keyword
MENU ▼
Read by QxMD icon Read
search

arthrogryposis

keyword
https://www.readbyqxmd.com/read/28099287/anesthetic-outcomes-of-children-with-arthrogryposis-syndromes-no-evidence-of-hyperthermia
#1
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...
January 17, 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
#2
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
#3
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...
January 10, 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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28017832/autosomal-recessive-keratoderma-ichthyosis-deafness-arkid-syndrome-is-caused-by-vps33b-mutations-affecting-rab-protein-interaction-and-collagen-modification
#7
Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R Janecke, Paul Gissen
Here we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Bi-allelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein which interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen modifying enzyme LH3. Two patients were homozygous for the missense variant p.Gly131Glu, whilst one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with Arthrogryposis Renal dysfunction and Cholestasis syndrome...
December 22, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28017252/microcephaly-and-arthrogryposis-multiplex-congenita-the-full-blown-cns-spectrum-in-newborns-with-zikv-infection
#8
Marcio Leyser, Alexandre Fernandes, Pamela Passos, Camila Pupe, Andre Pc Matta, Marcio Moacyr Vasconcelos, Osvaldo Jm Nascimento
The recent alarming statements concerning the newborn ZIKV-induced microcephaly epidemics in the Northeast of Brazil, released by the Brazilian Ministry of Health, as well as important international health agencies, such as the World Health Organization and the Pan American Health Organization, raised many "why and how" questions so far, that will hopefully be scientifically answered, as more researches in that regard come up in the long term. In this paper, we describe another potentially ZIKV-induced central nervous system and musculoskeletal disorder that has accompanied microcephaly in these children: atrhogryposis multiplex congenita...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28007512/-the-complex-phenotype-of-arc-syndrome-a-new-case
#9
A Giraud, F Ramond, C Cremillieux, R Touraine, H Patural, J-L Stephan
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet...
December 19, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27974811/recessive-piezo2-stop-mutation-causes-distal-arthrogryposis-with-distal-muscle-weakness-scoliosis-and-proprioception-defects
#10
Goknur Haliloglu, Kerstin Becker, Cagri Temucin, Beril Talim, Nalan Küçükşahin, Matthias Pergande, Susanne Motameny, Peter Nürnberg, Ustun Aydingoz, Haluk Topaloglu, Sebahattin Cirak
The genetic work-up of arthrogryposis is challenging due to the diverse clinical and molecular etiologies. We report a-18(3/12)-year-old boy, from a 2nd degree consanguineous family, who presented at 3(6/12) years with hypotonia, distal laxity, contractures, feeding difficulties at birth. He required surgery for progressive scoliosis at 16 years of age, and walked independently since then with an unstable gait and coordination defects. His latest examination at 18 years of age revealed a proprioceptive defect and loss-of-joint position sense in the upper limbs...
December 15, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27941188/arthrogryposis-multiplex-congenital-multidisciplinary-care-including-own-experience
#11
Anna Binkiewicz-Glińska, Jolanta Wierzba, Edyta Szurowska, Katarzyna Ruckeman-Dziurdzińska, Stanisław Bakuła, Michał Sokołów, Anna Reńska
Arthrogryposis multiplex congenital (AMC) is a heterogeneous disorder, characterized by nonprogressive multiple intra-articular contractures, which can be recognized at birth. The prevalence in Europe is estimated at about 1 per 12,000. Etiopathogenesis of arthrogryposis is multifactorial. Symptoms of some forms of arthrogryposis can be found in the clinical presentation of selected genetic disorders, e.g. Pena Shokeir syndrome. Arthrogryposis can also result from environmental factors such as medication, trauma or chronic illness during pregnancy, as well as from oligohydramnios or abnormal structure of the uterus...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27933661/mutations-in-the-neb-gene-cause-fetal-akinesia-arthrogryposis-multiplex-congenita
#12
Michal Feingold-Zadok, David Chitayat, Karen Chong, Marie Injeyan, Patrick Shannon, Daphne Chapmann, Ron Maymon, Nir Pillar, Orit Reish
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, that revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish (AJ) mutation (in relevant patients) was followed by next generation sequencing and Multiplex Ligation-dependent Probe Amplification...
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27912047/biallelic-loss-of-proprioception-related-piezo2-causes-muscular-atrophy-with-perinatal-respiratory-distress-arthrogryposis-and-scoliosis
#13
Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M Girisha, Mary O'Driscoll, Bart Loeys, Brunhilde Wirth
No abstract text is available yet for this article.
