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https://www.readbyqxmd.com/read/28329257/lessons-learned-at-the-epicenter-of-brazil-s-congenital-zika-epidemic-evidence-from-87-confirmed-cases
#1
Jucille do Amaral Meneses, Ana Catarina Ishigami, Luisa Medeiros de Mello, Luciano Lira de Albuquerque, Carlos Alexandre Antunes de Brito, Marli Tenório Cordeiro, Lindomar José Pena
Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV specific antibodies and sera were screened for other congenital infections...
February 24, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#2
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328129/the-phenotypic-spectrum-of-congenital-zika-syndrome
#3
Miguel Del Campo, Ian M L Feitosa, Erlane M Ribeiro, Dafne D G Horovitz, André L S Pessoa, Giovanny V A França, Alfredo García-Alix, Maria J R Doriqui, Hector Y C Wanderley, Maria V T Sanseverino, João I C F Neri, João M Pina-Neto, Emerson S Santos, Islane Verçosa, Mirlene C S P Cernach, Paula F V Medeiros, Saile C Kerbage, André A Silva, Vanessa van der Linden, Celina M T Martelli, Marli T Cordeiro, Rafael Dhalia, Fernanda S L Vianna, Cesar G Victora, Denise P Cavalcanti, Lavinia Schuler-Faccini
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28318499/loss-of-function-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita
#4
Shifeng Xue, Jérôme Maluenda, Florent Marguet, Mohammad Shboul, Loïc Quevarec, Carine Bonnard, Alvin Yu Jin Ng, Sumanty Tohari, Thong Teck Tan, Mung Kei Kong, Kristin G Monaghan, Megan T Cho, Carly E Siskind, Jacinda B Sampson, Carolina Tesi Rocha, Fawaz Alkazaleh, Marie Gonzales, Luc Rigonnot, Sandra Whalen, Marta Gut, Ivo Gut, Martine Bucourt, Byrappa Venkatesh, Annie Laquerrière, Bruno Reversade, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons...
March 8, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28317099/mutations-in-ergic1-cause-arthrogryposis-multiplex-congenita-neuropathic-type
#5
Eyal Reinstein, Valerie Dersinover, Rona Lotan, Meital Gal-Tanhami, Inbal Bulokin Nachman, Eran Eyal, Jaber Lutfi, Nurit Magal, Mordechai Shohat
Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non-progressive joint contractures from birth that involve more than one part of the body. There are various etiologies for AMC including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16 patients affected with AMC neuropathic type, and mapped the locus to a 5.5 cM interval on chromosome 5qter...
March 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28281571/a-de-novo-nonsense-mutation-in-magel2-in-a-patient-initially-diagnosed-as-opitz-c-similarities-between-schaaf-yang-and-opitz-c-syndromes
#6
Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, Sílvia Mort-Farre, Neus Roca-Ayats, Julia Ponomarenko, Luca Cozzuto, Carlos Company, Mattia Bosio, Stephan Ossowski, Magda Montfort, Jochen Hecht, Eduardo F Tizzano, Bru Cormand, Lluïsa Vilageliu, John M Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells
Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different patterns of inheritance and genetic heterogeneity are known in this syndrome. Whole exome and genome sequencing of a 19-year-old girl (P7), initially diagnosed with OTCS, revealed a de novo nonsense mutation, p.Q638*, in the MAGEL2 gene. MAGEL2 is an imprinted, maternally silenced, gene located at 15q11-13, within the Prader-Willi region...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28277061/%C3%AE-granule-biogenesis-from-disease-to-discovery
#7
Chang Hua Chen, Richard W Lo, Denisa Urban, Fred G Pluthero, Walter H A Kahr
Platelets are critical to hemostasis and thrombosis. Upon detecting injury, platelets show a range of responses including the release of protein cargo from α-granules. This cargo is synthesized by platelet precursor megakaryocytes or endocytosed by megakaryocytes and/or platelets. Insights into α-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absent. Studies of Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome identified the first proteins essential to α-granule biogenesis: VPS33B and VPS16B...
