[2 cases of adenoid cystic carcinoma of the external ear].
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Aged↗
Biomedical subjects
M Santucci
Publications and source records attributed to M Santucci.
[Mucoepidermoid tumor of the salivary glands].
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Biopsy↗
Interictal EEG findings in two cases with 'double cortex' syndrome.
'Double cortex' is a neuroblast migrational disorder characterized by a diffuse band of heterotopic grey matter between the lateral ventricles and cerebral cortex which may be normal or macrogyric. The authors report two girls with 'double cortex' syndrome presenting intractable partial epilepsy and severe mental retardation. EEG data are analysed in detail because such patients presented a particular interictal EEG background activity, not only with very stable features during the different stages of vigilance, but also uninfluenced by seizure frequency or duration. The authors raise the possibility that a further in vivo diagnostic parameter for this syndrome has been identified.
Adolescent↗
EEG features and epilepsy in patients with autism.
Epileptic seizures are frequently reported (4-32%) in autism. These values are higher than in the normal population of children and adolescents (0.5%). In the literature there is no uniform description of epilepsy in autism. We examined 106 patients with autistic disorder divided into three groups on the basis of presence or absence of EEG paroxysmal abnormalities (PA) and / or epilepsy including febrile convulsions (FG). Our patients presented an autistic syndrome unrelated to clear congenital or acquired encephalopathy. The prevalence of epilepsy and EEG PA was 23.6% and 18.9%, respectively. Significant differences between the three groups appeared for (i) familial antecedents for epilepsy / FC and neurologic and psychiatric diseases (P < 0.004), (ii) a different proportion between the three groups for mental retardation (P < 0.03), (iii) and EEG fast activity (P < 0.04). Our patients showed several types of epilepsy, including idiopathic forms with seizure onset after the age of 10 in 45% of cases. Seizures were mainly partial, not frequent and controllable by anti-epileptic drugs. PA were mostly focal and multifocal and in 45% of cases were typical of benign childhood partial epilepsy with centro-temporal spikes. The higher incidence of epilepsy and EEG PA is apparently not related to organic pre-, peri- and postnatal antecedents or cerebral lesions. On the contrary, genetic factors responsible for autism and epilepsy seem important in the genesis of these two disorders.
Adolescent↗
Ultrapath X: international resurgence of ultrastructural pathology.
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Humans↗
Ultrastructural features of solid/trabecular areas in differentiated thyroid carcinoma.
The presence of areas exhibiting a solid/trabecular pattern of growth within an otherwise differentiated thyroid carcinoma represents a source of controversy as regards its proper classification and biologic and prognostic significance. The aim of the current study was to investigate the ultrastructural features of solid/trabecular areas in differentiated thyroid carcinoma and to compare those features with the submicroscopic profile of differentiated, poorly differentiated (insular), and undifferentiated (anaplastic) variants of thyroid cancer. The study series included differentiated carcinoma with solid/trabecular areas (3 cases), conventional papillary carcinoma (4 cases), follicular variant of papillary carcinoma (4 cases), poorly differentiated (insular) carcinoma (3 cases), and undifferentiated (anaplastic) carcinoma (3 cases). It was found that the solid/trabecular areas in differentiated carcinoma and poorly differentiated (insular) carcinoma share similar ultrastructural features and overall retain, even if attenuated, many of the submicroscopic attributes of differentiated carcinomas. In particular, nests of neoplastic cells were observed showing a highly developed cytosecretory apparatus and the presence of numerous abortive/rudimentary follicles, and intercellular and intracellular (intracytoplasmic) lumina/canaliculi of variable morphology. The study supports the hypothesis that the solid/trabecular areas do not merely represent an architectural pattern but rather should be regarded as the expression of a process of reduced differentiation similar to that of poorly differentiated (insular) carcinoma.
Adenocarcinoma↗
Middle ear adenoma is an amphicrine tumor: why call it adenoma?
Middle ear adenoma (MEA) is a rare tumor postulated to take origin from the lining epithelium of the middle ear cavity. The authors report on a case of MEA arising in a 53-year old woman suffering from a sensation of fullness in her left ear, otalgia, and light left-sided hearing loss. Histopathologically, the lesion was composed of cuboidal and polygonal cells displaying a trabecular, tubulo-glandular, and solid pattern of growth. Immunohistochemically, neoplastic cells diffusely stained with anti-vimentin antibodies and were focally positive for chromogranin A, neuron-specific enolase, lysozyme, and cytokeratins AE1/AE3. The majority of tumor cells showed weak and diffuse staining with both anti-PP and anti-ACTH antibodies and intense positivity with anti-glucagon and anti Leu-7 antibodies. Ultrastructural investigation revealed both mucinous-glandular and neuroendocrine differentiation. The authors suggest that the appropriate terminology would be adeno-carcinoid or amphicrine tumor of the middle ear rather than "adenoma," a term that does not reflect its dual nature.
