Correlations between CD34 Immunolabelled Blood Vessels and CD34 mRNA Expression in Colorectal Cancer.

PURPOSE: This study aims to determine the correlation between microvessel density of CD34 immunolabelled blood vessels and CD34 mRNA gene expression in colorectal cancer tissue. MATERIAL/METHODS: Standard immunohistochemistry and gene expression was perform on samples collected from 76 patients with colorectal cancer in order to determinate the number of CD34 immunolabelled blood vessels and the relative quantity of CD34 mRNA. RESULTS: For the study group, the mean CD34 immunolabelled microvascular density (MVD) was of 307/mm2, and the mean CD34 gene expression value for colon cancer was 2.303. The low p value (<0.001) of the Spearman correlation test showed a significant direct correlation between CD34 MVD and CD34 gene expression for the entire study group. CONCLUSIONS: CD34 gene`s expression can be looked at as a prognostic factor in colorectal cancer.

Analysis of prognostic factors in colorectal carcinoma.

UNLABELLED: Colorectal cancer is one of the most common malignancies in development countries. The purpose of this study was to analyze the epidemiologic profiles of the disease, to examine the results of survival at five years after diagnosis and how it was influenced by pathological aspects. MATERIAL AND METHODS: In collaboration with Oncologic Clinic all colorectal cancer diagnosed from January 2002 to December 2006 were included in the study. Medical records of patients were retrieved and we note: age, residence, diagnosis date, grade, and stage and histology variables. Then were analyzed prognosis and survival at 5 years of patients related to these parameters. RESULTS: A total of 238 patients with colorectal cancer were identified. The average age at diagnosis was 63.3 years and more than half of cases were men (59%). By the end of the follow-up period 103 patients had died, 66.1% of them representing colon cancer. When analyzing the survival length according to tumor location at the end of the study, we found that are no significant differences between survivals in colic tumors compared to the rectum--53.9 months for right colon, 51.4 months for left colon and 49.5 months for rectum. The majority of tumors were grade II moderately-differentiated tumors 48.7% (116 of cases), and patients with grade I had the best survival, on average of 84.52 months. Tubular forms of colorectal cancer had the best percentage of five years survival (55.81%) being also the highest rate of survival (45.24% months). CONCLUSION: Factors that contribute to a favorable prognosis in colorectal cancer are tubular microscopic form, disease diagnosed in TNM stage I and II, GI and GII grading.

Determination of iNOS-2087A>G Polymorphism in Acute Pancreatitis Patients.

PURPOSE: To determine whether single nucleotide polymorphism (SNP) of inducible nitric oxide synthase (iNOS) is involved in susceptibility for acute pancreatitis. MATERIAL AND METHODS: Genomic DNA was extracted from blood samples collected from cases of acute pancreatitis (n=110) and normal population controls frequency matched for age and sex (n=232). iNOS - 2087A>G polymorphism was genotyped using TaqMan allelic discrimination assays. The association of the genetic polymorphism with clinical and pathological data of the patients was evaluated. RESULTS: We have found no significant statistical association between this polymorphism and an increased risk of developing acute pancreatitis. CONCLUSION: In Romanian population, the risk of developing acute pancreatitis is not increased by the presence of iNOS-2087A>G polymorphism.

The importance of full tests of incidentally detected premalignant lesions.

Early detection of asymptomatic phase or paraneoplastic manifestations in precancerous lesions and an early, correct and accurate diagnosis in terms of pathology of the lesion in question, makes important chances of healing and prolonged patient's life expectations. We present the case of a young patient who came to the emergency room and then admitted in the cardiology department with a heart rhythm disorder. The medical investigations that followed (gastric endoscopy, biopsy, histological and IHC exams), finds gastric polyps, which proved to be gastrointestinal stromal tumors (GIST).

Dowling-Degos disease.

