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https://www.readbyqxmd.com/read/29152996/birth-defects-associated-with-congenital-zika-virus-infection-in-mexico
#1
Silvina Noemí Contreras-Capetillo, Nina Valadéz-González, Pablo Manrique-Saide, Rafael Eduardo Carcaño-Castillo, Freddy Pacheco-Tugores, Hirian Alonso Moshe Barrera-Pérez, Doris Pinto-Escalante, Manuel Lliteras-Cardín, José Alfredo Hoil-Parra, José Luis Cáceres-Solís, Norma Pavía-Ruz
Part of the work agenda of international health authorities is to define the clinical spectrum of the congenital Zika syndrome (CZS) in different territories. We describe the clinical variability that gave rise to the suspicion of CZS in 3 newborn patients in the south of Mexico with active transmission of Zika. All of them presented Zika RNA by reverse transcription-polymerase chain reaction and positive antibodies for IgM by enzyme-linked immunosorbent assay. None of the mothers tested positive for active viremia, only one mother had Zika-symptoms and titers of Zika-positive IgM...
November 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/29132416/distinct-functional-consequences-of-ecel1-dine-missense-mutations-in-the-pathogenesis-of-congenital-contracture-disorders
#2
Kenichi Nagata, Mika Takahashi, Sumiko Kiryu-Seo, Hiroshi Kiyama, Takaomi C Saido
Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents), a membrane-bound metalloprotease, has been identified as a gene responsible for distal arthrogryposis (DA). ECEL1-mutated DA is generally characterized by ocular phenotypes in addition to the congenital limb contractures that are common to all DA subtypes. Until now, the consequences of the identified pathogenic mutations have remained incompletely understood because of a lack of detailed phenotypic analyses in relevant mouse models. In this study, we generated a new knock-in mouse strain that carries an ECEL1/DINE pathogenic G607S missense mutation, based on a previous study reporting atypical DA hindlimb phenotypes in two siblings with the mutation...
November 13, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29111139/seroprevalence-of-schmallenberg-virus-in-dairy-cattle-in-ethiopia
#3
Berhanu Sibhat, Gelagay Ayelet, Endrias Zewdu Gebremedhin, Eystein Skjerve, Kassahun Asmare
Schmallenberg virus (SBV) is a recently identified member of the genus Orthobunyavirus of the family Bunyaviridae. It is an arbovirus transmitted by different members of Culicoides spp of biting midges. The virus is more recognized for its effect on reproductive disorders in ruminants characterised by abortion, stillbirth and birth of congenitally defective newborns with hydranencephaly-arthrogryposis syndrome. The current study was undertaken with the objectives of exploring the presence of SBV exposure and identification of factors affecting its distribution among dairy cattle in Ethiopia...
October 27, 2017: Acta Tropica
https://www.readbyqxmd.com/read/29107849/teratogenic-bluetongue-and-related-orbivirus-infections-in-pregnant-ruminant-livestock-timing-and-pathogen-genetics-are-critical
#4
REVIEW
N James Maclachlan, Bennie I Osburn
Congenital infections of domestic animals with viruses in several families, including Bunyaviridae, Flaviridae, Parvoviridae, and Reoviridae, are the cause of naturally occurring teratogenic central nervous system and/or musculoskeletal defects (arthrogryposis) in domestic animals. Congenital infections of ruminant livestock with bluetongue virus (BTV) and some related members of the genus Orbivirus (family Reoviridae) have clearly shown the critical role of gestational age at infection in determining outcome...
November 3, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/29098745/prosthodontic-management-of-a-patient-with-moebius-syndrome-a-clinical-report
#5
Ahmed Mahrous, Ghadeer Thalji
Moebius/Mӧbius Syndrome (MS) is an extremely rare congenital disorder characterized by uni- or bilateral palsy of the abducens (VI) and the facial (VII) nerves, causing facial paralysis. Dysfunction of cranial nerves III through XII is common, most often the glossopharyngeal (IX) and hypoglossus (XII). Afflicted individuals seeking prosthodontic care, particularly removable prosthetics, present multiple challenges related to inherent facial and tongue muscle weakness and microstomia. Other extraoral anomalies may include congenital multiple arthrogryposis and malformations of the upper and lower limbs...
