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Haemoglobin (Hb) AE Bart's Disease in a Young Patient: A Case Report.
Cureus
December 2024
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Haemoglobin (Hb) AE Bart's disease is a rare form of thalassemia that results from the co-inheritance of Hb E and alpha thalassemia, typically with Hb H disease. The clinical severity can vary depending on the underlying genetic mutations, particularly in the presence of Hb Constant Spring (Hb CS), which is a highly unstable form of alpha thalassemia. Understanding the genetic basis and haematological profiles of Hb AE Bart's disease is crucial for proper diagnosis and management.
View Article and Find Full Text PDFChallenges in "probing spectroscopic probes" for noninvasive simultaneous disease diagnosis.
Front Chem
January 2025
Department of Chemical and Biological Sciences, S. N. Bose National Centre for Basic Sciences, Kolkata, India.
Noninvasive diagnosis of human diseases relies on the detection of molecular markers (probes) in a painless manner. Although extrinsic and intrinsic molecular markers are often used, intrinsic disease probes (molecular markers) are preferable because they are naturally present in our body, and deviation in their concentration from normal levels clearly indicates anomalies in human bodies, that is, diseases. In this study, we report noninvasive spectroscopic measurements of total haemoglobin (Hb), bilirubin, and the ratio of oxy- and deoxyhaemoglobin as disease markers for anaemia, jaundice, and oxygen deficiency, respectively, using a meticulously designed optical fibre probe.
View Article and Find Full Text PDFPost-Transplant Lymphoproliferative Disorder at the Porta Hepatis Causing Hepatic Artery Stenosis and Cholestasis.
Am J Case Rep
January 2025
Division of Transplant Surgery, Department of Surgery, University of Virginia School of Medicine, UVA Health, Charlottesville, VA, USA.
BACKGROUND Post-transplant lymphoproliferative disorder (PTLD) encompasses a group of disorders ranging from hyperplastic to malignant lymphoid proliferations in the post-transplant period owing to immunosuppression, often in the setting of EBV transformation. PTLD is a rare complication of immunosuppression that, like lymphomas, can have a variable presentation based on disease localization. We report a case of PTLD mass effect at the porta hepatis for the first time in the literature, resulting in hepatic artery stenosis (HAS) and common hepatic duct obstruction.
View Article and Find Full Text PDFNeonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
An Unusual Case of Acute Abdomen With Jaundice.
Cureus
December 2024
Cardiology, University Clinics of Kinshasa, Kinshasa, COD.
Adrenocortical carcinomas are rare but aggressive tumors that are frequently discovered as incidentalomas. Secretory tumors often lead to endocrine abnormalities, namely cushingoid features, virilization, or feminization. Non-functioning tumors, on the other hand, can be completely dormant with an insidious course or cause malaise, weight loss, abdominal pain, etc.
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