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The present case-report empathizes the usefulness of post-mortem computed tomography (PMCT) in the detection of live birth signs in a baby found dead, comparing the results with standard autoptic, histologic and immunohistochemical examinations.The report describes the case of a new-born who was thrown out on the footpath from a window of the fifth floor according to the investigative police, whilst the mother has hidden herself immediately after childbirth.PMCT showed diffusely aerated lung parenchyma with signs of severe lung distress, air in the airways with no fluid inside, and air in the upper gastro-intestinal tract, in absence any resuscitation manoeuvres performed on the baby at delivery. PMCT underlined multiple fractures of the skull with degeneration of cerebral parenchyma.All these findings were confirmed by conventional autopsy and histological and immunohistochemical examinations, clinching the usefulness of PMCT in differentiating live births from stillbirths.(c) 2023 Elsevier B.V. All rights reserved.

Neuroblastoma is one of the most common neonatal tumors. It involves children in early infancy and originates from neural crest cells of the adrenal gland medulla or sympathetic glia. We report an unusual case of congenital poorly differentiated neuroblastoma with multiple metastases in the brain and cerebellum. The biophysical profile showed a prominent polyhydramnios at 25.3 weeks of gestation; meantime, the mother was diagnosed with gestational diabetes. The mass was detected during the third ultrasonographic examination at 31.4 weeks of gestation. The fetus lived only one day after birth and the postmortem examinations were performed subsequently. An autopsy was performed both to understand the causes of death and to identify any profiles of professional responsibility. The histological examination confirmed the diagnosis: a neoplasm arising from the lower right limb and pelvis

Introduction: Surgical approaches to treat patients with abnormal pro-inflammatory parameters remain controversial, and the debate on the correlation between hematological parameter alteration in cardiac implantable electronic device (CIED) infection and the increase in mortality continues.Methods: We performed a systematic review using the PubMed, Scopus, and Cochrane Library databases. Twenty-two articles from May 2007 to April 2020 were selected and divided according to the following topics: prevalence of microbes in patients with CIED infection; characteristics of patients with CIED infection; comparison between patients who underwent and did not undergo replantation after device extraction; and correlation between alteration of hematological parameters and poor prognosis analysis.Results: Epidemiological analysis confirmed high prevalence of male sex, staphylococcal infection, and coagulase-negative staphylococci (CoNS). The most common comorbidity was heart failure. Complete removal of CIED and antimicrobial therapy combination are the gold standard. CIED replacement was associated with higher survival. High preoperative white blood cell count and C-reactive protein levels increased the risk of right ventricular failure (RVF) development. Increased red blood cell distribution width (RDW) value or decreased platelet count was correlated with poor prognosis. No correlation was noted between preoperative leukocytosis and CIED infection.Discussion: A relevant correlation between leukocytosis and RVF was observed. Heart failure may be related to high RDW values and decreased platelet count. Data on the correlation between hematological parameter alteration and poor prognosis are missing in many studies because of delayed implantation in patients showing signs of infection.

R2* cardiac magnetic resonance (CMR) allows the non-invasive measurement of myocardial iron. We calibrated cardiac R2* values against myocardial tissue–measured iron concentration by using a segmental approach and we assessed the iron distribution. Five hearts of thalassemia patients were donated after death/transplantation to the CoreLab of the Myocardial Iron Overload in Thalassemia Network. A multislice multiecho R2* approach was adopted. After CMR, used as guidance, the heart was cut in three short-axis slices and each slice was cut into different equiangular segments according to AHA segmentation and differentiated into endocardial and epicardial layers. Tissue iron concentration was measured by atomic absorption spectrometer technique. Fifty-five samples were used since only for two hearts all the 16 samples were analyzed. Mean iron concentration was 4.71 ± 4.67 mg/g dw. Segmental iron levels ranged from 0.24 to 13.78 mg/g dw. The coefficient of variability of iron for myocardial segments ranged from 8.08 to 24.54% (mean 13.49 ± 6.93%). Iron concentration was significantly higher in the epicardial than in the endocardial layer (5.99 ± 6.01 vs 4.84 ± 4.87 mg/g dw; p = 0.042). Four different circumferential regions (anterior, septal, inferior, and lateral) were defined. A circumferential heterogeneity was noted, with more iron in the anterior region, followed by the inferior region. The direct nonlinear fitting of R2* and [Fe] data led to the calibration curve: [Fe] = 0.0022 ∙ (R2*-ROI)1.462 (R-square = 0.956). Our data further validate R2* CMR using a segmental approach as a sensitive and early technique for quantifying iron distribution in the current clinical practice. • Calibration in humans for cardiovascular magnetic resonance R2* against myocardial iron concentration was provided. • A circumferential heterogeneity in cardiac iron distribution was detected: more iron was observed in the anterior region, followed by the inferior region. This finding corroborates the use of a segmental T2* CMR approach in the clinical practice to detect a heterogeneous iron distribution. • The comparison between the cardiac T2* values obtained with the region-based and the pixel-wise approaches showed a significant correlation and no significant difference but, in presence of significant iron load, the region-based approach resulted in significantly higher T2* values.

