Results 31 to 40 of about 889,273 (265)

The genetic basis of classical galactosaemia in Polish patients

Orphanet Journal of Rare Diseases, 2021
Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska   +5 more
doaj   +1 more source

Heterogeneity in the Global Practice of Central Nervous System Staging in Pediatric Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) involvement in childhood acute lymphoblastic leukemia (ALL) is assessed by cell counting and cytomorphology from cerebrospinal fluid (CSF) and is used for treatment stratification worldwide. The ratio of “CNS2” patients in clinical trials ranges from 3% to 40%, with unclear prognostic significance ...
Laura Almási, Bernadett Borbála Huszti, Gábor Barna, Marko Kavcic, Janez Jazbec, Lennart Lenk, Vera Münch, Sophia Polychronopoulou, Ágnes Márk, Maria Thastrup, Lüder H. Meyer, Kjeld Schmiegelow, Cornelia Eckert, Christina Halsey, Dániel J. Erdélyi   +14 more
wiley   +1 more source

Serving as a medical expert witness: Avoiding common errors and potential pitfalls

Annals, Academy of Medicine, Singapore
The medical expert witness plays a crucial role in providing objective, informed opinions that can influence the outcome of court trials and disciplinary proceedings.
Sin Yew Wong
doaj   +1 more source

Therapeutic Apheresis for Intravenous Methylprednisolone‐Refractory Neuromyelitis Optica Spectrum Disorder: Clinical and Radiological Outcomes in a Single‐Center Case Series

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune disease of the central nervous system. High‐dose intravenous methylprednisolone (IVMP) is the standard first‐line therapy for acute attacks, although some patients remain refractory.
Wataru Horiguchi, Daisuke Katagiri, Takeyuki Watadani, Shunichi Matsuda, Hiroshi Kaneko, Noritoshi Arai   +5 more
wiley   +1 more source

Dietary Protein Intake and Peritoneal Protein Losses in Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) patients lose protein in their waste dialysate, potentially increasing their risk for malnutrition. We wished to determine whether there was any association between losses and dietary protein intake (DPI). Methods DPI was assessed from 24‐h dietary recall using Nutrics software.
Haalah Shaaker, Andrew Davenport
wiley   +1 more source

Repeatability and Agreement of Anterion with Pentacam HR and Orbscan II in Corneal Parameters after Photorefractive Keratectomy

Dubai Medical Journal
Introduction: This study aimed to evaluate the repeatability and agreement of Anterion with Pentacam HR and Orbscan II in corneal parameters after photorefractive keratectomy (PRK).
Hadi Ostadi-Moghaddam, Javad Heravian Shandiz, Mohammad Hosein Validad, Monireh Mahjoob, Abbas Ali Yekta, Sadegh Basharaf, Tahereh Rakhshandadi   +6 more
doaj   +1 more source

Knowledge and Attitude of the Faculty Members and Residents of Guilan University Towards Medical Errors, Barriers, and Predisposing Factors

International Journal of Medical Toxicology and Forensic Medicine, 2021
Background: Patient safety is among the main goals in a health system. Medical errors are considered a significant threat to patient safety. An effective strategy to reduce this risk is reporting these errors even when the patient is not affected.
Farnoush Farzi, Soheil Soltanipour, Abbas Sedighinejad, Ali Mirmansouri, Bahram Naderi Nabi, Kourosh Delpasand, Gelareh Biazar, Sara Karimzad Hagh, Ladan Mirmansouri   +8 more
doaj   +1 more source

Prognosis of Long‐Term Continuous Renal Replacement Therapy and the Impact of Combined Continuous Intravenous Sodium Infusion Therapy

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Patients requiring long‐term continuous renal replacement therapy (CRRT) generally have poor prognoses. This study evaluated whether adding continuous intravenous sodium infusion (cIVNa) is associated with improved hemodynamics and outcomes in patients undergoing long‐term CRRT for ≥ 7 days.
Akinori Yamaguchi, Atsuyoshi Mita, Kosuke Sonoda, Makoto Harada, Koji Hashimoto, Hiroshi Imamura, Yuji Kamijo   +6 more
wiley   +1 more source

Evaluation of visual functions in Iranian hypothyroid adults

Endocrinology, Diabetes & Metabolism, 2023
Introduction The aim of this study was to investigate the effects of hypothyroidism on visual functions such as visual acuity, refractive errors, colour vision, and contrast sensitivity, among hypothyroid adults.
Somayyeh Boomi Quchan Atigh, Habibe Sadat Shakeri, Habibollah Esmaily, Azam Darvishi, Aghdas Hamidi, Javad Heravian Shandiz   +5 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source