Attitudes towards disclosure of familial genetic risk in a Mediterranean island population - A survey of the Maltese population.

Germline genetic testing has implications that extend beyond the individual patient to relatives, particularly for high-penetrance variants implicated in hereditary cancer or neurodegenerative syndromes. Many countries encourage patient-led communication to inform at-risk relatives, although the efficacy and uptake of this approach varies. Alternative scenarios envisage direct contact mediated by clinicians.

Anthropometric and Biochemical Correlations of Insulin Resistance in a Middle-Aged Maltese Caucasian Population.

Background: Insulin resistance (IR) is associated with increased cardiovascular disease risk, and with increased all-cause, cardiovascular, and cancer mortality. A number of surrogate markers are used in clinical practice to diagnose IR. The aim of this study was to investigate the discriminatory power of a number of routinely available anthropometric and biochemical variables in predicting IR and to determine their optimal cutoffs.

Differences in hidradenitis suppurativa patterns of cutaneous involvement between sexes: Insights from a cross-sectional study.

Hidradenitis suppurativa is a chronic, inflammatory condition of the pilosebaceous unit in which patients manifest multiple, painful cutaneous nodules, abscesses and tunnels. These lesions are described to affect the intertriginous zones, however, the condition exhibits significant phenotypic variability. Such variability is influenced by the patients lifestyle, genetic predisposition and sex.

Association between a polygenic lipodystrophy genetic risk score and diabetes risk in the high prevalence Maltese population.

Background: Type 2 diabetes (T2DM) is genetically heterogenous, driven by beta cell dysfunction and insulin resistance. Insulin resistance drives the development of cardiometabolic complications and is typically associated with obesity. A group of common variants at eleven loci are associated with insulin resistance and risk of both type 2 diabetes and coronary artery disease.

Phenotyping obesity: A focus on metabolically healthy obesity and metabolically unhealthy normal weight.

Over the past 4 decades, research has shown that having a normal body weight does not automatically imply preserved metabolic health and a considerable number of lean individuals harbour metabolic abnormalities typically associated with obesity. Conversely, excess adiposity does not always equate with an abnormal metabolic profile. In fact, evidence exists for the presence of a metabolically unhealthy normal weight (MUHNW) and a metabolically healthy obese (MHO) phenotype.

Investigating Adiposity-Related Metabolic Health Phenotypes in Patients with Hidradenitis Suppurativa: A Cross-Sectional Study.

Background: Obesity and hidradenitis suppurativa (HS) are related through meta-inflammation and are both associated with increased cardiometabolic risk. Notwithstanding, cardiometabolic pathology is not uniform in obesity and a subset of individuals with excess adiposity exhibit a healthy metabolic profile. Whilst the incidence of cardiometabolic endpoints and transitions across different adiposity-related body composition phenotypes within several populations and across different ethnicities have been investigated, data regarding metabolic health (MetH) and body composition phenotypes in individuals with HS are lacking.

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.

Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psychiatric genetic testing (PsychGT) and genetic counseling (PsychGC).

Obesity and hidradenitis suppurativa: targeting meta-inflammation for therapeutic gain.

Hidradenitis suppurativa (HS) is a chronic, inflammatory condition of the pilosebaceous unit. The typical patient with HS is characterized as someone with obesity, who smokes and who has nodules, abscesses and/or draining tunnels predominantly distributed in intertriginous skin. It has been established that lifestyle and genetic factors are the main pathophysiological drivers of HS.

The relationship between adipokine levels and bone mass-A systematic review.

Introduction: Adipose tissue is the source of a broad array of signalling molecules (adipokines), which mediate interorgan communication and regulate metabolic homeostasis. Alterations in adipokine levels have been causally implicated in various metabolic disorders, including changes in bone mass. Osteoporosis is the commonest progressive metabolic bone disease, characterized by elevated risk of fragility fractures as a result of a reduced bone mass and microarchitectural deterioration.

Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine.

Hidradenitis suppurativa (HS) is a chronic inflammatory condition of the pilosebaceous unit characterized by inflammation and hyperkeratinization. A small but significant proportion of patients with HS have a strong genetic susceptibility to (or a syndromic form of) the disease. Current HS treatment guidelines prioritize patients who manifest classic HS and may therefore not be suitable for the minority of patients harbouring genetically driven forms of disease.

Serum Immunoglobulin G Is a Marker of Hidradenitis Suppurativa Disease Severity.

