Medical Specialties Commons^™

Molecular Analyses Of Phenylketonuria In The Intellectually Disabled Children From Faisalabad, Punjab, Pakistan, Habiba Hussain, Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Fazli Rabbi Awan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Phenylketonuria (PKU) is a rare inherited metabolic disorder, caused by mutations in the phenylalanine hydroxylase (PAH). It is a treatable disorder if diagnosed earlier in life. The objective was to identify PKU patient(s) amongst the intellectually disabled children. Methods: Blood samples (n=100) were collected from intellectually disabled children from Faisalabad, Pakistan. Screening was performed on plasma samples through High Performance Liquid Chromatography (HPLC), and DNA samples were examined for mutation analysis of PAH through direct PCR and SSCP analyses. Results: In the current study, 85% consanguinity rate was observed, with the average BMI (16.15 kg/m2) and …

Prevalence Of Depression In Caregivers Of Stroke Patients In Karachi, Pakistan, Marium Mansoor, Shahina Pirani, Rabeeka Aftab, Tania Nadeem

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Caregivers of patients with chronic debilitating illnesses are at risk of developing mental health problems. The objective of this study is to determine the frequency of depression in caregivers of stroke patients at a tertiary care teaching hospital in Karachi, Pakistan. Methods: A cross-sectional study was conducted among caregivers of stroke, who were recruited from the Aga Khan University Hospital between January 2018 to October 2018. Data was collected through the Urdu Hamilton rating scale for depression (HAM-D-U) and it was analyzed using descriptive and inferential statistics. Results: A total of 136 caregivers participated in the …

Practical Measures For Disabled’S Empowerment-Time For Economic Growth!, Mahnoor Hafeez

Pakistan Journal of Neurological Sciences (PJNS)

The objective of this article is to advocate for persons with disabilities’ (PWD) rights, to discuss issues solutions, social awareness and to promote diversity and inclusion. The word ‘Disability’ covers a wide range of irreversible permanent impairments including physical and mobility difficulties, hearing, visual impairment, specific learning disabilities including dyslexia, medical conditions and mental health problems that may hinder their full and effective participation in society on an equal basis with others.1 Handicap is the condition of being unable to perform due to physical or mental unfitness.

Epilepsy Research In Africa: A Scoping Review By The Ilae Pediatric Commission Research Advocacy Task Force, Pauline Samia, Jane Hassell, Jessica Hudson, Azim Ahmed, Jasmit Shah, Charles Hammond, Edward Kija, Stéphane Auvin, Jo Wilmshurst

Paediatrics and Child Health, East Africa

Objective: Despite the high prevalence of epilepsy in Africa, evaluation of epi- lepsy research trends on the continent is lacking. Without establishing effective research, improvement in care for people with epilepsy cannot be effectively strategized or targeted.

Methods: A scoping review of the peer-reviewed literature on epilepsy from Africa (1989–2019) was conducted. The aim was to understand from this what areas are well researched versus underresearched based on published epilepsy topics.

Results: A total of 1227 publications were identified and assessed. A significant increase in publications occurred over the 30 years assessed. African author lead- ership was …

A Pilot Study Comparing Pre-Analytic Tissue Processes Before And After Implementation Of A Quality Improvement Program For Handling Breast Cancer Specimens, Joseph Gatheru Macharia

Master of Medicine in Anatomic Pathology

Background: Breast cancer as the most frequently occurring cancer in women is highly heterogeneous in its pathological characteristics. Assessment of tumor biologic characteristics including hormone receptor profile and growth factor receptor activity is important in characterizing the pathologic nature of such cancers. Tumor biomarker activity plays a big role in diagnosis and management of invasive breast cancer (IBC). Biological specimens are the primary sources of this molecular information. Optimal handling of the specimen through the various analytic phases assures of the validity of the final pathologic diagnosis. Objective: To assess the feasibility of implementing an intervention plan to improve specific …

Diffuse Alveolar Hemorrhage Due To Hydralazine-Induced Lupus, P Boshara, E Calvo-Ayala

