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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Am J Med Genet A
December 2024
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.
View Article and Find Full Text PDFCoronavirus-disease-2019-associated Stevens-Johnsons syndrome in a 15-year-old boy: a case report and review of the literature.
J Med Case Rep
October 2024
Infectious Diseases Department, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), No. 23976 Jingshi Road, Jinan, 250022, China.
Article Synopsis
- Stevens-Johnson syndrome (SJS) is a severe condition often triggered by drugs or infections, and there has been an increase in cases during the COVID-19 pandemic, especially in children.
- A 15-year-old boy in China developed SJS after contracting COVID-19, showing symptoms like oral ulcers, a rash, and severe pain, and was successfully treated with high-dose steroids and supportive care.
- Health professionals need to recognize the link between COVID-19 and SJS in children to enable early diagnosis and effective treatment, as the condition can lead to serious health complications.
Flexible Arc-Shaped Micro-Fiber Bragg Grating Array Three-Dimensional Tactile Sensor for Fingertip Signals Detection and Human Pulse Monitoring.
ACS Appl Mater Interfaces
August 2024
IOT Photonic Integrated Devices and Systems Laboratory, Shenzhen Technology University, Shenzhen 518118, China.
A flexible arc-shaped micro-Fiber Bragg Grating (mFBG) array three-dimensional tactile sensor for fingertip signal detection and human pulse monitoring is presented. It is based on a three mFBGs array which is embedded in an arc-shaped poly (dimethylsiloxane) (PDMS) elastomer, which can effectively discriminate the normal force, left force, and right force by monitoring the reflected intensity variation of the three mFBGs. Different from the traditional FBG sensors, this sensor measures force by detecting changes in light intensity, effectively avoiding the wavelength cross-sensitivity impact of temperature variations on the sensor performance.
View Article and Find Full Text PDFJuvenile diabetes and systemic sclerosis: just a coincidence?
Pediatr Rheumatol Online J
September 2022
Pediatric Rheumatology Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
Background: Limited joint mobility (LJM), previously known as cheiroarthropathy, refers to the presence of reduced extension at the finger joints in people with diabetes and may be associated with scleroderma-like syndromes such as diabetic sclerodactyly. While scleroderma-like syndromes and LJM have been observed in patients with long-term diabetes and associated complications, the coexistence of diabetes with Juvenile systemic sclerosis (jSSc) is rarely described.
Case Presentation: We describe the case of a 14-year-old boy with long-lasting type 1 diabetes (T1D) and suspected LJM associated with Raynaud phenomenon, sclerodactyly and tapering of the fingertips.
Paraneoplastic acral vascular syndrome in a patient with metastatic melanoma under immune checkpoint blockade.
BMC Cancer
May 2017
Department of Dermatology, Ruhr-University Bochum, Gudrunstr. 56, 44791, Bochum, Germany.
Background: Paraneoplastic acral vascular syndrome (PAVS) is a rare phenomenon which is observed in patients with adenocarcinomas and other malignancies. Various potential pathogenic mechanisms such as tumour invasion of sympathetic nerves, hyperviscosity, hypercoagulability, vasoactive tumour-secreted substances, and immunological mechanisms have been suggested.
Case Presentation: We report a 60-year-old Caucasian male attended our hospital with a bulky lymph node mass in the right axilla.
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