Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study.

The pathogenic mechanisms by which varicocele disrupt spermatogenesis are not clearly understood. Over 30% of male infertility cases resulting from spermatogenic problems are associated with genetic abnormalities, and Y chromosome microdeletions are the second most frequent genetic cause. Here, we aimed to evaluate the frequency of Y chromosome microdeletion in infertile men with varicocele. A cross-sectional study comprising 51 infertile men with varicocele presenting spermatogenesis failures was performed. Y chromosome microdeletion research was made using polymerase chain reaction. Of the 51 men with infertility and varicocele, 35.3% (18/51) had nonobstructive azoospermia and 64.7% had severe oligozoospermia. Y chromosome microdeletion was found in two cases (3.9%): one patient had nonobstructive azoospermia and complete microdeletion of the AZFb and AZFc regions, and another patient had severe oligozoospermia and complete microdeletion of the AZFc region. Although in recent years, a genetic aetiology related to Y chromosome microdeletions has become a major cause of infertility in males with spermatogenesis failures, in this study, the varicocele was the clinical cause of seminal abnormalities that could lead to infertility, suggesting that both varicocele and Y chromosome microdeletion aetiologies can present, alone or combined, as factors of male infertility.

Use of a GnRH synthetic analog (buserelin) for estrous induction in female dogs / Utilização de análogo sintético de GnRH (buserelina) na indução do estro em cadelas

The aim of this study was to evaluate the effectiveness of a GnRH synthetic analog, as an estrous inducer in female dogs when administered during the anestrous phase, and to evaluate the pregnancy rate achieved through natural copulation. For this purpose, ten female dogs of different breeds were used. The subjects received buserelin by intramuscular injections at a dose of 2,1mcg when female dogs weighed up to 10kg (Group 1) and of 4,2mcg when the dogs weighed above 10kg (Group 2). Of the ten subjects, only three presented estrus after a single injection of buserelin: two dogs from Group 1 and one dog from Group 2 on average 7±1.29 days. The remaining seven dogs were given a second dose of buserelin, equal to the first administration. Of these, three belonged to Group 1 and four to Group 2. Four of these dogs exhibited clinical signs of estrus within, on average 9±7.3 days from the second injection. The seven female dogs that did enter estrus were fertilized successfully through natural copulation. The administration of buserelin was effective in inducing estrus in female dogs during the anestrous phase, with a maximum of two administrations.(AU)

Objetivou-se avaliar a eficácia de um análogo sintético ao GnRH como indutor de estro em cadelas em anestro e a taxa de prenhez por meio de cópula natural. Para isso, foram utilizadas 10 fêmeas caninas de diferentes raças. Cadelas de até 10kg de peso (grupo 1) foram submetidas à administração de buserelina por via intramuscular, na dose de 2,1mcg, e cadelas acima de 10kg (grupo 2) foram submetidas à mesma medicação, porém na dose de 4,2mcg. Das fêmeas em anestro, apenas três apresentaram estro com apenas uma aplicação, sendo duas do grupo 1 e uma do grupo 2, em 7±1,29 dias, em média. Em sete cadelas foi administrada mais uma dose de buserelina; destas, quatro eram pertencentes ao grupo 2 e três eram do grupo 1. Os sinais de estro ocorreram, em média, após 9±2,73 dias da segunda aplicação. As sete cadelas que manifestaram estro foram fertilizadas por meio de cópula natural. A administração de buserelina é eficiente para a indução de estro, em cadelas em anestro, em, no máximo, duas aplicações.(AU)

Baked milk tolerant patient: Is there any special feature?

