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Although the ability to recognise familiar faces is a critical part of everyday life, the process by which a face becomes familiar in the real world is not fully understood. Previous research has focussed on the importance of perceptual experience. However, in natural viewing, perceptual experience with faces is accompanied by increased knowledge about the person and the context in which they are encountered. Although conceptual information is known to be crucial for the formation of new episodic memories, it requires a period of consolidation. It is unclear, however, whether a similar process occurs when we learn new faces. Using a natural viewing paradigm, we investigated how the context in which events are presented influences our understanding of those events and whether, after a period of consolidation, this has a subsequent effect on face recognition. The context was manipulated by presenting events in 1) the original sequence, or 2) a scrambled sequence. Although this manipulation was predicted to have a significant effect on conceptual understanding of events, it had no effect on overall visual experience with the faces. Our prediction was that this contextual manipulation would affect face recognition after the information has been consolidated into memory. We found that understanding of the narrative was greater for participants who viewed the movie in the original sequence compared to those that viewed the movie in a scrambled order. To determine if the context in which the movie was viewed had an effect on face recognition, we compared recognition in the original and scrambled condition. We found an overall effect of conceptual knowledge on face recognition. That is, participants who viewed the original sequence had higher face recognition compared to participants who viewed the scrambled sequence. However, our planned comparisons did not reveal a greater effect of conceptual knowledge on face recognition after consolidation. In an exploratory analysis, we found that overlap in conceptual knowledge between participants was significantly correlated with the overlap in face recognition. We also found that this relationship was greater after a period of consolidation. Together, these findings provide new insights into the role of non-visual, conceptual knowledge for face recognition during natural viewing., Competing Interests: Declaration of competing interest The authors declare no competing interests., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: To evaluate the diagnostic yield of pancreatic cancer screening in individuals at risk (IAR) from familial pancreatic cancer (FPC) families with respect to the presence or absence of pathogenic germline variants predisposing to pancreatic adenocarcinoma (PDAC)., Design: In a 20 years period, IAR from FPC families were enrolled in a prospective screening program of the national case collection for FPC of Germany, including magnet resonance imaging (MRI) and endoscopic ultrasound (EUS). The diagnostic yield was analyzed regarding significant pancreatic lesions such as PDAC, high-grade pancreatic-intraepithelial-neoplasia (PanIN3) and intraductal-papillary-mucinous-neoplasia (IPMN) with high-grade dysplasia. Screening results were compared between carriers of pathogenic variants and variant-negative IAR., Results: 337 IAR, including 74 (22%) variant-carriers and 263 IAR of variant-negative FPC families (mean age 49; standard deviation [SD] + 8.9) were followed 64 (SD + 55) months. IAR underwent 5.1 (SD + 3.9) screening visits with 1733 MRI (5.1,SD + 3.9 per IAR) and 728 EUS (2.2,SD + 1.7 per IAR). In 12 (4%) cases, significant pancreatic lesions were detected, including 4 PDAC, 3 PanIN3 and 5 high-grade IPMN. Three of 4 IAR with PDAC died after a mean of 27 months postoperatively, and one IAR is alive without evidence of disease after 31 months. The diagnostic yield for significant lesions was 13.5% (10/74) for variant carriers compared to 0.8% (2/263) for IAR of variant-negative FPC families (p < 0.001). Logistic regression analysis revealed that a negative variant status was almost always accompanied by the absence of a significant lesion over time with a negative predictive value of 99.2% (95% CI 97.3%-99.9%)., Conclusion: The diagnostic yield seems to justify PDAC screening in IAR of FPC-families with pathogenic germline variants in PDAC predisposing genes, not in IAR of variant-negative families., (© 2024 The Author(s). United European Gastroenterology Journal published by Wiley Periodicals LLC on behalf of United European Gastroenterology.)

Purpose: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects., Methods: While conducting an extensive review of the most recent scientific evidence on the unusual glucagonoma familial forms, we analyzed the MEN1 gene in a 35-year-old female with MEN1, as well as her son and daughter, using Sanger and next-generation sequencing (NGS) approaches. We additionally explored the functional and structural consequences of the identified variant using in silico analyses., Results: NGS did not show any known pathogenic variant in the tested regions. However, a new non-conservative variant in exon 4 of MEN1 gene was found in heterozygosity in the patient and in her daughter, resulting in an amino acid substitution from hydrophobic cysteine to hydrophilic arginine at c.703T > C, p.(Cys235Arg). This variant is absent from populations databases and was never reported in full papers: its characteristics, together with the high specificity of the patient's clinical phenotype, pointed toward a possible causative role., Conclusion: Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas., (© 2024. The Author(s).)

