Results 101 to 110 of about 31,531 (242)
Two unrelated Chinese male OTCD‐suspected patients harbored an OTC synonymous variant (c.663G>A, p.Lys221Lys) and a novel de novo in‐frame variant (c.756_761dupAGCAGC, p.Ala253_Ala254dup); minigene analysis confirmed the synonymous variant induces exon 6 skipping with 41 amino acid deletion (c.541_663del, p.Glu181_Lys221del).
Qingming Wang +5 more
wiley +1 more source
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 +5 more
wiley +1 more source
BackgroundThe traditional explanation of metabolic acidosis in extrahepatic tissues is the increased cellular production of lactic acid. We tested whether the LDH reaction produces lactate and pyruvate anions, or acids, and measured the pH changes that ...
Robert Robergs +10 more
doaj +1 more source
Primary ureteral undifferentiated sarcoma with rapid intra‐abdominal recurrence in a dog
Abstract A 3‐year‐old female spayed puli was presented for trembling, lethargy, panting and anorexia. An abdominal computed tomography (CT) scan revealed a mass arising from the right ureter. Peritoneal effusion was detected and confirmed to be uroabdomen. A right ureteronephrectomy was performed.
Emily A. Pope +4 more
wiley +1 more source
Opening closed inward rectifier potassium channel doors
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger +3 more
wiley +1 more source
Editorial: Nutritional Buffering Strategies to Improve Exercise Capacity and Performance
Bryan Saunders +3 more
doaj +1 more source
A 37-year-old Woman with Altered Mental Status and Urinary Frequency
We present a case report of a patient who initially presented with altered mental status andsignificant urinary frequency. Over the course of her emergency department stay, she thendeveloped tachycardia out of proportion to a new fever along with a ...
Deepa Ravikumar, Michelle Lin
doaj
Rising serum sodium levels are associated with a concurrent development of metabolic alkalosis in critically ill patients [PDF]
Purpose: Changes in electrolyte homeostasis are important causes of acid-base disorders. While the effects of chloride are well studied, only little is known of the potential contributions of sodium to metabolic acid-base state. Thus, we investigated the
Fazekas, Andreas +5 more
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