Dowling-Degos disease (DDD) is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedone-like lesions and pitted scars. The diagnosis includes acanthosis nigricans as well as other reticulate pigmentary disorders classified into: dyschromatrosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH) and reticulate acropigmentation of Kitamura (RAPK). We present a 35-year-old woman, which presented with flexural hyperpigmentation considerate as acanthosis nigricans. At a close clinical and histopathological examination, we obtained sure data for Dowling-Degos disease, with a possible familial history of this disease in her son. We review the literature data concerning this disease.

Tuberous sclerosis complex: report of two intrafamilial cases, both in mother and daughter.

Tuberous sclerosis complex (TSC) is a multisystem syndrome characterized by neurological symptoms and tumors in multiple organs including kidney, brain, skin, eyes, heart and lung. Kidney and brain are the two most frequently affected organs in TSC. TSC is an autosomal disorder with extensive clinical variability. We described TSC in a family at a mother and her daughter. We emphasized the importance of Computed Tomography in the discovery of some asymptomatic organic involvement as bilateral renal angiolipoma in the mother.

Type Ib indolent mastocytosis with systemic involvement: cutaneous mastocytosis and gastrointestinal involvement at young girl.

A 21-year-old young girl presents with intense abdominal pain, nausea, diarrhea in the context of a cutaneous eruption formed by erythematous and papulous elements with brown violet aspect, very pruriginous, occasioned by the preparation of some fishmeal. Similar eruption debuted from childhood from the age of 4 year became rare with age. Since 3 years, the patient presents more intense digestive manifestation. The therapy with H2 antagonist (loratadine) and a mast cell stabilizer is beneficial over the digestive symptoms and in the same time cancel the pruritus and the erythema of the cutaneous lesions that remain hyperpigmented. The histopathological examination of a cutaneous lesion confirms the diagnosis of mastocytosis and the endoscopic examination discovers a duodenal ulcer and an erosive gastritis. The systemic mastocytosis is a rare disease, often associated with an urticaria pigmentosa, with difficult diagnosis in his absence. That's why, in patients with macular or nodular pigmented cutaneous lesions appeared in infancy and early childhood and which urticate in a characteristic manner when the skin is firmly rubbed, a cutaneous biopsy is necessary.

Sjögren's syndrome associated with chronic hepatitis C - the benefit of the antiviral treatment.

Chronic hepatitis C virus infection (CHCV) has high prevalence of immunological abnormalities. Extrahepatic manifestations (EHM) have been reported in association with CHCV infection, whose heterogeneity makes difficult any correlation between the two disorders. Among extrahepatic symptoms of C virus hepatitis, sicca syndrome is also registered. Sjögren's or sicca syndrome (SS) is a chronic, slowly progressive disease, with inflammatory-immune mediation characterized by lymphocytic infiltration of the lachrymal and salivary glands. A distinct primary form and a secondary one, occurring when presented in the context of an autoimmune or hepatic disease have been described. We present a case of SS in a patient with CHCV, commenting a possible link between primary SS and the CHCV, as well as the similarities and the distinctions among these conditions. Our conclusion is that CHCV can induce SS with some clinical particularities like presence of pericapillary and not pericanalicular lymphocytic infiltrate without destroying the salivary glands, in the absence of SS-A/SS-B antibodies. The favorable evolution of SS under IFN therapy is an argument for an authentic relation. Further studies are necessary to determine if CHCV is an etiological agent of SS or of it can induce a pseudo-sicca syndrome, characterized by a simple glandular inflammation consisting mainly in a simple lymphocytic adenitis.

Peutz-Jeghers syndrome: case report and literature review.

Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later. Round, oval or irregular patches of brown or almost black pigmentation 1 to 5 mm diameter, irregularly distributed over the oral mucosa, gums, hard palate and lips (especially the lower) are observed. The pigmented maculae on the face, encountered especially around the nose and mouth are smaller. Polyps may appear in the stomach, small bowel or colon, with hamartomatous aspects on histology. Acute upper gastrointestinal bleeding and chronic fecal blood loss may appear during the course of disease. There is a higher risk of intestinal and extraintestinal cancers in those patients. We present the case of an 18-year-old young girl accusing since the age of 3 slight intermittent episodes of bloating and abdominal pain without a particular localization, as well as mild iron-deficiency anemia. Physical examination revealed pigmented lesions suggesting PSJ on the palatine and jugal mucosa while endoscopy found a lot of polyps in stomach and a few, isolated in the colon, all having the same hamartomatous pattern. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips, buccal mucosa and perioral skin, should alert the clinician to PJS.

