Results 41 to 50 of about 1,031,173 (193)

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, Volume 110, Issue 2, Page 203-209, August 2026.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Central Diabetes Insipidus and Brain Herniation Secondary to Cryptococcal Meningitis in a Dog

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Patient CSF cytology consistent with Cryptococcus fungal infection with eosinophilic inflammation. ABSTRACT Central diabetes insipidus (CDI) should be considered in neurologic patients with persistent polyuria and rising sodium concentrations despite appropriate fluid therapy. Earlier recognition, serial urine concentration monitoring, and desmopressin
Owen Hurst, Alicia Mastrocco, Jennifer Prittie   +2 more
wiley   +1 more source

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

, 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, Crocker, M, Tisdall, M, Smith, M   +3 more
core  

ARC syndrome with complex renal problems: Nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus

Saudi Journal of Kidney Diseases and Transplantation, 2012
We present a female neonate with arthrogryposis, renal tubular abnormalities and cholestasis syndrome and complex renal structural and functional abnormalities that include medul-lary nephrocalcinosis, hydronephrosis, nephrogenic diabetes insipidus ...
Majid Malaki, Rafeei Mandana, Shamsi Ghaffari   +2 more
doaj   +1 more source

Psychogenic polydipsia in dogs – a review of pathogenesis, diagnosis and treatment

Journal of Small Animal Practice, Volume 67, Issue 7, Page 580-589, July 2026.
Polyuria and polydipsia represent a common clinical presentation in dogs and may result from numerous disorders affecting different body systems. Compulsive water consumption is characteristic of psychogenic polydipsia, a primary polydipsia disorder rooted in neurologic, behavioural or environmental factors.
G. Pavlovsky
wiley   +1 more source

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

, 2008
Item does not contain fulltextWater reabsorption in the renal collecting duct is regulated by the antidiuretic hormone vasopressin (AVP). When the vasopressin V2 receptor, present on the basolateral site of the renal principal cell, becomes activated by ...
Deen, P.M.T., Knoers, N.V.A.M., Os, C.H. van, Loonen, A.J.M.   +3 more
core   +1 more source

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

, 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, Tarnow, Patrick, Pitra, Christian, Gudermann, T., Stäubert, C. ; https://orcid.org/, Tarnow, P., Brumm, H., Römpler, Holger, Grüters, A., Biebermann, H., Brumm, Harald, Pitra, C., Gudermann, Thomas, Biebermann, Heike, Schöneberg, T., Schöneberg, Torsten, Römpler, H., Grüters, Annette   +17 more
core   +1 more source

Autoimmune central diabetes insipidus in a patient with ureaplasma urealyticum infection and review on new triggers of immune response

Archives of Endocrinology and Metabolism, 2015
Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted due to vasopressin (AVP) deficiency [central diabetes insipidus (CDI)] or to AVP resistance (nephrogenic diabetes insipidus).
Giuseppe Murdaca, Rodolfo Russo, Francesca Spanò, Diego Ferone, Manuela Albertelli, Angelo Schenone, Miriam Contatore, Andrea Guastalla, Annamaria De Bellis, Giacomo Garibotto, Francesco Puppo   +10 more
doaj   +1 more source

Impact of recurrent dehydration with mild periodic water restriction on blood pressure and renal function in male spontaneously hypertensive rats

Experimental Physiology, Volume 111, Issue 7, Page 3398-3411, 1 July 2026.
Abstract The kidneys regulate fluid balance but are susceptible to adverse effects of inadequate hydration. Epidemiological studies have linked low water intake to renal dysfunction and chronic kidney disease. Previously we showed that restricting water intake to a single 2‐h period daily for 4 weeks promotes hypertension as well as renal inflammation,
Katrina M. Mirabito Colafella, Peter N. H. Nguyen, Zoe McArdle, Debra Fong, Edmund Kwok, Kate M. Denton, Antony Vinh, Lucinda M. Hilliard Krause   +7 more
wiley   +1 more source