Results 131 to 140 of about 41,340 (258)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler   +5 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

Recurrent Miscarriages and Postpartum Heart Failure Can Be Phenotypic Manifestations of the m.3243A>G Variant

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Female carriers of the MT‐TL1 variant m.3243A>G may manifest not only phenotypically with diabetes, renal insufficiency, hearing loss, and cardiomyopathy but also with recurrent miscarriages.
Sounira Mehri, Josef Finsterer
wiley   +1 more source

Neuroprotective Effects of Phenothiazines on Acute Ischemic Stroke

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
For acute ischemic stroke due to large vessel occlusion, adjunctive neuroprotective therapy with mechanical thrombectomy is important; however, current treatment options are relatively limited. Phenothiazines such as chlorpromazine and promethazine (C + P) have shown potential neuroprotective effects in preclinical studies.
Qi Wang   +4 more
wiley   +1 more source

Enteromorpha prolifera Polysaccharide Alleviates Type 2 Diabetes via the Gut Microbiota–Liver Axis to Modulate Cholesterol Metabolism

open access: yesFood Science &Nutrition, Volume 14, Issue 6, June 2026.
Enteromorpha prolifera polysaccharides may help restore lipid metabolism homeostasis by gently remodeling the gut microbiota to enrich beneficial bacteria and SCFAs, which in turn appears to modulate hepatic functions through the portal vein by downregulating cholesterol synthesis and promoting its metabolism. This coordinated process potentially leads
Liuying Zhu   +5 more
wiley   +1 more source

D-lactic acidosis in neonatal ruminants

open access: yes, 2018
Neonatal ruminantlarda D-laktik asidoz, metabolik asidoza sebep olan ve sıklıkla gözden kaçabilen bir durumdur. D-laktik asidoz ile seyreden hastalıklar hayvan türlerine göre farklı isimlerle adlandırılmıştır.

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Innovative Drug Delivery Systems for the Treatment of Glaucoma

open access: yesMedComm – Biomaterials and Applications, Volume 5, Issue 2, June 2026.
This review aims to provide a comprehensive overview of current topical drug delivery strategies for ocular hypotensive agents in glaucoma therapy. Additionally, it discusses the potential impact of emerging nanotechnological and biomaterial‐based systems in shaping the future of ophthalmic drug delivery, with an emphasis on enhancing efficacy, safety,
Jing Chu   +9 more
wiley   +1 more source

Type B lactic acidosis in solid malignancies

open access: yes, 2011
Item does not contain fulltextBACKGROUND: Type B lactic acidosis is thought to be a rare complication of malignancy. It was first described in patients with acute leukaemia by Field et al. in 1963.
Sprenger, R.A.   +3 more
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Association between serum bicarbonate and low mid‐upper arm circumference in patients with non‐dialysis‐dependent chronic kidney disease: A cross‐sectional study

open access: yesNutrition in Clinical Practice, Volume 41, Issue 3, Page 779-792, June 2026.
Abstract Background Although previous experimental studies showed that metabolic acidosis promoted muscle catabolism and impaired protein synthesis, few epidemiological studies reported an independent association between serum bicarbonate levels and muscle atrophy in patients with chronic kidney disease (CKD).
Nobuhisa Morimoto   +13 more
wiley   +1 more source

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