Medical Specialties Commons^™

A Compact Guide To The Diagnosis And Management Of Neurofibromatosis Type 1, Timothy Beer, David Strayer, Md, Phd

Department of Pathology, Anatomy, and Cell Biology Resident's Posters

Brief Introduction

Neurofibromatosis type 1 (NF-1) is a multisystem neurocutaneous disorder resulting from mutations in the NF-1 gene on chromosome 17 (q11.2). Mutations in NF-1 result in deficient activity of the tumor suppresor protein neurofibromin, allowing for uncontrolled constitutive activity of the proliferative Raspathway in several neural cell types, including neurons, oligodendrocytes, astrocytes and Schawnn cells. Half of NF-1 cases are inherited in autosomal dominant fashion, while half develop sporadically. The syndrome has 100% penetrance but highly variable expressivity. The prevalence of this syndrome is 1/3,000, making it common enough to warrant YOU, the physician, taking a moment to learn …

Transplantation Of Adult Mouse Ips Cell-Derived Photoreceptor Precursors Restores Retinal Structure And Function In Degenerative Mice, Budd A. Tucker, In-Hyun Park, Sara D. Qi, Henry J. Klassen, Caihui Jiang, Jing Yao, Stephen Redenti, George Q. Daley, Michael J. Young

Publications and Research

This study was designed to determine whether adult mouse induced pluripotent stem cells (iPSCs), could be used to produce retinal precursors and subsequently photoreceptor cells for retinal transplantation to restore retinal function in degenerative hosts. iPSCs were generated using adult dsRed mouse dermal fibroblasts via retroviral induction of the transcription factors Oct4, Sox2, KLF4 and c-Myc. As with normal mouse ES cells, adult dsRed iPSCs expressed the pluripotency genes SSEA1, Oct4, Sox2, KLF4, c-Myc and Nanog. Following transplantation into the eye of immunecompromised retinal degenerative mice these cells proceeded to form teratomas containing tissue comprising all three germ layers. At …

Pediatric Traumatic Putamenal Strokes: Mechanisms And Prognosis, Zain A. Sobani, Arshad Ali

Section of Neurosurgery

Background: Studies have shown that nearly 3% of closed head injuries result in basal ganglia hemorrhages and that this may be a more frequent occurrence in pediatric patients. Various mechanisms based on shearing forces have been implicated in the injury; however, the underlying mechanism leading to the increased incidence in pediatric patients has not been well described. Angiographic data suggest that putamenal perforators in children are more severely stretched at acute angles compared to those in adults, which may be a contributing factor to the increased incidence.
Case description: We discuss a series of five relatively benign cases of traumatic …

Telemedicine And Advanced Technology Research Center: Quarterly Report, January 18, 2010 To April 17, 2011, Bea Babbitt

Telemedicine & Advanced Technology Research Center

Development of a P.O.I. and a Blended Learning Ecology for use in Combat Lifesaver Skills Training for the Army.

Treatment Of Complex Fistula In Ano With Cable-Tie Seton: A Prospective Case Series., Ayaz Ahmad Memon, Ghulam Murtaza, Rizwan Azami, Hasnain Zafar, Tabish Chawla, Altaf Ali Laghari

Department of Surgery Docs

Objective:To determine the fecal incontinence and recurrence rate in Patients with complex fistula in ano managed with cable tie seton at a tertiary care teaching hospital.

Methods:

This is a prospective case series of Patients with complex anal fistula i.e. recurrent fistula or encircling >30% of external anal sphincter, managed with cable tie seton from March 2003 to March 2009. Patients were seen in the clinic after 72 hours of seton insertion under anesthesia and then every other week. Each time the cable-tie was tightened if found loose without anesthesia and incontinence was inquired according to wexner's score.