Introduction: Little is known about regular users' perceptions of partial (Level 2) automation or how those perceptions affect behind-the-wheel behavior., Method: A mixed mode (phone and online) survey explored the habits, expectations, and attitudes among regular users of General Motors Super Cruise (n = 200), Nissan/Infiniti ProPILOT Assist (n = 202), and Tesla Autopilot (n = 202)., Results: All three groups reported being more likely to engage in non-driving-related activities while using their systems than while driving unassisted. Super Cruise and Autopilot users especially were more likely to report engaging in activities that involved taking their hands off the wheel or their eyes off the road. Many Super Cruise and Autopilot users also said they could perform secondary (non-driving-related) tasks better and more often while using their systems, while fewer ProPILOT Assist users shared this opinion. Super Cruise users were most likely and ProPILOT Assist users least likely to think that secondary activities were safer to perform while using their systems. While some drivers said they found user safeguards (e.g., attention reminders, lockouts) annoying and tried to circumvent them, most people said they found them helpful and felt safer with them. Large percentages of users (53% Super Cruise, 42% Autopilot and 12% ProPILOT Assist) indicated they were comfortable treating their systems as self-driving., Conclusions: Some regular users have a poor understanding of their technology's limits. System design appears to contribute to user perceptions and behavior. However, owner populations also differ, which means habits, attitudes, and expectations may not generalize. Most people value user safeguards, but some implementations may not be effective for everyone., Practical Applications: Multifaceted, proactive user-centric safeguards are needed to shape proper behavior and understanding about drivers' roles and responsibilities while using partial driving automation., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 National Safety Council and Elsevier Ltd. All rights reserved.)

Speech is more intelligible when it is spoken by familiar than unfamiliar people. If this benefit arises because key voice characteristics like perceptual correlates of fundamental frequency or vocal tract length (VTL) are more accurately represented for familiar voices, listeners may be able to discriminate smaller manipulations to such characteristics for familiar than unfamiliar voices. We measured participants' (N = 17) thresholds for discriminating pitch (correlate of fundamental frequency, or glottal pulse rate) and formant spacing (correlate of VTL; 'VTL-timbre') for voices that were familiar (participants' friends) and unfamiliar (other participants' friends). As expected, familiar voices were more intelligible. However, discrimination thresholds were no smaller for the same familiar voices. The size of the intelligibility benefit for a familiar over an unfamiliar voice did not relate to the difference in discrimination thresholds for the same voices. Also, the familiar-voice intelligibility benefit was just as large following perceptible manipulations to pitch and VTL-timbre. These results are more consistent with cognitive accounts of speech perception than traditional accounts that predict better discrimination., (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)

While it is well established that humans develop stronger relationship bonds when they share stressful experiences, there is little known on how shared stressful experiences may influence relationship bonding in animals. Here, we present a study looking at social proximity between individuals in small groups of Merino ewes following a shared stressful experience compared with control sheep that were not exposed to stress. Some sheep were familiar to each other. Analyses of social proximity using real-time-kinematic Global Navigation Satellite System (GNSS) on-animal devices showed sheep preferred to be closest to familiar individuals, but across the study duration they also developed a preference for the individuals they shared the stressful experience with, relative to their proximity to control individuals. These results contribute to limited research on what factors may instigate the development of bonds between unfamiliar sheep. Between-individual bonds may develop as a means of socially mediated stress buffering. Social bonding following a shared stressful experience aligns with human social relationships and increases our understanding of how animals perceive their conspecifics in relation to stressful environmental change.

