Article
Multidisciplinary Sciences
Anna-Clara Esbjornsson, Arne Johansson, Hanneke Andriesse, Henrik Wallander
Summary: This study aimed to estimate the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden and describe the characteristics of the clubfoot population. Data from a national register was used to calculate the birth prevalence, which was found to be 1.24/1000 live births for isolated clubfoot and 1.35/1000 live births for non-isolated clubfoot. Children with non-isolated clubfoot had more severe deformities and atypical signs compared to those with isolated clubfoot. These findings can be used for planning clubfoot treatment and evaluating trends in clubfoot birth prevalence.
Article
Pediatrics
Jiangchao Zhang, Ningqing Wang, Haixiang Lv, Zhenjiang Liu
Summary: This study evaluated the effectiveness of the Ponseti method for clubfoot correction using MRI and found that the method successfully corrected various deformities. However, incomplete correction was observed regarding the adduction deformity of the transverse talonavicular angle, and the method may cause lateral subluxation of the navicular on the transverse plane.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Maryum Naseer Butt, Wajida Perveen, Carmen-Iulia Ciongradi, Dan Iulian Alexe, Misbah Marryam, Laique Khalid, Daniel Lucian Dobreci, Ioan Sarbu
Summary: The study aimed to evaluate and compare the outcomes of the Ponseti method for different types of clubfoot. The results showed that the effectiveness of the method varied depending on the type of clubfoot. For idiopathic clubfoot, whether untreated or recurrent, the Ponseti method did not produce significant differences in outcome. However, for syndromic clubfoot, the method had poorer results.
Article
Medicine, General & Internal
Hakan Yolacan, Serkan Guler, Ramadan Ozmanevra
Summary: This study conducted a bibliometric analysis to comprehensively analyze the research on clubfoot. The United States, the United Kingdom, and India were the top contributing countries, while the Journal of Pediatric Orthopedics and Clinical Orthopedics and Related Research were the most productive journals. Dobbs MB and Shriners Hospital Children were the most active author and institution, respectively. The trend topics in clubfoot research included Pirani score, Ponseti method, tenotomy, recurrence, neglect, bracing, and gait analysis.
Article
Genetics & Heredity
Anna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, Flavio Faletra, Mariateresa Di Stazio, Costantina Racano, Giovanni Trisolino, Stefania Cappellani, Maurizio De Pellegrin, Ignazio d'Addetta, Giuseppe Carluccio, Sergio Monforte, Antonio Andreacchio, Daniela Dibello, Adamo P. d'Adamo
Summary: Current research indicates that the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic congenital clubfoot is low, with related mutations found in only a minority of cases. This suggests that the development of clubfoot may involve the involvement of other genes and factors.
Article
Orthopedics
Manye Yao, Chunxu Zhang, Weyland Cheng, Junhong Guo, Shijie Dong
Summary: An observational study evaluated the recovery of older children with relapsed congenital clubfoot who underwent a second Achilles tenotomy, showing slower tendon recovery on the third week post-procedure, possibly due to the location of tenotomy being further away from the musculotendinous junction where extrinsic healing mechanisms take place.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2021)
Article
Multidisciplinary Sciences
Georgia Gosse, Emily Ward, Auburn McIntyre, Helen A. Banwell
Summary: The study evaluated the reliability and validity of the weight-bearing lunge test in a population with Congenital Talipes Equinovarus, showing good to excellent reliability and validity among clinicians, clinicians in training, and parents/carers. The test could be used as an assessment measure of dorsiflexion range of motion, with potential for parents/carers to use it at home for monitoring purposes.
Article
Medicine, General & Internal
Shiyu Sun, Zhonghua Zhang, Jing Zhao, Xinqiang Lan
Summary: This study investigated the application of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique to detect microdeletion/microduplication regions using a single probe. The study involved 2218 pregnant women who underwent chromosome karyotyping and BoBs technique. Results showed that 22 cases of microdeletion/microduplication were detected with a single probe, which correlated with the results from chromosome microarray analysis (CMA). The study concludes that the BoBs technique with a single probe provides comprehensive guidance for prenatal diagnosis.
