Keratoconus: the possible involvement of inflammatory cytokines in its pathogenesis. An experimental study and review of the literature.

OBJECTIVE: Keratoconus (KC) is generally described as a non-inflammatory disease, characterized by thinning in the central region of the cornea with consequent tissue degradation producing impaired visual acuity. MATERIALS AND METHODS: In our experimental study, we analyzed the presence and implications of several inflammatory cytokines in the corneal tissues of patients suffering from keratoconus by immunohistochemical analysis. RESULTS: The analysis showed increased levels of inflammatory factors in the pathological tissues compared to controls, confirming that KC cannot be considered an entirely non-inflammatory pathology and that its etiopathogenesis includes several chronic inflammatory events. CONCLUSIONS: In the light of these results, the classification of KC as an inflammatory pathology or as a pathology related to inflammation might be useful in directing future research aimed at developing effective anti-inflammatory therapies to pharmacologically target the inflammatory mediators which contribute to the development and progression of the disease.

Axillary ectopic lobular carcinoma of breast: two rare case reports.

OBJECTIVE: The presence of ectopic or supernumerary breast tissue is a rare event, related to a not complete regression of breast tissue along the milk line. Primary ectopic breast cancer of the axilla can create many difficulties in differential diagnosis with subsequent delayed specific treatments. The incidence of ectopic breast tissue is 0.2-6%, and the axilla is the most common site involved. In this tissue, the same physiologic and pathologic changes as seen in ectopic breast tissue may occur, including carcinoma formation. PATIENTS AND METHODS: Two patients (a 56 years old and 70 years old women) came to our attention for the recent development painless nodular axillary lesions, clinically characterized by an increased thickness, irregular margins and adherence to the floors below. RESULTS: Patients underwent ultrasonography (US) and mammography (MMG) revealing non-specific features of the lesions. Magnetic resonance imaging (MRI), demonstrated margins slightly irregular and a non-specific appearance of each lesion. Both patients underwent wide local excision with axillary lymph node dissection. Histological examination showed infiltrating lobular carcinomas of the breasts. CONCLUSIONS: We describe two unusual cases of ectopic axillary breast carcinoma localization. It is important a correct and fast diagnosis with a local examination, diagnostic instruments, surgical excision and histological examination.

Basal cell carcinomas in a young woman with Steinert's disease.

Steinert's disease or Myotonic dystrophy type I (DM1) is an autosomal dominant disease characterized by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and electrocardiographic alterations.Several tumors have been associated with DM1 such as pilomatricoma, thymomas and insulinomas. Herein, we describe the unusual onset of multiple basal cell carcinomas in a young woman with DM1.

Superficial leiomyosarcoma of the glans: report of a case and literature review.

Primary leiomyosarcomas of the penis are rare. Clinically and pathologically, these tumors fall into two groups: superficial and deep. Superficial lesions usually are low grade and show a limited tendency toward distant metastasis. In contrast, deep-seated tumors usually show a more aggressive behavior associated with a poor prognosis. A 62-year-old man with a superficial leiomyosarcoma of the glans penis is reported.

Primary metastatic neuroendocrine small cell bladder cancer: a case report and literature review.

Small cell carcinoma of the urinary bladder (SCCUB) is a rare variant of neuroendocrine nonepithelial tumor. Clinically, SCCUB appears like a flat or ulcerated lesion and microscopically can cause microvascular invasion and necrosis. Small cell cancer, rarely found in the urogenital tract in a primitive form, usually coexists with urothelial bladder cancers. It has an incidence of 0.35-0.7% of all bladder neoplasms and survival at 5 years is estimated to be around 8%. A 60-year-old man who was a smoker was referred to our department with episodes of gross hematuria and pain in the lumbar region. After an extensive transurethral resection of the bladder, including of the muscular layer, the diagnosis of small cell carcinoma of the bladder was made. The neoplastic cells were positive with immunohistochemical staining for chromogranin A, paranuclear reactivity to cytokeratin and neuron-specific enolase. A total-body CT scan revealed lymph node involvement and hepatic, adrenal and lung metastases. Because of the advanced stage it was decided to avoid radical cystectomy and perform chemotherapy. The patient underwent two different cycles of cisplatin chemotherapy following international recommendations, but unfortunately without any response. After palliative therapy, the patient died in January 2010.

