keyword
https://read.qxmd.com/read/38584368/missed-visits-predict-recurrence-in-idiopathic-clubfoot
#1
JOURNAL ARTICLE
Armando S Martinez, Grey Loyd, Callie Bridges, Matthew Milad, Nihar Pathare, Luke Doston, Zbigniew Gugala, Jaclyn F Hill
BACKGROUND: Congenital talipes equinovarus, also known as "clubfoot," is a common congenital deformity. While reported relapse rates vary widely, relapse continues to be a common problem faced in the treatment of this condition. The objective of this study is to assess relationships between demographic/socioeconomic factors, follow-up, and rates of relapse in our population of clubfoot patients. METHODS: Retrospective chart review was conducted for patients undergoing treatment for idiopathic clubfoot from February 2012 to December 2022 at a tertiary children's hospital...
April 8, 2024: Journal of Pediatric Orthopedics
https://read.qxmd.com/read/38564972/trappc11-cdg-muscular-dystrophy-review-of-54-cases-including-a-novel-patient
#2
REVIEW
Jorge Román Corona-Rivera, Iván Martínez-Duncker, Eva Morava, Wasantha Ranatunga, Roberta Salinas-Marin, Ana María González-Jaimes, Katia Alejandra Castillo-Reyes, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Mireya Orozco-Vela, Sinhue Alejandro Brukman-Jiménez
The trafficking protein particle (TRAPP) complex is a multisubunit protein complex that functions as a tethering factor involved in intracellular trafficking. TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global developmental delay (GDD)/intellectual disability (ID), or even a congenital muscular dystrophy (CMD)...
March 28, 2024: Molecular Genetics and Metabolism
https://read.qxmd.com/read/38491417/novel-pip5k1c-variant-identified-in-a-chinese-pedigree-with-lethal-congenital-contractural-syndrome-3
#3
JOURNAL ARTICLE
Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan, Jianhua Luo
BACKGROUND: Biallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure. Currently, 5 individuals with LCCS3 were reported and 5 pathogenic variants in PIP5K1C were identified. Here, we reported the two fetuses in a Chinese pedigree who displayed multiple joint contractures and other congenital anomalies...
March 15, 2024: BMC Pediatrics
https://read.qxmd.com/read/38373814/investigations-and-management-of-complex-congenital-talipes-equinovarus
#4
JOURNAL ARTICLE
Shonnelly Novintan, Daniel Campioni-Norman, Alison Hulme
Congenital talipes equinovarus (CTEV) is a congenital deformity affecting the feet, commonly idiopathic in nature. We present a previously unreported cause of a non-idiopathic clubfoot and highlight the importance of poor response to initial treatment.A poor response to Ponseti serial casting for CTEV should alert a clinician to the fact that the foot may not be in the 'idiopathic' group and be of a more complex nature. Idiopathic clubfoot should correct with a maximum of eight serial manipulations, cast applications and Achilles tendon tenotomy...
February 19, 2024: BMJ Case Reports
https://read.qxmd.com/read/38316372/simple-talectomy-is-a-beneficial-surgical-procedure-for-talipes-equinovarus-and-other-severe-neuromuscular-foot-deformities
#5
JOURNAL ARTICLE
Marianne Frydendal Nielsen, Jan Duedal Rölfing, Line Kjeldgaard Pedersen, Michael Thede Davidsen, Bjarne Møller-Madsen
Noninvasive techniques are gold standard to redress Severe Neuromuscular Foot Deformity (SNFD). However, simple talectomy may be considered to obtain a stable, plantigrade, pain-free foot. We present a 10-year follow-up accessing radiological correction rates, functional outcomes, complications, and patient satisfaction. This retrospective case series evaluated talectomies in 2012 to 2022. Simple talectomy was combined with Steinman pin fixation of calcaneus to tibia for approximately 6 weeks. Diagnoses primarily included arthrogryposis multiplex congenita and cerebral palsy...
February 3, 2024: Journal of Foot and Ankle Surgery
https://read.qxmd.com/read/38189483/the-importance-of-having-a-single-dedicated-medical-team-to-treat-congenital-talipes-equinovarus-using-the-ponseti-method-a-retrospective-analysis-of-treatment-outcomes-after-3-years-of-follow-up
#6
JOURNAL ARTICLE
Anne Tabard-Fougère, Alice Bonnefoy-Mazure, Romain Dayer, Oscar Vazquez, Geraldo De Coulon
BACKGROUND: Congenital talipes equinovarus (CTEV) is a relatively common pediatric orthopaedic disorder and a frequent cause of disability in adult populations. The Ponseti method has emerged as the generally preferred for treating children with CTEV. Strict adherence to this technique's basic principles is critical to achieving favorable outcomes. In 2013, our institution decided that every case of pediatric CTEV would be treated by a single dedicated medical team. The present study aimed to compare the treatment outcomes of children with CTEV treated using the Ponseti method in period I (multiple surgeons) versus those in period II (single dedicated team)...
