Fatal complication of sickle cell anemia in an immigrant patient rescued from the mediterranean sea.

The aim of this case report is to share with the forensic science community the experience of a rare complication of sickle cell anemia: acute chest syndrome. In October 2016, at the port of the city of Trapani (Sicily, Italy), the landing of an ONG "Médecins Sans Frontières" ship took place with 548 non-EU citizens and a corpse on board. The man, in the hours before his death, complained of severe chest pain and respiratory difficulties, and, despite of the therapeutic aids and resuscitation maneuvers, lastly died. The Public Prosecutor ordered that autopsy be executed on the corpse of the young Ghanaian, and it was to be supplemented by histological, toxicological, genetic investigations, and the dating of the biological age. The autoptic examination findings were indicative of bilateral bronchopneumonia, and were also confirmed by the histological findings, which identified a condition of massive adipose pulmonary embolism, due to the presence of extramedullary hematopoietic tissue, site of endovascular thrombosis secondary to hemolysis of sickle cells. The spleen appeared of small volume, with fibrotic phenomena. The predisposition to infections, thrombosis, extramedullary hematopoiesis are all complications of sickle cell anemia. The severe pulmonary condition characterized by vaso-occlusive findings and pulmonary inflammation with infiltrate, symptoms like fever, chest pain and severe systemic hypoxia allowed to ascribe the plausible cause of death as acute chest syndrome, a rare complication of sickle cell anemia. The peculiarity of this clinical case is also related to the methods of medical intervention (boat with non-governmental medical support for assistance to migrants).

Anatomical features and clinical correlations in Caucasian patients with definite arrhythmogenic right ventricular dysplasia/cardiomyopathy.

AIM: Arrhythmogenic right ventrticular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by fibrofatty replacement and a high risk of ventricular arrhythmias (VA) and sudden cardiac death (SCD). The aim of the present investigation is to examine the pathological profile and the clinical correlations in a group of ARVD/C patients. METHODS: We conducted a multicenter study evaluating 47 patients (31 men; mean age 37±14 years) with definite ARVD/C. Diagnosis was established according to the actual clinicomorphologic criteria at autopsy or clinically. We divided the study population in 2 different groups. First group included 28 alive patients and the second 19 patients dead suddenly. RESULTS: Age at presentation was different in the two groups (P=0.0015). We observed an important association regarding the risk of sudden death and the history of physical exercise (P=0.0017). Moreover patients with negative outcome (i.e., SCD, cardiac transplantation, congestive heart failure) had a significantly association with biventricular form of ARVD/C (P=0.0034) and age presentation (P=0.003). Left ventricular (LV) involvement was frequently observed in the two groups (17% and 32% respectively). Post-mortem examination revealed frequent inflammatory infiltrates (26%) indicating active myocarditis, which probably justify the fatal arrhythmic events occurred in these patients. CONCLUSION: Frequent LV involvement justifies the recent adoption of the broad term Arrhythmogenic Cardiomyopathy. Early age presentation, sport activity and the biventricular form of ARVD/C represent important predictors of adverse outcome that can be useful to early identify patients at high risk.

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 64×0.625 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 mgI ml(-1)) and a monomeric high-iodinated contrast medium (Iomeprol 400 mgI ml(-1)) with dilutions of 1/80 (low concentration), 1/50 (medium concentration), 1/40 (high concentration) and 1/20 (very high concentration). Two radiologists drew regions of interest in the lumen and in calcified and non-calcified plaques for each solution. 29 cross-sections with non-calcified plaques and 32 cross-sections with calcified plaques were evaluated. RESULTS: Both contrast media showed different attenuation values within lumen and plaque (p<0.0001). The correlation between lumen and non-calcified plaque values was good (Iodixanol r=0.793, Iomeprol r=0.647). Clustered medium- and high-concentration solutions showed similar plaque attenuation values, signal-to-noise ratios (SNRs) (non-calcified plaque: medium solution SNR 31.3±15 vs 31.4±20, high solution SNR 39.4±17 vs 37.4±22; calcified plaque: medium solution SNR 305.2±133 vs 298.8±132, high solution SNR 323.9±138 vs 293±123) and derived contrast-to-noise ratios (p>0.05). CONCLUSION: Differently iodinated contrast media have a similar influence on plaque attenuation profiles. ADVANCES IN KNOWLEDGE: Since iodine load affects coronary plaque attenuation linearly, different contrast media may be equally employed for coronary atherosclerotic plaque imaging.

