Relaxation of imprinting of IGFII gene in juvenile nasopharyngeal angiofibromas.

IGFII and H19 genes are expressed only from one allele due to genomic imprinting, biallelic expression (loss of imprinting) being associated with the tumorigenic process of different types of tumors. The mechanism responsible for genomic imprinting is not yet determined, although DNA methylation has been considered the main genetic event for an imprinted mark. In the current study, the authors analyzed the imprinting status and expression levels of the IGFII and H19 genes in 27 cases of Juvenile Nasopharyngeal Angiofibroma (JNA) using RFLPs, RT-PCR, and Southern and Northern Blots. The authors found that four out of eight informative cases (50%) for ApaI/IFGII polymorphism showed biallelic expression of IFGII whereas none of the nine informative cases for the polymorphism showed biallelic expression of the H19 gene. Overexpression of IFGII was observed in 8 out of 22 cases (36.4%), and 7 out of 19 cases (36.8%) showed H19 overexpression. Hypomethylation was found only in the H19 gene in six out of eight cases analyzed. Therefore, our results demonstrate that alterations in the IFGII/H19 imprinted region occur in JNA.     

Sarcomatoid carcinoma of the urinary tract

Sarcomatoid carcinoma is a rare variant of malignant tumor arising from the urinary tract. This tumor had been termed carcinosarcoma because of its carcinomatous and sarcomatous components. There is still some confusion in the terminology between true carcinosarcoma and sarcomatoid carcinoma; however, the latter is now regarded as primarily a malignant epithelial tumor with pseudosarcomatous transformation.
Four cases of sarcomatoid carcinoma arising from the urinary tract are reported. The patients were a 77 year old female, and three males aged 62, 69 and 80 years. All but the eldest patient complained of gross hematurla. Surgical removal was performed in the younger three cases, and an autopsy was done in the remaining case. All the tumors were macroscopically polypoid. Histopathologic examination revealed fasciculated spindle-cell tumors with myxold stroma or malignant fibrous histiocytoma-like spindle cell tumors. The epithelial nature was proven in these sarcomatous cells by immunohistochemical andlor electron-microscopic examinations. Only a small amount of squamous cell carcinoma components was also evident in the latter three cases. Although the younger three patients were alive at 44, 23 and 39 months'follow-up, respectively, constant careful monitoring Is recommended.     

Use of the Silvermann-Franklin biopsy needle for the diagnosis of intra-sinusal lesions, especially of the maxillary sinus

This report proposes the use of a new technique in the diagnosis of pathology of the maxillary sinus, including neoplasm, using the Silvermann-Franklin" needle. The procedure consists of approaching the diseased sinus through the canine, as in conventional biopsies, with the removal of fragments using forceps. Ten patients with an X-ray suggesting a mass in the maxillary sinus were studied. An 80% correlation was found between the anatomical and pathological findings of the biopsy and the subsequent surgical findings. The advantages of this method include the low risk, performance under local anaesthetic in an out-patient mode, the possibility of obtaining the diagnosis prior to surgery, and the possibility of obtaining deep-seated tissue fragments.     

Primary non-Hodgkin's lymphoma of the frontal sinus: case report and review of the literature

Non-Hodgkin's lymphoma of the sinonasal tract is an uncommon lesion, representing 1.5 to 15% of all lymphomas. Most cases of primary non-Hodgkin's lymphoma of the sinonasal tract occur in the maxillary sinus, ethmoid sinus, and nasal cavity; its occurrence in the frontal sinus is extremely rare. We report a case of primary type B non-Hodgkin's lymphoma of the frontal sinus in a 43-year-old man. The patient complained of frontal headaches that had not improved with analgesic drugs, and he presented with a frontal bulge that involved the left upper eyelid; the bulge had progressively enlarged over a 3-month period A biopsy of the mass identified the type B non-Hodgkin's lymphoma. Immunohistochemical study not only confirmed the histologic type of the tumor, it also provided some important information about the primary tumor site. Advances in immunohistochemistry have shown that type B non-Hodgkin's lymphoma is more common in North American and European patients, whereas subtype T is more common in Asians and in some Latin Americans. The treatment of this condition is still controversial, but the combination of radiotherapy and chemotherapy has yielded the best results in all stages of the disease.     