Conference Presentation Abstracts

Introduction: Hydralazine is a known cause of drug-induced lupus. Rarely, it’s been reported to cause major organ-threatening complications, manifesting as kidney disease and CNS involvement. It’s also been associated with ANCA-positive vasculitis primarily involving the kidney, with uncommon pulmonary complications. We report a unique case of hydralazine-induced lupus presenting as diffuse alveolar hemorrhage (DAH) in the absence of renal disease or ANCA-positive vasculitis, which was successfully treated with systemic steroid monotherapy. Case description: The patient is an 86 year-old female with a history of chronic immune thrombocytopenia who presented to the hospital due to one week of dyspnea and hemoptysis. …

Weakly-Supervised Tumor Purity Prediction From Frozen H&E Stained Slides, Matthew Brendel, Vanesa Getseva, Majd Al Assaad, Michael Sigouros, Alexandros Sigaras, Troy Kane, Pegah Khosravi, Juan Miguel Mosquera, Olivier Elemento, Iman Hajirasouliha

Publications and Research

Background

Estimating tumor purity is especially important in the age of precision medicine. Purity estimates have been shown to be critical for correction of tumor sequencing results, and higher purity samples allow for more accurate interpretations from next-generation sequencing results. Molecular-based purity estimates using computational approaches require sequencing of tumors, which is both time-consuming and expensive.

Methods

Here we propose an approach, weakly-supervised purity (wsPurity), which can accurately quantify tumor purity within a digitally captured hematoxylin and eosin (H&E) stained histological slide, using several types of cancer from The Cancer Genome Atlas (TCGA) as a proof-of-concept.

Findings

Our model predicts …

Use Of Cgm In Monitoring Neonatal Diabetes, Emily Metzinger, Kelsee Halpin

Posters

Introduction Although continuous glucose monitoring (CGM) has increased in patients with Type 1 diabetes, its use in the neonatal population has remained limited. Neonates, particularly preterm infants, are at risk of impaired glucose control. Several studies have looked at the use of these devices in improving care for premature infants without diabetes. We describe a case of a very low birth infant with neonatal diabetes secondary to a GATA-6 mutation. Clinical Case This is a late preterm infant with IUGR, truncus arteriosus, and neonatal diabetes. Exome genetic panel showed a mutation in GATA-6. Her neonatal diabetes was challenging to control …

An Evolutionary Algorithm Of The Spot Sparsity Optimization In Proton Arc Therapy, Lewei Zhao, Gang Liu, Xiaoqiang Li, Xuanfeng Ding

Conference Presentation Abstracts

Purpose: Spot-scanning Proton Arc (SPArc) plan normally contains thousands of spot numbers in which is the delivery time is proportional to the number of spots. It is critical to find an optimal SPArc with a fast delivery speed while maintaining a good plan quality. Thus, we developed a novel evolutionary algorithm to directly search the optimal spot sparsity solution in the balance of plan quality and beam delivery time (BDT). Methods: The planning platform included a plan quality objective, a selector and a generator. A selector was designed to filter or add the spot according to the expected spot number, …

Clinical Experience Of Exactrac To Guide Six Degree Of Freedom Fiducial Marker Based Patient Positioning For Hypo-Prostate Fractionation, R Sandhu, C Knill, B Loughery, L Lin, Z Seymour

Conference Presentation Abstracts

Purpose: ExacTrac is clinically used for inter- and intra- fraction shift corrections for hypofractionated prostate patients by registering to implanted fiducial markers. ExacTrac corrections for thirty-three prostate patients were collated and analyzed. Methods: ExacTrac shifts were exported for prostate patients (140 total fractions) who were treated with two 180° partial arcs with beam-on time less than 60seconds/arc. Prior to each treatment fraction, a cone beam computed tomography (CBCT) image was acquired to verify bladder and rectal filling against simulation. Following CBCT, ExacTrac was used for initial prostate localization and shifts were applied using a 6 degree-of-freedom (6D) couch. Following initial …

Authorship Representation In Global Emergency Medicine: A Bibliometric Analysis From 2016 To 2020, Stephanie Chow Garbern, Gimbo Hyuha, Catalina González Marqués, Noor Baig, Jennifer L. Chan, Sanjukta Dutta, Masuma A. Gulamhussein, Gloria Paulina López Terán, Hussein Karim Manji, Benjamin Wachira

Emergency Medicine, East Africa

Introduction: High-income country (HIC) authors are disproportionately represented in authorship bylines compared with those affiliated with low and middle-income countries (LMICs) in global health research. An assessment of authorship representation in the global emergency medicine (GEM) literature is lacking but may inform equitable academic collaborations in this relatively new field.

