13 Sonuçlar
The acid phos phatase activity of the rat neurohypophysis was measured during increased gonadotrophic hormone levels, in diabetes insipidus (DI) (Brattleboro strain) and after water loading, i.e. conditions that interfere with the function of the hypothalamo-neurohypophyseal system (HNS). In
We investigated the biochemical and functional properties of five vasopressin V2 receptor mutants (L44F, L44P, W164S, S167L, and S167T) that were recently described in families with a history of X-linked nephrogenic diabetes insipidus. COS.M6 cells transfected with cDNA encoding these mutants
Gestational diabetes insipidus (DI) is a rare complication of pregnancy, usually developing in the third trimester and remitting spontaneously 4-6 weeks post-partum. It is mainly caused by excessive vasopressinase activity, an enzyme expressed by placental trophoblasts which metabolises arginine
OBJECTIVE
Autoimmune targeting of hypothalamic-neurohypophyseal structures in children and young adults with posterior pituitary and anterior pituitary dysfunction, as well as pituitary stalk involvement, are not yet completely understood.
METHODS
We aimed to (1) evaluate the presence of circulating
BACKGROUND
Mutations in the aquaporin-2 (AQP2) gene cause nephrogenic diabetes insipidus (NDI), a renal disorder characterized by polyuria due to a lacking antidiuretic response to vasopressin. While most AQP2 mutants in recessive NDI are misfolded and retained in the endoplasmic reticulum,
The serine/threonine phosphatase calcineurin is an important signaling molecule involved in kidney development and function. One potential target of calcineurin action is the water channel aquaporin 2 (AQP2). In this study, we examined the effect of loss of calcineurin Aalpha (CnAalpha) on AQP2
Clinical profile, disease-distribution and outcome of Langerhans cell histiocytosis (LCH) is presented in this retrospective analysis. There were 69 children with LCH from January 1986 to December 2004. Diagnosis was presumptive in the majority. The age ranged from 2 months to 12 years. Multisystem
Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share similar clinical features and mechanisms. In very rare circumstances, the two diseases coexist in the same patient. Here we report such a patient, who was first diagnosed with Hand-Schüller-Christian disease (HSC), a type of
METHODS
The authors describe a unique case of an 8-year-old girl with a germinoma located in the left basal ganglia. Medical history begins 5 months before with a central diabetes insipidus, loss of weight (5 kg at admission), vomiting and asthenia. Computed tomography (CT) and cranial magnetic
Clinical and experimental studies have shown that lithium carbonate causes a number of clinical manifestations such as hyperparathyroidism, hypothyroidism, renal toxicity, and diabetes insipidus. The effect of this drug on the bone biology of experimental animals has not been studied to date.
Recent progress in the molecular biological approach to analysis of inherited tubular transport abnormalities is reviewed. 1) cDNAs of several mammalian proteins, related to amino acid transport in renal tubular cell, have been cloned using an expression cloning in Xenopus oocytes. One of them
This report concerns the unusual case of a germinoma primarily arising from the right optic nerve. The patient is a 31-year-old male who presented with progressive loss of vision, but with no clinical evidence suggestive of hypothalamic-pituitary dysfunction, including diabetes insipidus. The
Germinomas arising in the sella turcica are difficult to differentiate from autoimmune hypophysitis because of similar clinical and pathological features. This differentiation, nevertheless, is critical for patient care due to different treatments of the two diseases. We report the case of an