Nikolai P Pace

University of Malta · Department of Anatomy

https://rdcu.be/dIKmQ

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 anthropometr...

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 patie...

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 coronar...

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, evidenc...

Importance Hidradenitis suppurativa (HS) is a complex trait that has a monogenic etiology in a subset of patients. Variation in genes that encode proteins of the γ secretase complex, particularly NCSTN, account for few patients who exhibit familial forms of HS. Thus far, extensive genotype-phenotype correlations have been lacking. Objective To est...

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...

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 cou...

Hidradenitis Suppurativa (HS) is a chronic, suppurative condition of the pilosebaceous unit. The typical HS patient is characterized as obese, smoker, manifesting nodules, abscesses and/or draining tunnels predominantly distributed in intertriginous skin. It is established that lifestyle and genetic factors are the main pathophysiological drivers o...

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 metaboli...

1) Background: 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 scorin...

Hidradenitis suppurativa (HS) is a chronic inflammatory condition of the pilosebaceous unit characterised by inflammation and hyperkeratinisation at the pilosebaceous unit. A small, but significant proportion of HS patients have a strong genetic susceptibility to (or a syndromic form of) the disease. Current HS treatment guidelines prioritise patie...

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 class...

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. Gen...

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 ethn...

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 definitio...

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...

We describe a 15q microdeletion syndrome in a patient with co-morbid plamoplantar keratoderma type 1 and Loeyz-Dietz syndrome Type 3

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 heal...

This authoritative textbook provides a much-needed guide for postgraduate trainees preparing for the European Board and College of Obstetrics and Gynaecology (EBCOG) Fellowship examination. Published in association with EBCOG, it fully addresses the competencies defined by the EBCOG curriculum and builds the clinical practice related to these compe...

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-autoimmun...

The COST Action Gene Regulation Ensemble Effort for the Knowledge Commons (GREEKC, CA15205, www.greekc.org) organized nine workshops in a four-year period, starting September 2016. The workshops brought together a wide range of experts from all over the world working on various parts of the knowledge cycle that is central to understanding gene regu...

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 epitheliu...

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 stud...

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 establi...

Aims The reported frequency of monogenic defects of beta cell function in gestational diabetes (GDM) varies extensively. This study aimed to evaluate the frequency and molecular spectrum of variants in genes associated with monogenic/atypical diabetes in non-obese females of Maltese ethnicity with GDM. Methods 50 non-obese females who met the Inte...

Decompression sickness (DCS) develops due to inert gas bubble formation in bodily tissues and in the circulation, leading to a wide range of potentially serious clinical manifestations. Its pathophysiology remains incompletely understood. In this study, we aim to explore changes in the human leukocyte transcriptome in divers with DCS compared to cl...

Conflict of interest: the authors declare that they have no conflicts of interest. DM and NPP contributed equally to this work and should be considered joint first authors. Dear Editor, We report two patients with hidradenitis suppurativa (HS). The proband was a 21‐year‐old man. He and his 45‐year‐old mother were being seen at the dermatology depar...

A growing body of evidence shows that the neutrophil-lymphocyte ratio (NLR) is a surrogate index of systemic inflammation in several chronic diseases. Conflicting associations between NLR and gestational diabetes (GDM) have been reported in individual studies. This meta-analysis sought to investigate the association between NLR and GDM. The PubMed,...

Background: Netherton syndrome (NS) is a genodermatosis caused by loss-of-function mutations in SPINK5, resulting in aberrant LEKTI expression. Method: Next-generation sequencing of SPINK5 (NM_001127698.1) was carried out and functional studies were performed by immunofluorescence microscopy of a lesional skin biopsy using anti-LEKTI antibodies....

Type 2 diabetes mellitus (T2DM) is characterised by insulin resistance and eventual pan-creatic β-cell dysfunction, resulting in persistent high blood glucose levels. Endocrine disrupting chemicals (EDCs) such as bisphenol A (BPA) are currently under scrutiny as they are implicated in the development of metabolic diseases, including T2DM. BPA is a...

A 17-month old boy was referred to the genetic clinic in view of anodontia, hypohidrosis, scalp hypotrichosis, atrichia of the eyelashes, xerotic skin and a short columella. A diagnosis of X-Linked hypohidrotic ectodermal dysplasia (XLHED) was considered. The boy was born to healthy non-consanguineous parents of Maltese-Caucasian ethnicity at 38 we...

Background Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly during the non‐REM phase of sleep. In m...

Gestational diabetes (GDM) is a common metabolic complication of pregnancy that is generally asymptomatic in its clinical course, although it is potentially associated with a wide range of both maternal and foetal complications. The population prevalence of GDM varies widely, depending on the clinical diagnostic criteria, ethnicity, demographics an...

Background: Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels. Methods: We describe two unrelated femal...

Breast cancer is one of the most common malignancies in females. It is an etiologically complex disease driven by a multitude of cellular pathways. The proliferation and spread of breast cancer is intimately linked to cellular glucose metabolism, given that glucose is an essential cellular metabolic substrate and that insulin signalling has mitogen...

Introduction: There are multiple published conflicting associations of the adipocytokine visfatin with gestational diabetes. In this study, we attempted to investigate this relationship via a systematic review of the published literature. Evidence acquisition: Literature retrieval using PubMed, Google Scholar, Scopus and Hydi databases followed...

