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Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Elizabeth E Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna Mm Howson, Stephan J Sanders, Anne O'Donnell-Luria, Nicola Whiffin
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a novel syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome 2 . We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 119 individuals with NDD...
April 9, 2024: medRxiv
#2
Judy Zheng, Zachary Storad, Mustafa Al-Chalabi, Khaled Gharaibeh, Sidra Saleem, Ajaz Sheikh, Naeem Mahfooz
BACKGROUND: Lance-Adams Syndrome (LAS) is a rare complication of successful cardiopulmonary resuscitation (CPR). It is a form of posthypoxic myoclonus characterized by action or intention myoclonus developing days to months after an hypoxic insult to the brain. LAS, especially early in a patient's clinical course, can be challenging to diagnose. Electroencephalogram (EEG) pattern of midline spike-wave discharge associated with favorable prognosis. There is no consensus in treatment of LAS but use of various anti-epileptic medications has been documented in literature...
2023: Clinical Neurophysiology Practice
#3
JOURNAL ARTICLE
Asma K Omar, Lance C Li Puma, Luke A Whitcomb, Briana D Risk, Aria C Witt, Jason E Bruemmer, Quinton A Winger, Gerrit J Bouma, Adam J Chicco
Maternal diet during pregnancy is associated with offspring metabolic risk trajectory in humans and animal models, but the prenatal origins of these effects are less clear. We examined the effects of a high-fat diet (HFD) during pregnancy on fetal skeletal muscle metabolism and metabolic risk parameters using an ovine model. White-faced ewes were fed standardized diet containing 5% fat w/w (CON), or the same diet supplemented with 6% rumen-protected fats (11% total fat w/w; HFD) beginning two weeks before mating until mid-gestation (GD75)...
August 29, 2023: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
#4
JOURNAL ARTICLE
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E Sheppard, Paul Mark, Margaret H Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C E Hurst, Michelle L Thompson, Anna Chassevent, Constance L Smith-Hicks, Xavier de la Cruz, Alexander M Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Deborah L French, Elizabeth A Heller, Murielle Saade, Hongjun Song, Guo-Li Ming, Fowzan S Alkuraya, Pankaj B Agrawal, Danny Reinberg, Elizabeth J Bhoj, Marian A Martínez-Balbás, Naiara Akizu
Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown...
July 11, 2023: Nature Communications
#5
REVIEW
H Shafeeq Ahmed
Post-hypoxic myoclonus (PHM) is a rare neurological complication having two different variants depending on acute or chronic onset after cardiopulmonary resuscitation following cardiac arrest: myoclonic status epilepticus (MSE) and Lance-Adams syndrome (LAS) respectively. Clinical and simultaneous electro-encephalographic (EEG) and electromyographic (EMG) tracing can distinguish between the two. Anecdotal treatment with benzodiazepines and anaesthetics (in the case of MSE) have been tried. Although limited evidence is available, valproic acid, clonazepam and levetiracetam, either in combination with other drugs or alone, have shown to control epilepsy associated with LAS effectively...
June 7, 2023: Tropical Doctor
#6
Aleezay Asghar, Benjamin Barnes, Ahmed Aburahma, Sabiha Khan, Gabriella Primera, Nakul Ravikumar
Post hypoxic myoclonus (PHM) is considered a poor prognostic sign and may influence decisions regarding withdrawal of treatment. PHM is generally categorized in literature as either acute or chronic (also commonly referred to as Lance-Adams Syndrome) based on the onset of myoclonus. However, it may be more accurate to differentiate between the various presentations of PHM based on the clinical characteristics and electroencephalogram (EEG) findings for prognostication. Here, we describe a case of a 33-year-old female who presented after a cardiopulmonary arrest...
2023: Epilepsy & behavior reports
#7
Ali Rahman, Sura Alqaisi, Beth Helfman
Lance-Adams syndrome (LAS), also known as chronic post-hypoxic myoclonus (PHM), is a rare condition that may present with intention myoclonus in a patient who has regained consciousness after cardiorespiratory arrest. This case report describes a patient who received successful cardiopulmonary resuscitation (CPR) after going into cardiac arrest. And regaining consciousness, the patient developed myoclonic jerks diagnosed as LAS. The patient responded well to treatment with clonazepam and physical rehabilitation...
December 2022: Curēus
#8
JOURNAL ARTICLE
Nurşah Yeniay Süt, Miraç Yıldırım, Ömer Bektaş, Tanıl Kendirli, Serap Teber
OBJECTIVE: Lance-Adams syndrome is a rare but devastating disorder characterized by rest, action, and stimulus-sensitive myoclonus after cardiorespiratory arrest. We aimed to present a case of multidrug-resistant Lance-Adams syndrome that was successfully treated with oral phenobarbital therapy. METHOD AND RESULTS: We report a previously healthy 11-year, 6-month-old boy was referred to our pediatric intensive care unit because of severe hypoxic ischemic brain injury due to sudden cardiorespiratory arrest...