Reconstruction of full thickness scalp defects after tumour excision in elderly patients: our experience with Integra dermal regeneration template.

BACKGROUND: Scalp reconstruction after wide tumor excision is particularly challenging. Free tissue transfers, local flaps, or skin grafts can be used but present some disadvantages especially with old patients with local advanced cancers, systemic diseases and in patients with a prior history of recurring scalp skin cancers in which the risk of burying a recurring tumor with a flap is likely. The Authors expose their early experience with Integra dermal regeneration template for scalp reconstruction after scalp tumor excision. METHODS: Eight patients with primary or secondary scalp tumor underwent a first surgical procedure under local anaesthesia for tumor removal and Integra positioning followed by a second operation performed three weeks later to reconstruct the defect by removing the superficial silicon layer of Integra and by covering the defect with a split thickness skin graft. The average surface area of the defect was 143.27 cm(2). The average operating time was 30.4 minutes for the first operation and 45.6 minutes for the second operation. In six cases Integra was grafted as a classic full-thickness skin graft. In the remaining two cases the Integra template was meshed. The artificial derma was attached to the edge of the wound by either sutures or staples. RESULTS: There was a full graft take on all cases. The mean follow-up was 24 months. In two cases we were able to detect early tumor recurrence two months after the operation. Satisfactory cosmetic and functional results were obtained in all patients. CONCLUSIONS: In the scalp defect reconstructions after tumor excision, Integra allows to obtain a thicker and more durable coverage than skin graft on the skull, allowing to detect a tumor recurrence earlier than a flap reconstruction with no risk of burying an eventual underlying residual tumor. These operations are performed under local anaesthesia and are therefore suitable for elderly patients.

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 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.

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

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.

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

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.

Evaluation of the clinical and histological effectiveness of isotretinoin 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 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.

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 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.

An interesting question of Pompe disease. A case report.

Glycogenosis type II or Pompe disease is an inherited autosomal recessive disorder known in 3 different clinical forms (infantile, juvenile and adult). We report on a case diagnosed as a classic infantile form with the worst outcome of all 3 described, if we had followed and executed a correct and complete diagnostic pathway. A 7 months old female child was admitted for fever and dyspnoea. At chest auscultation weepings and weezings were found; on the cardiac apex a murmur due to mitralic failure was retrieved. The thorax X-ray showed a greatly increased heart shadow with a cardiothoracic index of 0.75. ECG showed high voltages and signs of bilateral ventricular hypertrophy. Cardiac ultrasonography confirmed the presence of a big heart with an enormous swollen left ventricle and a severe mitralic failure. The clinical diagnosis of infantile Pompe disease was confirmed by the almost total absence of cellular acid a-glucosidase activity but we couldn't perform the assay because of the rapid exitus of our patient, which occurred before glycogen storage disease II was suspected. So, we tried to compare our case with others reported in the literature in order to ratify our diagnostic hypothesis. The contribution of genetic counseling practiced on all the couples at risk remains useful every time that a certain diagnosis is made.

[Desmoplastic ameloblastoma. Clinical and histopathological diagnostic criteria]. / L'ameloblastoma desmoplastico. Criteri diagnostici anatomo-clinici.

