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https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#1
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#2
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28757043/a-large-scale-serological-survey-of-akabane-virus-infection-in-cattle-yak-sheep-and-goats-in-china
#3
Jidong Wang, Kim R Blasdell, Hong Yin, Peter J Walker
Akabane virus (AKAV) is a member of the Simbu serogroup, classified in the genus Orthobunyavirus, family Bunyaviridae. AKAV infection can cause abortion, stillbirth, and congenital arthrogryposis and hydranencephaly in cattle and sheep. The distribution and prevalence of AKAV infection in China is still unknown. A total of 2731 sera collected from 2006 to 2015 in 24 provinces of China from cattle, sheep, goats and yak were examined by serum neutralisation test. The overall seroprevalence rates for AKAV antibodies were 21...
August 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#4
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28738752/physical-functioning-and-activities-of-daily-living-in-adults-with-amyoplasia-the-most-common-form-of-arthrogryposis-a-cross-sectional-study
#5
Unni Steen, Lena Lande Wekre, Nina Køpke Vøllestad
BACKGROUND: Amyoplasia, the most common form of arthrogryposis is characterized by typical deformities of the joints and replacement of skeletal muscles by fibrous tissue and fat. There is sparse literature on adaptation to adult life with amyoplasia. PURPOSE: To describe physical function and activity strategies in adults with amyoplasia, as this knowledge is important for relevant function-enhancing measures. MATERIALS AND METHODS: Twenty-two adults (20-91 years) with amyoplasia participated...
July 24, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28733740/laparoscopic-splenopexy-for-wandering-spleen-a-video-demonstration-of-technique-by-encircling-the-spleen-with-polyglactin-910-woven-mesh
#6
Sheridan Morgan, Ian Glenn, Oliver Soldes
BACKGROUND: Wandering spleen is a rare clinical entity caused by absence of the spleen's peritoneal attachments, allowing the spleen to move freely within the peritoneal cavity [1]. This disease is most commonly seen in children and young women [1, 2]. Affected individuals are predisposed to complications including splenic torsion, splenic infarction, and pancreatic necrosis [3, 4]. Patients may present with constipation, an abdominal mass, swelling, or acute abdominal pain if splenic torsion has occurred [4]...
July 21, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#7
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#8
S L Alper
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis...
2017: Current Topics in Membranes
https://www.readbyqxmd.com/read/28716382/combined-elbow-release-and-humeral-rotational-osteotomy-in-arthrogryposis
#9
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
#10
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
#11
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
#12
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
#13
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...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28607845/interbrachial-pinch-by-trapezius-transfer-in-amyoplasia-congenita-a-case-report
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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