The gold standard for the diagnosis of foetal death is known to be the autopsy examination, which is sometimes supplemented by chromosomal and/or genetic studies. Nevertheless, autopsy rates are continuously declining, due to multifactorial and complex reasons, even anatomical, social and psychological ones, thus impacting the rate of radiological post-mortem foetal examinations.

We reported two cases of early structural valve degeneration (SVD) with Mitroflow prosthesis in aortic position in patients above the age of 65 years. Microscopic aspects have been analysed to investigate the intrinsic mechanism of SVD. New techniques to improve the structure and the preservation of this prosthesis are needed in order to reduce potential dangerous early complications.

We here report a case involving a 21-year-old female, found dead in a central square of a city in the south of Italy. Initial evidences and circumstances were suggestive of a death associated with a sexual assault. Two peripheral blood and two vitreous humor samples were collected for the purpose of gamma-hydroxybutyric acid (GHB) testing from the dead body at two different post-mortem intervals (PMIs): approximately 2 (t0) and 36 (t1) hours. The obtained results showed that, between t0 and t1, there was an increase of GHB concentrations in peripheral blood and vitreous humor of 66.3% and 8.1%, respectively. This case was the first evidence of GHB post mortem production in a dead body and not in vitro, showing that vitreous humor is less affected than peripheral blood in GHB post-mortem production. The value detected at t1 in peripheral blood (53.4µg/mL) exceeded the proposed cut-off and if interpreted alone would have led to erroneous conclusions. This was not the case of vitreous humor GHB, whose post-mortem increase was minimal and it allowed to exclude a GHB exposure. Only after a broad forensic investigation including a complete autopsy, serological, histological, toxicological and haematology analyses, a diagnosis of idiopathic hypereosinophilic syndrome, a myeloproliferative disorder characterized by persistent eosinophilia associated with damage to multiple organs, was made and the cause of death was due to a pulmonary eosinophilic vasculitis responsible for an acute respiratory failure.

Background: The jejunal mucosa is the major site involved in celiac disease, but modifications have also been found in the gastric, rectal and esophageal mucosa. Few studies have focused on the histomorphological features of the oral mucosa in celiac disease patients. Our objectives were: (i) to assess the presence, quality and intensity of lymphocytic infiltrate in clinically healthy oral mucosa and its relation to celiac disease severity (villous height to crypt depth ratio); and (ii) to detect any other histological features connected to celiac disease. Methods: Twenty-one untreated celiac disease patients (age range 13–68 years) with clinically healthy oral mucosa were enrolled and compared with 14 controls. Intestinal and oral biopsies were carried out and specimens were evaluated after staining with hematoxylin and eosin. Results: Intra-epithelial lymphocyte B and T infiltrates of the oral mucosa were found to be similar in both groups; likewise, intensity of the lymphocytic infiltrate in the lamina propria was similar in both groups and was not related to intestinal damage; important signs of spongiosis were found to be more significantly present in celiac disease patients compared with controls (P = 0.0002). Conclusions: Our study showed that the healthy oral mucosa of untreated patients does not reflect the intestinal damage by celiac disease, but it is unexpectedly affected by spongiosis, as being detected for the first time in the literature. This latter feature could be related to gliadin ingestion and could contribute to explain the higher susceptibility of celiac disease patients to suffering from oral mucosa lesions.

Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that primarily affects the coronary artery (CA) and presents in childhood. The characteristic coronary arterial lesion is an aneurysm, which may lead to thrombosis, dilatation, stenosis, and occlusion. Such an aneurysm is typically calcified and generally develops five or more years after the onset of acute KD. It becomes more noticeable after ten years. KD is sometimes difficult to diagnose because of the limited clinical features, especially in infants younger than 6 months old, where the clinical presentations often do not fulfill the diagnostic criteria for KD. We report a case of Incomplete Kawasaki Disease (IKD) causing unexpected death in infants. A seven-month-old male baby, apparently well nourished and without fever or exanthema that was unexpectedly found agonal in his bed by his parents. He died in an emergency room a few hours later in spite of aggressive resuscitation efforts. Postmortem Magnetic Resonance Images were obtained during the autopsy, with evidence of an occlusive thrombus in left and right coronary artery aneurysms. Laboratory findings were consistent with IKD. The crucial role of postmortem imaging is discussed here in order to improve diagnosis tools for preventable events.

Summary Background Antiendomysial (EmA) and antitransglutaminase (anti-tTG) antibodies are the most specific indirect marker of coeliac disease (CD). It is not known whether the oral mucosa of patients with CD is able to produce these antibodies or not. Aims To evaluate the ability of the oral mucosa of patients with CD to produce antibodies in an in vitro culture system. Patients and methods Twenty-eight patients with new diagnosis of CD (15 adults and 13 children) and 14 adult subjects with other diseases (controls) were studied. All underwent oral mucosa biopsy and subsequent EmA and anti-tTG assays on the mucosa culture medium. Results Sensitivity and specificity of EmA and anti-tTG assayed in the oral mucosa culture medium for CD diagnosis were 54% and 100% and 57% and 100%, respectively. The CD clinical presentation, such as the presence of oral mucosa lesions, did not influence the results of the EmA and anti-tTG assays in the oral mucosa culture medium. There was an association between positivity of antibodies and greater severity of the oral mucosa lymphocyte infiltration. Conclusion This study demonstrates that the oral mucosa contributes to EmA and anti-tTG production in untreated patients with CD.

