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Talipes equinovarus

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https://www.readbyqxmd.com/read/28632733/ponseti-method-in-the-management-of-clubfoot-under-2-years-of-age-a-systematic-review
#1
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
#2
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
#3
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...
June 6, 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
#4
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
#5
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
#6
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/28476907/congenital-talipes-equinovarus-and-congenital-vertical-talus-secondary-to-sacral-agenesis
#7
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
#8
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/28245180/question-2-what-is-the-predictive-value-of-an-antenatal-ultrasound-showing-apparently-isolated-talipes-equinovarus
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28079742/the-hybrid-method-for-the-treatment-of-congenital-talipes-equinovarus-preliminary-results-on-92-consecutive-feet
#12
Federico Canavese, Mounira Mansour, Guillemette Moreau-Pernet, Yannael Gorce, Alain Dimeglio
Over the past 4 years, our pediatric orthopedic unit has developed a new hybrid protocol combining the advantages of Ponseti's method and the French functional physiotherapy method. Sixty-one patients (92 feet) completed treatment. Clubfoot was unilateral in 30 (49.2%) patients and bilateral in 31 (50.8%) patients. The mean Dimeglio score at the start of treatment was 13.5/20 (range: 6/20-19/20). All patients had clinical and radiographic follow-up for at least 2 years (range: 2-4 years). If orthopedic treatment was ineffective and feet showed no improvement, further surgery was performed...
May 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28035313/rare-case-of-tibial-hemimelia-preaxial-polydactyly-and-club-foot
#13
Guinevere Granite, John E Herzenberg, Ronald Wade
A seven-month old female presented with left tibial hemimelia (or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot (congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-rays, and computed tomography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, and no middle or distal phalanges for fifth toe...
December 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28000394/birth-prevalence-of-congenital-talipes-equinovarus-in-low-and-middle-income-countries-a-systematic-review-and-meta-analysis
#14
REVIEW
Tracey Smythe, Hannah Kuper, David Macleod, Allen Foster, Christopher Lavy
OBJECTIVE: Congenital talipes equinovarus (CTEV), or clubfoot, is a structural malformation that develops early in gestation. Birth prevalence of clubfoot is reported to vary both between and within low- and middle-income countries (LMICs), and this information is needed to plan treatment services. This systematic review aimed to understand the birth prevalence of clubfoot in LMIC settings. METHODS: Six databases were searched for studies that reported birth prevalence of clubfoot in LMICs...
March 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/27935562/current-conservative-management-and-classification-of-club-foot-a-review
#15
Ganesan Balasankar, Ameersing Luximon, Adel Al-Jumaily
Clubfoot, known as congenital talipes equinovarus, is one of the complex paediatric foot deformity with the incidence of 1 in every 1000 live births. It consists of four complex foot abnormalities such as forefoot adductus, midfoot cavus, and hindfoot varus and ankle equinus. There are a number of surgical techniques (soft tissue releases, arthrodesis) used to correct clubfoot. However currently the conservative management (manipulation, serial casting, and braces) of clubfoot is considered as the best choice and it is widely accepted among orthopaedists...
November 30, 2016: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/27819742/role-of-col9a1-genetic-polymorphisms-in-development-of-congenital-talipes-equinovarus-in-a-chinese-population
#16
X L Zhao, Y J Wang, Y L Wu, W H Han
Talipes equinovarus is a common congenital deformity. COL9A1 polymorphisms are associated with the development of articular cartilage-related diseases. In the current study, we evaluated the relationship between COL9A1 rs1135056, rs35470562, and rs592121 genetic polymorphisms and risk of congenital talipes equinovarus. Between January 2013 and July 2015, 87 children with congenital talipes equinovarus and 174 control subjects were recruited from the Fourth People's Hospital of Shaanxi and the First Hospital of Yulin...
November 3, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27794580/think-of-the-conus-medullaris-at-the-time-of-diagnosis-of-fetal-sacral-agenesis
#17
Nicolas Mottet, Jelena Martinovic, Claire Baeza, Fabien Guimiot, Jean-Philippe Bault, Marie Cécile Aubry, Didier Riethmuller, Michel Zerah, Celia Cretolle, Alexandra Benachi
BACKGROUND: There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities. METHODS: Ten cases of prenatally diagnosed sacral agenesis were included between 1995 and 2014 after collating ultrasound findings and prenatal computed tomography data...
October 29, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27779489/an-unusual-cause-of-talipes-equinovarus-agenesis-of-leg-muscles
#18
Soumaya Boudokhane, Amine Kalai, Badii Hmida, Anis Jellad, Zohra Ben Salah Frih
No abstract text is available yet for this article.
May 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27751652/a-case-of-congenital-spinal-muscular-atrophy-with-pain-due-to-a-mutation-in-trpv4
#19
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
December 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27725019/south-african-congenital-disorders-data-2006-2014
#20
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
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