Medicine and Health Sciences Commons^™

Distinction Between Primary And Secondary Mitochondrial Disease, Niyazov D. M

Manipal Journal of Medical Sciences

Mitochondrial disease refers to a large spectrum of disorders involving defective cellular energy production. Primary mitochondrial disease (PMD) is diagnosed clinically and by genetic testing of mitochondrial and nuclear DNA. However, many disorders have the ‘mitochondrial’ phenotype without an identifiable genetic defect. Even muscle biopsy can be markedly abnormal either due to a PMD or a non-mitochondrial disorder (NMD) affecting mitochondria and giving rise to secondary mitochondrial dysfunction (SMD). Many patients can have clinical signs of mitochondrial dysfunction based on their phenotype, biomarkers, imaging, and muscle biopsy. In these cases, it is often tempting to assign a patient’s phenotype to …

A Case Report On An Ectopic Accessory Parotid Fistula In An Adult: A Dilemma Of Acquired Or Congenital Origin With Delayed Manifestation, Produl Hazarika, Seema Elina Punnoose, Rajeev Chaturvedi, Suneet Kaur Hora

Manipal Journal of Medical Sciences

To our knowledge, this is the second known reported case of ectopic accessory parotid gland fistula in an adult in literature. Congenital parotid duct fistula itself is a rare entity, but even rarer is the occurrence of the fistula in an otherwise healthy adult. A sequential pictorial account has depicted the surgical excision of the fistula in its entirety and histopathology confirmed the parotid fistula. Two months post procedure, the patient continues to be symptom free. We used search engines such as PubMed, Medline, Google Scholar, and Wiley Online library to search published literature

Tamarind Seed Polysaccharides And Their Nanocomposites For Drug Delivery: An Economical, Eco-Friendly And Novel Approach, Rashmirekha Sahoo, Soumendra Sahoo, Saeed Azizi

Manipal Journal of Medical Sciences

The biomedical engineering field has shown to foster innovation in nanotechnology. Facilitated by engineering and biotechnology, biomedical engineering has the potential to significantly influence the pharmaceutical industry. Advancements in nanotechnology can resolve current issues with drug delivery techniques by increasing efficacy or improving patient safety and patient compliance. Natural polysaccharide-based biomaterials are proving to be important in creating innovative drug delivery devices. Biodegradability and biological activity that can be controlled are important properties of polysaccharides. The tamarind industry has various by-products, including the tamarind seed. Tamarind kernel powder (TKP), also known as the decorticated flour of tamarind has been explored …

Doctors – Yesterday, Today And Tomorrow, Raj Warrier

Manipal Journal of Medical Sciences

No abstract provided.

Sleeve Resection – Carcinoma External Auditory Canal, Gangwar Navneeta, Vyas Pratibha, Joshi Narayani

Manipal Journal of Medical Sciences

Malignancies of external auditory canal (EAC) are uncommon. One per million is the annual incidence. Most common is squamous cell carcinoma, followed by adenoid cystic, basal cell carcinoma and melanoma. Consensus on treatment modality may vary due to the rarity of the tumour. We present a case of squamous cell carcinoma of EAC limited to the cartilaginous part l, presenting with intermittent ear discharge for many months. A sleeve resection with safety margin was done and a split-thickness skin grafting was done for reconstruction. There was no immediate complication and no evidence of any recurrence even after one and a …

Fibromatosis Colli - An Infrequent Case Of Neonatal Neck Mass, Madhusudhan Krishnamoorthy, Ram Kumar Sharma Shanmugam, Shahrul Bin Hitam, Khairullah Bin Anuar, Nur Safira Binti Abdul Isa

Manipal Journal of Medical Sciences

Fibromatosis colli presents in 0.4% of infants as a firm palpable mass in the middle or lower thirds of the sternocleidomastoid muscle.1 The typical age of presentation ranges between two to four weeks of life. It is unilateral in 75% of cases and occurs due to fibrosis within the sternocleidomastoid muscle. Although no single entity has been able to explain the etiology, birth trauma is often attributable. Ultrasonography is the initial investigation of choice. This benign condition is often treated conservatively, rarely requiring surgical intervention. Here are two cases from our centre

The Relationship Between Parental Leave Policies And Infant Mortality: Global Policies, Local Practices, Jennifer Balcazar

Honors Theses

Study objective: Increased maternity leave has been shown to have a positive impact on maternal and child health, and increases the length of time that mothers breastfeed their infants. After childbirth, working women must decide if/when they will return to the workforce. These decisions are based on many factors. The purpose of this project is to determine the impact of current United States’ (US) family leave policies on Mississippi mothers’ decisions to return to work after the birth of their first child.