January 8, 2024: Journal of Pediatric Orthopedics
https://read.qxmd.com/read/38171593/intraoperative-tourniquet-induced-hyperthermia-in-a-pediatric-patient-a-forgotten-association
#7
Tarek Tageldin, Muhammad Jaffar Khan, Temur Baykuziyev, Haitham Ahmed
BACKGROUND: The intraoperative use of tourniquets is associated with several complications, including hyperthermia. We present the first documented case of tourniquet-induced hyperthermia in a pediatric patient at our institution. CASE: A 5-year-old female with no past medical history underwent tendon release surgery for congenital talipes equinovarus under general anesthesia. Following inflation of a pneumatic tourniquet to a pressure of 250 mmHg on her left thigh, the patient experienced a gradual increase in body temperature...
January 4, 2024: Korean Journal of Anesthesiology
https://read.qxmd.com/read/38158794/col1a1-regulates-the-apoptosis-of-embryonic-stem-cells-by-mediating-the-pitx1-tbx4-signaling
#8
JOURNAL ARTICLE
Xiangping Du, Xinle Wu, Lirong Yu, Wu Min, Gan Chen, Fadi Liu, Jian Li
PURPOSE: The purpose of this study is to explore the regulatory function of COL1A1 against the apoptosis of embryonic stem cells (ESCs) and the potential function in congenital talipes equinovarus (CTEV). METHODS: Muscle tissues were collected from 20 children with CTEV and 20 children without CTEV, followed by detecting the expression of COL1A1 using the RT-PCR method. COL1A1 was knocked down in H1 and H9 human ESCs using the RNA interference technology, followed by determining the level of COL1A1, PITX1, TBX4, HOXD10, Fas, FasL, and Bax using the Western blotting assay...
December 30, 2023: Birth Defects Research
https://read.qxmd.com/read/38151241/fetal-congenital-talipes-equinovarus-genomic-abnormalities-and-obstetric-follow-up-results
#9
JOURNAL ARTICLE
Meiying Cai, Jiansong Lin, Yanting Que, Liangpu Xu, Na Lin, Hailong Huang
OBJECTIVE: The etiology of congenital talipes equinovarus (CTEV) is unknown, and the relationship between chromosome microdeletion/microduplication and fetal CTEV is rarely reported. In this study, we retrospectively analyzed fetal CTEV to explore the relationship among the CTEV phenotype, chromosome microdeletion/microduplication, and obstetric outcomes. METHODS: Chromosome karyotype analysis and single nucleotide polymorphism (SNP) array were performed for the 68 fetuses with CTEV...
December 2024: Journal of Maternal-fetal & Neonatal Medicine
https://read.qxmd.com/read/38147384/-correction-of-gait-stereotype-and-reduction-of-the-risk-of-falling-in-patients-with-equinovarus-foot-placement-and-central-hemiparesis
#10
JOURNAL ARTICLE
V S Ondar, S V Prokopenko, N V Isaeva, V A Gurevich, T D Koriagina, O A Andrianova
OBJECTIVE: To test a new approach to gait stereotype correction for patients with central hemiparesis with talipes equinovarus. MATERIAL AND METHODS: The study was performed in a group of patients with formed talipes equinovarus and post-stroke hemiparesis. Footwear with orthopaedic elements was offered to the patients. Evaluation of spatial and temporal gait parameters was performed and the risk of falls was assessed. RESULTS: In the process of work, data were obtained confirming the effectiveness of using specialized shoes for equinovarus foot placement...
2023: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/38088012/myotonic-dystrophy-type-1-steinert-disease-29-years-of-experience-at-a-tertiary-pediatric-hospital
#11
JOURNAL ARTICLE
Inês Cascais, Cristina Garrido, Lurdes Morais, Rosa Amorim, Rosa Lima, Helena Ferreira Mansilha, Teresa Correia, António Oliveira, Manuela Santos
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. METHODS: A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms. RESULTS: Thirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16...