Adenoma↗
Primary pulmonary rhabdomyosarcoma: report of a case in an adult and review of the literature.
A case of primary pulmonary rhabdomyosarcoma occurring in a 62-year-old man is reported, and a review of the literature is presented. The tumor affected the left upper lobe and involved the mediastinal lymph nodes. Immunohistochemical and ultrastructural studies supported the myogenic phenotype of the neoplasm. A left pneumonectomy was performed with complete surgical removal of the tumor. Postoperative radiotherapy was carried out. The patient is currently alive and free of disease 9 months after operation. Despite the rarity of primary pulmonary rhabdomyosarcoma, this tumor should be differentiated from other poorly differentiated pulmonary neoplasms and from metastatic sarcomas.
Humans↗
Submicroscopic and immunohistochemical profile of surface osteosarcomas.
While the analysis of the clinical, radiologic, and histopathologic features of surface osteosarcomas has been the subject of several papers, identification of the phenotypic features of these tumors has so far received little attention. The aim of the present study was to characterize the neoplastic cells of surface osteosarcomas using an ultrastructural and immunohistochemical approach. Glutaraldehyde-fixed, epoxy resin-embedded archival pieces of tissue from 8 surface osteosarcomas (4 parosteal low-grade osteosarcomas, 3 dedifferentiated parosteal osteosarcomas, 1 periosteal osteosarcoma) were investigated using transmission electron microscopy. Sections of formalin-fixed, paraffin-embedded tumor specimens were employed for the immunohistochemical analysis of osteonectin and osteocalcin, two markers of cells of osteoblastic lineage, and sigma-smooth muscle actin and muscle specific actin. By electron microscopy, the tumors were composed of a mixture of neoplastic cells with varied differentiation, i.e., osteoblast-like, fibroblast-like, myofibroblast-like, and chondroblast-like. The latter were particularly abundant in the periosteal osteosarcoma. Osteocalcin expression was detected in the cytoplasm of neoplastic cells in 6 cases (66.6%), while osteonectin was expressed at least focally in all cases. The expression of the noncollagenous bone proteins was higher in low-grade osteosarcomas than in dedifferentiated osteosarcomas. sigma-Smooth muscle actin and muscle-specific actin expression were detected in 4 (44.4%) and 5 (55.5%) cases respectively, and the distribution was similar in both low-grade and dedifferentiated lesions. The results do not confirm previous observations regarding the prevalence of a specific cellular phenotype in surface osteosarcomas. Further, the myofibroblast-like cells that are present in variable numbers in these tumors are probably modified osteoblasts, since they co-express actin, osteonectin, and osteocalcin.
Actins↗
Carnitine disposition before and during valproate therapy in patients with epilepsy.
Free and total carnitine and acylcarnitine in plasma and urine samples was measured in 22 epileptic patients before and after 15 and 45 days of valproate (VPA) therapy and in 16 healthy volunteers on a single occasion. Carnitine plasma concentration and renal excretion observed in epileptic patients before VPA therapy did not differ from control values. After VPA was started, free and total plasma concentration decreased significantly (p < 0.05) from 49 +/- 17 to 35 +/- 16 at 15 days and to 35 +/- 13 nmol/ml at 45 days of therapy (free carnitine) and from 60 +/- 18 to 50 +/- 18 at 15 days and to 55 +/- 14 nmol/ml at 45 days of therapy (total carnitine), whereas acylcarnitine increased significantly (p < 0.05) from 10 +/- 8 to 14 +/- 8 at 15 days and to 18 +/- 16 nmol/ml at 45 days of therapy. Free carnitine urinary excretion decreased significantly (p < 0.05) from 200 +/- 135 to 115 +/- 76 and 118 +/- 75 mumol/24 h, whereas acylcarnitine urinary excretion increased significantly (p < 0.05) from 78 +/- 56 to 154 +/- 98 and 155 +/- 89 mumol/24 h after VPA therapy was started. As a consequence, acylcarnitine renal clearance increased significantly (+30%, p < 0.05) whereas free carnitine renal clearance did not change during VPA therapy. No difference was detected between 15 and 45 days of therapy. No patients experienced symptoms of VPA toxicity. Our results suggest that VPA in patients increases both formation and renal clearance of acylcarnitine.