Results: …

Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenitis (Pfapa) Is A Disorder Of Innate Immunity And Th1 Activation Responsive To Il-1 Blockade., Silvia Stojanov, Sivia Lapidus, Puja Chitkara, Henry Feder, Juan C Salazar, Thomas A Fleisher, Margaret R Brown, Kathryn M Edwards, Michael M Ward, Robert A Colbert, Hong-Wei Sun, Geryl M Wood, Beverly K Barham, Anne Jones, Ivona Aksentijevich, Raphaela Goldbach-Mansky, Balu Athreya, Karyl S Barron, Daniel L Kastner

Department of Pediatrics Faculty Papers

The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever disease in children. However, the pathogenesis is unknown. Using a systems biology approach we analyzed blood samples from PFAPA patients whose genetic testing excluded hereditary periodic fevers (HPFs), and from healthy children and pediatric HPF patients. Gene expression profiling could clearly distinguish PFAPA flares from asymptomatic intervals, HPF flares, and healthy controls. During PFAPA attacks, complement (C1QB, C2, SERPING1), IL-1-related (IL-1B, IL-1RN, CASP1, IL18RAP), and IFN-induced (AIM2, IP-10/CXCL10) genes were significantly overexpressed, but T cell-associated transcripts (CD3, CD8B) were down-regulated. On the …

Early Toxicity Predicts Long-Term Survival In High-Grade Glioma., Y. R. Lawrence, M Wang, Adam Dicker, David W Andrews, Walter J Curran, J M Michalski, L Souhami, W-Ka Yung, M Mehta

Department of Radiation Oncology Faculty Papers

BACKGROUND: Patients with high-grade gliomas are treated with surgery followed by chemoradiation. The risk factors and implications of neurological side effects are not known.

METHODS: Acute and late ≥ grade 3 neurological toxicities (NTs) were analysed among 2761 patients from 14 RTOG trials accrued from 1983 to 2003. The association between acute and late toxicity was analysed using a stepwise logistic regression model. The association between the occurrence of acute NT and survival was analysed as an independent variable.

RESULTS: There were 2610 analysable patients (86% glioblastoma, 10% anaplastic astrocytoma). All received a systemic agent during radiation (83% chemotherapy, 17% …

Identification And Engineering Of Human Variable Regions That Allow Expression Of Stable Single-Chain T Cell Receptors, David H. Aggen, Adam S. Chervin, Francis K. Insaidoo, Kurt H. Piepenbrink, Brian M. Baker, David M. Kranz

Food for Health: Publications

Single-chain antibody fragments (scFv), consisting of two linked variable regions (V_H and V_L), are a versatile format for engineering and as potential antigen-specific therapeutics. Although the analogous format for T cell receptors (TCRs), consisting of two linked V regions (Vα and Vβ; referred to here as scTv), could provide similar opportunities, all wild-type scTv proteins examined to date are unstable. This obstacle has prevented scTv fragments from being widely used for engineering or therapeutics. To further explore whether some stable human scTv fragments could be expressed, we used a yeast system in which display of properly folded …

Takotsubo Cardiomyopathy Vs Acute Myocardial Infarction: Diagnostic Utility Of Subtle Ecg Differences, Asma Saba Syed, Umair Khalid

Section of Cardiology

The clinical findings of Takatsubo Cardiomyopathy and acute myocardial infarction can be very similar. While Takatsubo cardiomyopathy rarely leads to severe complications, acute myocardial infarction can be life threatening. Treatment of both these conditions is different and so it is imperative for clinicians to have a high index of suspicion for either. Several EKG differences between the two entities have been proposed. This article summarizes the EKG changes most likely seen in Takatsubo cardiomyopathy and compares them to those seen in Acute Myocardial infarction.

Elevated Expression Of Squamous Cell Carcinoma Antigen (Scca) Is Associated With Human Breast Carcinoma, Joseph M. Catanzaro, Jennifer L. Guerriero, Jingxuan Liu, Namratha Sheshadri, John J. Chen, Wei-Xing Zhong

Department of Molecular Genetics and Microbiology Faculty Publications

Squamous cell carcinoma antigen (SCCA) belongs to the serine protease inhibitor (Serpin) family of proteins. Elevated expression of SCCA has been used as a biomarker for aggressive squamous cell carcinoma (SCC) in cancers of the cervix, lung, head and neck, and liver. However, SCCA expression in breast cancer has not been investigated. Immunohistochemical analysis of SCCA expression was performed on tissue microarrays containing breast tumor tissues (n = 1,360) and normal breast epithelium (n = 124). SCCA expression was scored on a tiered scale (0-3) independently by two evaluators blind to the patient's clinical status. SCCA expression was observed in …

Methods And Animal Model For Analyzing Age-Related Macular Degeneration, Jayakrishna Ambati

Ophthalmology and Visual Science Faculty Patents

Methods for testing candidate drugs for treatment of age-related macular degeneration are provided. Ccl2-deficient, and Ccr2-deficient mice are used to determine the effect of candidate drugs and treatments on development of age-related macular degeneration. Also provided is a Ccl2-deficient, Ccr2-deficient dual knockout mouse, which is a useful animal model for age-related macular degeneration.

