Determination of CYP2D6 *3, *4, and *10 frequency in women with breast cancer in São Luís, Brazil, and its association with prognostic factors and disease-free survival

The CYP2D6 enzyme is crucial for the metabolism of tamoxifen. The CYP2D6 gene is highly polymorphic, and individuals can be extensive, intermediate, or poor tamoxifen metabolizers. The aim of this study was to determine the frequencies of the CYP2D6 *3, *4, and *10 alleles in women with breast cancer who were treated with tamoxifen and analyze the association of enzyme activity with prognostic factors and disease-free survival. We observed a high frequency of CYP2D6 *10, with an allelic frequency of 0.14 (14.4%). The *3 allele was not present in the studied population, and *4 had an allelic frequency of 0.13 (13.8%). We conclude that patients with reduced CYP2D6 activity did not present worse tumor characteristics or decreased disease-free survival than women with normal enzyme activity, as the difference was not statistically significant. We also observed a high frequency of CYP2D6 *10, which had not been previously described in this specific population. This study is the first in north-northeastern Brazil that aimed to contribute to the knowledge of the Brazilian regional profile for CYP2D6 polymorphisms and their phenotypes. These findings add to the knowledge of the distribution of different polymorphic CYP2D6 alleles and the potential role of CYP2D6 genotyping in clinical practice prior to choosing therapeutic protocols.

Determination of CYP2D6 *3, *4, and *10 frequency in women with breast cancer in São Luís, Brazil, and its association with prognostic factors and disease-free survival.

The CYP2D6 enzyme is crucial for the metabolism of tamoxifen. The CYP2D6 gene is highly polymorphic, and individuals can be extensive, intermediate, or poor tamoxifen metabolizers. The aim of this study was to determine the frequencies of the CYP2D6 *3, *4, and *10 alleles in women with breast cancer who were treated with tamoxifen and analyze the association of enzyme activity with prognostic factors and disease-free survival. We observed a high frequency of CYP2D6 *10, with an allelic frequency of 0.14 (14.4%). The *3 allele was not present in the studied population, and *4 had an allelic frequency of 0.13 (13.8%). We conclude that patients with reduced CYP2D6 activity did not present worse tumor characteristics or decreased disease-free survival than women with normal enzyme activity, as the difference was not statistically significant. We also observed a high frequency of CYP2D6 *10, which had not been previously described in this specific population. This study is the first in north-northeastern Brazil that aimed to contribute to the knowledge of the Brazilian regional profile for CYP2D6 polymorphisms and their phenotypes. These findings add to the knowledge of the distribution of different polymorphic CYP2D6 alleles and the potential role of CYP2D6 genotyping in clinical practice prior to choosing therapeutic protocols.

Tongue papillae morphology of brown-throated sloth Bradypus variegatus (SCHINZ, 1825) / Morfologia das papilas linguais de preguiça comum Bradypus variegatus (SCHINZ, 1825)

The Bradypus variegatus inhabits the forests of South America and feeds from leaves, branches and sprouts from different plants. Due to its diet and the lack of literature on the morphological aspect of Xenarthras, five Bradypus variegatus tongues from animals which died from natural causes were evaluated, and they came from Pará State Museum Emílio Goeldi and were donated to the Laboratory of Animal Morphological Research (LaPMA) from UFRA, for revealing the different types of papillae and epithelial-connective tissue. Macroscopically, the tongues presented elongated shape, rounded apex, body, root, median sulcus in the root's apex, and two vallate papillae. The mucous membrane of the tongue revealed a keratinized stratified pavement epithelium, while the ventral surface of the tongue was thin and smooth, not provided with any type of papillae. However, the dorsal surface of the tongue was irregular with the presence of three types of papillae: filiform, fungiform and vallate papillae. The filiform papillae found were of a simple type, presenting a rounded base, irregularly distributed with a larger concentration and development on the tongue's apex and body. The fungiform papilla showed a practically smooth surface with irregular format, with the presence of gustatory pores; these were found all over the dorsal surface, with larger concentration at the rostral part of the apex. Only two vallate papillae were observed disposed in the root of the tongue, surrounded by a deep groove, and revealing several taste buds. The tongues from Bradypus variegatus presented gustatory papillae similar to the ones described for other Xenarthras species and wild mammals...

A Bradypus variegatus habita florestas da América do Sul e alimenta-se de folhas, ramos e brotos de várias plantas. Em decorrência de sua dieta, bem como da escassez de literatura sobre aspectos morfológicos dos Xenarthras, avaliaram-se cinco línguas de Bradypus variegatus, que foram a óbito por causas naturais, provenientes do Museu Paraense Emílio Goeldi e doados ao Laboratório de Pesquisa Morfológica Animal (LaPMA) da UFRA, a fim de se elucidarem os diferentes tipos de papilas e a interface epitélio-tecido conjuntivo. Macroscopicamente, as línguas apresentaram formato alongado, ápice arredondado, corpo, raiz, sulco mediano do ápice à raiz e duas papilas valadas. A mucosa da língua revelou epitélio de revestimento pavimentoso estratificado queratinizado, enquanto a face ventral era delgada e lisa, desprovida de qualquer tipo de papila. Já a face dorsal apresentou-se irregular, com a presença de três tipos papilares: papilas filiformes, fungiformes e valadas. As papilas filiformes encontradas eram do tipo simples, com base circular, distribuídas irregularmente, com maior concentração e desenvolvimento no ápice e no corpo da língua. A papila fungiforme mostrou-se com superfície praticamente lisa e de formato irregular, com a presença de poros gustativos. Estas foram encontradas por toda a superfície dorsal, com maior concentração na parte rostral do ápice. Foram observadas apenas duas papilas valadas, dispostas na região da raiz da língua, com corpo rodeado por sulcos profundos e vários botões gustativos. As línguas de Bradypus variegatus apresentaram papilas linguais similares às descritas para outras espécies de Xenarthras e mamíferos selvagens...