Acylation↗
Histopathologic interobserver agreement on the diagnosis of melanocytic skin lesions with equivocal dermoscopic features: a pilot study.
AIMS AND BACKGROUND: Dermoscopy (dermatoscopy, skin surface microscopy, epiluminescence microscopy) has been increasingly employed in recent years for the preoperative detection of cutaneous melanoma, and dermatoscopic features of pigmented skin lesions have been previously defined using histopathology (HP) as the "key to the code". The aim of the present study was to evaluate the interobserver agreement on the HP diagnosis in a series of epiluminescence microscopy equivocal melanocytic skin lesions. STUDY DESIGN: Ten melanocytic skin lesions were selected on the basis of diagnostic disagreement of at least 2 out of 9 epiluminescence microscopy observers. The histologic specimens from the 10 lesions were examined by 9 HP observers. The agreement of the HP diagnoses was calculated by means of Fleiss' k statistics. RESULTS: The overall HP agreement was less than excellent (k = 0.5). When considering the prevailing epiluminescence microscopic and HP diagnoses, 2 cases were shown to be epiluminescence microscopy false-negative melanomas. Virtually no agreement was found among epiluminescence microscopy observers in 4 cases (40%) or among HP observers in 3 cases (30%). However, only one pigmented skin lesion remained unclassifiable on epiluminescence microscopy as well as HP. CONCLUSIONS: When at least 2 epiluminescence microscopy experts disagree in the evaluation of a given melanocytic skin lesion, even HP consultations may give equivocal results. The need to establish more reliable epiluminescence microscopic and HP criteria by performing an improved and meticulous clinicopathologic correlation, e.g. by using telecommunication via Internet, is emphasized.
Adult↗
The role of apoptosis in the pathogenesis of dermatitis herpetiformis.
Apoptosis is a form of cell death that is claimed to be involved in a number of chronic inflammatory and malignant skin diseases. The aim of this study was to investigate whether apoptosis may contribute to the pathogenesis of epidermal changes in dermatitis herpetiformis (DH) and, in particular, whether certain apoptosis-related markers such as Bax, Bcl-2, Fas and Fas ligand (FasL) take part in this process. For the detection of apoptotic nuclei, terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end labelling technique (TUNEL) was employed on cryostat sections. Skin lesions from six and perilesional skin from four DH patients were stained with monoclonal antibodies to Bax, Bcl-2, Fas and FasL. The same evaluation was also performed on three patients affected by bullous pemphigoid (BP) and in two healthy donors. Using TUNEL technique, a remarkable increase in the apoptotic rate within the epidermal compartment was observed in DH and BP patients in comparison with normal controls. In our immunohistochemical analysis, Bax/Bcl-2 ratio was almost the same in the epidermis of perilesional/lesional DH, BP and healthy skin specimens. In DH and BP specimens both Bax and Bcl-2 proteins were increased in the dermal perivascular compartment. Fas showed a prevalently epidermal staining, both in DH and BP lesions, while FasL was distributed in perivascular and subjunctional dermis; some FasL+ cells infiltrated the DEJ and the basal layer of epidermis. This study allowed us to highlight conspicuous apoptotic phenomena in basal and suprabasal keratinocytes within lesional and perilesional skin of DH. We conclude that in DH, as well as in BP, apoptosis plays a role in the pathogenesis of cutaneous lesions in concert with other pathogenetic mechanisms.
Adolescent↗
Submicroscopic profile of Isospora belli enteritis in a patient with acquired immune deficiency syndrome.
Small bowel mucosal fragments from a human immunodeficiency virus-positive female patient with chronic diarrhea were investigated by transmission electron microscopy, and Isospora belli enteritis was documented. The submicroscopic profile was characterized by a moderate abnormality of mucosal architecture with reduction in height of villi and hypertrophy of crypts. Stages of both asexual (trophozoite, schizont and merozoite) and sexual (macrogametocyte) phases of the life cycle of the parasite were identified in the epithelium, always enclosed within a parasitophorous vacuole. Moreover, the presence of occasional extracellular merozoites in the intestinal lumen and in the lamina propria near or within lymphatic vessels was documented. These findings expand the current knowledge of this parasite regarding its capacity to survive in an extracellular environment and document a possible mechanism by which extraintestinal infection can take place.
AIDS-Related Opportunistic Infections↗
Human generalized argyria: a submicroscopic and X-ray spectroscopic study.