A large vascular leiomyoma of the leg.

A 69-year-old woman with a subcutaneous, large vascular leiomyoma of the leg is presented. The patient had a painful, slow-growing, right medial malleolus mass. Clinical symptoms, US images and histopathologic features are reported. Vascular leiomyoma should be included in the differential diagnosis of painful, lower extremity subcutaneous masses also in lesions of larger dimensions.

Papillary thyroid cancer in a young woman affected by giant congenital melanocytic nevus, ultrasound diagnosis.

Data literatures report numerous association between giant congenital nevus and development alteration; only two cases describe its coexistence with thyroid disorders. However, we report the association of papillary thyroid cancer and giant congenital nevus. Papillary thyroid cancer is the most common differentiated thyroid cancer and has high prevalence in young women. In this paper we report: the case of a 18 years-old woman, affected by giant congenital melanocytic nevus on her back, who came to our observation because of one month of fever and increased volume of latero-cervical lymph nodes. Negative serologic tests allowed us to exclude lymphoma and mononucleosis. Because of the high risk (6%) that giant congenital melanocytic nevi could transform into malignant melanoma, we performed an ultrasound examination (US) of the cervical lymph nodes. The examination extended to the thyroid gland enabled us to visualize the same parenchyma alteration in both thyroid gland and lymph nodes. At last, fine-needle percoutaneus aspiration on thyroid lesion confirmed the presence of papillary carcinoma. In our case, thank to the optimal visualization of the parenchyma structure, US was diriment allowing a diagnosis of primitive thyroid lesion with an involvement of all lymph nodes in the neck. This findings legitimate the role of US as an accurate, noninvasive, radiation free and low-cost imaging technique in detecting differential diagnosis in the cervical lymphadenopathy, as well in preoperative staging thyroid carcinoma.

[Gastrointestinal opportunistic infections and human immunodeficiency virus (HIV). Case report]. / Infezioni opprtuniste gastrointestinali e HIV. Caso clinico.

There have been millions of people found to have AIDS. Death rates from AIDS have declined 15% to 20% in the past 5 years. However, nearly 75000 people will die with AIDS in this year. Patients with AIDS are also at risk for developing both Aids-defining cancers, such as Kaposi's sarcoma and non-Hodgkin lymphoma, and non-Aids-defining cancers and opportunistic infections. In patients with advanced Aids, the Cytomegalovirus is a frequent cause of chorioretinitis, pneumonitis, chronic perineal ulcerations and oesophagitis. It has been involved in endocrine, bone marrow, central nervous system and kidney abnormalities. CMV infection of the small bowel accounts for only 4.3% of all cytomegalovirus infection of the GI tract (large bowel 47%, duodenum 21,7%, stomach 17,4%); isolated cases of small bowel perforation due to CMV have been reported in AIDS patients, and all but one patient died. The Authors report a rare case of an HIV-positive young man with gastroenteric Cytomegalovirus infection responsible for generalized peritonitis from multiple perforations.

Detection of Chlamydia pneumoniae in atherosclerotic coronary arteries.

