Results 71 to 80 of about 33,279 (211)

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Kyphosis index obtained in X-ray and with flexicurve assessment in children and young people

Revista Brasileira de Saúde Materno Infantil
Objectives: to assess the concurrent validity of kyphosis index measured in the flexicurve from the correlation of X-rays exams, identifying its accuracy and to assess the thoracic spine in children and young people.
Rafael Paiva Ribeiro, Bárbara Vendramini Marchetti, Eduardo Bojunga de Oliveira, Claúdia Tarragô Candotti   +3 more
doaj   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Comparison of the Efficiency of Two Taping Techniques in Reducing Thoracic Kyphosis among Girls Aged 18-30 Years

Journal of Rehabilitation Sciences and Research, 2019
Background: Kyphosis means an abnormal increase in the curvature of the thoracic region of the vertebral column and refers to a situation where the thoracic kyphosis range is more than forty five degrees. Vertebral column taping seems to be one of the
Farzaneh Moslemi Haghighi, Katayoon Rezaei, Zahra Etminan, Habibollah Lari   +3 more
doaj   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Junctional kyphosis after the treatment of adolescent idiopathic scoliosis

Iranian Journal of Pediatric Surgery, 2016
Introduction: In this retrospective study radiographic review was undertaken in patients treated for AIS (Adolescent Idiopathic Scoliosis), in order to determine the most important preoperative factors that are seen with postoperative junctional kyphosis.
Mohsen Karami, Arash Maleki, Keyvan Mazda, Alireza Mirshemirani   +3 more
doaj   +1 more source

Changes in Foot Biomechanics During Pregnancy: Associations With Plantar Pressure, Low Back Pain and Daily Function in Taiwanese Women

Journal of Foot and Ankle Research, Volume 18, Issue 4, December 2025.
ABSTRACT Background Longitudinal data on pregnancy‐related changes in plantar loading and balance are limited, particularly among Asian populations. This study investigated trimester‐specific alterations in plantar pressure, static and dynamic balance, and pain‐related functional interference in pregnant Taiwanese women.
Meei‐Ling Gau, Hui‐Mei Hsu, Li‐Li Chen, Tzu‐Ling Chen, Wan‐Lin Pan   +4 more
wiley   +1 more source

Comparison of thorasis kyphosis and postural stiffness between elderly females and males in Tehran elderly recreation association

Ṭibb-i Tavānbakhshī, 2013
Background and Aim: Hyperkyphosis can lead to reduced respiratory capacity, postural disturbance and increased risk of falling. Despite the evidences about the more postural stiffness and kyphosis in elderly compared with young subjects and despite the ...
Minoo Khalkhali zavieh, Somayeh Mahmoodiaghdam, Maryam Nodehi, Shiva Mosavi   +3 more
doaj  

Vertebral Growth Modulation Through Periosteal Resection and Fixed Length Deformity Overcorrection: Computational and In Vivo Pilot Study

JOR SPINE, Volume 8, Issue 4, December 2025.
The feasibility of using growth promoting strategies (vertebral periosteal resection and distraction) was investigated via computational and in vivo analysis. Computational analysis demonstrated that there is an increasing mechanical benefit to utilizing concave distraction over convex compression during spinal deformity correction.
Matthew A. Halanski, Cameron Jeffers, Yousuf Abubakr, Minhao Zhou, Brittney Kokinos, Max Twedt, David Bennett, Susan Hamman, Thomas Crenshaw, Grace D. O'Connell, Hani Haider   +10 more
wiley   +1 more source