This paper outlines the history of the Cabinet of Pathological Anathomy at the University of Palermo, describes rapidly its current status and analyzes the composition of its displays in 1859. It aims to highlight the analogies with other collections of a similar kind and to pinpoint potential actions to endorse and develop this important scientific asset.

Summary Background Lichen planus (LP) is a mucocutaneous inflammatory dermatosis that frequently involves the oral and genital mucosae. Patients with LP affecting these sites are often seen by oral medicine specialists or gynaecologists who work in isolation and depend heavily on histopathologists to help them in confirming the diagnosis. There are few studies in the literature combining the experiences of these specialists who share the care of patients with both oral and genital LP. Objectives To estimate the prevalence of vulval LP (VLP) in a cohort of patients with histologically confirmed oral LP (OLP). Methods The study group consisted of 42 women histologically diagnosed with OLP. The mean age was 60·5 years (range 27–81). They underwent genital examination, colposcopy and vulvoscopy. For the histological confirmation of clinical VLP biopsies were performed whenever a clinical lesion was found. Oral and genital biopsy specimens were processed through histological and immunohistochemical staining. Histological diagnoses of LP were made according to the modified World Health Organization histopathological criteria proposed by van der Meij and van der Waal for the diagnosis of OLP, and extended to VLP. Patients with clinical evidence, but without the histological confirmation of OLP and VLP, were excluded from the study group. Results Thirty-two vulval and one vaginal biopsy specimens were obtained. Histological diagnoses were confirmed in 24 of 32 (75%) patients who underwent a vulval biopsy: these represent 57% (24 of 42) of the study group. Of the 12 patients free of symptoms such as itching, burning and dyspareunia, but with clinical vulval lesions, 11 (92%) had histological confirmation of VLP. Vulval lichen sclerosus was ascertained in five of 32 (16%) cases. Conclusions This study showed a 57% prevalence of VLP in selected patients with OLP. The high prevalence of VLP of 92% in the women who were free of vulval symptoms confirmed the usefulness of this careful integrated approach.

BACKGROUND: Chronic constipation in children can be caused by cows' milk intolerance (CMI), but its pathogenesis is unknown. AIMS: To evaluate the histology and manometry pattern in patients with food intolerance-related constipation. PATIENTS AND METHODS: Thirty-six consecutive children with chronic constipation were enrolled. All underwent an elimination diet and successive double-blind food challenge. All underwent rectal biopsy and anorectal manometry. RESULTS: A total of 14 patients were found to be suffering from CMI and three from multiple food intolerance. They had a normal stool frequency on elimination diet, whereas constipation recurred on food challenge. The patients with food intolerance showed a significantly higher frequency of erosions of the mucosa, and the number of intra-epithelial lymphocytes and eosinophils. The rectal mucous gel layer showed that the food-intolerant patients had a significantly lower thickness of mucus than the other subjects studied. Manometry showed a higher anal sphincter resting pressure and a lower critical volume in food intolerance patients than in the others suffering from constipation unrelated to food intolerance. Both histology and manometry abnormalities disappeared on the elimination diet. CONCLUSIONS: Food intolerance-related constipation is characterized by proctitis. Increased anal resting pressure and a reduced mucous gel layer can be considered to be contributory factors in the pathogenesis of constipation.

OBJECTIVE: Chronic constipation in children can be linked to cow''s milk intolerance (CMI) but the existence of a food intolerance-dependent proctitis is still debated. The aim of this study was to evaluate the histologic data in patients with food intolerance-related constipation. MATERIAL AND METHODS: Fifty-two consecutive patients (22 M, median age 4 years) with chronic constipation unresponsive to common treatment were enrolled. All patients were put on a cow''s milk-free diet for 4 weeks and those uncured on this diet underwent a subsequent 4-week period of oligoantigenic diet. In the patients cured on elimination diet, a subsequent double-blind food challenge was performed to confirm the diagnosis of food intolerance. At entry to the study, routine hemato-chemical and immunologic assays, rectoscopy, and histologic study of the rectal mucosa were performed. In the patients cured on elimination diet, rectal histology was repeated when they were cured. RESULTS: Twenty-four patients were found to be suffering from CMI and 6 from multiple food intolerance. These patients had a normal stool frequency on elimination diet, while constipation reappeared on food challenge. The condition of the remaining 22 patients did not improve on elimination diet. The patients with food intolerance showed a significantly higher frequency of erosions of the mucosa, number of intraepithelial lymphocytes and eosinophils, and number of eosinophils in the lamina propria. Study of the rectal mucus gel layer showed that the food-intolerant patients had a significantly lower thickness than the other subjects studied. In the food intolerant patients, histologic abnormalities disappeared on elimination diet, when the patients were well. CONCLUSIONS: Food intolerance-related constipation is characterized by proctitis with eosinophil infiltrate of the rectal mucosa. A reduced mucus gel layer can be considered a contributory factor in the pathogenesis of the constipation.

