Results 61 to 70 of about 48,690 (312)

Treatment of congenital foot deformity in children

Yakut Medical Journal, 2020
Foot deformations in children with no proper correction are often accompanied by pain, functional changes and high risk of developing disability, which determines the high social significance of the nosology. The aim of this study was to evaluate the effectiveness of treatment of children's foot deformations in outpatient and inpatient settings. In the
openaire   +1 more source

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

Trends in congenital clubfoot prevalence and co-occurring anomalies during 1994–2021 in Denmark: a nationwide register-based study

BMC Musculoskeletal Disorders, 2023
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 ...
Paula L. Hedley, Ulrik Lausten-Thomsen, Kristin M. Conway, Klaus Hindsø, Paul A. Romitti, Michael Christiansen   +5 more
doaj   +1 more source

The lived experience of Dupuytren's disease of the hand [PDF]

, 2009
This article is made available through the Brunel Open Access Publishing Fund.Aims: To describe patients’ experiences of living with Dupuytren’s disease. Background. Dupuytren’s disease is a chronic, progressive deformity of the hand which limits active
Byrne, G
core   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Outcomes of Eight‐Plate Epiphysiodesis for Residual Clubfoot Deformities

Orthopaedic Surgery, 2022
Objective The outcome of congenital clubfoot treatment is still challenging if the feet deformities are not completely corrected. Here we explore a minimal invasive procedure with an eight‐plate implant to correct the residual forefoot adduction ...
Haoyu Zhao, Hongjiang Ruan, Yuting Cao, Hengfeng Yuan, Qinglin Kang   +4 more
doaj   +1 more source

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking [PDF]

, 2019
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is ...
AziziMalamiri, R, Bayram, N, Bibi, F, Cirak, S, Cooper, E, Efthymiou, S, Galehdari, H, Houlden, H, Jamshidi, Y, Kaçar Bayram, A, Mazaheri, N, Naghibzadeh, K, Nedic, I, Ozdemir, O, Per, H, Pergrande, M, Salpietro, V, Sami Güven, A, Shalbafan, B, Shariati, G, Sprute, R, Stumpfe, K, Sultan, T, Tajik, M, Wang, H, Yaşar, M, Zeighami, J   +26 more
core   +3 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Evaluation of the Efficiency of Double Osteotomy Technique for Residual Metatarsus Adductus Deformity

Namık Kemal Tıp Dergisi, 2023
Aim:The most common congenital foot deformity in the neonatal period is metatarsus adductus. The aim of the treatment is to correct the supination of the tarsometatarsal joints and to provide the correct metatarsal alignment.
Mehmet ALBAYRAK
doaj   +1 more source