Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia

Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms. Hyperphagia and childhood obesity is widely reported in Prader-Willi Syndrome (PWS) but there is only one previous report of this presentation in chromosome 22q11.2 deletion syndrome. We describe two further cases of chromosome 22q11.2 deletion syndrome in which hyperphagia and childhood obesity were the presenting features. This may be a manifestation of obsessive behaviour secondary to some of the psychiatric features commonly seen in chromosome 22q11.2 deletion syndrome. Serious complications may result from hyperphagia and childhood obesity therefore early recognition and intervention is crucial. Due to the similar clinical presentation of these two patients to patients with PWS, it is suggested that the hyperphagia seen here should be managed in a similar way to how it is managed in PWS

Prevalence of California Serogroup Viruses on the Avalon Peninsula

Arthropod-borne diseases negatively affect humans worldwide. Understanding the biology of the arthropod vectors and the pathogenic organisms they harbour has been a moving target as a result of climate change, degradation of ecosystems, and long distance travel. Two viruses within the California serogroup (CSV), snowshoe hare virus (SSHV) and Jamestown Canyon virus (JCV), had been identified in Newfoundland, Canada, in a study conducted from 1980-1983. Little work had been done on CSV in Newfoundland in the 30 years since. The current study was designed to determine whether these viruses still persist on the island Are these viruses still persisting on the Island; if so, which mosquito species are vectors of these viruses, and when is infection likely to occur in mammalian hosts? Evidence of infection by SSHV was found in the local snowshoe hare population and sentinel rabbits housed outdoors. The timing of observed infections was associated with peak mosquito activity. Fifteen mosquito species were collected and identified. Two pools of mosquitoes were identified as containing SSHV: one pool containing only Aedes canadensis, and another containing a mixed pool of Aedes pionips, Aedes punctor, and Aedes abserratus. A partial SSHV sequence was obtained from the mosquitoes and phylogenetically analyzed. Based on these findings, SSHV is currently circulating on the Island of Newfoundland

Emotion regulation and residual depression predict psychosocial functioning in bipolar disorder: Preliminary study

This study explores the predictive value of various clinical, neuropsychological, functional, and emotion regulation processes for recovery in Bipolar Disorder. Clinical and demographic information was collected for 27 euthymic or residually depressed BD participants. Seventy one percent of the sample reported some degree of impairment in psychosocial functioning. Both residual depression and problems with emotion regulation were identified as significant predictors of poor psychosocial functioning. In addition, to residual depression, the results of the current study introduce a variable of emotion dysregulation to account for poor psychosocial functioning among BD populations. Improving emotion regulation strategies, in particular, concentration and task accomplishment during negative emotional states could have important consequences for improving overall psychosocial functioning among this population, helping to reduce both the economic burden and high costs to personal wellbeing associated with B

Emotion regulation in bipolar disorder: Are emotion regulation abilities less compromised in euthymic bipolar disorder than unipolar depressive or anxiety disorders?

This study investigated the profile of emotion dysregulation in Bipolar Disorder (BD) and com- pared it to Unipolar Depression, Anxiety, and Heal- thy control groups. Methods: 148 euthymic patients diagnosed with BD (n = 48), Unipolar Depressive dis- order (n = 50), Anxiety disorder (n = 50), and a Healthy Control (HC) group (n = 48) were evaluated using the Difficulties in Emotion Regulation Scale (DERS). The DERS yields a total score in addition to scores on six subcomponents believed to encapsulate the emotion dysregulation construct. Results: Com- pared to the healthy control group, all clinical groups (BD, Unipolar Depression, and Anxiety) reported significantly greater overall difficulties in emotion re- gulation (Total DERS) and difficulties specific to the DERS subcomponent measures: Goals, Impulse, and Strategies. The profile of emotion dysregulation was virtually identical for the Unipolar Depression and Anxiety groups, with BD demonstrating emotion regulation difficulties intermediate between controls and the two clinical groups. Specifically, emotion re- gulation in the BD group was significantly less com-promised in the domains of acceptance of emotions, emotional awareness, and emotional clarity com- pared to the depression and anxiety groups. Conclu- sions: Emotion regulation abilities among people with euthymic BD were significantly less compromised than Unipolar Depression and Anxiety groups with regards to emotional awareness, acceptance of emo- tions, and understanding of emotions. However, emo- tion regulation abilities pertaining to engagement in goal directed behaviour, impulse control, and access to emotion regulation strategies were similarly com- promised across all three clinical groups. This profile might help enrich extant adjunct psychological in- terventions for BD by enlisting emotion regulation strategies with the aim of decreasing the relapse rate that characterises BD

Furious: Technological Feminism and Digital Futures

Furious: Technological Feminism and Digital Futures is an angry feminist intervention disputing the masculinization of computational culture and cultural theory. It draws on feminist genealogies, traditions of writing and approaches to science and technology in order to provide an alternative to heavily material and object oriented turns and to the masculinism, scientism and anti-feminism that dominate both cultural and knowledge production. The book highlights the need to contest the regressively gendered and very often sexist politics of digital media forms, practices and study. It stresses the need to counter ideologies of scientism and anti-feminism and to reconnect feminist practices of thinking and writing with the contemporary problematic in order to re-conceptualize digital media and broader technological futures, pervasive mediation and increasing automation

Chromosomal microarray analysis-a routine clinical genetic test for patients with schizophrenia.

