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The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Ethical dilemmas surrounding patients´ "unwise" treatment preferences and suboptimal decision quality: case series of three renal cell carcinoma patients who developed local recurrences after non-guideline-concordant care choices.
Pan Afr Med J
October 2024
College of Medicine, Qatar University, Doha, Qatar.
Patient engagement and shared decision-making (SDM) between patients and clinicians is the foundation of patient-centered care. It aims to reach a treatment option that fits the patient's preference and is guideline-concordant. We sought to evaluate the possible causes and outcomes of patient's non-guideline-concordant care choices.
View Article and Find Full Text PDFMultidisciplinary Approaches and Molecular Diagnostics in New-Onset Refractory Status Epilepticus and Nontuberculous Mycobacterial CNS Infections in the ICU: A Case Report.
Cureus
December 2024
Medical Emergency Unit, Unidade Local de Saúde de São José, Lisbon, PRT.
The diagnosis and management of complex neurological conditions such as New-Onset Refractory Status Epilepticus (NORSE) and central nervous system (CNS) infections caused by non-tuberculous mycobacteria (NTM) pose substantial difficulties in intensive care units (ICUs). This article combines a case report and a literature review that explores the diagnostic dilemmas and therapeutic strategies for these critical conditions. We report the case of an 83-year-old female with chronic granulomatous meningitis secondary to NTM, presenting a challenging diagnostic and complex management complexity typical of such a rare disease through a period time of five years.
View Article and Find Full Text PDFHyperthyroidism in a Twin Pregnancy With a Hydatidiform Mole and a Coexisting Live Fetus: Management Dilemmas.
JCEM Case Rep
February 2025
Division of Endocrinology, McGill University Health Centre, Montréal, QC, Canada H4A 3J1.
Hyperthyroidism in twin pregnancies involving a hydatidiform mole and a coexisting live fetus is a rare condition requiring careful management. We present a 34-year-old pregnant woman at 12 weeks' gestation with severe nausea, vomiting, and mild vaginal bleeding. A transvaginal ultrasound revealed a dichorionic diamniotic twin pregnancy with 1 normal fetus and 1 hydatidiform mole, leading to hyperthyroidism from elevated β human chorionic gonadotropin levels.
View Article and Find Full Text PDFRecent development of micro-nano carriers for oral antineoplastic drug delivery.
Mater Today Bio
February 2025
Department of Neurological Rehabilitation, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325000, China.
Chemotherapy is widely recognized as a highly efficacious modality for cancer treatment, involving the administration of chemotherapeutic agents to target and eradicate tumor cells. Currently, oral administration stands as the prevailing and widely utilized method of delivering chemotherapy drugs. However, the majority of anti-tumor medications exhibit limited solubility and permeability, and poor stability in harsh gastrointestinal environments, thereby impeding their therapeutic efficacy for chemotherapy.
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