Natural compulsive‐like behaviour in the deer mouse (Peromyscus maniculatus bairdii) is associated with altered gut microbiota composition

Obsessive–compulsive disorder (OCD) is a psychiatric illness that significantly impacts affected patients and available treatments yield suboptimal therapeutic response. Recently, the role of the gut–brain axis (GBA) in psychiatric illness has emerged as a potential target for therapeutic exploration. However, studies concerning the role of the GBA in OCD are limited. To investigate whether a naturally occurring obsessive–compulsive‐like phenotype in a rodent model, that is large nest building in deer mice, is associated with perturbations in the gut microbiome, we investigated and characterised the gut microbiota in specific‐pathogen‐free bred and housed large (LNB) and normal (NNB) nest‐building deer mice of both sexes (n = 11 per group, including three males and eight females). Following baseline characterisation of nest‐building behaviour, a single faecal sample was collected from each animal and the gut microbiota analysed. Our results reveal the overall microbial composition of LNB animals to be distinctly different compared to controls (PERMANOVA p < .05). While no genera were found to be significantly differentially abundant after correcting for multiple comparisons, the normal phenotype showed a higher loading of Prevotella and Anaeroplasma, while the OC phenotype demonstrated a higher loading of Desulfovermiculus, Aestuariispira, Peptococcus and Holdemanella (cut‐off threshold for loading at 0.2 in either the first or second component of the PCA). These findings not only provide proof‐of‐concept for continued investigation of the GBA in OCD, but also highlight a potential underlying aetiological association between alterations in the gut microbiota and the natural development of obsessive–compulsive‐like behaviours.     

Case Report of Small Cell Carcinoma of the Ovary,Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment.     

HLA alleles in Brazilian patients with fissured tongue

Background Fissured tongue (FT) is a clinical condition manifested by numerous little furrows on the tongue’s surface. Previously, the authors observed an association with HLA‐C×06 in psoriasis (PS) and benign migratory glossitis (BMG); however, HLA‐C was not surveyed in FT. Objective This study investigated the association between HLA alleles and FT. Methods Thirty‐three FT bearers were studied, after evaluation of criteria for inclusion. These patients did not present PS, BMG or any other conditions associated with FT. The control group (CG) was composed of 561 individuals with HLA‐A, 560 individuals with HLA‐B, 168 individuals with HLA‐C, 564 individuals with HLA‐DRB1 and 390 individuals with HLA‐DQB1. Samples from these individuals were processed to extract DNA. The HLA classes I and II were determined using the reverse line blot technique. The frequencies of HLA antigens found in patients were compared with the CG using Fisher’s exact test. Results The comparison of the frequencies of HLA antigens found in the patient groups and in CG revealed no association with any of the alleles studied, except for HLA‐A*01, which exhibited a decreased frequency in patient groups. HLA‐C*06 was detected in 7.57% of FT patients and 10.42% of the CG (not significant). Conclusion The lack of association of FT with HLA‐C*06 reinforces the proposal that this disease does not have a common genetic factor in the triad of BMG, FT and PS.     

Partial volume effects in dynamic contrast magnetic resonance renal studies

This is the first study of partial volume effect in quantifying renal function on dynamic contrast enhanced magnetic resonance imaging. Dynamic image data were acquired for a cohort of 10 healthy volunteers. Following respiratory motion correction, each voxel location was assigned a mixing vector representing the ‘overspilling’ contributions of each tissue due to the convolution action of the imaging system's point spread function. This was used to recover the true intensities associated with each constituent tissue. Thus, non-renal contributions from liver, spleen and other surrounding tissues could be eliminated from the observed time-intensity curves derived from a typical renal cortical region of interest. This analysis produced a change in the early slope of the renal curve, which subsequently resulted in an enhanced glomerular filtration rate estimate. This effect was consistently observed in a Rutland-Patlak analysis of the time-intensity data: the volunteer cohort produced a partial volume effect corrected mean enhancement of 36% in relative glomerular filtration rate with a mean improvement of 7% in r² fitting of the Rutland-Patlak model compared to the same analysis undertaken without partial volume effect correction. This analysis strongly supports the notion that dynamic contrast enhanced magnetic resonance imaging of kidneys is substantially affected by the partial volume effect, and that this is a significant obfuscating factor in subsequent glomerular filtration rate estimation.     

The use of imatinib mesylate has no adverse effects on the heart function. Results of a pilot study in patients with chronic myeloid leukemia

To investigate cardiac effects of imatinib at an extended follow-up (median 12.4 months), 12 chronic myeloid leukemia patients underwent cardiac screening. No significant changes on the frequency of cardiovascular signs and symptoms, electrocardiographic abnormalities, echocardiographic measurements and BNP levels were observed. Median ejection fraction was 67% at baseline versus 68% at follow-up (median intra-patient change 0.5%). Median BNP levels were 8.3 versus 7.3 pg/mL (median intra-patient change 0.2 pg/mL). Troponin I measures were below the lower limit of detection, whereas strain measures were similar to healthy control. This pilot study suggests that it is probably safe to perform cardiac monitoring on an annual basis.     

Validation studies of the Portuguese experimental version of the Montreal Cognitive Assessment (MoCA): confirmatory factor analysis

The Montreal Cognitive Assessment (MoCA) is a cognitive screening instrument created with the purpose of overcoming some of the insufficiencies of the Mini-Mental State Examination (MMSE). The MoCA evaluates more cognitive areas and is comprised of more complex tasks as compared with the MMSE, which makes it a more sensitive instrument in the detection of Mild Cognitive Impairment (MCI), a state that often progresses to dementia. In this study we performed an analysis of the psychometric and diagnostic properties of the Portuguese experimental version of the MoCA in a clinical sample of 212 subjects with MCI and several dementia subtypes in a memory clinic setting. Additionally, we performed a Confirmatory Factor Analysis (CFA) to assess the MoCA’s latent factorial structure. In a clinical population, the MoCA is a valid and reliable instrument with good psychometric properties, revealing high sensitivity in identifying MCI and dementia patients who generally score within the normal range on the MMSE. By using the parcels method, CFA results showed very good/excellent adjustment indexes. The practical implications of this CFA study allow us to propose a two factor model factorial structure for the MoCA: a first factor designated MEMORY, which includes memory, language and orientation subtests (the latter being closely correlated with the former), and a second factor designated ATTENTION/EXECUTIVE FUNCTIONS, comprised of attention, executive functions and visuospacial abilities tasks.