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally-related to the chromosomal aberration. In addition, the umbilico-portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus.

We report an unusual case of “arrhythmic” sudden cardiac death in a 3-year-old child who died of ischemic myocardial lesions as a result of intimal fibroplasia of the coronary arteries. Also affected were the aorta and its major branches, whereas renal and mesenteric arteries, celiac trunk, and systemic veins were normal. Histopathologic examination showed severe concentric thickening of intima because of a proliferation of spindle-shaped cells (mesenchymal cells) set in an abundant extracellular matrix. In some vascular segments the intima was densely fibrotic and hyalinized. No significant inflammation, foam cells, cholesterol clefts, or other evidence of atheroma were present. The intimal lesions did not involve the media and/or the adventitia. Immunohistochemical staining of intima showed the proliferating mesenchimal cells to be myofibroblastic. Reactions for vimentin and smooth muscle actin were positive, while those for desmin, myosin, CD34, and Factor VIII were negative.

Noncompaction of the ventricular myocardium is a disease characterized by an increase of the ventricular trabecular meshwork caused by arrest of the normal endomyocardial morphogenesis (Figs. 1, 2, 3). In accordance with the normal human anatomy, the left ventricular wall is well compacted with a few thin trabeculae; on the contrary, the normal right ventricular wall is furrowed by many trabeculae (the trabecula of the marginal septum as well as other ones). For this reason, the term ‘‘noncompaction’’ usually refers to an exclusive or prevalent disease of the left ventricle [1–16]. Recently Song and Aragona et al. [1–3] reported two cases of isolated right-ventricular noncompaction. According to the data coming from scientific literature and from our own experience, in some patients noncompaction is biventricular [5, 6], and an increase of the right ventricular meshwork is often evident in such cases, even more so than on the left side. The main diagnostic criterion of noncompaction, that is, the only one that is accepted and recognized, is evaluation of the ratio between the spongiosus and the compact thickness of the ventricular wall, which must be [2 [6–16]. This ratio is easy to calculate for the left ventricle; on the contrary, it is more difficult to calculate for the right ventricle. Only one case of right-ventricular noncompaction has been reported in the literature [7, 8]. In our personal clinical experience, we have found that many cases of biventricular noncompaction are reported in the register of Italian Society of Cardiovascular Echocardiography. Recently two patients with an inexplicable dilatation of the right ventricle caught our attention: Both of them showed a more prominent trabecular meshwork on

Cardiac contusion, usually caused by blunt chest trauma, has been recognized with increased frequency over the past decades. Traffic accidents are the most frequent causes of cardiac contusion resulting from a direct blow to the chest. Myocardial contusion is difficult to diagnose; the clinical presentation varies greatly, ranging from a lack of symptoms to cardiogenic shock and arrhythmia. Although death is rare, cardiac contusion can be fatal. The authors report a case of death due to a cardiac conduction system injury from a blunt chest impact following a car accident. The autopsy showed no external signs of thoracic trauma, no evident rib or sternum fractures. A small sub-endocardial hemorrhage was found in the region of the atrioventricular node. Histological examination revealed an injury of the atrioventricular node and His’ bundle. The cause of the death was attributed to the arrhythmia induced by contusion of the cardiac conduction system.

Thoracic aorta shows with advancing age various changes and a progressive deterioration in structure and function. As a result, vascular remodeling (VR) and medial degeneration (MD) occur as pathological entities responsible principally for the sporadic TAA onset. Little is known about their genetic, molecular, and cellular mechanisms. Recent evidence is proposing the strong role of a chronic immune/inflammatory process in their evocation and progression. Thus, we evaluated the potential role of Toll like receptor- (TLR-) 4-mediated signaling pathway and its polymorphisms in sporadic TAA. Genetic, immunohistochemical, and biochemical analyses were assessed. Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR=14.4,P=0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor. In consistency with these data, a significant association was observed between their combined risk genotype and sporadic TAA. Cases bearing this risk genotype showed higher systemic inflammatory mediator levels, significant inflammatory/immune infiltrate, a typical MD phenotype, lower telomere length, and positive correlations with histopatological abnormalities, hypertension, smoking, and ageing. Thus, TLR4 pathway should seem to have a key role in sporadic TAA. It might represent a potential useful tool for preventing and monitoring sporadic TAA and developing personalized treatments.

The authors present a singular case of an iatrogenic right vertebral artery injury, involving a 67 year-old man, who reported a type II odontoid fracture (Anderson and D'Alonzo Classification) and posterior atlantoaxial dislocation following a road traffic accident. A small injury involving the right vertebral artery occurred as a consequence of transoral odontoidectomy and posterior cervical stabilization. It was caused by bone spicules of spinal origin and their presence was confirmed by the histological section of the right vertebral artery at the level of C1–C2. The case confirms how iatrogenic vertebral artery injuries during cervical spine surgery may be potentially lethal, especially where complications arise some days after surgery.

