VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

Concealed arrhythmogenic rigth ventricula cardiomyopathy: pathologic substrates and high resolution MRI

Isolated non-compaction, stroke and trabecular meshwork fibrosis

Two cases of intra-pericardic dissection in Turner's syndrome women

Turner's syndrome is a genetic partial or complete monosomy of sexual chromosome X; therefore women affected by Turner's syndrome have 45 (XO) caryotype. In 15% of the cases Trner's syndrome is associated with cardiac congenital malformations, the most frequent anomalies are the aortic coartaction and the defect of interventricular septum. The authors introduce two cases of deceased women affected by Turner's syndrome caused by intrapericardic dissection of the ascending aorta.

Casi emblematici di morte improvvisa cardiaca - Caso 1: anomalie congenite delle arterie coronarie

Fibrodisplasia arteriosa misconosciuta ad esito letale. Descrizione casistica e rivisitazione della letteratura

gli autori presentano due casi di displasia fibromuscolare (DFM) oggetto di indagine giudiziaria per ipotizzata responsabilità professionale nell'operato dei sanitari all'esordio clinico e nell'approccio chirurgico. Viene sottolineata la necessità di una rapida risoluzione chirurgica in ambiente specialistico e l'importanza delle linee guida che devono essere rispettate nell'approccio al pziente

HIGH PREVALENCE OF VULVAL LICHEN PLANUS IN A COHORT OF ORAL LICHEN PLANUS AFFECTED PATIENTS.

Influenza della concentrazione iodica dei mezzi di contrasto sulla caratterizzazione della placca aterosclerotica coronarica valutata mediante TC Multistrato in un modello umano ex-vivo

Sudden death in adolescence caused by cardiac haemangioma

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…

Food intolerance and chronic constipation: manometry and histology study

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 i…

Homicide with post mortem dismemberment of the victim

Suggestive caratteristiche istomorfologiche della mucosa orale sana in pazienti affetti da morbo celiaco vs pazienti non celiaci:studio caso-controllo.

Sudden infant death caused by a ruptured coronary aneurysm during acute phase of atypical Kawasaki disease

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 current…

Istiocitosi a cellule di Langerhans. Report di un caso a localizzazione mandibolare. Ruolo dell'odontoiatra nella diagnosi e nel managment clinico.

Early onset Mirror Syndrome associated with foetal sacrococcigeal teratoma: a rare entity

In the mirror syndrome, maternal symptoms mime foetal and placental oedema. The pathogenesis is unknown. The most common etiologic associations are rhesus isoimmunization, twin-twin transfusion syndrome and viral infections. Few reports are associated to foetal tumors and particularly to sacroccoccigeal teratoma (SCT). Based on several published series, foetal SCT with placentomegaly and hydrops is almost universally fatal; foetal surgery is not typically offered for hydropic foetuses beyond 26 weeks of gestational age. Delivery of the foetus is the choise treatment when mirror syndrome is present with supporting the pregnancy until delivery is necessary for maternal indications or the foet…

Arrhythmic sudden cardiac death in a 3-year-old child with intimal fibroplasia of coronary arteries, aorta, and its branches

Abstract 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. T…

Can the TLR-4-mediated signaling pathway be "a key inflammatory promoter for sporadic TAA"?

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…

Case Report: Unusual Clinical Presentation of a Rare Cardiac Inflammatory Myofibroblastic Tumor in Children: The Differential Diagnosis With Pediatric Emergencies

Introduction: There are still no guidelines about pediatric cardiac cancers. The purpose of this work is to provide new scientific data facilitating the differential diagnosis of a rare cardiac tumor with an unusual presentation, such as the cardiac inflammatory myofibroblastic tumor (IMT).Case Presentation: A 3-year-old male child presented with several symptoms including unconsciousness, vomiting, and drowsiness. A clinical and neurological examination revealed a unilateral (right) motor delay and positive unilateral Babinski sign. Electrocardiogram (ECG) was normal.Diagnostic Assessment: The total body computed tomography (CT) scans showed hypodensity in the left temporal–parietal lobe, …

Istiocitosi a cellule di Langherans.report di un caso a localizzazione mandibolare.ruolo dell'odontoiatra nella diagnosi e nel management clinico

Morte improvvisa giovanile inspiegata e ruolo dell'indagine medico-legale: aggiornamento dell'autopsia molecolare

Can Immunohistochemical stains aid torule out pitfalls in suffucation death?

