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https://www.readbyqxmd.com/read/28544027/a-novel-vps33b-mutation-in-a-patient-with-arthrogryposis-renal-dysfunction-cholestasis-syndrome
#1
Amanda T Moon, Theresa Christensen, Jenna L Streicher, Leslie Castelo-Soccio
We report a case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States.
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28539443/heparan-sulfate-proteoglycan-is-an-important-attachment-factor-for-cell-entry-of-akabane-and-schmallenberg-viruses
#2
Shin Murakami, Akiko Takenaka-Uema, Tomoya Kobayashi, Kentaro Kato, Masayuki Shimojima, Massimo Palmarini, Taisuke Horimoto
Akabane (AKAV) and Schmallenberg (SBV) viruses are Orthobunyavirus transmitted by arthropod vectors with a broad cellular tropism in vitro as well as in vivo Both AKAV and SBV cause arthrogryposis-hydranencephaly syndrome in ruminants. The main cellular receptor and attachment factor for entry of these orthobunyaviruses are unknown. Here, we found that AKAV and SBV infections were inhibited by the addition of heparin or enzymatic removal of cell surface heparan sulfates. To confirm this finding, we prepared heparan sulfate proteoglycan (HSPG)-knockout (KO) cells by using a CRISPR/Cas9 system and measured the binding quantities of these viruses to cell surfaces...
May 24, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#3
Philip K McClure, Eray Kilinc, Scott Oishi, Anthony I Riccio, Lori A Karol
BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015...
May 19, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28518043/congenital-malformations-of-calves-infected-with-shamonda-virus-southern-japan
#4
Yoshimasa Hirashima, Shoei Kitahara, Tomoko Kato, Hiroaki Shirafuji, Shogo Tanaka, Tohru Yanase
In 2015 and 2016, we observed 15 malformed calves that were exposed to intrauterine infection with Shamonda virus, a Simbu serogroup orthobunyavirus, in Japan. Characteristic manifestations were arthrogryposis and gross lesions in the central nervous system. Our results indicate that this arbovirus should be considered a teratogenic virus in ruminants.
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28516161/biallelic-tor1a-variants-in-an-infant-with-severe-arthrogryposis
#5
Sara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H Scharer
No abstract text is available yet for this article.
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28495245/massive-parallel-sequencing-identifies-rapsn-and-pdha1-mutations-causing-fetal-akinesia-deformation-sequence
#6
Lore Winters, Evelien Van Hoof, Luc De Catte, Kris Van Den Bogaert, Thomy de Ravel, Liesbeth De Waele, Anniek Corveleyn, Jeroen Breckpot
INTRODUCTION: Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting. METHODS: An in-house developed disease-associated gene panel was conducted in two unrelated fetuses with FADS...
April 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28474485/evidence-of-extensive-renewed-schmallenberg-virus-circulation-in-belgium-during-summer-of-2016-increase-in-arthrogryposis-hydranencephaly-cases-expected
#7
C Sohier, I Deblauwe, T Van Loo, J-B Hanon, A B Cay, N De Regge
A seroprevalence study carried out between June and September 2016 in the Belgian sheep population showed a significant increase in overall (from 25% to 62%) and between-herd (from 60% to 96%) seroprevalence against Schmallenberg virus (SBV) during this period, indicating the most extensive recirculation of SBV since its original emergence in 2011. SBV recirculation was confirmed by the detection of SBV RNA-positive Culicoides obsoletus complex midges collected in the region of Antwerp in August 2016, reaching a minimum infection rate of 3%...
May 4, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28459414/postmortem-findings-for-7-neonates-with-congenital-zika-virus-infection
#8
Anastácio Q Sousa, Diane I M Cavalcante, Luciano M Franco, Fernanda M C Araújo, Emília T Sousa, José Telmo Valença-Junior, Dionne B Rolim, Maria E L Melo, Pedro D T Sindeaux, Marialva T F Araújo, Richard D Pearson, Mary E Wilson, Margarida M L Pompeu
Postmortem examination of 7 neonates with congenital Zika virus infection in Brazil revealed microcephaly, ventriculomegaly, dystrophic calcifications, and severe cortical neuronal depletion in all and arthrogryposis in 6. Other findings were leptomeningeal and brain parenchymal inflammation and pulmonary hypoplasia and lymphocytic infiltration in liver and lungs. Findings confirmed virus neurotropism and multiple organ infection.
July 15, 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28458984/segmental-humeral-reconstruction-with-a-pedicled-radius-bone-flap-in-congenital-amyoplasia
#9
Pedro C Cavadas, Alessandro Thione
The clinical case of a patient with a segmental humeral defect, in the context of an arthrogryposis congenita multiplex and morbid obesity, reconstructed with a pedicled segmental radial bone flap is reported. The use of the pedicled vascularized diaphyseal radial bone flap may be a useful technique for humerus reconstruction in patients with contraindication for microvascular bone transfers and an already injured or severely handicapped upper limb.