A rare case of desmoplastic ameloblastoma observed in a 62-year old man presenting a swelling in the anterior mandible area with abnormal mobility of 33, 34, 43, 45, is described. Diagnosis of desmoplastic ameloblastoma was based on: anterior localization, radiopaque appearance, severe desmoplastic stroma and increasing infiltrate pattern of the tumor. The authors suggest to consider the desmoplastic histotype as a different nosological entity defined "desmoplastic ameloblastoma" since these clinical and histopathological features are missing in the other histologic variants of common ameloblastoma. A radical surgical treatment is suggested for this neoplasia.

[Adenoid cystic carcinoma of the anterior segment of the tongue]. / Carcinoma adenoideo-cistico del segmento anteriore della lingua.

The authors describe a rare case of adenoid-cystic carcinoma localized in the anterior tongue. The neoplasia is made up of epithelial and myo-epithelial cells, organized frequently in islands with cribriform aspect, was circumscribed by a thin fibrous capsule that was focally infiltrated in the proximity of the deep margin. At the physical examination no local regional lymph nodes were absent. The surgical excision and radiotherapy constituted the only therapeutic protocol. Absence of local relapse and/or distant metastasis after eight years from the operation confirm the low aggressiveness of the neoplasia when localized in the anterior part of the tongue.

Chronic sialoadenitis caused by Enterobius vermicularis: case report.

Enterobius vermicularis infection, an oro-faecal transmitted parasitosis, is a frequent finding in infant communities. Enterobius vermicularis is located predominantly in the caecum, appendix, and proximal areas of the ileum and colon, even if reports of some rare extra-intestinal cases have appeared in the literature. The case is reported here of a 62-year-old male presenting a mass in the right submandibular triangle. Histological examination, following removal of submandibular gland, revealed a granulomatous sialoadenitis due to Enterobius vermicularis. A review of the international literature confirms that this is a very rare site and it would appear to be the first report concerning enterobiasis in the salivary glands. Authors advance a hypothesis concerning a possible pathogenic mechanism.

Late sequelae of pontine lesions by acute uncal herniation.

The authors report the late macro- and microscopic aspects of the brainstem lesions found in two patients who survived an acute uncal herniation, respectively, 176 and 62 days. They also describe the evolution of the clinical picture characterized by the complete disappearance of initially present neurological signs but by a persistent comatose state.

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

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.

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 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.

[Acute necrotizing capillaritis in an adolescent dying from a a Goodpasture-like pulmonary-renal syndrome]. / Capillarite acuta necrotizzante in un giovane deceduto per sindrome polmonare/renale simil-Goodpasture.

In this report the authors describe a rare case of pulmonary/renal syndrome like-Goodpasture's disease characterized by a necrotizing acute capillaritis in the lung, kidney, liver, spleen and heart. In the heart the capillaritis was associated with a contiguous acute ischemic lesion. The clinical and pathologic findings of the case suggest that the presence of vasculitis should not exclude a diagnosis of Goodpasture's Syndrome and that the multisystemic capillaritis would demonstrate the organ-non-specificity of anti-glomerular/alveolar basement membrane antibody.

[Eosinophilic pulmonary arteritis in a full-term fetus with hypereosinophilia]. / Arterite polmonare eosinofila in un feto a termine con ipereosinofilia.

The case refers to a term-fetus, small-for-date, with polydramnios, idiopathic hypereosinophilic syndrome and eosinophilic vasculitis of large, medium and small-size pulmonary arteries. The pulmonary arteritis was the only lesion observed in the fetus.

[Giant-cell temporal arteritis. Anatomo-clinical study of 2 cases]. / Arterite temporale a cellule giganti. Studio anatomo-clinico di due casi.

The Authors describe two cases of giant cell arteritis in male and elderly patients 72 and 82 years old. In both cases the early symptoms and signs of disease (headache, fever, weight loss and sedimentation rate raised) were associated to classical histology of temporal arteritis (granulomatous inflammation with giant cells). In case 1 there was impaired vision, while in case 2 coexisted polymialgia rheumatica (pain and stiffness in the muscles of the neck, back and proximal portions of the limbs).