Rare occurrence of Whipple Disease in a young female patient with a fatal outcome

Abstract 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 …

Death of a 23-year-old man from cardiac conduction system injury through a blunt chest impact after a car accident.

Abstract 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-endoc…

Cardiovascular Implantable Electronic Device Infection and New Insights About Correlation Between Pro-inflammatory Markers and Heart Failure: A Systematic Literature Review and Meta-Analysis

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 extrac…

Juvenile sudden cardiac death due to congenital coronary ostial valve-like ridges: A case report and literature review

Coronary artery anomalies are a heterogeneous group of congenital disorders affecting the coronary pattern with a characteristic (origin, number, number of hosts, course, etc.). They are rarely found in the population. We report the case of a 21-year-old male who died from sudden cardiac death caused by an isolated coronary ostial obstruction, secondary to a rare anomaly, the presence of a valve-like ridge consisting of a small fold in the Valsalva aortic sinus. The study provides a brief literature review on the pathophysiology, diagnosis, and clinical and medico-legal issues in coronary artery anomaly cases that may be helpful in forensic practice when dealing with sudden cardiac death i…

Can immunohistochemical stains aid to rule out pitfalls in suffocation deaths ?

Focus on the unique mechanisms involved in thoracic aortic aneurysm formation in bicuspid aortic valve versus tricuspid aortic valve patients: clinical implications of a pilot study.

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 enrolle…

Angiogenesis in oral lichen planus: an in vivo and immunohistological evaluation.

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 paramete…

Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.

Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…

Prevalence of vulval lichen planus in a cohort of women with oral lichen planus: an interdisciplinary study

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.…

Coronary artery anomalies and juvenile sudden cardiac death

Modificazioni morfo-strutturali placentari nel ritardo di crescita asimmetrico idiopatico [Morphological and structural placental changes in intrauterine growth-restricted fetuses]

Obiettivo: valutare le alterazioni dello sviluppo e della struttura dei villi conati di placente di gravidanze con ritardo di crescita fetale asimmetrico idiopatico (IUGR) tardivo. Pazienti e metodi: sono state esaminate 45 placente di pazienti con IUGR idiopatico con parto, per via vaginale o addominale, espletato dal gennaio 2001 al dicembre 2007. L’esame istologico è stato condotto secondo le linee guida del Gruppo Italiano di Anatomia Patologica. La diagnosi di IUGR è stata posta sulla base dell’evidenza clinica ed ultrasonica di ridotta crescita fetale e basso peso neonatale in associazione a riduzione del liquido amniotico e a placenta “matura” all’esame USG. Risultati: l’esame istol…

Asthmatic bronchial lesions in drug addicted

Post-mortem Foetal Imaging

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.

A fatal iatrogenic right vertebral injury after transoral odontoidectomy and posterior cervical stabilization for a type II odontoid fracture.

Abstract 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, e…

Histological and genetic studies in patients with bicuspid aortic valve and ascending aorta complications.

