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arthrogryposis

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https://www.readbyqxmd.com/read/28716382/combined-elbow-release-and-humeral-rotational-osteotomy-in-arthrogryposis
#1
Rey N Ramirez, Christopher J Richards, Scott H Kozin, Dan A Zlotolow
PURPOSE: The purpose of this study was to determine if a simultaneous posterior elbow release and humeral osteotomy to correct both the elbow extension contracture and the humeral internal rotation contracture in children with arthrogryposis can produce similar results as a posterior elbow release alone. METHODS: This study was a retrospective chart review of consecutive patients with arthrogryposis treated surgically for elbow extension contracture between 2007 and 2014...
July 14, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28715527/screening-criteria-for-ophthalmic-manifestations-of-congenital-zika-virus-infection
#2
Andrea A Zin, Irena Tsui, Julia Rossetto, Zilton Vasconcelos, Kristina Adachi, Stephanie Valderramos, Umme-Aiman Halai, Marcos Vinicius da Silva Pone, Sheila Moura Pone, Joel Carlos Barros Silveira Filho, Mitsue S Aibe, Ana Carolina C da Costa, Olivia A Zin, Rubens Belfort, Patricia Brasil, Karin Nielsen-Saines, Maria Elisabeth Lopes Moreira
Importance: Current guidelines recommend screening eye examinations for infants with microcephaly or laboratory-confirmed Zika virus infection but not for all infants potentially exposed to Zika virus in utero. Objective: To evaluate eye findings in a cohort of infants whose mothers had polymerase chain reaction-confirmed Zika virus infection during pregnancy. Design, Setting, and Participants: In this descriptive case series performed from January 2 through October 30, 2016, infants were examined from birth to 1 year of age by a multidisciplinary medical team, including a pediatric ophthalmologist, from Fernandes Figueira Institute, a Ministry of Health referral center for high-risk pregnancies and infectious diseases in children in Rio de Janeiro, Brazil...
July 17, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28689830/is-bipolar-latissimus-dorsi-transfer-a-reliable-option-to-restore-elbow-flexion-in-children-with-arthrogryposis-a-review-of-13-tendon-transfers
#3
Ramin Zargarbashi, Mohammad Hossein Nabian, Jean-David Werthel, Philippe Valenti
BACKGROUND: Scant data are published about different available therapeutic options for restoration of active elbow flexion in arthrogryposis with varying degrees of improvement. In this retrospective study we evaluated medium-term effects of bipolar latissimus dorsi transfer in patients with arthrogryposis. METHODS: Pedicled latissimus dorsi bipolar muscle transfer was used to restore elbow flexion in 11 patients (13 limbs) with arthrogryposis. Elbow and shoulder range of motions and strength of elbow flexion were measured preoperatively and at the last follow-up...
July 6, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28657126/a-homozygous-i684t-in-gle1-as-a-novel-cause-of-arthrogryposis-and-motor-neuron-loss
#4
Teija Paakkola, Katri Vuopala, Hannaleena Kokkonen, Jaakko Ignatius, Marita Valkama, Jukka S Moilanen, Somayyeh Fahiminiya, Jacek Majewski, Reetta Hinttala, Johanna Uusimaa
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as Lethal congenital contracture syndrome 1 (LCCS1) and Lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. The homozygous FinMajor mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound FinMajor mutation together with p.R569H, p...
June 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#5
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28607845/interbrachial-pinch-by-trapezius-transfer-in-amyoplasia-congenita-a-case-report
#6
Alessandro Thione, Pedro C Cavadas, Alberto Perez Espadero, Carlo G Rubi
Amyoplasia congenita, or "classic distal arthrogryposis," is the most common disorder among the congenital, non-progressive, multiple joint contractural conditions named arthrogryposis. The cause remains unknown, and it occurs sporadically. Abnormal neurological examination indicates that movement in utero was diminished as a result of an abnormality of the central or peripheral nervous system, the motor end plate, or muscle. The absence of central neural pathology indicates the origin in akinetic fetal condition...
