Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy

Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease associated with sudden cardiac death (SCD). It is most frequently caused by mutations in genes encoding desmosomal proteins. However, there is growing evidence that ACM is not exclusively a desmosome disease but rather appears to be a disease of the connexoma. Fibroadipose replacement of the right ventricle (RV) had long been the hallmark of ACM, although biventricular involvement or predominant involvement of the left ventricle (LD-ACM) is increasingly found, raising the challenge of differential diagnosis with arrhythmogenic dilated cardiomyopathy (a-DCM). A-DCM, ACM, and LD-ACM are increasingly acknowledged as a single nosological entity, the hallmark of which is electrical instability. Our aim was to analyze the complex molecular mechanisms underlying arrhythmogenic cardiomyopathies, outlining the role of inflammation and autoimmunity in disease pathophysiology. Secondly, we present the clinical tools used in the clinical diagnosis of ACM. Focusing on the challenge of defining the risk of sudden death in this clinical setting, we present available risk stratification strategies. Lastly, we summarize the role of genetics and imaging in risk stratification, guiding through the appropriate patient selection for ICD implantation.

Positive Anti-GABAB Receptor Antibodies in a Patient with Hashimoto’s Thyroiditis and Bipolar Affective Disorder

A kind of autoimmune encephalitis with positive autoantibodies toward the B1 subunit of the gamma-aminobutyric acid-type B receptor is known as anti-GABABR encephalitis. It is an autoimmune brain disorder with typical manifestations of a limbic encephalitis. It can coexist with positive anti-thyroid autoantibodies. We described a 57-year-old woman who was diagnosed with a bipolar affective disorder. The patient had high titers of anti-thyroid peroxidase antibodies, and she also was positive for anti-GABABR antibodies. There is a question, if this case is a kind of comorbidity of anti-thyroid and anti-brain autoimmunity or is it a single nosological entity – a kind of Hashimoto’s encephalopathy?

On Perception and Consciousness in HPPD: A Systematic Review

Hallucinogen-persisting perception disorder (HPPD) features as a diagnostic category in the DSM-5, ICD-11, and other major classifications, but our knowledge of the phenomenology of the perceptual symptoms involved and the changes in consciousness during the characteristic “flashbacks” is limited. We systematically evaluated original case reports and case series on HPPD to define its phenomenology, associated (psycho)pathology, and course. Our search of PubMed and Embase yielded 66 relevant publications that described 97 people who, together, experienced 64 unique symptoms of HPPD. Of these, 76% concerned symptoms characteristic of Alice in Wonderland syndrome, over 50% non-visual symptoms, and 38% perceptual symptoms not clearly linked to prior intoxication states. This is in contrast with the DSM-5 diagnostic criteria for HPPD. Even though less than half of the patients showed a protracted disease course of over a year, a third achieved remission. However, in patients with co-occurring depression (with or without anxiety) HPPD symptoms persisted longer and treatment outcomes were more often negative. Thus, unlike the acute stages of psychedelic drug intoxication, which may be accompanied by altered states of consciousness, HPPD is rather characterized by changes in the content of consciousness and an attentional shift from exogenous to endogenous phenomena. Since HPPD is a more encompassing nosological entity than suggested in the DSM-5, we recommend expanding its diagnostic criteria. In addition, we make recommendations for clinical practice and future research.

Trigeminal Neuralgia Associated With a Solitary Pontine Lesion: A Case Report

Trigeminal neuralgia associated with brainstem lesions is currently considered as a rare condition and only few patients have been reported so far in literature. Tohyama and colleagues recently proposed the nosological entity of trigeminal neuralgia associated with solitary pontine lesion, trying to categorize it as a new clinical syndrome on its own. Based on this description, trigeminal neuralgia associated with solitary pontine lesion patients have an identical clinical presentation compared to other patients with trigeminal neuralgia but have a solitary pontine lesion. The nature of the pontine lesion has been attributed to several etiologies, including ischemia, demyelination or previous pontine viral neuritis. In those patients with a putative demyelinating lesion, a definite diagnosis of multiple sclerosis cannot be made due to the lack of dissemination in space. Very little is known in relation to the cerebrospinal fluid characteristics of this population of patients. We present a case of a 42-year-old man suffering of trigeminal neuralgia associated with solitary pontine lesion with a possible demyelinating etiology. The patient herein described had an atypical trigeminal neuralgia associated with a single pontine lesion. The MRI characteristics of the lesion, along with the presence of oligoclonal bands in the cerebrospinal fluid, suggested a demyelinating etiology. Trigeminal neuralgia associated with a solitary pontine lesion may be categorized as a possible manifestation of solitary sclerosis. Future research need to reveal which features can predict the risk of conversion to clinically defined multiple sclerosis and which treatments modify this risk.

