Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.

Introduction: Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.

Blue Bounty: Italy's Dual-Use Solution for Crab Invasion, Nutritional Value, Safety, and Valorization.

In the past few years, non-native blue crab has been expanding its range in the Adriatic and Mediterranean Seas. However, when non-indigenous species establish a lasting presence in a novel ecosystem and actively expand into other regions, posing potential risks to local biodiversity and economic harm, they are classified as invasive species. For this study, two different batches of blue crabs were collected: one from the Mediterranean Sea and the other from the Adriatic coast area.

Allergic Sensitization and Psychosomatic Involvement in Outdoor and Indoor Workers: A Preliminary and Explorative Survey of Motorway Toll Collectors and Office Employees.

The incidence of respiratory and cutaneous allergic disorders may be variable if we consider work activity. These disorders are reported in the current literature to have a relevant psychosomatic involvement. The aim of the study was to submit a survey on the self-reported occurrence of allergic respiratory and cutaneous diseases in outdoor and indoor workers to verify the onset or exacerbations of such pathologies, encourage surveillance, and suggest the need for further studies.

Spontaneous coronary artery dissection: an unpredictable event.

Spontaneous coronary artery dissection (SCAD) is an under-recognized cause of acute coronary syndrome that predominantly affects women in adulthood and is the leading cause of acute myocardial infarction in pregnancy. The most common clinical presentation is ST-segment elevation myocardial infarction (STEMI) or non-STEMI, followed by cardiogenic shock (∼2%), sudden cardiac death (0.8% in autopsy series), cardiac arrest, ventricular arrhythmias (∼5%), and Takotsubo syndrome.

Novel Biomarkers for Diagnosis and Monitoring of Immune Thrombocytopenia.

Lower-than-normal platelet counts are a hallmark of the acquired autoimmune illness known as immune thrombocytopenia, which can affect both adults and children. Immune thrombocytopenia patients' care has evolved significantly in recent years, but the disease's diagnosis has not, and it is still only clinically achievable with the elimination of other causes of thrombocytopenia. The lack of a valid biomarker or gold-standard diagnostic test, despite ongoing efforts to find one, adds to the high rate of disease misdiagnosis.

Age-Related Diseases and Foods Generating Chlorinative Stress.

Background: Aging is a slow and inexorable process affecting all life beings and is characterised by age-related worsening in adaptation to external changes. Several factors contribute to such a process, and oxidative stress due to external damages is one key player. Of particular interest is the oxidative stress generated from halogen compounds such as chloride.

Upper Limb Disorders in Catering Workers.

Background: The literature reports that catering workers are exposed to various occupational health hazardsé.

Objective: This study aims to assess a cohort of catering workers in relation to upper limb disorders, thus contributing to the quantification of work-related musculoskeletal disorders in this occupational sector.

Methods: Here, 500 employees, of which 130 were males and 370 were females, with an overall mean age of 50.

Assessing the Impact of Work Activities on the Physiological Load in a Sample of Loggers in Sicily (Italy).

Occupational logging activities expose workers to a wide range of risk factors, such as lifting heavy loads, prolonged, awkward positioning of the lower back, repetitive movements, and insufficient work pauses. Body posture has an important impact on the level of physiological load. The present study involved a group of 40 loggers in the province of Enna (Sicily, Italy) with the aim of defining the impact of logging activities on the workers' physiological strain during the three primary work tasks of felling, delimbing, and bucking.

Occupational hand and wrist disorders among forestry workers: An exposed-control study to investigate preventive strategies.

Background: In the arboriculture sector, some activities are still manually performed by forestry workers, which result consequently exposed to a high risk of developing muscle skeletal disorders. The Italian Compensation Authority reported an increase of work-related tendinopathies and carpal tunnel syndrome in loggers, but screening protocols are not available yet.

Objectives: The objectives were: a) to evaluate the prevalence of tendinopathies and carpal tunnel syndrome in a sample of loggers and b) identify a sound screening approach.

Processionary caterpillar reactions in Southern Italy forestry workers: description of three cases.

Background: Processionary caterpillar (PC), also named Thaumatopea pityocampa, has been reported to cause hypersensitivity reactions after contact with a toxin contained in hair-like bristles which cover this insect. Occupational exposure to PC is underestimated in outdoor workers and especially in forestry workers (FW) and is globally diffusing because of rising temperatures.

Cases Presentation: We present the first three cases of FW from Sicily, a Southern Italy (SI) region, which reported hypersensitivity reactions due to exposure to PC infested trees.

Hand-Wrist Disorders in Chainsaw Operators: A Follow-Up Study in a Group of Italian Loggers.

