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https://www.readbyqxmd.com/read/29775129/health-related-quality-of-life-and-orthosis-use-in-a-swedish-population-with-arthrogryposis
#1
Marie Eriksson, Leena Jylli, Li Villard, Anna-Karin Kroksmark, Åsa Bartonek
BACKGROUND: Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking. OBJECTIVES: To describe health-related quality of life in children with arthrogryposis multiplex congenita and satisfaction with orthoses in those using orthoses. STUDY DESIGN: Cross-sectional study. METHODS: A total of 33 children with arthrogryposis multiplex congenita participated in the study...
May 1, 2018: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/29691077/camptodactyly-treatment-for-the-lesser-digits
#2
REVIEW
Lindley B Wall, Marybeth Ezaki, Charles A Goldfarb
Camptodactyly of the lesser digits is commonly seen in patients with arthrogryposis. The flexed posture of the digit can be functionally limiting and necessitate surgical treatment to improve grasp function. In digits with normal bony anatomy, a lateral stiletto-shaped transposition flap combined with flexor digitorum superficialis tendon release, can improve finger deformity and function.
April 21, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29663639/a-novel-ecel1-mutation-expands-the-phenotype-of-distal-arthrogryposis-multiplex-congenita-type-5d-to-include-pretibial-vertical-skin-creases
#3
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29626181/disability-in-adults-with-arthrogryposis-is-severe-partly-invisible-and-varies-by-genotype
#4
Shenhao Dai, Klaus Dieterich, Marie Jaeger, Bernard Wuyam, Pierre-Simon Jouk, Dominic Pérennou
OBJECTIVE: To understand the disability of adults with arthrogryposis multiplex congenita (AMC), a rare disease spectrum characterized by at least 2 joint contractures at birth in different body areas. METHODS: This is a retrospective analysis of data for unselected persons with AMC referred to the French center for adults with AMC from 2010 to 2016. All underwent a pluriprofessional systematic and comprehensive investigation of deficits, activity limitation, and participation restriction according to the International Classification of Functioning, Disability and Health and genetic analysis when indicated...
April 6, 2018: Neurology
https://www.readbyqxmd.com/read/29625835/a-myh3-mutation-identified-for-the-first-time-in-a-chinese-family-with-sheldon-hall-syndrome-da2b
#5
Yang Xu, Qing-Lin Kang, Zhen-Lin Zhang
Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2B (DA2B). Sheldon-Hall syndrome is caused by mutations in the TPM2, TNNI2, TNNT3 or MYH3 gene and characterized by ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth. We investigated a Chinese family with multiple members who clinically presented with distal arthrogryposis of the hands. In total, 261 subjects including one proband and ten family members from the non-consanguineous Chinese family and 250 healthy volunteers were included and had their genomic DNA extracted...
March 8, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29599419/chitayat-hall-and-schaaf-yang-syndromes-a-common-aetiology-expanding-the-phenotype-of-magel2-related-disorders
#6
Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Vanessa Londero, Sharon Moalem, Jennifer Orr, Francis Rossignol, Fatima Daniela Lopes, Julie Gauthier, Nathalie Alos, Rosemarie Rupps, Margaret McKinnon, Shelin Adam, Malgorzata J M Nowaczyk, Susan Walker, Stephen W Scherer, Christina Nassif, Fadi F Hamdan, Cheri L Deal, Jean-François Soucy, Rosanna Weksberg, Patrick Macleod, Jacques L Michaud, David Chitayat
BACKGROUND: Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. METHODS AND RESULTS: We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients...
March 29, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29581933/cervical-stenosis-in-adult-arthrogryposis-a-case-report-and-review-of-the-literature
#7
Allen L Ho, Jyodi Mohole, Eric S Sussman, Arjun V Pendharkar, Harminder Singh
Arthrogryposis multiplex congenita is a rare, nonprogressive congenital disorder that describes a constellation of conditions characterized by multiple joint contractures. Spinal pathology and deformity are common; however, the majority of the literature on arthrogryposis is focused on pediatric management. There exist very few reports on long-term outcomes and management of adults with arthrogryposis. We present a case of cervical spinal stenosis in an adult female with arthrogryposis that underwent posterior cervical decompression and fusion...
January 2018: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/29575618/a-homozygous-ttn-gene-variant-associated-with-lethal-congenital-contracture-syndrome
#8
Elena Chervinsky, Morad Khayat, Sofia Soltsman, Hatem Habiballa, Orly Elpeleg, Stavit Shalev
Pathogenic variants in the TTN gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known as titinopathies. We evaluated a consanguineous family multiple members affected with a lethal congenital contracture syndrome. Using exome sequencing, we identified a homozygous c.36122delC (p. P12041Lfs*20) variant in exon 167 in the fetal IC isoform of TTN. The finding expands the phenotypes that can be caused by pathogenic variants TTN, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29519522/pathogenicity-and-teratogenicity-of-schmallenberg-virus-and-akabane-virus-in-experimentally-infected-chicken-embryos
#9
Áine B Collins, John F Mee, Peter D Kirkland
Schmallenberg virus (SBV) and Akabane virus (AKAV) are teratogenic Simbu serogroup Orthobunyaviruses. Embryonated chicken egg models (ECE) have been used to study the pathogenicity and teratogenicity of Simbu viruses previously, however to date no such studies have been reported for SBV. Hence, the aims of this study were to investigate if ECE are susceptible to experimental SBV infection, and to evaluate the pathogenicity and teratogenicity of SBV and AKAV in ECE models. Two studies were conducted. In Study A, SBV (106...
