Article
Genetics & Heredity
Holger Hengel, Shabab B. Hannan, Sarah Dyack, Sara B. MacKay, Ulrich Schatz, Martin Fleger, Andreas Kurringer, Ghassan Balousha, Zaid Ghanim, Fowzan S. Alkuraya, Hamad Alzaidan, Hessa S. Alsaif, Tadahiro Mitani, Sevcan Bozdogan, Davut Pehlivan, James R. Lupski, Joseph J. Gleeson, Mohammadreza Dehghani, Mohammad Y. Mehrjardi, Elliott H. Sherr, Kendall C. Parks, Emanuela Argilli, Amber Begtrup, Hamid Galehdari, Osama Balousha, Gholamreza Shariati, Neda Mazaheri, Reza A. Malamiri, Alistair T. Pagnamenta, Helen Kingston, Siddharth Banka, Adam Jackson, Mathew Osmond, Angelika Riess, Tobias B. Haack, Thomas Naegele, Stefanie Schuster, Stefan Hauser, Jakob Admard, Nicolas Casadei, Ana Velic, Boris Macek, Stephan Ossowski, Henry Houlden, Reza Maroofian, Ludger Schoels
Summary: Loss-of-function variants in BCAS3 were found to cause a neurodevelopmental disorder, resulting in global developmental delay and various physical abnormalities in affected individuals. The human phenotype, though less severe compared to a mouse model, still highlights the crucial role of BCAS3 in neural tissue development.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Oncology
Ariadna Martin-Blazquez, Angeles Heredero, Gonzalo Aldamiz-Echevarria, Marta Martin-Lorenzo, Gloria Alvarez-Llamas
Summary: Thoracic aortic aneurysm (TAA) develops silently and asymptomatically, usually diagnosed incidentally, and lacks effective drugs and biological markers for early identification. Research aims to define novel markers for TAA and discuss the potential of previously identified molecules for early diagnosis/prognosis.
JOURNAL OF PATHOLOGY
(2021)
Article
Genetics & Heredity
Alban Ziegler, Remi Duclaux-Loras, Celine Revenu, Fabienne Charbit-Henrion, Bernadette Begue, Karine Duroure, Linda Grimaud, Anne Laure Guihot, Valerie Desquiret-Dumas, Mohammed Zarhrate, Nicolas Cagnard, Emmanuel Mas, Anne Breton, Thomas Edouard, Clarisse Billon, Michael Frank, Estelle Colin, Guy Lenaers, Daniel Henrion, Stanislas Lyonnet, Laurence Faivre, Yves Alembik, Anais Philippe, Bruno Moulin, Eyal Reinstein, Shay Tzur, Ruben Attali, George McGillivray, Susan M. White, Lyndon Gallacher, Kerstin Kutsche, Pauline Schneeberger, Katta M. Girisha, Shalini S. Nayak, Lynn Pais, Reza Maroofian, Aboulfazl Rad, Barbara Vona, Ehsan Ghayoor Karimiani, Caroline Lekszas, Thomas Haaf, Ludovic Martin, Frank Ruemmele, Dominique Bonneau, Nadine Cerf-Bensussan, Filippo Del Bene, Marianna Parlato
Summary: This study identified bi-allelic loss-of-function variants in the IPO8 gene in 12 individuals with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, dysmorphic features, and developmental delay. Functional studies in zebrafish demonstrated the critical role of IPO8 in TGF-beta signaling during development, linking it to connective tissue defects.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Martin Broly, Bogdan Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S. Alkuraya, Alberta Leon, Rosa L. E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al-Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al-Mamari, Sze Chern Lim, Lynn S. Pais, Natasha Brown, Saima Riazuddin, Stephane Bezieau, Dragony Fu, Bertrand Isidor, Benjamin Cogne, Mitchell R. O'Connell
Summary: Covalent tRNA modifications have diverse roles in tRNA stability, folding, translation rate and fidelity, and various cellular processes. Mutations in the THUMPDI gene, involved in tRNA N4-acetylcytidine modification, have been linked to intellectual disability. This study presents individuals with rare loss-of-function variants in THUMPDI, showing common features of developmental delay, intellectual deficiency, behavioral abnormalities, facial dysmorphism, and ophthalmological abnormalities. Functional analysis demonstrates that THUMPDI variants result in a loss of tRNA modification, leading to syndromic intellectual disability.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Yang Li, Shijuan Gao, Yingchun Han, Li Song, Yu Kong, Yao Jiao, Shan Huang, Jie Du, Yulin Li
Summary: This study investigated the genetic characteristics of sporadic isolated thoracic aortic aneurysm (iTAA) and revealed the potential role of focal adhesion scaffold genes in the pathogenesis of iTAA. Pathogenic mutations and suspected functional variants were found to be significantly enriched in iTAA patients, with Testin (TES) identified as a potential causal gene. The study also showed that knockdown of focal adhesion scaffold genes like TLN1 and ZYX resulted in decreased contractility of vascular smooth muscle cells in iTAA patients.
