Hypophyseal Involvement in Immunoglobulin G4-Related Disease: A Retrospective Study from a Single Tertiary Center.
Conclusions. IgG4-RD is a broad disease, and all physicians involved have to be aware of the possibility of pituitary dysfunction. Younger patients should be expected. The histopathological feature of pituitary gland biopsy could be atypical. For patients with a longer history, the combination of GC and immunosuppressive agents is favorable. Early and adequate courses of treatment are crucial for the management of IgG4-RH. With GC and/or immunosuppressant treatment, however, pituitary function or diabetes insipidus did not improve considerably. PMID: 29755523 [PubMed]
Conclusion: We identified a synonymous variant affecting the second nucleotide of exon 3 in theAVP gene (c.324G#x3e;A) in a family in which adFNDI segregates. Notably, we showed that this variant causes partial missplicing of pre-mRNA, resulting in accumulation of the variant prohormone in ER. Our study suggests that even a small amount of aberrant mRNA might be sufficient to disturb cellular function, resulting in adFNDI.
AbstractCentral or neurogenic diabetes insipidus (CDI) is due to deficient synthesis or secretion of antidiuretic hormone (ADH), also known as arginine vasopressin peptide (AVP). It is clinically characterised by polydipsia and polyuria (urine output> 30 mL/kg/day) of dilute urine (
A copeptin blood test reliably differentiated diabetes insipidus from polyuria-polydipsia, which is very important because the wrong diagnosis and treatment can be life-threatening in both instances.Medscape Medical News
MONDAY, Aug. 6, 2018 -- In patients with hypotonic polyuria, the direct measurement of hypertonic saline-stimulated plasma copeptin has better diagnostic accuracy than the water-deprivation test, according to a study published in the Aug. 2 issue of...
CONCLUSIONS The endoscopic endonasal transcavernous approach to the interpeduncular cistern with pituitary transposition and bilateral sacrifice of the IHAs does not cause pituitary dysfunction in a majority of patients. When endocrine deficit occurs, it appears to be more likely to have been caused by surgical manipulation than loss of blood supply. This finding confirms clinically the crucial concept of interarterial anastomosis of pituitary vasculature proposed by anatomists. PMID: 30074461 [PubMed - as supplied by publisher]
We describe a 52-year-old man who prese nted hundreds of yellow-brown skin papules and plaques on eyelids, neck, axillary and cubital folds, trunk and groin. Laryngoscopic studies, ophthalmologic examination, chest x-ray and abdominal ultrasound showed no relevant findings.
Clostridium ramosum is a generally non-pathogenic enteric anaerobe, and Fournier ’s gangrene is a rare necrotizing soft tissue infection with male predisposition affecting the perineum and the genital area. We rep...
(MedPage Today) -- But adverse effects were more common with plasma-based diagnostic
Abstract A series of compounds formerly identified by high throughput screening was studied for their ability to serve as pharmacoperones for the Vasopressin Type 2 Receptor (V2R) mutant L83Q that is known to cause nephrogenic diabetes insipidus (NDI). Three compounds were particularly effective in re-routing the mutant receptor in a concentration-dependent manner, were neither agonists nor antagonists, and displayed low cellular toxicity. Compound 1 was most effective and can be used as a molecular probe for future studies of how small molecules may impact NDI caused by mutant V2R. These compounds however f...
New England Journal of Medicine,Volume 379, Issue 5, Page 428-439, August 2018.