OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart muscle samples from 30 patients that had a diagnosis of familial dilated cardiomyopathy and screened for potentially disease-causing mutations in 58 HCM or DCM-related genes.We identified 5 potentially disease-causing OBSCN mutations in 4 samples; one sample had two OBSCN mutations and one mutation was judged to be not disease-related. Also identified were 6 truncating mutations in TTN, 3 mutations in MYH7, 2 in DSP and one each in TNNC1, TNNI3, MYOM1, VCL, GLA, PLB, TCAP, PKP2 and LAMA4. The mean level of obscurin mRNA was significantly greater and more variable in healthy donor samples than the DCM samples but did not correlate with OBSCN mutations. A single obscurin protein band was observed in human heart myofibrils with apparent mass 960 ± 60 kDa. The three samples with OBSCN mutations had significantly lower levels of obscurin immunoreactive material than DCM samples without OBSCN mutations (45±7, 48±3, and 72±6% of control level).Obscurin levels in DCM controls, donor heart and myectomy samples were the same.OBSCN mutations may result in the development of a DCM phenotype via haploinsufficiency. Mutations in the obscurin gene should be considered as a significant causal factor of DCM, alone or in concert with other mutations

Constrained and Unconstrained Optimal Discounted Control of Piecewise Deterministic Markov Processes

International audienceThe main goal of this paper is to study the infinite-horizon expected discounted continuous-time optimal control problem of piecewise deterministic Markov processes with the control acting continuously on the jump intensity $\lambda$ and on the transition measure $Q$ of the process but not on the deterministic flow $\phi$. The contributions of the paper are for the unconstrained as well as the constrained cases. The set of admissible control strategies is assumed to be formed by policies, possibly randomized and depending on the history of the process, taking values in a set valued action space. For the unconstrained case we provide sufficient conditions based on the three local characteristics of the process $\phi$, $\lambda$, $Q$ and the semicontinuity properties of the set valued action space, to guarantee the existence and uniqueness of the integro-differential optimality equation (the so-called Bellman--Hamilton--Jacobi equation) as well as the existence of an optimal (and $\delta$-optimal, as well) deterministic stationary control strategy for the problem. For the constrained case we show that the values of the constrained control problem and an associated infinite dimensional linear programming (LP) problem are the same, and moreover we provide sufficient conditions for the solvability of the LP problem as well as for the existence of an optimal feasible randomized stationary control strategy for the constrained problem

Pattern of liver diseases in Sudanese children

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Liver Biopsy: Is it Safe in Children?

Introduction: The blind liver biopsy technique has been widely used in Sudan as the availability of the ultra sound machines and the committed Pediatrics Radiologist were not always at hands. Liver biopsy is an essential tool in the diagnosis of liver diseases and subsequently, initiating the appropriate treatment.Objective: The aim of the study was to observe the safety of blind liver biopsy in our children. Methods: One hundred fifty consecutive liver biopsies in hospitalized children were evaluated retrospectively. Using a standard percussion technique biopsy sites were chosen and through intercostals space blind liver biopsies were performed by TruCut biopsy needle. The study was conducted at Gafaar Ibn Oaf Specialized Children Hospital ,Khartoum Sudan, over the last five years, between January 2005-January 2010 .Results: The first biopsy sample was considered macroscopically adequate in 94.8% of cases. A definitive histological diagnosis was possible in 99.1% of cases. seventy children were more than 5 years of age and of these 8 (11.4%) complained of pain at the biopsy site, external hemorrhage from the biopsy site was seen in 1 (0.6%) case but no sign of internal hemorrhage was detected during the 24 hours follow up period. No child died following the procedure.Conclusions: Blind liver biopsy in the studied hospitalized children was found to be a safe procedure.Key words: Menghini, intercostal, percutaneous, Cholestatic jaundice, hepatomegaly