March 2017: Platelets
https://www.readbyqxmd.com/read/28264711/findings-phenotypes-and-outcomes-in-freeman-sheldon-and-sheldon-hall-syndromes-and-distal-arthrogryposis-types-1-and-3-protocol-for-systematic-review-and-patient-level-data-meta-analysis
#8
Mikaela I Poling, José Andrés Morales Corado, Robert L Chamberlain
BACKGROUND: Freeman-Sheldon and Sheldon-Hall syndromes (FSS and SHS) and distal arthrogryposis types 1 and 3 (DA1 and DA3) are rare, often confused, congenital syndromes. Few studies exist. With reported diagnosis unreliable, it would be scientifically inappropriate to consider articles describing FSS, SHS, DA1, or DA3, unless diagnoses were independently verified, rendering conventional systematic review and meta-analysis methodology inappropriate and necessitating patient-level data analysis (PROSPERO: CRD42015024740)...
March 6, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28254648/identification-of-a-novel-cntnap1-mutation-causing-arthrogryposis-multiplex-congenita-with-cerebral-and-cerebellar-atrophy
#9
Shenela Lakhani, Ryan Doan, Mariam Almureikhi, Jennifer N Partlow, Muna Al Saffar, Mahmoud F Elsaid, Nada Alaaraj, A James Barkovich, Christopher A Walsh, Tawfeg Ben-Omran
Arthrogryposis multiplex congenital, the occurrence of multiple joint contractures at birth, can in some cases be accompanied by insufficient myelination of peripheral nerves, muscular hypotonia, reduced tendon reflexes, and respiratory insufficiency. Recently mutations in the CASPR/CNTN1 complex have been associated with similar severe phenotypes and CNTNAP1 gene mutations, causing loss of the CASPR protein, were shown to cause severe, prenatal onset arthrogryposis multiplex congenita in four unrelated families...
February 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28231241/hydrocephalus-and-arthrogryposis-in-an-immunocompetent-mouse-model-of-zika-teratogeny-a-developmental-study
#10
Jose Xavier-Neto, Murilo Carvalho, Bruno Dos Santos Pascoalino, Alisson Campos Cardoso, Ângela Maria Sousa Costa, Ana Helena Macedo Pereira, Luana Nunes Santos, Ângela Saito, Rafael Elias Marques, Juliana Helena Costa Smetana, Silvio Roberto Consonni, Carla Bandeira, Vivian Vasconcelos Costa, Marcio Chaim Bajgelman, Paulo Sérgio Lopes de Oliveira, Marli Tenorio Cordeiro, Laura Helena Vega Gonzales Gil, Bianca Alves Pauletti, Daniela Campos Granato, Adriana Franco Paes Leme, Lucio Freitas-Junior, Carolina Borsoi Moraes Holanda de Freitas, Mauro Martins Teixeira, Estela Bevilacqua, Kleber Franchini
The teratogenic mechanisms triggered by ZIKV are still obscure due to the lack of a suitable animal model. Here we present a mouse model of developmental disruption induced by ZIKV hematogenic infection. The model utilizes immunocompetent animals from wild-type FVB/NJ and C57BL/6J strains, providing a better analogy to the human condition than approaches involving immunodeficient, genetically modified animals, or direct ZIKV injection into the brain. When injected via the jugular vein into the blood of pregnant females harboring conceptuses from early gastrulation to organogenesis stages, akin to the human second and fifth week of pregnancy, ZIKV infects maternal tissues, placentas and embryos/fetuses...
February 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28213879/arthrogryposis-multiplex-congenita-classification-diagnosis-perioperative-care-and-anesthesia
#11
REVIEW
Lulu Ma, Xuerong Yu
Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandibular joint mobility. Although the etiology of AMC is unclear, any factor that decreases fetal movement is responsible for AMC. Thus, accurate diagnosis and classification are crucial to the appropriate treatment of AMC. The development of ultrasound technology has enabled prenatal diagnosis. Very early treatment is favorable, and multidisciplinary treatment is necessary to improve the function of AMC patients...
