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Reproductive cancer cryopreservation services: Patient information, clinical advice, and support.
Int J Gynaecol Obstet
January 2025
Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Fertility preservation services must offer information to patients, prior to their visit, so that they have time to read and digest the information, and also have the opportunity to write down any questions they wish to ask at the oncofertility consultation appointment. Appointments must be offered immediately, based on a specifically designed referral form. Each fertility service providing oncology cryopreservation should have a robust map of the patient's journey to include referral, counseling session, medical consultation, informed consent, treatment plan, and follow-up.
View Article and Find Full Text PDFTrichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFThe power of emotion regulation: how managing sadness influences depression and anxiety?
BMC Psychol
January 2025
Department of kindergarten, Faculty of Education, Taiz University, Taiz, Yemen.
Background: Emotions are a fundamental part of life and play a critical role in shaping individuals' experiences Effectively regulating emotions in socially appropriate ways is essential for navigating life successfully. This study investigated the impact of seven sadness regulation strategies on depression and anxiety and examined the mediating role of ER in the relationship between sadness regulation and depression and anxiety.
Method: A cross-sectional design was employed with 350 participants (144 men, 206 women) aged 18 to 35.
The role of pharmacists in mitigating medication errors in the perioperative setting: a systematic review.
Syst Rev
January 2025
Pharmacy Department, Hamad Medical Corporation, Doha, Qatar.
Introduction: Medication errors occur at any point of the medication management process and are a major cause of death and harm globally. The perioperative environment introduces challenges in identifying medication errors due to the frequent use of time-sensitive, high-alert medications in a dynamic and intricate setting. Pharmacists could potentially reduce the occurrence of these errors because of their training and expertise.
View Article and Find Full Text PDFA study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
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