OBJECTIVES: Patients with chronic constipation due to food hypersensitivity (FH) had an elevated anal sphincter resting pressure. No studies have investigated a possible role of FH in anal fissures (AFs). We aimed to evaluate (1) the effectiveness of diet in curing AFs and to evaluate (2) the clinical effects of a double-blind placebo-controlled (DBPC) challenge, using cow's milk protein or wheat. METHODS: One hundred and sixty-one patients with AFs were randomized to receive a "true-elimination diet" or a "sham-elimination diet" for 8 weeks; both groups also received topical nifedipine and lidocaine. Sixty patients who were cured with the "true-elimination diet" underwent DBPC challenge in which cow's milk and wheat were used. RESULTS: At the end of the study, 69% of the "true-diet group" and 45% of the "sham-diet group" showed complete healing of AFs (P

Whipple Disease is a rare chronic multi-systemic disease caused by the ubiquitous environmental Gram-positive bacterium Tropheryma whipplei . It can be fatal if untreated. Here we describe the fatal outcome in a 27-year-old Caucasian female patient with a three-month history of persistent fever, anemia, weight loss and diarrhea. The final resolution of the diagnostic process was only reached after the patient’s death thanks to autopsy. The case depicted is a classic Whipple Disease histologically characterized by digestive involvement based on positive periodic acid-Schiff (PAS) staining and immunohistochemical analysis for T. whipplei and systemic involvement (pericarditis, brain lipid storage, renal fat embolism). The case reported here is of interest because the patient was a woman and also young, characteristics which do not meet the classical epidemiological features of this elusive and troubling disease.

Type A aortic dissection (TAAD) is a severe cardiovascular disease with high mortality rates. Current evidence suggests inflammation as the main mechanism of its complex pathophysiology. Accordingly, in this study the eventual presence of inflammatory cells in aorta specimens and any contribution of these cells in both apoptosis and metalloproteinase levels were assessed. The potential relationship between plasma inflammatory molecules and TAAD was also detected. In addition, implication in TAAD susceptibility of ten common and functional single nucleotide polymorphisms (SNP)s of six candidate genes (CCR5, TLR4, ACE, eNOs, MMP-9 and −2) was determined. Thus, histo-pathological and immunoistochemical aorta examination, TUNEL testing, genotyping of ten SNPs were performed. Levels of plasma inflammatory molecules were also determined using ELISA technique. A significant inflammatory infiltrate was observed in the examined aortas. Consistent with these data, significantly higher plasma levels of systemic inflammatory mediators characterized the cases. In addition, a high risk genotype significantly associated with TAAD susceptibility was identified. Thus, inflammation producing MMPs, cytokines and death mediators seem to be the shared pathological mechanism for TAAD in the population examined.

OBJECTIVES: The involvement of different factors in the onset of thoracic aortic aneurysm (TAA) in patients with a bicuspid aortic valve (BAV) vs those with a tricuspid aortic valve (TAV) is well recognized. However, the molecular, genetic and cellular mechanisms driving TAA remain unclear. The aim of this study was to identify the different mechanisms involved in TAA development in patients with BAV vs TAV. METHODS: Aorta specimens and DNA samples were collected from 24 BAV (18 men and 6 women; mean age: 54.2 ± 14.39 years) and 110 TAV (79 men and 31 women, mean age: 66 ± 9.8 years) patients. A control group of 128 subjects (61 men and 67 woman, mean age: 61.1 ± 5.8 years) was also enrolled. Histopathological and immunoistochemical analyses were performed, as well as genotyping of 10 polymorphisms. RESULTS: In BAV-associated ascending aortas, significant severe plurifocal apoptosis of smooth muscle cells and matrix metalloproteinase- 9 (MMP-9) amounts were detected. In contrast, TAV-associated ascending aortas were characterized by a significant severity of elastic fragmentation, cystic medial necrosis, medial fibrosis and inflammation. In addition, in BAV cases, the −1562TMMP-9 and −735TMMP-2 alleles represent independent risk factors for TAA. The effects of these genotypes combined with hypertension and smoking in BAV cases result in an increase in both the apoptosis (P = 0.0001) and levels of MMP-9 (P = 0.001). In TAV cases, the D angiotensin-converting enzyme and +896A Toll-like receptor-4 alleles seem to be the predictive factors for TAA risk. They, combined with hypertension and age, significantly increase both the microscopic lesions and inflammation. CONCLUSIONS: Our data seem to suggest that TAA in BAV and TAV patients arises from different molecular, cellular and genetic mechanisms. They might help to identify the potential molecular and genetic biomarkers that are useful to detect BAV subjects at high TAA risk, to monitor and treat them differently from those with TAV, with approaches such as the complete removal of the ascending aorta, including the aortic root with or without dilatation.

Objectives: We aimed to identify a phenotype of ascending thoracic aortic aneurysm (TAA), which, more than others, evolves into type A dissection (TAD). Methods: Aortic specimens were obtained from patients undergoing surgical repair of TAA and TAD (108 and 26, respectively). Histopathological and immunohistochemical analyses were performed by using adequate tissue specimens, appropriate techniques and criteria. Results: We identified the three following TAA phenotypes: phenotype I (cystic medial degeneration balanced by a substitutive fibrosis, in absence of medial apoptosis and with a faint collagenase concentration), phenotype II (cystic medial degeneration of higher grade, respectively, than substitutive fibrosis, with focal medial apoptosis and moderate collagenase concentration), and phenotype III (elevated cystic medial degeneration without substitutive fibrosis, with plurifocal medial apoptosis and severe collagenase concentration). The same medial degenerative lesions of TAA phenotype III were observed in TAD tissue samples. Conclusions: The morphological identity of medial lesions observed in both the TAA phenotype III and in TAD aortas might be assumed to be the precursor—and consequently the optimal biomarker— of dissection, independently of aneurysm diameter or valvular disorder. Identification of genetic risk factors, useful both in diagnostics and in developing more targeted treatment for individual patients, might also be needed.

