Congenital neuroblastoma

A 3-day-old baby girl was noted to have abnormal posture and paucity of movement of the left foot. Examination revealed flaccid weakness of the left lower limb. The rest of the neurological examination was normal. MRI revealed an extramedullary extradural intracanalicular lesion extending from caudal to the 10th thoracic vertebral body to L4 and a paraspinal mass from level of L1 to L4 vertebral bodies which was in continuity with the intracanalicular mass through the right L1/L2 neural foramen. This was diagnosed as congenital dumbbell neuroblastoma. Congenital Spinal Neuroblastoma is a solid tumor of the spinal cord which arises in utero. Neuroblastoma has an incidence of 1 in 7000 live births, ranking it as the commonest neoplasm in fetuses and neonates.peer-reviewe

Relationship of hyperglycaemia, hypoglycaemia, and glucose variability to atherosclerotic disease in type 2 diabetes

Objective: Type 2 diabetes mellitus (T2DM) is known to be associated with increased cardiovascular risk. The aim of this study was therefore to investigate the independent effects of hyperglycaemia, hypoglycaemia, and glucose variability on microvascular and macrovascular disease in T2DM. Methods. Subjects with T2DM of 7.8mmol/L (β=15.83, p=0005) was the sole independent predictor of albuminuria in generalised linear regression. Conclusions. This study demonstrates that hypoglycaemia is associated with the occurrence of atherosclerotic disease while hyperglycaemia is associated with microvascular disease in a Caucasian population with T2DM of recent duration.peer-reviewe

Serum immunoglobulin G is a marker of Hidradenitis suppurativa disease severity

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 scoring instruments. However, few clinically available serological parameters have been found to correlate with disease severity. In this study, we sought to investigate the role of serum immunoglobulin (Ig) G, M and A levels as biomarkers of disease severity and to compare them with other, more conventional inflammatory indices, such as the erythrocyte sedimentation rate, C-reactive protein, the neutrophil–lymphocyte ratio, the platelet–lymphocyte ratio and the systemic immune-inflammation index. Methods: In this cross-sectional study, patients were recruited from the only dermatology referral centre in Malta, Europe, and subjected to clinical examination and the assessment of inflammatory and immunologic parameters. Serum IgG, M and A levels were assessed using the Atellica® NEPH 630 System (SIEMENS-Healthineers AF, Erlangen, Germany) nephelometric analyser. Conclusions: Serum IgG, M and A levels correlate with both dynamic and static HS severity scoring systems. Serum IgG behaves as a marker of severe HS disease as categorised by HSS and the IHS4. Our findings suggest that the serum IgG level can be used in the clinical setting as a biomarker of disease severity and, therefore, as an adjunct to clinical severity scoring.peer-reviewe

Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa : an in-silico 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. Genetic and environmental factors are considered the main drivers of these two pathophysiological processes. Despite a considerable proportion of patients having a positive family history of disease, only a minority of patients suffering from HS have been found to harbor monogenic variants which segregate to affected kindreds. Most of these variants are in the ɣ secretase complex (GSC) protein-coding genes. In this manuscript, we set out to characterize the burden of missense pathogenic variants in healthy reference population using large scale genomic dataset thereby providing a standard for comparing genomic variation in GSC protein-coding genes in the HS patient cohort.peer-reviewe

