Results 51 to 60 of about 896 (147)

A novel MMP13 frameshift variant causes short stature via enhanced MMP13–HSPA5 interaction and activated endoplasmic reticulum stress

Clinical and Translational Medicine, Volume 16, Issue 3, March 2026.
The MMP13 R458fs protein is retained in the ER and exhibits enhanced binding to HSPA5, which promotes the dissociation of IRE1α, ATF6, and PERK. This triggers ER stress, leading to increased chondrocyte apoptosis and abnormal expansion of the growth plate hypertrophic zone, ultimately impairing long bone growth and causing short stature.
Huifei Lu, Xin Feng, Suping Dai, Yilin Zhu, Ke Yuan, Yonghua Chen, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang   +9 more
wiley   +1 more source

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN ‐Related Short Stature

Clinical Genetics, Volume 109, Issue 2, Page 374-379, February 2026.
This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman, Ayman Asaly, Hadas Ityel, Ben Pode‐Shakked, Dalit Modan‐Moses, Yael Levy‐Shraga   +5 more
wiley   +1 more source

A Comprehensive Review of Artificial Intelligence Methods in Bone Age Assessment

Healthcare Technology Letters, Volume 13, Issue 1, January/December 2026.
ABSTRACT Bone age reflects individual skeletal maturity and is an important factor in the follow‐up and monitoring of growth and development in children. Determination of bone age by paediatricians has remained one of the most typical indications that require the use of radiology, and the historical method by which radiologists determine bone age is ...
Mohsen Borjalizadeh, Farshid Babapour Mofrad, Midya Yousefzamani   +2 more
wiley   +1 more source

Automatic bone age assessment: a deep learning case study on the Brazilian population with a supporting mobile application prototype

Scientific Reports
Bone Age Assessment is essential for monitoring physiologic and abnormal growth of children and adolescents, allowing the identification of skeletal maturation.
Rafael do Amaral Teodoro, Filipe Verrone de Lima, Mirela Popa, Gustavo Scalabrini Sampaio, Cristiane Kochi, Carlos Alberto Longui, Leandro Augusto da Silva   +6 more
doaj   +1 more source

Skeletal age assessment in black African children in Kenya: Applicability of the Greulich and Pyle method

, 2022
Background: One of the most popular methods used for skeletal age assessment is Greulich and Pyle method which was based on a study done in the 1940s on growth and development in Caucasian North American children. Objective: This study aimed to determine
Muriithi, I. M., Othieno, P., Kinoti, C. K.   +2 more
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Pycnodysostosis Unveiled: Craniofacial and Dental Manifestations in Focus

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Pycnodysostosis refers to an uncommon autosomal recessive developmental anomaly, which results in decreased bone remodeling, manifesting itself in a variety of clinical and radiographic displays. We report two cases involving two sisters aged 12.5 and 8 years old from a consanguineous marriage.
Khaoula M′Rabt, Soufiane Kharraz, Hind Ramdi, Fatima Zaoui, Abdelali Halimi, Hannah Wesley   +5 more
wiley   +1 more source

Skeletal Age Assessment According to The Greulich and Pyle Atlas in Different Skeletal Malocclusions

Turkish Journal of Orthodontics, 2012
Aim:To compare the skeletal age (SA) of the patients with and without different sagittal skeletal malocclusions of the jaws and to compare differences between males and females.Subjects and Methods:The sample comprised 120 patients (mean age 12.00±1.10 ...
Mevlüt Çelikoğlu, Doğan Kılkış, Mehmet Bayram, Metin Nur   +3 more
doaj   +1 more source

Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss

Human Mutation, Volume 2026, Issue 1, 2026.
PNPLA6 is a conserved lysophospholipase essential for maintaining nervous system integrity. Biallelic mutations in PNPLA6 have been identified in individuals with a broad spectrum of disorders that can include ataxia, vision loss, and pituitary hormone deficiency.
Sebastian Vishnopolska, James Liu, Maria Andrea Camilletti, Julian Martinez Mayer, Lucia Iglesias Garcia, Michelle Brinkmeier, Elisa Vaiani, Sofia Hebe Vidal, Marta Ciaccio, María Isabel Di Palma, Alicia Belgorosky, Marcelo Marti, Robert B. Hufnagel, Sally A. Camper, Maria Ines Perez-Millan, Elfride De Baere   +15 more
wiley   +1 more source

Inteligencia Artificial vs Greulich Pyle : estudio comparativo para determinar la edad ósea entre niños normales y con sospecha de talla baja que acuden al Hospital Axxis, Quito-Ecuador, 2022

, 2022
Aim: To evaluate the concordance of a computer system based on Artificial Intelligence (AI) for determining bone age in children with respect to the Greulich-Pyle Method. Methods: A cross-sectional diagnostic test was carried out, in which a sample of
Calero Baquerizo, Juan José
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