OBJECTIVES: Aneurysm diameter and growing rate does not represent a definite parameter for operation in bicuspid aortic valve (BAV), ascending aortic aneurysm and normal root patients. Thus, we investigated histological and immunohistochemical aspects of different segments of ascending aorta (precisely, aortic root without dilatation, aneurysmatic tubular portion, dissected ascending aorta) and genetic features of patients with BAV and ascending aorta complication (aneurysm or dissection). METHODS: Aorta tissue samples of 24 BAV patients were examined. The patients comprised of 18 men and 6 women; the mean age was 54.2 ± 14.3 years. All patients underwent composite aortic root replacement (button Bentall operation). Multiple histological sections were prepared from each aortic specimen. The evaluated features included elastic fibre fragmentation, cystic medial change, smooth muscle cell necrosis, medial fibrosis, and the markers of medial apoptosis and the metalloproteinases. Furthermore, genetic risk factors were also investigated. RESULTS: The same medial degenerative lesions in tissue samples of different aorta segments (precisely of aortic root without dilatation, and aneurysmatic ascending aorta portion) were observed. More significant associations between single nucleotide polymorphisms (�786T/C endothelial nitric oxide synthase enzyme, D/I angiotensin-converting enzyme, �1562C/T metalloproteinase-9 and �735C/T metalloproteinase-2) and aneurysm risk were detected in BAV patients than in controls. CONCLUSIONS: Based on our histological and genetic data, we underline that a surgical approach in patients with BAV, ascending aortic aneurysm and normal root, should consider not only the diameter of the aneurysmatic aortic portion but also the histological features of the whole ascending aorta and the genetic risk profile.

This article describe's a case of atypical Kawasaki disease (AKD) with lack of typical clinical signs and rapid fatal course in a 2-month-old infant, who 1 week before hospitalization demonstrated rhinitis, coughing without fever, and later conjunctival hyperemia and allergic exanthema on chest and arms. On admittance, labwork highlighted the following: leukocytosis, thrombocytosis, elevated sedimentation rate, and positive C-reactive protein. General conditions remained mediocre for 7 days until sudden death occurred. The autopsy confirmed death caused by cardiac tamponade caused by a ruptured inflammated aneurysm of the left anterior descending coronary artery. We believe that the currently accepted clinical diagnostics criteria for KD in infants 2 years of age or younger can cause missed in vita diagnosis of AKD. For such, any typical clinical sign of KD whenever associated with thrombocytosis and elevated indices of phlogosis, should led to suspicion of KD and permit cardiovascular examination, and thus early treatment.

Oral lichen planus (OLP) is an autoimmune disease with an inflammatory pathogenesis. The angiogenetic phenomenon is a mechanism at the base of the pathogenesis of chronic inflammatory processes. The aim of this research is to evaluate the angiogenetic phenomenon, comparing an in vitro method with an in vivo one. Thirty OLP patients and 30 healthy subjects were enrolled in the study. Immunohistochemical analysis of the vascular-endothelial growth factor (VEGF) and vascular-endothelial adhesion molecules were carried out by the means of primary antibodies and anti-CD34, anti-VEGF, anti-CD106 antigen (VCAM-1) and anti-CD54 antigen (ICAM-1). Capillary density and others capillaroscopic parameters were tested in vivo using oral videocapillaroscopy. The results reveal the presence of a significant angiogenesis in OLP patients through the immunoexpression of VEGF, CD34, CD106 and CD54 (p

We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with "telephone-receiver" femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.

Eosinophilic granuloma (EG) is a clinical variant of the Langerhans cell histiocytosis (LCH) characterized by unifocal or multifocal bone lesions which predominantly affects children, adolescents, and young adults.A case is reported of a 13-year-old Caucasian boy who presented unifocal EG in the mandible as the first clinic manifestation. Radiographic examination and skeletal scintigraphy revealed a further localization with an osteolytic lesion in the right femur. The therapeutic protocol used for the mandibular lesion included causal periodontal therapy, extraction of the compromised teeth, alveolar curettage, and intralesional injections of corticosteroids, in correspondence with femoral and mandibular bone lesions.Early diagnosis of LCH is considered an important factor which can improve the patient's prognosis and quality of life and also the cost-effectiveness of therapy. Dentists could play a fundamental role in the diagnosis and management of EG. The aim of the treatment is to eradicate EG lesions and provide adequate oral rehabilitation after the tooth loss. A careful multidisciplinary follow-up program is mandatory to identify any signs of local recurrence or dissemination.

