Results 41 to 50 of about 6,783 (160)

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot [PDF]

PeerJ, 2020
Background As one of the most common major congenital distal skeletal abnormalities, congenital talipes equinovarus (clubfoot) affects approximately one in one thousandth newborns.
Guiquan Cai, Xuan Yang, Ting Chen, Fangchun Jin, Jing Ding, Zhenkai Wu   +5 more
doaj   +2 more sources

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Does Percutaneous Achilles Tenotomy Yield Comparable Short-Term Outcomes to Combined Open Achilles Tenotomy with Posterior Capsulotomy in Pediatric Patients with Clubfoot?

Foot & Ankle Orthopaedics, 2019
Category: Hindfoot, Midfoot/Forefoot, Congenital Introduction/Purpose: As the most common musculoskeletal congenital anomaly, clubfoot (congenital talipes equinovarus) represents a commonly-encountered entity for pediatric orthopaedic and foot/ankle ...
Marine Coste BA, Mikhail Tretiakov MD, Neil V. Shah MD, MS, Daniel M. Zuchelli MD, Joanne C. Dekis MD, Scott C. Pascal MD, Leslie N. Davidson MD, Claude B. Scott MD, PhD, Khalid Hesham MD, Jaime A. Uribe MD   +9 more
doaj   +1 more source

Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients

Children, 2018
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a complex congenital deformity of the foot that, left untreated, can limit a person’s mobility by making it difficult and painful to walk. Worldwide, 80% of children born with clubfoot are
Rohit Malhotra, Ashutosh Mohapatra, Geetika Arora, Priyam Choudhury, Hitesh Joshi, Pranav Patel   +5 more
doaj   +1 more source

Assessing awareness and knowledge level of clubfoot among a rural city population in Saudi Arabia: A cross-sectional study

Journal of Family Medicine and Primary Care, 2023
Purpose: Clubfoot is among the most common musculoskeletal congenital anomalies. Poor understanding of clubfoot can cause lack of awareness that leads to complications in treating this condition because of late medical intervention. This is considered as
Majed Shaker Alasbali, Abdulaziz Fahad Altammami, Ahmed Abdullah Alharbi, Muhamad Muslim Aljurfi, Abdullah Ibrahim Alhumaidan, Mohammed Riyadh AlKhudhair, Walid Bandar Almuslmani, Yasser Ibrahim Alkhalife   +7 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Creep Evaluation of (Orthotic) Cast Materials During Simulated Clubfoot Correction [PDF]

, 2012
The Ponseti method is a widely accepted and highly successful conservative treatment of pediatric clubfoot that relies on weekly manipulations and cast applications.
Altiok, H., Cohen, T. L., Harris, Gerald F., Smith, P. A., Tarima, Sergey   +4 more
core   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

ELECTROPHYSIOLOGICAL SUBSTANTIATION OF EFFICACY OF CONGENITAL CLUBFOOT SURGICAL TREATMENT

Travmatologiâ i Ortopediâ Rossii, 2012
Purpose - a complex assessment of the neuromuscular apparatus in different age groups of children with congenital clubfoot before and after surgery. Material and methods.
I. Y. Klychkova, T. S. Vinokurova, I. A. Guseva   +2 more
doaj   +1 more source

Preferences of Pregnant Women and Healthcare Professionals on First‐Trimester Ultrasound Screening for Fetal Anomalies: A Discrete Choice Experiment

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The first‐trimester anomaly scan (FTAS) allows early detection of fetal structural anomalies. Decisions on timing and scan protocol influence its performance. Understanding how pregnant women and healthcare professionals value these aspects is essential for shaping screening programs.
Eline E. R. Lust, Kim Bronsgeest, Ian Smith, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Mireille N. Bekker, Monique C. Haak   +9 more
wiley   +1 more source