Medical Specialties Commons^™

Labrad : Vol 45, Issue 1 - February 2019, Aga Khan University Hospital, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• Cardiac Manifestation of Inherited Metabolic Disorders
• Utility of Plasma Homocysteine in Identifying Inherited Metabolic Disorders (IMDs)
• Chediak-Higashi Syndrome, an Inherited Disorder in Phagocytic Function
• Radiology-Pathology Correlation Rare Diseases of Bone
• Dried Blood Spot (DBS) Sampling: A Method for Blood Collection without Venipuncture
• Newborn Screening Program for Congenital Hypothyroidism
• Rare Disease in Dermatopathology
• Screening for Carbohydrate Metabolism Disorders by Sugar Chromatography in Urine
• Hypophosphatasia a Rare Skeletal Disorder

Regional Stroke Program Coordinator Nurses Standardize Ems Feedback Utilizing Kurt Lewin’S Change Model, Molly Archer, Megan Fuller, Kailey Cox, Natalie Swearingen

Books, Presentations, Posters, Etc.

No abstract provided.

Complications From Iv Alteplase In Mild Stroke Patients In A Multi-State Health System, Lisa R. Yanase, Lindsay Lucas, Leslie Corless, Elizabeth Baraban

Books, Presentations, Posters, Etc.

No abstract provided.

Standardized Code Stroke Inpatient Activation Process Resulted In Consistent Acute Stroke Evaluation Times Regardless Of Primary Problem Or Patient Location, Kailey Cox, Brandon Sheets, Alyx Lesko, Lindsay Lucas, Elizabeth Baraban, Ronda Chandler, Diane Clark

Books, Presentations, Posters, Etc.

Introduction: Inpatient strokes have a higher mortality risk and longer length of stay compared to community-onset strokes. The inpatient stroke population is often not included in national registries. This study examines a hospital-wide standardized process for acute triage of Code Stroke Inpatient Activations (CSIAs) at a Comprehensive Stroke Center.

Methods: CSIA data collected between September 2016-July 2018 from the Stroke and Rapid Response Team pager were used. False CSIAs were excluded. Outcomes included percentage of CSIAs by patient location (PL), primary problem (PP), and final discharge diagnosis (FDD), as well as percentage treated with IV-alteplase (tPA) and thrombectomy. Evaluation times …

Large Five State Health System Standardizes Stroke Patient Education While Significantly Improving Health Literacy, Natalie Swearingen, Leslie Corless, Jessica Swann, Kailey Cox, Diane Lada, Elizabeth Baraban

Books, Presentations, Posters, Etc.

No abstract provided.

A Nomogram To Determine Required Seed Air Kerma Strength In Planar 131 Cesium Permanent Seed Implant Brachytherapy, Emily Hubley, Michael Trager, Voichita Bar-Ad, Adam J. Luginbuhl, Laura Doyle

Department of Radiation Oncology Faculty Papers

Purpose: Intraoperatively implanted Cesium-131 ( ¹³¹ Cs) permanent seed brachytherapy is used to deliver highly localized re-irradiation in recurrent head and neck cancers. A single planar implant of uniform air kerma strength (AKS) seeds and 10 mm seed-to-seed spacing is used to deliver the prescribed dose to a point 5 mm or 10 mm perpendicular to the center of the implant plane. Nomogram tables to quickly determine the required AKS for rectangular and irregularly shaped implants were created and dosimetrically verified. By eliminating the need for a full treatment planning system plan, nomogram tables allow for fast dose calculation for …

Functional Gastrointestinal Disorders And Gut-Brain Axis: What Does The Future Hold?, Kashif Mukhtar, Hasham Nawaz, Shahab Abid

Section of Gastroenterology

Despite their high prevalence, lack of understanding of the exact pathophysiology of the functional gastrointestinal disorders has restricted us to symptomatic diagnostic tools and therapies. Complex mechanisms underlying the disturbances in the bidirectional communication between the gastrointestinal tract and the brain have a vital role in the pathogenesis and are key to our understanding of the disease phenomenon. Although we have come a long way in our understanding of these complex disorders with the help of studies on animals especially rodents, there need to be more studies in humans, especially to identify the therapeutic targets. This review study looks at …

Clinical Genome Sequencing In An Unbiased Pediatric Cohort., Isabelle Thiffault, Emily G. Farrow, Lee Zellmer, Courtney D. Berrios, Neil Miller, Margaret Gibson, Raymond Caylor, Janda L. Jenkins, Deb Faller, Sarah E. Soden, Carol J. Saunders

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: We report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases.

