Inheritance of genomic regions and genes associated with number of oocytes and embryos in Gir cattle through daughter design.

Over the past decades, daughter designs, including genotyped sires and their genotyped daughters, have been used as an approach to identify QTL related to economic traits. The aim of this study was to identify genomic regions inherited by Gir sire families and genes associated with number of viable oocytes (VO), total number of oocytes (TO), and number of embryos (EMBR) based on a daughter design approach. In total, 15 Gir sire families were selected. The number of daughters per family ranged from 26 to 395, which were genotyped with different SNP panels and imputed to the Illumina BovineHD BeadChip (777K) and had phenotypes for oocyte and embryo production. Daughters had phenotypic data for VO, TO, and EMBR. The search for QTL was performed through GWAS based on GBLUP. The QTL were found for each trait among and within families based on the top 10 genomic windows with the greatest genetic variance. For EMBR, genomic windows identified among families were located on BTA4, BTA5, BTA6, BTA7, BTA8, BTA13, BTA16, and BTA17, and they were most frequent on BTA7 within families. For VO, genomic windows were located on BTA2, BTA4, BTA5, BTA7, BTA17, BTA21, BTA22, BTA23, and BTA27 among families, being most frequent on BTA8 within families. For TO, the top 10 genomic windows were identified on BTA2, BTA4, BTA5, BTA7, BTA17, BTA21, BTA22, BTA26, and BTA27, being most frequent on BTA7 and BTA8 within families. Considering all results, the greatest number of genomic windows was found on BTA7, where the VCAN, XRCC4, TRNAC-ACA, HAPLN1, and EDIL3 genes were identified in the common regions. In conclusion, 15 Gir sire families with 26 to 395 daughters per family with phenotypes for oocyte and embryo production helped to identify the inheritance of several genomic regions, especially on BTA7, where the EDIL3, HAPLN1, and VCAN candidate genes were associated with number of oocytes and embryos in Gir cattle families.

Short communication: Genetic parameter estimates for caprine arthritis encephalitis in dairy goats.

Caprine arthritis encephalitis (CAE) is a chronic disease caused by a retrovirus from the Lentivirus genus. No effective vaccines or treatments exist, and therefore genetic selection for CAE resistance might be a feasible alternative. To our best knowledge, no other studies have investigated the genetic architecture of CAE resistance in dairy goats. In this context, this study was designed to estimate genetic parameters for CAE infection in Alpine and Saanen goats using a Bayesian threshold model. A total of 542 adult goats (and >3-generation pedigree), which were group-housed in a population with high CAE prevalence, were tested based on a serological infection assessment test (negative = 1 or positive = 2) and used for this study. Genetic parameters were estimated using the BLUPF90 family programs. There was considerable genetic variability for CAE resistance, and pedigree-based heritability was significantly different from zero (0.026 < heritability < 0.128). Our findings indicate that the prevalence of CAE in goat herds can be reduced or eliminated through direct genetic selection for CAE resistance in addition to proper management strategies.

Agreement between spectral-domain and time-domain OCT for measuring RNFL thickness.

BACKGROUND/AIMS: To evaluate spectral-domain (SD) optical coherence tomography (OCT) reproducibility and assess the agreement between SD-OCT and Time-Domain (TD) OCT retinal nerve fibre layer (RNFL) measurements. METHODS: Three Cirrus-SD-OCT scans and one Stratus-TD-OCT scan were obtained from Diagnostic Innovations in Glaucoma Study (DIGS) healthy participants and glaucoma patients on the same day. Repeatability was evaluated using Sw (within-subject standard deviation), CV (coefficient of variation) and ICC (intraclass correlation coefficient). Agreement was assessed using correlation and Bland-Altman plots. RESULTS: 16 healthy participants (32 eyes) and 39 patients (78 eyes) were included. SD-OCT reproducibility was excellent in both groups. The CV and ICC for Average RNFL thickness were 1.5% and 0.96, respectively, in healthy eyes and 1.6% and 0.98, respectively, in patient eyes. Correlations between RNFL parameters were strong, particularly for average RNFL thickness (R(2) = 0.92 in patient eyes). Bland-Altman plots showed good agreement between instruments, with better agreement for average RNFL thickness than for sectoral RNFL parameters (for example, at 90 microm average RNFL thickness, 95% limits of agreement were -13.1 to 0.9 for healthy eyes and -16.2 to -0.3 microm for patient eyes). CONCLUSIONS: SD-OCT measurements were highly repeatable in healthy and patient eyes. Although the agreement between instruments was good, TD-OCT provided thicker RNFL measurements than SD-OCT. Measurements with these instruments should not be considered interchangeable.

