Results 61 to 70 of about 4,644 (193)

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

open access: yesPregnancy, 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   +5 more
wiley   +1 more source

Disturbances of sodium in critically ill adult neurologic patients: A clinical review [PDF]

open access: yes, 2006
Disorders of sodium and water balance are common in critically ill adult neurologic patients. Normal aspects of sodium and water regulation are reviewed. The etiology of possible causes of sodium disturbance is discussed in both the general inpatient and
Watkiss, J   +3 more
core  

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

open access: yesAndrology, Volume 14, Issue 4, Page 978-991, May 2026.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre   +5 more
wiley   +1 more source

Diabetes insipidus in pregnancy [PDF]

open access: yes, 2009
Diabetes insipidus is an uncommon condition with various aetiologies. Recent research has uncovered new mechanisms underlying the syndrome. Careful attention to management is essential in pregnant women to avoid serious complications.
Hague, W.
core   +1 more source

Hyperactivation of Nrf2 in early tubular development induces nephrogenic diabetes insipidus

open access: yesNature Communications, 2017
Nrf2 regulates oxidative and electrophilic stress responses by modulating the expression of enzymes involved in detoxification pathways. Here Suzukiet al.
Takafumi Suzuki   +9 more
doaj   +1 more source

V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology

open access: yesFrontiers in Endocrinology, 2023
The diluting and concentrating function of the kidney plays a crucial role in regulating the water homeostasis of the body. This function is regulated by the antidiuretic hormone, arginine vasopressin through the type 2 vasopressin receptor (V2R ...
László Sándor Erdélyi   +4 more
doaj   +1 more source

Postoperative polyuria after hepatectomy associated with prolonged sodium‐glucose co‐transporter‐2 inhibitor effect

open access: yesAnaesthesia Reports, Volume 14, Issue 1, January‐June 2026.
Summary Sodium‐glucose co‐transporter‐2 inhibitors are routinely withheld before surgery to reduce the risk of peri‐operative metabolic complications. However, their pharmacodynamic effects may persist beyond the recommended discontinuation period. We report a 67‐year‐old man with type 2 diabetes who developed severe postoperative polyuria (6–7 l.day−1)
D. Tominaga   +5 more
wiley   +1 more source

Physiological basis of arginine vasopressin deficiency (AVP-D, formerly central diabetes insipidus) and AVP-resistance (AVP-R, formerly nephrogenic diabetes insipidus) [PDF]

open access: yesExploration of Medicine
This review explored the physiological mechanisms underlying arginine vasopressin deficiency (AVP-D, formerly central diabetes insipidus) and AVP resistance (AVP-R, formerly nephrogenic diabetes insipidus), with a focus on water balance regulation. Vital
Osah Martins Onwuka
doaj   +1 more source

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]

open access: yes, 2007
More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Stäubert, Claudia   +17 more
core   +1 more source

Nephrotoxicity and Modern Volatile Anesthetics: A Narrative Review

open access: yesToxics
Volatile anesthetics, while increasingly utilized in intensive care medicine, are associated with significant renal adverse effects. A critical safety concern—particularly with sevoflurane—involves its potential impact on renal function ...
Benedicte Hauquiert   +15 more
doaj   +1 more source

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