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Endocrines, Volume 2, Issue 1

March 2021 - 6 articles

Cover Story: AVP variants in the autosomal dominant familial form of neurohypophyseal diabetes insipidus (adFNDI) are associated with the early-childhood onset and gradual progression of the disease to complete depletion of arginine vasopressin-producing cells. While several exceptions to this general rule have been reported, which underlie the combined effects of genetic disparities and sexual differences in the susceptibility to neurotoxicity, we document a partial clinical phenotype of adFNDI in a young adult woman, caused by a c.55G>A transition in the signal peptide-encoding region of AVP. View this paper.
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Articles (6)

  • Brief Report
  • Open Access
6 Citations
3,611 Views
11 Pages

10 March 2021

Metastatic estrogen receptor α (ERα)-expressing breast cancer (BC) occurs after prolonged patient treatment with endocrine therapy (ET) (e.g., aromatase inhibitors—AI; 4OH-tamoxifen—4OH-Tam). Often these metastatic BCs express a mutated ERα variant (...

  • Article
  • Open Access
2 Citations
5,522 Views
10 Pages

23 February 2021

Typically, salivary cortisol is reported as 5–10% of total cortisol, but the stability of this proportion and the effect of exercise on the 24-h profile is unclear. Therefore, this study investigated the circadian rhythm of the proportion of serum co...

  • Brief Report
  • Open Access
1 Citations
3,153 Views
7 Pages

A Partial Phenotype of adFNDI Related to the Signal Peptide c.55G>A Variant of the AVP Gene

  • Vera Tocci,
  • Maria Mirabelli,
  • Stefania Giuliano,
  • Eusebio Chiefari,
  • Jane Hagelskjær Knudsen,
  • Helene Kvistgaard,
  • Domenico La Torre,
  • Antonio Aversa,
  • Daniela Patrizia Foti and
  • Jane Hvarregaard Christensen
  • + 1 author

15 February 2021

The autosomal dominant familial form of neurohypophyseal diabetes insipidus (adFNDI) is a rare inherited endocrine disorder characterized by hypotonic polyuria, severe thirst and polydipsia, which results from a deficient neurosecretion of the antidi...

  • Review
  • Open Access
3 Citations
3,189 Views
9 Pages

Tumor Heterogenity in Gastro-Entero-Pancreatic Neuroendocrine Neoplasia

  • Ludovica Magi,
  • Maria Rinzivillo and
  • Francesco Panzuto

25 January 2021

Owing to the rarity and the biological and clinical heterogeneity of gastroenteropancreatic neuroendocrine neoplasia (GEP NEN), the management of these patients may be challenging for physicians. This review highlights the specific features of GEP NE...

  • Review
  • Open Access
11 Citations
15,504 Views
13 Pages

Ovarian Rejuvenation Using Autologous Platelet-Rich Plasma

  • Tuyen Kim Cat Vo,
  • Yuka Tanaka and
  • Kazuhiro Kawamura

7 January 2021

Advanced maternal age is associated with the natural oocyte depletion, leading to low oocyte yield, high infertility treatment cancellation rates, and eventual decreases in pregnancy rates. Various innovative interventions have been introduced to imp...

  • Review
  • Open Access
2 Citations
4,244 Views
14 Pages

24 December 2020

Estrogen receptor alpha (ERα) is a modulator of breast cancer maintenance and evolution. Hence, analysis of underlying mechanisms by which ERα operates is of importance for the improvement of the hormonal therapy of the disease. This revi...

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Endocrines - ISSN 2673-396X