Multimedia courseware of road safety education for secondary school students

Cases of accidents involving children keep increasing from time to time.According to the statistic from Malaysian Institute of Road Safety Research (MIROS) has showed that the road accidents which involved the children reveal a significantly high degree of fatalities and injuries.In order to decrease the risk of accident involving children, an initiative to develop a courseware application about road safety have been taken as a precaution step to help children protect their safety on road.This paper will discuss about the multimedia implementation in developing learning courseware to introduce basic road safety knowledge for students within the age 12 to 17 years old.For implementation process, the Rapid Application Development (RAD) approach has been selected as the methodology to develop the courseware.Basically the methodology divided into four phases which are requirement planning, user design, rapid construction, and transition.After development process, a survey was conducted in SMK Mergong which located at Alor Setar in order to get feedback from the student in term of the impacts while using the courseware.From the survey, it showed that the courseware application really help the students to get clearunderstanding about road safety.The use of picture, audio and video in the courseware also become interactive and particularly suitable for level of student’s understanding

A case of missed thoracic fracture masquerading as intra-abdominal injury

Altered mental status in the setting of polytrauma poses a challenge to the emergency team managing the patient. The tendency to miss positive findings in these circumstances increases several folds due to multiple factors such as depressed mental status/intoxication, presence of distracting injuries and concurrent life-threatening injuries that require more urgent attention. In view of this, NEXUS (National Emergency X-Radiography Utilization Study) criteria of clearing the cervical spine was adopted and used worldwide. Consensus on clearance of the other parts of spine is still lacking. This case reports highlights the findings in a 18-yrs-old male who presented with altered mental status, facial pain and abrasion, following a motor vehicle accident. Facial bone fracture was diagnosed and he was discharged. Three days later, he came with severe epigastric pain. Tenderness on palpation was noted at the spine and Computed Tomography (CT) scan was done. Multiple thoracic vertebra fractures were seen. As a conclusion, thorough primary and secondary survey should be done in patients who have regained full consciousness prior to discharge in order to avoid overlooking other serious injuries

Epidemiology of gunshot injuries in Kano, Nigeria

Background: The incidence of civilian gunshot injuries has been reported to be on the increase globally. This study was undertaken to determine the epidemiology of gunshot injuries in Kano, Northern Nigeria. Patients and Methods: A retrospective analysis of patients with gunshot injuries seen at five major government hospitals in Kano metropolis over a four year period (1999-2002). Results: There were 224 cases, with males out-numbering females by a ratio of 27:1. Eighty -one point three percent of patients were aged between 20 and 44 years. The most commonly injured body regions were the lower limbs (31.6%), chest (15.6%), upper limbs (9.4%) and head (9.0%). A fatal outcome was recorded in 12.5% of cases. Most injuries occurred among traders, students, farmers and security agents, and armed robbery attacks and civil conflicts were the aetiological factors in majority of cases. Conclusion: Gunshot injuries are a major cause of morbidity among adult men in Kano. Addressing the root causes of violence such as poverty, unemployment, and substance abuse will reduce the incidence of gunshot injuries in our society. Keywords: gun-shot injuries, firearms, epidemiology Nigerian Journal of Surgical Research Vol. 7(3&4) 2005: 296-29

Pattern of attendance and predictors of default among Nigerian outpatients with schizophrenia

Objective: To assess the pattern of and factors associated with outpatient clinic attendance among patients diagnosed with schizophrenia at a Nigerian psychiatric hospital. Method: This was a cross-sectional descriptive study of 313 consecutiveoutpatients with diagnosis of schizophrenia confirmed with the Structured Clinical Interview for Diagnosis (SCID). Data was collected on sociodemographics, clinic attendance, perceived social support, perceived satisfaction with hospital care and illness severity (assessed using the Brief Psychiatric Rating Scale, BPRS). Logistic regression analysis was used to identify factors associated with outpatient clinic default.Results: Overall, 20.4% respondents were defaulters, with a median duration of clinic nonattendance of 8 weeks. Outpatient clinic defaulters had significantly higher BPRS scores and had missed more outpatient clinicappointments compared with non-defaulters. A significantly higher proportion of defaulters resided more than 20km away from the hospital and reported “not satisfied” with their outpatient care. Being financially constrained was the commonest reason given by defaulters for missing their clinic appointments. The significant predictors of outpatient clinic default included residing more than 20km from the hospital, missing previous appointments and dissatisfaction with outpatient care. Conclusion: Outpatient clinic non-attendance is common among patients with schizophrenia, and is significantly associated with demographic, clinical and service related factors. Interventions targeted at addressing the risk factors for defaulting peculiar to developing country settings similar to the location of this study, could significantly improve treatment outcome.Keywords: Outpatients; Default; Schizophrenia; Non-attendance; Nigeri