Primary tumors of the heart in infants and children are rare. The types of heart tumors in pediatric age groups are generally different from those in adults. Cardiac myxoma is by far the most common tumor in adults, but in infants and adolescents the prevalent tumor of the heart is rhabdomyoma. Among benign cardiac tumors, cardiac hemangiomas are rare and often diagnosed post-mortem due to the lack of specific clinical symptoms and signs. We report a case of sudden death due to cardiac hemangioma in an apparently healthy 15-year-old adolescent. The autopsy revealed a cardiac hemangioma located at the apex of the heart; the histopathological examination showed the tumor was a mixed capillary and arteriolar hemangioma, a very rare type of primary tumor in adolescents.

Objective: Oral Lichen Planus (OLP) is a chronic inflammatory disease with an autoimmune inflammatory pathogenesis. The aim of the research is to compare the vascular endothelial growth factor (VEGF) and adhesion of molecules in the biopsy samples of patients affected by OLP, in order to research the presence of the angiogenetic phenomenon and to understand its pathogenetic mechanism. Materials and Methods: Thirty OLP patients and thirty healthy subjects were enrolled in a study. The immunohistochemical analysis of the VEGF and vascularendothelial adhesion molecules was carried out by means of primary antibodies and anti-CD34, anti-VEGF, antiCD106 antigen (VCAM-1) and anti-CD54 antigen (ICAM-1). The statistical significance of the differences was checked with the Mann-Whitney test (MW test). The level of significance was set to P

Sjögren's syndrome is a chronic inflammatory disease. The detection of chronic inflammatory infiltrates containing50 lymphocytes (lymphocytic focus) per 4 mm2 tissue in minor salivary gland biopsies is a diagnostic parameter of the disease. The aim of the study was to examine if an increase in the tissue area of a single minor labial salivary gland biopsy through serial histological sections in patients affected by primary Sjögren's syndrome could facilitate the detection of the diagnostic focus score (grades1 or2).We observed 24 labial salivary gland biopsies from patients affected by primary Sjögren's syndrome, diagnosed according to the clinical-laboratory criteria proposed by the American-European Consensus Group. The analysis was carried out on sections (n= 72) obtained at three different levels at 200 micrometers from one another. The serial sections regarding the 3 levels were reviewed by the same oral pathologist, who detected both the total number of foci, and their surface, calculating a cumulative focus score.No significant correlation was found between the number of lobules per histological section and the focus score (Pearson correlation 0.363, p= 0.01). No significant variation in focus score distribution was identified in the three serial histological levels at 200 micrometers from one another. From the comparison between the number of lobules observed and the focus score grade, no direct proportionality between the amount of parenchyma analyzed and the focus score was found.The focus score remained unchanged in the serial sections at different depths.

Kawasaki disease (KD) was first described in 1967 by Kawasaki, who defined it as "mucocutaneous lymph node syndrome". KD is an acute systemic vasculitis, which mainly involves medium calibre arteries; its origin is unknown, and it is observed in children under the age of 5, especially in their third year. The principal presentations of KD include fever, bilateral nonexudative conjunctivitis, erythema of the lips and oral mucosa, changes in the extremities, rash, and cervical lymphadenopathy. Within KD, oral mucositis - represented by diffuse mucous membrane erythema, lip and tongue reddening and lingual papillae hypertrophy with subsequent development of strawberry tongue - can occur both in the acute stage of the disease (0-9 days), and in the convalescence stage (25 days) as a consequence of the pharmacological treatment. KD vascular lesions are defined as systemic vasculitis instead of systemic arteritis. This study analyzed the anatomical-pathological substrata of oral mucositis in a baby affected by Kawasaki disease and suddenly deceased for cardiac tamponade caused by coronary aneurysm rupture (sudden cardiac death of a mechanical type).

Hemangiopericytoma (HPC) is a mesenchymal tumour that may be benign, malignant, or occur in an intermediate form. We report an unusual case of hemangiopericytoma located in the buccal mucosal region. The histopathologic features showed increased cellularity, necrosis, hemorrhage, low proliferation index, and 4 or less mitotic figures per 10 high-power fields. Since this histological pattern suggests an intermediate form characterized by unpredictable clinical behavior, life-long follow-up is essential. In this patient no recurrences or distant metastases were evident at 10-yr follow-up.

Coronary anomalous origin from the wrong aortic sinus has been thought to be a risk factor for ischemia because of acute takeoff from the aorta and flow between the aorta and the pulmonary artery.1–4 A 30-year-old man suddenly died within an hour of waking. His clinical history revealed no evidence of any disease, and the postmortem toxicological examination was negative. Autopsy ruled out violent or natural noncardiac causes …

The main aims of this cross-sectional study were: (i) to assess the frequency of genital (vulval) lichen planus (VLP) and vulval lichen sclerosus (VLS) in women affected with oral lichen planus (OLP), regardless of the genital symptoms reported; and (ii) to verify whether any demographic, clinical, or histological features of OLP are associated with a higher risk of vulvo-vaginal involvement. Fifty-five women, presenting OLP, consecutively underwent gynaecological examination and, if they demonstrated positive clinical signs of VLP, underwent biopsy. After a drop-out of 14 subjects, 31/41 (75.6%) were found to have signs of genital involvement, of which 13/31 (44.0%) were asymptomatic. Following genital biopsy, 27/31 (87.1%) had histologically confirmed VLP or VLS. Following both univariate and multivariate statistical analyses, no significant association was found between gynaecological concomitance and demographic, clinical, histological features of OLP. This unpredictably common genital involvement in females with OLP emphasizes the importance of routinely performing both oral and gynaecological examinations, to facilitate an early and correct therapeutic approach. © 2006 Acta Dermato-Venereologica.