March 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/29501612/exome-sequencing-reveals-blended-phenotype-of-double-heterozygous-fbn1-and-fbn2-variants-in-a-fetus
#10
Shagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, Ashwin Dalal
We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. The de-novo status of these variants is not confirmed as parental genotypes could not be ascertained. A comparison of the post-mortem findings of the fetus with reported phenotypes of Beals and Marfan syndromes indicated overlapping clinical features suggestive of a blended phenotype...
March 1, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29462068/risk-factors-of-impaired-pulmonary-function-in-arthrogryposis-multiplex-congenital-patients-with-concomitant-scoliosis-a-comparison-with-adolescent-idiopathic-scoliosis
#11
Yetian Li, Fei Sheng, Chao Xia, Leilei Xu, Yong Qiu, Zezhang Zhu
STUDY DESIGN: A retrospective study. OBJECTIVE: To investigate the severity of pulmonary function impairment for arthrogryposis multiplex congenital (AMC) patients with concomitant scoliosis and to determine risk factors associated with the impaired pulmonary function in these patients. SUMMARY OF BACKGROUND DATA: AMC patients are generally believed to have impaired pulmonary function. However, the severity of respiratory morbidity and the associated risk factors have not been reported...
April 15, 2018: Spine
https://www.readbyqxmd.com/read/29432562/loss-of-function-and-gain-of-function-mutations-in-ppp3ca-cause-two-distinct-disorders
#12
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto
Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA). Notably, mutations were observed in different functional domains: in addition to three catalytic domain mutations, two missense mutations were found in the auto-inhibitory (AI) domain. One additional frameshift insertion that caused premature termination was also identified...
April 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29409756/vps33b-and-vipar-are-essential-for-epidermal-lamellar-body-biogenesis-and-function
#13
Clare Rogerson, Paul Gissen
Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis. Roles for VPS33B and VIPAR have been reported in lysosome-related organelle biogenesis, integrin recycling, collagen homeostasis and maintenance of cell polarity. Mouse knockouts of Vps33b or Vipas39 are good models of ARC syndrome and develop an ichthyotic phenotype. We demonstrate that the skin manifestations in Vps33b and Vipar deficient mice are histologically similar to those of patients with ARC syndrome...
May 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29390050/a-homozygous-atad1-mutation-impairs-postsynaptic-ampa-receptor-trafficking-and-causes-a-lethal-encephalopathy
#14
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I Rees, Seo-Kyung Chung, Henry Houlden, Alain Verloes, Ted M Dawson, Valina L Dawson, Lionel Van Maldergem, Kerstin Kutsche
Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in the function and integrity of mitochondria and peroxisomes. Postsynaptically, Thorase controls the internalization of excitatory, glutamatergic AMPA receptors by disassembling complexes between the AMPA receptor-binding protein, GRIP1, and the AMPA receptor subunit GluA2...
January 30, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29359444/three-patients-with-schaaf-yang-syndrome-exhibiting-arthrogryposis-and-endocrinological-abnormalities
#15
Takuji Enya, Nobuhiko Okamoto, Yoshinori Iba, Tomoki Miyazawa, Mitsuru Okada, Shinobu Ida, Takuya Naruto, Issei Imoto, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto, Keisuke Sugimoto, Tsukasa Takemura
MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole-exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous)...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#16
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
March 1, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29316359/whole-exome-sequencing-diagnoses-the-first-fetal-case-of-bainbridge-ropers-syndrome-presenting-as-pontocerebellar-hypoplasia-type-1
#17
Séverine Bacrot, Charlotte Mechler, Naima Talhi, Dominique Martin-Coignard, Philippe Roth, Caroline Michot, Amale Ichkou, Olivier Alibeu, Patrick Nitschke, Sophie Thomas, Michel Vekemans, Férechté Razavi, Lucile Boutaud, Tania Attie-Bitach
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE: We report here the first case of prenatal BRPS in a fetus presenting with arthrogryposis on ultrasound and for pontocerebellar hypoplasia type 1 (PCH1) following neuropathological examination. The diagnosis was done by whole exome sequencing that identified a novel de novo ASXL3 mutation...
April 3, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29314551/a-novel-pathogenic-myh3-mutation-in-a-child-with-sheldon-hall-syndrome-and-vertebral-fusions
#18
Marcello Scala, Andrea Accogli, Elisa De Grandis, Anna Allegri, Christoph P Bagowski, Moneef Shoukier, Mohamad Maghnie, Valeria Capra
Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#19
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29274205/arthrogryposis-and-pterygia-as-lethal-end-manifestations-of-genetically-defined-congenital-myopathies
#20
Atif A Ahmed, Priya Skaria, Nicole P Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol Saunders
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA...
February 2018: American Journal of Medical Genetics. Part A
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