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 (…

Usefulness of autopsy in the operated complex congenital Heart diseases

Morte improvvisa da cardiomiopatia aritmogena del ventricolo destro in soggetto adulto durante pratica sportiva agonistica

Utility of post mortem MRI in definition of thrombus in aneurismatic coronary arteries due to incomplete Kawasaki Disease in infants

Abstract 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…

Isolated coronary anomalies and sudden death in the young

Chronic constipation and food intolerance: A model of proctitis causing 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 …

UN CASO DI SINDROME DA RIVASCOLARIZZAZIONE SUCCESSIVA A INNESTO DI PROTESI DELL’AORTA PER LESIONE JATROGENA

La sindrome da rivascolarizzazione (SR) comprende un insieme di eventi metabolici ed emodinamici che insorgono in un arto rivascolarizzato dopo un periodo più o meno lungo di ischemia, caratterizzata da specifiche manifestazioni cliniche sia a livello locale che sistemico. Riportiamo qui di seguito un caso di SR occorsa in una giovane donna di anni 20 con Sindrome di Turner e tiroidite autoimmune la quale veniva sottoposta ad intervento di giuntopieloplastica sinistra Robot assistita, poiché affetta da stenosi del medesimo giunto ed idronefrosi sinistra.

Bifocal manifestation of eosinophilic granuloma in a paediatric patient-A case report

Background: 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. Case Report: 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 c…

Report di localizzazione mandibolare dell'istiocitosi a cellule di Langherans

Histomorphological features of health oral mucosa in celiac patients:unexspected association with spongiosis.

A rare case of neuroma of the tongue

Biphasic pleural mesothelioma in a electrician working in a railway company: Case report and current trends in mesotheliomas in Italy

Background: Mesothelioma is an aggressive tumour that can involve the pleura, the peritoneum, and sometimes other mesothelia, such as the pericardium and the tunica vaginalis testis. Scientific communities have known for a long time the causal correlation between exposure to asbestos (work related or not) and the onset of the disease (in 75% - 90% of cases) and the increasing number of asbestos-correlated mesotheliomas expected in the next years. Case presentation: The authors present the case of an electrician, 66-year-old man, died for pleural mesothelioma, working in Palermo in the company of the Italian Railways for a period of about 20 years, exposed to asbestos. Frequently he disassem…

Anomalous Origin and Course of the Right Coronary Artery

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 …

Mandibulary Eosinophilic Granuloma: Case Series

Eosinophilic granuloma is a proliferation of Langerhans cells in the bones that most commonly involving the skeletal system. The disease generally affects children or young adults with predominance in males and it is characterized by a single or multiple skeletal lesions. This study describes a few cases of mandibular Eosinophilic Granuloma and the effects of surgical curettage of lesions

When a death apparently associated to sexual assault is instead a natural death due to idiopathic hypereosinophilic syndrome: The importance of gamma-hydroxybutyric acid analysis in vitreous humor

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 n…

A particular phenotype of ascending aorta aneurysms as precursor of type A aortic dissection.

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,…

Unexpected high frequency of genital involvement in women with clinical and hostological features of oral lichen planus

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. Foll…

Cervico-Facial Actinomycosis: Epidemiological and clinical comments

In a retrospective investigation performed in the department of Surgical Odontostomatology of Palermo University Polyclinic from 1997-2006, the authors examined 12 cases of cervico-facial actinomycosis, taking into consideration age range, gender distribution, predisposing factors and symptoms. In concordance with reports in literature, they found that the disease was perimandibular in 65%, they also report the diagnostic methods and therapeutic approaches used in the study

Morte improvvisa coronarica in soggetto con TBC polmonare miliarica e miocardite granulomatosa specifica. Correlazioni istopatogenetiche

Morte improvvisa cardiaca: cause, criteri di normalità e zone "grigie"

Early structural degeneration of Mitroflow aortic valve: Another issue in addition to the mismatch?

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.

Lichen Planus Vulvare - Uno studio su popolazione selezionata

Evaluation of the clinical and histological effectiveness of isoretinoin in the therapy of oral leukoplakia. Ten years of experience: is management still up-to-date and effective?

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 biop…

Oral Mucosa of celiac patients produces anti-endomysial and anti-transglutaminase antibodies. Diagnostic usefulness of an in vitro culture system.