ARCHIVES OF MEDICAL SCIENCE
(2023)
Article
Obstetrics & Gynecology
Jianlong Zhuang, Chunnuan Chen, Yuying Jiang, Qi Luo, Shuhong Zeng, Chunling Lv, Yuanbai Wang, Wanyu Fu
Summary: The BoBs assay showed high success rates in detecting chromosomal abnormalities in pregnant women with high-risk factors. It rapidly detected aneuploidies and microdeletion/microduplication syndromes, including cases missed by karyotype analysis. The combination of BoBs assay and karyotyping may offer a more effective approach to prenatal diagnosis of chromosomal abnormalities.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Genetics & Heredity
Ruibin Huang, Xin Yang, Hang Zhou, Fang Fu, Ken Cheng, You Wang, Chunling Ma, Ru Li, Xiangyi Jing, Jin Han, Li Zhen, Min Pan, Dongzhi Li, Can Liao
Summary: This study demonstrates the usefulness of CMA for prenatal genetic diagnosis of fetal TE, with higher probability of clinically significant variants associated with TE with structural malformation.
Article
Pediatrics
Kate N. Moss, Pamela A. Hennessy, Marianne McCormick, Michael A. Doumit
Summary: This observational study examines the pain response of awake infants undergoing Achilles tenotomy for CTEV. The results show that, despite the use of multiple pain relief measures, awake infants experience high levels of pain during the procedure.
CLINICAL PEDIATRICS
(2023)
Article
Pediatrics
Klara Janatova, Tereza Novakova, Frantisek Lopot
Summary: Clubfoot is a common birth deformity and its prevalence varies globally. This study analyzed the incidence of clubfoot in the Czech Republic over a 14-year period. The incidence was found to be higher than previous European studies and varied significantly among different regions of the country.
Article
Pediatrics
Ningqing Wang, Jiangchao Zhang, Haixiang Lv, Zhenjiang Liu
Summary: This study investigated the potential genes and signaling pathways involved in congenital talipes equinovarus (CTEV). The results showed that COL1A2 and AKT3 genes were related to CTEV, and the PI3K-AKT3 signaling pathway might play a crucial role in the regulation of CTEV's pathological changes. These findings provide new insights for the mechanism investigation and prenatal diagnosis of CTEV.
FRONTIERS IN PEDIATRICS
(2022)
Article
Obstetrics & Gynecology
Edouard Leyne, Olivia Anselem, Penelope Jordan, Alexandre J. Vivanti, Alexandra Benachi, Laurent Salomon, Mathilde Jacquier, Jean-Marie Jouannic, Ferdinand Dhombres, Tatiana Cambier, Jonathan Rosenblatt, Emmanuelle Pannier, Francois Goffinet, Vassilis Tsatsaris, Yoann Athiel
Summary: This study evaluated the benefit of cytogenetic testing by amniocentesis for isolated bilateral talipes equinovarus diagnosed by ultrasound. Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally, the risk of chromosomal aberration still exceeds the risks of amniocentesis.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2023)
Article
Genetics & Heredity
Alyssa S. Wetzel, Benjamin W. Darbro
Summary: This article provides a comprehensive list of microdeletion and microduplication syndromes (MMS) reported in the medical literature to date, along with relevant references and data descriptions. This list will contribute to further research and clinical diagnosis.