CIRCULATION RESEARCH
(2021)
Article
Genetics & Heredity
Eva S. van Walree, Gregor Dombrowsky, Iris E. Jansen, Masa Umicevic Mirkov, Rob Zwart, Aho Ilgun, Dongchuan Guo, Sally-Ann B. Clur, Ahmed S. Amin, Jeanne E. Savage, Allard C. van der Wal, Quinten Waisfisz, Alessandra Maugeri, Anna Wilsdon, Frances A. Bu'Lock, Matthew E. Hurles, Sven Dittrich, Felix Berger, Enrique Audain Martinez, Vincent M. Christoffels, Marc-Philip Hitz, Dianna M. Milewicz, Danielle Posthuma, Hanne Meijers-Heijboer, Alex V. Postma, Inge B. Mathijssen
Summary: The study identified a loss-of-function variant in the HEY2 gene associated with cardiovascular defects, with heterozygous carriers and homozygous patients showing varying degrees of heart diseases.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Sandy Elbitar, Marjolijn Renard, Pauline Arnaud, Nadine Hanna, Marie-Paule Jacob, Dong-Chuan Guo, Ko Tsutsui, Marie-Sylvie Gross, Ketty Kessler, Laurent Tosolini, Vincenzo Dattilo, Sebastien Dupont, Jeremie Jonquet, Maud Langeois, Louise Benarroch, Melodie Aubart, Youmna Ghaleb, Yara Abou Khalil, Mathilde Varret, Petra El Khoury, Benoit Ho-Tin-Noe, Yves Alembik, Sebastien Gaertner, Bertrand Isidor, Laurent Gouya, Olivier Milleron, Kiyotoshi Sekiguchi, Dianna Milewicz, Julie De Backer, Carine Le Goff, Jean-Baptiste Michel, Guillaume Jondeau, Lynn Y. Sakai, Catherine Boileau, Marianne Abifadel
Summary: The study identified five functional variants in THSD4, of which two heterozygous variants resulted in a premature termination codon. These variants led to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Mice with Thsd4 haploinsufficiency showed progressive dilation of the thoracic aorta, highlighting the role of ADAMTSL6 in aortic physiology and TAAD pathogenesis.
