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Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFOutcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.
J Clin Immunol
January 2025
Population Health Sciences Institute, Newcastle University, Newcastle-Upon-Tyne, UK.
Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic stem cell transplantation (HSCT) has been suggested as a potential curative therapy, the extent to which disease may be driven by extra-hematopoietic effects of RIPK1-deficiency, which are non-amenable to HSCT, is not clear.
View Article and Find Full Text PDFAssociations of plasma biomarkers with cerebral perfusion and structure in Alzheimer's disease.
Transl Psychiatry
January 2025
Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China.
Plasma biomarkers have great potential in the screening, diagnosis, and monitoring of Alzheimer's disease (AD). However, findings on their associations with cerebral perfusion and structural changes are inconclusive. We examined both cross-sectional and longitudinal associations between plasma biomarkers and cerebral blood flow (CBF), gray matter (GM) volume, and white matter (WM) integrity.
View Article and Find Full Text PDFToward At-Home and Wearable Monitoring of Female Hormones: Emerging Nanotechnologies and Clinical Prospects.
ACS Sens
January 2025
School of Materials Science and Engineering, Guangzhou Key Laboratory of Flexible Electronic Materials and Wearable Devices, Key Laboratory for Polymeric Composite and Functional Materials of Ministry of Education, State Key Laboratory of Optoelectronic Materials and Technologies, Sun Yat-sen University, Guangzhou 510275, People's Republic of China.
Steroid hormones, especially progesterone (P), estradiol (E), and testosterone (T), are key bioactive regulators in various female physiological processes, including growth and development, ovulation, and the reproductive cycle, as well as metabolism and mental health. As lipophilic molecules produced in sex glands, these steroid female hormones can be transported through blood vessels into various body fluids such as saliva, sweat, and urine. However, the ultralow concentration of steroid hormones down to picomolar (pM) level necessitates great demands for ultrasensitive but low-cost analytic tools to implement accurate, point-of-care or even continuous monitoring in a user-friendly fashion.
View Article and Find Full Text PDFIntraventricular Hemorrhage and Survival, Multimorbidity, and Neurodevelopment.
JAMA Netw Open
January 2025
Population Policy and Practice, Great Ormond Street UCL Institute of Child Health, London, United Kingdom.
Importance: Intraventricular hemorrhage (IVH) has proven to be a challenging and enduring complication of prematurity. However, its association with neurodevelopment across the spectrum of IVH severity, independent of prematurity, and in the context of contemporary care remains uncertain.
Objective: To evaluate national trends in IVH diagnosis and the association with survival and neurodevelopmental outcomes at 2 years of age.
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