Results 71 to 80 of about 84,871 (291)

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +2 more sources

Seeing Through the Face: Robust Facial Diagnosis Enhanced by Landmark Detection and Pose Normalization

Advanced Intelligent Systems, EarlyView.
This study proposes a robust, generalizable new approach for facial type diagnosis. Based on landmark detection and pose normalization, a 94.7% diagnostic accuracy is achieved by Combined Heatmap Regression and Coordinate Regression network. This research makes the AI‐generated preliminary diagnosis more interpretable and reducing the impact of ...
Qianyang Xie, Zixian Jiao, Guo Bai, Huimin Zhu, Dahe Zhang, Hui Li, Haixia Lu, Xin Nie, Qing Li, Duohong Zou, Zhiguo Yin, Peilun Li, Chi Yang   +12 more
wiley   +1 more source

Developmental toxicity of combined ethylbenzene and methylethylketone administered by inhalation to rats [PDF]

, 2006
Pregnant Sprague–Dawley rats were exposed to ethylbenzene (EB; 0, 250, or 1000 ppm) and methylethylketone (MEK; 0, 1000, or 3000 ppm), alone and in combination, by inhalation, for 6 h/day, during days 6–20 of gestation.
Bourges-Abella, Nathalie, Cadot, R., Gallissot, Frédéric, Lambert, A.M., Morel, G., Sabaté, Jean-Philippe, Saillenfait, Anne-Marie   +6 more
core   +1 more source

Characteristics, Management, and Utilization of Muscles in Musculoskeletal Humanoids: Empirical Study on Kengoro and Musashi

Advanced Intelligent Systems, EarlyView.
Musculoskeletal humanoids exhibit rich biomechanical properties that remain insufficiently unified in prior discussions. This article systematically categorizes muscle characteristics into five properties: redundancy, independency, anisotropy, variable moment arm, and nonlinear elasticity, and analyzes their combined effects on control.
Kento Kawaharazuka, Kei Okada, Masayuki Inaba   +2 more
wiley   +1 more source

Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review

SAGE Open Medical Case Reports, 2019
This report discusses a case of linear and whorled nevoid hypermelanosis associated with cerebellar atrophy, ocular and developmental anomalies compatible with Joubert syndrome.
Carolina Fernandes, Andréanne Waddell, Sara-Élizabeth Jean   +2 more
doaj   +1 more source

AI‐Assisted IoT‐Enabled ECG Monitoring: Integrating Foundational and Generative AI Tools for Sustainable Smart Healthcare—Recent Trends

AI &Innovation, EarlyView.
ABSTRACT The rapid evolution of the Internet of Things (IoT) has significantly advanced the field of electrocardiogram (ECG) monitoring, enabling real‐time, remote, and patient‐centric cardiac care. This paper presents a comprehensive survey of AI assisted IoT‐based ECG monitoring systems, focusing on the integration of emerging technologies such as ...
Amrita Choudhury, Kandarpa Kumar Sarma, Lachit Dutta   +2 more
wiley   +1 more source

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder

Diagnostics
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn’s phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral
Valerica Belengeanu, Diana Marian, Horia Ademir Stana, Carolina Cojocariu, Cristina Popescu, Ioana Elena Lile   +5 more
doaj   +1 more source

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

The association between Ponticulus Posticus and Dental Agenesis: a retrospective study [PDF]

, 2018
OBJECTIVE: Neural tube defects may increase the risk of an abnormal development of skull, vertebral column and teeth formation, including dental agenesis in non syndromic patients. The association between the presence of a congenital Dental Agenesis (DA)
Barbato, Ersilia, Galluccio, Gabriella, Leonardi, Rosa Maria, Putrino, Alessandra   +3 more
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