Study Design and Methods: A comprehensive survey was developed to collect information about mothers’ decisions to return to …

High Burden Of Subclinical Lead Toxicity After Phase Out Of Lead From Petroleum In Pakistan, Hafsa Majid, Aysha Habib Khan, Nadeem Ullah Khan, Imran Siddiqui, Farooq Ghani, Lena Jafri

Department of Pathology and Laboratory Medicine

Objective: To evaluate the frequency of subclinical lead toxicity.
Study design: Cross-sectional study.
Place and duration of study: Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, from January 2011 to December 2014.
Methodology: Analysis of laboratory data for blood lead levels (BLL) was performed. Lead was tested by atomic absorption spectrometer. For all subjects, only initial test results were included while the results of repeated testing were excluded. Exemption was sought from institutional ethical review committee. BLL of 2-10 ug/dl and 10-70 ug/dl in children and adults, respectively were taken as subclinical lead toxicity.
Result: Amongst …

Sex-Biased Microrna Expression In Mammals And Birds Reveals Underlying Regulatory Mechanisms And A Role In Dosage Compensation, Maria Warnefors, Katharina Mössinger, Jean Halbert, Anja Studer, Tania Studer, John L. Vandeberg, Isa Lindgren, Amir Fallahshahroudi, Per Jensen, Henrik Kaessmann

School of Medicine Publications

Sexual dimorphism depends on sex-biased gene expression, but the contributions of microRNAs (miRNAs) have not been globally assessed. We therefore produced an extensive small RNA sequencing data set to analyze male and female miRNA expression profiles in mouse, opossum, and chicken. Our analyses uncovered numerous cases of somatic sex-biased miRNA expression, with the largest proportion found in the mouse heart and liver. Sex-biased expression is explained by miRNA-specific regulation, including sex-biased chromatin accessibility at promoters, rather than piggybacking of intronic miRNAs on sex-biased protein-coding genes. In mouse, but not opossum and chicken, sex bias is coordinated across tissues such that …

Tc-Ptp Nuclear Trafficking In Keratinocytes, Mihwa Kim, Liza D. Morales, Dae Joon Kim

School of Medicine Publications

No abstract provided.

Program Evaluation Of A Bundled Educational Intervention To Enhance Implementation Of Professional Exchange Report, Luanne M. Shaw

Doctoral Projects

Communication handover is a source of potential error and risk to patient safety. Electronic-based tools may reduce errors and mitigate risks to patient safety. Electronic tools have been successfully implemented using multiple methods of education and training. Electronic tools vary in functionality and integration with the electronic health record (EHR). A large West Michigan Regional Health System (RHS) implemented a new EHR containing an embedded tool for communication handover called Professional Exchange Report (PER). There was inconsistency in the practice of bedside report by nurses. The RHS planned to use a bundled approach of educational interventions to implement the new …

Cost And Quality Issues In Establishing Hematopoietic Cell Transplant Program In Developing Countries, Shahrukh K. Hashmi, Alok Srivastava, Walid Rasheed, Salman Adil, Tong Wu, Madan Jagasia, Amr Nassar, William Y. K. Hwang, Amir Ali Hamidieh, Hildegard T. Greinix

Section of Haematology/Oncology

The hematopoietic cell transplant (HCT) activity has grown significantly over the past two decades in both developing and developed countries. Many challenges arise in establishing new HCT programs in developing countries, due to scarcity of resources and manpower in expertise in HCT. While cost issues can potentially hinder establishment of new HCT programs in certain regions, the focus on quality and value should be included in the general vision of leadership before establishing an HCT program. The main challenge in most developing countries is the lack of trained/qualified personnel, enormous start-up costs for a tertiary care center, and quality maintenance. …

A License To Kill: Understanding Natural Killer Cell Licensing To Fight Cancer, Jolie Schafer

Dissertations and Theses (Open Access)

Natural killer (NK) cell education is an essential developmental process for NK cell effector function, that renders some NK cells “licensed” and others “unlicensed” (with heightened or lowered effector function potential, respectively) against tumor and targets lacking self-molecules. However, the underlying mechanisms responsible for the heightened effector responses of licensed cells remain unknown. Using NK cells derived from humans and expanded ex vivo we performed high-throughput protein expression analysis, and identified multiple proteins that are differentially regulated in licensed and unlicensed human NK cells before and after inhibition by killer-cell immunoglobulin-like receptors (KIRs) and activation by the NKp46 natural cytotoxicity …