Despite the mechanization process implemented in arboriculture, logging tasks are still manually performed by chainsaw operators, which therefore are exposed to the risk of developing hand-wrist musculoskeletal disorders. Our research aimed to: (a) define whether the slight changes observed in 2017 showed an evolution to overt diseases; (b) study some risk determinants for these diseases such as age, working experience, and performing a secondary job. We recruited in a two-year follow-up study, 38 male forestry workers performing logging tasks employed in the Sicilian Forestry Department located in Enna.

Formaldehyde Exposure and Acute Myeloid Leukemia: A Review of the Literature.

The aim of the present study was to evaluate associations between cumulative and peak formaldehyde exposure and occurrence of acute myeloid leukemia. A comprehensive search was performed using the PubMed and Embase databases. We included studies presenting information about the role of formaldehyde in leukemic occurrence and mortality risk.

Equilibrium disorders in workers exposed to mixed solvents.

. Organic solvents cause diseases of the vestibular system. However, little is known regarding the correlation between vestibular damage and exposure to organic solvents below threshold limit values.

Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy.

Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance FAMMM susceptibility genes, cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), to 92 consecutive, unrelated patients with FAMMM. Age at diagnosis and number of PCMs were obtained from medical records; the number of PCMs and affected relatives were recorded for each family.

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

Background: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.

Occupational exposure to anaesthetic gases and high-frequency audiometry.

Objectives: Occupational exposure to anaestethic gases has been suggested to induce auditory damages. The aim of this study is to investigate high-frequency audiometric responses in subjects exposed to anaesthetic gases, in order to highlight the possible effects on auditory system.

Methods: The study was performed on a sample of 30 medical specialists of Messina University Anaesthesia and Intensive care.

Interleukin-10 involvement in exposure to low dose of benzene.

Objective: To establish if serum levels of interleukin-10 (IL-10) in subjects exposed to benzene are connected with age, working years, and employment age.

Methods: We evaluated serum levels of IL-10 in 51 employees working in oil refinery (group A) and in 16 office workers who resided in the same area (group B).

Results: There was no statistically significant difference between serum concentrations of IL-10 in groups A and B.

Neurocognitive effects in welders exposed to aluminium.

Objectives: Various authors who studied the effects of aluminium (Al) exposure on the neurocognitive system in the last 30 years have reached different and often contradictory conclusions. The aim of this study is to help clarify the effects that the metal causes on cognitive ability in a group of naval welders exposed to Al.

Methods: The study was performed on a sample of 86 male Al welders in a shipyard in Messina.

Serum levels of copper, selenium and manganese in forestry workers testing IgG positive for Brucella, Borrelia, and Rickettsia.

The aim of this study is to measure the alterations in the trace levels of serum copper (Cu), selenium (Se), and manganese (Mn) in forestry workers testing immunoglobulin G (IgG)-positive for Brucella, Borrelia, and Rickettsia. The study was conducted on a sample of 758 subjects (560 male and 198 female). All the subjects underwent medical examinations, which investigated particularly the presence of clinical signs compatible with zoonoses, and routine blood tests from venous blood sample, which tested previous immunisation versus cited microorganisms and serum concentration of Cu, Se, and Mn.

[Genetic markers of individual susceptibility and oxidative stress in subjects exposed to low dose of benzene. Preliminary data].

In the present study we used AOPPs and AGE as early markers of oxidative stress in refinery oil workers. In addition we evaluated whether a genetically determined reduction in the ability to detoxify electrophilic compounds, such as that expected among individuals with glutathione S-transferase (GST) null genotypes might influence the levels of AOPPs thus increasing toxicity. The study was performed on 25 oil refinery workers and in 18 age-matched control subjects.

[The list of the occupational disease and medical surveillance: the function of preventive medicine doctor].

The recent revision of tables of occupational diseases according to the article 3 and 211 of TU 1124/65 is helpful to working physician. This revision established the necessity of explain the link between the causative agent and disease and inserted the disease caused by biomechanics overload of upper limbs. The previous absence of these disease was in contrast to the duty of declaration according to the article 139 of TU 1124/65.

[Malignant pleuric mesothelioma in Sicily. Epidemiologic observations during the time 1998-2005].

Pleural malign mesothelioma is the only one to which we can straight attribute to an exposition, in professional and ambient ambit, to a good identified agent and, precisely, to the fibres of asbestos. Objective of our work has been to verify the incidence of the pleural malign mesothelioma in Sicily and in particular in the Messina's area, during the period 1988-2005. We have examined the epidemiologic data of the period 1988-1997 and 1998-2005 through the consultation of the Mesothelioma Sicilian Register; Mesothelioma Italian Register and of the available documentation in the Health Superior Institute.