Aims Updates on the latest diagnostic methods and features of MODY (Maturity Onset Diabetes of the Young) and promotion of education and awareness on the subject are discussed. Method Previous recommendations were identified using PubMed and using combinations of terms including “MODY” “monogenic diabetes” “mature onset diabetes” “MODY case revie...

The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α (HNF1A) are responsible for most forms of monogenic diabetes in Northern European populations. Genetic analysis through a combin...

supplemetary_methods – Supplemental material for Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family

Background Whilst most of the early inflammatory bowel disease (IBD) genetic studies were performed on Caucasian subjects, it is now increasingly recognised that different genes might be involved in different populations, especially from different ethnic backgrounds. Prior research in Maltese IBD patients had in fact determined that prevalence of N...

Background Whilst most inflammatory bowel disease (IBD) treatment algorithms depend on disease severity classification, no formal validated definitions exist on what constitutes mild, moderate and severe ulcerative colitis (UC) and Crohn's disease (CD). Furthermore, the genetic architecture of disease severity may be distinct from that of disease s...

Background NOD2 was the first IBD susceptibility gene to be discovered, back in 2001. Despite the discovery of many other susceptibility loci, NOD2 remains of interest as it is one of the few risk loci that is not shared between Ulcerative colitis (UC) and Crohn's disease (CD), as it only contributes to the latter. Whilst NOD2 polymorphisms are ver...

BACKGROUND: A number of studies have investigated the motivations that underlie career choice in medical students. However, the motivations to learn the biomedical sciences in preclinical medical students are not well understood. The aim of this study was to characterize and describe the differences in components of motivation between first and sec...

Background: The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune diabetes associated with a damaging HNF1β mutation...

Poster presented at the RD-Connect final meeting held in Athens last week 16th-18th April 2018

Background A relationship has been established between socioeconomic status and hypertension. The aim of this study was to determine the prevalence of hypertension and to explore the links between hypertension and socioeconomic factors in the adult population of Malta. Methods A national representative cross-sectional health examination study was...

Background Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different ar...

Birth weight depends on the elaborate interaction between maternal and foetal genotypes, placental function, maternal nutrition and lifestyle and their effect on epigenetic regulators ofgene activity. The maternal environment in which the foetus develops is a critical factor indetermining birth weight. This review provides an overview of the effect...

Aims: Metabolic syndrome (MetS) is a public health epidemic, typically with female predominance. The aim was to analyse the effect of gender and age on MetS and its components; analyse effects of lifestyle, diabetes mellitus and identify predictors for MetS including TG/HDL ratio, on a national level in a Mediterranean island. Findings will provid...

Colorectal cancer (CRC) is the fourth commonest type of malignancy after breast, lung and prostate in the USA and accounts for approximately 49,190 deaths annually in USA alone. The 5-year survival rate of CRC has increased over the past decades, in part, due to greater awareness and the widespread implementation of national screening programmes. R...

Background Diabetes type 2 and obesity are well-established global epidemics and contributors to clinical, social and economic health burdens. The prevalence rates of these diseases are still on the rise among countries resulting in a corresponding public health burden. The Mediterranean island of Malta, known for it’s high diabetes and obesity rat...

The global obesity epidemic, dubbed “globesity” by the World Health Organisation, is a pressing public health issue. The aetiology of obesity is multifactorial incorporating both genetic and environmental factors. Recently, epidemiological studies have observed an association between microbes and obesity. Obesity-promoting microbiome and resultant...

Background Type 2 diabetes mellitus constitutes a global epidemic and a major burden on health care systems across the world. Prevention of this disease is essential, and the development of effective prevention strategies requires validated information on the disease burden and the risk factors. Embarking on a nationally representative cross-sectio...

Toll-like receptors (TLRs) are key players in the pathogenesis of inflammatory conditions including coronary arterial disease (CAD). They are expressed by a variety of immune cells where they recognize pathogen-associated molecular patterns (PAMPs). TLRs recruit adaptor molecules, including myeloid differentiation primary response protein (MYD88) a...

Background Obesity is a global epidemic with the Mediterranean island of Malta being no exception. The World Health Organization (WHO) has identified Malta as one of the European countries with the highest obesity prevalence. Method A cross‐sectional study was conducted (2014–2016) under the auspices of the University of Malta. The prevalence of o...

Parkinson’s disease [PD] is the second most common neurodegenerative disorder after Alzheimer’s disease, affecting 1% of the population over the age of 55. The underlying neuropathology seen in PD is characterised by progressive loss of dopaminergic neurons in the substantia nigra pars compacta with the presence of Lewy bodies. The Lewy bodies are...

Cardiovascular disease [CVD] is a leading cause of mortality accounting for a global incidence of over 31%. Atherosclerosis is the primary pathophysiology underpinning most types of CVD. Historically, modifiable and non-modifiable risk factors were suggested to precipitate CVD. Recently, epidemiological studies have identified emerging risk factors...

The Malta BioBank (BBMRI.mt) forms part of the new inter-faculty Centre for Molecular Medicine and BioBanking at the University of Malta. The clinical catalogue holds a number of disease collections including: the Globin Bank; Parkinson’s Disease (PD); Diabetes; Multiple Sclerosis; renal disorders; various cancers and rare diseases. The Globin Bank...

http://www.reactome.org/cgi-bin/control_panel_st_id?ST_ID=REACT_604.4

Actions needed to meet new economic challenges are discussed. It is clear that industrial production growth in the United States is stalled by the flood of imports that are tied in part, to the strong dollar. Policies relating to money and credit, federal deficits, trade relations, and foreign aid require reassessment and adjustment. Assuming no ma...