The aim of our 10-year study was to test the effectiveness of topical therapy based on 0. 18% isotretinoin, comparing it with that most frequently used, i.e. at 0.05% concentration. Seventy patients with an established diagnosis of oral lichen planus were involved in the study. The patients were randomly divided into two groups, and the drug was administered topically at 0.05% and 0. 18% concentrations. The drug at the higher concentration, according to the same protocol, was administered to the patients who did not benefit from the therapy at the lower concentration. None of the cases of reticular lichen planus showed clinical or histological improvement. In contrast, the atrophic-erosive forms showed a significant improvement, both clinical and histological: in 26 patients (at 0.18% concentration) and in nine patients (at 0.05% concentration), the symptoms, as well as the erosions or ulcers observed, disappeared. The disappearance of dysplasic phenomena was observed at 0. 18% concentration. Topical application of the drug was accompanied by an increase in soreness and pain, as well as greater sensitivity to hot foods. However, these side effects were transitory, and considered acceptable by the patients. The proposed therapeutic protocol was effective towards highly active atrophic-erosive oral lichen planus with dysplasic phenomena, which is the form of the disease at higher risk of malignant evolution.

A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions.

Various studies have evaluated the therapeutic effectiveness of vitamin A derivatives in the treatment of oral leukoplakia (OL). Not all the studies have shown concordant results. The aim of our study, which has a 10-year follow-up, was to test the effectiveness of topical therapy based on 0.18% isotretinoin by comparing it with that most frequently used, i.e., at 0.05% concentration. Forty patients with an established diagnosis of OL were involved in the study. The patients were randomly divided into two groups and the drug was administered topically at 0.05% and 0.18% concentrations. The drug was applied twice a day for 3 consecutive months; then it was suspended for 1 month, and the biopsy sample was repeated for the histological follow-up. The higher concentration of the drug, according to the same protocol, was administered to patients who did not benefit from the lower concentration. The results showed a significant reduction in lesions (85%), with no documented topical or systemic adverse reactions at 0.18% concentration. A significant reduction of the aggressiveness of the disease and the disappearance of dysplastic phenomena were observed histologically. The proposed therapeutic protocol was effective toward highly active oral leukoplakia with dysplastic phenomena, and therefore at higher risk of malignant progression.

The authors describe a case of sudden cardiac death caused by the simultaneous multivessel rupture of unstable atherosclerotic plaques, triggered by a transmural inflammatory process (coronaritis). Male subject, 44 years old, apparently in good health until 1 hour before death, when he complained of worsening dyspnea. At autopsy, it was found that the heart weighed 486 g. Evaluation of the coronary arteries revealed the presence of atherosclerotic plaques resulting in a lumen critical stenosis of the left anterior descending artery (LAD), right coronary artery (RCA) and left circumflex artery, and acute occlusive thrombosis of the LAD and RCA. Transverse sections of the ventricular mass highlighted the presence of eccentric hypertrophy of the left ventricle associated with myocardiosclerosis of the posterior interventricular septum and of the posterior wall of the left ventricle. Histology revealed the presence of a coagulative myocytolysis ascribable to the free walls of the left ventricle, and a focus of lymphocytic-active myocarditis. All coronary arteries were sites of intima fibroatheromatous plaques complicated by rupture and thrombosis within the RCA and LAD and by a transmural infiltrate consisting of macrophages and T-lymphocytes associated with consensual medionecrosis and perineuritis. In conclusion, the present case report confirms the hypothesis that inflammation plays a key role in the onset of acute coronary syndromes as it promotes the formation of an unstable plaque as well as its rupture.

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally-related to the chromosomal aberration. In addition, the umbilico-portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus.

We report on a case of a gastric carcinoid of the sporadic type successfully treated by endoscopic electroresection. From January 1998 to October 2002, 1523 gastroscopies were performed in the Palermo University General Emergency Surgery and Organ Transplant Unit. In a 59-year-old man with a history of dyspepsia, a sessile polypoid gastric lesion was observed in the gastric corpus. Laboratory data were normal. The lesion was successfully treated by electroresection. Histological evaluation revealed an 8-mm-diameter well-differentiated neuroendocrine polypoid tumour infiltrating the muscularis mucosa. According to Rindi et al.'s classification, the polyp was a carcinoid of the sporadic type. A two-year follow-up consisting in gastroscopy every 6 months and evaluation of tumour markers and CT scans once a year has so far shown no recurrence. Surgical treatment is the therapy of choice for gastric carcinoids, but endoscopic resection may be a successful alternative in cases of carcinoids measuring less than 1 cm and presenting multricentric growth. Moreover, endoscopy can also be used in patents at high surgical risk.