Search results for "Diabetes insipidus"
showing 10 items of 15 documents
[Transphenoidal endoscopic approaches for pituitary adenomas: a critical review of our experience].
2010
Abstract Background The surgical approach to the pituitary fossae has evolved from transcranial to sublabial and transseptal microscopic ones, up to the current transsphenoidal endoscopic approach. Objectives To present our experience in the transnasal transsphenoidal approach for pituitary adenomas and the modifications introduced to improve tumoral resection and to lower iatrogenia. Material and methods Over nine years, we operated on 37 patients with pituitary adenomas using the transsphenoidal endoscopic approach. We utilised optical lens of 0° (approach) and 30° (adenoma resection), optic navigator, surgical instruments for nasal endoscopic and pituitary surgery. During the neurosurgic…
A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature
2020
There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-in…
Endoscopic endonasal pituitary surgery: Surgical and outcome analysis of 50 cases
2007
Abstract Objective Microsurgical transsphenoidal surgery for pituitary tumors has been standard therapy for decades and was established by Harvey Cushing in the early twentieth century. Today, endoscopy is increasingly accepted in the therapy of pituitary lesions. In this retrospective study, we analysed the surgical technique and outcome of 50 patients with pituitary lesions treated with an endoscopic endonasal trans-sphenoidal approach. Methods Between January 2004 and July 2005, 50 patients (30 female and 20 male) with pituitary tumors were operated upon using an endoscopic endonasal trans-sphenoidal procedure without nasal speculum or postoperative nasal packing. The follow-up period ra…
Clinical and immunohistochemical evaluation of the vulvar Langerhans cell histiocytosis.
2008
: We present the case of a woman with diabetes insipidus with subsequent genital and multiorgan Langerhans cell histiocytosis (LCH). A monolateral and slightly infiltrated erythematous plaque of the vulva was observed. Hematoxylin and eosin and immunophenotypic studies were performed. The primary antibodies used were monoclonal antibody to S100, CD1a, CD34, HLA-DR, PCNA, CD45Ro, CD40, and langerin. The histology of the infiltrates revealed a granulomatous reaction pattern, with extensive aggregates of histiocyte proliferation. The histiocytes, morphologically characterized by a pale staining of cytoplasm surrounding a grooved reniform nucleus, sometimes contained small distinct nucleoli. L…
Morphometric Examination of the Dilated Rat Ureter
1987
Dilatations of the ureter are known in rats with diabetes insipidus as well as after the administration of diuretics (Wladimiroff 1975). Nevertheless, similarities to congenital deformities, such as the primary megaureter, have not been established to date. It has not yet been determined whether in the fetus increased diuresis can lead to a functional overstrain of the transport capacity of the ureter and thus to mutations in the sense of a congenital megaurter. In addition to the direct influence of increased diuresis, teratogenic effects of the administered diuretics during pregnancy are possible. Furthermore, it should be determined whether the dilatation can be classified as an adaptive…
Folding and stability of the aquaglyceroporin GlpF: Implications for human aqua(glycero)porin diseases
2015
AbstractAquaporins are highly selective polytopic transmembrane channel proteins that facilitate the permeation of water across cellular membranes in a large diversity of organisms. Defects in aquaporin function are associated with common diseases, such as nephrogenic diabetes insipidus, congenital cataract and certain types of cancer. In general, aquaporins have a highly conserved structure; from prokaryotes to humans. The conserved structure, together with structural dynamics and the structural framework for substrate selectivity is discussed. The folding pathway of aquaporins has been a topic of several studies in recent years. These studies revealed that a conserved protein structure ca…
Successful treatment of adult multisystemic Langerhans cell histiocytosis with psoralen-UV-A, prednisolone, mercaptopurine, and vinblastine.
2008
Background Langerhans cell histiocytosis (LCH) is a rare disease with a peak incidence in childhood. There is limited experience with treatment options for adult patients having multisystemic LCH involvement. We report successful treatment of a 70-year-old woman with adult onset of LCH and multisystem disease (diabetes insipidus centralis, bone marrow infiltration, and lung and skin involvement). Observations A 70-year-old woman with erythematous plaques and papules of the submammary and inguinal skin attended our outpatient clinic and was diagnosed as having LCH. Organ involvement was found in the infundibulum of the pituitary gland, associated with diabetes insipidus centralis, bone marro…
Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus.
2000
Vasopressin V2 receptor mutants from three different patients with congenital nephrogenic diabetes insipidus phenotypes were investigated after expression in COS cells. The amino acid exchanges within the human V2 receptor are located in the second extracellular loop (T204N, Y205C and V206D). Confocal microscopy showed that all receptor mutants were strongly expressed but mainly located within the cell. Residual binding capacity for the antidiuretic hormone arginine vasopressin (AVP) could only be detected for the T204N mutant and was 10-fold lower than for the wild-type receptor. Stimulation of transfected cells with 1 microM AVP showed that the T204N mutant was able to activate the adenyl…
Craniopharyngiomas in Children - Experience of Consecutive 152 Operated Cases
2020
Context Craniopharyngiomas (CPH) are benign tumors, rarely encountered in children, representing 5-6% of all intracranial tumors. Objective This study aimed to analyze the surgical management and quality of life in a series of CPH pediatric cases. Design This was a multicenter study performed over a 25-year period (1994 - 2019) in Bucharest. Subjects and methods 152 children (0-17 years old) were treated for CPH. Preoperative manifestations were intracranial hypertension, endocrine dysfunction, visual impairment, ataxia, intellectual performance decrease. Results Considering all surgical approaches used, we advocate for pterional approach to best fit in CPH. We achieved gross-total removal …
Fetal Renal Effects of Intrauterine Diuretic Application in Wistar Rats
1987
The application of placenta-permeable diuretics in the pregnant woman has been the subject of controversial discussion (Friedberg 1980; Souster and Emery 1980). Not only is the fetus endangered by potential placental ischaemia, natrium and potassium loss and possible dehydration in the mother (Friedberg 1980; Gant and Madden 1975), but also induced effects on fetal organ formation should be considered (Frohneberg and Hutschenreiter 1982; Seufert 1986). Depending on the site of action and placental permeability, fetal urine production can be increased (Wladimiroff 1975), thus leading to consequences for the morphological and functional embryogenesis of isolated nephron sections (Frohneberg 1…