Introduction: This study analysed the psychometric properties of the Spanish version of the Pediatric Quality of Life Questionnaire Family Impact Module (PedsQL FIM) in the Argentinian population., Patients and Methods: The sample included 232 caregivers, of who 108 were parents of children with chronic diseases (mean, 9.54; standard deviation [SD], 4.43) and 124 parents of children in the general population (mean, 12.37; SD, 4.6)., Results: We assessed the validity of the instrument with the known-groups method, finding significant differences between the case and control groups in the overall and subscale scores (P < .01). We also assessed test validity by means of exploratory factor analysis, which yielded an 8-factor model that explained 74.03% of the variance. We assessed reliability with the Cronbach alpha and found a high internal consistency (α=0.95)., Conclusion: The PedsQL module proved to be a valid and reliable tool to assess the impact of a chronic paediatric condition on caregiver quality of life and family functioning., (Copyright © 2022 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Successful recognition of familiar faces is thought to depend on the ability to integrate view-dependent representations of a face into a view-invariant representation. It has been proposed that a key intermediate step in achieving view invariance is the representation of symmetrical views. However, key unresolved questions remain, such as whether these representations are specific for naturally occurring changes in viewpoint and whether view-symmetric representations exist for familiar faces. To address these issues, we compared behavioural and neural responses to natural (canonical) and unnatural (noncanonical) rotations of the face. Similarity judgements revealed that symmetrical viewpoints were perceived to be more similar than non-symmetrical viewpoints for both canonical and non-canonical rotations. Next, we measured patterns of neural response from early to higher level regions of visual cortex. Early visual areas showed a view-dependent representation for natural or canonical rotations of the face, such that the similarity between patterns of response were related to the difference in rotation. View symmetric patterns of neural response to canonically rotated faces emerged in higher visual areas, particularly in face-selective regions. The emergence of a view-symmetric representation from a view-dependent representation for canonical rotations of the face was also evident for familiar faces, suggesting that view-symmetry is an important intermediate step in generating view-invariant representations. Finally, we measured neural responses to unnatural or non-canonical rotations of the face. View-symmetric patterns of response were also found in face-selective regions. However, in contrast to natural or canonical rotations of the face, these view-symmetric responses did not arise from an initial view-dependent representation in early visual areas. This suggests differences in the way that view-symmetrical representations emerge with canonical or non-canonical rotations. The similarity in the neural response to canonical views of familiar and unfamiliar faces in the core face network suggests that the neural correlates of familiarity emerge at later stages of processing., (Copyright © 2022 The Authors. Published by Elsevier Ltd.. All rights reserved.)

The surface texture of the face is proposed to be the dominant cue in face recognition. In this study, we investigated the role of shape information in face recognition. We compared the roles of shape and surface texture in the recognition of face identity using familiar and unfamiliar hybrid faces in which the average shape from one facial identity was combined with the average texture of a different identity. In the first experiment (n = 53), participants had to match the name of a familiar person to one of eight hybrid face images. In texture trials, all images had the correct shape, but only one image had the correct texture. In shape trials, all images had the correct texture, but only one image had the correct shape. Importantly, neither task could be performed by perceptual matching. Although performance was lower for the shape trials (81%) compared to texture trials (99%), both were significantly above chance (12.5%). In the second experiment (n = 110), participants had to name hybrid faces. There were two potentially correct answers for each face image: one based on the texture and one based on the shape. Participants reported the correct name based on the texture on 61% of trials and the correct name based on the shape on 12% of trials. In the third experiment (n = 19), fMR-adaptation was used to measure the neural sensitivity to changes in the shape or texture. The core face-selective regions showed a similar sensitivity to shape and texture. These findings confirm that texture is the dominant cue for face recognition, but also show that shape plays an important role in the recognition and neural response to familiar faces., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Background: The fourth type of multiple endocrine neoplasia (MEN) is known as a rare variant of MEN presenting a MEN1-like phenotype and originating from a germline mutation in CDKN1B. However, due to the small number of cases documented in the literature, the peculiar clinical features of MEN4 are still largely unknown, and clear indications about the clinical management of these patients are currently lacking. In order to widen our knowledge on MEN4 and to better typify the clinical features of this syndrome, we present two more cases of subjects with MEN4, and through a review of the current literature, we provide some possible indications on these patients' management., Case Presentation: The first report is about a man who was diagnosed with a metastatic ileal G2-NET at the age of 34. Genetic analysis revealed the mutation p.I119T (c.356T>C) of exon 1 of CDKN1B, a mutation already reported in the literature in association with early-onset pituitary adenomas. The second report is about a 76-year-old woman with a multifocal pancreatic G1-NET. Genetic analysis identified the CDKN1B mutation c.482C>G (p.S161C), described here for the first time in association with MEN4 and currently classified as a variant of uncertain significance. Both patients underwent biochemical and imaging screening for MEN1-related diseases without any pathological findings., Conclusions: According to the cases reported in the literature, hyperparathyroidism is the most common clinical feature of MEN4, followed by pituitary adenoma and neuroendocrine tumors. However, MEN4 appears to be a variant of MEN with milder clinical features and later onset. Therefore, these patients might need a different and personalized approach in clinical management and a peculiar screening and follow-up strategy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Lavezzi, Brunetti, Smiroldo, Nappo, Pedicini, Vitali, Trivellin, Mazziotti and Lania.)

