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Antineutrophil Cytoplasmic Antibody-Associated Vasculitis in a Pediatric Patient Presenting With Hemoptysis.
Cureus
September 2024
Emergency Medicine, Mayo Clinic Health System, Mankato, USA.
This case report discusses a rare pediatric case of granulomatosis with polyangiitis (GPA) presenting with hemoptysis, migratory polyarthralgia, significant laboratory abnormalities, and imaging findings. GPA is a form of vasculitis that primarily affects the upper and lower respiratory tracts and the kidneys. Pediatric cases, though rare, offer a distinct set of clinical challenges.
View Article and Find Full Text PDFCase report: A suspected case of chronic pulmonary sparganosis characterized by migrating cavities and tunnel sign.
Front Med (Lausanne)
September 2024
Department of Radiology, Shaoxing People's Hospital, Zhejiang, China.
Article Synopsis
- * His blood tests showed normal eosinophil levels despite slight increases in neutrophils and basophils; initial treatment with moxifloxacin helped, but symptoms relapsed after treatment with praziquantel.
- * Doubling the praziquantel dosage after four months ultimately cured the disease, with the CT's migratory lesions and tunnel signs helping to confirm the parasitic infection diagnosis.
Overexpression of NR1D1 portends disease recurrence in thyroid cancer.
J Clin Endocrinol Metab
October 2024
Department of Surgery, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- Scientists found that a gene called NR1D1, which is part of our body's internal clock, seems to be linked to thyroid cancer and how severe it gets.
- They noticed that patients with higher levels of NR1D1 had worse outcomes, like more advanced cancer and shorter times without the disease coming back.
- This research could lead to new treatments that focus on lowering NR1D1 levels to help fight thyroid cancer.
Epidemiological, Pathological, and Molecular Studies on Sheeppox Disease Outbreaks in Karnataka, India.
Microorganisms
July 2024
ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, Karnataka, India.
An epidemiological study spanning twelve years has revealed that sheeppox disease is both widespread and endemic, predominantly surging during the winter and summer seasons. This investigation focused on sheeppox across 11 field outbreaks, involving 889 animals from non-migratory flocks across six districts in Karnataka, in the southern peninsula of India. Among these, 105 animals exhibited clinical signs suggestive of sheeppox, such as lesions on the body, and 95 cases were confirmed through PCR testing.
View Article and Find Full Text PDFClustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
April 2024
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. Electronic address:
Article Synopsis
- Glutamine synthetase (GS), encoded by the GLUL gene, converts glutamate to glutamine and plays a crucial role in neurotransmitter production and ammonia detoxification in the brain.
- *Variations in the GLUL gene can lead to severe developmental delays and neurological disorders in infants due to improper regulation of GS levels.
- *Research indicates that certain genetic mutations can result in a stable but non-regulated form of GS, highlighting the need for careful control of glutamine metabolism during brain development.
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