Results 211 to 220 of about 247,055 (304)

Cooptimized Sensing and Sole Mechanics Enable Embodied‐Intelligence Design of User‐Specific Smart Footwear

open access: yesAdvanced Intelligent Systems, EarlyView.
An embodied codesign framework for smart footwear is presented, jointly tuning lattice mechanics and sensing for personalized plantar pressure monitoring. By integrating pneumatic sensing within 3D‐printed lattice soles, the system achieves accurate real‐time centre‐of‐pressure tracking with reduced sensor count and energy demand, demonstrating how ...
Fengyu Zhong   +3 more
wiley   +1 more source

Exploring the Burden on Patients Living With and Receiving Treatment for Immune Thrombocytopenia (ITP): Patient and Physician Perceptions From the ITP World Impact Survey (I‐WISh) 2.0

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Limited data exist on how patients and physicians perceive immune thrombocytopenia (ITP) symptoms and treatment‐related burden. I‐WISh (ITP World Impact Survey) 2.0 surveyed 1018 patients and 431 physicians in 15 countries to characterize the impact of ITP and its treatments on patients.
Nichola Cooper   +17 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

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