Klinefelter syndrome (KS), caused by the presence of an extra X chromosome, is the most prevalent chromosomal sexual anomaly, with an estimated incidence of 1:500/1000 per male live birth (karyotype 47,XXY). High stature, tiny testicles, small penis, gynecomastia, feminine body proportions and hair, visceral obesity, and testicular failure are all symptoms of KS. Endocrine (osteoporosis, obesity, diabetes), musculoskeletal, cardiovascular, autoimmune disorders, cancer, neurocognitive disabilities, and infertility are also outcomes of KS.
View Article and Find Full Text PDFPurpose: The main objective of this opinion paper was to bring to light and enhance our understanding of the amount of double-strand DNA breaks in sperm and whether there is a threshold of no return when considering repair by the oocyte/embryo.
Methods: A brief review of literature related to the theories proposed for the appearance of double-strand breaks in human spermatozoa. Further commentary regarding their detection, how oocytes or embryos may deal with them, and what are the consequences if they are not repaired.
Organic acid stress often represents a major hurdle in industrial bio-based microbial processes. Organic acids can be released from lignocellulosic feedstocks pretreatment and can also be desirable products obtained by microbial fermentation with applications in different industrial sectors. Yeasts are prominent cell factories.
View Article and Find Full Text PDFIntroduction And Objectives: Erectile dysfunction (ED) is a common complication after radical prostatectomy that affects quality of life. There are several therapeutic options, including intracavernous alprostadil injections (IAI). However, no specific recommendations have been made on the optimal rehabilitation strategy.
View Article and Find Full Text PDFIn the last decade, microbial-based biotechnological processes are paving the way toward sustainability as they implemented the use of renewable feedstocks. Nonetheless, the viability and competitiveness of these processes are often limited due to harsh conditions such as: the presence of feedstock-derived inhibitors including weak acids, non-uniform nature of the substrates, osmotic pressure, high temperature, extreme pH. These factors are detrimental for microbial cell factories as a whole, but more specifically the impact on the cell's membrane is often overlooked.
View Article and Find Full Text PDFIntroduction And Hypothesis: In women with predominant stress urinary incontinence (SUI), recent data are still controversial regarding the short-term outcomes of mini-slings and there is a lack of evidence about the outcomes in the long term. Our aim was to evaluate the long-term effectiveness and complication rates of Altis® (Coloplast).
Methods: A total of 145 women with clinical SUI were implanted with an Altis® sling between April 2012 and December 2015.
Mucosa-associated lymphoid tissue (MALT) lymphomas are a distinctive group of B-cell lymphomas. These lymphomas arise from various anatomic sites and are mainly seen in the gastrointestinal tract, but the primary involvement of the kidney is extremely rare. We report a case of a MALT lymphoma involving the kidney and the renal pelvis.
View Article and Find Full Text PDFThe golden lion tamarin is an endangered primate endemic to Brazil's Atlantic Forest. Centuries of deforestation reduced numbers to a few hundred individuals in isolated forest fragments 80 km from Rio de Janeiro city. Intensive conservation action including reintroduction of zoo-born tamarins into forest fragments 1984-2000, increased numbers to about 3,700 in 2014.
View Article and Find Full Text PDFEfforts to reverse the decline of endangered golden lion tamarin monkeys have been relatively successful because the Brazilian organization dedicated to the species' conservation (Associação Mico-Leão-Dourado, AMLD) relies on science-based computer modeling to determine the number of tamarins necessary to achieve demographic and genetic goals, and a process of strategic planning to achieve those goals. Accurate estimates of the numbers of tamarins in forest fragments are essential to evaluate progress in achieving goals and adapt strategies as necessary. In this report we present the results of a new method to survey the number of tamarins in the wild, a modification of the point transect with lures procedure.
View Article and Find Full Text PDFAcetic acid tolerance and xylose consumption are desirable traits for yeast strains used in industrial biotechnological processes. In this work, overexpression of a weak acid stress transcriptional activator encoded by the gene HAA1 and a phosphoribosyl pyrophosphate synthetase encoded by PRS3 in a recombinant industrial Saccharomyces cerevisiae strain containing a xylose metabolic pathway was evaluated in the presence of acetic acid in xylose- or glucose-containing media. HAA1 or PRS3 overexpression resulted in superior yeast growth and higher sugar consumption capacities in the presence of 4 g/L acetic acid, and a positive synergistic effect resulted from the simultaneous overexpression of both genes.
View Article and Find Full Text PDFIntroduction: Urorectal fistula (URF) is a devastating complication of pelvic cancer treatments and a surgical challenge for the reconstructive surgeon. We report a series of male patients with URF resulting from pelvic cancer treatments, specifically prostate (PCa), bladder (BCa), and rectal cancer (RCa), and explore the differences and impact on outcomes between purely surgical and non-surgical treatment modalities.
Methods: Between October 2008 and June 2015, 15 male patients, aged 59-78 years (mean 67), with URF induced by pelvic cancer treatments were identified in our institutions.
