in the generation of slow waves, which sequentially come into play in the transition to sleep. In order to understand how these two processes are affected by developmental changes, we compared slow waves between children and young adults in the falling asleep period...
May 11, 2018: NeuroImage
https://www.readbyqxmd.com/read/29659898/cholesterol-metabolism-is-enhanced-in-the-liver-and-brain-of-children-with-citrin-deficiency
#2
Satoshi Hirayama, Hironori Nagasaka, Akira Honda, Haruki Komatsu, Takahiro Kodama, Ayano Inui, Ichiro Morioka, Shunsaku Kaji, Tsuyoshi Ueno, Kenji Ihara, Mariko Yagi, Zenro Kizaki, Kazuhiko Bessho, Hiroki Kondou, Tohru Yorifuji, Hirokazu Tsukahara, Kazumoto Iijima, Takashi Miida
Context: Citrin-deficient infants present neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), which resolves at 12 months. Thereafter, they have normal liver function associated with hypercholesterolemia, and a preference for lipid-rich carbohydrate-restricted diets. However, some develop adult-onset type II citrullinemia (CTLN2), which is associated with metabolic abnormalities. Objectives: To identify the causes of hypercholesterolemia in citrin-deficient children post-NICCD...
April 5, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29651749/medium-chain-triglycerides-supplement-therapy-with-a-low-carbohydrate-formula-can-supply-energy-and-enhance-ammonia-detoxification-in-the-hepatocytes-of-patients-with-adult-onset-type-ii-citrullinemia
#3
Kiyoshi Hayasaka, Chikahiko Numakura, Mitsunori Yamakawa, Tetsuo Mitsui, Hisayoshi Watanabe, Hiroaki Haga, Masahide Yazaki, Hiromasa Ohira, Yasuo Ochiai, Toshiyuki Tahara, Tamio Nakahara, Noriyo Yamashiki, Takahiro Nakayama, Takashi Kon, Hiroshi Mitsubuchi, Hiroshi Yoshida
Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. Secondary decrease in hepatic argininosuccinate synthetase (ASS1) expression has been considered a cause of hyperammonemia in CTLN2. We previously reported that medium-chain triglyceride (MCT) supplement therapy with a low-carbohydrate formula was effective in CTLN2 to prevent a relapse of hyperammonemic encephalopathy...
April 12, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29625568/consensus-clinical-management-guidelines-for-niemann-pick-disease-type-c
#4
REVIEW
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A Jones, Daniel Ory, Bruno Bembi, Marc Patterson
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29553114/-efficacy-pharmacokinetics-and-safety-of-icatibant-for-the-treatment-of-japanese-patients-with-an-acute-attack-of-hereditary-angioedema-a-phase-3-open-label-study
#5
Michihiro Hide, Atsushi Fukunaga, Junichi Maehara, Kazunori Eto, James Hao, Moshe Vardi, Yuji Nomoto
BACKGROUND: Hereditary angioedema (HAE) is characterized by paroxysmal edema of the skin, gastrointestinal mucosa, and upper respiratory tract. PURPOSE: This study investigated icatibant, a selective bradykinin B2 receptor antagonist, as treatment for Japanese patients with an acute HAE attack. METHODS: This was an open-label, single-arm, Phase 3 study of Japanese adults with HAE type I or II. Icatibant (30 mg) was administered (by a healthcare professional [HCP] or self-administered) as a subcutaneous injection in the abdomen...
2018: Arerugī, [Allergy]
https://www.readbyqxmd.com/read/29536590/neuronal-cell-adhesion-molecule-nrcam-is-expressed-by-sensory-cells-in-the-cochlea-and-is-necessary-for-proper-cochlear-innervation-and-sensory-domain-patterning-during-development
#6
Randall J Harley, Joseph P Murdy, Zhirong Wang, Michael C Kelly, Tessa-Jonne F Ropp, SeHoon H Park, Patricia F Maness, Paul B Manis, Thomas M Coate
BACKGROUND: In the cochlea, auditory development depends on precise patterns of innervation by afferent and efferent nerve fibers, as well as a stereotyped arrangement of hair and supporting cells. NrCAM is a homophilic cell adhesion molecule that controls diverse aspects of nervous system development, but the function of NrCAM in cochlear development is not well understood. RESULTS: Throughout cochlear innervation, NrCAM is detectable on spiral ganglion neuron (SGN) afferent and olivocochlear efferent fibers, and on the membranes of developing hair and supporting cells...