Introduction: Adolescence is a critical life stage marked by significant physical, psychological, and social change. Cancer diagnosis during adolescence profoundly affects this experience for adolescents and young adults (AYA) and their families with an impact that continues throughout life. It is important to understand these experiences to ensure delivery of appropriate and high-quality supportive care. This narrative review critically appraised and synthesised qualitative literature that explored the experiences of AYAs and their families living with cancer., Method: Narrative review and synthesis of qualitative research of AYAs' and their families' experiences of cancer. MEDLINE, CINAHL and PsycINFO were searched between February 2000 and September 2019 using search terms including "adolescent", "young people", "young adult", "cancer", "family", and "qualitative". Literature was appraised and synthesised using Popay et al.'s 1 framework., Results: 3016 articles were retrieved (Medline n=1298, CINAHL n=1632, PsycINFO n=86). Of these, 151 duplicates were removed. 2865 papers were screened with 121 abstracts considered for eligibility for inclusion. Eighteen papers met the inclusion criteria. Three inter-related themes were identified: being diagnosed with cancer; uncertainty - holding on to life and gaps in care delivery., Discussion and Recommendations: Few studies discuss the impact of cancer on the families of AYA living with cancer. Future research should explore this experience. By doing so the relational impact of cancer will be better understood as the basis of supportive family-centred care. PROSPERO Registration: CRD42017084148., (Crown Copyright © 2021. Published by Elsevier España, S.L.U. All rights reserved.)

Advocacy is an essential element to mental health practitioners' professional identity. Some scholars contend that many couple and family therapists lack the skill set needed to effectively advocate. However, these researchers often discuss advocacy solely on the macrolevel, which makes advocacy appear unidimensional and may feel out of reach for many practitioners. In this article, we argue that advocacy is not unidimensional, but consists of two levels: macro- and microlevel advocacy. Microlevel advocacy is client-centered and is effectively performed by couple and family therapists on a regular basis. By broadening the definition of advocacy to include the microlevel, we argue that advocacy is a common process of couple and family therapy that cuts across therapy models and is interwoven into the very being of a couple and family therapist. We present in this article a comprehensive case vignette to illustrate how microlevel advocacy may be performed by CFTs. Clinical and training implications are offered to help clinicians begin to bridge the gap between micro- and macrolevel advocacies., (© 2020 Family Process Institute.)

Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a minority appears in well-known hereditary syndromes that associate thyroid cancer among many other clinical manifestations. However, in more than 95% of cases, thyroid cancer appears isolated, and its genetic causes have yet to be elucidated. We review here the current knowledge of the genetic basis of this pathology, as well as its clinical characteristics. Understanding the genetic mechanisms implied would help to comprehend the metabolic pathways involved, with the consequent potential therapeutic application. In addition, it would allow genetic counseling and to focus our efforts on patients at risk of developing this disorder., (Copyright © 2020 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.)

Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a minority appears in well-known hereditary syndromes that associate thyroid cancer among many other clinical manifestations. However, in more than 95% of cases, thyroid cancer appears isolated, and its genetic causes have yet to be elucidated. We review here the current knowledge of the genetic basis of this pathology, as well as its clinical characteristics. Understanding the genetic mechanisms implied would help to comprehend the metabolic pathways involved, with the consequent potential therapeutic application. In addition, it would allow genetic counseling and to focus our efforts on patients at risk of developing this disorder., (Copyright © 2020 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Adolescence is a critical life stage marked by significant physical, psychological, and social change. Cancer diagnosis during adolescence profoundly affects this experience for adolescents and young adults (AYA) and their families with an impact that continues throughout life. It is important to understand these experiences to ensure delivery of appropriate and high-quality supportive care. This narrative review critically appraised and synthesised qualitative literature that explored the experiences of AYAs and their families living with cancer., Method: Narrative review and synthesis of qualitative research of AYAs' and their families' experiences of cancer. MEDLINE, CINAHL and PsycINFO were searched between February 2000 and September 2019 using search terms including "adolescent", "young people", "young adult", "cancer", "family", and "qualitative". Literature was appraised and synthesised using Popay et al.'s 1 framework., Results: 3016 articles were retrieved (Medline n=1298, CINAHL n=1632, PsycINFO n=86). Of these, 151 duplicates were removed. 2865 papers were screened with 121 abstracts considered for eligibility for inclusion. Eighteen papers met the inclusion criteria. Three inter-related themes were identified: being diagnosed with cancer; uncertainty - holding on to life and gaps in care delivery., Discussion and Recommendations: Few studies discuss the impact of cancer on the families of AYA living with cancer. Future research should explore this experience. By doing so the relational impact of cancer will be better understood as the basis of supportive family-centred care. PROSPERO Registration: CRD42017084148., (Crown Copyright © 2021. Published by Elsevier España, S.L.U. All rights reserved.)

Research on oxytocin (OT) has provided crucial insight into the neuroendocrine mechanisms of social behavior and human-animal interactions. Nonetheless, this peptide hormone remains challenging to sample, usually requiring invasive measures in the brain or blood, which limits its use. We conducted an analytical validation of the measurement of OT in the saliva of three common farm animal species: pigs, cattle and goats. We then investigated the biological significance of salivary OT concentrations by using a positive human-animal interaction paradigm. The paradigm varied in terms of human familiarity and included a control condition where the animal was alone in the testing pen. A total of 18 pigs, 18 cattle and 9 goats were subjected to each condition using a within-individual counterbalanced design. Animals were free to choose to interact with the human. Saliva samples were collected immediately before and after the 10-min test, and behavior during the test was analyzed. Oxytocin could be reliably measured by ELISA in the saliva of goats (without extraction), and in the saliva of pigs and cattle after extraction. Salivary OT concentration did not change consistently according to testing condition. However, salivary OT concentration was significantly associated with some behaviors, with different relationships depending on the species. In conclusion, OT can be reliably measured in the saliva of goats and, after extraction, in the saliva of pigs and cattle. The relationships of OT with human-animal interactions and animal behavior were complex and to some extent species-dependent, possibly reflecting the perception of the interaction by the animal., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Introduction: The classic form of trigeminal neuralgia is usually sporadic (no familial clustering). However, around 2% of all cases of trigeminal neuralgia may be familial. Describing this entity may be useful for diagnosing this process and may also be key to determining the underlying causes of sporadic classical trigeminal neuralgia. We report on cases in a series of 5 families with at least 2 members with classic trigeminal neuralgia, amounting to a total of 11 cases., Material and Methods: We recorded cases of familial classical trigeminal neuralgia between March 2014 and March 2015 by systematically interviewing all patients with a diagnosis of trigeminal neuralgia who visited the neurology department on an outpatient basis., Results: In our sample, most patients with familial classic trigeminal neuralgia were women. Mean age at onset was 62.9±13.93 years, decreasing in subsequent generations. V2 was the most frequently affected branch. Most of our patients responded well to medical treatment, and surgery was not effective in all cases., Conclusions: These family clusters support the hypothesis that classic trigeminal neuralgia may have a genetic origin. Several causes have been suggested, including inherited anatomical changes affecting the base of the skull which would promote compression of the trigeminal nerve by vascular structures, familial AHT (resulting in tortuous vessels that would compress the trigeminal nerve), and mutations in the gene coding for calcium channels leading to hyperexcitability. Classic trigeminal neuralgia may be an autosomal dominant disorder displaying genetic anticipation., (Copyright © 2017 The Author(s). Publicado por Elsevier España, S.L.U. All rights reserved.)