November 3, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/29097206/the-reason-for-a-high-ca-2-sensitivity-associated-with-arg91gly-substitution-in-tpm2-gene-is-the-abnormal-behavior-and-high-flexibility-of-tropomyosin-during-the-atpase-cycle
#6
Yurii S Borovikov, Armen O Simonyan, Olga E Karpicheva, Stanislava V Avrova, Nikita A Rysev, Vladimir V Sirenko, Adam Piers, Charles S Redwood
Substitution of Arg for Gly residue in 91th position in β-tropomyosin caused by a point mutation in TPM2 gene is associated with distal arthrogryposis, characterized by a high Ca(2+)-sensitivity of myofilament and contracture syndrome. To understand the mechanisms of this defect, we studied multistep changes in mobility and spatial arrangement of tropomyosin, actin and myosin heads during the ATPase cycle in reconstituted ghost fibres, using the polarized fluorescence microscopy. The mutation was shown to markedly decrease the bending stiffness of β-tropomyosin in the thin filaments...
October 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29089519/characterization-of-an-anti-fetal-achr-monoclonal-antibody-isolated-from-a-myasthenia-gravis-patient
#7
Abhishek Saxena, Jo Stevens, Hakan Cetin, Inga Koneczny, Richard Webster, Konstantinos Lazaridis, Socrates Tzartos, Kathleen Vrolix, Gisela Nogales-Gadea, Barbie Machiels, Peter C Molenaar, Jan Damoiseaux, Marc H De Baets, Katja Simon-Keller, Alexander Marx, Angela Vincent, Mario Losen, Pilar Martinez-Martinez
We report here the sequence and functional characterization of a recombinantly expressed autoantibody (mAb 131) previously isolated from a myasthenia gravis patient by immortalization of thymic B cells using Epstein-Barr virus and TLR9 activation. The antibody is characterized by a high degree of somatic mutations as well as a 6 amino acid insertion within the VHCDR2. The recombinant mAb 131 is specific for the γ-subunit of the fetal AChR to which it bound with sub-nanomolar apparent affinity, and detected the presence of fetal AChR on a number of rhabdomyosarcoma cell lines...
October 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29070483/research-progress-of-myosin-heavy-chain-genes-in-human-genetic-diseases
#8
Yi-Min He, Ming-Min Gu
Myosins constitute a large superfamily proteins, which convert chemical energy, through ATP hydrolysis, to mechanical force for diverse cellular movements, such as cell migration and muscle contraction. The class Ⅱ myosin forms the filaments in muscle and non-muscle cells as a hexameric protein complex, consisting of two myosin heavy chain (MyHC) subunits and two pairs of non-identical light chain subunits. There are several MyHC isoforms encoded by different genes of the MYH family in humans. At present, distinct mutations in different genes of the MYH family are associated with various human genetic diseases...
October 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29065234/improvement-of-refractory-pruritus-after-lipoprotein-apheresis-in-arthrogryposis-renal-failure-cholestasis-syndrome
#9
A Rosales, M Muñoz, A Madrid, S Chocron, J M Hernández, G Ariceta
Accumulation of bile acids can lead to invalidating pruritus in cholestatic patients. Few reports exist on the influence of lipoprotein-apheresis (LA) on plasma level of total bile acids (tBA). We report of significant decrease in tBA levels and drastic improvement of pruritus in a 5-year-old girl with arthrogryposis-renal failure-cholestasis syndrome. We present LA as a suitable rescue treatment option in therapy-refractory cholestasis-associated pruritus, at least as bridge until a long-term solution such as entero-biliary anastomosis or transplantation is possible...
October 24, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29062207/congenital-arthrogryposis-hydranencephaly-syndrome-caused-by-akabane-virus-in-newborn-calves-of-basrah-governorate-iraq
#10
K M Alsaad, H H N Alautaish, M A Y Alamery
AIM: The study was conducted in Basrah, Iraq, to diagnose congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus (AKAV) in calves. MATERIALS AND METHODS: Affected animals (42 calves) are about 2-27 days old from both sexes show signs of arthrogryposis and hydranencephaly. Eight clinically healthy newborn calves were considered as controls. Diagnosis of AKAV was confirmed using a competition enzyme-linked immunosorbent assay test. RESULTS: Results show that all affected calves were found seropositive...
September 2017: Veterinary World
https://www.readbyqxmd.com/read/29053766/tor1a-variants-cause-a-severe-arthrogryposis-with-developmental-delay-strabismus-and-tremor
#11
Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G Laing, Homa Tajsharghi
No abstract text is available yet for this article.