GENETICS IN MEDICINE
(2021)
Article
Immunology
Samantha Cooray, Fiona Price-Kuehne, Ying Hong, Ebun Omoyinmi, Alice Burleigh, Kimberly C. Gilmour, Bilal Ahmad, Sangdun Choi, Mohammad W. Bahar, Paul Torpiano, Andrey Gagunashvili, Barbara Jensen, Evangelos Bellos, Vanessa Sancho-Shimizu, Jethro A. Herberg, Kshitij Mankad, Atul Kumar, Marios Kaliakatsos, Austen J. J. Worth, Despina Eleftheriou, Elizabeth Whittaker, Paul A. Brogan
Summary: We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4. This study describes 5 affected patients from 2 unrelated families with compound heterozygous mutations in IRAK4 resulting in severe systemic autoinflammation, massive splenomegaly and severe transfusion dependent anemia and, in 3/5 cases, severe neuroinflammation and seizures. Immunological analysis demonstrated elevated levels of pro-inflammatory cytokines in affected patients.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Summary: MCM10 deficiency results in chronic replication stress, reducing cell viability due to increased genomic instability and telomere erosion. Loss of MCM10 function constrains telomerase activity, potentially leading to a build-up of abnormal replication structures and terminally-arrested replication forks that require processing by MUS81.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Bart Appelhof, Matias Wagner, Julia Hoefele, Anja Heinze, Timo Roser, Margarete Koch-Hogrebe, Stefan D. Roosendaal, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Erin Torti, Henry Houlden, Reza Maroofian, Farrah Rajabi, Heinrich Sticht, Frank Baas, Dagmar Wieczorek, Rami Abou Jamra
Summary: This study describes eight children with Pontocerebellar hypoplasia (PCH) from four unrelated families carrying homozygous variants in the MINPP1 gene. These variants result in either a complete absence of MINPP1, impaired protein folding, destabilization of protein structure or reduction in protein stability, leading to the pathogenesis of the disease. This study presents MINPP1 as a novel autosomal recessive gene associated with PCH.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida' Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova, Xiaoxia Cui, David T. Curiel, Davut Pehlivan, Zeynep Coban Akdemir, Jennifer E. Posey, James R. Lupski, William B. Dobyns, Rolf W. Stottmann, Andrew H. Crosby, Emma L. Baple
Summary: This study reveals that bi-allelic variants of CAMSAP1 cause a clinically recognizable neuronal migration disorder, characterized by craniofacial anomalies, microcephaly, neurodevelopmental delay, visual impairment, and seizures. The findings provide further understanding of the role of CAMSAP1 in neuronal migration and brain development.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Luetke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil L. Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E. Urquhart, William G. Newman, Kay Metcalfe, Stephanie Efthymiou, Reza Maroofian, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Ikhlass Altweijri, Monerah Alsaleh, Sawsan Mohamed Abdullah, Mohammad Al-Owain, Mais Hashem, Henry Houlden, Fowzan S. Alkuraya, Patrick Sips, Gerhard Sengle, Bert Callewaert
Summary: Variants in LTBP1 result in a range of connective tissue and skeletal abnormalities in patients, particularly affecting the crucial processes of skin and bone ECM assembly and homeostasis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Medicine, General & Internal
Ayman Elbadawi, Islam Y. Elgendy, Ernesto Jimenez, Mohmed A. Omer, Hend I. Shahin, Gbolahan O. Ogunbayo, David Paniagua, Hani Jneid
Summary: The study found an increase in hospitalizations for elective thoracic aortic aneurysm repair from 2012 to 2016 with a mortality rate of 2.4%. Hospitalizations for aneurysm-associated acute aortic syndrome also increased during the same period, with higher mortality rates. Elective thoracic aortic aneurysm repair had lower incidence of complications and shorter length of stay compared to aneurysm-associated acute aortic syndrome.
AMERICAN JOURNAL OF MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Irsa S. Hasan, James A. Brown, Derek Serna-Gallegos, Edgar Aranda-Michel, Sarah Yousef, Yisi Wang, Ibrahim Sultan
Summary: This observational study compared outcomes of patients undergoing thoracic endovascular aortic repair (TEVAR) for complicated type B aortic dissection (TBAD) or descending thoracic aortic (DTA) aneurysm using a nationwide readmissions database from 2010 to 2018. The results showed that patients with TBAD had higher rates of in-hospital mortality, postoperative complications, and readmissions compared to patients with DTA. TBAD was independently associated with mortality after adjusting for other variables.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Surgery
Priya B. Patel, Christina L. Marcaccio, Livia E. V. M. de Guerre, Virendra Patel, Grace Wang, Kristina Giles, Marc L. Schermerhorn
Summary: Thoracic endovascular aortic repair (TEVAR) for ruptured thoracic aortic aneurysms is associated with increased perioperative mortality and morbidity compared with intact repair. Chronic kidney disease is a risk factor for the presentation of ruptured aneurysms. Prior aortic aneurysm repair, smoking, and preoperative use of beta-blockers or statins are associated with a lower odds of rupture.