Methods: We conducted a bibliometric analysis of original research articles reporting studies conducted in LMICs from the annual GEM Literature Review from 2016 to 2020. Data extracted included study topic, journal, study country(s) and region, country income classification, author order, country(s) of authors' affiliations and funding sources. We compared the …

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data, Briana Christophers, Michael A Lopez, Vandana A Gupta, Hannes Vogel, Mary Baylies

Faculty, Staff and Student Publications

Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with NM. A systematic search of MEDLINE, Embase, CINAHL, Web of Science, and Scopus was performed using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines using the keywords pediatric, child, NM, nemaline rod, and rod myopathy. Case studies focused on pediatric NM and published in English between January 1, 2010, and December 31, …

Interdisciplinary Patient-Centred Poststroke Care In Follow-Up After Stroke, Screening And Treatment (Fasst) Clinic Model: A Proof-Of-Concept Pilot Study, Min Sun Kim, Sean V Cleymaet, Seung Kim, Jennifer Andres, Charles Ruchalski, Yongwoo Kim, S Ausim Azizi, Anjail Z Sharrief, Imama A Naqvi

Faculty, Staff and Student Publications

BACKGROUND: Although secondary stroke prevention is important, the optimal outpatient model that improves risk factor control and decreases post-stroke complications effectively has not been established. We created Follow-up After Stroke, Screening and Treatment (FASST), an interdisciplinary clinic involving stroke physicians and pharmacists to address poststroke complications and secondary stroke prevention systemically. We present our approach to assess its proof-of-concept in our pilot study.

METHODS: We included the patients attending FASST clinic after their hospital discharge. We used validated survey screens to assess for complications: depression, anxiety, sleep disorders, cognitive impairment, disability, social support, quality of life and functional status. Data …

Use Of Physiologically-Based Pharmacokinetic Modeling To Inform Dosing Of The Opioid Analgesics Fentanyl And Methadone In Children With Obesity, Jacqueline G. Gerhart, Fernando O. Carreño, Jennifer L. Ford, Andrea N. Edginton, Eliana M. Perrin, Kevin M. Watt, William J. Muller, Andrew M. Atz, Amira Al-Uzri, Paula Delmore, Daniel Gonzalez, Catherine Sherwin

Pediatrics Faculty Publications

Obesity is an increasingly alarming public health threat, with nearly 20% of children classified as obese in the United States today. Children with obesity are commonly prescribed the opioids fentanyl and methadone, and accurate dosing is critical to reducing the risk of serious adverse events associated with overexposure. However, pharmacokinetic studies in children with obesity are challenging to conduct, so there is limited information to guide fentanyl and methadone dosing in these children. To address this clinical knowledge gap, physiologically-based pharmacokinetic models of fentanyl and methadone were developed in adults and scaled to children with and without obesity to explore …

Clinical Skills Of General Practitioners In Nairobi, Kenya: A Cross-Sectional Study, Gulnaz Mohamoud, Robert Mash

Family Medicine, East Africa

Background: Quality service delivery in primary care requires motivated and competent health professionals. In the Kenyan private sector, GPs with no postgraduate training in family medicine offer primary care. There is a paucity of evidence on the ability of primary care providers to deliver comprehensive care and no such evidence is available for GPs practising in the private sector in Kenya.

Aim: To evaluate GPs’ training and experience in the skills required for comprehensive primary care.

Design and setting: A cross-sectional descriptive survey in 13 primary care clinics in the private sector of Nairobi, Kenya.