Introduction: The development of new surgical techniques and medical devices, like therapeutical multimodal approaches has allowed for better outcomes on patients with rectal cancer (RCa). Owing to that, an increased awareness and investment towards better outcomes regarding patients' sexual and urinary function has been recently observed.
Aim: Evaluate and characterize the sexual dysfunction of patients submitted to surgical treatment for RCa.
The aim of this study was to determine whether patients with transthyretin-related hereditary amyloidosis (V30M), after transplantation or under tafamidis treatment, have normal gamete reproductive capacity. A retrospective analysis was carried out of all preimplantation genetic diagnosis (PGD) cycles performed in patients with the V30M mutation. The groups analysed were: total cases with V30M, female cases with V30M and male cases with V30M.
View Article and Find Full Text PDFThe aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC). The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc) and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB) outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI).
View Article and Find Full Text PDFPurpose: Perform the genetic characterization of five patients with total sperm immotility using Sanger sequencing and Whole Exome Sequencing (WES), in order to increase the knowledge on the genetics of sperm immotility and, ultimately, allow the identification of potential genetic markers for infertility.
Methods: Prospective study at a University Medical school. We analysed five men with total sperm immotility, four with dysplasia of the fibrous sheath (DFS), associated with disruption of several axonemal structures, and one patient with situs inversus totalis, which showed absence of dynein arms (DA) and nexin bridges.
Asthenozoospermia has been related to structural defects of the sperm flagellum. However, few reports have studied in detail the ultrastructure of sperm with total immotility. We present an ultrastructural study of sperm from five patients with total sperm immotility, four due to dysplasia of the fibrous sheath (DFS) and one with situs-inversus.
View Article and Find Full Text PDFTemporal lobe epilepsies are associated with cognitive dysfunctions in memory which are important clues currently used clinically for the lateralization of the epileptic focus in evaluations for epilepsy surgery. Because these lobes also contain the primary auditory cortex, the study of auditory evoked potentials (AEPs) is a candidate, not yet established, complementary method to characterize epilepsy-induced dysfunction. We aimed to establish the clinical usefulness of auditory evoked potentials for the study of pediatric symptomatic temporal lobe epilepsies.
View Article and Find Full Text PDFIntroduction And Hypothesis: Data on Altis® (Coloplast), a new adjustable single-incision sling (SIS) procedure for the treatment of female stress urinary incontinence (SUI), are scarce. Our aim was to evaluate the efficacy and complication rates of this procedure.
Methods: In this prospective observational study, a total of 52 women with SUI were implanted with an Altis sling in an ambulatory setting.
The ejaculatory ducts obstruction is an uncommon finding in the study of infertility male factor. We present two cases referred to our department for conjugal infertility, with proven male factor (low ejaculate volume and azoospermia). On physical examination there was no abnormality in both patients.
View Article and Find Full Text PDFPurpose: Little is known about the apoptotic mechanisms involved in abnormal spermatogenesis. In order to describe the significance of apoptosis in azoospermia, testicular tissue from abnormal spermatogenesis was analysed.
Methods: Testicular treatment biopsies were obtained from 27 men.
Syst Biol Reprod Med
February 2013
Cystic fibrosis is the most frequent autosomal recessive disease in the Caucasian population, with an incidence of 1:2500 newborn and a frequency of 1:25. The associated gene is Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and it encodes the CFTR protein that functions as a chloride (Cl(-)) channel. It is found in the apical membrane of exocrine epithelial cells, responsible for the regulation of the movement of water and solutes through biological membranes.
View Article and Find Full Text PDFComp Biochem Physiol C Toxicol Pharmacol
March 2012
Taking into account the concept of the "Trojan Horse", where contaminants may have its entry into specific organs potentiated by its association with nanomaterials, the aim of this study was to analyze the joint toxic effects induced by an organic nanomaterial, fullerene (C(60)) with the metalloid arsenic (As(III)). Hepatocytes of zebrafish Danio rerio were exposed to As(III) (2.5 or 100 μM), C(60) or As+C(60) for 4h, not altering cells viability.
View Article and Find Full Text PDFIntroduction: This study aimed to analyze antioxidant responses and oxidative damage induced by two inorganic forms of arsenic (As; As(III) and As(V)) in an estuarine polychaete species, Laeonereis acuta (Nereididae). The capacity of arsenic biotransformation was also evaluated through the methylation process considering the activity of a key enzyme involved in the metabolization process.
Materials And Methods: Worms were exposed to 50 μg (As(III) or As(V))/l during 2 or 7 days, plus a control group.
Unlabelled: There is no ideal tissue or substance to be injected in the vocal folds. The objective of the present study was to assess the use of Durasphere in canine vocal fold injection.
Materials And Methods: in six adult dogs we injected 0.
Objectives: We investigated effects of chronic exposure (2 months) to ambient levels of particulate matter (PM) on development of protease-induced emphysema and pulmonary remodeling in mice.
Methods: Balb/c mice received nasal drop of either papain or normal saline and were kept in two exposure chambers situated in an area with high traffic density. One of them received ambient air and the other had filters for PM.