METHODS: Clinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the electronic medical record. Evidence of report retrieval by clinicians and whether interpretation was concordant with laboratory report was obtained through retrospective chart review.

RESULTS: Twenty definitive diagnoses were made in 19 patients (24%; n = 80). Except for two partial gene …

Radiomics - Using Artificial Intelligence In The Quest Towards Personalised Radiation Treatment, Ahmed Nadeem Abbasi, Agha Muhammad Hammad Khan, Bilal Mazhar Qureshi

Department of Radiation Oncology

No abstract provided.

Prospective Observational Study In Patients With Obstructive Lung Disease: Novelty Design, Helen K Reddel, Maria Gerhardsson De Verdier, Alvar Agustí, Gary Anderson, Richard Beasley, Elisabeth H Bel, Christer Janson, Barry Make, Richard J Martin, Ian Pavord, David Price, Christina Keen, Asparuh Gardev, Stephen Rennard, Alecka Sveréus, Aruna T Bansal, Lance Brannman, Niklas Karlsson, Javier Nuevo, Fredrik Nyberg, Simon S Young, Jørgen Vestbo

Faculty, Staff and Student Publications

Asthma and chronic obstructive pulmonary disease (COPD) have overlapping clinical features and share pathobiological mechanisms but are often considered distinct disorders. Prospective, observational studies across asthma, COPD and asthma-COPD overlap are limited. NOVELTY is a global, prospective observational 3-year study enrolling ∼12 000 patients ≥12 years of age from primary and specialist clinical practices in 19 countries (ClinicalTrials.gov identifier: NCT02760329). NOVELTY's primary objectives are to describe patient characteristics, treatment patterns and disease burden over time, and to identify phenotypes and molecular endotypes associated with differential outcomes over time in patients with a diagnosis/suspected diagnosis of asthma and/or COPD. NOVELTY aims …

Fast And Furious: Stroke Update 2019, Mary Kay Bader

Books, Presentations, Posters, Etc.

This lecture focuses on the AHA guidelines and how the Acute Stroke Team focuses the efforts in the first few hours after presentation. Audience will be made up of physicians, nurses and EMT/EMS personnel. The aims of the event include providing a couple ‘cutting edge’ key note speakers with varying expertise from different parts of the acute stroke care continuum.

Increase In Video Evaluations But Not Complications Over Time In A Large Stroke Network, Archit Bhatt, Elizabeth Baraban, Leslie Corless, Lindsay Lucas

Books, Presentations, Posters, Etc.

Introduction: Telestroke technology allows evaluation of stroke patients remotely. We sought to determine if there was any change in the standard of care and evaluation of stroke patients over time and whether there were differences in complication rates between those who were evaluated using telestroke technology and those who were not.

Methods: Data from April 2010 to May 2018 from a large stroke network were used. Acute ischemic stroke patients who presented to the emergency departments (ED) with last-known-well-to-door less than 4.5 hours and were treated with IV-alteplase were included. The number of facilities ranged from 7 in 2010 to …

Rapid 5 Lb Weight Gain Is Not Associated With Readmission In Patients With Heart Failure, Jill Howie-Esquivel, Kathleen Dracup, Mary A. Whooley, Charles Mcculloch, Chengshi Jin, Debra K. Moser, Robyn A. Clark, Michele M. Pelter, Martha J. Biddle, Linda G. Park

Nursing Faculty Publications

Aims Heart failure (HF) patients are taught to identify a rapid 5 lb body‐weight gain for early detection of cardiac decompensation. Few data support this common advice. The study aim was to determine whether a 5 lb weight gain in 1 week and signs and symptoms of HF increased risk for unplanned physician or emergency department (ED) visits or hospital admission in rural HF patients.

Methods and results This was a secondary analysis of a randomized trial. Patients tracked body weight and HF symptoms using diaries. We included patients adherent to daily diaries > 50% over 24 months (N = …

Primary Malignant Melanoma Of Brainstem Medulla Mimicking As Cavernoma, Adnan Naeem, Fatima Mubarak

Department of Radiology

Aim of this case report is to present a rare case of primary malignant melanoma of brain stem at the region of medulla oblongata mimicking as cavernoma. 40-year-old male presented with vertigo, headache, dizziness for 1 month. MRI showed pear shaped T1 hyperintense lesion at medulla oblongata and predominantly hypointense on T2 with focal area of hemorrhage. Lesion showed diffuse enhancement on postcontrast images. On plain CT lesion was Hyperdense. It was initially reported as Cavernoma. Surgical excision of lesion was done with per-op findings of solid, dark maroon colored lesion with hemorrhage. Histopathology showed neoplastic lesion with abundant melanin …

