Lymphangioleiomyomatosis (LAM) is a rare disease characterized by cystic lung lesions, lymphatic abnormalities, and angiomyolipomas. It can take a significant amount of time to diagnose LAM due to the vague symptoms of fatigue, progressive dyspnea, pneumothorax, and pleural effusion. We present a case of a 29-year-old woman with recurrent spontaneous pneumothorax and progressive dyspnea who was initially misdiagnosed with asthma and was later found to have LAM. As with all rare diagnoses, there needs to be a suspicion of the disease in order for a further workup to be initiated. In patients with a compatible High-resolution CT scan of the chest, a high vascular endothelial growth factor-D (VEGF-D) value is diagnostic for LAM, and no other confirmatory test is needed.
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http://dx.doi.org/10.1080/20009666.2020.1771125 | DOI Listing |
Front Cardiovasc Med
December 2024
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia disorder characterized by ventricular arrhythmia triggered by adrenergic stimulation.
Case Presentation: A 9-year-old boy presented with convulsions following physical exertion. Bidirectional ventricular tachycardia (VT) during a treadmill test led to the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT).
Front Med (Lausanne)
December 2024
St Pauls Eye Clinic, Liverpool University Hospitals NHS Foundation Trust, Liverpool, United Kingdom.
We report a rare case of a rapidly growing and large conjunctival histoplasmosis lesion in an immunosuppressed West African woman in her 80s, affecting her only eye. The patient had undergone a renal transplant and was on immunosuppressive medications. Additionally, she had previously been treated for presumed systemic histoplasmosis with itraconazole more than 5 years ago.
View Article and Find Full Text PDFEnviron Geochem Health
December 2024
Da Lat Nuclear Research Institute, 01 Nguyen Tu Luc, Da Lat, Lam Dong, 670000, Vietnam.
This study investigates the quantities of Rare Earth Elements (REEs) and Potentially Toxic Elements (PTEs) in Dong Nai Province's surface soils. Atomic Absorption Spectrometry (AAS) and Instrumental Neutron Activation Analysis (INAA) were used to determine element concentrations. To validate the concentration results, established reference materials (NIST 2711 and IAEA Soil-7) were used.
View Article and Find Full Text PDFBMC Bioinformatics
December 2024
Center of Intelligent Medicine, School of Control Science and Engineering, Shandong University, Jinan, 250061, Shandong, China.
Recent developments in spatially resolved transcriptomics (SRT) enable the characterization of spatial structures for different tissues. Many decomposition methods have been proposed to depict the cellular distribution within tissues. However, existing computational methods struggle to balance spatial continuity in cell distribution with the preservation of cell-specific characteristics.
View Article and Find Full Text PDFJ Exp Med
February 2025
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).
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