Pneumatic dilatation in achalasia of the esophagus: a report from Argentina.

We review the treatment of esophageal achalasia by means of pneumatic dilatation (PD), analyzing its results and comparing them with those of the literature. We conclude that our personal experience is similar to that of the literature: PD and surgery produce similar results (67-95%), morbidity (2-9.5%), and mortality (0.7-1%); and PD is cheaper than surgery. According to these conclusions, we believe that the decision of the appropriate treatment should be based on a combination of the choice of the properly informed patient and the operator's experience. However, we also conclude that surgery is mandatory in selected cases, such as achalasia associated with hiatus hernia, esophageal diverticula and neoplasia, history of previous PD failure (since in our experience the results after a second PD are very poor), postoperative relapse, and patients with grade IV mega-esophagus according to Resano-Malenchini's classification.

Heterotopic gastric mucosa in the upper esophagus: report of a case with a fistula.

We report the case of a 36-year-old man with a patch of heterotopic gastric mucosa in the upper esophagus complicated by an esophageal fistula.

Esclerosis múltiple de comienzo tardío con evolución benigna. A propósito de un caso / Multiple sclerosis of late onset and benign course. A case report

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Hemorragia digestiva baja aguda en coriocarcinoma testicular / Acute low digestive hemorrhage in testicular choriocarcinoma

Se presenta un caso de hemorragia intestinal como manifestación inicial de un coriocarcinoma testicular. El diagnóstico de la causa de hemorragia requirió laparatomfa. Lesión metastástica del intestino delgado debe considerarse como causa de hemorragia en paciente con coriocarcinoma testicular.

Hemorragia digestiva baja aguda en coriocarcinoma testicular / Acute low digestive hemorrhage in testicular choriocarcinoma

Se presenta un caso de hemorragia intestinal como manifestación inicial de un coriocarcinoma testicular. El diagnóstico de la causa de hemorragia requirió laparatomfa. Lesión metastástica del intestino delgado debe considerarse como causa de hemorragia en paciente con coriocarcinoma testicular. (AU)

[Acute low digestive hemorrhage in testicular choriocarcinoma]. / Hemorragia digestiva baja aguda en coriocarcinoma testicular.

We report a case in which acute intestinal hemorrhage was the initial manifestation in the evolution of choriocarcinoma of the testis. The diagnosis of bleeding was difficult and required laparotomy. Metastatic lesion of the small bowel should be considered a possible cause of intestinal bleeding in patients with testicular choriocarcinoma.

[Clinical-epidemiological characteristics of late onset multiple sclerosis]. / Caracterización clinicoepidemiológica de la esclerosis múltiple de debut tardío.

INTRODUCTION: Multiple sclerosis (MS) is the most frequent demyelinating disorder of the central nervous system. It mainly affects young adults and it has been calculated that between 20% and 30% are of late onset (after the age of 40), presenting clinical features, a clinical course and prognosis which are specific to this disorder. MATERIAL AND METHODS: Between 1985 and 1994 we studied 297 cases of MS (diagnosed according to the criteria of Poser) and found that in 20.5% the illness had started when the patients were over the age the 40. RESULTS AND CONCLUSIONS: Certain aspects of the clinical features and course of the disorder were compared, taking the group of late onset cases and a randomized sample of 100 cases of early onset, showing that the symptoms and pyramidal signs were more frequent in the late onset group, whilst sensory and visual signs were commoner in the early onset group. In both groups there were more females. MS was defined according to Poser's criteria in 78.7% and 77% respectively. Chronic, primary and secondary progressive forms predominated in tire late onset group, whilst in the group with onset before the age of 40 there was a predominance of the exacerbating-remitting form.