Results 51 to 60 of about 1,373 (178)

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

Enhancing the Evaluation of Central Precocious Puberty in Female Patients via Age‐Specific Models Incorporating Clinical Biomarkers

International Journal of Clinical Practice, Volume 2026, Issue 1, 2026.
Objective This investigation sought to develop and prospectively validate age‐specific diagnostic models based on routinely accessible clinical biomarkers. These models differentiate central precocious puberty (CPP) from peripheral precocious puberty (PPP) in girls, providing a pragmatic strategy to reduce superfluous gonadotropin‐releasing hormone ...
Shuyu Xie, Yingxuan Huang, Chao Meng, Qiongjin Wang, Guangzhong Zhou, Yu Jin, Yingmin Zhao, Weiwei Cao, Jialin Li, Yuehong Tao, Zhiwen Luo   +10 more
wiley   +1 more source

Congenital Hypothyroidism: Long‐Term Growth and Intellectual Outcomes With a Lower Initial Levothyroxine Dose

Clinical Endocrinology, Volume 103, Issue 6, Page 895-905, December 2025.
ABSTRACT Objectives This study aims to review the long‐term outcome of congenital hypothyroidism (CH) and whether patient‐ or treatment‐related factors impact the outcomes, especially focusing on the initial Levothyroxine dose. Methods This is a retrospective, cross‐sectional study of the children diagnosed with CH who received Levothyroxine at Ajou ...
Jun‐Hong Park, Jae Hyuk Oh, Min Hyung Cho, Young Suk Shim, Hae Sang Lee   +4 more
wiley   +1 more source

Intelligent Bone Age Assessment: An Automated System to Detect a Bone Growth Problem Using Convolutional Neural Networks with Attention Mechanism

Diagnostics, 2021
Skeletal bone age assessment using X-ray images is a standard clinical procedure to detect any anomaly in bone growth among kids and babies. The assessed bone age indicates the actual level of growth, whereby a large discrepancy between the assessed and ...
Mohd Asyraf Zulkifley, Nur Ayuni Mohamed, Siti Raihanah Abdani, Nor Azwan Mohamed Kamari, Asraf Mohamed Moubark, Ahmad Asrul Ibrahim   +5 more
doaj   +1 more source

Current concept on assessment and management of anterior cruciate ligament injury in skeletally immature athletes

Journal of Experimental Orthopaedics, Volume 12, Issue 4, October 2025.
Abstract The incidence of anterior cruciate ligament (ACL) injuries in paediatric and skeletally immature patients is rising, proportionally to the worldwide spread of sport participation. However, differently from adults, injuries in young patients pose serious challenges regarding their management, especially when surgery is required.
Alberto Grassi, Kyle Borque, Claudio Rossi, Bruna Cascone, Francesco Della Villa, Stefano Zaffagnini   +5 more
wiley   +1 more source

Artificial Intelligence-Based Models for Automated Bone Age Assessment from Posteroanterior Wrist X-Rays: A Systematic Review

Applied Sciences
Introduction: Bone-age assessment using posteroanterior left hand–wrist radiographs is indispensable in pediatric endocrinology and forensic age determination.
Isidro Miguel Martín Pérez, Sofia Bourhim, Sebastián Eustaquio Martín Pérez   +2 more
doaj   +1 more source

Reproducibility and inter-observer agreement of Greulich-Pyle protocol to estimate skeletal age among female adolescent soccer players

BMC Pediatrics, 2020
Background Skeletal age (SA) is considered the best method of assessing biological maturation. The aim of this study was to determine intra-observer (reproducibility) and inter-observer agreement of SA values obtained via the Greulich-Pyle (GP) method ...
Yuri V. Faustino-da-Silva, Diogo V. Martinho, Manuel J. Coelho-e-Silva, João Valente-dos-Santos, Jorge Conde, Tomás G. Oliveira, Enio R. V. Ronque, Ricardo R. Agostinete, Rômulo A. Fernandes, Lauren B. Sherar   +9 more
doaj   +1 more source

Age‐specific over‐the‐top techniques for physeal sparing anterior cruciate ligament (ACL) reconstruction in skeletally immature patients: Current concepts for prepubescents to older adolescents

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 33, Issue 10, Page 3510-3522, October 2025.
Abstract Tailored surgical strategies for anterior cruciate ligament (ACL) reconstruction in skeletally immature patients are presented, emphasizing techniques to minimize growth plate damage and ensure stability. As ACL injuries in youth increase, delaying surgery can lead to joint damage and poor recovery outcomes.
Alberto Grassi, Kyle A. Borque, Mitzi S. Laughlin, Matthew A. Tao, Stefano Zaffagnini   +4 more
wiley   +1 more source

Baseline characteristics of patients on growth hormone therapy: Experience of two centers from South India

Journal of Dr. NTR University of Health Sciences, 2015
Objective: The objective of this study is to determine the age at presentation, etiology and other characteristics of short children who are on growth hormone therapy (GHT) at a tertiary care hospital.
Babulreddy Hanmayyagari, Mounika Guntaka, Sunitha Chadalavada, Voleti Sri Nagesh, Sudhakar Reddy Pendyala, Sridevi Patnala   +5 more
doaj   +1 more source

Tibial Tubercle Apophyseal Stage to Determine Skeletal Age in Pediatric Patients Undergoing ACL Reconstruction: A Validation and Reliability Study

Orthopaedic Journal of Sports Medicine, 2021
Background: Anterior cruciate ligament (ACL) injuries demand individualized treatments based on an accurate estimation of the child’s skeletal age.
Mihir S. Dekhne MS, Isabelle D. Kocher, Zaamin B. Hussain MD, EdM, Aliya G. Feroe MPH, Saritha Sankarankutty MBBS, MPH, Kathryn A. Williams MS, Benton E. Heyworth MD, Matthew D. Milewski MD, Mininder S. Kocher MD, MPH   +8 more
doaj   +1 more source