High prevalence of vulvar liche planus in a cohort of oral liche planus affected patients

Fibroelastosi endocardica congenita in coso di autopsia fetale per sospetta malpractice professionale. Caso clinico e revisione della letteratura

Gli Autori presentano il caso di una donna giunta alla 39,4 settimana di gestazione, regolarmente sottoposta ad esami clinici e strumentali che evidenziavano un decorso regolare della gravidanza eccetto oligoamnios. La paziente espletava il parto con feto nato vivo ma non vitale. L'esame esterno del cadavere evidenziava esclusivamente cianosi generalizzata. L'esame autoptico ha evidenziato cardiomegalia con incremento di tutte le cavità cardiache con rapporto cardio-toracico 6.5/8.5 ed un aspetto porcellanaceo delle pareti ventricolari di sinistra. All'istologia tale ispessimento era causato da fibroelastosi diffusa dell'endocardio associata a marcata miocitolisi colliquativa del miocardio …

TRA ORRORE E SCIENZA: LA NASCITA DEL GABINETTO DI ANATOMIA PATOLOGICA DELL'UNIVERSITÀ' DI PALERMO

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.

Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report.

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.

Oral and genital lesions in women affected by lichen planus association or coincidence ?

IL NEUROFIBROMA CENTRALE SOLITARIO DELLA MANDIBOLA

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and p…

TRATTAMENTO ENDOSCOPICO DEI POLIPI DEL COLON-RETTO IN UN AMBULATORIO DI ENDOSCOPIA DIGESTIVA:NOSTRA ESPERIENZA

The aim of this report was to evaluate the effectiveness of the endoscopic treatment of colonic polyps to allow secondary prophylaxis in order to prevent the onset of cancer arising from adenomas. From October 2002 to January 2004 we performed 487 colonoscopies on a patient group with the following indications: screening prior to kidney transplant; screening for colorectal cancer (patients positive at faecal occult blood testing); follow-up of patients who had undergone colonic resections for colorectal cancer; patients with other diseases. Colorectal polyps were diagnosed in 15 males and 15 females, with a mean age of 63 years. All the neoplasms were resected during colonoscopy and specime…

Angiogenesis of oral lichen planus: a possible pathogenetic mechanism.

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 (ICA…

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

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.

Useless and limits of Postmortem CT (PMCT) in a complex case of preterm infant murder

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 del…

THE ROLE OF INFLAMMATION IN TYPE A AORTIC DISSECTION: A PILOT STUDY

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 immunois…

Oral manifestation of Kawasaki disease

Accuracy of 2 dimentional echocardiogramma for the assessment of coronary artery lesion in pediatric patients with Kawasaki disease

A CASE OF SUDDEN CARDIAC DEATH BY ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA

Images in cardiovascular medicine. Anomalous origin and course of the right coronary artery.

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 of death and revealed an underlying congenital heart disease, which was characterized by a congenital bicuspid aortic valve and an anomalous origin of the right coronary artery just above the median raphe of the anterior cusp

Comparison of iodinated contrast media for the assessment of atherosclerotic plaque attenuation values by CT coronary angiography: observations in an ex vivo model

Objective: To compare the influence of different iodinated contrast media with several dilutions on plaque attenuation in an ex vivo coronary model studied by multislice CT coronary angiography. Methods: In six ex vivo left anterior descending coronary arteries immersed in oil, CT (slices/collimation 64x0.625 mm, temporal resolution 210 ms, pitch 0.2) was performed after intracoronary injection of a saline solution, and solutions of a dimeric isosmolar contrast medium (Iodixanol 320 mgl ml(-1)) and a monomeric high-iodinated contrast medium (Iomeprol 400 mgl ml(-1)) with dilutions of 1/80 (low concentration), 1/50 (medium concentration), 1/40 (high concentration) and 1/20 (very high concent…

Histomorphology of healthy oral mucosa in untreated celiac patients: unexpected association with spongiosis.