Evaluating The Therapeutic Efficacy Of Restoring Wild-Type P53 Activity In P53-Mutant Tumors, Connie A. Larsson

Dissertations and Theses (Open Access)

The p53 transcription factor is the most frequently altered in human cancers usually via missense mutations that undermine its transcriptional activity. Clinically, TP53 mutations have been shown to be remarkably predictive of refractoriness to treatment, resulting in poor outcome. Consequently, the development of p53 pathway activating agents is rapidly evolving and gaining more attention in cancer therapeutics research, with several small molecule compounds currently in preclinical and clinical trials. However, it remains largely unknown what types or proportions of p53-mutant tumors will respond to p53 restoration-based therapies.

Using a mouse model of Li Fraumeni syndrome, we genetically restored wild-type …

Identity-By-Descent Mapping Identifies Major Locus For Serum Triglycerides In Amerindians Largely Explained By An Apoc3 Founder Mutation, Wen-Chi Hsueh, Anup K. Nair, Sayuko Kobes, Peng Chen, Harald H. H. Goring, Toni I. Pollin, Alka Malhotra, William C. Knowler, Leslie J. Baier, Robert L. Hanson

School of Medicine Publications

Background—Identity-by-descent (IBD) mapping using empirical estimates of IBD allele sharing may be useful for studies of complex traits in founder populations, where hidden relationships may augment the inherent genetic information that can be used for localization.

Methods and Results—Through IBD mapping, using ~400,000 SNPs, of serum lipid profiles we identified a major linkage signal for triglycerides (TG) in 1,007 Pima Indians (LOD=9.23, p=3.5×10−11 on chromosome 11q). In subsequent fine-mapping and replication association studies in ~7,500 Amerindians, we determined that this signal reflects effects of a loss-of-function Ala43Thr substitution in APOC3 (rs147210663) and 3 established functional SNPs in APOA5. …

Transition From Pre-Diabetes To Diabetes And Predictors Of Risk In Mexican-Americans, Shenghui Wu, Joseph B. Mccormick, Joanne E. Curran, Susan P. Fisher-Hoch

School of Medicine Publications

Background: No studies have examined risk factors for the transition from pre-diabetes to diabetes in populations with widespread obesity and diabetes. We determined proximal changes and factors affecting the transition among Mexican-Americans with pre-diabetes.

Methods: Participants with pre-diabetes (n=285) were recruited from our randomly sampled population-based Cameron County Hispanic Cohort. These participants were followed for an average of 27 months with repeat examination every 3 to 4 months. Metabolic health was defined as having less than 2 metabolic abnormalities (e.g., hypertension, elevated low-density lipoprotein, etc). Diabetes was identified as fasting blood glucose ≥126 mg/dL, glycated hemoglobin ≥6.5% and/or on hypoglycemic …

Toxoplasma Modulates Signature Pathways Of Human Epilepsy, Neurodegeneration & Cancer, Huân M. Ngô, Ying Zhou, Hernan Lorenzi, Kai Wang, Ney Alliey Rodriguez

School of Medicine Publications

One third of humans are infected lifelong with the brain-dwelling, protozoan parasite, Toxoplasma gondii. Approximately fifteen million of these have congenital toxoplasmosis. Although neurobehavioral disease is associated with seropositivity, causality is unproven. To better understand what this parasite does to human brains, we performed a comprehensive systems analysis of the infected brain: We identified susceptibility genes for congenital toxoplasmosis in our cohort of infected humans and found these genes are expressed in human brain. Transcriptomic and quantitative proteomic analyses of infected human, primary, neuronal stem and monocytic cells revealed effects on neurodevelopment and plasticity in neural, immune, and endocrine networks. …

Rare, Potentially Pathogenic Variants In Znf469 Are Not Enriched In Keratoconus In A Large Australian Cohort Of European Descent, Sionne E. M. Lucas, Tiger Zhou, Nicholas B. Blackburn, Richard A. Mills, Jonathan Ellis, Paul Leo, Emmanuelle Souzeau, Bronwyn Ridge, Jac C. Charlesworth, Matthew A. Brown

School of Medicine Publications

Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. Coding variants in ZNF469 have been assessed for association with keratoconus in several small studies, with conflicting results. We assessed rare, potentially pathogenic variants in ZNF469 for enrichment in keratoconus patients in a cohort larger than all previous studies combined.

