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X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in the CHRDL1 gene and it is inherited as an X-linked recessive trait affecting only males. Here, we describe the results of phenotypic and genetic assessment in a novel XMC pedigree. Three subjects (a father and his two daughters) underwent a complete clinical and imaging ocular examination including biomicroscopy, fundoscopy, tonometry, visual acuity, Pentacam Scheimpflug imaging, anterior segment Swept Source OCT, and ultrabiomicroscopy. Genetic analysis was performed through whole exome sequencing in 3 family members. Candidate variants were validated by sanger sequencing The affected father exhibited megalocornea, very deep anterior chambers, retrocorneal pigmentation, iris atrophy, queer iris configuration, extremely open iridocorneal angles, and cataracts. Notably, both daughters showed queer iris configuration and abnormally widely open iridocorneal angles in both eyes. Genetic analysis identified a novel hemizygous c.207+1G>A splicing variant in CHRDL1 in the affected father. Both mildly affected daughters were heterozygous for the pathogenic variant. Here, we report an additional XMC family due to a novel mutation in the CHRDL1 gene. Mild anterior segment anomalies were observed in two heterozygous carriers demonstrating for the first time a CHRDL1-linked phenotype in females. A detailed comparison of the clinical and genetic features of this pedigree with those observed in previously published XMC cases is also presented. [ABSTRACT FROM AUTHOR]

Background: There is increased recognition that traumatic events are a common experience among college students, and such events have shown to be associated with negative mental health outcomes and poorer well-being among this population. Although some work has focused on the relation between trauma exposure and mental health among college students, little work has explored the role of individual difference in fatigue severity within this group. Purpose: Therefore, the current study sought to address this gap in the existing literature by examining the explanatory role of fatigue severity in terms of anxiety/depression and post-traumatic stress among trauma exposed college students. Further, the mechanistic role of emotion dysregulation was evaluated as a possible factor that may underlie the relation between fatigue severity and mental health. Method: Seven hundred and thirty trauma-exposed college students were included in the present study (78.6% female, Mage = 22.59 years, SD = 5.48; 55.3% racial minority). Results: Results revealed that individual differences in fatigue severity had a significant indirect effect on the studied internalizing symptoms through emotion dysregulation. Conclusion: These novel findings suggest future work should continue to explore emotion dysregulation in the association between fatigue severity and internalizing symptoms among trauma-exposed college students. [ABSTRACT FROM AUTHOR]

Objective:This study examined the prevalence and correlates of probable posttraumatic stress disorder (PTSD) in freshman entering college and prospective associations of probable PTSD with additional outcomes. Participants: 2,310 students with data collected from Fall 2014 through Spring 2015. Methods: Incoming freshman completed a survey assessing for relevant variables at the beginning of fall semester and during the spring semester. Results: Seventy percent of the sample endorsed experiencing at least one potentially traumatic event (PTE). 34.4% of PTE exposed individuals met criteria for probable PTSD. Female sex, higher depressive and anxiety symptoms, and interpersonal PTE count were positively associated with PTSD symptoms. Higher PTSD symptoms were associated with higher anxiety and depressive symptoms, and new-onset interpersonal PTE. Conclusions: Identification of factors contributing to risk for PTSD is essential to inform prevention and intervention efforts. Intervention efforts should be targeted to students experiencing PTSD symptoms as they enter college. [ABSTRACT FROM AUTHOR]

Objective: High rates of sexual victimization among college students necessitate further study of factors associated with sexual assault risk detection. The present study examined how social information processing relates to sexual assault risk detection as a function of sexual assault victimization history. Participants: 225 undergraduates (Mage = 19.12, SD = 1.44; 66% women). Methods: Participants completed an online questionnaire assessing victimization history, an emotion identification task, and a sexual assault risk detection task between June 2013 and May 2014. Results: Emotion identification moderated the association between victimization history and risk detection such that sexual assault survivors with lower emotion identification accuracy also reported the least risk in a sexual assault vignette. Conclusions: Findings suggest that differences in social information processing, specifically recognition of others' emotions, are associated with sexual assault risk detection. College prevention programs could incorporate emotional awareness strategies, particularly for men and women who are sexual assault survivors. [ABSTRACT FROM AUTHOR]

Attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) commonly co-occur. With the DSM-5, clinicians are permitted to make an ASD diagnosis in the context of ADHD. In earlier versions of the DSM, this was not acceptable. Both ASD and ADHD are reported to have had substantial increases in prevalence within the past 10 years. As a function of both the increased prevalence of both disorders as well as the ability to make an ASD diagnosis in ADHD, there has been a significant amount of research focusing on the comorbidity between ADHD and ASD in the past few years. Here, we provide an update on the biological, cognitive and behavioral overlap/distinctiveness between the two neurodevelopmental disorders with a focus on data published in the last four years. Treatment strategies for the comorbid condition as well as future areas of research and clinical need are discussed. [ABSTRACT FROM PUBLISHER]

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder affecting children, adolescents, and adults. The prevalence is estimated at 5 to 7% of school-aged children and 2.5 to 5% of adults. The phenotype is complex and heterogeneous, presenting variable clinical features, developmental course, and outcome. The genetic susceptibility to ADHD is attributed to both common and rare variants from a broad range of genes related mainly to neurotransmission and neurodevelopment pathways. However, it has been difficult to identify the genetic risk variants that account for the high heritability of this disorder. In this paper, we present recent findings from molecular genetics studies on both child and adult ADHD. Challenges and future directions for ADHD genetic studies are reviewed and discussed. [ABSTRACT FROM PUBLISHER]

