keyword
https://read.qxmd.com/read/37963491/a-hub-and-spoke-shared-care-initiative-for-ctev-ponseti-service
#21
JOURNAL ARTICLE
Sabba A Hussain, Aisling Russell, Sean E Cavanagh, Anna Bridgens, Yael Gelfer
AIMS: The Ponseti method is the gold standard treatment for congenital talipes equinovarus (CTEV), with the British Consensus Statement providing a benchmark for standard of care. Meeting these standards and providing expert care while maintaining geographical accessibility can pose a service delivery challenge. A novel 'Hub and Spoke' Shared Care model was initiated to deliver Ponseti treatment for CTEV, while addressing standard of care and resource allocation. The aim of this study was to assess feasibility and outcomes of the corrective phase of Ponseti service delivery using this model...
November 15, 2023: Bone & joint open
https://read.qxmd.com/read/37951674/clubfoot-emphasis-on-the-complex-and-atypical-subsets
#22
REVIEW
Mitzi L Williams, Matthew B Dobbs
The Ponseti method has proven to be successful in the treatment of both isolated and non-isolated clubfoot. The method should be executed prior to any pediatric invasive procedures and likewise should be attempted with any pediatric recurrence. A thorough neurologic examination and attention to clinical signs will help distinguish the atypical clubfoot. Despite this approach some children do require return to serial casting, physical therapy, and or surgery to achieve a plantigrade functional foot. Bracing strategies at a time of growth remain key...
January 2024: Clinics in Podiatric Medicine and Surgery
https://read.qxmd.com/read/37942915/prenatal-diagnosis-of-isolated-bilateral-clubfoot-is-amniocentesis-indicated
#23
MULTICENTER STUDY
Edouard Leyne, Olivia Anselem, Pénélope Jordan, Alexandre J Vivanti, Alexandra Benachi, Laurent Salomon, Mathilde Jacquier, Jean-Marie Jouannic, Ferdinand Dhombres, Tatiana Cambier, Jonathan Rosenblatt, Emmanuelle Pannier, François Goffinet, Vassilis Tsatsaris, Yoann Athiel
INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient...
January 2024: Acta Obstetricia et Gynecologica Scandinavica
https://read.qxmd.com/read/37930140/identification-of-a-novel-lmx1b-nonsense-variant-associated-with-congenital-talipes-equinovarus-by-prenatal-exome-sequencing-a-case-report
#24
JOURNAL ARTICLE
Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu
BACKGROUND: Congenital talipes equinovarus (CTEV) is a rotational foot deformity that affects muscles, bones, connective tissue, and vascular or neurological tissues. The etiology of CTEV is complex and unclear, involving genetic and environmental factors. Nail-patella syndrome is an autosomal dominant disorder caused by variants of the LIM homeobox transcription factor 1 beta gene (LMX1B, OMIM:602575). LMX1B plays a key role in the development of dorsal limb structures, the kidneys, and the eyes, and variants in this gene may manifest as hypoplastic or absent patella, dystrophic nails, and elbow and iliac horn dysplasia; glomerulopathy; and adult-onset glaucoma, respectively...
January 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/37915662/sacral-agenesis-without-maternal-diabetes-a-case-report
#25
JOURNAL ARTICLE
Jagadish Thapa, Abhishek Pandey, Archana Pandey, Suraj Keshari, Karuna Bista, Aashutosh Chaudhary
INTRODUCTION: Sacral agenesis is a rare congenital condition that is characterized by sacrococcygeal bone agenesis. It is associated with spinal cord anomalies as well as problems with the genitourinary system, large bowel, and lower extremities. Fetal ultrasound allows for diagnosis even before birth. CASE PRESENTATION: The authors present the case of a 1-year-old girl with sacral agenesis type III and bilateral congenital talipes equinovarus with spina bifida who was born to a nondiabetic mother and had a normal anomaly scan...