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 comp…

Schwannoma of the larynx. Case report

Neuretogenous tumours of the larynx are extremely uncommon. We present a case of schwannoma of the larynx and review pertinent data in the literature. Laryngeal schwannoma was discovered in a 80-year-old woman who complained of persistent dysphonia. The histological findings leading to diagnosis together with the therapeutic surgical procedure are described. There was no postoperative complication and functional outcome was excellent at six months follow-up, demonstrating that conservative surgery is required for this type of disease. Conservative surgery provides excellent results. Although very rare, schwannoma should be taken into consideration in the differential diagnosis of any laryng…

Origine e decorso anomalo della coronaria destra in un caso fatale di tromboembolismo polmonare post-operatorio

La rilevanza del tromboembolismo polmonare trova giustificazione nella sua grande incidenza, nei dati sulla mortalità e nella sua brusca modalità di insorgenza, che la rende trattabile durante la fase acuta. L'arma più efficace contro la TEP è la prevenzione e a tal fine sono state proposte numerose linee guida. Scopo del presente lavoro è illustrare un evento tromboembolico polmonare fatale determinatosi nonostante la somministrazione di una tromboprofilassi aderente alle più accreditate linee guida emanate sull'argomento. La particolare origine anomala della coronaria destra del soggetto, non nota in vita, ha certamente favorito il decesso. Gli Autori pertanto illustrano il ruolo causale …

CONGENITAL NEUROBLASTOMA: A RARE CASE OF PLURIVISCERAL METASTATIC DISSEMINATION

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 unders…

Oral Mucosa of celiac disease patients produces anti-endomysial and anti-transglutaminase antibodes. Diagnostic usefulness of an in vitro culture system

Il fibroma simmetrico del mascellare superiore .

Iron in the human hearts: distribution and association with R2* values by CMR

Histomorphological features of healthy oral mucosa in coeliac patients: unexpected association with spongiosis”.

“TRANSMURAL CORONARY INFLAMMATION «TRIGGER» OF INSTABLE PLAQUES RUPTURE”

Oligo-antigenic diet in the treatment of chronic anal fissures. Evidence for a relationship between food hypersensitivity and anal fissures.

Abstract 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 cha…

Progressive Isolated Hypoglossal Nerve Palsy and Sudden Asphyzial Death

Abnormalities of the umbilico-portal venous system in Down syndrome: A report of two new patients

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…

A randomized trial assessing the effectiveness of different concentrations of isotretinoin in the management of lichen planus

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 …

Oral mucosa of coeliac disease patients produces antiendomysial and antitransglutaminase antibodies: the diagnostic usefulness of an in vitro culture system

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…

Cardiomiopatia aritmogena del ventricolo destro in giovane uomo deceduto in incidente stradale

Gli autori segnalano un caso di propria osservazione riguardante il decesso di giovane uomo, sportivo, con anamnesi familiare e patologica negativa per patologie cardiache, coinvolto in incidente stradale autonomo; la cui causa del decesso veniva inizialmente attribuita (sulla scorta della sola ispezione cadaverica effettuata dal medico del 118 intervenuto sul luogo) ai gravi effetti contusivi cerebrali connessi al trauma cranico. Il successivo esame autoptico, disposto dall’A.G., completato dagli esami di laboratorio, consentiva di individuare la sussistenza di una ampia sostituzione fibro-adiposa del miocardio del ventricolo destro, comprendete la porzione epicardica e gli strati intermed…

Embolizing inflammatory pseudotumor of the heart

Report di localizzazione mandibolare dell'istiocitosi a cellule di Langerhans

Noncompaction of the Right Ventricle

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. Accordi…

Pathophysiological implications of inflammation and genetic inflammatory factors in hypertensive and old patients affected by sporadic thoracic aortic aneurysm