Search results for "DIAGNOSI"
showing 10 items of 2319 documents
Lower insulin sensitivity differentiates hirsute from non-hirsute Sicilian women with polycystic ovary syndrome
2006
Objective: It is well known that hyperandrogenism and insulin-resistance with or without compensatory hyperinsulinism are closely associated, but the Rotterdam Consensus has concluded that principally obese women with polycystic ovary syndrome (PCOS) should be evaluated for the metabolic syndrome. Our aim was to study insulin sensitivity in PCOS women with hirsutism regardless of obesity. Methods: Clinical characteristics, sex hormones and fasting- and after OGTT-glycemia and insulinemia, homeostatic model of insulin resistance (HOMA IR), and Matsuda index of insulin sensitivity were analyzed in 130 women with PCOS. Hirsutism has been evaluated through the Ferriman–Gallwey (FG) map scoring …
Expression of aquaporins early in human pregnancy
2011
Abstract Background Aquaporins (AQPs) constitute a family of channel proteins implicated in transmembrane water transport. Thirteen different AQPs (AQP0–12) have been described but their precise biologic function still remains unclear. AQPs 1, 3, 4, 8, and 9 expression has been described in human chorion, amnion and placenta; however, AQP4 is the only that has been identified in the first trimester of human pregnancy. Objective To assess multiplicity of AQPs expression from 10th to 14th week gestation. Population and methods Chorionic villi samples (CVS) collected in pregnant women for prenatal diagnosis were analysed by real time-PCR to assess cDNA expression of AQPs 1, 2, 3, 4, 5, 6, 7, 8…
Impact of chromosomal abnormalities on preimplantation embryo development.
2007
Objectives To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development. Methods This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed. Results In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) em…
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
2004
Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n = 36) and milder (n = 9). Urine specimens were also analyzed from patients categorized as severe (n = 56) and milder (n = 12), respectively. Blood KS levels (101–1525 ng/mL)…
A novel L1CAM mutation in a fetus detected by prenatal diagnosis
2010
X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …
The treatment of hyperinsulinemic hypoglycaemia in adults: an update
2016
Treatment of hyperinsulinemic hypoglycaemia (HH) is challenging due to the rarity of this condition and the difficulty of differential diagnosis. The aim of this article is to give an overview of the recent literature on the management of adult HH. A search for reviews, original articles, original case reports between 1995 and 2016 in PubMed using the following keywords: hyperinsulinemic hypoglycaemia, insulinoma, nesidioblastosis, gastric bypass, autoimmune hypoglycaemia, hyperinsulinism, treatment was performed. One hundred and forty articles were selected and analysed focusing on the most recent treatments of HH. New approaches to treatment of HH are available including mini-invasive sur…
Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by u…
2008
Objective To evaluate the survival rate and clinical results of our vitrification procedure on preimplantation genetic diagnosis (PGD) blastocysts and to calculate its actual contribution to the reproductive outcome per cycle. Design Retrospective clinical study. Setting University Institute IVI, Valencia, Spain. Patient(s) Patients who requested cryotransfer of surplus PGD blastocysts after failed fresh elective transfer. Intervention(s) Retrospectively collected data during 2 years of experience with blastocyst vitrification. Main Outcome Measure(s) Primary outcome measures were the following: blastocyst recovery and survival; cryotransfer cancellation; and the implantation, pregnancy (PR…
Is avoidance of surgery possible in patients with perimenopausal ovarian tumors using transvaginal ultrasound and duplex color Doppler sonography?
1993
A total of 108 cases of small perimenopausal ovarian tumors (largest diameter, less than 7 cm) were evaluated by transvaginal sonography and duplex color Doppler sonography; 101 had criteria for benignity and 7 for malignancy. All cysts were punctured and aspirated to avoid unnecessary surgery (benign cases) and establish the cytologic diagnosis as well as to avoid the risk of leakage (malignant cases). Recurrence rate of benign punctured cysts was 25% within 1 year of follow up. No difference in recurrent rate was seen between pre- and postmenopausal patients (19 of 56 cases in the premenopausal group, and five of 28 cases in the postmenopausal group). The larger the cyst, the greater the …
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
2015
Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…
A pigmented papule acting like a playful ghost: dermoscopy of three targetoid hemosiderotic hemangiomas
2018
Targetoid hemosiderotic hemangioma represents an uncommon, distinctive, benign lympho-vascular lesion, with a variable clinical appearance, typically occurs in the lower limbs and trunk. Most patients are in their 20's or 30's. We describe three dermoscopic cases followed by the review of the literature. Dermoscopic images have been collected and have been evaluated for the presence of dermoscopic features. Concerning the review, we researched on pubmed and records were reviewed noting patient age of onset, sex, location, overall size, dermoscopic appearance. The harmonic mean age of patients was 31 years; the female-to-male ratio was 1:1, and the most common locations were lower extremitie…