March 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28413694/first-neonatal-demise-with-travel-associated-zika-virus-infection-in-the-united-states-of-america
#10
Nikolaos Zacharias, Janice Whitty, Sarah Noblin, Sophia Tsakiri, Jose Garcia, Michael Covinsky, Meenakshi Bhattacharjee, David Saulino, Nina Tatevian, Sean Blackwell
Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation. Fetal Dandy-Walker malformation, asymmetric cerebral ventriculomegaly, single umbilical artery, hypoechoic fetal knee, dorsal foot edema, and mild polyhydramnios were noted upon initial screening prenatal sonography at 26 weeks...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28389082/distal-humerus-external-rotation-osteotomy-for-hand-position-in-arthrogryposis
#11
Lindley B Wall, Valeri Calhoun, Summer Roberts, Charles A Goldfarb
PURPOSE: In the amyoplasia type of arthrogryposis, a reverse pronated grasp pattern is often seen. We hypothesized that repositioning the hands, through distal humerus external rotation osteotomies (DHO), would allow for palm-to-palm grasp without arm cross-over and would improve function and parent/patient satisfaction. METHODS: The medical records of all patients treated surgically for arthrogryposis were reviewed at the Shriners Hospital for Children, St. Louis, MO...
April 4, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28377974/an-arthrogrypotic-medical-doctor-with-cervical-kyphosis-and-thoracic-lordoscoliosis
#12
Manouchehr Safdarian, Mahdi Safdarian
Management of spinal deformities in a patient with arthrogryposis can be challenging for spine surgeons. The literature about the accompaniment of scoliosis; the most common spine deformity reported in arthrogryposis, is still poor. Moreover, the development of cervical kyphosis and thoracic lordoscoliosis in a patient with arthrogryposis is much rare. This paper reports a 26-year-old medical doctor with arthrogryposis who had underwent thoracic lordoscoliosis surgery about ten years ago with T6-L1 internal rods and is now presented with cervical kyphosis and C3-C4 cord stenosis, which made him a candidate for cervical cord decompression surgery...
June 2017: Bone Reports
https://www.readbyqxmd.com/read/28374968/long-term-functional-and-mobility-outcomes-for-individuals-with-arthrogryposis-multiplex-congenita
#13
Hirmand Nouraei, Bonita Sawatzky, Megan MacGillivray, Judith Hall
Arthrogryposis multiplex congenita (AMC) is a birth defect that involves congenital joint contractures in two or more joints including the limbs, spine, and jaw. The purpose of our study was to identify long-term outcomes of adults with AMC. We recruited 177 participants from over 15 countries, making this the largest international study of adults with AMC. Participants provided demographic information including living situation and mobility and completed two standardized outcome measures, of quality of life and physical activity, using an online survey format...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28374019/cntnap1-mutations-cause-cns-hypomyelination-and-neuropathy-with-or-without-arthrogryposis
#14
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls
OBJECTIVE: To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS: In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28364011/spectrum-of-spinal-cord-spinal-root-and-brain-mri-abnormalities-in-congenital-zika-syndrome-with-and-without-arthrogryposis
#15
M F V V Aragao, A M Brainer-Lima, A C Holanda, V van der Linden, L Vasco Aragão, M L M Silva, C Sarteschi, N C L Petribu, M M Valença
BACKGROUND AND PURPOSE: Arthrogryposis is among the malformations of congenital Zika syndrome. Similar to the brain, there might exist a spectrum of spinal cord abnormalities. The purpose of this study was to explore and describe in detail the MR imaging features found in the spinal cords, nerve roots, and brains of children with congenital Zika syndrome with and without arthrogryposis. MATERIALS AND METHODS: Twelve infants with congenital Zika syndrome (4 with arthrogryposis and 8 without) who had undergone brain and spinal cord MR imaging were retrospectively selected...
March 31, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#16
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28344185/arthrogryposis-as-neonatal-presentation-of-loeys-dietz-syndrome-due-to-a-novel-tgfbr2-mutation
#17
Irene Valenzuela, Paula Fernández-Alvarez, Francina Munell, Angel Sanchez-Montanez, Gemma Giralt, Teresa Vendrell, Eduardo F Tizzano
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita. Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene...
June 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28336317/lethal-multiple-pterygium-syndrome-a-severe-phenotype-associated-with-a-novel-mutation-in-the-nebulin-gene
#18
Ebtesam Abdalla, Gianina Ravenscroft, Louay Zayed, Sarah J Beecroft, Nigel G Laing
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and pterygia. The pathogenetic mechanisms of fetal akinesia deformation sequence include neuropathy, muscular disorders, neuromuscular junction disorders, maternal myasthenia gravis, restrictive dermopathy and others...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#19
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28329257/lessons-learned-at-the-epicenter-of-brazil-s-congenital-zika-epidemic-evidence-from-87-confirmed-cases
#20
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...
May 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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