March 14, 2018: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/29368097/sudden-development-of-adult-onset-type-ii-citrullinemia-after-total-gastrectomy-a-case-report
#7
Ryuji Komine, Keisuke Minamimura, Akihiro Watanabe, Atushi Shimizu, Kazuhiko Mori, Toru Hirata, Takashi Kobayashi, Sotaro Akatsuka
BACKGROUND: Adult-onset type II citurullinemia is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia resulting from high plasma citrulline and ammonium levels. This report describes a rare case of adult-onset type II citurullinemia that occurred in a patient who only had the heterozygote mutation, and had never presented with any symptoms before surgery. CASE PRESENTATION: A 56-year-old man underwent a total gastrectomy for stomach cancer...
January 25, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/29358304/the-amh-genotype-rs10407022-t-g-is-associated-with-circulating-amh-levels-in-boys-but-not-in-girls
#8
Iben Katinka Greiber, Casper P Hagen, Alexander Siegfried Busch, Mikkel Grunnet Mieritz, Lise Aksglæde, Katharina Main, Kristian Almstrup, Anders Juul
OBJECTIVE: Fetal anti-Müllerian hormone (AMH) is responsible for normal male sexual differentiation, and circulating AMH is used as a marker of testicular tissue in newborns with disorders of sex development. Little is known about the mechanism of action in postnatal life. A recent genome wide association study (GWAS) reported genetic variation of AMH affecting AMH levels in young men. This study investigated the effect of genetic variation of AMH and AMH type II receptor (AMHR2) ( AMH rs10407022 T>G and AMHR2 rs11170547 C>T) on circulating reproductive hormone levels and pubertal onset in boys and girls...
February 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29174319/different-dietary-patterns-and-new-onset-diabetes-mellitus-after-kidney-transplantation-a-cross-sectional-study
#9
Analaura Centenaro, Elis F Pedrollo, Bruna B Nicoletto, Roberto C Manfro, Luiz Felipe S Gonçalves, Cristiane B Leitão, Gabriela C Souza
OBJECTIVE: To verify the association of dietary patterns and dietary components with new-onset diabetes mellitus after transplantation (NODAT). DESIGN: Cross-sectional study. SUBJECTS: Adult kidney transplant recipients, without history of diabetes before transplantation, who received a kidney transplant and were followed up for at least 1 year. One hundred and sixteen subjects recruited between January 2013 and August 2014. Diagnosis of NODAT was established according to the American Diabetes Association criteria for type 2 diabetes...
March 2018: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/29162978/exploring-the-interaction-of-drosophila-tdp-43-and-the-type-ii-voltage-gated-calcium-channel-cacophony-in-regulating-motor-function-and-behavior
#10
Kayly M Lembke, David B Morton
Amyotrophic lateral sclerosis (ALS) is the most common adult onset motor neurodegenerative disease. The cause of the disease remains obscure, and as such there is no effective treatment or cure. Amyotrophic lateral sclerosis and other neurodegenerative diseases are frequently characterized by dysfunction of the RNA-binding protein, TDP-43. Using model systems to understand the mechanisms underlying TDP-43 dysfunction should accelerate identification of therapeutic targets. A recent report has shown that motor defects caused by the deletion of the Drosophila TDP-43 ortholog, tbph , are not driven by changes in the physiology at the neuromuscular junction...
2017: Journal of Experimental Neuroscience
https://www.readbyqxmd.com/read/29080273/ustekinumab-treatment-of-pityriasis-rubra-pilaris-a-report-of-five-cases
#11
Monica Napolitano, Luigi Lembo, Luca Fania, Damiano Abeni, Dario Didona, Biagio Didona
Pityriasis rubra pilaris (PRP) is a rare, chronic, inflammatory skin disease of unknown etiology. Patients refractory to conventional therapies have been treated successfully with biologic drugs such as anti-tumor necrosis factor agents. Recently, a role of the interleukin-23/T-helper 17 axis in PRP has been described. Our objective was to assess the effectiveness of ustekinumab in five patients with adult-onset PRP refractory to conventional therapies. In the present study, four patients had type I and one patient type II adult-onset PRP...