May 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28602132/treatment-of-congenital-clasped-thumb-in-arthrogryposis
#7
H Abdel-Ghani, M Mahmoud, A Shaheen, M Abdel-Wahed
We report the result of treatment of 69 complex clasped thumbs in 39 patients with distal arthrogryposis. The mean age at surgery was 30 months. Surgical reconstruction included skin augmentation of the first web using modified dorsal rotation advancement flap (Abdel-Ghani flap), a la Carte release of tight structures of the first web, and chondrodesis of the thumb metacarpophalangeal joint. The mean follow-up was 4 years. We prefer chondrodesis because of the presence of global instability, abnormal joint structure, abnormal articular surfaces, and inefficient muscles for transfer...
June 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28594691/multidisciplinary-clinics
#8
Li Villard, Elisabeth Nordmark-Andersson, Brid Crowley, Volker Straub, Marta Bertoli
More than 400 acquired and genetic diseases are labeled as arthrogryposis. Because of their rarity and complexity coordinated patient management is often lacking. Multidisciplinary clinics are the ideal setting to provide coordinated and comprehensive care to patients with special needs. Two similar experiences of multidisciplinary clinics for the care of patients with arthrogryposis were reported at the Symposium on Arthrogryposis held in Saint Petersburg in September 2014. These clinics are organized to bring together professionals from several disciplines, with the aim to provide patient-centered, comprehensive clinical care, and reduce the burden of multiple medical appointments for the families...
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594690/anaesthesiology-for-children-with-arthrogryposis
#9
Artem N Savenkov, Giorgio E Pajardi, Olga E Agranovich, Dmitry Zabolskiy, Harold J P van Bosse
Patients with arthrogryposis often require anesthesia for surgical procedures. Intubation can be challenging due to lack of visualization. Anesthetic maintenance is fairly routine. Pheripheral blocks are an important adjunct to postoperative pain management.
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594689/treatment-of-scoliosis-associated-with-arthrogryposis-multiplex-congenita
#10
Igor Komolkin, Edvard V Ulrich, Olga E Agranovich, Harold J P van Bosse
Scoliosis in children with arthrogryposis occurs in the minority of patients, but appears early, often present at birth. Curves can progress quickly. Treatment options include spine casting, bracing, expandable implant surgery, and spinal fusion. The goal is to allow as much chest growth and development as possible, along with a resulting well-balanced spine.
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594688/treatment-of-the-lower-extremity-contracture-deformities
#11
Harold J P van Bosse, Eva Pontén, Akifusa Wada, Olga E Agranovich, Bartłomiej Kowalczyk, Ehud Lebel, Hakan Şenaran, Denis V Derevianko, Maxim A Vavilov, Ekaterina V Petrova, Dmitry B Barsukov, Sergey F Batkin, Sharon Eylon, Vladimir M Kenis, Yulia V Stepanova, Dmitry S Buklaev, Guney Yilmaz, Oksana Köse, Svetlana I Trofimova, Fatih Durgut
Lower extremity deformities of patients with arthrogryposis multiplex congenita present a wide spectrum of severity and deformity combinations. Treatment goals range from merely ensuring comfortable seating and shoe wear, to fully independent and active ambulation, but the overarching intention is to help realize the patient's greatest potential for independence and function. Treatment of hip and knee contractures and dislocations has become more interventional, whereas treatment of foot deformities has paradoxically become much less surgical...
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594687/treatment-of-the-upper-extremity-contracture-deformities
#12
Scott N Oishi, Olga Agranovich, Giorgio E Pajardi, Chiara Novelli, Alexey G Baindurashvili, Svetlana I Trofimova, Hisham Abdel-Ghani, Evgenia Kochenova, Giulietta Prosperpio, Andrea Jester, Güney Yilmaz, Hakan Şenaran, Oksana Kose, Lesley Butler
Patients with arthrogryposis multiplex congenita have a characteristic upper extremity resting posture consisting of internal rotation of the shoulders, elbow extension, flexed wrists, thumb-in palm deformities, and variable degrees of finger contractures. Treatment of these patients is aimed at improving independence and performance of activities of daily living. Although each area needs to be assessed independently for the most appropriate surgical procedure, often multiple areas can be addressed at the same operative setting...