November 2023: Annals of Medicine and Surgery
https://read.qxmd.com/read/37885627/a-rare-presentation-of-bifid-tibialis-anterior-tendon-in-a-case-of-idiopathic-congenital-talipes-equinovarus
#26
Rajan Gupta, Binoti Sheth, Pankaj Pawar, Neeraj Kalra, Vasav Somani
INTRODUCTION: Idiopathic congenital talipes equinovarus (CTEV) is one of the most extensively researched topics for decades. It has been associated with various musculoskeletal anomalies which maybe bony, vascular or involving the ligaments and muscles which may have a direct or indirect impact on its pathoanatomy. This report describes an unusual presentation of a bifid tibialis anterior tendon (TAT) in a case of CTEV. This is the first report of this kind in the literature to the best of our knowledge...
October 2023: Journal of Orthopaedic Case Reports
https://read.qxmd.com/read/37853656/investigating-the-association-between-vitamin-d-dietary-intake-during-pregnancy-and-incidence-of-clubfoot-in-neonates
#27
JOURNAL ARTICLE
Haitham T Idriss, Martha M Werler
AIMS: Talipes equinovarus (clubfoot) is a congenital lower foot deformity that results from a neuromuscular deficiency, but the precise etiology remains elusive. Vitamin D is important for fetal neuromuscular development. In this study, we investigated the association between dietary vitamin D intake during pregnancy and incidence of clubfoot in neonates, since such a question has thus far been overlooked. METHODS: We conducted a secondary analysis of data collected in the United States, between 2007 and 2011 for a case-control study of children born with clubfoot...
October 18, 2023: Birth Defects Research
https://read.qxmd.com/read/37849865/assess-perception-practice-and-lived-experiences-on-use-of-corrective-braces-among-parents-of-children-diagnosed-with-clubfoot-a-mixed-method-study
#28
JOURNAL ARTICLE
Poonam Kumari, Vasantha C Kalyani, Maneesh Sharma, Vivek Singh, Anil Kumar Prashar, Nidhi Patiyal
BACKGROUND: Congenital talipes equinovarus (CTEV) is a congenital musculoskeletal deformity, which further leads to abnormal alignment of the feet in children. The aim of the present study is to assess perception and practice and explore lived experiences on the use of corrective braces among parents of children diagnosed with clubfoot. MATERIAL AND METHODOLOGY: A mixed method study approach with convergent parallel research design was used on 100 parents of children with clubfoot...
2023: Journal of Education and Health Promotion
https://read.qxmd.com/read/37833686/strengthening-capacity-of-health-workers-to-diagnose-birth-defects-in-ugandan-hospitals-from-2015-to-2021
#29
JOURNAL ARTICLE
Joyce Namale-Matovu, Ronald Kusolo, Robert Serunjogi, Linda Barlow-Mosha, Daniel Mumpe-Mwanja, Natalia Niombi, Dennis Kalibbala, Dhelia Williamson, Diana Valencia, Cynthia A Moore, Kenneth Mwambi, Lisa J Nelson, Phoebe Monalisa Namukanja-Mayambala, Jennifer L Williams, Cara T Mai, Yan Ping Qi, Philippa Musoke
BACKGROUND: Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income countries (LMICs). Empowering health workers to identify and diagnose major external birth defects (BDs) is crucial to establishing effective hospital-based BD surveillance. Makerere University-Johns Hopkins University (MU-JHU) Research Collaboration BD Surveillance System consists of three diagnostic levels: (1) surveillance midwives, (2) MU-JHU clinical team, and (3) U...