Objective: The OAB-FIM was developed as a measure of the impact of an overactive bladder (OAB) on relatives who live with the patient. The objective of this study was conduct a cultural adaptation to Spanish (Spain) of the OAB-FIM questionnaire., Methods: The adaptation included a conceptual and linguistic validation phase, as well as a phase for measuring the psychometric properties in 25 relatives [mean age, 63.0 years (SD, 14.3); 44% women] who regularly live with patients with OAB, who are of either sex and 18 years of age or older. We measured conceptual and linguistic equivalence, internal reliability, construct validity and content validity. We assessed the applicability and administration load., Results: The OAB-FIM was conceptually and linguistically equivalent to the original, maintaining its 6 domains: social, travel, worry, irritability, sleep and sex. The interagreement correctly placed all items in their domain, except for number 10, which was placed more in worry than in irritability, motivates its reformulation. Some 2.95% of the items were missing. The floor and ceiling effects of the items varied, respectively, between 20-28%, and 0-16%. The mean time for completing the questionnaire was 5.2minutes (SD, 2.8), and 24% of the participants required some type of assistance. The α-Cronbach coefficient varied between 0.948-0.839. The correlations with similar scales in the family were moderate-high (0.407-0.753) or small-moderate with those administered to the patient (0.004-0.423)., Conclusion: We obtained a Spanish (Spain) version of the OAB-FIM that was conceptually and linguistically equivalent to the original. The questionnaire showed good internal consistency, content and construct validity and applicability., (Copyright © 2017. Publicado por Elsevier España, S.L.U.)

Previous research into the reliability of forensic craniofacial reconstruction (CFR) has focused primarily on the accuracy of reconstructed faces from European or African ancestry skulls. Moreover, the recognition of CFR in relation to the experience and ancestry of the practitioners and the assessors has not been previously considered. The cross-race effect is a recognised phenomenon in psychology studies, where familiar ancestry faces are recognised more readily than unfamiliar ancestry faces, but there is a paucity of research addressing the relationship between the accuracy of reconstructed faces and the familiarity with this ancestry by the practitioners/assessors. The aims of this research were to investigate whether 'unfamiliar-race effect' has any influence on the accuracy of CFR and to evaluate how much the correct recognition rate of CFR is affected by the cross-race effect. Eight CFRs from three ancestry groups were produced by experienced practitioners in order to explore the aims. The results demonstrated that practitioners produced more recognisable CFRs using skulls from a familiar ancestry than skulls from unfamiliar ancestries., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Background: Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features., Case Presentation: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30. One year later, she had ataxia, bulbar paralysis, bowel and bladder urgency. Her mother had a similar neurological symptoms and died within 2 years after onset (at the age of 47), and her maternal aunt also had similar but mild symptoms at the onset age of 54-year-old. Her brain magnetic resonance imaging (MRI) showed abnormal signals in periventricular white matter with severe atrophy in the medulla oblongata and thoracic spinal cord, and mild atrophy in cervical spinal cord, which is unusual in the adult form of AxD. She and her daughter's glial fibrillary acidic protein (GFAP) gene analysis revealed the same heterozygous missense mutation, c.1246C > T, p.R416W, despite of no neurological symptoms in her daughter., Conclusions: Our case report enriches the understanding of the familial adult AxD. Genetic analysis is necessary when patients have the above mentioned symptoms and signs, MRI findings, especially with family history.

The ability to recognise familiar faces with ease across different viewing conditions contrasts with the inherent difficulty in the perception of unfamiliar faces across similar image manipulations. Models of face processing suggest that this difference is based on the neural representation for familiar faces being more invariant to changes in the image, than it is for unfamiliar faces. Here, we used an fMR-adaptation paradigm to investigate neural correlates of image-invariant face recognition in face-selective regions of the human brain. Participants viewed faces presented in a blocked design. Each block contained different images of the same identity or different images from different identities. Faces in each block were either familiar or unfamiliar to the participants. First, we defined face-selective regions by comparing the response to faces with the response to scenes and scrambled faces. Next, we asked whether any of these face-selective regions showed image-invariant adaptation to the identity of a face. The core face-selective regions showed image-invariant adaptation to familiar and unfamiliar faces. However, there was no difference in the adaptation to familiar compared to unfamiliar faces. In contrast, image-invariant adaptation for familiar faces, but not for unfamiliar faces, was found in face-selective regions of the medial temporal lobe (MTL). Taken together, our results suggest that the marked differences in the perception of familiar and unfamiliar faces may depend critically on neural processes in the medial temporal lobe., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