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594686/genetics-and-classifications
#13
Judith G Hall, Eva Kimber, Harold J P van Bosse
Arthrogryposis multiplex congenital (AMC) is a descriptive term for a group of conditions that all share the characteristic of congenital contractures. There are an estimated 400 discrete diagnoses that can lead to a child being born with arthrogryposis. The 2 biggest categories of conditions are amyoplasia and distal arthrogryposis, which combined make up ∼50% to 65% of all diagnoses within the AMC subset. Amyoplasia, the most common AMC condition, seems to be a nongenetic syndrome, leading to very characteristic upper and lower limb contractures...
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594685/background-to-the-2nd-international-symposium-on-arthrogryposis
#14
Ruth Lester, Judith G Hall, Eva Pontén, Harold J P van Bosse
Arthrogryposis multiplex congenital is a relatively uncommon condition, with little consensus on treatment. In 2007, the 1st International Symposium on Arthrogryposis was held in Birmingham, United Kingdom, to bring together patients, their families, and a multinational group of health care experts in the field of arthrogryposis, to discuss various aspects of the care of patients with arthrogryposis multiplex congenital. From that meeting, there was a coalescence of thought on diagnosis and classification, a sharing of practices on treatments and their outcomes, and an agreement on future directions...
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28594684/arthrogryposis-introduction
#15
Harold J P van Bosse
No abstract text is available yet for this article.
July 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28584669/freeman-sheldon-syndrome-first-molecularly-confirmed-case-from-sub-saharan-africa
#16
A M Ali, R M Mbwasi, G Kinabo, E-J Kamsteeg, B C Hamel, M C J Dekker
We report a case of a male baby who has characteristic signs of Freeman-Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the different features present in our patient and describe the etiology of the Freeman-Sheldon phenotype and how its clinical complications can be dealt with...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28583742/visual-and-motor-deficits-in-grown-up-mice-with-congenital-zika-virus-infection
#17
Liyuan Cui, Peng Zou, Er Chen, Hao Yao, Hao Zheng, Qian Wang, Jing-Ning Zhu, Shibo Jiang, Lu Lu, Jiayi Zhang
Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal...
June 2017: EBioMedicine
https://www.readbyqxmd.com/read/28575919/zika-virus-infection-in-pregnant-women-and-microcephaly
#18
Geraldo Duarte, Antonio Fernandes Moron, Artur Timerman, César Eduardo Fernandes, Corintio Mariani Neto, Gutemberg Leão de Almeida Filho, Heron Werner Junior, Hilka Flavia Barra do Espírito Santo, João Alfredo Piffero Steibel, João Bortoletti Filho, Juvenal Barreto Borriello de Andrade, Marcelo Burlá, Marcos Felipe Silva de Sá, Newton Eduardo Busso, Paulo César Giraldo, Renato Augusto Moreira de Sá, Renato Passini Junior, Rosiane Mattar, Rossana Pulcineli Vieira Francisco
From the discovery of the Zika virus (ZIKV) in 1947 in Uganda (Africa), until its arrival in South America, it was not known that it would affect human reproductive life so severely. Today, damage to the central nervous system is known to be multiple, and microcephaly is considered the tip of the iceberg. Microcephaly actually represents the epilogue of this infection's devastating process on the central nervous system of embryos and fetuses. As a result of central nervous system aggression by the ZIKV, this infection brings the possibility of arthrogryposis, dysphagia, deafness and visual impairment...
May 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28567106/antenatal-ultrasonography-findings-and-magnetic-resonance-imaging-in-a-case-of-pena-shokeir-phenotype
#19
Xuan-Hong Tomai, Thanh-Xuan Jasmine, Thanh-Hai Phan
Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype...
May 2017: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/28544027/a-novel-vps33b-mutation-in-a-patient-with-arthrogryposis-renal-dysfunction-cholestasis-syndrome
#20
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
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