Objective: To examine associations between menstrual cycle phase, negative mood, sexual risk recognition deficits (assessed via an analogue risk vignette), and in vivo emotion dysregulation.Participants: Participants were 714 college women recruited between February 2007 and December 2009.Methods: Participants were randomly assigned to a negative or neutral mood induction and instructed to identify sexual risk during an audiotaped sexual coercion vignette. Participants reported menstrual cycle information, in vivo emotional nonacceptance, and attention during the vignette.Results: In the negative mood condition, ovulation was associated with longer risk recognition latencies relative to the luteal and follicular phases of the menstrual cycle. Increased in vivo emotional nonacceptance and decreased attention to the vignette mediated associations between ovulation and risk recognition deficits in the negative mood condition.Conclusions: Sexual assault risk reduction programs could provide psychoeducation regarding negative mood during ovulation and emphasize emotional acceptance and attention to external stimuli when distressed. [ABSTRACT FROM AUTHOR]

Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to 'immaturity' of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma. [ABSTRACT FROM AUTHOR]

Trafficking of newly synthesized cargo through the early secretory pathway defines and maintains the intracellular organization of eukaryotic cells as well as the organization of tissues and organs. The importance of this pathway is underlined by the increasing number of mutations in key components of the ER export machinery that are causative of a diversity of human diseases. Here we discuss the molecular mechanisms that dictate cargo selection during vesicle budding. While, in vitro reconstitution assays, unicellular organisms such as budding yeast, and mammalian cell culture still have much to offer in terms of gaining a full understanding of the molecular basis for secretory cargo export, such assays have to date been limited to analysis of smaller, freely diffusible cargoes. The export of large macromolecular complexes from the ER such as collagens (up to 300 nm) or lipoproteins (∼500 nm) presents a clear problem in terms of maintaining both selectivity and efficiency of export. It has also become clear that in order to translate our knowledge of the molecular basis for ER export to a full understanding of the implications for normal development and disease progression, the use of metazoan models is essential. Combined, these approaches are now starting to shed light not only on the mechanisms of macromolecular cargo export from the ER but also reveal the implications of failure of this process to human development and disease. [ABSTRACT FROM AUTHOR]

Objective: The authors investigated relationships among prior victimization, risk perceptions, and behavioral choices in responding to drug-facilitated sexual assault in a college party where alcohol is available. Participants and Methods: From fall 2003 to spring 2004, over 400 female undergraduates rated risk perception following an acquaintance rape vignette. Results: In general, participants tended to perceive the risk of having someone else pour their beer; however, they did not tend to perceive the risk of leaving one's beer unattended. Results also indicated that college students who felt ill at a party were not likely to suspect the presence of a date-rape drug and when sexual assault occurred, a significant minority of respondents blamed the victim. Victims of prior sexual assault were more likely to report that they would make risky choices, such as accepting a male acquaintance's offer to help them into their bedroom. Conclusions: Implications for the prevention of sexual assault are discussed. [ABSTRACT FROM AUTHOR]

Objective: The authors investigated relationships among prior victimization, risk perceptions, and behavioral choices in responding to drug-facilitated sexual assault in a college party where alcohol is available. Participants and Methods: From fall 2003 to spring 2004, over 400 female undergraduates rated risk perception following an acquaintance rape vignette. Results: In general, participants tended to perceive the risk of having someone else pour their beer; however, they did not tend to perceive the risk of leaving one's beer unattended. Results also indicated that college students who felt ill at a party were not likely to suspect the presence of a date-rape drug and when sexual assault occurred, a significant minority of respondents blamed the victim. Victims of prior sexual assault were more likely to report that they would make risky choices, such as accepting a male acquaintance's offer to help them into their bedroom. Conclusions: Implications for the prevention of sexual assault are discussed. [ABSTRACT FROM AUTHOR]

Objective: Some information on the prevalence of adverse life experiences is available for the general population and college students, but the extent, nature, and severity of these events is unclear. Participants: The authors recruited undergraduate college students (N = 6,053) from diverse academic settings (public and private schools) and geographic locations. Methods: They examined the prevalence, nature, severity, and disclosure of adverse events, in addition to reports of posttraumatic stress disorder (PTSD) symptomatology within the sample. Results: Across multiple studies, prevalence rates of adverse events ranged from 55.8% to 84.5%, replicating previous findings in larger samples. In a subset of undergraduate students (n = 97) who the authors interviewed in greater depth, 9% reported symptoms of clinical PTSD and an additional 11% reported subclinical symptoms. Conclusions: Research using college samples for the study of stressful life events is a useful and reasonable strategy. The authors discuss implications for research, as well as screening and referral services at universities. [ABSTRACT FROM AUTHOR]

Objective: Some information on the prevalence of adverse life experiences is available for the general population and college students, but the extent, nature, and severity of these events is unclear. Participants: The authors recruited undergraduate college students (N = 6,053) from diverse academic settings (public and private schools) and geographic locations. Methods: They examined the prevalence, nature, severity, and disclosure of adverse events, in addition to reports of posttraumatic stress disorder (PTSD) symptomatology within the sample. Results: Across multiple studies, prevalence rates of adverse events ranged from 55.8% to 84.5%, replicating previous findings in larger samples. In a subset of undergraduate students (n = 97) who the authors interviewed in greater depth, 9% reported symptoms of clinical PTSD and an additional 11% reported subclinical symptoms. Conclusions: Research using college samples for the study of stressful life events is a useful and reasonable strategy. The authors discuss implications for research, as well as screening and referral services at universities. [ABSTRACT FROM AUTHOR]