JOURNAL OF VASCULAR SURGERY
(2022)
Article
Rehabilitation
An De Groef, Ann Hallemans, Nick Gebruers, Jill Meirte, Wim Saeys, Steven Truijen, Vincent Haenen, Charlotte Johnson, Lotte Meert, Lies Peeters, Erik Fransen, Mira Meeus, Lies Durnez
Summary: The study investigates the impact of the COVID-19 lockdown measures on the general health status of patients with chronic health conditions in Belgium. The results show that a significant number of adults and children reported a worsening of their health status during the lockdown. Negative personal factors and unhelpful health behavior were associated with a worse health status.
PHYSIOTHERAPY THEORY AND PRACTICE
(2023)
Article
Clinical Neurology
Ben Gaastra, Sheila Alexander, Mark K. Bakker, Hemant Bhagat, Philippe Bijlenga, Spiros L. Blackburn, Malie K. Collins, Sylvain Dore, Christoph J. Griessenauer, Philipp Hendrix, Eun Pyo Hong, Isabel C. Hostettler, Henry Houlden, Koji IIhara, Jin Pyeong Jeon, Bong Jun Kim, Jiang Li, Sandrine Morel, Paul Nyquist, Dianxu Ren, Ynte M. Ruigrok, David Werring, Will Tapper, Ian Galea, Diederik Bulters
Summary: This study identified 157 genetic variants associated with outcomes after aneurysmal subarachnoid haemorrhage (aSAH) through a genome-wide association study, with one variant in the SPNS2 gene achieving genome-wide significance. Validation of these findings will provide significant insights into the pathophysiology of outcomes after aSAH and may have implications for treatment.
TRANSLATIONAL STROKE RESEARCH
(2023)
Article
Clinical Neurology
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K. Gustavsson, Kristina Ibanez, Regina H. Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna Garcia, Siddharth Sethi, Jonathan W. Brenton, Sonia Garcia-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, Nick Wood, John A. Hardy, Damian Smedley, Henry Houlden, Juan Botia, Mina Ryten
Summary: Using a systems biology approach, Chen et al. found that genes associated with adult- and child-onset ataxia share common characteristics, including a high density of short tandem repeats. Removing the age-of-onset partition and screening for repeat expansions could improve the diagnosis of hereditary ataxia.
Article
Clinical Neurology
Vinojini Vivekanandam, Rebecca Ellmers, Dipa Jayaseelan, Henry Houlden, Roope Mannikko, Michael G. Hanna
Summary: Accurately determining the pathogenicity of uncertain missense genetic variants is a challenge for clinical use of genetic data. In this study, nine in silico predictive tools were compared with cell-based electrophysiology for CLCN1 variants related to myotonia congenita. Most tools showed poor accuracy, with MutationTaster and REVEL having the highest accuracy but poor specificity. Combining methods improved overall performance but lacked specificity. The current predictive tools for this chloride channel are unreliable, and better tools are urgently needed. Improving predictive tool accuracy is a wider challenge for genetic data implementation.
Article
Genetics & Heredity
Eleanor G. Seaby, N. Simon Thomas, Amy Webb, Helen Brittain, Ana Lisa Taylor Tavares, Genomics England Consortium, Diana Baralle, Heidi L. Rehm, Anne O'Donnell-Luria, Sarah Ennis
Summary: This study proposed a screening method based on the LOEUF score to rapidly identify pathogenic variants and new diagnoses. The results showed that this method has high specificity and accuracy, and can identify diagnoses missed by 100KGP analysis.