Method: A questionnaire, …

Shortness Of Breath In A Young Lady, Rare Case Report Of Thoracic Endometriosis, Willbroad Kyejo, Ally Zain Ismail, Davis Rubagumya, Rahma Bakari, Munawar Kaguta, Nancy Matillya

Family Medicine, East Africa

Introduction and importance: Endometrial glandular tissue can implant in the thorax of women suffering from endometriosis. The clinical presentation is depends on site of implantation. Complications include pneumothorax, pneumohemothorax or hemothorax.

Case presentation: A 31 year old woman with history of infertility presented with shortness of breath and was found to have a significant right sided pneumohemothorax. Drainage was done followed by chemical pleurodesis using bleomycin with resolution of symptoms on her follow up.

Clinical discussion: Thoracic endometriosis tend to present with chronic or sub-acute symptoms which are nonspecific symptoms leading to late diagnosis. Video Assisted Thoracoscopic surgery offer both …

Labrad : Vol 47, Issue 1 - June 2022, Aga Khan University, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• From the Editor’s Desk
• LABRAD Star Contributors for the Year 2021
• Clinical Relevance of Measuring Thyroid Stimulating Hormone Receptor Antibodies in Pregnancy and Newborns
• Aromatic l-amino Acid Decarboxylase (AADC) Deficiency- An Ultra-rare and Underdiagnosed Neurometabolic Disorder
• Role of Flowcytometry & Kleihauer - Betke Test in Detection and Quantification of Fetomaternal Hemorrhage
• Gestational Trophoblastic Diseases: An Overview
• Acrania-Exencephaly-Anencephaly Sequence/ Spectrum: Radiological Features on Antenatal Screening
• Minimally Invasive Tissue Sampling (MITS) A New Way to Investigate Cause of Death In Resource-constrained Countries
• Laboratory Guideline for Detection, Interpretation and Reporting of Maternal Cell Contamination (MCC) in Prenatal Analysis
• Molecular Analysis of Alpha Thalassemia …

Prescriptions For Potentially Inappropriate Medications From The Beers Criteria Among Older Adults Hospitalized For Heart Failure, Diana Jaber, Fabian Vargas, Linh Nguyen, Joanna Ringel, Kate Zarzuela, Mahad Musse, Min Ji Kwak, Emily B Levitan, Mathew S Maurer, Mark S Lachs, Monika M Safford, Parag Goyal

Faculty, Staff and Student Publications

BACKGROUND: We sought to better understand patterns of potentially inappropriate medications (PIMs) from the Beers criteria among older adults hospitalized with heart failure (HF). This observational study of hospitalizations was derived from the geographically diverse REasons for Geographic and Racial Differences in Stroke cohort.

METHODS AND RESULTS: We examined participants aged 65 years and older with an expert-adjudicated hospitalization for HF. The Beers criteria medications were abstracted from medical records. The prevalence of PIMs was 61.1% at admission and 64.0% at discharge. Participants were taking a median of 1 PIM (interquartile range [IQR] 0-1 PIM) at hospital admission and a …

Identification Of Novel Somatic Fusions Of Erg-Vegfa, Tmprss2-Erg, And Vegfa-Tmprss2 In Prostate Cancer Treated With Anlotinib And Androgen Deprivation Therapy: A Case Report, Qiuli Liu, Shuo Wang, Ze Wang, Peng Tang, Dianzheng Zhang, Weihua Lan, Jun Jiang

PCOM Scholarly Works

The TMPRSS2-ERG fusion gene has frequently been found in prostate cancer and is associated with malignancy. Identifying novel fusions will help to stratify patients and establish patient-tailored therapies. A 78-year-old man presented to our hospital with severe symptoms of urinary urgency and frequency for 2 years, as well as severe bone pain for 1 year. He was diagnosed with metastatic prostate cancer with a Gleason score of 5 + 5. Three gene fusions, ERG_VEGFA, TMPRSS2_ERG, and VEGFA_TMPRSS2, were identified in the patient's prostate cancer tissue. Notably, administration of the tyrosine kinase inhibitor, anlotinib, in combination with a gonadotropin-releasing hormone agonist …

Resolution Of Deep Peroneal Nerve Palsy After Seroma Evacuation In A Primary Total Hip Arthroplasty: A Case Report., Brian W Skura, Craig Goubeaux, William C Burgette

Surgery Articles

INTRODUCTION: In this manuscript, we present a late presentation of deep peroneal nerve symptoms after total hip arthroplasty (THA) which subsequently completely resolved after seroma evacuation and sciatic nerve decompression. While hematoma formation causing deep peroneal nerve symptoms after THA has been reported in the literature, we are unaware of any reports of seroma formation causing similar symptoms.