Aetiological diagnosis for patients with schizophrenia was long thought to be impossible. However, genomic abnormalities with clear causal relevance can now be identified in a consistent minority of cases using chromosomal microarray analysis (CMA; also known as array Comparative Genomic Hybridization or array-CGH). Analogous to a karyotype but with dramatically improved genome-wide resolution, CMA can inform diagnosis and clinical management by identifying sub-microscopic segments of missing (deleted) or additional (duplicated) chromosomal material known as copy number variants (CNVs). CMA is sensitive, reliable, and widely available in clinical laboratories around the world, including major medical centres in the developing world. Costs are competitive with other investigations such as neuroimaging. CMA is now a standard first-line diagnostic test for intellectual disability and autism where 10-20% of affected individuals have a clinically-relevant deletion or duplication (1). Widespread application of CMA testing in these populations has increased confidence in diagnostic interpretation, enhanced the prognostic evidence base, and facilitated research progress (2). In our view, the time has come to translate replicated research findings with proven clinical utility into routine diagnostic practice for patients with schizophrenia

Loss to follow-up before and after delivery among women testing HIV positive during pregnancy in Johannesburg, South Africa

HIV-positive pregnant women are at heightened risk of becoming lost to follow-up (LTFU) from HIV care. We examined LTFU before and after delivery among pregnant women newly-diagnosed with HIV

High mobile phone ownership, but low Internet and email usage among pregnant, HIV-infected women attending antenatal care in Johannesburg

We investigated mobile phone usage amongst HIV-positive pregnant women attending antenatal services in a primary care clinic in Johannesburg (n=50). We conducted a semi-structured interview and asked them about their mobile phone, Internet and email use. The median age of the women was 28 years, 36% had moved one or more times in the past year, and most were employed or recently employed, albeit earning low wages. Nearly all women (94%) reported that they did not share their phone and 76% of the SIM cards were registered to the woman herself. The median time with the current phone was one year (range 1 month–6 years) and the median time with the current phone number was three years (range 1 month–13 years). Even though 42% of the participants were from outside South Africa, they all had mobile phone numbers local to South Africa. About one-third of respondents reported Internet use (30%) and about one-fifth reported using email (18%). Overall, 20% accessed the Internet and 10% accessed email on their mobile phone. Mobile phone interventions are feasible amongst HIV-positive pregnant women and may be useful in prevention of mother-to-child transmission of HIV (PMTCT). Email and Internet-based interventions may not yet be appropriate

Acceptability and Feasibility of a Mobile Phone-Based Case Management Intervention to Retain Mothers and Infants from an Option B+ Program in Postpartum HIV Care

The objective of this study was to assess the acceptability and feasibility of a cell phone based case manager intervention targeting HIV-infected pregnant women on highly-active antiretroviral therapy (HAART). Pregnant women ≥36 weeks gestation attending antenatal care and receiving HAART through the Option B+ program at a primary care clinic in South Africa were enrolled into a prospective pilot intervention to receive text messages and telephone calls from a case manager through 6 weeks postpartum. Acceptability and feasibility of the intervention were assessed along with infant HIV testing rates and 10-week and 12-month postpartum maternal retention in care. Retention outcomes were compared to women of similar eligibility receiving care prior to the intervention. Fifty women were enrolled into the pilot from May to July 2013. Most (70 %) were HAART-naive at time of conception and started HAART during antenatal care. During the intervention, the case manager sent 482 text messages and completed 202 telephone calls, for a median of 10 text messages and 4 calls/woman. Ninety-six percent completed the postpartum interview and 47/48 (98 %) endorsed the utility of the intervention. Engagement in 10-week postpartum maternal HIV care was >90 % in the pre-intervention (n = 50) and intervention (n = 50) periods; by 12-months retention fell to 72 % and was the same across periods. More infants received HIV-testing by 10-weeks in the intervention period as compared to pre-intervention (90.0 vs. 63.3 %, p < 0.01). Maternal support through a cell phone based case manager approach was highly acceptable among South African HIV infected women on HAART and feasible, warranting further assessment of effectiveness

High Uptake of Systematic HIV Counseling and Testing and TB Symptom Screening at a Primary Care Clinic in South Africa

BackgroundTimely diagnosis and treatment of tuberculosis (TB) and HIV is important to reduce morbidity and mortality, and break the cycle of ongoing transmission.MethodsWe performed an implementation research study to develop a model for systematic TB symptom screening and HIV counseling and testing (HCT) for all adult clients at a primary care clinic and prospectively evaluate the 6-month coverage and yield, and 18-month sustainability at a primary care clinic in Johannesburg, South Africa.ResultsDuring the first 6 months, 26,515 visits occurred among 12,078 adults. The proportion of adults aware of their HIV status was 43.7% at the start of the first visit, increased to 84.6% at the end of the first visit, and to 90% at end of any visit during the first 6 months. During these 6 months, 1042 clients were newly diagnosed with HIV. HIV prevalence was 22.9% among those newly tested, and 58.9% among all adult clinic clients. High coverage of systematic HCT was sustained across all 18 months. Coverage of systematic HIV-stratified TB symptom screening during first 6-months was also high (89.6%) but only 35.0% of those symptomatic were screened by sputum. During these 6-months, 90 clients had a positive Xpert MTB/RIF assay, corresponding to a TB prevalence of 0.4% among all 23,534 clients TB symptom-screened and 2.8% among the 3,284 clients with a positive TB symptom screen. The initial high coverage of TB symptom screening was not sustained, with coverage of TB symptom screening dropping after the first six months to 70% and assessment by sputum dropping to 15%.ConclusionRoutine, systematic HCT and HIV-stratified TB symptom screening is feasible at primary care level. Systematic HCT doubled the proportion of clients with known HIV status. While HCT was sustainable, coverage of systematic TB screening dropped significantly after the first 6 months of implementation