Chlamydia pneumoniae has recently been associated with the development of coronary heart diseases by sero-epidemiological studies and by direct detection of the organism in atherosclerotic tissues. The aim of our study was to employ a semi-nested PCR approach to investigate the presence of C. pneumoniae in both normal and atherosclerotic coronary arteries of humans obtained at autopsy. Moreover, we have evaluated the role of infection with C. pneumoniae in relation to the extent of coronary atherosclerosis. One hundred and eighty coronary artery specimens were collected at autopsy from 60 consecutive subjects (three arterial segments from each subject). Atherosclerosis in each arterial segment was graded histologically by the Stary classification. Thirty normal coronary arteries were also taken at autopsy as control. PCR results evidenced the presence of C. pneumoniae DNA in atherosclerotic coronary arteries in 19 (31.7%) of 60 subjects examined, while none of the 30 subjects with non-atherosclerotic tissues was positive (p=0.001). Moreover, of the 180 atherosclerotic specimens examined, C. pneumoniae DNA was detected in 3.4% (2/59) of mild atherosclerotic lesions, and in 14.0% (17/121) of advanced atherosclerotic lesions (p=0.05). Our results demonstrate that the presence of C. pneumoniae DNA may be associated with the severity of coronary atherosclerosis.

[Changes in the expression of cellular alpha and beta tubulins in patients with sporadic type colorectal cancer]. / Alterazione della espressione delle tubuline cellulari alfa e beta in pazienti affetti da cancro colorettale di tipo sporadico.

The aim of this preliminar report is to evaluate alfa and beta tubulins, components of cellular microtubules, alterated expression in sporadic colorectal cancer patients. The Authors considered 16 patients who underwent surgery for sporadic colorectal carcinoma with radical intent. Alfa and beta tubulins were evaluated in tumoral mucosa by immunohistochemistry. In 56.2% of the examined patients a low expression of alfa and beta tubulins was showed while the alteration of alfa tubulin was showed in 81.2% of the patients. This finding supports the hypothesis of Porter that alterations in microtubule structure might be part of the cellular response to DNA damage.

[Fractal analysis of liver fibrosis]. / Analisi frattale della fibrosi epatica.

This study realized by two different study groups use of Fractal geometry to quantify the complex collagen deposition during chronic liver disease. Thirty standard needle liver biopsy specimens were obtained from patients with chronic HCV-related disease. Three mu-thick sections were cut and stained by means of Picrosirius stain, in order to visualise collagen matrix. The degree of fibrosis was measured using a quantitative scoring system based on the computer-assisted evaluation of the fractal dimension of the deposited collagen surface. The obtained results by both study groups, show that the proposed method is reproducible, rapid and inexpensive. The complex distribution of its collagenous components can be quantified using a single numerical score. This study demonstrated that it is possible to quantify the collagen's irregularity in an objective manner, and that the study of the fractal properties of the collagen shapes is likely to reveal more about its structure and the complex behaviour of its development.

[Small bowel stromal tumors in a "meckelian" location. About a clinical observation]. / I tumori stromali del tenue a localizzazione meckeliana. A proposito di un'osservazione clinica.

The Meckels divetriculum has a prevalence of the 0.3-3%. It is surgically removed only when arise a complication or a neoplasia. The Meckels diverticulum tumors are unfrequent and observed in only the 0.5-3.2% of the Meckels diverticula. The 12% of these tumors are a GIST. We report a case of a gastrointestinal stromal tumor with neural immunophenotype, observed in a patient presenting a deep venous thrombosis perhaps with a paraneoplastic origin. We also report some observations about the state of the art about the GIST management and particularly of all of them arising in a Meckels diverticulum.

NM23 expression as prognostic factor in colorectal carcinoma.

BACKGROUND: The current most important prognostic indicator in colorectal carcinoma is tumor stage at the moment of diagnosis. The role of NM23 gene as prognostic factor is controversial. The aim of this study was to investigate NM23 expression. PATIENTS AND METHODS: The study population included 104 unselected patients who underwent surgery for colorectal carcinoma between 1992 and 1997. NM23 expression was quantified by estimating the percentage of tumor cells with unequivocal reactivity. The percentage was scored: 0 when no tumor cells showed immunoreactivity; 1 when less than 10% of cells showed immunoreactivity; 2 when 11-50% of cells were positive; 3 when more than 51% of cells were positive. RESULTS: Four cases belonged to group 0.21 to group 1.55 to group 2 and 24 to group 3. CONCLUSION: NM23 cannot be considered an independent prognostic variable.

