Results 201 to 210 of about 104,185 (298)

Taurine intake ameliorates lactic acidosis and hyperferritinemia occurring after mRNA SARS-CoV-2 vaccination in a patient with β-thalassemia trait: a case report and review of literature. [PDF]

J Med Case Rep
Kyriakopoulos AM, McCullough PA, Seneff S.   +2 more
europepmc   +1 more source

Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neutrophil dysfunction and neutropenia are burdensome findings in glycogen storage disease type Ib (GSDIb). Treatment with granulocyte‐colony stimulating factor (G‐CSF) often corrects neutropenia but fails to improve clinical symptoms like inflammatory bowel disease (IBD).
Sema Kalkan Uçar, Neslihan Önenli Mungan, Gülden Fatma Gökçay, Ayşe Çiğdem Aktuğlu Zeybek, Sebile Kılavuz, Seda Güneş, Fatih Kardaş, Pelin Teke Kısa, Kısmet Çıkı, Aynur Küçükçongar Yavaş, Ayça Burcu Kahraman, Merve Yoldaş Çelik, Ebru Canda, Deniz Kor, Meryem Karaca, Tanyel Zübarioğlu, Emine Genç, Havva Yazıcı, Fatma Derya Bulut, Şebnem Kılıç, Hanım Aghakıshılı, Fehime Erdem Karapınar, Ezgi Burgaç, Ertuğrul Kıykım, Alperen Elek, Nihal Kardaş, Ekrem Ünal, Tuba Hilkay Karapınar, Meryem Albayrak, Canan Albayrak, Ayşegül Ünüvar, Saskia B. Wortmann, Deniz Yılmaz Karapınar   +32 more
wiley   +1 more source

Refining an acute respiratory distress syndrome animal model supported by extracorporeal membrane oxygenator: incorporating clinically relevant mechanical ventilation strategy upon development. [PDF]

Intensive Care Med Exp
Liu K, Fior G, Obonyo N, Nonaka H, Milani A, Abbate G, Portatadino S, Palmieri C, Ijuin S, Sato K, Heinsar S, Ro SK, Gandini L, Hoshino K, Sato N, Farah S, Ainola C, Passmore MR, Panduru R, Bouquet M, Wilson ES, Hyslop K, McInerney MR, Zhang C, McGrath C, Paech J, Suen JY, Fraser JF, Bassi GL.   +28 more
europepmc   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported <i>UQCRC2</i>-Associated Phenotype. [PDF]

Cells
Preston G, Shammas I, Pinto E Vairo F, Ligezka A, Aschoff CAM, Poswar F, Schwartz IVD, Kozicz T, Morava E.   +8 more
europepmc   +1 more source

Early Detection of Neuroinflammation and White Matter Damage Following Dorsal Spinal Nerve Root Sectioning in a Nonhuman Primate Model

Magnetic Resonance in Medicine, Volume 95, Issue 5, Page 2786-2796, May 2026.
ABSTRACT Purpose Dorsal rhizotomy, or spinal dorsal nerve root lesioning, is a surgical procedure used to treat intractable nerve pain by selectively severing sensory afferent nerve roots. This study aimed to evaluate whether multiparametric MRI, including diffusion tensor imaging (DTI), quantitative magnetization transfer (qMT), chemical exchange ...
Feng Wang, John C. Gore, Li Min Chen
wiley   +1 more source

Severe organophosphate intoxication without classic cholinergic signs: A case report and updated literature review. [PDF]

Sci Prog
Naghizade U, Sabo V, Renfer N, Schmid S, Müller M, Schilling T.   +5 more
europepmc   +1 more source

Toxic alcohols [PDF]

, 2018
Kraut, Jeffrey A, Mullins, Michael E
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source