Association of EGFR c.2073A>T polymorphism with decreased risk of diffusely infiltrating astrocytoma in a Brazilian case-control study.

Epidermal growth factor receptor (EGFR) gene overexpression has been implicated in the development of many types of tumors, including glioblastomas, the most frequent diffusely infiltrating astrocytomas. However, little is known about the influence of the polymorphisms of EGFR on EGFR production and/or activity, possibly modulating the susceptibility to astrocytomas. This study aimed to examine the association of two EGFR promoter polymorphisms (c.-191C>A and c.-216G>T) and the c.2073A>T polymorphism located in exon 16 with susceptibility to astrocytomas, EGFR gene expression and survival in a case-control study of 193 astrocytoma patients and 200 cancer-free controls. We found that the variant TT genotype of the EGFR c.2073A>T polymorphism was associated with a significantly decreased risk of astrocytoma when compared with the AA genotype [sex- and age-adjusted odds ratio 0.51, 95% confidence interval 0.26-0.98]. No association of the two promoter EGFR polymorphisms (or combinations of these polymorphisms) and risk of astrocytomas, EGFR expression or survival was found. Our findings suggest that modulation of the EGFR c.2073A>T polymorphism could play a role in future therapeutic approaches to astrocytoma.

Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment.

We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and (1)H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.

Association of TP53 mutation, p53 overexpression, and p53 codon 72 polymorphism with susceptibility to apoptosis in adult patients with diffuse astrocytomas.

Clarification of TP53 alterations is important to understand the mechanisms underlying the development of diffuse astrocytomas. It has been suggested that the alleles of TP53 at codon 72 differ in their ability to induce apoptosis in human cancers. The aim of this study was to analyze the possible association of TP53 mutation, p53 overexpression, and p53 codon 72 polymorphism with susceptibility to apoptosis in adult Brazilian patients with diffuse astrocytomas. We analyzed 56 surgical specimens of diffuse astrocytomas for alterations of TP53, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) direct sequencing. p53 and cleaved caspase 3 protein expression were assessed by immunohistochemistry. We found TP53 mutations in 19.6% (11 out of 56) of tumors tested, with the lowest mutation rate found in the cases of glioblastomas (8.8%) (p = 0.03). Only 16.1% of tumors tested showed cleaved caspase 3-positive staining, demonstrating that apoptosis is very inhibited in these tumors. All tumors having TP53 mutation and p53 accumulation had no expression of cleaved caspase 3. Additionally, no association was observed in tumors having proline and arginine alleles and expression of cleaved caspase 3. We concluded that clarification of the TP53 alterations allows a better understanding of the mechanisms involved in the progression of diffuse astrocytomas, and the allele status at codon 72 was not associated with apoptosis in these tumors.

Fatal meningoencephalitis caused by reactivation of Trypanosoma cruzi infection in a patient with AIDS.

We report a case of fatal chagasic meningoencephalitis in an AIDS patient. Acute exacerbation of chronic Chagas' disease with involvement of the CNS is uncommon and occurs only in immunocompromised patients. This is the third such reported reactivation and it underscores the importance of considering Chagas' disease in HIV-positive patients from endemic regions.

Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract.

We report on a 19-month-old girl with chondroectodermal dysplasia (Ellis-van Creveld) and other previously undescribed visceral and central nervous system anomalies. These anomalies include cerebral heterotopias, renal agenesis, and congenital megaureter.

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well-documented cases of this apparently autosomal recessive disorder and discuss the differential diagnosis.

Fatal encephalopathy due to Lagochilascaris minor infection.

A 14-year-old boy with a tetralogy of Fallot showed a subacute, progressive encephalopathy characterized by headache, stupor and coma. Death occurred three months after the beginning of the illness. Neuropathologic examination revealed diffuse foci of necrosis of the cerebral hemispheres and cerebellum, and the presence of the nematode Lagochilascaris minor in the parenchyma and in the cisterns at the base of the brain. In almost all 28 cases of human lagochilascaris previously reported, the worms were located in the soft tissues of the neck and throat, tonsils, mastoids and paranasal sinuses. This is the first reported case in which Lagochilascaris infected the brain. Since the life cycle of the worm is unknown the pathogenesis of the central nervous system lesions is obscure.