Article
Genetics & Heredity
Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler, Shima Minaee, Khalid Hama Salih, Mehdi Taherpour, Hassan Birjandi, Behzad Alizadeh, Aso Faeq Salih, Moniba Bijari, Henry Houlden, Alan Michael Pittman, Reza Maroofian, Yahya H. Almashham, Ehsan Ghayoor Karimiani, Juan Pablo Kaski, Eissa Ali Faqeih, Farveh Vakilian, Yalda Jamshidi
Summary: Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Whole exome sequencing and autozygosity mapping in Middle Eastern families with hypertrophic and dilated cardiomyopathy identified variants in TNNI3K, DSP, RBCK1, NRAP, and KLHL24 genes associated with different phenotypes. This expands the mutational spectrum and suggests novel modes of inheritance for recessive cardiomyopathies.
Article
Education, Special
Carmela Scuderi, Sandro Santa Paola, Mariangela Lo Giudice, Francesco Domenico Di Blasi, Stefania Giusto, Giuseppa Di Vita, Rosa Pettinato, Girolamo Aurelio Vitello, Corrado Romano, Serafino Buono, Vincenzo Salpietro, Henry Houlden, Eugenia Borgione
Summary: This study aimed to identify mitochondrial dysfunction due to mtDNA variants in 19 selected subjects with ASD and clinical features of mitochondrial disease. The results showed that 79% of the patients had myogenic or neurogenic changes in the histological examination, 58% had lipid accumulation, mitochondrial proliferation, and COX-deficient fibers. Biochemical investigations revealed impairments involving one or more of the respiratory chain complexes in three patients. Genetic studies found multiple mtDNA deletions in one patient with normal histology and biochemistry, and different mtDNA point mutations in four patients.
RESEARCH IN AUTISM SPECTRUM DISORDERS
(2023)
Article
Clinical Neurology
Hajar Mikaeili, Abdella M. Habib, Charlix Wai-Lok Yeung, Sonia Santana-Varela, Ana P. Luiz, Kseniia Panteleeva, Sana Zuberi, Alkyoni Athanasiou-Fragkouli, Henry Houlden, John N. Wood, Andrei L. Okorokov, James J. Cox
Summary: Mikaeili et al. have identified the molecular basis of pain insensitivity associated with FAAH-OUT. This discovery provides insights into the regulation of pain and offers potential for new gene therapy approaches. Chronic pain affects millions of people worldwide and requires urgent treatment options.
Article
Clinical Neurology
Duncan Street, Edwin Jabbari, Alyssa Costantini, P. Simon Jones, Negin Holland, Timothy Rittman, Marte T. Jensen, Viorica Chelban, Yen Y. Goh, Tong Guo, Amanda J. Heslegrave, Federico Roncaroli, Johannes C. Klein, Olaf Ansorge, Kieren S. J. Allinson, Zane Jaunmuktane, Tamas Revesz, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T. M. Hu, Henry Houlden, Huw Morris, James B. Rowe
Summary: The study compares candidate clinical trial end points in progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome and related disorders. Neuroimaging metrics generally require smaller sample sizes than cognitive and functional measures, but the optimal outcome measures differ by disease type.
Article
Clinical Neurology
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Dario Ortigoza-Escobar, Aisha M. AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesus Martinez-Gonzalez, Kristin M. Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J. Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T. Pascher, Marina Vogel, Angela Abicht, Sebastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M. Strom, Hanns Lochmueller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H. Zackai, Beth A. Keena, Cara M. Skraban, Seth Berger, Erin H. Andrew, Elham Rahimian, Michelle M. Morrow, Ingrid M. Wentzensen, Francisca Millan, Lindsay B. Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M. Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R. Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R. Lupski, Jan Senderek, John Christodoulou, Wendy K. Chung, Rose Goodchild, Amaka C. Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Summary: This study systematically assesses the characteristics of 56 individuals with autosomal-recessive TOR1A-related disease, including their clinical, radiological, and molecular features. The study defines the phenotypic spectrum, identifies core clinical symptoms, and highlights predictors for disease severity and survival.