BACKGROUND: Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with baked milk could provide a better quality of life, a better prognosis, and an option for desensitization. OBJECTIVES: The aim of this study was to identify which patients over four years of age with persistent CMA could tolerate baked milk, to compare the clinical and laboratory characteristics of reactive and non-reactive groups and to describe their clinical evolution. MATERIALS AND METHODS: A cross-sectional study was conducted (January/13 to November/14) that included all the patients followed at a food allergy center who met the inclusion criteria. The patients underwent an oral food challenge (OFC) with a muffin (2.8g of cow's milk protein). To exclude cow's milk (CM) tolerance, the patients were subsequently challenged with unheated CM. RESULTS: Thirty patients met all the inclusion criteria. Fourteen patients (46.7%) were considered non-reactive to baked milk and reactive to unheated CM. When the groups that were reactive and non-reactive to baked milk were compared, no statistically significant differences in clinical features were found. The prick test for α-lactalbumin (p=0.01) and casein (p=0.004) and the serum specific IgE for casein (p=0.05) presented statistical differences. After one year, none of the patients who were reactive to baked milk were ingesting CM, while 28% of the tolerant patients were consuming fresh CM (p=0.037). CONCLUSIONS: Baked milk can be tolerated by patients with CMA, especially those with lower levels of casein and α-lactalbumin. This option can improve quality of life and accelerate tolerance.

AMH: An ovarian reserve biomarker in assisted reproduction.

Ovarian reserve tests provide knowledge of a possible response to controlled ovarian hyperstimulation in patients undergoing assisted reproduction treatment, allowing management and alteration of treatment protocol with the appropriate dose of gonadotrophin. Several parameters have been used as predictors of ovarian response. The basal FSH serum level on the third day of the menstrual cycle seemed to be the best predictor, but with significant intraindividual variability from one cycle to another. Thus, the anti-Müllerian hormone (AMH) emerges as a new ovarian test marker. AMH is produced exclusively in the gonads, by the granulosa cells, and plays an important role in folliculogenesis, acting on the modulation of follicular recruitment in the granulosa cells in order to limit the number of recruited oocytes and to regulate the number of growing follicles and their selection for ovulation. It has been suggested that AMH is strongly associated with oocyte yield after ovarian stimulation and could therefore be capable of predicting the ovarian response and the quality of oocytes and embryos. In this review, we discuss the role of AMH in assisted reproduction outcomes.

Promoter -817C>T variant of B lymphocyte stimulator gene (BLyS) and susceptibility to endometriosis-related infertility and idiopathic infertility in Brazilian population.

Many theories have been proposed to explain the development of endometriosis, and recently, autoimmune aetiology has been suggested. Besides, it is well known that endometriosis, especially the advanced disease, may impair fertility. B lymphocyte stimulator (BLyS) is a cytokine produced by macrophages and is necessary for normal B cell development. One of the most studied polymorphisms is the -817C/T in the promoter region of the gene. We aimed to assess the association between endometriosis-related infertility and idiopathic infertility and the BLyS -817C/T polymorphism in a Brazilian population. We performed a case-control study comprising 165 infertile women with endometriosis, 83 with idiopathic infertility and 145 fertile and assessed the association with BLys -817C/T polymorphism. BLyS -817C/T polymorphism was detected using TaqMan PCR. The results were analysed statistically, and a P-value < 0.05 was considered significant. The results disclosed similar genotype and allelic frequencies between endometriosis-related infertility (P = 0.225) and control group, regardless of the disease stage (P = 0.213 and P = 0.462, respectively). However, a statistically significant difference was observed regarding idiopathic infertile group (P = 0.048) compared with controls. Considering the dominant and recessive inheritance models, no significant differences in both endometriosis and idiopathic infertility group were found. The genotype frequencies were in Hardy-Weinberg equilibrium in all studied groups. The results point to a possible association between BLyS -817C/T polymorphism and idiopathic infertility in Brazilian population.

Analysis of CTLA4 gene variant in infertile Brazilian women with and without endometriosis.

An autoimmune aetiology has been suggested for endometriosis mostly on the basis of an increased prevalence of autoimmune diseases in affected women. Cytotoxic T lymphocyte antigen (CTLA) 4 gene is recognized as a primary determinant for autoimmunity, since specific polymorphisms have been associated with predisposition to most autoimmune disorders. Thus, the objective of the study was to evaluate CTLA4 polymorphism (+49A/G) in a group of infertile women with and without endometriosis and controls. Case-control study comprising 244 infertile women (177 with endometriosis and 67 without endometriosis) and 172 fertile women as controls. CTLA4 polymorphism was identified by qPCR. The results were analysed statistically and a P-value <0.05 was considered significant. We found relatively similar CTLA4 polymorphisms genotype frequencies in women with and without endometriosis and controls (P=0.158 and P=0.262, respectively). When the patients with minimal/mild endometriosis and moderate/severe endometriosis were studied separately, no difference was also found related to controls (P=0.560 and P=0.11, respectively). The data suggest that the CTLA4 polymorphism is not associated with endometriosis and/or infertility in Brazilian women.

PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome.

Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Recently, an allelic variation (C1858T) of the PTPN22 gene was revealed to be associated with the development of autoimmunity. Thus, the aim of this study was to determine the frequency of the PTPN22 C1858T polymorphism in women with Turner syndrome (TS) compared to controls. Case-control study comprises 142 women with TS (cases) and 180 healthy and fertile women without a history of autoimmune disease (controls). Detection of the PTPN22 C1858T polymorphism (rs2476601) was performed by TaqMan real-time PCR. The chi-square test was used to compare allele and genotype frequencies between groups and to estimate the Hardy-Weinberg equilibrium. All P-values were two-tailed, and 95% confidence intervals (CIs) were calculated. A P-value <0.05 was considered statistically significant. Genotypes CC, CT and TT of the PTPN22 C1858T polymorphism presented frequencies of, respectively, 67.6%, 28.2% and 4.2% in the TS, and 82.8%, 16.1% and 1.1% in the control group (P = 0.0043). Alleles C and T were present in, respectively, 81.7% and 18.3% of the patients with TS (P = 0.001, OR = 2.22, 95% CI = 1.39-3.54) and in 90.8% and 9.2%, respectively, of the controls. The data suggest that in Brazilian patients with TS, the PTPN22 C1858T polymorphism may be an important genetic factor predisposing to autoimmune disease risk.

[Adenocarcinoma of the cecal appendix. Report of a case of the colic type]. / Adenocarcinoma do apêndice cecal. Relato de um caso do tipo cólico.

Regarding the event of an adenocarcinoma of the colic type of the cecal appendix, operated on at the ABC Medical College Hospital, the authors summarize the subject stating that, among the appendiceal carcinoma, this particular one tends to spread, by the veins or lymphatics, besides spreading by contiguity. This carcinoma hardly presents a symptomology of its own. It appears fairly often as acute appendicitis. The authors also state the difficulty for a macroscopic diagnosis. Thus, its real nature is determined, in general, only after the histologic exam of the removed part. The right hemicolectomy is the most indicated surgery and best results are obtained in the first surgery or 30 days afterwards. About the reported case the patient was operated on with the pre and intra operatory diagnosis of appendicitis and the histologic exam, on top of confirming it, pointed out the presence of neoplasm. After the indication for reoperation, the prompt spreading of the neoplastic disease offered no means to perform any other surgery disclosing its malignant potential.

Adenocarcinoma do apendice cecal. Relato de um caso do tipo colico. / Adenocarcinoma of the cecal appendix.Report of a case of the colic type

A proposito de um caso de adenocarcinoma do tipo colico do apendice cecal, operado no Hospital de Ensino da Faculdade de Medicina do ABC, e feita uma revisao do assundo, assinalando que, dentre os carcinomas do apendice, este tem tendencia a metastizacao por via linfatica e venosa, alem de se propagar por contiguidade. Praticamente destituido os sintomatologia propria, revela-se, na maioria das vezes, por manifestacoes de apendicite aguda. Sao ressaltadas as dificuldades de diagnostico macroscopico, o que faz com que a sua real natureza seja estabelecida, em geral, apos o exame histopatologico da peca cirurgica.A hemicolectomia direita e a operacao indicada e cujos melhores resultados sao obtidos como primeira intervencao ou dentro de 30 dias desta. No caso estudado, o paciente foi operado com o diagnostico pre e intra-operatorio de apendicite aguda e o exame histopatologico alem de confirma-lo, demonstrou a presenca da neoplasia. Indicada a reintervencao, a rapida propagacao da doenca neoplasica impediu a realizacao de qualquer procedimento desejado, demonstrando o grande potencial maligno da afeccao