The exstrophy-epispadias complex: is aesthetic appearance important?

OBJECTIVE: To show the relevance of cosmetic appearance in the adequate treatment of patients with exstrophy-epispadias complex (EEC), and to indicate that surgery by experienced teams can improve the long-term treatment forecast and the patient's body image. PATIENTS AND METHODS: From 1978 to 2002, 71 patients diagnosed with EEC were treated in the authors' institution; 24 (aged 2-23 years) were selected to undergo different surgical procedures. The criterion for surgery considered interviews conducted by the psychology team with the parents and children. The plastic surgery and paediatric urology teams carried out the procedures jointly; the follow-up was 0.33-7 years. RESULTS: Five female patients and six male had abdominoplasty to treat multiple scars; eight had intermittent catheterization conduits repositioned from the right iliac fossa to the umbilicus. Six female patients had plastic surgery of the external genitalia and three had a broad mobilization of the urogenital sinus. Thirteen male patients had a small penis and had the corpora cavernosa fully mobilized and the penis reconstructed. Five female patients and one male had anterior osteotomy. One patient with no left testis had it replaced and one patient with uterine prolapse had the uterus fixed to the posterior abdominal wall. Six patients had a second procedure, in two because the outcome of the initial operation was poor and in the others to complement the initial treatment. In all but one patient there was an improvement in the objective criteria, e.g. school absences, difficulty in establishing long-lasting social relationships and refusal to participate in sports activities. However, none of the patients would attempt sexual intercourse. CONCLUSIONS: Body image, self-esteem, sexuality, sexual function and fertility are deemed crucial by adolescents; in patients with EEC customised surgical procedures can give a satisfactory aesthetic outcome, and be a further reason for adequately following occasional urinary complications and renal function, to avoid loss to follow-up.

Surgical treatment of breast asymmetry

Since the original description of the most severe from of breast asymmetry by Poland [1], this matter has been revised from time to time. Not all breast asymmetries can be classified as pathologic. Indeed, most women have slightly different breasts. The therapeutic arsenal of modern Plastic Surgery includes techniques of reduction mammaplasty, augmentation mammaplasty and mastopexy, that should be used in accordance with the specific need of each case [2]. In the present study four cases of breast asymmetry are reported, analyzing esthetic aspects and surgical procedures employed in each case.

Total en bloc reconstruction of the alar cartilage using autogenous ear cartilage.

A new technique is described for increasing the nasal tip by using an en bloc autogenous ear cartilage graft in such a manner as to create, in essence, a replacement of the entire ipsilateral alar cartilage.

Effect of nicotine in randomized skin flaps in rats

This study analyzed the perfusion of randomized skin flaps in rats after nicotine injections, in doses that could be compared with heavy and light smorkers. A skin flap was elevated after 12 weeks of nicotine adminsitration and the percentage of necrotic area was determined thereafter. There was a statistically significant difference between "heavy smokers" in the preoperative (G3) and preoperative and postoperative periods (G5), suggesting a deleterious effect of nicotine in the postoperative period

Umbilicoplasty for the abdomen with a thin adipose layer.

The authors present a new technique for umbilicoplasty performed on nine patients who were followed up for at least a year. The method is based on the formation of four dermal flaps which after deepithelialisation and fixation reconstitute the umbilical anatomy. The depth of the new umbilicus depends upon the construction of a cylinder. This method is easily performed in patients with a thin abdominal adipose layer and gives good results.

A severe case of Beare-Stevenson syndrome and associated congenital deformities.

A severe case of congenital anomalies is described, with several characteristics of Beare-Stevenson syndrome, such as cutis gyrata, acanthosis nigricans, craniofacial anomalies, ear defects, enlarged umbilical stump and anogenital anomalies. He does not have craniosynostosis or clover leaf skull, which has also been described in this syndrome. This patient also shows hands and feet anomalies, absence of skin adnexa in several locations and dental anomalies, which could suggest an associated ectodermal dysplasia.

[Group consultation: a space for women]. / Consulta coletiva: o espaço da mulher.

This experience took place in a Medical Center, in Rio de Janeiro, in 1988. The group responsible for it included a social worker, a nutritionist, a nurse and a gynecologist. The aims were: to offer better health care; to discuss the importance, the results and the appropriate therapies of the Pap smear; to offer women an opportunity to meet and discuss their problems, experiences, desires, expectations; and to offer to the health professionals the opportunity to re-think their own practices. The methodology used was characterized by making appointments for a medical exam subsequent to a Pap smear; evaluation of each Pap smear result and its appropriate treatment, previous to the group consultation; group discussion about the Pap smear results; and about themes brought up by women clients. The main results were: an increase of 42.7% in the number of women who went for their first medical exam; an increase of ten minutes in the length of each medical exam; better screening for syphilis and gonorrhea, better quality of health care within the perspective of women as integral beings (greater appreciation of a woman s own experiences, be it in terms of her complaints and problems be it in her evaluation of the medical care system). This kind of consultation is of rather recent date and if it becomes more wide-spread it could result in an increase in the number and quality of the medical exam.

Medias e medidas de dispersao da pressao arterial no primeiro ano de vida. / Means and dispersion measurements of blood pressure in the first year of life

A autora apresenta as medias e medidas de dispersao (desvios padroes e percentis) das pressoes sistolicas e diastolicas de criancas no primeiro ano de vida, como recurso auxiliar no controle de saude no aspecto em questao