1000 Friends of Florida - presentation

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Identification of Thrombosis Modifier Genes Using ENU Mutagenesis in the Mouse.

Abnormal formation of a blood clot in veins, also called venous thromboembolism (VTE), is a major health problem in Western societies that affects 1 in every 1,000 individuals per year. Susceptibility to VTE is governed by both genetic and environmental factors, with approximately 60% of the risk attributed to genetic influences. The most prevalent genetic risk factor among VTE patients is a variant in coagulation factor V, called Factor V Leiden (FVL). While 20-25% of VTE patients carry the FVL variant, only ~10% of FVL carriers develop a VTE in their lifetime, indicating that interactions between FVL and other genetic and/or environmental factors influence the incidence and severity of thrombosis. The goal of this thesis was to identify modifier genes that help understand the differences in VTE phenotype among FVL carriers and more generally the complex genetic factors regulating hemostasis balance. The work described here took advantage of the synthetic lethal thrombosis phenotype observed in mice carrying two copies of the orthologous FVL (F5L/L) mutation together with haploinsufficiency for tissue factor pathway inhibitor (Tfpi+/-). F8 deficiency was found to ‘rescue’ F5L/L Tfpi+/- lethality, and an initial ENU mutagenesis screen for dominant thrombosis modifier genes additionally identified F3 and Actr2 as suppressors for this lethal phenotype (Chapter II). During the genetic analysis of the ENU-induced mutations, we additionally identified a de novo deletion in Nbeal2 which originated from a non-ENU treated parent, highlighting the potentially confounding effect of spontaneous mutation events in well-characterized mouse strains. Though initially considered a plausible thrombosis modifier, this mutation failed to rescue the synthetic lethal thrombosis (Chapter III). A complementary burden test that highlights genes enriched for mutations applied to >100 independent F5L/L Tfpi+/- rescues identified 12 novel candidate thrombosis modifiers. Preliminary validation data using independent null alleles suggest successful rescue for mice haploinsufficient for Sntg1 (Chapter IV).PhDHuman GeneticsUniversity of Michigan, Horace H. Rackham School of Graduate Studieshttp://deepblue.lib.umich.edu/bitstream/2027.42/120801/1/tomberg_1.pd

Enhancing the Performance of Local Long-Term Care Ombudsman Programs in Ohio: Chartbook

This is a state-level case-study of the performance of local Long-Term Care Ombudsman Programs in Ohio. In surveying all of the local program directors in Ohio, along with a group of key informants, we identify major strengths and challenges the program is likely to face in the future. Funding and staffing emerge as prominent issues, particularly in determining the longer-term educational and advocay roles these programs ideally fulfill

Evaluation of Ohio's assisted living Medicaid waiver program : Consumer access and satisfaction

This report is one among four that represents an evaluation of Ohio s Assisted Living Medicaid Waiver program. This part provides a profile of individuals who enrolled in the Assisted Living Waiver Program. Data on the demographic and functional health of residents and their satisfaction with services are presented for those who enrolled during the initial implementation period. The report also presents information on those who were found to be eligible, but chose not to enroll and those who left the program after moving into a participating facility

Konduktivitas termal papan komposit berlapis dari ampas tebu dan serat sabut kelapa dengan variasi perekat urea formaldehida

Penelitian papan komposit berbasis ampas tebu dan serat sabut kelapa dengan variasi urea formaldehid telah berhasil dilakukan.Tujuan dari penelitian ini yaitu menganalisis pengaruh dari varisi perekat urea formaldehid terhadap konduktivitas termal pada papan komposit.Penelitian ini dilakukan menggunakan alat Thermal Conductivity Apparatus. Papan komposit dibuat struktur tiga lapis dengan perbandingan ampas tebu dan serat sabut kelapa 50:50 dengan tebunya sebagai face dan back sehingga perbandingan yang awalnya 50 dibagi menjadi dua. Variasi kadar perekat urea formladehida yang digunakan pada penelitian ini yaitu 6%,8%,10%,12%,dan 14%. Hasil penelitian menunjukan hasil konduktivitas termal dari setiap sampel berkisar antara 0,029 W/m.K. sampai dengan 0,069 W/m.K. Hasil nilai konduktivits termal dan kerapatan dari penelitian yang dilakukan bervariasi. Untuk nilai konduktivitas termal yang baik didapatkan pada sampel 3 dengan nilai 0,026 W/m.K. Untuk penambahan kadar perekat sangat berpengaruh terhadap nilai konduktivitas termal. Dan variasi dari hasil konduktivitas termal sampel Hal ini diduga pada proses pencampuran(blending) antara perekat dengan ampas tebu dan serat sabut kelapa  tidak tersebar secara rata pada seluruh bagian papan komposit dikarenakan proses pencampuran secara manual sehingga menyebabkan sebaran perekat pada serbuk tidak merata pada seluruh bagian papan komposit dan hanya terkonsentrasi hanya dibeberapa bagian

Retrospective evaluation of inpatients admitted to a tertiary hospital in Somalia for Pediatric surgery

Objective: The aim is to reflect on the epidemiology of the patient population at a tertiary hospital for pediatric surgery, diagnostic pattern, and mortality in Somalia retrospectively. Methods: In this study, 163 patient who were hospitalized to Pediatric Surgery Clinic of Mogadishu Somalia Turkey Recep Tayyip Erdoğan Training and Research Hospital in 2018 were included. Data regarding age, gender, diagnosis, surgical condition, mortality rate and cause of the death were recorded from the patient charts and the institutional digital database Results: Of 163 patients 47 were female (28.8%) and 116 were male (71.2%). The mean age of the patients was 6.4 ± 4.8 years. The main diagnoses were congenital malformation (34.4%), acute abdomen (25.8%), traumatic injury (23.3%), infection (9.8%) and neoplasm (6.1%). Mortality rate was 9.8% and the leading cause of death was sepsis by 87.5%. Perforated appendicitis, intestinal obstruction and intussusception were creating the 68.7% of the diseases that result in death. Conclusions: Our results show that two-thirds of the surgical deaths could be prevented with timely presentation. We think that the health policymakers in Somalia should focus on how to improve the access to surgical care, patient transfer, timely presentation, and training of pediatric surgeons and to overcome the poor surgical outcomes. Keywords: Surgery; children; epidemiology; mortality; Somalia

Tuberculous Meningitis in Adults: A Review of 160 Cases

Objective. This study aimed to evaluate epidemiological, clinical, laboratory, and neuroimaging features of 160 adult patients with tuberculous meningitis (TBM) according to “Thwaites' diagnostic index.” Methods. The subjects of this retrospective study are the patients with TBM who were followed up between years 1998 and 2009 in a tertiary referral hospital. Diagnosis of TBM was based on clinical, laboratory, and neuroimaging signs and Thwaites' diagnostic index. Results. Mycobacterium tuberculosis was isolated from CSF in 59 of 148 patients. Seventeen percent of the patients died, 71% recovered completely, and 13% recovered with neurological sequel at the end of the sixth month. Conclusions. Despite new developments in laboratory or neuroimaging techniques, the diagnosis of TBM is still based on clinical features with the help of laboratory. Early diagnosis by suspecting TBM may prevent therapy delay and may result in decrease in the mortality and morbidity