January 2023: Clinical Neuropharmacology
#9
Mohanakkannan Subramanian, Sakthi Velayudham, Malcolm Jeyaraj, S Arunan, Sowmini Perumal, Kranthi Mohan
Lance Adams syndrome is the term used to describe late post-hypoxic myoclonus. Here we describe a patient who developed action and intention myoclonus after 7 days of attempted partial hanging. The similarity of Lance Adams syndrome, which is a treatable condition to a cerebellar syndrome, and the diagnostic difficulties have been highlighted. How to cite this article: Subramanian M, Velayudham S, Jeyaraj M, Arunan S, Perumal S, Mohan K. A Case of Lance Adams Syndrome in a Patient with Attempted Hanging...
September 2022: Indian Journal of Critical Care Medicine
#10
JOURNAL ARTICLE
Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Eva Trochu, Virginie Vignard, Fatima El It, Lance H Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis Duffourd, Ange-Line Bruel, Adam Jackson, Siddharth Banka, Meriel McEntagart, Anand Saggar, Joseph G Gleeson, David Sievert, Hyunwoo Bae, Beom Hee Lee, Kisang Kwon, Go Hun Seo, Hane Lee, Anjum Saeed, Nadeem Anjum, Huma Cheema, Salem Alawbathani, Imran Khan, Jorge Pinto-Basto, Joyce Teoh, Jasmine Wong, Umar Bin Mohamad Sahari, Henry Houlden, Kristina Zhelcheska, Melanie Pannetier, Mona A Awad, Marion Lesieur-Sebellin, Giulia Barcia, Jeanne Amiel, Julian Delanne, Christophe Philippe, Laurence Faivre, Sylvie Odent, Aida Bertoli-Avella, Christel Thauvin, Bekim Sadikovic, Bruno Reversade, Reza Maroofian, Jérôme Govin, Marco Tartaglia, Antonio Vitobello
The transmembrane protein TMEM147 has a dual function: first at the nuclear envelope, where it anchors lamin B receptor (LBR) to the inner membrane, and second at the endoplasmic reticulum (ER), where it facilitates the translation of nascent polypeptides within the ribosome-bound TMCO1 translocon complex. Through international data sharing, we identified 23 individuals from 15 unrelated families with bi-allelic TMEM147 loss-of-function variants, including splice-site, nonsense, frameshift, and missense variants...
October 6, 2022: American Journal of Human Genetics
#11
JOURNAL ARTICLE
Michelle L Lim, Rachel R Z Lim, JongChie C Tien, Shawn Z Z Lim, Yi Lin Lee
Lance-Adams syndrome (chronic post-hypoxic myoclonus) is a rare syndrome occurring in patients after cardiopulmonary resuscitation. Awareness of this condition is important to distinguish it from myoclonic status epilepticus, which is a poor prognostic sign. We present the case of a 32-year-old woman who developed Lance-Adams syndrome after an episode of hypoxic cardiac arrest from severe pneumonia. Brain computed tomography, magnetic resonance imaging, and an electroencephalogram were used to rule out other causes of myoclonus...
August 1, 2022: A&A Practice
#12
JOURNAL ARTICLE
Ali Mir, Abdulaziz Alghamdi, Wajd Alotaibi, Daniya Samreen, Manar Alotaibi, Raidah Albaradie, Shahid Bashir
Epileptic myoclonus or myoclonic seizures can occur in idiopathic generalized epilepsy (IGE) and progressive myoclonus epilepsy (PME). However, symptomatic myoclonus which is stimulus-sensitive and provoked by movement is typically seen in PME and Lance-Adams syndrome. Symptomatic myoclonus is not always associated with epileptiform discharges on the electroencephalogram. Therapeutic interventions such as anti-seizure medications (ASMs), the ketogenic diet and vagus nerve stimulation are not always effective...
August 1, 2022: Epileptic Disorders: International Epilepsy Journal with Videotape
#13
Waiz Wasey, Caitlin Carter, Nav S Badesha, Maria Rossi, Malika Baig
Lance-Adams syndrome (LAS) is a rare complication of successful cardiopulmonary resuscitation, often accompanied by action myoclonus. Myoclonus may occur as generalized, focal, or multifocal movements and can include the face, trunk, and/or extremities. Only 100 cases of LAS have been reported worldwide. Here, we present the case of a 53-year-old female who had a cardiac arrest event after being admitted for posterior cervical wound dehiscence management following a posterior cervical fusion from C3-T1. The patient was successfully resuscitated but developed action myoclonus in all extremities shortly after...