Methods: ZNF469 was sequenced in 385 Australian keratoconus patients of European …

Exome Sequences Of Multiplex, Multigenerational Families Reveal Schizophrenia Risk Loci With Potential Implications For Neurocognitive Performance, Mark Kos, Melanie A. Carless, Juan M. Peralta, Joanne E. Curran, Ellen E. Quillen, Marcio Almeida, August N. Blackburn, Lucy Blondell, David Roalf, Michael F. Pogue-Geile, Harald H. H. Goring, Laura Almasy

School of Medicine Publications

Schizophrenia is a serious mental illness, involving disruptions in thought and behavior, with a worldwide prevalence of about one percent. Although highly heritable, much of the genetic liability of schizophrenia is yet to be explained. We searched for susceptibility loci in multiplex, multigenerational families affected by schizophrenia, targeting protein-altering variation with in silico predicted functional effects. Exome sequencing was performed on 136 samples from eight European-American families, including 23 individuals diagnosed with schizophrenia or schizoaffective disorder. In total, 11,878 non-synonymous variants from 6,396 genes were tested for their association with schizophrenia spectrum disorders. Pathway enrichment analyses were conducted on gene-based …

Association Between Sedentary Time And Quality Of Life From The Osteoarthritis Initiative: Who Might Benefit Most From Treatment?, Daniel Pinto, Jing Song, Jungwha Lee, Rowland W. Chang, Pamela A. Semanik, Linda S. Ehrlich-Jones, Christine A. Pellegrini, Dorothy D. Dunlop

Physical Therapy Faculty Research and Publications

Objective

To investigate the relationship between sedentary behavior and quality-adjusted life years (QALYs) among participants in the Osteoarthritis Initiative.

Design

Longitudinal, observational design.

Setting

Osteoarthritis Initiative cohort.

Participants

Individuals (N=1794) from a prospective, multicenter longitudinal cohort were classified into quantile groups based on average daily sedentary time (most sedentary, quartile 1 [Q1] ≥11.6h; 10.7h≤ Q2

Interventions

Not applicable.

Main Outcome Measures

Individual QALYs were estimated over 2 years from the area under the curve of health-related utility scores derived from the Medical Outcomes Study 12-Item Short-Form Health Survey versus time. The relationship between baseline sedentary behavior and median 2-year QALYs …

Pediatric Psychologists’ Career Satisfaction: 2015 Society Of Pediatric Psychology Workforce Survey Results., Marisa E. Hilliard, Andre A.A. Williams, Astrida S. Kaugars, Peggy Christidis, Karen E. Stamm, Cheryl Brosig, Jessica Valenzuela, Paul M. Robins, Tim Wysocki

Physical Therapy Faculty Research and Publications

Little is known about the career satisfaction of pediatric psychologists, who specialize in psychological research, teaching, and clinical service in the context of pediatric health care. As part of the larger Society of Pediatric Psychology Workforce Survey and in collaboration with the American Psychological Association Center for Workforce Studies, this study aimed to (1) describe the career domains which pediatric psychologists perceive to be important and their satisfaction in each domain, and (2) compare satisfaction of pediatric psychologists across work settings, number of positions, appointment duration, professional roles, career stage, academic rank, and gender. Responses from 336 pediatric psychologists demonstrated …

Factors That Influence Self-Reported Health Changes With Caregiving, Margaret Danilovich, Xiaoling Xiang, Daniel Pinto

Physical Therapy Faculty Research and Publications

Objective: This study examined factors associated with the self-reported change in health status as a result of caregiving. Method: Multinomial logistic regression were performed to examine the sociodemographic characteristics, care recipients’ characteristics, and caregiving experiences that affect caregivers’ perceptions of health affected by caregiving using data from 1,087 caregiver respondents in the Caregiving in the U.S. 2015 data set. Data were collected through an online or telephone survey of randomly selected adults in 50 states. Results: Worsened self-reported health with caregiving occurred for caregivers aged 50 to 64, racial/ethnic minorities, those who lived within 20 min of the care recipient’s …

The Effects Of Perinatal Methamphetamine Use On Maternal And Child Outcomes: Implications For Education Among Bsn Nursing Students, Tina Nguyen

Honors Theses

The implications of methamphetamine use are vast and prevalent in the U.S. This epidemic is also well recognized in Tennessee and in Hamilton County. The number of men and women that continue to use methamphetamine speaks to the importance of this issue. Among these individuals, pregnant women comprise a significant portion of female methamphetamine users across the United States. The potential complications that can arise for not only a mother but also her child due to maternal methamphetamine use pose a much more significant issue. The detrimental effects that a child can experience as a result of maternal methamphetamine use …

Bsn Student's Perspective Of Departmental Honors Thesis: A Case Study Approach, Kathryn Messier

