Evaluation of PvuII and XbaI polymorphisms in the estrogen receptor alpha gene (ESR1) in relation to menstrual cycle timing and reproductive parameters in post-menopausal women

Objective: To evaluate the association of −397T>C and −351A>G single nucleotide polymorphisms (SNPs) – also called PvuII and XbaI, respectively – located on estrogen receptor alpha (ERS1) gene with age at menarche, menopause onset, fertility and miscarriage in a population of post-menopausal women. Study design: Cross-sectional study with 273 healthy, high miscegenated, post-menopausal women (mean age of 63.1 ± 9.7 years old). Subjects were genotyped for PvuII and XbaI SNPs by PCR-RFLP and confirmed by automatic sequencing. Reproduction informations (age at menarche, age at menopause, number of pregnancies, fertility rate and miscarriages) were obtained by retrospective study using a questionnaire. Result(s): Age at menarche, menopause onset, number of pregnancies, total fertility rate, and parity did not seem to be influenced by any of the studied genotypes (chi-square, p > 0.05). However, women carrying the xx genotype showed a 44% higher chance of miscarriage, whereas this value did not trespass 16% for any other genotype analyzed. It has been also observed a higher occurrence of miscarriage in association with combined xxpp genotype of ERS1 gene (chi-square, p < 0.01). Conclusion(s): The present data indicate that the studied SNPs on ERS1 gene do not influence the menstrual cycle timing and parity but there is a strong relationship between the xx ERS1 SNP genotype and the incidence of miscarriage in the post-menopausal population analyzed.     

Bilateral Adventitial Cystic Disease of the Popliteal Artery: A Case Report

Adventitial cystic disease (ACD) of the popliteal artery is an uncommon vascular condition of unknown etiology. In the present case report, we describe a case of bilateral ACD of the popliteal artery in a 58-year-old male. To the best of our knowledge, this is the first case of bilateral ACD of the popliteal artery reported in the literature.     

Temporal characteristics of visual receptive fields in primary visual cortex and medial superior temporal cortex areas

We mapped the receptive fields of 49 cells from primary visual cortex and 19 cells from medial superior temporal cortex in two awake monkeys. The receptive field structures we obtained lasted a mean time of 32.7 ms in primary visual cortex and 38.4 ms in medial superior temporal cortex, showing no statistical difference. This result suggests that both areas have the same time requirements for processing visual information. In primary visual cortex, 100% of cells had conformed the receptive field structure at 65 ms pre-spike, whereas in medial superior temporal cortex it occurred at 150 ms. In both areas, cells with shorter response latencies had receptive field structures with longer durations. This may indicate that cells tend to synchronize their output to other areas.     

Spigelian hernia containing an intraabdominal liposarcoma

We present a case of Spigelian hernia containing an intraabdominal liposarcoma observed in a 49-year-old patient. We describe the clinical symptoms and the findings at physical examination, complementary tests, and diagnostic imaging. We comment on the surgical findings, histological diagnosis, and clinical evolution.     

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Introduction

Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature.

Investigation of Association between Autophagy-Related Gene Polymorphisms and Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population

Purpose: Cellular stress conditions are important mechanisms implicated in the pathogenesis of pseudoexfoliation syndrome. One of the potential cellular responses to these stress conditions is induction of autophagy. The purpose of this study was to evaluate whether genetic variants in three critical genes of autophagy (ATG16L, ATG2B, ATG5) may be involved in the development of pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) in a Spanish population. Methods: 108 patients (64 XFS, 44XFG) and 118 healthy controls were evaluated. The analysis of genetic polymorphisms was performed by standard TaqMan allelic discrimination technique. Results: No significant differences in either genotype distributions or allelic frequencies of the tested polymorphisms were found between patients with XFS/XFG and control subjects. Conclusions: Our results suggest that these three genes that are critical components of the autophagy pathway (ATG16L, ATG2B, ATG5) are not significant risk factors among Spanish patients with either XFS or XFG.     

The relationship between leishmaniasis and AIDS: the second 10 years

To date, most Leishmania and human immunodeficiency virus (HIV) coinfection cases reported to WHO come from Southern Europe. Up to the year 2001, nearly 2,000 cases of coinfection were identified, of which 90% were from Spain, Italy, France, and Portugal. However, these figures are misleading because they do not account for the large proportion of cases in many African and Asian countries that are missed due to a lack of diagnostic facilities and poor reporting systems. Most cases of coinfection in the Americas are reported in Brazil, where the incidence of leishmaniasis has spread in recent years due to overlap with major areas of HIV transmission. In some areas of Africa, the number of coinfection cases has increased dramatically due to social phenomena such as mass migration and wars. In northwest Ethiopia, up to 30% of all visceral leishmaniasis patients are also infected with HIV. In Asia, coinfections are increasingly being reported in India, which also has the highest global burden of leishmaniasis and a high rate of resistance to antimonial drugs. Based on the previous experience of 20 years of coinfection in Europe, this review focuses on the management of Leishmania-HIV-coinfected patients in low-income countries where leishmaniasis is endemic.     

The Emerging Picture of Human Breast Cancer as a Stem Cell-based Disease

There are increasing data supporting the existence of a cell hierarchy within the mammary gland. At the top or this hierarchy a small population of cells with self-renewal properties maintains the tissue architecture and remodeling, and they are known as stem cells. Also, recent evidences indicate that breast cancer is originated and maintained by its own cancer stem cells reminding the normal mammary gland. The existence of this small population of cells with self-renewal capability has important biological and clinical significances. So, the interpretation of tumors as hierarchical cellular structures has changed our vision of the breast cancer scenario. Here, we review the current knowledge about normal and breast cancer stem cells, and their implications in cancer development, together with their consequences in breast cancer susceptibility, dissemination and treatment response.     

Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature

RUNX1 over-representation is present in children with acute lymphoblastic leukemia. Although these cases have been related with poor outcome, not all reports describe patient follow-up. To understand its associated clinical features and prognosis, we report on 14 children with ALL and RUNX1 over-representation with laboratory data and outcomes compared to previous reports. Eighty-six children with RUNX1 over-representation have been described, including the 14 patients of this study. Most of them are between 6 and 15 years of age, have low leukocyte counts, pre-B immunophenotype, and three to eight RUNX1 copies. Of the 69 patients with follow-up data, 21 of them relapsed or died, suggesting that RUNX1 over-representation is associated to a poor outcome.     

The rostral migratory stream is a neurogenic niche that predominantly engenders periglomerular cells: in vivo evidence in the adult rat brain

In vitro studies support the existence of adult neural stem cells in the rostral migratory stream (RMS). The evidence supporting this possibility in vivo is scarce. We then explore this issue by taking advantage of a rat model in which a physical barrier implanted in the brain interrupted the migration of neuroblasts derived from the SVZ along the RMS at the level of its vertical limb. The presence of local stem cells and neurogenesis were then established by estimating the number of nuclei labeled with bromo-deoxyuridine (BrdU), the number of doublecortin-positive neuroblasts and the existence of cells displaying co-localization of BrdU and Sox-2 immunoreactivity along the RMS, at different time points following barrier implantation. Estimations of the number of the granular and periglomerular neurons integrated into the corresponding layers of the olfactory bulb of implanted rats established that stem cells in the RMS give rise predominantly to periglomerular neurons. Our results then support the notion that the RMS is indeed a region in which neurogenesis is taking place in the adult brain. They also support that the relative location of the neurogenic niche might imprint, at least in some degree, the identity and lineage of the neuroblasts arising from them.