A full understanding of face recognition will involve identifying the visual information that is used to discriminate different identities and how this is represented in the brain. The aim of this study was to explore the importance of shape and surface properties in the recognition and neural representation of familiar faces. We used image morphing techniques to generate hybrid faces that mixed shape properties (more specifically, second order spatial configural information as defined by feature positions in the 2D-image) from one identity and surface properties from a different identity. Behavioural responses showed that recognition and matching of these hybrid faces was primarily based on their surface properties. These behavioural findings contrasted with neural responses recorded using a block design fMRI adaptation paradigm to test the sensitivity of Haxby et al.'s (2000) core face-selective regions in the human brain to the shape or surface properties of the face. The fusiform face area (FFA) and occipital face area (OFA) showed a lower response (adaptation) to repeated images of the same face (same shape, same surface) compared to different faces (different shapes, different surfaces). From the behavioural data indicating the critical contribution of surface properties to the recognition of identity, we predicted that brain regions responsible for familiar face recognition should continue to adapt to faces that vary in shape but not surface properties, but show a release from adaptation to faces that vary in surface properties but not shape. However, we found that the FFA and OFA showed an equivalent release from adaptation to changes in both shape and surface properties. The dissociation between the neural and perceptual responses suggests that, although they may play a role in the process, these core face regions are not solely responsible for the recognition of facial identity., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

People are extremely proficient at discriminating the identity of familiar faces, but are significantly worse with unfamiliar faces. Despite this clear behavioural difference in perception, the neural correlates of the advantage for familiar faces remain unclear. Here, we use an individual differences approach to explore the link between neural responses in face-selective regions and the behavioural advantage for the perception of familiar faces. First, we compared performance on an identity matching task with either familiar or unfamiliar faces. We found that participants were significantly better at matching the identity of familiar compared to unfamiliar faces. Next, we used fMRI to measure the response to familiar and unfamiliar faces. Consistent with the behavioural data, there was a significant difference in the neural response to familiar and unfamiliar faces in face-selective regions. Finally, we asked whether interindividual variation in behavioural performance could be predicted by corresponding variation in fMRI response. We found a significant correlation in the right fusiform face area (rFFA) between the difference in response to familiar and unfamiliar faces and corresponding differences on the face-matching task. That is, participants who showed a larger response to familiar compared to unfamiliar faces in the rFFA also matched familiar faces much more accurately than unfamiliar faces. No other face-selective region showed a correlation between neural and matching accuracy. These results provide a link between activity in the rFFA and the perception of familiar faces., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

This study tests the inclusion of social support as a distinct exogenous variable in the Biobehavioral Family Model (BBFM). The BBFM is a biopsychosocial approach to health that proposes that biobehavioral reactivity (anxiety and depression) mediates the relationship between family emotional climate and disease activity. Data for this study included married, English-speaking adult participants (n = 1,321; 55% female; M age = 45.2 years) from the National Comorbidity Survey Replication, a nationally representative epidemiological study of the frequency of mental disorders in the United States. Participants reported their demographics, marital functioning, social support from friends and relatives, anxiety and depression (biobehavioral reactivity), number of chronic health conditions, and number of prescription medications. Confirmatory factor analyses supported the items used in the measures of negative marital interactions, social support, and biobehavioral reactivity, as well as the use of negative marital interactions, friends' social support, and relatives' social support as distinct factors in the model. Structural equation modeling indicated a good fit of the data to the hypothesized model (χ(2)  = 846.04, p = .000, SRMR = .039, CFI = .924, TLI = .914, RMSEA = .043). Negative marital interactions predicted biobehavioral reactivity (β = .38, p < .001), as did relatives' social support, inversely (β = -.16, p < .001). Biobehavioral reactivity predicted disease activity (β = .40, p < .001) and was demonstrated to be a significant mediator through tests of indirect effects. Findings are consistent with previous tests of the BBFM with adult samples, and suggest the important addition of family social support as a predicting factor in the model., (© 2014 Family Process Institute.)