Phase 1 Dose-Escalation Study Of Momelotinib, A Janus Kinase 1/2 Inhibitor, Combined With Gemcitabine And Nab-Paclitaxel In Patients With Previously Untreated Metastatic Pancreatic Ductal Adenocarcinoma., Kimmie Ng, Andrew Hendifar, Alexander Starodub Md, Jorge Chaves, Yingsi Yang, Brian Koh, David Barbie, William C Hahn, Charles S Fuchs

PCI Publications and Projects

Purpose Preclinical evidence suggests the importance of Janus activating kinase (JAK) and TANK-binding kinase 1 (TBK1) in pancreatic ductal adenocarcinoma (PDAC). We evaluated the safety and efficacy of momelotinib (MMB), a JAK1/2 inhibitor with additional activity against TBK1, plus albumin-bound paclitaxel + gemcitabine (nab-P + G), in patients with previously untreated metastatic PDAC. Experimental Design Patients were enrolled into five cohorts of increasing doses of MMB between 100 and 200 mg administered once or twice daily in combination with nab-P + G in 28-day cycles to determine maximum tolerated dose (MTD). Safety, efficacy, pharmacokinetics, and pharmacodynamics were assessed for all …

Association Between Asthma And Dental Caries Amongst 12 - 15 Years Old Children: A School-Based Cross-Sectional Study In Karachi, Pakistan, Wajeeha Zahid, Shafquat Rozi, Farhan Raza Khan, Nida Zahid, Muhammad Masood Kadir

Community Health Sciences

Objective: The study aimed to determine an association between dental caries and asthma among 12 to 15 years old children.
Methods: This is a school-based cross-sectional study conducted from January to February 2016. A random sample of 544 children aged 12 - 15 years were enrolled from five private schools of Karachi. Dental caries was assessed using DMFT Index (Decayed, Missing, Filled teeth). The main exposure variable was asthma and information on it was collected through the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire.
Results: The data was analyzed using Cox Proportional Hazard algorithm. Crude and adjusted …

Chicken-Fried Steak Changed My Outlook On Medicine, Michael J Lehner

The Texas Heart Institute Journal

No abstract provided.

Atrial Myxoma Presenting With Palpitations: A Case Report, George Prousi Md, Joseph Moran Do, Ross Biggs Do

Department of Medicine

Abstract

Atrial myxomas are a rare phenomenon and although benign, primary neoplasms of the heart can be burdensome depending on their location. Clinical symptoms are caused through a variety of mechanisms including conduction disturbances, obstruction, and valvular interference. Size and symptom development are strongly correlated and can almost always be detected by the use of echocardiography, magnetic resonance imaging or computed tomography. This is a case of a 62-year-old female with no significant past medical history presented to our facility with complaints of palpitations and associated dizziness for three months.

Introduction

Atrial myxomas are the most common benign primary neoplasm …

Immediate Versus Delayed Exercise In Men Initiating Androgen Deprivation: Effects On Bone Density And Soft Tissue Composition, Dennis R. Taaffe, Daniel A. Galvao, Nigel Spry, David Joseph, Suzanne K. Chambers, Robert A. Gardiner, Dickon Hayne, Prue Cormie, David H.K. Shum, Robert U. Newton

Research outputs 2014 to 2021

OBJECTIVES: To examine whether it is more efficacious to commence exercise medicine in men with prostate cancer at the onset of androgen-deprivation therapy (ADT) rather than later on during treatment to preserve bone and soft-tissue composition, as ADT results in adverse effects including: reduced bone mineral density (BMD), loss of muscle mass, and increased fat mass (FM).

PATIENTS AND METHODS: In all, 104 patients with prostate cancer, aged 48-84 years initiating ADT, were randomised to immediate exercise (IMEX, n = 54) or delayed exercise (DEL, n = 50) conditions. The former consisted of 6 months of supervised resistance/aerobic/impact exercise and …

Quality Of Life And Psychological Distress In Cancer Survivors: The Role Of Psycho-Social Resources For Resilience, Craig A. Harms, Lynne Cohen, Julie Ann Pooley, Suzanne K. Chambers, Daniel A. Galvao, Robert U. Newton

Research outputs 2014 to 2021

OBJECTIVE: To examine the association between scores on the Protective Factors for Resilience Scale (PFRS) (as a measure of a person's psycho-social resources for resilience) and quality of life as well as symptoms of psychological distress for adult cancer survivors.

METHODS: In this cross-sectional study, 295 cancer survivors (59% female) provided background demographic information and completed the PFRS as well as measures of quality of life and psychological distress previously validated with cancer survivors. Most of the survivors were diagnosed with breast or prostate cancer.