CASE PRESENTATION: A 38-year-old female underwent an uncomplicated primary THA and developed paresthesia's over the lateral leg and foot drop on post-operative day 7. Ultrasound diagnosed a fluid collection compressing the sciatic nerve. The patient underwent seroma evacuation and sciatic nerve decompression. …

Variations In Surgeon-Applied Loads During Passive Range Of Motion Following Total Knee Replacement With Relevance To Computational Modeling, Cj Bakle Ii

All Theses

Total knee replacement (TKR) is generally considered a successful treatment for musculoskeletal disorders of the knee. However, as many as 20% of patients report some dissatisfaction in their physical function after TKR. And approximately 50% of early revisions needed to address conditions related to component alignment and soft tissue tension to stabilize the knee. During TKR, surgeons manually perform passive range of motion (ROM) assessments to gain feedback perceived as tension in ligaments and other soft tissues. Such assessments are highly subjective and rely on the surgeon's perception of soft tissue tension rather than quantitative objective means. The variability in …

The Impact Of Surgical Delay On Resectability Of Colorectal Cancer: An International Prospective Cohort Study, Covidsurg Collaborative

Department of Surgery Faculty Publications

Aim: The SARS-CoV-2 pandemic has provided a unique opportunity to explore the impact of surgical delays on cancer resectability. This study aimed to compare resectability for colorectal cancer patients undergoing delayed versus non-delayed surgery. Methods: This was an international prospective cohort study of consecutive colorectal cancer patients with a decision for curative surgery (January-April 2020). Surgical delay was defined as an operation taking place more than 4 weeks after treatment decision, in a patient who did not receive neoadjuvant therapy. A subgroup analysis explored the effects of delay in elective patients only. The impact of longer delays was explored in …

Evaluation Of Sibel’S Advanced Neonatal Epidermal (Anne) Wireless Continuous Physiological Monitor In Nairobi, Kenya, Jesse Coleman, Amy Sarah Ginsburg, William Macharia, Roseline Ochieng, Dorothy Chomba, Guohai Zhou, Dustin Dunsmuir, Shuai Xu, J. Mark Ansermino

Paediatrics and Child Health, East Africa

Background: Neonatal multiparameter continuous physiological monitoring (MCPM) technologies assist with early detection of preventable and treatable causes of neonatal mortality. Evaluating accuracy of novel MCPM technologies is critical for their appropriate use and adoption.

Methods: We prospectively compared the accuracy of Sibel’s Advanced Neonatal Epidermal (ANNE) technology with Masimo’s Rad-97 pulse CO-oximeter with capnography and Spengler’s Tempo Easy reference technologies during four evaluation rounds. We compared accuracy of heart rate (HR), respiratory rate (RR), oxygen saturation (SpO₂), and skin temperature using Bland-Altman plots and root-mean-square deviation analyses (RMSD). Sibel’s ANNE algorithms were optimized between each round. …

The Global Implementation Of Dolutegravir For Hiv Treatment, Matthew L. Romo

Dissertations and Theses

Background
Dolutegravir, an integrase strand transfer inhibitor, is now recommended by international guidelines as part of preferred antiretroviral therapy (ART) regimens for people living with HIV. In low- and middle-income countries (LMICs), HIV treatment programs are transitioning from non-nucleoside reverse transcriptase inhibitors (NNRTIs) to dolutegravir because of its superior efficacy and tolerability, and high genetic barrier to HIV drug resistance. Along with the optimism surrounding widespread dolutegravir use, key questions regarding its implementation have emerged. In this dissertation, I sought to achieve the following specific aims: Aim 1: Characterize dolutegravir uptake in LMICs and identify potential disparities related to sex …

