Results 111 to 120 of about 434,399 (248)

Bioinspired Fabric Ligament with Tunable Stiffness for Reproducing 3D Lumbar Spine Kinematics

Small Structures
Lumbar spine ligaments play a critical role in maintaining spine joint stability and structural integrity within segmental biomechanics. However, most existing lumbar spine models and simulators neglect ligament contributions, leading to incomplete or ...
Guangsheng Song, Weilong Jin, Guanghui Li, Yushan Sun, Jianan Wu, Hounan Song, Yuyang Wei, Kaize Wang, Zhende Jiang, Zhihui Qian, Lei Ren, Luquan Ren   +11 more
doaj   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Lumbar offset distance: A simplified metric for evaluation of the lumbar spine alignment

Journal of Craniovertebral Junction and Spine
Background: A healthy lower back is essential for optimal spinal function and overall wellness. Magnetic resonance imaging (MRI) has become the gold standard in assessing lumbar spine disease.
Kapil Shirodkar, Sai Niharika Gavvala, Sisith Ariyaratne, Nathan Jenko, Neha Nischal, Karthikeyan P. Iyengar, Jwalant Mehta, Rajesh Botchu   +7 more
doaj   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Sinicization of the Hospital for Special Surgery Lumbar Spine Surgery Expectations Survey and its reliability and validity test

Huli yanjiu
ObjectiveTo translate the Hospital for Special Surgery Lumbar Spine Surgery Expectations Survey(HSS⁃LSSES) into Chinese version and test its reliability and validity.MethodsThe Brislin translation model was adopted for translation,back⁃translate,cross ...
HUANG Jiyun, WANG Shuang, XIA Fan, LI Jiuqun   +3 more
doaj  

Dietary phosphorus intake modifies the association between total cholesterol and lumbar spine bone mineral density: results from NHANES 2011–2016

Frontiers in Nutrition
BackgroundThe connection between total cholesterol (TC) and lumbar spine bone mineral density (BMD) is well-documented, yet the role of dietary phosphorus intake in this relationship is not fully understood. This cross-sectional study aims to explore how
Dechen Yu, Pan Li, Kangkang Su, Xiongfei Cao, Xiaolei Yu, Zhengxu Ye, Mo Li   +6 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Real-world treatment outcomes in pregnancy and lactation-associated osteoporosis: a nationwide multicenter cohort study

Frontiers in Endocrinology
BackgroundPregnancy and lactation-associated osteoporosis (PLO) is an uncommon cause of fragility fractures in young women, and the optimal treatment strategy remains unclear.
Mehmet Sözen, Zeynep Cantürk, Özen Öz Gül, Mustafa Sait Gönen, Hande Mefkure Özkaya, Serhat Uysal, Esra Şüheda Hatipoğlu, Rukiye Dilara Tekin Uzman, Aysen Akalın, Erman Çakal, Göknur Yorulmaz, Sema Hepşen, Banu Kara Kıvanç, Neslihan Kurtulmuş, Özlem Zeynep Akyay, Zeliha Hekimsoy, Özlem Turhan İyidir, Fatma Ela Keskin, Zeynel Abidin Sayiner, Ayşe Kubat Üzüm, Ilgın Yıldırım Şimşir, Ceyla Konca Degertekin, Ömercan Topaloğlu, Sevde Nur Fırat, Damla Köksalan, Berrin Çetinarslan, Alev Selek, Emre Gezer, Saadet Acar, Adnan Batman   +29 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source