October 13, 2023: BMC Medical Education
https://read.qxmd.com/read/37829990/conventional-versus-accelerated-ponseti-in-the-management-of-cases-of-idiopathic-clubfoot-a-systematic-review-and-meta-analysis
#30
REVIEW
Mokhtar A Alsayed, Mohamed A Hussein, Raad M Althaqafi, Ali Alyami
This study aimed to compare the outcomes of the accelerated and standard Ponseti method for clubfoot pathology by constructing a systematic review and meta-analysis of relevant randomized controlled trials and nonrandomized comparative studies. A systematic search was conducted to identify the relevant studies through PubMed, Google Scholar, and Cochrane depending on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The keywords used included "accelerated" AND "standard" AND "Ponseti" AND "clubfoot" AND "Congenital Talipes Equinovarus" AND "CTEV" AND "prospective comparative design" AND "randomized trial...
September 2023: Curēus
https://read.qxmd.com/read/37789312/trends-in-congenital-clubfoot-prevalence-and-co-occurring-anomalies-during-1994-2021-in-denmark-a-nationwide-register-based-study
#31
JOURNAL ARTICLE
Paula L Hedley, Ulrik Lausten-Thomsen, Kristin M Conway, Klaus Hindsø, Paul A Romitti, Michael Christiansen
BACKGROUND: Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994-2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance...
October 3, 2023: BMC Musculoskeletal Disorders
https://read.qxmd.com/read/37767235/smart-self-monitoring-analysis-and-reporting-technology-and-sensor-based-technology-applications-in-trauma-and-orthopaedic-surgery
#32
REVIEW
Vibhu Krishnan Viswanathan, Vijay Kumar Jain, Chetan Sangani, Rajesh Botchu, Karthikeyan P Iyengar, Raju Vaishya
BACKGROUND: Innovations in implant designs and computer technology have led to the development of smart implants and prostheses in the field of orthopedics and trauma. Sensor-guided devices enable close monitoring of physical, chemical and biological environment around the implants, which has been purported to meliorate the intra-operative precision and post-operative surveillance of patients. OBJECTIVE: We evaluate the current applications of sensor-based technology in the management of patients with a spectrum of musculoskeletal conditions...
October 2023: Journal of Orthopaedics
https://read.qxmd.com/read/37766918/epidemiology-of-birth-defects-in-a-national-hospital-based-birth-defect-surveillance-spot-in-southern-jiangsu-china-2014-2018
#33
JOURNAL ARTICLE
Ying Zhou, Di Yang, Xueqin Mao, Hua Zhou, Li Wang
OBJECTIVE: As the only hospital-based national surveillance spot of birth defects (BDs) in Changzhou city located in the economically developed eastern part of China, Changzhou Maternal and Child Health Care Hospital has encountered serious challenges in BD prevention. This study aimed to describe the epidemiology of total BDs born in the hospital from 2014 to 2018. METHODS: The data were collected from the national hospital-based birth defect surveillance system...
2023: Frontiers in Medicine
https://read.qxmd.com/read/37727162/parental-concerns-regarding-bracing-compliance-for-children-with-clubfoot-seeking-support-on-facebook
#34
JOURNAL ARTICLE
Natalie Tonkovich, Danika Baskar, Steven Frick
Background Clubfoot treatment requires a period of bracing until early childhood to maintain the initial correction achieved by Ponseti casting and serial manipulations. During this period, bracing compliance is the most important factor in preventing the relapse of clubfoot deformity. This period can be challenging for parents, given several factors that affect treatment adherence. In recent years, social media has opened up new ways to seek guidance from an online community, including health-focused areas such as congenital clubfoot...
August 2023: Curēus
https://read.qxmd.com/read/37724225/factors-related-to-relapse-of-congenital-talipes-equinovarus-ctev-after-the-ponseti-method
#35
JOURNAL ARTICLE
Waleed A Mohsenh, Mahdi M Alqarni, Abdullah K Alshehri, Abdullah M Asiri, Ohood H Mohsenh, Syed E Mahmood, Ali I Alhifzi, Reem H Mohsenh, Ahmed S Al Zomia
BACKGROUND: Congenital talipes equinovarus (CTEV) is one of the common congenital disorders in pediatric orthopedic practice that affects a large group of children.It is a combination of four parts of deformity that affect either a single foot or both feet. Our aim in this study is to estimate the prevalence and incidence of CTEV and to evaluate the risk factors that lead to relapse in some children to avoid relapse in future and complex surgical interventions, as well as to improve the final outcome...
