Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment

Abstract

Oocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis.     

Neorickettsia helminthoeca associated lymphoid,enteric, and pulmonary lesions in dogs from Southern Brazil: An immunohistochemical study

Neorickettsia helminthoeca (NH), the agent of salmon poisoning disease or canine neorickettiosis (CN), is a bacterial endosymbiont of the nematode Nanophyetus salmincola, and infections are spreading among specific fish‐eating mammalians. This article describes the pathologic and immunohistochemical findings associated with spontaneous NH‐induced infections in dogs from Southern Brazil. The principal pathologic findings were hypertrophy of Peyer patches and lymphadenopathy with lymphocytic proliferation, chronic interstitial pneumonia, and chronic enteritis associated with positive intralesional immunoreactivity to antigens of NH within macrophages and histiocytes. Positive immunoreactivity against canine parvovirus‐2 (CPV‐2) or/and canine distemper virus was not detected in the evaluated intestinal segments or in the samples from the cerebellum and lungs, respectively, from the dogs evaluated. These findings demonstrated that NH was involved in the enteric, pulmonary, and lymphoid lesions herein described, and provide additional information to confirm the occurrence of this bacterial endosymbiont within this geographical location. It is proposed that chronic pneumonia should be considered as a pathologic manifestation of NH‐induced infections. Additionally, our results show that the occurrences of CN seem to be underdiagnosed in Southern Brazil due to the confusion with the incidence of CPV‐2.     

Evaluation of selective attention in patients with misophonia

IntroductionMisophonia is characterized by the aversion to very selective sounds, which evoke a strong emotional reaction. It has been inferred that misophonia, as well as tinnitus, is associated with hyperconnectivity between auditory and limbic systems. Individuals with bothersome tinnitus may have selective attention impairment, but it has not been demonstrated in case of misophonia yet.ObjectiveTo characterize a sample of misophonic subjects and compare it with two control groups, one with tinnitus individuals (without misophonia) and the other with asymptomatic individuals (without misophonia and without tinnitus), regarding the selective attention.MethodsWe evaluated 40 normal-hearing participants: 10 with misophonia, 10 with tinnitus (without misophonia) and 20 without tinnitus and without misophonia. In order to evaluate the selective attention, the dichotic sentence identification test was applied in three situations: firstly, the Brazilian Portuguese test was applied. Then, the same test was applied, combined with two competitive sounds: chewing sound (representing a sound that commonly triggers misophonia), and white noise (representing a common type of tinnitus which causes discomfort to patients).ResultsThe dichotic sentence identification test with chewing sound, showed that the average of correct responses differed between misophonia and without tinnitus and without misophonia (p = 0.027) and between misophonia and tinnitus (without misophonia) (p = 0.002), in both cases lower in misophonia. Both, the dichotic sentence identification test alone, and with white noise, failed to show differences in the average of correct responses among the three groups (p ≥ 0.452).ConclusionThe misophonia participants presented a lower percentage of correct responses in the dichotic sentence identification test with chewing sound; suggesting that individuals with misophonia may have selective attention impairment when they are exposed to sounds that trigger this condition.     

Estimation of phase signal change in neuronal current MRI for evoke response of tactile detection with realistic somatosensory laminar network model

Magnetic field generated by neuronal activity could alter magnetic resonance imaging (MRI) signals but detection of such signal is under debate. Previous researches proposed that magnitude signal change is below current detectable level, but phase signal change (PSC) may be measurable with current MRI systems. Optimal imaging parameters like echo time, voxel size and external field direction, could increase the probability of detection of this small signal change. We simulate a voxel of cortical column to determine effect of such parameters on PSC signal. We extended a laminar network model for somatosensory cortex to find neuronal current in each segment of pyramidal neurons (PN). 60,000 PNs of simulated network were positioned randomly in a voxel. Biot–savart law applied to calculate neuronal magnetic field and additional phase. The procedure repeated for eleven neuronal arrangements in the voxel. PSC signal variation with the echo time and voxel size was assessed. The simulated results show that PSC signal increases with echo time, especially 100/80 ms after stimulus for gradient echo/spin echo sequence. It can be up to 0.1 mrad for echo time = 175 ms and voxel size = 1.48 × 1.48 × 2.18 mm³. With echo time less than 25 ms after stimulus, it was just acquired effects of physiological noise on PSC signal. The absolute value of the signal increased with decrease of voxel size, but its components had complex variation. External field orthogonal to local surface of cortex maximizes the signal. Expected PSC signal for tactile detection in the somatosensory cortex increase with echo time and have no oscillation.