December 6, 2023: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38074009/the-effectiveness-of-physical-therapy-intervention-in-a-seven-year-old-child-with-congenital-talipes-equinovarus-a-case-report
#12
Spandan Munjewar, Kamya J Somaiya, Manali A Boob, Pratik Phansopkar
Congenital talipes equinovarus (CTEV), a prevalent congenital anomaly, is characterized by the backward bending of the hindfoot, the inward turning of the midfoot, and the turning or tilting of the front foot. The likelihood of experiencing clubfoot is higher in males and among firstborn offspring. Both genetic and environmental elements are recognized as factors that play a role in the occurrence of this developmental irregularity. It is diagnosed clinically because the abnormality has been visible since childhood, where one or both feet point downward and inward...
November 2023: Curēus
https://read.qxmd.com/read/38073997/conversations-about-congenital-clubfoot-investigating-how-parents-share-information-about-a-structural-diagnosis-with-their-children
#13
JOURNAL ARTICLE
Danika Baskar, Maxance Ngnepieba, Pooja Paul, Nicole A Segovia, Steve Frick
Background and objective Clubfoot is a common congenital musculoskeletal condition that is treated with manipulation and casting in the first few weeks of life, followed by bracing that extends into early childhood. While children typically do not recall treatment with Ponseti casting in infancy, childhood treatment and monitoring may result in a sense of heightened awareness. In light of this, this study explores how parents share information about clubfoot diagnosis and guide their children in understanding the importance of treatment...
November 2023: Curēus
https://read.qxmd.com/read/38073918/comprehensive-rehabilitation-of-charcot-foot-with-equinovarus-deformity-a-case-report
#14
Neha M Chitlange, Sakshi Padmawar, Pratik Phansopkar
Charcot neuroarthropathy is the destruction of the bones and joints caused by underlying neuropathy, trauma, and disturbances in bone metabolism. Modern health care and surgical options now include limb salvage. An acquired or congenital foot deformity is the equinovarus deformity, also known as clubfoot or talipes equinovarus. The foot is fixed in plantarflexion (equinus), deviates toward its center (varus), and is rotated upward so that it rests on its outside (supination) in this condition. In another way, the foot turns axially outward while pointing downward and inward...
November 2023: Curēus
https://read.qxmd.com/read/38015923/determining-the-optimal-treatment-for-idiopathic-clubfoot-a-network-meta-analysis-of-randomized-controlled-trials
#15
JOURNAL ARTICLE
Ying-Yu Wang, Yu-Cheng Su, Yu-Kang Tu, Ching-Ju Fang, Chih-Kai Hong, Ming-Tung Huang, Yung-Chieh Lin, Min-Ling Hsieh, Fa-Chuan Kuan, Chien-An Shih, Chii-Jeng Lin
BACKGROUND: Clubfoot, or congenital talipes equinovarus deformity, is a common anomaly affecting the foot in infants. However, clinical equipoise remains between different interventions, especially those based on the Ponseti method. The aim of this study was to examine the clinical outcomes of the various interventions for treating idiopathic clubfoot. METHODS: Searches of the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, Scopus, and CINAHL were conducted...
November 28, 2023: Journal of Bone and Joint Surgery. American Volume
https://read.qxmd.com/read/37986075/prenatal-diagnosis-and-genetic-etiology-analysis-of-talipes-equinovarus-by-chromosomal-microarray-analysis
#16
JOURNAL ARTICLE
Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu, Liangpu Xu
BACKGROUND: With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA). METHODS: This retrospectively study included 131 fetuses with TE identified by ultrasonography...
November 20, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37964341/incidence-and-prevalence-of-congenital-clubfoot-in-apulia-a-regional-model-for-future-prospective-national-studies
#17
REVIEW
Raffaella Panza, Federica Albano, Alberto Casto, Cosimo Del Vecchio, Nicola Laforgia, Daniela Dibello
BACKGROUND: Congenital clubfoot is a fairly common and severe congenital malformation, most often of idiopathic origin. A smaller percentage of cases is related to chromosomal abnormalities and genetic syndromes. It is estimated that 0.5/1000 newborns are affected worldwide, with a male to female ratio of 2:1 and greater distribution in developing countries (80%). The "European Surveillance of Congenital Anomalies (EUROCAT)" reported clubfoot prevalence in European newborns, but data regarding Italy are missing or poor...
November 14, 2023: Italian Journal of Pediatrics
https://read.qxmd.com/read/37963491/a-hub-and-spoke-shared-care-initiative-for-ctev-ponseti-service
#18
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
#19
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
#20
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
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