Search

Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chromosomal interval. We describe a proband with a triplication, specifically a “double duplication” (two copies per chromosome) of the 22q11.2 region, while his parents and two siblings each have a single duplication (3 copies). The proband had a heart malformation, dysmorphic features, and learning and socialization deficits, whereas the other family members did not. This family illustrates that while duplication of the 22q11.2 may not be sufficient to cause clinically significant neurodevelopmental or health-related phenotypes, triplication of the same region may result in a phenotype characterized by a mild neurodevelopmental disorder, facial dysmorphism, and possibly cardiac anomalies.

Background: Perinatal mental health problems affect up to one in five women worldwide. Mental health problems in the perinatal period are a particular challenge in low- and middle-income countries (LMICs) where they can be at least twice as frequent as in higher-income countries. It is thus of high priority to develop new low-cost, low-resource, non-stigmatising and culturally appropriate approaches to reduce symptoms of anxiety and depression perinatally, for the benefit of both mother and child. Music-centred approaches may be particularly useful in The Gambia since a range of musical practices that specifically engage pregnant women and new mothers already exist.\ud \ud Methods: This protocol is for a study to examine the feasibility of undertaking a stepped wedge trial to test how a Community Health Intervention through Musical Engagement (CHIME) could be beneficial in alleviating perinatal mental distress in The Gambia. In this study, we plan to recruit 120 pregnant women (n = 60 intervention, n = 60\ud control) at four antenatal clinics over two 6-week stepped sequences. Women in the intervention will participate in weekly group-singing sessions, led by local Kanyeleng singing groups, for 6 weeks. The control group will receive standard care. We will assess symptoms of anxiety and depression using the Edinburgh Postnatal Depression Scale (EPDS) and the Self-Reporting Questionnaire (SRQ-20). The feasibility of the design will be assessed through recruitment, retention and attrition rates of participants, clinics' adherence to the schedule and completeness of data by site. Qualitative interviews and video and audio recordings will be used to evaluate the acceptability of the intervention.\ud \ud Discussion: This feasibility trial will allow us to determine whether a larger trial with the same intervention and target group is feasible and acceptable in The Gambia.

The Medication Use Patterns, Treatment Satisfaction, and Inadequate Control of Osteoporosis Study (MUSIC-OS) is a prospective, observational study of women with osteoporosis in Europe and Canada. At baseline, patients with gastrointestinal symptoms reported lower adherence to osteoporosis treatment, treatment satisfaction, and health-related quality of life, than those without gastrointestinal symptoms. INTRODUCTION: The aim of the study was to examine gastrointestinal (GI) symptoms and the association between GI symptoms and treatment adherence, treatment satisfaction, and health-related quality of life (HRQoL) among osteoporotic women in Europe and Canada. METHODS: Baseline results are reported here for a prospective study which enrolled postmenopausal, osteoporotic women who were initiating (new users) or continuing (experienced users) osteoporosis treatment at study entry (baseline). A patient survey was administered at baseline and included the occurrence of GI symptoms during 6-month pre-enrolment, treatment adherence (adherence evaluation of osteoporosis (ADEOS), score 0-22), treatment satisfaction (Osteoporosis Treatment Satisfaction Questionnaire for Medications (OPSAT-Q), score 0-100) and HRQoL (EuroQol-5 dimension (EQ-5D) utility, score 0-1; OPAQ-SV, score 0-100). The association between GI symptoms and ADEOS (experienced users), OPSAT-Q (experienced users), and HRQoL (new and experienced users) was assessed by general linear models adjusted for patient characteristics. RESULTS: A total of 2959 patients (2275 experienced and 684 new users) were included. Overall, 68.1 % of patients experienced GI symptoms in the past 6 months. Compared with patients without GI symptoms, patients with GI symptoms had lower mean baseline scores on most measures. The mean adjusted differences were ADEOS, -0.43; OPSAT-Q, -5.68; EQ-5D, -0.04 (new users) and -0.06 (experienced users), all P < 0.01. GI symptoms were also associated with lower OPAQ-SV domain scores: physical function, -4.17 (experienced users); emotional status, -4.28 (new users) and -5.68 (experienced users); back pain, -5.82 (new users) and -11.33 (experienced users), all P < 0.01. CONCLUSIONS: Patients with GI symptoms have lower treatment adherence and treatment satisfaction and worse HRQoL than patients without GI symptoms.

We provide a companion to the recent Benyi-Curgus generalization of the well-known theorems of Ceva and Menelaus, so as to characterize both the collinearity of points and the concurrence of lines determined by six points on the edges of a triangle. A companion for the generalized area formula of Routh appears, as well., 5 pages, 8 figures

1. Female southern elephant seals (Mirounga leonina L. ) expend variable, often large, amounts of their stored body resources on their pups during lactation. There is some evidence that pups with higher weaning masses have a better chance of survivingtheir first year. But in order to understand what level of maternal investment is required to produce successful pups, we need to understand the behaviour and problems faced by naove pups before nutritional independence. :2. We used satellite telemetry to track 30 newly weaned pups on their first trip to sea from their natal site at Macquarie Island in 1995 and 1996. Track duration varied from 2 to 179 (mean, 77) days. Seven seals were tracked for the entire duration oftheir first trip. :3. The movements were grouped into three phases. Phase 1 (mean duration 30 days) was characterized by rapid and directed dispersal from Macquarie Island at daily travel rates of up to 140 km d-1. Phase 2 (mean duration 67 days) consisted of slower travel rates (generally < 20 km d-1) where activity was often centred on localized patches up to 1900 km from Macquarie Island. This phase was sometimes interrupted by bouts of increased travel rate as the seal moved to another patch. Phase 3 (mean duration 42 days) consisted of prolonged increased travel rates as the seals returned to Macquarie or, in one case, Chatham Island. :4. The routes of the tracks to the south-east were very similar. Simulated tracks based on a constant heading of magnetic east, at variable swimming speed, and modified by ocean current vectors produced a pattern similar to, but not identical to, the south-east tracks. The tracks to the west and south were more diverse and meandering. :5. Based on a nearest neighbour analysis, neither sex, year nor weaning mass influenced Phase 1-2 or Phase 2-3 transition locations. :6. Phase 2 tracks were associated in the south-eastern group with the Pacific Antarctic Ridge and in the south-west group, to a lesser extent, with the Indian Antarctic Ridge. The southern limits of Phase 2 tracks in the south-eastern group aligned with the southern Antarctic Circumpolar Circulation front. :7. Using calculated estimates of body composition at weaning and estimates of the rate of utilization of body reserves for the period before animals reach phase 2 of their trip, we estimate that large pups will have reserves remaining to supply their needs whereas pups in the small group are approaching critical limits. However, these estimates are based on several assumptions and extrapolations. More information on body composition of pups at weaning and departure is needed along with behavioural information to clarify the value of maternal expenditure in terms of offspring survival.