February 17, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28208595/congenital-malformations-in-river-buffalo-bubalus-bubalis
#12
REVIEW
Sara Albarella, Francesca Ciotola, Emanuele D'Anza, Angelo Coletta, Luigi Zicarelli, Vincenzo Peretti
The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival...
February 10, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#13
Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K Lee, Abraham O Samson, Stanley M Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12(A123.7) cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28177969/zika-virus-practical-information-for-the-plastic-and-reconstructive-surgeon
#14
Nicholas A Calotta, Justin M Sacks, Anand R Kumar
The ongoing Zika virus outbreak in South, Central, and, most recently, North America has become a global health care emergency. Originally thought to be a benign, self-limiting viral syndrome, the newest epidemic has provided convincing evidence that maternal Zika virus infection can lead to neonatal malformations, the so-called congenital Zika syndrome. The alarming number of microcephalic neonates being born during the current outbreak is most notable, though several other anomalies, such as arthrogryposis, redundant scalp tissue, and cranial collapse, have been reported...
February 8, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28099287/anesthetic-outcomes-of-children-with-arthrogryposis-syndromes-no-evidence-of-hyperthermia
#15
Stephen J Gleich, Michael Tien, Darrell R Schroeder, Andrew C Hanson, Randall Flick, Michael E Nemergut
BACKGROUND: Arthrogryposis syndromes are a heterogeneous group of disorders characterized by congenital joint contractures often requiring multiple surgeries during childhood to address skeletal and visceral abnormalities. Previous reports suggest that these children have increased perioperative risk, including hypermetabolic events discrete from malignant hyperthermia, difficult airway management, isolated hyperthermia, and difficult IV line placement. We sought to compare children with arthrogryposis multiplex congenita (AMC) versus the less severe, distal arthrogryposis syndromes (DAS) and to evaluate possible intraoperative hyperthermia of patients with AMC...
March 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28075028/a-recognizable-type-of-syndromic-short-stature-with-arthrogryposis-caused-by-bi-allelic-sema3a-loss-of-function-variants
#16
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Thomas Müller, Andreas R Janecke
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8-year-old boy with the same pattern of MCA...
January 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#17
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
March 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28070244/assessment-of-fetus-during-second-trimester-ultrasonography-using-hdlive-software-what-is-its-real-application-in-the-obstetrics-clinical-practice
#18
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/28060234/reorientational-proximal-femoral-osteotomies-for-arthrogrypotic-hip-contractures
#19
Harold Jacob Pieter van Bosse, Roger E Saldana
BACKGROUND: Severe hip contractures in arthrogrypsosis are multiplanar, which can preclude or can greatly complicate sitting and ambulation. The reorientational osteotomy at the intertrochanteric level preserves preoperative hip motion but moves it to a more functional domain. We retrospectively compared preoperative and postoperative hip motion and evaluated the ambulatory abilities of patients who underwent the procedure. METHODS: Since 2008, 65 patients with arthrogryposis had 119 reorientational proximal femoral osteotomies with a minimum follow-up of 2 years...
January 4, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28040389/homozygous-truncating-mutation-in-prenatally-expressed-skeletal-isoform-of-ttn-gene-results-in-arthrogryposis-multiplex-congenita-and-myopathy-without-cardiac-involvement
#20
Ana Fernández-Marmiesse, M Carmen Carrascosa-Romero, Blanca Alfaro Ponce, Andres Nascimento, Carlos Ortez, Norma Romero, Lourdes Palacios, Cecilia Jimenez-Mallebrera, Cristina Jou, Sofía Gouveia, María L Couce
We report the case of a newborn with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement in which, using a customized targeted next-generation sequencing assay for 64 myopathy-associated genes, we detected a novel homozygous truncating mutation, c.38661_38665del, in exon 197 of the TTN gene that is expressed only in the fetal skeletal isoform. Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2. Muscle pathology showed fibers with core-like areas devoid of oxidative staining and cytoplasmic bodies...
November 11, 2016: Neuromuscular Disorders: NMD
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