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29046204/-clinical-features-and-vps33b-mutations-in-a-family-affected-by-arthrogryposis-renal-dysfunction-and-cholestasis-syndrome
#12
Da-Gui Huang, Jia-Jia Liu, Li Guo, Yuan-Zong Song
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old female infant was referred to the hospital with the complaint of jaundiced skin and sclera for 45 days and abnormal liver function for 39 days. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined diagnosis...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29033814/a-case-of-aplasia-cutis-congenita-type-vi-bart-syndrome
#13
Yasmin Alfayez, Sahar Alsharif, Adel Santli
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/29016857/biallelic-mutation-of-unc50-encoding-a-protein-involved-in-achr-trafficking-is-responsible-for-arthrogryposis
#14
Emanuela Abiusi, Manuela D'Alessandro, Klaus Dieterich, Loic Quevarec, Sandrina Turczynski, Aurore-Cecile Valfort, Paulette Mezin, Pierre Simon Jouk, Marta Gut, Ivo Gut, Jean Louis Bessereau, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Homozygosity mapping of disease loci combined with whole exome sequencing in a consanguineous family presenting with lethal AMC allowed the identification of a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4) in the index case. To assess the effect of the mutation, an equivalent mutation in the Caenorhabditis elegans orthologous gene was created using CRISPR/Cas9...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969156/patients-with-congenital-limb-anomaly-show-short-telomere-shutdown-of-telomerase-and-deregulated-expression-of-various-telomere-associated-proteins-in-peripheral-blood-mononuclear-cells-a-case-series
#15
Jayitri Mazumdar, Priyanka Chowdhury, Tunisha Bhattacharya, Badal Chandra Mondal, Utpal Ghosh
Congenital limb anomalies are outcome of improper bone formation during embryonic development when cells divide, differentiate with high rate. So, telomerase activity is essential to maintain telomere length for such highly dividing cells. Here, we report four cases of congenital limb anomalies with detailed structures of limbs along with other clinical manifestations of age less than two years. We compared telomere length, expression of telomerase and telomere-associated genes of Peripheral Blood Mononuclear Cells (PBMC) in patient and four age-matched normal individual...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28954562/arthrogryposis-multiplex-congenita-in-utero-radiologic-and-pathologic-findings
#16
Priya Skaria, Amy Dahl, Atif Ahmed
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development...
September 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28932235/zika-virus-congenital-syndrome-experimental-models-and-clinical-aspects
#17
REVIEW
Carolina Manganeli Polonio, Carla Longo de Freitas, Nagela Ghabdan Zanluqui, Jean Pierre Schatzmann Peron
Viral infections have long been the cause of severe diseases to humans, increasing morbidity and mortality rates worldwide, either in rich or poor countries. Yellow fever virus, H1N1 virus, HIV, dengue virus, hepatitis B and C are well known threats to human health, being responsible for many million deaths annually, associated to a huge economic and social cost. In this context, a recently introduced flavivirus in South America, called Zika virus (ZIKV), led the WHO to declare in February 1st 2016 a warning on Public Health Emergency of International Concern (PHEIC)...
2017: Journal of Venomous Animals and Toxins Including Tropical Diseases
https://www.readbyqxmd.com/read/28884921/survival-beyond-the-perinatal-period-expands-the-phenotypes-caused-by-mutations-in-gle1
#18
Edith Said, Jessica X Chong, Maja Hempel, Jonas Denecke, Paul Soler, Tim Strom, Deborah A Nickerson, Christian Kubisch, Michael J Bamshad, Davor Lessel
Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#19
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
December 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28843661/reproductive-losses-caused-by-the-ingestion-of-poincianella-pyramidalis-in-sheep
#20
José Radmácyo G Lopes, José Rômulo S Santos, Márcia A Medeiros, Édipo Moreira Campos, Franklin Riet-Correa, Rosane Maria T Medeiros
Malformations have been observed in sheep and goats in the Brazilian semiarid region in areas where Poincianella pyramidalis is dominant. The objective of this trial was to determine whether Poincianella pyramidalis causes reproductive changes in pregnant sheep. Sixteen non-pregnant sheep were mated with two rams. After confirmation of the pregnancy by ultrasonography on the 18th day after mating, pregnant sheep were randomly divided into four groups (#1, 2, 3, and 4), with four animals each. Sheep received roughage in an amount equivalent to 2% of their body weight, mixed with 0%, 10%, 20% and 40% of dried leaves of P...
November 2017: Toxicon: Official Journal of the International Society on Toxinology
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