Structured Algorithm For Error Reduction In Chemotherapy Administration, Marianne Bundalian Tejada

Nursing Faculty Presentations

Purpose. To develop an evidence-based structured algorithm tool that might be used by nursing leaders at a cancer center to decrease chemotherapy medication errors.

Background. In spite of available technology and known factors resulting in medication errors, chemotherapy errors remain the major cause of iatrogenic patient morbidity in hospitals (Gilbar, 2001; Heidt et al., 2001 ). A major risk factor for chemotherapy errors is lack of standardization in administration (ordering, dispensing, administration, monitoring). Failure to identify necessary staff skills/aptitude required to prevent errors may also be problematic.

Significance. Use of the developed algorithm may lead to development of evidence-based strategies …

Does Improving Maternal Knowledge Of Vaccines Impact Infant Immunization Rates? A Community-Based Randomized-Controlled Trial In Karachi, Pakistan, Aatekah Owais, Beenish Hanif, Amna R. Siddiqui, Ajmal Agha, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Background: In Pakistan, only 59-73% of children 12-23 months of age are fully immunized. This randomized, controlled trial was conducted to assess the impact of a low-literacy immunization promotion educational intervention for mothers living in low-income communities of Karachi on infant immunization completion rates. Methods: Three hundred and sixty-six mother-infant pairs, with infants aged Results: Baseline characteristics among the two groups were similar. At 4 month assessment, among 179 mother-infant pairs in the intervention group, 129 (72.1%) had received all 3 doses of DPT/Hepatitis B vaccine, whereas in the control group 92/178 (51.7%) had received all 3 doses. Multivariable analysis …

Chelation Therapy As A Treatment For Autism, Cassandra Baty, Rachel Terharr

Festival of Communities: UG Symposium (Posters)

As medical advances continue to be made, there has yet to be an effectively consistent cure to the commonly known condition, Autism. Some researchers and physicians state that by using chelation therapy, it could help cure mercury poisoning in autistic individuals who were affected by vaccines or other sources. Because of the lack of research and knowledge of chelation therapy, there has been some controversy as to the ethics of providing chelation therapy to autistic children. The families that are put through these trials are faced with high costs, and no guarantee that their child could be cured. But to …

Pain Threshold, Tolerance And Catastrophization In Women With Dyspareunia, Jennifer Bivens, Hilary Billings, Jenna Dilauro, Lea Thaler, Marta Meana

Festival of Communities: UG Symposium (Posters)

This study examined the impact of pain and sexual stimuli on the experience of experimentally induced pain, as well as pain threshold, tolerance and catastrophization levels in women with dyspareunia compared to control women.

Should Designer Babies Be Regulated?, Alec Madriaga, Natasha Bates

Festival of Communities: UG Symposium (Posters)

Designer babies have been frequently used to help prevent genetic defect of offspring. The two main procedures that can help prevent offspring of having a genetic defect is by IVF, In Vitro Fertilization, or PGD, Preimplantation Genetic Disorder. It is a topic currently being debated ethically on whether it is okay to design a baby and how far people may take the procedures to design a baby before it gets out of hand. Two sides can be approached to this topic: Should designer babies be regulated or should it not be regulated? A concern that is plaguing the minds of …

Can Female Genital Mutilation Victims Benefit From Corrective Surgery: To Regain Sexual Pleasure And Be “Whole” Once Again?, Monique Sulls

Festival of Communities: UG Symposium (Posters)

Female Genital Mutilation (FGM) is defined by the World Health Organization, (WHO), as the removal or cutting of the external female genitalia. WHO estimates between 100 and 140 million girls and women worldwide currently live with the consequences of FGM. The study finds that through corrective surgery, pre/post therapy, counseling, and sexual education victims to FGM can regain sexual pleasure providing them a chance to be “Whole” once again.