August 2023: Curēus
https://read.qxmd.com/read/37706131/homozygous-trpv4-mutation-broadens-the-phenotypic-spectrum-of-congenital-spinal-muscular-atrophy-and-arthrogryposis-a-case-report
#36
Elyette Lugo, Eric Graulau, Edwardo Ramos Cortes, Simón Carlo, Norman Ramírez
Transient receptor potential vanilloid 4 (TRPV4) mutations are known to cause inherited axonal neuropathies and skeletal dysplasia. TRPV4 mutations are associated with distal hereditary motor neuropathies (dHMN), which distinctly involve motor deficits. A 1 ½-year-old boy presented at the clinic with diminished lower limb movement and ambulatory limitations. The patient was born with bilateral knee arthrogryposis and bilateral talipes equinovarus, which required surgical intervention. A gross neurologic exam was unremarkable, with normal vision and hearing...
August 2023: Curēus
https://read.qxmd.com/read/37692597/congenital-talipes-equinovarus-management-and-outcomes-the-experiences-of-pediatric-tertiary-centers-in-abha-saudi-arabia
#37
JOURNAL ARTICLE
Saleh M Kardm, Ahmed S Al Zomia, Ali A Alqahtani, Faisal M Al Fae, Ibrahim A Al Zehefa, Yazeed S Alshahrani, Fahad A A AlShehri, Abdulrhman M Alqarni, Abdulrahman S Alqahtani
BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, describes a range of foot abnormalities usually present at birth (congenital) in which a baby's foot is twisted out of shape or position. In clubfoot, tendons are shorter than usual. Clubfoot is a fairly common birth defect and is usually an isolated problem for an otherwise healthy newborn. AIM: This study aimed to investigate the experiences of pediatric tertiary centers in Abha, Saudi Arabia, regarding the management, frequency, treatment options, and outcomes of CTEV...
August 2023: Curēus
https://read.qxmd.com/read/37684057/de-novo-trpm3-missense-variant-associated-with-neurodevelopmental-delay-and-manifestations-of-cerebral-palsy
#38
JOURNAL ARTICLE
Jagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael Gargano, Anxhela Gjyshi Gustafson, Ellen M Raney, Mallory Shingle, Jon R Davids, Peter N Robinson
We identified a de novo heterozygous TRPM3 missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy using phenotype-driven prioritization analysis of whole genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to destabilize the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with cerebral palsy and confirms the pathogenicity of the variant p...
September 8, 2023: Cold Spring Harbor Molecular Case Studies
https://read.qxmd.com/read/37680947/the-global-birth-prevalence-of-clubfoot-a-systematic-review-and-meta-analysis
#39
JOURNAL ARTICLE
Tracey Smythe, Sara Rotenberg, Chris Lavy
BACKGROUND: Estimates of the birth prevalence of clubfoot in low and middle income settings range from 0.5 to 2 per 1000 births. However, there is currently no estimate of global birth prevalence of clubfoot. METHODS: We conducted a systematic review of studies reporting the birth prevalence of clubfoot across all countries and regions worldwide in the last 10 years. Africa Wide Information, EMBASE, CINAHL, Global Health, LILACS and Medline databases were searched for relevant studies from January 1st 2012 to February 9th 2023...
September 2023: EClinicalMedicine
https://read.qxmd.com/read/37635513/a-24-year-old-male-with-marden-walker-syndrome-and-epilepsy-case-report
#40
Jamir Pitton Rissardo, Ana Letícia Fornari Caprara, Michele Rechia Fighera, Renan Luiz Tamiozzo
We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained...
2023: Neurology India
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