Post Covid-19 Vaccine Guillain Barre Syndrome, Soban Khan, Maryam Khalil, Zaid Waqar, Sajid Khan, Zakir Jan

Pakistan Journal of Neurological Sciences (PJNS)

The Guillain Barre Syndrome (GBS) is an acute immune-mediated progressive polyneuropathy having an acute monophasic illness leading to paralysis. The clinical features are progressive ascending symmetrical muscle weakness that may lead to respiratory failure. Diagnosis is based upon clinical presentation and is supported by a lumbar puncture with CSF analysis demonstrating albumin-cytological dissociation, and electrophysiological studies. Our patient presented to us with progressive ascending paralysis after receiving COVID 19 vaccine.

Succinic Semialdehyde Dehydrogenase Deficiency – A Rare Cause Of Metabolic Stroke, Areeba Wasim, Javeria Raza Alvi, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder characterized by defective degradation of gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter of the brain. Children with SSADH deficiency present with motor and mental delay, intractable seizures, infantile onset hypotonia, speech disturbances, extrapyramidal symptoms and ataxia. This wide spectrum results from increased accumulation of 4hydroxy butyric acid (4HBA) leading to down regulation of GABA receptors, which likely explain epileptogenesis but the pathophysiology of stroke in SSADH deficiency is not much elucidated. Here, we report an infant aged 11 months, product of consanguineous marriage with significant family history of motor delay …

Risk Factors Of Intracerebral Hemorrhage – A Cross Sectional Study, Mir Jalal-Ud-Din, Raheel Jehangir Jadoon, Syed Affan Ali, Samia Wazir Khawaja, Zahid Gul Jadoon, Ibtisam .

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Stroke is the major cause of disability and one of the top causes of death in the globe. Though the rate is decreasing in the West, it is most likely growing in Asia. In Pakistan, the burden of stroke risk factors is substantial. Although data on the incidence and prevalence of stroke in Pakistan is limited, there are several published case studies demonstrating major disparities in stroke epidemiology, risk factors, kinds, and patterns. This study aims to identify risk factors of intracerebral hemorrhage among patients presenting to a teaching hospital. Methods: From August 2019 to February …

Iranian Stroke Model-How To Involve Health Policymakers, Mehdi Farhoudi, Ehsan Sharifipour

Pakistan Journal of Neurological Sciences (PJNS)

Stroke in Iran, with more than 83 million population, is a leading cause of disability and mortality in adults. Stroke has higher incidence in Iran comparing the global situation and unfortunately the onset age of first ever stroke is dropping about 10 years.1 Intravenous thrombolysis, as an approved treatment in ischemic stroke, has been used only in some university or private hospitals in Iran since 2008.2 The main limit for this therapy in Iran was the lack of coverage by health insurance companies for tPA. A project for situation analysis of stroke cases entering to Imam Reza Hospital, a tertiary …

Detection Of Enterotoxin Gene Cluster In Staphylococcus Epidermidis Recovered From Neonatal Liver Abscess, Bishara J. Freij, Barbara E. Robinson-Dunn, Patrick M. Schlievert

Posters

• Neonatal pyogenic liver abscesses are rare • Potential routes of hepatic infection include: portal vein, biliary ducts, hepatic artery during sepsis, or direct spread from infected contiguous structures • Risk factors may include bloodstream infection, abdominal surgery, umbilical vein catheterization, total parenteral nutrition, necrotizing enterocolitis, and/or immune deficiencies • More common in premature infants at present • Variety of etiologic agents for neonatal liver abscess: Staphylococcus aureus (methicillin-susceptible and resistant), coagulase-negative staphylococci (CONS), streptococci, Escherichia coli, Klebsiella, Pseudomonas, Enterobacter, Serratia, and Candida • Umbilical stump and catheter exit site hub often colonized with CONS • CONS colonize nearly all …

Vampirism For The Microbiologist, Joudeh B. Freij, Bishara J. Freij

Posters

Vampirism has been a means to explain the cause of communicable diseases throughout the centuries.