Some guidelines in use of lasers in renal surgery.

Some guidelines for the use of lasers in renal surgery are presented. The carbon dioxide laser was successfully used in 9 patients with diverse renal pathology (staghorn calculus, 4 patients; renal tumor, 3 patients; congenital arteriovenous (A-V) fistula, 1 patient; segmental chronic atrophic pyelonephritis, 1 patient) as an excisional tool, allowing us to reduce intraoperative blood loss, decrease operating time, and preserve the functional integrity on the remaining renal segment. This modality appears to be a safe addition to the urologic armamentarium, when used as an excisional tool in renal surgery.

Sexually transmitted papillomaviral infections: III. Management of male partner.

The treatment of 199 males afflicted with sexually transmitted papillomaviral infections has shown that to be successful, periodic and prolonged follow-up is necessary to detect recurrent disease. Results of superficial epidermectomy using a battery-powered eye cautery in 49 cases with a few clusters confined to the shaft showed a 40 per cent recurrence rate. The carbon dioxide (CO2) laser was successful in eradicating 75 to 82 per cent of the cases presenting with extensive subclinical and exophytic disease. Meatal as well as perianal infection responded adequately to a single vaporization, using power densities ranging from 200-500 W/cm2 in 98 per cent and 78 per cent of the cases, respectively. Scrotal disease was best managed by the topical application of 5-fluorourocil with a cure rate of 82 per cent and in 36 per cent (17 cases) spontaneous disappearance with a faint acetowhite stain suggesting an abortive type of infection. It is apparent that to be effective the successful treatment of papillomaviral infections in the male must rely on periodic and prolonged follow-up to detect recurrent disease, and must include different treatment modalities to be used in accordance with clinical presentation and anatomic location of the disease.

Clinical experience with carbon dioxide laser in renal surgery.

Our clinical experience in renal surgery utilizing the CO2 laser is presented. The inherent characteristics of precision and hemostasis of this modality were found to be useful in the performance of three anatrophic nephrolithotomies and three partial nephrectomies. Operative time ranged between 110 and 120 minutes, with an average estimated blood loss of 160 cc per case. Surgery on the kidney parenchyma with CO2 laser appears to be a safe and effective modality, reducing blood loss, shortening operative time, and preserving functional integrity on remaining renal tissue.

Subclinical papilloma viral infection of male genitalia.

One hundred male patients with a history of genital condylomata were evaluated by the use of 3% acetic acid staining of their external genitalia. In 36 per cent positive aceto-white areas were discovered on the shaft of the penis (flat condylomata), and a 35 per cent meatal-urethral involvement, suggesting that flat and exophytic condylomata of the shaft and urethra are the most logical reservoir for transmitting the HPV infection to the female genitourinary tract.

Carbon dioxide laser treatment of external genital lesions.

Our entire clinical experience with the use of carbon dioxide (CO2) laser in the treatment of 67 patients with diverse external genital lesions is presented. Successful eradication was accomplished in 61 patients with wide distribution of condylomatous lesions, with 88 per cent responding to a single laser treatment. Excellent cosmetic results, as well as complete disappearance of balanitis xerotica obliterans and erythroplasia of Queyrat, were observed in 5 additional patients. Laser therapy, although not an established treatment option, appears to be a safe alternative and should be considered in those patients with recurrent genital condylomata, balanitis xerotica obliterans, as well as erythroplasia of Queyrat, not responding to well-known treatment modalities.

Further clinical experience with CO2 laser in microsurgical vasovasostomy.