Vaccines Controversy, Jackelin Ruiz, Keith Wellman

Festival of Communities: UG Symposium (Posters)

Our research was conducted on a Vaccine controversy which raised the question on ethics, morality, safety and effectiveness of vaccination on children. The case study we focused on was about a study done by Dr. Andrew Wakefield and twelve other Colleagues, which was published in a well know journal The Lancet. The study has recently been retracted because an investigation found that he failed to mention that his research of the MMR vaccine was funded through solicitors seeking evidence to use against vaccine manufactures (Deer, Brian). To conclude our research we compared the current vaccination rates with the rates …

Myd88 Is Pivotal For Immune Recognition Of Citrobacter Koseri And Astrocyte Activation During Cns Infection., Shuliang Liu, Tammy Kielian

Journal Articles: Pathology and Microbiology

Citrobacter koseri (C. koseri) is a Gram-negative bacterium that can cause a highly aggressive form of neonatal meningitis, which often progresses to establish multi-focal brain abscesses. The roles of Toll-like receptor 4 (TLR4) and its signaling adaptor MyD88 during CNS C. koseri infection have not yet been examined, which is important since recent evidence indicates that innate immune responses are tailored towards specific pathogen classes. Here TLR4 WT (C3H/FeJ) and TLR4 mutant (C3H/HeJ) mice as well as MyD88 KO animals were infected intracerebrally with live C. koseri, resulting in meningitis and ventriculitis with accompanying brain abscess formation. MyD88 KO mice …

Thyroid Tuberculosis: A Case Series And A Review Of The Literature, Uzma Majid, Najmul Islam

Section of Diabetes, Endocrinology and Metabolism

Objective: Tuberculosis of the thyroid gland is a very rare disease. The incidence of extrapulmonary tuberculosis has been showing a progressive increase in the recent years. We present three cases of primary thyroid tuberculosis.

Methods: Two cases were diagnosed on the basis of fine-needle aspiration cytology (FNAC), as they presented with thyroid nodule. The third case was diagnosed on histopathology as the Patient underwent total thyroidectomy for the left-side nodule which was a follicular lesion on FNAC. Tuberculosis was diagnosed on the other lobe.

Results: All three Patients were given antituberculous treatment for nine months, and their nodular lesions completely …

Oxidative Stress Accumulates In Adipose Tissue During Aging And Inhibits Adipogenesis, Hannes M. Findeisen, Kevin J. Pearson, Florence Gizard, Yue Zhao, Hua Qing, Karrie L Jones, Dianne Cohn, Elizabeth B. Heywood, Rafael De Cabo, Dennis Bruemmer

Saha Cardiovascular Research Center Faculty Publications

Aging constitutes a major independent risk factor for the development of type 2 diabetes and is accompanied by insulin resistance and adipose tissue dysfunction. One of the most important factors implicitly linked to aging and age-related chronic diseases is the accumulation of oxidative stress. However, the effect of increased oxidative stress on adipose tissue biology remains elusive. In this study, we demonstrate that aging in mice results in a loss of fat mass and the accumulation of oxidative stress in adipose tissue. In vitro, increased oxidative stress through glutathione depletion inhibits preadipocyte differentiation. This inhibition of adipogenesis is at …

Effect Of Preventive Zinc Supplementation On Linear Growth In Children Under 5 Years Of Age In Developing Countries: A Meta-Analysis Of Studies For Input To The Lives Saved Tool, Aamer Imdad, Zulfiqar Ahmed Bhutta

Woman and Child Health

Introduction:Zinc plays an important role in cellular growth, cellular differentiation and metabolism. The results of previous meta-analyses evaluating effect of zinc supplementation on linear growth are inconsistent. We have updated and evaluated the available evidence according to Grading of Recommendations, Assessment, Development and Evaluation (GRADE) criteria and tried to explain the difference in results of the previous reviews.