Honors Theses

The purpose of this thesis is to personally recount my experience and adventure constructing a Departmental Honors Thesis in the field of nursing research. This thesis is a case study approach in which I explore the question as to why there is an increase in African American infant mortality as opposed to other races. Nursing implications and theories as well as limitations to the research are included in this study as well. Construction of this thesis was met with great difficulty including an intense literature review, multiple changes in research methodologies, limited clinician participation, etc. Overall, the conclusion of this …

The Role Of Balance And Neck Strength In Youth Concussion, Chris Koch, Jenny Neudorfer, Peter Heuberger, Tel Winegar, Calvin Lee, Jarrett Fegel

Student-Faculty Research - College of Physical Therapy

Concussion: A concussion is a trauma-induced alteration in mental status that may or may not involve loss of consciousness; this can include a direct blow to the head or a blow to the body resulting in the head and brain moving quickly back and forth (1).

Current Screen: Current concussion screen consists of: symptom checklist, cognitive assessment known as Sport Concussion Assessment Tool (SCAT), and Balance Errors Scoring System (BESS) (2).

Purpose: The purpose of this study is to determine an assessment to screen an individual’s risk of sustaining a sport-related concussion.

Hypothesis: We hypothesized the SCAT 4, BESS, Four …

Nurse Perspectives On The Work Impacts Of Decentralized Nursing Unit Design, Susan Mcdevitt

Electronic Theses and Dissertations

This study investigated nurse perspectives on the work impacts of a decentralized inpatient unit model. The study involved two rural acute-care hospitals in rural Nebraska that moved from a centralized to a decentralized inpatient unit design. The researcher conducted focus group discussions with staff and nursing management at both facilities with a total of 28 participants. In addition, the participants completed a 12-item questionnaire using a five-point Likert scale for responding. Focus group discussion and questionnaire were designed to investigate the areas of quality of care, communication, documentation, stress and wellbeing, and transition. Data gathered revealed that on all survey …

Graft And Mesh Use In Vaginal Surgery, Raheela Mohsin Rizvi, Novera G. Chughtai

Department of Obstetrics & Gynaecology

Pelvic organ prolapse and urinary incontinence are among the most common chronic disorders in women. These are common problems whose pathogenesis remains unclear. As life expectancy increases, significantly greater number of women now present with pelvic organ prolapse and urinary incontinence requiring surgical intervention. Currently, the lifetime risk of undergoing prolapse or continence surgery is one in 11, and up to 30% of patients will require repeat reconstructive surgery and repeat surgery for incontinence in 10%. In an attempt to improve surgical outcomes and to preserve vaginal capacity and coital function, a number of synthetic and biological prostheses have been …

Distribution Based Nearest Neighbor Imputation For Truncated High Dimensional Data With Applications To Pre-Clinical And Clinical Metabolomics Studies, Jasmit Shah, Shesh N. Rai, Andrew P. Defilippis, Bradford G. Hill, Aruni Bhatnagar, Guy N. Brock

Brain and Mind Institute

Background: High throughput metabolomics makes it possible to measure the relative abundances of numerous metabolites in biological samples, which is useful to many areas of biomedical research. However, missing values (MVs) in metabolomics datasets are common and can arise due to both technical and biological reasons. Typically, such MVs are substituted by a minimum value, which may lead to different results in downstream analyses.

Results: Here we present a modified version of the K-nearest neighbor (KNN) approach which accounts for truncation at the minimum value, i.e., KNN truncation (KNN-TN). We compare imputation results based on KNN-TN with results …

Empowering Nurses To Use Non-Pharmacological Measures To Help Control Pain In The Postoperative Period, Marie E. Aamodt

Nursing Capstones

No abstract provided.

Pharygeal Cervicobrachial Variant Of Guillian -Barre Syndrome, Hazim Brohi, Marium Mustaqeem, Sundus Khan

Pakistan Journal of Neurological Sciences (PJNS)

Guilain-Barre Syndrome (GBS) is a common cause of Neuro-muscular paralysis with a spectrum of clinical and electrophysiology variants. We present a case of thePharyneo-cervico-brachial type. A 25 yr old male came to the Medical OPD with the complains of one day history of upper limb weakness and decreased flexion of the neck , which was progressively worsening, along-with associated shortness of breath. His systemic inquiry and past medical/surgical histories were insignificant. Physical exam correlated withthe diagnostic criteria of PCB variant of GBS. Diagnosis was confirmed on EMG/NCS,which showed axonal neuropathy involving axillay and musculocutaneousnerve, along with absent F –waves latencies …