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. The objective of this study was to evaluate the relationship between different body composition phenotypes in individuals with HS. Methods: This was a cross-sectional study of 632 individuals with and without HS from a population with a high prevalence of both obesity and HS. A total of four body composition phenotypes were generated based on BMI and metabolic status (defined using either the metabolic syndrome definition or the homeostasis model of insulin resistance (HOMA-IR)): metabolically healthy overweight/obese (MHOWOB), metabolically unhealthy overweight/obese (MUOWOB), metabolically healthy normal weight (MHNW), and metabolically unhealthy normal weight (MUNW). Results: Generally, subjects with HS exhibited a worse metabolic profile with higher levels of indices of central adiposity measures (including Visceral Adiposity Index and waist circumference), systolic blood pressure and markers of insulin resistance, as well as a higher prevalence of the metabolic syndrome. Moreover, when sub-stratified into the different body composition phenotypes, individuals with HS typically also demonstrated adverse metabolic characteristics relative to controls matched for both adiposity and metabolic health, particularly in the normal weight category and despite being classified as metabolically healthy. Being metabolically unhealthy in addition to being overweight/obese increases an individual’s risk of HS. Conclusions: Metabolic risk-assessment should be prioritized in the clinical management of individuals with HS even in those who are lean. Patients attending HS clinics provide a valuable opportunity for targeted cardiovascular risk reduction with respect to the management of both obesity and metabolic health.peer-reviewe

Rituximab : a novel treatment for Pemphigus in Malta

Until recently, the main treatment for pemphigus has been systemic corticosteroids, usually administered at high doses with consequent side-effects. Lately, the biological agent rituximab has been introduced as an effective treatment for this condition. This article describes seven cases of pemphigus successfully treated with rituximab in Malta and discusses the benefits and drawbacks of this novel treatment modality.peer-reviewe

When three is not a magic number : a case of native triple-valve endocarditis caused by Streptococcus agalactiae

We present a case of a 47-year-old female who presented with septic shock and a hyperosmolar hyperketotic state, accompanied by episodes of unresponsiveness. As part of the extensive investigations which took place, a trans-oesophageal echocardiogram (TOE) revealed the presence of infective endocarditis in three native valves – the tricuspid valve, pulmonary valve and the aortic valve. Blood cultures showed evidence of bacteraemia with Streptococcus agalactiae. The hyperosmolar hyperketotic state was controlled after optimisation of insulin treatment and the patient’s condition was relatively stable for weeks with intravenous antibiotics. The patient’s condition started deteriorating after multiple episodes of septic embolisation from the pulmonary valve vegetation, leading to urgent mechanical aortic, tissue pulmonary and tricuspid valve replacements in a tertiary centre in the United Kingdom; as well as a dual-chamber pacemaker implantation for post-operative complete heart block (CHB). After arrival back to Malta, the postoperative sternotomy wound was becoming recurrently infected, eventually leading to wound breakdown and overwhelming sepsis. Despite optimal medical treatment, wound care and intensive care support, the patient suffered from multi-organ failure and then passed away.peer-reviewe

Psoriasis: Keratinocytes or Immune Cells - Which Is the Trigger?

Background: Psoriasis is a common, chronic inflammatory skin disorder, which can significantly impact quality of life. Despite major breakthroughs in our understanding of the pathogenesis of psoriasis, the chronological order of the underlying mechanisms leading to the development of psoriatic plaques remains to be completely understood. Summary: Although psoriasis is classically perceived as a T-cell disease, it is now well recognized that T lymphocytes do not function in exclusivity. This theory is supported by evidence from transgenic murine models that develop marked psoriasiform disease. In addition, immune cells and cytokines regulate both early and late events involved in the pathogenesis of psoriasis. Key Messages: Psoriasis is a complex disease - a dynamic interplay between immune cells, keratinocytes, and various other skin-resident cells, such as endothelial and immune cells. The contribution of each cell type is crucial in the initiation and maintenance phases of psoriatic alterations.SCOPUS: re.jinfo:eu-repo/semantics/publishe

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. The objective of this review is to provide a broad overview of the role of genetics in various aspects of hidradenitis suppurativa, specifically the pathophysiology, diagnosis, and clinical application.peer-reviewe

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. In this review we assimilate the existing literature regarding the role played by the human microbiome in HS in various contexts of the disease, including the pathophysiologic, therapeutic, and potentially, diagnostic as well prognostic. In conclusion, the role played by the microbiome in HS is extensive and relevant and can have bench-to-bedside applications.peer-reviewe