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Equinovarus

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https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#1
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28718240/ponseti-technique-for-management-of-congenital-idiopathic-club-foot
#2
Muhammad Qaisar Shah, Alamzeb Khan, Muhammad Shoaib Zardad, Rizwana Iqbal, Sajjad Ahmed
BACKGROUND: Clubfoot or congenital talipes equinovarus, is a congenital deformity of the foot. It consists of cavus, adduction, varus and equinus. This is due to medial displacement of navicular and calcaneus around the talus. Talus is in equinus. Medial deviation of the head and neck of talus is due to force of calcaneus on talus. METHODS: This descriptive case series study was conducted at Orthopaedic unit, Ayub Teaching Hospital, Abbottabad from 1st August 2015 to 31st January 2016 to determine the frequency of idiopathic clubfoot correction, by using the Ponseti method...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28691555/idiopathic-congenital-talipes-equinovarus-not-always-an-isolated-anomaly-a-review-of-long-term-outcomes
#3
Peter Stone, Walston Martis, Haemish Crawford
OBJECTIVE: To describe the long-term outcomes of children at school age who were thought to have isolated idiopathic congenital talipes equino varus (ICTEV) at birth. METHOD: A retrospective review of all children attending a regional talipes clinic who had achieved school age. RESULTS: One hundred sixty-three children were followed up. ICTEV was more common in Maori and other Polynesian children and in males. Additional abnormalities were apparent in 30...
July 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28672132/deficient-dorsalis-pedis-flow-in-severe-idiopathic-clubfeet-does-ponseti-casting-affect-the-outcome
#4
Ismail Munajat, Mehran Yoysefi, Nik Munirah Nik Mahdi
BACKGROUND: Arterial deficiency in congenital clubfoot or congenital talipes equinovarus (CTEV) was postulated as either the primary cause of deformity or secondary manifestation of other bony and soft tissue abnormalities. The objectives of the study were to find any association between arterial deficiency with severity of CTEV and its treatment. METHOD: This prospective study conducted on 24 feet with CTEV (18 babies) with Pirani score ranging between 2 to 6. Eighteen normal babies (36 feet) were selected as control...
June 8, 2017: Foot
https://www.readbyqxmd.com/read/28657917/patient-registry-of-spasticity-care-world-data-analysis-based-on-physician-experience
#5
Alberto Esquenazi, Stella Lee, Nathaniel Mayer, Roser Garreta, Atul Patel, Elie Elovic, Stephen Koelbel, Gerard Francisco, Iris Reuter
OBJECTIVE: The aim of the study was to report physician experience-based "real-world" treatment patterns with botulinum toxin type A in patients with stroke and traumatic brain injury. DESIGN: A prospective, multicenter, international observational registry design was used. RESULTS: Six hundred twenty-seven participants with stroke and 132 participants with traumatic brain injury were assessed and treated by 17 more experienced physicians and 12 less experienced physicians...
June 28, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28632733/ponseti-method-in-the-management-of-clubfoot-under-2-years-of-age-a-systematic-review
#6
Balasankar Ganesan, Ameersing Luximon, Adel Al-Jumaily, Suchita Kothe Balasankar, Ganesh R Naik
BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children...
2017: PloS One
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#7
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28594771/serial-head-and-brain-imaging-of-17-fetuses-with-confirmed-zika-virus-infection-in-colombia-south-america
#8
Miguel Parra-Saavedra, Jennita Reefhuis, Juan Pablo Piraquive, Suzanne M Gilboa, Martina L Badell, Cynthia A Moore, Marcela Mercado, Diana Valencia, Denise J Jamieson, Mauricio Beltran, Magda Sanz-Cortes, Ana Maria Rivera-Casas, Mayel Yepez, Guido Parra, Martha Ospina Martinez, Margaret A Honein
OBJECTIVE: To evaluate fetal ultrasound and magnetic resonance imaging findings among a series of pregnant women with confirmed Zika virus infection to evaluate the signs of congenital Zika syndrome with respect to timing of infection. METHODS: We conducted a retrospective case series of pregnant women referred to two perinatal clinics in Barranquilla and Ibagué, Colombia, who had findings consistent with congenital Zika syndrome and Zika virus infection confirmed in maternal, fetal, or neonatal samples...
July 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28577551/clinical-diagnostic-exome-evaluation-for-an-infant-with-a-lethal-disorder-genetic-diagnosis-of-tarp-syndrome-and-expansion-of-the-phenotype-in-a-patient-with-a-newly-reported-rbm10-alteration
#9
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
BACKGROUND: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28553443/pattern-of-presentation-and-outcome-of-short-term-treatment-for-idiopathic-clubfoot-ctev-with-ponseti-method
#10
R Gunalan, A Mazelan, Ypb Lee, A Saw
Introduction: Congenital Talipes Equinovarus (CTEV) is a common congenital foot deformity that is associated with long term disability. Treatment with Ponseti method has been successful especially for children who present early. We conducted this study to investigate the age of presentation of children and report the early outcome. Materials: This is a retrospective study from a single institution. We included 31 patients with 45 idiopathic clubfeet and investigated problems and success rate at the end of serial casting...