February 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29055051/opposing-expression-gradients-of-calcitonin-related-polypeptide-alpha-calca-cgrp%C3%AE-and-tyrosine-hydroxylase-th-in-type-ii-afferent-neurons-of-the-mouse-cochlea
#12
Jingjing Sherry Wu, Pankhuri Vyas, Elisabeth Glowatzki, Paul Albert Fuchs
Type II spiral ganglion neurons (SGNs) are small caliber, unmyelinated afferents that extend dendritic arbors hundreds of microns along the cochlear spiral, contacting many outer hair cells (OHCs). Despite these many contacts, type II afferents are insensitive to sound and only weakly depolarized by glutamate release from OHCs. Recent studies suggest that type II afferents may be cochlear nociceptors, and can be excited by ATP released during tissue damage, by analogy to somatic pain-sensing C-fibers. The present work compares the expression patterns among cochlear type II afferents of two genes found in C-fibers: calcitonin-related polypeptide alpha (Calca/Cgrpα), specific to pain-sensing C-fibers, and tyrosine hydroxylase (Th), specific to low-threshold mechanoreceptive C-fibers, which was shown previously to be a selective biomarker of type II versus type I cochlear afferents (Vyas et al...
February 15, 2018: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28959127/self-stigma-of-patients-with-type-1-diabetes-and-their-coping-strategies
#13
Ikuko Nishio, Masami Chujo
BACKGROUND: The purpose of this study was to examine the stigma and coping strategies of patients with type 1 diabetes. METHODS: Data were collected from 24 adult patients with type 1 diabetes via in-depth semi-structured interviews that took place in clinic waiting rooms. Qualitative and descriptive data analysis was conducted to identify stigma and coping strategies of patients with type 1 diabetes. RESULTS: Stigma of patients with type 1 diabetes consisted of four categories: (i) "hatred of insulin" due to a treatment-oriented lifestyle after the onset of the disease, (ii) "imperfect body" due to systemic changes caused by the disease, (iii) "social outcast" as a diabetes patient who used to be healthy, and (iv) "poor me," a negative self-image due to the responses and attitudes of others...
September 2017: Yonago Acta Medica
https://www.readbyqxmd.com/read/28843850/substance-use-disorders-in-adolescent-and-young-adult-relatives-of-probands-with-bipolar-disorder-what-drives-the-increased-risk
#14
Leslie A Hulvershorn, Jennifer King, Patrick O Monahan, Holly C Wilcox, Philip B Mitchell, Janice M Fullerton, Howard J Edenberg, Gloria M P Roberts, Masoud Kamali, Anne L Glowinski, Neera Ghaziuddin, Melvin McInnis, Priya A Iyer-Eimerbrink, John I Nurnberger
BACKGROUND: Adults with bipolar disorder (BD) have higher rates of substance use disorders (SUDs) compared to the general population. SUD rates in young offspring/relatives of BD probands, as well as factors which drive those rates, are not as well-characterized. METHODS: We aimed to examine SUD prevalence among adolescent/young adult offspring and relatives of probands with and without BD. Data were collected from five sites in the US and Australia during 2006-2011...
October 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28705881/defining-a-novel-role-for-the-pdx1-transcription-factor-in-islet-%C3%AE-cell-maturation-and-proliferation-during-weaning
#15
Jason M Spaeth, Manisha Gupte, Mark Perelis, Yu-Ping Yang, Holly Cyphert, Shuangli Guo, Jin-Hua Liu, Min Guo, Joseph Bass, Mark A Magnuson, Christopher Wright, Roland Stein
The transcription factor encoded by the Pdx1 gene is a critical transcriptional regulator, as it has fundamental actions in the formation of all pancreatic cell types, islet β-cell development, and adult islet β-cell function. Transgenic- and cell line-based experiments have identified 5'-flanking conserved sequences that control pancreatic and β-cell type-specific transcription, which are found within areas I (bp -2694 to -2561), II (bp -2139 to -1958), III (bp -1879 to -1799), and IV (bp -6200 to -5670)...
November 2017: Diabetes
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
#16
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
#17
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
#18
REVIEW
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...
May 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
#19
COMPARATIVE STUDY
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
#20
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
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