RESULTS: Analysis of the data confirmed the factor structure for the PFRS …

Mitf Has A Central Role In Regulating Starvation-Induced Autophagy In Melanoma., Katrin Möller, Sara Sigurbjornsdottir, Asgeir O Arnthorsson, Vivian Pogenberg, Ramile Dilshat, Valerie Fock, Solveig H Brynjolfsdottir, Christian Bindesboll, Margret Bessadottir, Helga M Ogmundsdottir, Anne Simonsen, Lionel Larue, Matthias Wilmanns, Vesteinn Thorsson, Eirikur Steingrimsson, Margret H Ogmundsdottir

Articles, Abstracts, and Reports

The MITF transcription factor is a master regulator of melanocyte development and a critical factor in melanomagenesis. The related transcription factors TFEB and TFE3 regulate lysosomal activity and autophagy processes known to be important in melanoma. Here we show that MITF binds the CLEAR-box element in the promoters of lysosomal and autophagosomal genes in melanocytes and melanoma cells. The crystal structure of MITF bound to the CLEAR-box reveals how the palindromic nature of this motif induces symmetric MITF homodimer binding. In metastatic melanoma tumors and cell lines, MITF positively correlates with the expression of lysosomal and autophagosomal genes, which, interestingly, …

Guggulsterone Activates Adipocyte Beiging Through Direct Effects On 3t3-L1 Adipocytes And Indirect Effects Mediated Through Raw264.7 Macrophages., Colette N Miller, Janaiya S Samuels, Yusra Azhar, Ashish Parmar, Rangaiah Shashidharamurthy, Srujana Rayalam

PCOM Scholarly Works

Background: Plant-derived phytochemicals have been of emerging interest as anti-obesity compounds due to their apparent effects on promoting reduced lipid accumulation in adipocytes. Despite such promising evidence, little is known about the potential mechanisms behind their anti-obesity effects. The aim of this study is to establish potential anti-obesity effects of the phytochemical guggulsterone (GS). Methods: Mature 3T3-L1 adipocytes were treated with GS, derived from the guggul plant native in northern India, to investigate its effects on mitochondrial biogenesis and adipocyte "beiging." Further, to explore the relationship between macrophages and adipocytes, 3T3-L1s were treated with conditioned media from GS-treated RAW264.7 macrophages. …

The Influence Of Unpredictable, Fragmented Parental Signals On The Developing Brain, Laura M. Glynn, Tallie Z. Baram

Psychology Faculty Articles and Research

Mental illnesses originate early in life, governed by environmental and genetic factors. Because parents are a dominant source of signals to the developing child, parental signals - beginning with maternal signals in utero - are primary contributors to children’s mental health. Existing literature on maternal signals has focused almost exclusively on their quality and valence (e.g. maternal depression, sensitivity). Here we identify a novel dimension of maternal signals: their patterns and especially their predictability/unpredictability, as an important determinant of children’s neurodevelopment. We find that unpredictable maternal mood and behavior presage risk for child and adolescent psychopathology. In experimental models, fragmented/unpredictable …

The Insula And Its Epilepsies, Barbara C. Jobst, Jorge Gonzalez-Martinez, Jean Isnard, Philippe Kahane, Nuria Lacuey, Samden D. Lahtoo, Dang K. Nguyen, Chengyuan Wu, Fred Lado

Department of Neurosurgery Faculty Papers

Insular seizures are great mimickers of seizures originating elsewhere in the brain. The insula is a highly connected brain structure. Seizures may only become clinically evident after ictal activity propagates out of the insula with semiology that reflects the propagation pattern. Insular seizures with perisylvian spread, for example, manifest first as throat constriction, followed next by perioral and hemisensory symptoms, and then by unilateral motor symptoms. On the other hand, insular seizures may spread instead to the temporal and frontal lobes and present like seizures originating from these regions. Due to the location of the insula deep in the brain, …

Reducing Postoperative Opioids After Minimally Invasive Hysterectomy With Enhanced Recovery, Kevin D. White, Shirin Azadi, Amanda Pauley, Dr. Brenda L Mitchell,, Nadim Bou Zgheib

Marshall Journal of Medicine

I

Introduction:

We evaluated the efficacy of various strategies utilized for the control of postoperative pain after minimally invasive hysterectomy. The primary enhanced recovery after surgery (ERAS) protocol of interest utilized premedication (acetaminophen, celecoxib and pregabalin), then intraoperative subcutaneous liposomal bupivacaine followed by scheduled oral acetaminophen and ibuprofen postoperatively. Patients also had tramadol and oxycodone as needed for moderate or severe breakthrough pain, respectively.