Herein are reported the results obtained in 14 patients with the performance of vasovasostomy by carbon dioxide (CO2) laser. Fusion coagulation of the vas wall was successfully accomplished as demonstrated by postoperative sperm counts of over 20 million/mL in 86 per cent of the patients, and a pregnancy rate of 43 per cent in the group of patients operated on within less than ten years of original vasectomy. In contrast, those patients undergoing vasovasostomy ten years after original vasectomy had sperm counts of over 20 million/mL in 43 per cent of the cases, with a zero pregnancy rate. A significant reduction in total operative time was achieved as compared to the conventional microsurgical suture technique, corroborating the ability of the CO2 laser to simplify this technique while producing a sperm-tight anastomosis. One of the drawbacks of this operation is that it is not suited for the performance of a vasoepididymostomy which could be required in those cases in which sperm is absent from the vas fluid at the time of vasovasostomy.

Lasers and squamous cell carcinoma of external genitalia.

Herein is presented our experience with 4 cases of squamous cell carcinoma of the external genitalia, managed by laser vaporization-coagulation. Our results indicate that laser therapy offers the potential for cure of early cases of genital carcinoma where traditional treatment has been refused or medically not possible. No associated morbidity was found. Exceptional cosmetic results were obtained, and this appears to be an added advantage.

Clinical use of carbon dioxide (CO2) laser in microsurgical vasovasostomy.

Herein are reported the first 4 clinical cases of carbon dioxide (CO2) laser microsurgical vasovasostomy. Fusion-coagulation of the vas wall was successfully accomplished, as demonstrated by adequate postoperative sperm counts and a 50 per cent pregnancy rate. A significant reduction in the total operative time was achieved as compared with the conventional microsurgical suture technique, corroborating the ability of the CO2 laser to simplify this technique while producing a sperm-tight anastomosis.

Sexually transmitted papillomaviral infections: IV. The white scrotum.

Retrospective review of 353 male patients, partners of women with known HPV infection, revealed a 22 percent (77) incidence of subclinical scrotal involvement histologically characterized by koilocytosis, and clinically diagnosed only by the routine application of 3% acetic acid. Previous viral typing of 20 of these subclinical lesions revealed HPV DNA in 8 cases. Of these 4 contained high-risk HPVs, suggesting that the "white scrotum" is an important reservoir for the transmission of HPV to the female genitourinary tract.

Sexually transmitted papillomaviral infections: V. Prophylactic use of topical 5-fluorouracil in refractory infection in the male.

The topical administration of 5% fluorouracil (Efudex) was used on 60 males afflicted with recurrent papillomaviral infection, all partners of women with proved HPV disease. The overall response to the medication was 84 percent (total plus partial responses) for those patients afflicted with mixed disease of the shaft, compared with the subclinical and exophytic varieties with 70 and 67 percent response, respectively. Because HPV infections tend to be a field phenomenon involving the entire lower genital tract, this simple form of treatment, that is locally applied with few side effects, appears to be ideal for the management, prophylaxis, and treatment of recurrent disease.

Extravesical transmural ureterolithotomy.

Herein is described a surgical approach for the extravesical transmural removal of impacted distal ureteral calculus. This technique allows easy access to the intramural ureter in those cases in which previous manipulation has failed, thus avoiding the need for a prolonged and tedious transvesical approach.

Carbon dioxide rapid superpulsed laser treatment of erythroplasia of Queyrat.

A single case of erythroplasia of Queyrat successfully treated by rapid superpulsed carbon dioxide laser emission is presented. The results of this single case and previous studies are compared with thos obtained by different modalities used in the past.

Sexually transmitted papillomaviral infections in the male: I. Anatomic distribution and clinical features.

The epidemic of sexually transmitted papillomaviral infection and the suspected role of this virus in the etiology of squamous cancer within the lower genital tract make the clinical assessment of male consorts an essential component in disease control. Of 223 infected sites in 154 males, only 56 per cent of areas showed classic exophytic condylomata. The remaining 44 per cent were detected only after application of 3% acetic acid. Despite the dramatic macroscopic differences between the subclinical and condylomatous variance of human papillomaviral (HPV) infection, both forms showed infectious virus particles. Hence, soaking with 3% acetic acid and examination using a hand lens should become a routine part of the clinical examination for papillomaviral infection in the male genitalia.