Article
Genetics & Heredity
Genay O. Pilarowski, Hilary J. Vernon, Carolyn D. Applegate, Leandros Boukas, Megan T. Cho, Christina A. Gurnett, Paul J. Benke, Erin Beaver, Jennifer M. Heeley, Livija Medne, Ian D. Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B. Henderson, Ingrid M. Wentzensen, Berivan Baskin, Maria J. Guillen Sacoto, Gregory D. Bowman, Hans T. Bjornsson
JOURNAL OF MEDICAL GENETICS
(2018)
Article
Orthopedics
Samuel B. Rudnick, Hannah Zabriskie, Justin Ho, Christina A. Gurnett, Matthew B. Dobbs
JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
(2018)
Article
Orthopedics
Matthew B. Dobbs, Steven L. Frick, Vincent S. Mosca, Ellen Raney, Harold J. VanBosse, Joel A. Lerman, Vishwas R. Talwalkar, Karen Steger-May, Christina A. Gurnett
JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
(2017)
Article
Orthopedics
Gabe Haller, Hannah Zabriskie, Shelby Spehar, Timothy Kuensting, Xavier Bledsoe, Ali Syed, Christina A. Gurnett, Matthew B. Dobbs
JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
(2018)
Article
Genetics & Heredity
Amanda Rogers, Paul Golumbek, Elena Cellini, Viola Doccini, Renzo Guerrini, Carina Wallgren-Pettersson, Ann-Charlotte Thuresson, Christina A. Gurnett
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2018)
Article
Biochemistry & Molecular Biology
Anas M. Khanshour, Ikuyo Kou, Yanhui Fan, Elisabet Einarsdottir, Nadja Makki, Yared H. Kidane, Juha Kere, Anna Grauers, Todd A. Johnson, Nandina Paria, Chandreshkumar Patel, Richa Singhania, Nobuhiro Kamiya, Kazuki Takeda, Nao Otomo, Kota Watanabe, Keith D. K. Luk, Kenneth M. C. Cheung, John A. Herring, Jonathan J. Rios, Nadav Ahituv, Paul Gerdhem, Christina A. Gurnett, You-Qiang Song, Shiro Ikegawa, Carol A. Wise
HUMAN MOLECULAR GENETICS
(2018)
Article
Multidisciplinary Sciences
Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
NATURE COMMUNICATIONS
(2018)
Article
Genetics & Heredity
Mia J. Konjikusic, Patra Yeetong, Curtis W. Boswell, Chanjae Lee, Elle C. Roberson, Rungnapa Ittiwut, Kanya Suphapeetiporn, Brian Ciruna, Christina A. Gurnett, John B. Wallingford, Vorasuk Shotelersuk, Ryan S. Gray
Article
Medicine, Research & Experimental
Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su
EMBO MOLECULAR MEDICINE
(2019)
Article
Genetics & Heredity
Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, Jose Morcuende, Philip Giampietro, Cathleen Raggio, Nancy Miller, Yared Kidane, Carol A. Wise, Ina Amarillo, Nephi Walton, Mark Seeley, Darren Johnson, Conner Jenkins, Troy Jenkins, Matthew Oetjens, R. Spencer Tong, Todd E. Druley, Matthew B. Dobbs, Christina A. Gurnett
JOURNAL OF MEDICAL GENETICS
(2019)
Article
Medicine, Research & Experimental
Julia Whittle, Lilian Antunes, Mya Harris, Zachary Upshaw, Diane S. Sepich, Aaron N. Johnson, Mayssa Mokalled, Lilianna Solnica-Krezel, Matthew B. Dobbs, Christina A. Gurnett
EMBO MOLECULAR MEDICINE
(2020)
Article
Clinical Neurology
Michael R. Sherby, Tyler J. Walsh, Albert M. Lai, Julie A. Neidich, Joyce E. Balls-Berry, Stephanie M. Morris, Richard Head, Christopher G. Prener, Jason G. Newland, Christina A. Gurnett
Summary: The study found lower rates of SARS-CoV-2 screening test positivity among staff and students in schools for children with IDD compared to community rates, with low in-school transmission rates among those quarantined for exposure. Some mitigation strategies proved effective in reducing transmission.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2021)
Article
Clinical Neurology
Francesco Miceli, Renzo Guerrini, Mario Nappi, Maria Virginia Soldovieri, Elena Cellini, Christina A. Gurnett, Lucio Parmeggiani, Davide Mei, Maurizio Taglialatela
Summary: This study compared the functional consequences of different KCNA1 gene variants in neurological diseases, revealing that pore mutations lead to loss-of-function effects, while voltage sensor mutations cause a hyperpolarizing shift in the activation process. There is a novel correlation between in vitro phenotypes (GoF vs LoF) and clinical presentation (mild vs severe).
Article
Orthopedics
Matthew B. Dobbs, Christina A. Gurnett
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
(2017)
Article
Genetics & Heredity
Philip F. Giampietro, Olivier Pourquie, Cathy Raggio, Shiro Ikegawa, Peter D. Turnpenny, Ryan Gray, Sally L. Dunwoodie, Christina A. Gurnett, Benjamin Alman, Kenneth Cheung, Kenro Kusumi, Nancy Hadley-Miller, Carol A. Wise
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2018)