Bone abnormalities occurring in the follow-up of the patients with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterized by multiple neurofibromas, "café au lait" spots and Lisch nodules of the iris with a variable clinical expression. Osseous anomalies appeared in the patients with NF1 including dysplasia, scoliosis and pseudoarthrosis. We propose a research of the osseous involvement at 11 patients, seven female and four male with ages from 9 to 60 at which the cutaneous aspect has the complete form, hyperpigmented spots and cutaneous neurofibromas and only more than six "café au lait" spots. All the patients suffered radiological exams, CT- and MRI-scan. The results were different from case to case from the extreme severe deformations, especially at the children, to clinical unapparent osseous involvement, incidental found or with occasion of our investigation. CONCLUSIONS. The patients with NF1 has osseous abnormalities specific of the disease, like dysplasia, scoliosis, pseudoarthrosis, often gentle but sometimes extremely severe. The most severe osseous involvement are presented in the cases when these development early in the childhood. Other times the osseous abnormalities are clinical asymptomatic, their finding been clinical incidental. We want to have a separate mention for the maxillary and mandible involvement, which according to our information is not a rare form.

Portal cavernomatous transformation leading to variceal hemorrhage in Sturge-Webber syndrome. A rare, but possible association.

UNLABELLED: Sturge-Weber syndrome is a rare disorder consisting of a port-wine nevus in the distribution of the ophthalmic branch of the trigeminal nerve and central nervous system malformations. Facial cutaneous vascular malformation, seizures, and glaucoma are among the most common symptoms and signs. The syndrome results from malformation of the cerebral vasculature located within the pia mater, most commonly over the occipital region. These malformations led to venous hypertension and subsequent hypoperfusion on the underlying cortex, causing chronic cerebral ischemia, atrophy, calcification and neurological deterioration. We describe 18-years-old young girl hospitalized for upper digestive hemorrhage that revealed a cavernomatous transformation of portal vein. At the same time, she presents extensive congenital, bilateral port wine stains on the face, epilepsy and glaucoma of the right eye. Computer tomography showed intracranial vascular abnormalities with calcifications, particularly in the right occipital lobe. The clinical presentation and imagistic assessment confirmed the diagnosis of Sturge-Weber syndrome associated with upper non-cirrhotic portal hypertension generated by a malformation of portal vein. CONCLUSIONS: Upper digestive hemorrhage is a quite rare eventuality in the Sturge-Webber syndrome. Moreover, portal tract malformations with cavernomatous transformation are exceptionally cited in the literature. Despite this rare association, abdominal investigation, as well as computed cranial tomography should be performed in all cases of children that present a facial cutaneous vascular malformation.

Lymphangioma of the oral cavity.

UNLABELLED: Lymphangiomas are uncommon congenital hamartomas of the lymphatic system, usually diagnosed in infancy and early childhood. Commonly located at head and neck, they are rarely situated in the oral cavity. Preferred site of oral involvement is the tongue. In the absence of proper therapy, lymphangiomas of the tongue are extremely recurrent, leading to serious complications such as hemorrhage or obstruction of the upper respiratory airways. The authors present the case of eleven years old boy with pseudo-vesicles, and smooth, glossy lesions on the tongue, and a red prominent pulsative sublingual mass located at the base of the tongue. Both the macroscopic structure and the histological aspect sustain the diagnosis of lymphangioma. CT established that is a profound lymphangioma with a narrow communication with the superficial planes. CONCLUSIONS: Though rarely met in the oral cavity, lymphangiomas are an eventuality to take into consideration by the clinician. Early recognition is of utmost importance to initiation of proper treatment, and avoiding serious complication.