A 58-year-old man presented with a slate-gray discoloration of the skin. The patient had no medical complaint apart from the increasing cosmetic disability. He gave no drug history and denied professional exposure to chemical compounds. General medical examination was noncontributory; routine laboratory data were within the normal range. Light microscopy revealed the presence of numerous, small, pigmented particles at the dermal level. The submicroscopic investigation showed that the granules were deeply electron dense, had an irregular polycyclic contour, and varied in size between 100 and 600 nm. They were predominantly located in relation to the basal laminae of the epidermis and the cutaneous appendages, and in the dermal elastic fibers. In addition, the authors were able to document the presence of silver particles lying free in the cytoplasm of both epithelial cells of the secretory segment of eccrine sweat glands and mastcells, findings that have never been reported so far. X-ray spectroscopy documented that the electron-opaque particles contained silver, with some differences in the elemental composition of the granules, according to their location. These novel findings expand the knowledge of the various mechanisms of interaction of silver with the cellular and extracellular environment and allow some speculations about possible mechanisms of silver detoxification.
Argyria↗
Immunohistochemical and ultrastructural investigation of neural differentiation in Ewing sarcoma/PNET of bone and soft tissues.
The authors evaluated the role of immunohistochemistry and electron microscopy in defining neural differentiation in 28 cases of Ewing sarcoma/PNET. The panel of primary antibodies used included vimentin, MIC-2, NSE, S-100 protein, leu7, neurofilaments, GFAP, and chromogranin A. Cases were considered undifferentiated when neural markers were absent, poorly differentiated if one neural marker was present, and well differentiated if two or more markers were observed. Cases were also evaluated for the presence of cytoplasmic processes, microtubules, and neurosecretory granules as ultrastructural features of neural differentiation: the tumor was classified as well differentiated if two of these features were present; and poorly differentiated if one was evident; all other cases were considered undifferentiated. According to immunohistochemistry, 10 cases (35.7%) were undifferentiated, 12 cases (42.9%) were poorly differentiated, and 6 (21.4%) were well differentiated. According to the ultrastructural analysis, 10 tumors were undifferentiated (35.7%), 14 poorly differentiated (50%), and 4 well differentiated (14.3%). The overall concordance between the two techniques was low (35.7%), and both modalities were concordant in classifying only 1 well-differentiated, 5 poorly differentiated, and 4 undifferentiated tumors. In conclusion, the authors suggest that investigations devoted to test the prognostic significance of neural differentiation in these neoplasms should employ both immunohistochemistry and electron microscopy, separately and in combination, to assess what is the most effective choice for predicting the clinical course.
Adolescent↗
Calf pseudohypertrophy in a patient with double neurogenic pathology.
A pseudohypertrophy of the calf can be rarely associated with neurogenic pathologies as S-1 radiculopathy, poliomyelitis, spinal muscular atrophy, traumatic lesions of peripheral nerves, intraspinal neurinoma. The causes of this particular phenomenon are unknown. The authors present the case of a 52-year-old man with an enlargement of the left calf suffering from a mild form of spinal paralytic poliomyelitis in the early childhood and episodes of severe left sciatica in the last four years. Electromyography demonstrated a pattern of denervation in both legs and an H-reflex absent when the left tibial nerve was stimulated. An open muscle biopsy of the left calf was performed. Light microscopic and ultrastructural examination of the muscle confirmed the presence of a pattern of "neurogenic type" pseudohypertrophy. Our results could be interesting for the understanding of the mechanism of neurogenic pseudohypertrophy. This case suggests that timing of stimulus or "dose" of denervation may be important factors in such a phenomenon.
Electromyography↗
[Sebaceous linear nevus syndrome with hemimegalencephaly. Report of a case].
The case of a 7-year-old girl, born from a monochorionic biamniotic pregnancy (with healthy male twin) is presented. The patient showed a congenital brown-yellowish, raised, rough and oval-shaped nevic neoformation of the right temporo-zygomatic region. At 28 days of age she had a right hemiclonic status epilepticus, and from the 8th month of life she presented right sided partial motor seizures. Moreover from the beginning, her development milestones were delayed. When she was 5 years old an electroencephalogram displayed a sharp asymmetrical background activity, a continuous paroxysmal activity on the right hemisphere and independent focal irritative anomalies on the left posterior region. Her computed tomographic scan demonstrated megalencephaly on the right hemisphere. A biopsy specimen of her skin lesion showed the histological characteristics of a nevus sebaceous of Jadassohn. Taken together the clinical, neuroradiological and dermatological data led to the diagnosis of linear nevus sebaceous syndrome.
Cerebral Cortex↗
[Cystic nephroma. Histological and ultrastructural study of a case observed in an adult].
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Adult↗