Hidradenitis suppurativa (HS) is a chronic inflammatory condition of the skin that is brought about by autoinflammation and hyperkeratosis at the pilosebaceous unit. The clinical severity of HS can be measured using static (Hurley Severity Scoring (HSS)) and/or dynamic (International HS Severity Scoring System (IHS4)) severity scoring instruments. However, few clinically available serological parameters have been found to correlate with disease severity.

Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An study.

Hidradenitis suppurativa (HS) is a disease of the pilosebaceous unit characterized by recurrent nodules, abscesses and draining tunnels with a predilection to intertriginous skin. The pathophysiology of HS is complex. However, it is known that inflammation and hyperkeratinization at the hair follicle play crucial roles in disease manifestation.

Reduced leukocyte mitochondrial copy number in metabolic syndrome and metabolically healthy obesity.

Objective: This study aimed to investigate the associations between peripheral blood leukocyte mitochondrial copy number, metabolic syndrome, and adiposity-related body composition phenotypes in a high prevalence population.

Methods: A single center cross-sectional study was conducted, consisting of 521 middle-aged subjects of Maltese-Caucasian ethnicity. Participants were stratified according to the presence of metabolic syndrome and different metabolic health definitions based on NCEP-ATP III criteria.

Prevalence rates of metabolic health and body size phenotypes by different criteria and association with insulin resistance in a Maltese Caucasian population.

Introduction: Hyperinsulinemia and insulin resistance are known to be associated with increased cardiovascular morbidity and mortality. A metabolically unhealthy phenotype is frequently used as a surrogate marker for insulin resistance. The aims of the current study were to compare the prevalence of the body size phenotypes using different definitions of metabolic health and to investigate which one of them is most strongly associated with insulin resistance in men and women.

The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Hidradenitis suppurativa is a chronic, suppurative condition of the pilosebaceous unit manifesting as painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin. Great strides have been made at elucidating the pathophysiology of hidradenitis suppurativa, which appears to be the product of hyperkeratinization and inflammation brought about by environmental factors and a genetic predisposition. The identification of familial hidradenitis suppurativa has sparked research aimed at identifying underlying pathogenic variants in patients who harbor them.

Sex differences in cardiometabolic abnormalities in a middle-aged Maltese population.

Objectives: There are sex differences in distribution of fat and in the prevalence of overweight and obesity. We therefore sought to explore sex differences in the prevalence of adiposity-metabolic health phenotypes, in anthropometric and cardio-metabolic parameters, and in the relationship between body mass index (BMI) categories and metabolic health.

Methods: We conducted a cross-sectional study carried out between January 2018 and June 2019, of a nationally representative sample of the Maltese Caucasian population aged 41 ± 5 years.

The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review.

Hidradenitis suppurativa is a chronic disease of the pilosebaceous unit. The name of the condition is a testament to the presumed relationship between the disease and the microbiome. The pathophysiology of hidradenitis suppurativa is, however, complex and believed to be the product of a multifactorial interplay between the interfollicular epithelium, pilosebaceous unit, microbiome, as well as genetic and environmental factors.

Frequency and spectrum of glucokinase mutations in an adult Maltese population.

Aim: To investigate the frequency and spectrum of glucokinase (GCK) mutations in a cohort of adults from an island population having a high prevalence of diabetes mellitus (DM).

Methods: A single-centre cohort study was conducted, including 145 non-obese adults of Maltese-Caucasian ethnicity with impaired fasting glycaemia (IFG) or non-autoimmune diabetes diagnosed before the age of 40 years. Bidirectional sequencing of the GCK coding regions was performed.

Characterisation of body size phenotypes in a middle-aged Maltese population.

Obesity is increasingly recognised as being a heterogeneous disease. Some obese individuals may present a metabolically healthy profile (metabolically healthy obese (MHO)), while some normal weight individuals exhibit an adverse cardiometabolic phenotype (metabolically unhealthy normal weight individuals (MUHNW)). The objectives of the present study were to examine the prevalence and associated characteristics of the different body composition phenotypes within a Maltese cohort.

Metabolic syndrome and hidradenitis suppurativa: epidemiological, molecular, and therapeutic aspects.

Hidradenitis suppurativa (HS) is a chronic, suppurative condition of the pilosebaceous unit. Patients suffering from HS demonstrate a molecular profile in keeping with a state of systemic inflammation and are often found to fit the criteria for a diagnosis of metabolic syndrome (MetS). In this paper, we review the literature with regards to established data on the prevalence of MetS in HS patients and revise the odds ratio of comorbid disease.