April 2022: Curēus
#14
JOURNAL ARTICLE
Andy Ho Wing Chan, Jamie Nichols, Winona Tse, Sophia L Ryan
Background: Lance Adams syndrome is a chronic post-hypoxic myoclonus. Phenomenology Shown: This video abstract illustrates Lance Adams Syndrome with mixed cortical and reticular reflex myoclonus in a 32-year-old woman following respiratory arrest in the setting of an asthma attack, as well as improvement in her exam following pharmacologic management. Educational Value: Lance Adams syndrome can include both cortical and reticular reflex myoclonus features while interdisciplinary intervention and pharmacological treatment can improve symptomatology...
2022: Tremor and Other Hyperkinetic Movements
#15
JOURNAL ARTICLE
Andrew C Hunt, James Brett Case, Young-Jun Park, Longxing Cao, Kejia Wu, Alexandra C Walls, Zhuoming Liu, John E Bowen, Hsien-Wei Yeh, Shally Saini, Louisa Helms, Yan Ting Zhao, Tien-Ying Hsiang, Tyler N Starr, Inna Goreshnik, Lisa Kozodoy, Lauren Carter, Rashmi Ravichandran, Lydia B Green, Wadim L Matochko, Christy A Thomson, Bastian Vögeli, Antje Krüger, Laura A VanBlargan, Rita E Chen, Baoling Ying, Adam L Bailey, Natasha M Kafai, Scott E Boyken, Ajasja Ljubetič, Natasha Edman, George Ueda, Cameron M Chow, Max Johnson, Amin Addetia, Mary Jane Navarro, Nuttada Panpradist, Michael Gale, Benjamin S Freedman, Jesse D Bloom, Hannele Ruohola-Baker, Sean P J Whelan, Lance Stewart, Michael S Diamond, David Veesler, Michael C Jewett, David Baker
New variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue to arise and prolong the coronavirus disease 2019 (COVID-19) pandemic. Here we used a cell-free expression workflow to rapidly screen and optimize constructs containing multiple computationally designed miniprotein inhibitors of SARS-CoV-2. We found the broadest efficacy with a homo-trimeric version of the 75-residue angiotensin converting enzyme 2 (ACE2) mimic AHB2 (TRI2-2) designed to geometrically match the trimeric spike architecture...
April 12, 2022: Science Translational Medicine
#16
JOURNAL ARTICLE
Eelco F M Wijdicks
No abstract text is available yet for this article.
February 8, 2022: Neurocritical Care
#17
Rabia Muddassir, Abdelrahman Idris, Noura Alshareef, Ghaidaa Khouj, Rimaz Alassiri
Coronavirus disease 2019 (COVID-19) pandemic is caused by the severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) and since the outbreak, many neurological features and syndromes are reported with this multi-organ viral infection. Lance-Adams syndrome (LAS) also referred to as chronic post hypoxic myoclonus is defined as action myoclonus which can occur as generalized, focal, or multifocal repeated myoclonic motor movements which involve the face, trunk, or extremities and it is one of the neurological complications that are related to COVID-19 infection...
December 2021: Curēus
#18
JOURNAL ARTICLE
Kassandra Stubblefield, Salman Zahoor, Hasan Sonmezturk, Kevin Haas, Danielle Mattingly, Bassel Abou-Khalil
No abstract text is available yet for this article.
October 1, 2021: Epileptic Disorders: International Epilepsy Journal with Videotape
#19
JOURNAL ARTICLE
Adam Shugan
Lance-Adams syndrome (LAS) was first described in 1963 by Lance and Adams, who cited four cases of posthypoxic action myoclonus. Since then, less than 150 cases have been reported world-wide. LAS differs from acute posthypoxic myoclonus, which usually occurs within twelve hours of the anoxic event, with the patient remaining in a deep coma with an extremely poor prognosis. Patients with LAS retain neurological function and develop myoclonus days or weeks after their hypoxic event. This report describes the case of a 64-year-old male who developed LAS following cardiac arrest...
September 2021: Neurodiagnostic Journal
#20
Masahito Katsuki, Norio Narita, Iori Yasuda, Teiji Tominaga
Lance-Adams syndrome (LAS) is chronic post-hypoxic myoclonus after a hypoxic encephalopathy. Recently, the report on LAS in the chronic term treated by perampanel (PER) is increasing. However, PER's efficacy in the "acute term" has not been reported. Here, we report an LAS patient who markedly improved when PER was added to his existing treatment regime in the acute term. The 65-year-old patient presented with a return of spontaneous circulation after cardiopulmonary arrest. He developed myoclonus on the admission day, and it led to tonic-clonic convulsion...
March 8, 2021: Curēus
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