During an unannounced encounter between two humans and a proactive humanoid (NAO, Aldebaran Robotics), we study the dependencies between the human partners' affective experience (measured via the answers to a questionnaire) particularly regarding feeling familiar and feeling frightened, and their arm and head motion [frequency and smoothness using Inertial Measurement Units (IMU)]. NAO starts and ends its interaction with its partners by non-verbally greeting them hello (bowing) and goodbye (moving its arm). The robot is invested with a real and useful task to perform: handing each participant an envelope containing a questionnaire they need to answer. NAO's behavior varies from one partner to the other (Smooth with X vs. Resisting with Y). The results show high positive correlations between feeling familiar while interacting with the robot and: the frequency and smoothness of the human arm movement when waving back goodbye, as well as the smoothness of the head during the whole encounter. Results also show a negative dependency between feeling frightened and the frequency of the human arm movement when waving back goodbye. The principal component analysis (PCA) suggests that, in regards to the various motion measures examined in this paper, the head smoothness and the goodbye gesture frequency are the most reliable measures when it comes to considering the familiar experienced by the participants. The PCA also points out the irrelevance of the goodbye motion frequency when investigating the participants' experience of fear in its relation to their motion characteristics. The results are discussed in light of the major findings of studies on body movements and postures accompanying specific emotions.

Background: Well-differentiated papillary mesothelioma (WDPM) is a rare variant of epithelioid mesothelioma and is considered to be associated with good prognosis due to its clinically indolent behavior and long survival. Most reported cases involve the peritoneum of women at reproductive age with no history of exposure to asbestos, with pleural involvement being less common. The optimal management, including the role of chemotherapy in the treatment of WDPM, remains unsettled., Patients and Methods: The authors describe two cases of WDPM in women of the same family (siblings); the elder with WDPM of the pleura and peritoneum with a 12-year survival period and the younger with a WDPM of the peritoneum diagnosed in 2011 and uveal melanoma diagnosed in 2012. Neither patient had any known exposure to asbestos fibers or any other mineral carcinogens., Results: After the concurrent diagnosis of WDPM and uveal melanoma, genetic diagnosis was carried out taking into consideration that these two malignancies were recently associated with hereditary BAP1 gene mutations and it was positive for both the patients., Conclusions: To our knowledge, this is the first description of WDPM in two siblings who also presented with a germline BAP1 mutation. This article provides evidence of the wide clinical spectrum of cancer susceptibility associated with a BAP1 germline mutation.

A key question in cognitive neuroscience is how the brain combines low-level features processed in remote sensory cortices to represent meaningful multisensory objects in our everyday environment. Models of visual object processing typically assume a feedforward cascade through the hierarchically organized ventral stream. We contrasted this feedforward view with an alternate hypothesis in which object processing is viewed as an interactive, feedforward and feedback process. We found that higher-order regions in anterior temporal (AT) and inferior prefrontal cortex (IPC) performed audio-visual (AV) integration 100 ms earlier than a sensory-driven region in the posterior occipital (pO) cortex, and were modulated by semantic variables (congruency), from as early as 50-100 ms. We propose that the brain represents familiar and complex multisensory objects through early interactivity between higher-order and sensory-driven regions. This interactivity may underpin the enhanced behavioral performance reported for semantically congruent AV objects.

The occipital face area (OFA) is face-selective. This enhanced activation to faces could reflect either generic face and shape-related processing or high-level conceptual processing of identity. Here we examined these two possibilities using a state-dependent transcranial magnetic stimulation (TMS) paradigm. The lateral occipital (LO) cortex which is activated non-selectively by various types of objects served as a control site. We localized OFA and LO on a per-participant basis using functional MRI. We then examined whether TMS applied to either of these regions affected the ability of participants to decide whether two successively presented and physically different face images were of the same famous person or different famous people. TMS was applied during the delay between first and second face presentations to investigate whether neuronal populations in these regions played a causal role in mediating the behavioral effects of identity repetition. Behaviorally we found a robust identity repetition effect, with shorter reaction times (RTs) when identity was repeated, regardless of the fact that the pictures were physically different. Surprisingly, TMS applied over LO (but not OFA) modulated overall RTs, compared to the No-TMS condition. But critically, we found no effects of TMS to either area that were modulated by identity repetition. Thus, we found no evidence to suggest that OFA or LO contain neuronal representations selective for the identity of famous faces which play a causal role in identity processing. Instead, these brain regions may be involved in the processing of more generic features of their preferred stimulus categories.