Sex disparities in clinical features and burden of narcolepsy type 1.

To investigate potential sex-related differences in patients with narcolepsy type 1, we carried out an analysis of baseline data from 93 women and 89 men with narcolepsy type 1 who participated in the TElemedicine for NARcolepsy (TENAR) trial. The following data were considered: sociodemographics; diagnostic (disease history, polysomnography, orexin, human leukocyte antigen) and clinical features, including sleepiness (Epworth Sleepiness Scale), cataplexy and other narcolepsy symptoms; disease severity (Narcolepsy Severity Scale); pharmacological treatment; depressive symptoms (Beck Depression Inventory); and self-reported relevance of eight narcolepsy-related issues. We found that, compared with men, significantly more women reported automatic behaviours (55.

Work productivity and activity impairment in patients with narcolepsy type 1.

The aim of this study was to assess work productivity and activity impairments and to explore their association with excessive daytime sleepiness, body mass index (BMI), depression, and anxiety in patients with narcolepsy type 1. We carried out a cross-sectional study in which patients with narcolepsy type 1 and matched controls for sex, age, and education were assessed for occupational features, EDS (Epworth Sleepiness Scale), BMI, depression (Beck Depression Inventory), anxiety (State-Trait Anxiety Inventory), and Work Productivity and Activity Impairment (WPAI). Different statistical approaches were used to investigate differences between groups and correlations between WPAI scores and clinical features.

Patient-reported outcome measure to implement routine assessment of cancer survivors' unmet needs: An overview of reviews and COSMIN analysis.

As the number of cancer survivors (CSs) is increasing worldwide, providing services relevant to the specific, unmet needs of these individuals is crucial. There are currently various patient-reported outcome measures (PROMs) whose aim is to identify the unmet needs of CSs. Still, limited guidance supports healthcare providers in choosing the most valid and reliable PROMs for this purpose.

Pneumolabyrinth: a systematic review.

Purpose: The aim of this study is to provide a systematic review of the literature about the etiology, clinical and radiological presentation, surgical management, and outcomes of pneumolabyrinth (PNL).

Methods: A systematic review of the literature was performed including studies published up to September 2020 in electronic databases (PubMed/MEDLINE, EMBASE, Cochrane Library, and Scopus). The PRISMA standard was applied to identify English, Italian, or French-language studies mentioning PNL.

Early palliative care in haematological patients: a systematic literature review.

Background: Early palliative care together with standard haematological care for advanced patients is needed worldwide. Little is known about its effect. The aim of the review is to synthesise the evidence on the impact of early palliative care on haematologic cancer patients' quality of life and resource use.

Short-term and long-term effects of tibolone in postmenopausal women.

Background: Tibolone is a synthetic steroid used for the treatment of menopausal symptoms, on the basis of short-term data suggesting its efficacy. We considered the balance between the benefits and risks of tibolone.

Objectives: To evaluate the effectiveness and safety of tibolone for treatment of postmenopausal and perimenopausal women.

Analysis of gene copy number variations using a method based on lab-on-a-chip technology.

Aims And Background: Copy number variations (CNVs) contribute to genome variability and their pathogenic role is becoming evident in an increasing number of human disorders. Commercial assays for routine diagnosis of CNVs are available only for a fraction of known genomic rearrangements. Thus, it is important to develop flexible and cost-effective methods that can be adapted to the detection of CNVs of interest, both in research and clinical settings.

Short and long term effects of tibolone in postmenopausal women.

Background: Tibolone is an option available for the treatment of menopausal symptoms, based on short-term data on its efficacy. However, there is a need to consider the balance between the benefits and risks of tibolone as there are concerns about breast and endometrial cancer as well as stroke.

Objectives: To evaluate the effectiveness and safety of tibolone in treating postmenopausal women.

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene.

We describe a new approach to investigate alterations in the human MLH1 mismatch repair (MMR) gene. This is based on complementation of the phenotype of a MLH1-defective subclone of the ovarian carcinoma A2780 cells by transfection of vectors encoding altered MLH1 proteins. Measurements of resistance (tolerance) to methylating agents, mutation rate at HPRT, microsatellite instability (MSI), and steady-state levels of DNA 8-oxoguanine were used to define the MMR status of transfected clones.

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.

Large genomic rearrangements are recognized as playing a pathogenic role in an increasing number of human genetic diseases. It is important to develop efficient methods for the routine detection and confirmation of these germline defects. Multiplex ligation-dependent probe amplification (MLPA) is considered an early step for molecular diagnosis of several genetic disorders.

Increased frequency of disease-causing MYH mutations in colon cancer families.

The genetic factors that cause clustering of colorectal cancers (CRCs) other than mutations in the mismatch repair (MMR) genes are not well understood. Clustering in families who lack MMR gene mutations may be attributable to low-penetrance mutations. Hypothetically, mono-allelic MYH mutations could contribute to the risk of CRC in these families.