Methods:

A literature search was done on PubMed, Cochrane Library, IZiNCG database and WHO regional data bases using different terms for zinc and linear growth (height). Data were abstracted in a standardized form. Data were analyzed in two ways i.e. weighted …

Impact Of Maternal Education About Complementary Feeding And Provision Of Complementary Foods On Child Growth In Developing Countries, Aamer Imdad, Mohammad Yawar Yakoob, Zulfiqar Ahmed Bhutta

Woman and Child Health

Background:Childhood undernutrition is prevalent in low and middle income countries. It is an important indirect cause of child mortality in these countries. According to an estimate, stunting (height for age Z score < -2) and wasting (weight for height Z score < -2) along with intrauterine growth restriction are responsible for about 2.1 million deaths worldwide in children < 5 years of age. This comprises 21 % of all deaths in this age group worldwide. The incidence of stunting is the highest in the first two years of life especially after six months of life when exclusive breastfeeding alone cannot fulfill the energy needs of a rapidly growing child. Complementary feeding for an infant refers to timely introduction of safe and nutritional foods in addition to breast-feeding (BF) i.e. clean and nutritionally rich additional foods introduced at about six months of infant age. Complementary feeding strategies encompass a wide variety of interventions designed to improve not only the quality and quantity of these foods but also improve the feeding behaviors. In this review, we evaluated the effectiveness of two most commonly applied strategies of complementary feeding i.e. timely provision of appropriate complementary foods (+/- nutritional counseling) and education to mothers about practices of complementary feeding on growth. Recommendations have been made for input to the Lives Saved Tool (LiST) model by following standardized guidelines developed by Child Health Epidemiology Reference Group (CHERG).

Methods:

We conducted a systematic review of published randomized and quasi-randomized trials on PubMed, Cochrane Library and WHO regional databases. The included studies were abstracted and graded according to Study Design, limitations, intervention details and outcome effects. The primary outcomes were change in weight and height during the study period among children 6-24 months of age. We hypothesized that provision of complementary food and education of mother …

Impact Of Vitamin A Supplementation On Infant And Childhood Mortality, Aamer Imdad, Mohammad Yawar Yakoob, Christopher Sudfeld, Batool A. Haider, Robert E. Black, Zulfiqar Ahmed Bhutta

Woman and Child Health

Introduction:Vitamin A is important for the integrity and regeneration of respiratory and gastrointestinal epithelia and is involved in regulating human immune function. It has been shown previously that vitamin A has a preventive effect on all-cause and disease specific mortality in children under five. The Purpose of this paper was to get a point estimate of efficacy of vitamin A supplementation in reducing cause specific mortality by using Child Health Epidemiology Reference Group (CHERG) guidelines.

Methods:

A literature search was done on PubMed, Cochrane Library and WHO regional data bases using various free and Mesh terms for vitamin A …

Preventive Zinc Supplementation In Developing Countries: Impact On Mortality And Morbidity Due To Diarrhea, Pneumonia And Malaria, Mohammad Yawar Yakoob, Evropi Theodoratou, Afshan Jabeen, Aamer Imdad, Thomas P. Eisele, Joy Ferguson, Arnoupe Jhass, Igor Rudan, Harry Campbell, Robert E. Black, Zulfiqar Ahmed Bhutta

Woman and Child Health

Background:Zinc deficiency is commonly prevalent in children in developing countries and plays a role in decreased immunity and increased risk of infection. Preventive zinc supplementation in healthy children can reduce mortality due to common causes like diarrhea, pneumonia and malaria. The main objective was to determine all-cause mortality and cause-specific mortality and morbidity in children under five in developing countries for preventive zinc supplementation. Data sources/review methods: A literature search was carried out on PubMed, the Cochrane Library and the WHO regional databases to identify RCTs on zinc supplementation for greater than 3 months in children less than 5 …

Care During Labor And Birth For The Prevention Of Intrapartum-Related Neonatal Deaths: A Systematic Review And Delphi Estimation Of Mortality Effect, Anne C. C. Lee, Simon Cousens, Gary L. Darmstadt, Hannah Blencowe, Robert Pattinson, Neil F. Moran, G. Justus Hofmeyr, Rachel A. Haws, Shereen Zulfiqar Bhutta, Joy E. Lawn

Department of Obstetrics & Gynaecology

Background: Our objective was to estimate the effect of various childbirth care packages on neonatal mortality due to intrapartum-related events ("birth asphyxia") in term babies for use in the Lives Saved Tool (LiST).