November 2016: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28533829/clinical-analysis-of-aqueductal-stenosis-in-patients-with-hydrocephalus-in-a-kenyan-setting
#11
Loyal Poonamjeet Kaur, Nderitu Joseph Munyiri, Wekesa Vincent Dismus
INTRODUCTION: Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. METHODS: In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28481738/outcomes-of-botulinum-toxin-type-a-for-equinovarus-deformity-in-patients-with-cva-a-case-series
#12
Priya Karakkattil, Elaine Trudelle-Jackson, Heather Hilliard Brown, Patrick Hammontree, Mary Okolo
BACKGROUND: There is evidence that Botulinum Toxin-A (BTX-A) reduces focal spasticity associated with equinovarus to improve gait in patients poststroke. However, there is little research examining whether gait improvements are maintained after the effectiveness period of BTX-A injections. The purpose of this observational study was to determine whether there was a difference in gait parameters in three patients before BTX-A injection versus four and ten weeks after. CASE SERIES: Three women, ages 63, 60, and 42 postischemic stroke with hemiparesis and equinovarus underwent measurements for: plantar flexor spasticity, ankle dorsiflexion ROM, temporal-spatial gait parameters, and gait endurance...
May 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28476907/congenital-talipes-equinovarus-and-congenital-vertical-talus-secondary-to-sacral-agenesis
#13
Jonathan James Hyett Bray, Sebastien Crosswell, Rick Brown
Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet...
May 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28465847/prenatal-diagnosis-of-a-2-5%C3%A2-mb-de-novo-17q24-1q24-2-deletion-encompassing-kpna2-and-psmd12-genes-in-a-fetus-with-craniofacial-dysmorphism-equinovarus-feet-and-syndactyly
#14
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28451697/assessment-and-treatment-of-spastic-equinovarus-foot-after-stroke-guidance-from-the-mont-godinne-interdisciplinary-group
#15
Thierry Deltombe, Delphine Wautier, Philippe De Cloedt, Michèle Fostier, Thierry Gustin
OBJECTIVE: To present interdisciplinary practical guidance for the assessment and treatment of spastic equinovarus foot after stroke. RESULTS: Clinical examination and diagnostic nerve block with anaesthetics determine the relative role of the factors leading to spastic equinovarus foot after stroke: calf spasticity, triceps surae - Achilles tendon complex shortening and dorsiflexor muscles weakness and/or imbalance. Diagnostic nerve block is a mandatory step in determining the cause(s) of, and the most appropriate treatment(s) for, spastic equinovarus foot...
April 26, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28286053/onabotulinumtoxina-for-lower-limb-spasticity-guidance-from-a%C3%A2-delphi-panel-approach
#16
Alberto Esquenazi, Abraham Alfaro, Ziyad Ayyoub, David Charles, Khashayar Dashtipour, Glenn D Graham, John R McGuire, Ib R Odderson, Atul T Patel, David M Simpson
BACKGROUND: OnabotulinumtoxinA is approved for the treatment of upper and lower limb spasticity in adults. Guidance on common postures and onabotulinumtoxinA injection paradigms for upper limb spasticity has been developed via a Delphi Panel; however, similar guidance for lower limb spasticity has not been established. OBJECTIVE: To define a clinically recommended treatment paradigm for the use of onabotulinumtoxinA for each common posture among patients with poststroke lower limb spasticity (PSLLS) and to identify the most common PSLLS aggregate postures...
March 7, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28248538/possible-pathogenetic-mechanisms-and-new-therapeutic-approaches-of-pes-equinovarus
#17
M Ošťádal, J Lišková, D Hadraba, A Eckhardt
Idiopathic pes equinovarus (clubfoot) is a congenital deformity of the foot and lower leg defined as a fixation of the foot in plantar flexion, adduction, supination and varus. The deformity does not affect only the foot position, which is usually investigated by radiography, CT, micro-CT, MRI or ultrasound but logically influence the whole gait biomechanics. It is supposed, that clubfoot belongs to a group of fibroproliferative disorders whose origin and multi-hierarchical effect remain unknown. It has been suggested that fibroblasts and growth factors may be involved...
February 28, 2017: Physiological Research
https://www.readbyqxmd.com/read/28245180/question-2-what-is-the-predictive-value-of-an-antenatal-ultrasound-showing-apparently-isolated-talipes-equinovarus
#18
James S Huntley, Jason J Howard
No abstract text is available yet for this article.
November 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28216755/interobserver-variability-in-pirani-clubfoot-severity-scoring-system-between-the-orthopedic-surgeons
#19
Saurabh Jain, Anand Ajmera, Mahendra Solanki, Alok Verma
BACKGROUND: Congenital talipes equinovarus (clubfoot) is one of the most common congenital pediatric orthopedic foot deformity, which varies in severity and clinical course. Assessment of severity of the club foot deformity is essential to assess the initial severity of deformity, to monitor the progress of treatment, to prognosticate, and to identify early relapse. Pirani's scoring system is most acceptable and popular for club foot deformity assessment because it is simple, quick, cost effective, and easy...
January 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28177984/treatment-of-syndrome-associated-congenital-talipes-equinovarus-using-the-ponseti-method-4-12-years-of-follow-up
#20
Hosam E Matar, Daoud Makki, Neeraj K Garg
to evaluate the effectiveness of the Ponseti method in treating syndrome-associated (nonidiopathic) congenital talipes equinovarus. This was a retrospective consecutive review over a 12-year period in a tertiary centre of all patients with syndrome-associated talipes equinovarus treated with the Ponseti method. The primary outcome measure at the final follow-up was the functional correction of the deformity. There were 16 (28 feet) children, with an average follow-up of 7 years (range: 4-12). The average age at presentation was 6...
February 7, 2017: Journal of Pediatric Orthopedics. Part B
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