[Prognostic markers of the epithelial tumors of the large intestine]. / Indicatori prognostici della patologia tumorale di tipo epiteliale del grosso intestino.

The surgical treatment of large bowel malignant tumors is now the most important therapeutic approach. The aim of our study was to evaluate a possible prognostic implication of ploidy and NM23 expression. The study includes 120 non selected patients who underwent surgery for colorectal cancer. The analysis of ploidy was obtained with cytometric test. The cases with only one gaff G0/G1 were considered as diploid. Patteras with more than one aneuploidic population were classified as multiploidic or poliploidic. While NM23 expression was evaluated with a double blind retrospective study by two separate equipe of authors in different centres. NM23 positivity degree was classified in 3 classes: absent or weak if < 10%; moderate if 10-50%; strong if > 50%. Forty-two patients (35%) were classified as diploidic; 30 patients (25%) as aneuploidic; 40 patients (33.2%) as multiploidic; in 8 cases (6.7%) the material was inadequate. Among the two groups who evaluated NM23 expression the group I a positivity: absent or weak in 32 cases (26.7%); moderate in 62 cases (51.7%); strong in 26 cases (21.6%); while the group II shows positivity: absent or weak in 30 cases (25%); moderate in 52 cases (43.3%); strong in 38 cases (31.7%). We cannot consider ploidy and the NM23 research as independent prognostic factor.

[Genetics-based prognosis evaluation of patients surgically treated for sporadic colorectal cancer]. / Valutazione prognostica su base genetica di pazienti operati per cancro colorettale di tipo sporadico.

The basic assumption as rationale of this research was that DNA repair genes (MMR system) are at beginning of the genetic mutational cascade causing the induction of oncogenesis of sporadic colorectal cancers as well as their multiclonal heterogeneity. In a previous study the Authors randomly selected, from a series of 256 patients, 29 patients up to the age of 60 years who underwent surgery for colorectal carcinoma with radical intent. All selected cases were considered as sporadic cancers from a clinical point of view, since none of them fulfilled the Amsterdam criteria for HNPCC and familial adenomatous polyposis was included too. Mismatch repair gene proteins expression and, in particular, gene hMSH2 protein was investigated by immunohistochemistry analysis. In 12 cases (41.4%) hMSH2 exhibited strong expression in the tumoral cells as well as in the surrounding mucosa and at distant mucosa. In 14 cases (48.3%) loss of hMSH2 protein expression was observed in tumoral cells and low immunoreactivity was detected in peritumoral mucosa while strong hMSH2 expression was observed in distant mucosa. In a third small group of patients (10.3%) loss of hMSH2 protein expression was detected in tumoral, adjacent and at distance normal mucosa. After a five years follow up, 100% of twelve patients of first group are still alive vs 64.3% of fourteen patients of second group, while in the third group only one patient survives. These results support the hypothesis of an involvement of hMSH2 gene defect in development of a subset of sporadic colorectal cancer. For the patients with strong expression of hMSH2 in the tumoral cells as well as in the surrounding mucosa and at distant mucosa, this parameter could represent an independent criterion for a good prognostic value.

Benign tumors of heterotopic tissue in the thyroid gland: a report of two cases of lipomatous lesions.

A report of two cases, concerning heterotopic nests of fat cells in the thyroid gland, is presented here together with a review of lipomatous lesions in the literature. Both cases involved patients who presented with goiter; one had Grave's disease and the other had adenomatous hyperplasia. The fat cells were principally located in the subcapsular areas and scattered among the follicles. The distribution of the immunohistochemical staining, and the morphologic characteristics of the adipose tissue, suggested a probable origin of the fat cells from inclusion nests during embryogenesis of the thyroid gland.