TBE in Russia

TBE was first revealed in the Far-East Taiga Forest in the Soviet Union in springs and summers between 1933-19351 and it was further investigated as of 1937 at a large multidisciplinary expedition led by Professor Lev Zilber, the Head of the Moscow Medical Virology laboratory.2,3 The expedition demonstrated that the disease develops in humans after a tick bite,4 and the “Taiga Tick” Ixodes persulcatus was established as the virus carrier. The viral etiology of the disease was confirmed and the first strain of TBE virus (TBEV) was isolated. The clinical disease spectrum in humans and the respective pathology were described and the effectiveness of immunoglobulin-therapy was shown.5 Based on morphological studies since 1937 TBE was assigned to the group of neuro-infections as an independent nosological entity.6,7

Familial Non-Medullary Thyroid Carcinoma in Pediatric Age: Our Surgical Experience

Background The purpose of the article was to evaluate the existence of significant clinical, pathological and prognostic differences between familial and sporadic form of pediatric non-medullary thyroid carcinoma, in order to tailor the therapeutic strategy to be adopted for patients with family history. Methods We analyzed the records of 76 pediatric patients that underwent surgery for differentiated thyroid cancer from 2014 to 2019 at the Surgical Pathology Department of the University of Pisa, Italy. Among these, 20 (26,3%) had positive family history (familial non-medullary thyroid carcinoma—FNMTC group) while 56 (73.7%) were affected by sporadic forms (sporadic non-medullary thyroid carcinoma—SNMTC group). Results In our study, the correlation between the FNMTC and the SNMTC group showed no difference in terms of tumor features like multifocality, bilaterality, capsular/extracapsular invasion and the presence of vascular emboli. A statistical significance, on the other hand, was revealed by observation of clinical outcomes, such as distant metastasis (p = 0,022), persistence of disease (p = 0,054) and necessity of radioiodine sessions (p = 0,005). Conclusions These findings suggest that family history may have an independent role on the outcome, expressing its action through an intrinsic more aggressive biological behavior. Therefore, familial non-medullary thyroid carcinoma in children represents a nosological entity that requires an accurate pre-operative evaluation, an adequate surgical strategy and a careful follow up.

Frequency of myelin oligodendrocyte glycoprotein antibodies in a large cohort of neurological patients

Background Myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOG-AD) is recognized as a distinct nosological entity. IgG antibodies against MOG (MOG-Ab) overlap with neuromyelitis optica spectrum disorders (NMOSD) phenotype in adults. However, an increasing number of clinical phenotypes have been reported to be associated with MOG-Ab. Objective To investigate the seroprevalence of MOG-Ab under consideration of demographics, disease entities and time course in a large cohort of unselected neurological patients. Methods Blood samples of 2.107 consecutive adult neurologic patients admitted to our department between 2016-2017 were tested for MOG-Ab using a cell-based assay. MOG-Ab persistence was analyzed in follow-up samples. External validation was performed in two independent laboratories. Results We found MOG-Ab in 25 of 2.107 (1.2%) patients. High antibody ratios were mostly associated with NMOSD and MOG-AD phenotype (5/25). Low ratios occurred in a wide range of neurological diseases, predominantly in other demyelinating CNS diseases (5/25) and stroke (6/25). MOG-Ab persistence over time was not confined to NMOSD and MOG-AD phenotype. Conclusion The present study demonstrates the occurrence of MOG-Ab in a wide range of neurological diseases. Only high MOG-Ab ratios were associated with a defined clinical phenotype, but low MOG-Ab ratios were not. The diagnostic value of low MOG-Ab is thus highly limited.

A Case of Giant Aortoiliac Aneurysm Rupture when Open Repair Seems a One-Way Street

Giant aortoiliac aneurysm is a rare nosological entity. Owing to the increased diameter, the risk of rupture is extremely high and, similarly, the repair is extremely challenging. In this article, open surgical repair of a ruptured giant aortoiliac aneurysm in a 72-year-old male is described. A bifurcated Dacron graft was used with left internal iliac artery revascularization, while the contralateral internal iliac artery was ligated. The patient had an uneventful recovery.

Chronic Obstructive Pulmonary Disease Related to Wood and Other Biomass Smoke: A Different Phenotype or Specific Diseases?

Around 41% of the world’s population continue using solid fuels, including wood and other types of biomass, for cooking or heating their homes. Long-term indoor exposure to wood smoke, and biomass smoke in general, is a risk factor for developing chronic obstructive pulmonary disease (COPD). In some regions of the world, biomass exposure is a more frequent cause of COPD than exposure to cigarette smoke. Recently it has been described notable differences between COPD associated with wood smoke (WS-COPD) and that caused by tobacco smoking (TS-COPD): significantly less emphysema and more airway inflammation in WS-COPD. Recognizing these differences, some authors have suggested that WS-COPD should be considered a new COPD phenotype. This chapter summarizes the differences between WS-COPD and TS-COPD. The information about the characteristics of COPD caused by other types of biomass fuels, different from wood, is very scarce. Accepting that the smoke derived from wood burning and tobacco smoking have some differences (etiology), the inhalation patterns are different (pathogenesis) and the physiopathological mechanisms they induce may also differ, we analyze if the disease caused by indoor chronic exposure to wood smoke should be considered as another COPD phenotype or a distinct nosological entity.