Preserved Fertility In A Patient With Gynecomastia Associated With The P.pro695ser Mutation In The Androgen Receptor.

The androgen insensitivity syndrome (AIS) is described as a dysfunction of the androgen receptor (AR) in 46,XY individuals, which can be associated with mutations in the AR gene or can be due to unknown mechanisms. Different mutations in AIS generally cause variable phenotypes that range from a complete hormone resistance to a mild form usually associated with male infertility. The purpose of this study was to search for mutations in the AR gene in a fertile man with gynecomastia and to evaluate the influence of the mutation on the AR transactivation ability. Sequencing of the AR gene revealed the p.Pro695Ser mutation. It is located within the AR ligand-binding domain. Bioinformatics analysis indicated a deleterious role, which was verified after testing transactivation activity and N-/C-terminal (N/C) interaction by in vitro expression of a reporter gene and 2-hybrid assays. p.Pro695Ser showed low levels of both transactivation activity and N/C interaction at low dihydrotestosterone (DHT) conditions. As the ligand concentration increased, both transactivation activity and N/C interaction also increased and reached normal levels. Therefore, this study provides functional insights for the p.Pro695Ser mutation described here for the first time in a patient with mild AIS. The expression profile of p.Pro695Ser not only correlates to the patient's phenotype, but also suggests that a high-dose DHT therapy may overcome the functional deficit of the mutant AR.

Determinação de açúcar total em café cru por espectroscopia no infravermelho próximo e regressão por mínimos quadrados parciais

In this work a fast method for the determination of the total sugar levels in samples of raw coffee was developed using the near infrared spectroscopy technique and multivariate regression. The sugar levels were initially obtained using gravimety as the reference method. Later on, the regression models were built from the near infrared spectra of the coffee samples. The original spectra were pre-treated according to the Kubelka-Munk transformation and multiplicative signal correction. The proposed analytical method made possible the direct determination of the total sugar levels in the samples with an error lower by 8% with respect to the conventional methodology.

Astrocitoma frontal com metastase medular: registro de um caso e revisão da literatura

A case of a right frontal astrocytoma with spinal metastatic lesion in the region of the third dorsal vertebra is reported. The metastatic nodule was removed six months after the craniotomy. In the literature concerning to the dissemination of tumors cells is suggested that there is not a causal relationship between CSF seeding and operative intervention. Acess to the ventricular system or basal cisterns is of primary importance in the production of metastases.

Cisticercose medular relato de dois casos, revisão da literatura e comentários sobre a patogenia

A case of spinal intramedular cysticercosis in a 13-year-old Brazilian female and a case of spinal leptomeningeal infestation by cysticercosis in a 51 year-old Brazilian female are presented. A review of 95 published cases of medullar cysticercosis since 1856 shows the incidence of this condition. Extramedullar forms are explained by the downward migration of larvae from the cerebral to the spinal subarachnoid space and most larvae are expected to be stopped in the upper portions of the spinal canal due to peculiarities of the anatomy of the spinal cord.

The Sperm Of Hexagenia (pseudeatonica) Albivitta Walker (ephemeroptera: Fossoriae: Ephemeridae)

This study describes the sperm morphology of the mayfly Hexagenia (Pseudeatonica) albivitta (Ephemeroptera). Its spermatozoon measures approximately 30 μm of which 9 μm corresponds to the head. The head is composed of an approximately round acrosomal vesicle and a cylindrical nucleus. The nucleus has two concavities, one in the anterior tip, where the acrosomal vesicle is inserted and a deeper one at its base, where the flagellum components are inserted. The flagellum is composed of an axoneme, a mitochondrion and a dense rod adjacent to the mitochondrion. A centriolar adjunct is also observed surrounding the axoneme in the initial portion of the flagellum and extends along the flagellum for at least 2 μm, surrounding the axoneme in a half-moon shape. The axoneme is the longest component of the flagellum, and it follows the 9+9+0 pattern, with no central pair of microtubules. At the posterior region of the flagellum, the mitochondrion has a dumb-bell shape in cross sections that, together with the rectangular mitochondrial-associated rod, is responsible for the flattened shape of the flagellum. An internal membrane is observed surrounding both mitochondrion and its associated structure.