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27844033/novel-nalcn-variant-altered-respiratory-and-circadian-rhythm-anesthetic-sensitivity
#14
Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F Hahn, Helge Boman
The sodium leak channel, a Na(+)-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na(+)-leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation in NALCN (c.956C>T; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus-induced, episodic contractures of the limbs and face with associated respiratory distress; distal arthrogryposis; severe axial hypotonia; and severe global developmental delay (CLIFAHDD syndrome)...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27843126/biallelic-loss-of-proprioception-related-piezo2-causes-muscular-atrophy-with-perinatal-respiratory-distress-arthrogryposis-and-scoliosis
#15
Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Olafur Magnusson, Sebahattin Cirak, Katta M Girisha, Mary O'Driscoll, Bart Loeys, Brunhilde Wirth
We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scoliosis, and mild distal sensory involvement. Using whole-exome sequencing, SNPchip-based linkage analysis, DNA microarray, and Sanger sequencing, we identified three independent homozygous frameshift mutations and a homozygous deletion of two exons in PIEZO2 that segregated in all affected individuals of the respective family...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27830345/subperiosteal-new-bone-and-callus-formations-in-neonates-with-femoral-shaft-fracture-at-birth
#16
Takahiro Hosokawa, Yoshitake Yamada, Yumiko Sato, Yutaka Tanami, Eiji Oguma
To compare the timing of subperiosteal new bone formation (SPNBF) and callus formation in femoral shaft fractures that occurred at birth between neonates with and without an underlying disease, we retrospectively evaluated the radiographs of 12 neonates with femoral fractures on birth day. Seven had no underlying disease, 3 had osteogenesis imperfecta, 1 had myotonic dystrophy, and 1 had arthrogryposis. We evaluated the timing of initial SPNBF/soft callus/hard callus formation. In neonates without an underlying disease, SPNBF and callus formation were not detected by day 6 on radiographs; SPNBF/soft callus/hard callus formation was first observed at day 14...
November 9, 2016: Emergency Radiology
https://www.readbyqxmd.com/read/27790376/distal-arthrogryposis-with-variable-clinical-expression-caused-by-tnni2-mutation
#17
Vida Čulić, Noriko Miyake, Sunčana Janković, Davor Petrović, Marko Šimunović, Tomislav Đapić, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27782105/two-novel-variants-in-cntnap1-in-two-siblings-presenting-with-congenital-hypotonia-and-hypomyelinating-neuropathy
#18
Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor
Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27782104/homozygous-syne1-mutation-causes-congenital-onset-of-muscular-weakness-with-distal-arthrogryposis-a-genotype-phenotype-correlation
#19
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber, Wolfgang M Schmidt, Johannes Zschocke, Thomas Müller, Reginald E Bittner, Andreas R Janecke
The exceptionally large SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes different nesprin-1 isoforms, which are differentially expressed in striated muscle and in cerebellar and cerebral neurons. Nesprin-1 isoforms can function in cytoskeletal, nuclear, and vesicle anchoring. SYNE1 variants have been associated with a spectrum of neurological and neuromuscular disease. Homozygosity mapping combined with exome sequencing identified a disease-causing nonsense mutation in the ultimate exon of full-length SYNE1 transcript in an 8-year-old boy with distal arthrogryposis and muscular hypotonia...
October 26, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27773429/loss-of-glycine-transporter-1-causes-a-subtype-of-glycine-encephalopathy-with-arthrogryposis-and-mildly-elevated-cerebrospinal-fluid-glycine
#20
Alina Kurolap, Anja Armbruster, Tova Hershkovitz, Katharina Hauf, Adi Mory, Tamar Paperna, Ewald Hannappel, Galit Tal, Yusif Nijem, Ella Sella, Muhammad Mahajnah, Anat Ilivitzki, Dov Hershkovitz, Nina Ekhilevitch, Hanna Mandel, Volker Eulenburg, Hagit N Baris
Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors. Two transporters, GLYT1 and GLYT2, regulate extracellular glycine concentrations within the CNS. Dysregulation of the extracellular glycine has been associated with hyperekplexia and nonketotic hyperglycinemia. Here, we report four individuals from two families who presented at birth with facial dysmorphism, encephalopathy, arthrogryposis, hypotonia progressing to hypertonicity with startle-like clonus, and respiratory failure...
November 3, 2016: American Journal of Human Genetics
keyword
keyword
33734
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"