Methods: We conducted a systematic literature review to identify studies or reviews of childbirth care packages as defined by United Nations norms (basic and comprehensive emergency obstetric care, skilled care at birth). We also reviewed Traditional Birth Attendant (TBA) training. Data were abstracted into standard tables and quality assessed by adapted GRADE criteria. For interventions with low quality evidence, but strong GRADE recommendation for implementation, an expert …

Evaluation Of Compliance And Outcomes Of A Management Protocol For Massive Postpartum Hemorrhage At A Tertiary Care Hospital In Pakistan, Lumaan Sheikh, Nida Najmi, Umair Khalid, Taimur Saleem

Department of Obstetrics & Gynaecology

Background: Massive postpartum hemorrhage is a life threatening obstetric emergency. In order to prevent the complications associated with this condition, an organized and step-wise management protocol should be immediately initiated.

Methods: An evidence based management protocol for massive postpartum hemorrhage was implemented at Aga Khan University Hospital, Karachi, Pakistan after an audit in 2005. We sought to evaluate the compliance and outcomes associated with this management protocol 3 years after its implementation. A review of all deliveries with massive primary postpartum hemorrhage (blood loss >= 1500 ml) between January, 2008 to December, 2008 was carried out. Information regarding mortality, mode …

An Evaluation Of The Emerging Interventions Against Respiratory Syncytial Virus (Rsv)-Associated Acute Lower Respiratory Infections In Children, Harish Nair, Vasundhara R. Verma, Evropi Theodoratou, Lina Zgaga, Tanvir Huda, Eric Af Simoes, Peter F. Wright, Igor Rudan, Harry Campbell

Dartmouth Scholarship

Background: Respiratory Syncytial Virus (RSV) is the leading cause of acute lower respiratory infections (ALRI) in children. It is estimated to cause approximately 33.8 million new episodes of ALRI in children annually, 96% of these occurring in developing countries. It is also estimated to result in about 53,000 to 199,000 deaths annually in young children. Currently there are several vaccine and immunoprophylaxis candidates against RSV in the developmental phase targeting active and passive immunization.

Methods: We used a modified CHNRI methodology for setting priorities in health research investments. This was done in two stages. In Stage I, we systematically reviewed …

Effect Of Case Management On Neonatal Mortality Due To Sepsis And Pneumonia, Anita K. M. Zaidi, Hammad A. Ganatra, Sana Syed, Simon Cousens, Anne C. C. Lee, Robert Black, Zulfiqar A. Bhutta, Joy E. Lawn

Department of Paediatrics and Child Health

Background: Each year almost one million newborns die from infections, mostly in low-income countries. Timely case management would save many lives but the relative mortality effect of varying strategies is unknown. We have estimated the effect of providing oral, or injectable antibiotics at home or in first-level facilities, and of in-Patient hospital care on neonatal mortality from pneumonia and sepsis for use in the Lives Saved Tool (LiST). Methods: We conducted systematic searches of multiple databases to identify relevant studies with mortality data. Standardized abstraction tables were used and study quality assessed by adapted GRADE criteria. Meta-analyses were undertaken where …

Quantal Amplitude At The Cone Ribbon Synapse Can Be Adjusted By Changes In Cytosolic Glutamate., Theodore M. Bartoletti, Wallace B. Thoreson

Journal Articles: Ophthalmology

PURPOSE: Vision is encoded at photoreceptor synapses by the number of released vesicles and size of the post-synaptic response. We hypothesized that elevating cytosolic glutamate could enhance quantal size by increasing glutamate in vesicles.

METHODS: We introduced glutamate (10-40 mM) into cone terminals through a patch pipette and recorded excitatory post-synaptic currents (EPSCs) from horizontal or OFF bipolar cells in the Ambystoma tigrinum retinal slice preparation.

RESULTS: Elevating cytosolic glutamate in cone terminals enhanced EPSCs as well as quantal miniature EPSCs (mEPSCs). Enhancement was prevented by inhibiting vesicular glutamate transport with 1S,3R-1-aminocyclopentane-1,3-dicarboxylate in the patch pipette. A low affinity glutamate …