Medicina
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Epidural hematomas (EDHs) and subdural hematomas (SDHs), or so-called extra-axial bleedings, are common clinical entities after a traumatic brain injury (TBI). A forensic pathologist often analyzes cases of traumatic EDHs or SDHs due to road accidents, suicides, homicides, assaults, domestic or on-the-job accidents, and even in a medical responsibility scenario. ⋯ We mainly focused on the data from the last 15 years, and considered the most updated protocols and diagnostic-therapeutic tools. This study reviews the epidemiology, outcome, and dating of extra-axial hematomas in the adult population; studies on the controversial interdural hematoma are also included.
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Background and Objectives: The asymmetrical vertebral artery (VA) flow and diameter are common findings, which can result in an asymmetrical blood flow in the basilar artery (BA), leading to bending of the artery over time. This study investigated whether the variation of the different vertebrobasilar morphological indices that influence flow characteristics might be inherited. Materials and Methods: We analyzed 200 cerebral magnetic resonance imaging (MRI) scans of healthy Caucasian twins (100 pairs) who underwent time-of-flight MRI. ⋯ A moderate heritability was found for the BA length (A: 63%; 95% CI: 45.7-75.2%; E: 37%; 95% CI: 24.8-54.3%) and volume (A: 60.1%; 95% CI: 42.4-73.2%; E: 39.9%; 95% CI: 26.8-57.6%), while the torsion of both arteries showed no heritability and were only influenced by the unshared environment. Conclusions: The length and volume of the BA show a moderate genetical influence. However, most of the measured morphological indices were influenced by shared and unshared factors, which highlight the role of the ever-changing hemodynamic influences shaping the geometry of the vertebrobasilar system.
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Background and objectives: Chronic obstructive pulmonary disease (COPD) is responsible for 5.3% of deaths worldwide and constitutes the third most common cause of death. The deaths from this cause occur over 10times more often in smokers than in non-smokers. Fortunately, for nearly 30 years, the proportion of people smoking tobacco in Poland has been decreasing. ⋯ With increasing age, the dynamics of mortality reduction decreased. Conclusions: The study showed a steady downward trend in premature mortality due to chronic obstructive pulmonary disease in Poland in both genders. The reduction in mortality was at a high level, despite the lower mortality due to this cause than in other European countries.
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Background and Objectives: Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. Materials and Methods: In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Results: Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. ⋯ Conclusions: Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.
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Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. ⋯ In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.