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Analysis of pulmonary sequestration cases, based on the 11-year birth defects surveillance data of Changsha hospitals.
Sci Rep
January 2025
Office of the National Agency for Drug Clinical Trials, Changsha Hospital for Maternal, Child Health Care of Hunan Normal University, 416 Chengnan Dong Rd, Yuhua, Changsha, 410007, Hunan, China.
Pulmonary sequestration (PS) is a rare congenital malformation that is characterized by the absence of a connection between a portion of the lung tissue and the tracheobronchial tree, with blood supply from arteries throughout the body. Abnormal lung tissue cannot perform the normal gas exchange function. In the absence of timely diagnosis and early intervention, some cases may need labor induction, and some of the infants who survive may develop symptoms in childhood.
View Article and Find Full Text PDFHigh-density multielectrode arrays bring cellular resolution to neuronal activity and network analyses of corticospinal motor neurons.
Sci Rep
January 2025
Department of Neurology, Feinberg School of Medicine, Northwestern University, 303 E. Chicago Ave, Chicago, IL, 60611, USA.
Corticospinal motor neurons (CSMN), located in the motor cortex of the brain, are one of the key components of the motor neuron circuitry. They are in part responsible for the initiation and modulation of voluntary movement, and their degeneration is the hallmark for numerous diseases, such as amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia, and primary lateral sclerosis. Cortical hyperexcitation followed by in-excitability suggests the early involvement of cortical dysfunction in ALS pathology.
View Article and Find Full Text PDFCorneal Alterations in Patients with Osteogenesis Imperfecta: An in vivo Corneal Confocal Microscopy Study.
Clin Ophthalmol
December 2024
Department of Sense Organs, Sapienza University, Rome, Italy.
Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disorder of the connective tissue. Despite recent attention to corneal abnormalities in OI, understanding remains limited. This study aimed to comprehensively evaluate corneal changes in a large sample of OI patients compared to controls using in vivo confocal microscopy (IVCM).
View Article and Find Full Text PDFAppraisal of the evidence linking hereditary α-tryptasemia with mast cell disorders, hypermobility and dysautonomia.
Allergy Asthma Proc
January 2025
From the Division of Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, California and.
Since its first description more than a decade ago, our understanding of the clinical impact of hereditary alpha-tryptasemia has continued to evolve. First considered to be a genetic disorder with a subset of patients having a syndromic presentation composed of connective tissue abnormalities, symptoms of autonomic dysfunction, and findings of mast cell activation, we now know that hereditary alpha-tryptasemia is a common genetic trait and modifier of mast cell-mediated reactions. More recent studies have shown some previously held associations with congenital hypermobility and postural orthostatic tachycardia syndrome (POTS) to be lacking, and illuminated previously unappreciated associations with clonal and nonclonal mast cell disorders.
View Article and Find Full Text PDFSmall spheroids for head and neck cartilage tissue engineering.
Sci Rep
December 2024
Department of Otorhinolaryngology, Head and Neck Surgery, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
The demand for cartilage reconstruction in the head and neck region arises frequently due to trauma, malignancies, and hereditary diseases. Traditional tissue engineering produces cartilage from a small biopsy by combining biomaterials and expanded cells. However, this top-down approach is associated with several limitations, including the non-uniform distribution of cells, lack of physiological cell-cell and cell-matrix interactions, and compromised mechanical properties and tissue architecture.
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