Search results for "FEM"

Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis

2011

Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).We studied a girl with TD who had mutations in two transcription factors involved in thyroid development.Sequencing analysis of candidate genes involved in thyroid gland development revealed a new paternally inherited heterozygous mutation in the NKX2.5 gene (S265R) and a new maternally inherited heterozygous mutation in the PAX8 promoter region (-456CT). Both parents and a brother, who was also heterozygous for both mutations, were phenotypically normal. Immunofluorescence microscopy showed a correct nucl…

Characteristics and patterns of care of endometrial cancer before and during COVID-19 pandemic

2021

Objective Coronavirus disease 2019 (COVID-19) outbreak has correlated with the disruption of screening activities and diagnostic assessments. Endometrial cancer (EC) is one of the most common gynecological malignancies and it is often detected at an early stage, because it frequently produces symptoms. Here, we aim to investigate the impact of COVID-19 outbreak on patterns of presentation and treatment of EC patients. Methods This is a retrospective study involving 54 centers in Italy. We evaluated patterns of presentation and treatment of EC patients before (period 1: March 1, 2019 to February 29, 2020) and during (period 2: April 1, 2020 to March 31, 2021) the COVID-19 outbreak. Results M…

Is prolonged febrile syndrome associated with reactive thrombocytosis a possible association in the diagnosis of Takayasu’s arteritis? A case report

2021

Takayasu’s arteritis is a rare, systemic, inflammatory vasculitis of large blood vessels with an unknown aetiology that more frequently affects women of childbearing age with progression to stenosis, fibrosis or thrombogenesis. Clinical manifestations are associated either with inflammation of the vascular wall (including fever, myalgia, arthralgia, weight loss) or the development of aneurysms and extensive vascular lesions, which creates challenges for a differential diagnosis. This current report presents the case of a female Caucasian patient, aged 23 years, that presented herself repetitively at the hospital reporting symptoms including fever, productive cough, myalgia associated with …

Viridans streptococcal infective endocarditis associated with fixed orthodontic appliance managed surgically by mitral valve plasty

2018

Abstract Rationale: Streptococcus viridans, a heterogeneous group of alpha-hemolytic streptococci, is part of the normal flora of the mouth, usually responsible for dental caries (Streptococcus mutans, Streptococcus sanguinis), and pericoronitis, as well as for subacute infective endocarditis. They are responsible for 40-60% of the endocarditis cases occurring on the normal valves, especially in male patients and over 45 years of age. A change in the bacterial flora of the oral cavity is taking part after orthodontic fixed appliances are introduced into the oral cavity, change that is associated with an increased concentration of the acidogenic bacteria. Bacteraemia is the consequence of or…

Eye disease and mortality, cognition, disease, and modifiable risk factors: an umbrella review of meta-analyses of observational studies

2022

Globally, 2.2 billion people live with some form of vision impairment and/or eye disease. To date, most systematic reviews examining associations have focused on a single eye disease and there is no systematic evaluation of the relationships between eye diseases and diverse physical and mental health outcomes. Moreover, the strength and reliability of the literature is unclear. We performed an umbrella review of observational studies with meta analyses for any physical and/or mental comorbidities associated with eye disease. For each association, random-effects summary effect size, heterogeneity, small-study effect, excess significance bias and 95% prediction intervals were calculated, and …

Use of digital displays and ocular surface alterations: A review.

2020

Digital display use has been accepted to be implicated as a contributing factor for dry eye disease (DED). Abnormal blinking during computer operation, including a reduced blink rate and an incomplete eyelid closure, increased palpebral fissure as consequence of high visualization angles, and meibomian gland dysfunction associated to long-term display use, are behind the increased prevalence of dry eye signs and symptoms found in digital display users. Previous research reveals significant reductions in tear volume and stability, alterations in tear film composition, including increased osmolarity, inflammatory cytokines, oxidative stress markers and reduced mucin secretion, eyelid abnormal…

Changes in Pupil Area during Low-energy Femtosecond Laser-assisted Cataract Surgery

2018

Purpose: To study the potential changes in pupil area within low-energy femtosecond-laser assisted cataract surgery (FLACS). Methods: A retrospective assessment of the pupil size was performed in the eyes undergoing FLACS using the Ziemer LDV Z8. We measured the pupil diameters as part of the images taken preoperatively and at the completion of laser pretreatment (after releasing the suction). We calculated the pupil area in 40 eyes of 40 patients (14 right and 26 left eyes). The mean ± standard deviation (SD) of age of the patients was 74 ± 7.4 years (range: 51-87). Paired t-test was used for statistical analyses. Subgroups were built with reference to age and preoperative pupil area (smal…

Obstructive Sleep Apnea and the Brain

2018

Exploring Potential Benefits of Accumulated Multicomponent-Training in Non-Active Older Adults: From Physical Fitness to Mental Health

2021

The present study aimed to analyze the impact of a multicomponent training (MCT) program in a group of non-active older adults, comparing two different dose distributions. Twenty-four individuals, assigned to two groups, completed 15 weeks of MCT (2 days/week). The continuous group (CMCT

Pharmacotherapy for gestational diabetes

2018

Introduction: Gestational diabetes mellitus (GDM) represents impaired carbohydrate metabolism during pregnancy and is characterized by progressive insulin resistance and compensatory hyperinsulinaemia. If inadequately treated, it may lead to fetal macrosomia and other adverse outcomes. Areas covered: In this review, the authors summarize the current evidence from studies on the use of insulin and other agents for the treatment of women with GDM. Expert opinion: Lifestyle management is of paramount importance for the treatment of GDM. In pharmacotherapy, insulin remains the long-established mainstay of treatment. NPH (Neutral Protamine Hagedorn) and soluble human insulin have long been estab…