Materials and Methods:

We conducted a retrospective cohort study that included all patients who underwent minimally invasive hysterectomy (total laparoscopic hysterectomy and laparoscopic-assisted vaginal hysterectomy) for both benign and oncologic indications over a 2-year period. We …

Failure Of Effective Contraception In Opioid Addicted Mothers: A Disparity In Planned And Actual Usage, Robert C. Bowers, Makenzie Hatfield Kresch, Amy Roy, Danielle Lancaster, Jennie L. Yoost

Marshall Journal of Medicine

The ongoing opioid epidemic in West Virginia has given rise to a unique population of opioid-addicted obstetric patients. Appropriate education, counseling, and implementation of contraception is of extreme importance among this high risk patient population. This study was a retrospective chart review aimed at evaluating contraception choice and initiation rates among patients enrolled in a maternal buprenorphine maintenance program compared to non-opioid addicted patients. Rates of planned contraception initiation were compared between the two groups. Rates of actual contraception initiation were also compared. Contraceptive choices were then placed into one of three tiers based on efficacy, and rates of initiation …

Bilateral Acute Ocular Ischemic Syndrome Following Head And Neck Radiation, Dipali Nemade, Paul Ferguson, Vikram Shivkumar, Dennis Cole

Marshall Journal of Medicine

Previous literature has established a clear correlation between radiation therapy (RT) to the head and neck leading to aggressive atherosclerosis of the carotid arteries and subsequent increased risk for ischemic stroke. Stenosis of carotid arteries can lead to Ocular Ischemic syndrome (OIS). We present a case of acute bilateral OIS following head and neck RT for left tonsillar squamous cell carcinoma (SCC) in a 64 year-old Caucasian male. Routine large vessel cerebrovascular screening following head and neck radiotherapy should be considered as a means of potentially mitigating future stroke risk through initiation of medical therapy and interventional modalities as a …

Percutaneous Transluminal Balloon Venoplasty: A Less Invasive Technique For Implantation Of Cardiac Leads In Patients With Limited Venous Access To The Heart, Waiel Abusnina, Zachary O. Curtis, Emilia C. Leigh, Eric Y. Auyoung, Dr. Mehiar El-Hamdani, Esam Baryun

Marshall Journal of Medicine

Since its inception, cardiac pacing has made a significant advancement in cardiology. As new therapies and devices emerge, the number of implantations is steadily increasing which requires up-to-date clinical guidelines for management. Although advanced, these mechanical devices often require maintenance and revisions to achieve optimal performance. One of the most common deteriorations is the lead failure.

In the case of lead failure requiring revision, new lead implant, or upgrading to a more advanced pacing system, venous stenosis resulting in partial or complete obstruction of the vessel can pose a real problem. This case series report introduces the technique of percutaneous …

Neurodevelopmental Milestones And Associated Behaviours Are Similar Among Healthy Children Across Diverse Geographical Locations, José Villar, Michelle Fernandes, Manorama Purwar, Eleonora Staines-Urias, Paola Di Nicola, Leila Cheikh Ismail, Roseline Ochieng, Fernando Barros, Maria Carvalho, Elaine Albernaz

Paediatrics and Child Health, East Africa

It is unclear whether early child development is, like skeletal growth, similar across diverse regions with adequate health and nutrition. We prospectively assessed 1307 healthy, well-nourished 2-year-old children of educated mothers, enrolled in early pregnancy from urban areas without major socioeconomic or environmental constraints, in Brazil, India, Italy, Kenya and UK. We used a specially developed psychometric tool, WHO motor milestones and visual tests. Similarities across sites were measured using variance components analysis and standardised site differences (SSD). In 14 of the 16 domains, the percentage of total variance explained by between-site differences ranged from 1.3% (cognitive score) to 9.2% …

Candidemia Following Ureteric Stent Placement In A Patient With Type 2 Diabetes Treated With Canagliflozin, Rishi Raj, Jon Hendrie, Aasems Jacob, Derick Adams

Internal Medicine Faculty Publications

A 38-year-old female patient with well-controlled type 2 diabetes mellitus treated with canagliflozin underwent ureteral stent placement for obstructive renal calculi. Ten days following ureteroscopy and ureteral stenting, she developed fevers and blood cultures grew Candida glabrata (C. glabrata). The patient was successfully treated with an extended course of broad-spectrum antibiotics and antifungal agents. The clinical presentation of candidemia is indistinguishable from bacteremia resulting in delay in diagnosis and treatment. Candiduria is commonly seen in patients with type 2 diabetes, however it rarely leads to candidemia in an otherwise healthy person following a relatively simple urologic procedure. Sodium-glucose …