Prevalence of celiac disease in Brazilian children and adolescents with type 1 diabetes mellitus

OBJECTIVE: A previously unrecognized high prevalence of celiac disease (CD) has been found by screening among European and North American patients with type 1 diabetes mellitus (DM 1). The prevalence of CD among Brazilian children with DM1 is not known. This study was conducted to determine the prevalence of CD in Brazilian children and adolescents with DM 1. METHODS: One hundred and four children and adolescents with DM 1 (52 males and 52 females; age range 22 months - 19 years) and 105 age and gender-matched control participants were screened for CD using the IgA anti-endomysial antibody test (IgA-EmA) and total serum IgA. A small bowel biopsy was performed in all patients with positive IgA-EmA. RESULTS: Nine of 104 diabetic patients (8.7%) had a positive IgA-EmA. Biopsies were normal in four patients, two had partial or subtotal villous atrophy with elevated intraepithelial lymphocyte (IEL) counts, and three showed partial villous atrophy but with IEL counts under the maximum limit adopted (40 IEL/100 enterocytes). EmA-IgA positive patients had mild, non-specific gastrointestinal complaints including dyspepsia, abdominal pain, flatulence and constipation. All control participants had negative results for IgA-EmA. CONCLUSION: The prevalence of CD in a group of Brazilian pediatric DM 1 patients was at least 4.8%, a prevalence comparable to European and North American studies. The high prevalence of CD among DM 1 emphasizes the need for routine screening in all countries including Brazil.     

Sphenochoanal polyp: diagnose and treatment

Choanal polyps (CP) are benign mucous tumours that usually originate in the mucosa of the maxillary sinus, and hence are termed antrochoanal polyps. CP rarely originates in the mucosa of other nasal structures and paranasal sinuses. The purpose of this brief clinical communication is to present six cases of CP originating in the sphenoidal sinus and termed sphenochoanal polyps (SCP).     

A Dose-Response Model for the Conventional Phototherapy of the Newborn

Jaundice of the newborn is a common problem as a consequence of the rapid increment of blood bilirubin in the first days of live. In most cases, it is considered a physiological transient situation, but unmanaged hyperbilirubinemia can lead to death or serious injuries for the survivors. For decades, phototherapy has been used as the main method for prevention and treatment of hyperbilirubinaemia of the newborn. This work aims at finding a predictive model for the decrement of blood bilirubin for patients submitted to conventional phototherapy. Data from the phototherapy of 90 term newborns were collected and used in a multiple regression method. A rigorous statistical analysis was done in order to guarantee a correct and valid model. The obtained model was able to explain 78% of the variation of the dependent variable. We show that it is possible to predict the total serum bilirubin of the patient under conventional phototherapy by knowing its birth weight, bilirubin level at the beginning of treatment and the radiant energy density (dose). Besides, it is possible to infer the time necessary for a given decrement of bilirubin, under approximately constant irradiance. Statistical analysis of the obtained model shows that it is valid for several ranges of birth weight, initial bilirubin level, and radiant energy density. It is expected that the proposed model can be useful in the clinical management of hyperbilirubinemia of the newborn.     

Ear and nose foreign body removal in children

The removal of foreign bodies in children is very common in the otolaryngologist's daily routine. We present a prospective series of 187 cases of ear and nose foreign bodies removed from children aged 0-12 years old in a 6-month period--95 females (50.8%) and 92 males (49.2%); 78 children (41.71%) aged from 1 to 2 years, 66 (35.29%) from 3 to 5 years. There were 93 cases (49.73%) of ear foreign bodies, in which a bean was the most common (24.73%), and 94 cases (50.27%) of nose foreign bodies, in which sponge fragments predominated (36.17%). In 82 cases (45.85%), the removal was performed within the first 24 h after the foreign body insertion, and 86 (45.98%) of the patients had previous attempts to remove it. Thirteen cases with complications (external ear canal lacerations, tympanic membrane perforation) were observed in patients in whom these previous attempts had been made, but there were no sequelae. This corresponds to one of the largest reports of ear and nose foreign body removal in children in the literature; we conclude that younger children are more prone to insert foreign bodies, which are objects usually found at home. Complications may occur as a result of attempts to remove the foreign body without the help of specialised personnel or proper conditions.