Investigation of a Large Kindred Reveals Cardiac Calsequestrin () as a Cause of Brugada Syndrome.

Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart.

Aim Of The Study: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant Brugada syndrome.

Methods: Clinical and genetic studies were performed.

DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology.

Background: In the recent years, there was an important improvement in the understanding of the pathogenesis of hereditary angioedema (HAE). Notwithstanding, in a large portion of patients with unknown mutation (HAE-UNK) the genetic cause remains to be identified.

Objectives: To identify new genetic targets associated with HAE, a large Argentine family with HAE-UNK spanning 3 generations was studied.

The Role of Genetics in the Management of Heart Failure Patients.

Over the last decades, the relevance of genetics in cardiovascular diseases has expanded, especially in the context of cardiomyopathies. Its relevance extends to the management of patients diagnosed with heart failure (HF), given its capacity to provide invaluable insights into the etiology of cardiomyopathies and identify individuals at a heightened risk of poor outcomes. Notably, the identification of an etiological genetic variant necessitates a comprehensive evaluation of the family lineage of the affected patients.

A Novel Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.

Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern.

A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.

Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated to sudden cardiac death. Overall, variants have been identified in eighteen genes encoding for ion channel subunits and seven genes for regulatory proteins. Recently, a missense variant in DLG1 has been found within a BrS phenotype-positive patient.

The Genetics of Hereditary Angioedema: A Review.

Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 esterase inhibitor), are responsible for the majority of cases of hereditary angioedema. C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases the vascular permeability and allows the flow of fluids into the extracellular space and results in angioedema.

Hikikomori: psychopathology and differential diagnosis of a condition with epidemic diffusion.

Objective: Hikikomori, from the Japanese words 'hiku' (to pull) and 'komoru' (to withdraw), is a clinical condition in which a subject locks himself/herself into his/her own house for more than 6 months. This condition is becoming relevant in Japan and other Asian countries, with new cases emerging in Europe and a steep increase in its incidence.

Methods: In this article, the various psychopathological and diagnostic hypothesis and the different criteria proposed by the various authors have been analysed and compared, paying attention also to the new studies conducted in Europe and to therapeutic perspectives that are opening up for its treatment.

rTMS Reduces Psychopathological Burden and Cocaine Consumption in Treatment-Seeking Subjects With Cocaine Use Disorder: An Open Label, Feasibility Study.

Cocaine use disorder (CUD) currently represents a notable public health concern, linked with significant disability, high chances of chronicity, and lack of effective pharmacological or psychological treatments. Repetitive transcranial magnetic stimulation (rTMS) is supposed to be a potential therapeutic option for addictive disorders. Aim of this study was to evaluate the feasibility of rTMS on (1) cocaine craving and consumption and (2) other comorbid psychiatric symptoms.

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.

Background: Cobalamin metabolism disorders are rare, inherited diseases which cause megaloblastic anaemia and other clinical manifestations. Early diagnosis of these conditions is essential, in order to allow appropriate treatment as early as possible.

Case Presentation: Here we report the case of a patient who was apparently healthy until the age of 20, when she presented with impaired renal function and normocytic anaemia.

Augmenting pharmacotherapy with neuromodulation techniques for the treatment of bipolar disorder: a focus on the effects of mood stabilizers on cortical excitability.

: Mood stabilizers and antipsychotics have been demonstrated to be effective in Bipolar Disorder, with lithium as the gold standard. However, the presence of adverse events and treatment-resistance is still a relevant issue. To this respect, the use of brain stimulation techniques may be considered as an augmentation strategy, with both Transcranial Magnetic Stimulation (TMS) and Transcranial Direct Current Stimulation (tDCS) having shown some level of efficacy in bipolar patients although clinical trials are still not sufficient to draw any conclusion.

The emergence of Exercise Addiction, Body Dysmorphic Disorder, and other image-related psychopathological correlates in fitness settings: A cross sectional study.

Introduction: In a society that perpetuates the strive for a perfect appearance, a fit body has become synonymous with success, but simultaneously hard to achieve. This represents a fertile ground for the development of Exercise Addiction (EA) alongside other disorders, such as Body Dysmorphic Disorder (BDD). This study aims to explore the diffusion of EA in fitness settings in the United Kingdom, Italy, Netherlands, Hungary and the previously unexplored association with appearance anxiety, BDD, self-esteem and the use of fitness supplements.

Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery.

Despite many articles regarding the antihemorrhagic treatment and prophylaxis, there is a lack of experience about how to best conduct major surgical procedures in patients with congenital factor XIII (FXIII) deficiency. Here we report a case of surgery (right inguinal hernia, complicated by heaviness and pain) performed in a patient with FXIII deficiency, receiving recombinant FXIII prophylaxis (Catridecacog 35 UI/kg every 28±2 days). Our experience shows that Catridecacog can be used safely and effectively not only for continued prophylaxis but also in surgery and adds to the very limited body of evidence currently available on surgery in this bleeding disorder.