Article
Developmental Biology
Wahid Ullah, Muhammad Ilyas, Muhammad Tariq, Maria Imdad, Ikram Ullah, Stephanie Efthymiou, Muhammad Faheem, Muhammad Abbas, Muhammad Aamir, Muhammad Nouman, Henry Houlden, S. Y. N. A. P. S. Study Group SYNAPS Study Group
Summary: This study identified the genetic basis of WARBM syndrome in a Pashtun family from Pakistan. MRI analysis showed cerebral atrophy and exome sequencing identified a novel variant in the RAB3GAP1 gene. This rare variant expands the mutation spectrum of Micro syndrome.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2023)
Article
Medicine, General & Internal
Girvan Burnside, Christopher P. Cheyne, Gary Leeming, Michael Humann, Alistair Darby, Mark A. Green, Alexander Crozier, Simon Maskell, Kay O'Halloran, Elena Musi, Elinor Carmi, Naila Khan, Debra Fisher, Rhiannon Corcoran, Jake Dunning, W. John Edmunds, Kukatharmini Tharmaratnam, David M. Hughes, Liora Malki-Epshtein, Malcolm Cook, Ben M. Roberts, Eileen Gallagher, Kate Howell, Meera Chand, Robin Kemp, Matthew Boulter, Tom Fowler, Malcolm G. Semple, Emer Coffey, Matt Ashton, Marta Garcia-Finana, Iain E. Buchan
Summary: This study aimed to understand the transmission risks of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), perceived risks, and the feasibility of risk mitigations during a series of mass cultural events before COVID-19 restrictions were lifted. The results showed that there was minimal SARS-CoV-2 transmission and low perceived risks during these events when prevalence was low and effective risk mitigations were implemented. Audience anxiety was low and enjoyment was high. Rating: 8 out of 10.
JOURNAL OF THE ROYAL SOCIETY OF MEDICINE
(2023)
Article
Neurosciences
Zhongbo Chen, Regina H. Reynolds, Antonio F. Pardinas, Sarah A. Gagliano Taliun, Wouter van Rheenen, Kuang Lin, Aleksey Shatunov, Emil K. Gustavsson, Isabella Fogh, Ashley R. Jones, Wim Robberecht, Philippe Corcia, Adriano Chio, Pamela J. Shaw, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Vincenzo Silani, John A. Hardy, Henry Houlden, Michael J. Owen, Martin R. Turner, Mina Ryten, Ammar Al-Chalabi
Summary: This study found that Neanderthal DNA introgression does not contribute to the genetic risk of neurodegenerative disorders in anatomically-modern humans. Additionally, there is no evidence to support the idea that common variants associated with these disorders are maintained by natural selection. These findings provide valuable insights into the origins of neurodegenerative diseases and address longstanding debates.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Cardiac & Cardiovascular Systems
Hassan Mottaghi Moghaddam Shahri, Mitra Naseri, Shirin Sadat Ghiasi, Elham Bakhtiari, Feisal Rahimpour
Summary: The study aimed to describe the electrocardiographic and echocardiographic findings in dialysis patients and define the correlation between these findings and dialysis modality. The study found that abnormal electrocardiographic findings were common among pediatric dialysis patients, and echocardiographic assessment showed that systolic dysfunction was also common. Additionally, left ventricular volume in diastole and systole was significantly lower in peritoneal dialysis patients compared to hemodialysis patients, suggesting that peritoneal dialysis patients may experience less pressure and volume loads.
PROGRESS IN PEDIATRIC CARDIOLOGY
(2023)
Review
Clinical Neurology
Yee Yen Goh, Emma Saunders, Samantha Pavey, Emma Rushton, Niall Quinn, Henry Houlden, Viorica Chelban
Summary: This article is a practical guide to diagnosing and managing multiple system atrophy (MSA). It explains the newly published Movement Disorders Society Consensus Diagnostic Criteria, which aim to reduce time to diagnosis. The key clinical features of MSA are highlighted to aid in diagnosis. The article also discusses practical symptom management and improving quality of life for people with MSA.
PRACTICAL NEUROLOGY
(2023)