Medical Specialties Commons^™

Integrating Standardized Whole Genome Sequence Analysis With A Global Mycobacterium Tuberculosis Antibiotic Resistance Knowledgebase, Rumina Hasan, Matthew Ezewudo, Amanda Borens, Álvaro Chiner-Oms, Paolo Miotto, Leonid Chindelevitch, Angela M. Starks, Debra Hanna, Richard Liwsk, Matteo Zignol

Department of Pathology and Laboratory Medicine

Drug-resistant tuberculosis poses a persistent public health threat. The ReSeqTB platform is a collaborative, curated knowledgebase, designed to standardize and aggregate global Mycobacterium tuberculosis complex (MTBC) variant data from whole genome sequencing (WGS) with phenotypic drug susceptibility testing (DST) and clinical data. We developed a unified analysis variant pipeline (UVP) ( https://github.com/CPTR-ReSeqTB/UVP ) to identify variants and assign lineage from MTBC sequence data. Stringent thresholds and quality control measures were incorporated in this open source tool. The pipeline was validated using a well-characterized dataset of 90 diverse MTBC isolates with conventional DST and DNA Sanger sequencing data. The UVP exhibited …

Role Of Palliative Csf Diversion In Patients With Intracranial Metastatic Disease And Symptomatic Hydrocephalus, Farhan A. Mirza, Muhammad Shahzad Shamim

Section of Neurosurgery

Hydrocephalus, unless treated, is one of the terminal manifestations of intracranial metastatic disease. Single lesions causing obstructive hydrocephalus are amenable to surgical resection, but in the setting of multiple lesions and communicating hydrocephalus from leptomeningeal disease, the approach to treatment is much less defined. The use of endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunting (VPS) has been described, but data is limited. In this review, we summarize the sparse data available in literature describing the use of CSF diversion for patients with metastatic disease presenting with hydrocephalus and neurological decline.

Compound Heterozygosity For A Whole Gene Deletion And P.R124c Mutation In Cyp21a2 Causing Nonclassic Congenital Adrenal Hyperplasia, Hamza Nasir, Syed Ibaad Ali, N Haque, Stefan K. Grebe, Salman Kirmani

Section of Diabetes, Endocrinology and Metabolism

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on glucocorticoid and mineralocorticoid treatment for classic CAH. He was diagnosed at 4 years of age based on mild-moderate elevations of 17-hydroxyprogesterone (17-OHP) and adrenocorticotropic hormone (ACTH), but without evidence of precocious adrenarche/puberty. Due to his diagnosis, his clinically asymptomatic 3-year-old sister was tested and also found to have elevated ACTH and 17-OHP levels and was started on glucocorticoids for …

Neurology Advocacy In Pakistan, Abdul Malik

Pakistan Journal of Neurological Sciences (PJNS)

Advocacy is an activity by an individual or group which aims to influence decisions within political, economic, and social systems and institutions. Advocacy can include many activities that a person or organization undertakes including media campaigns, public speaking, commissioning and publishing research or conducting exit poll or the filing of an amicus brief. Lobbying (often by lobby groups) is a form of advocacy where a direct approach is made to legislators on an issue which plays a significant role in modern politics

Bilateral Psoas Abscess After Extracorporeal Shock Wave Lithotripsy: Reminder Of A Rare Complication, Sidra Zafar, Syed Usman Bin Mahmood, Arsal Tharwani, Noreen Nasir

Section of Nephrology

Extracorporeal shock wave lithotripsy (ESWL) is among the most widely used modalities for treatment of urolithiasis since its introduction in the 1980s. The non-invasive technique reduces the risk of post-procedure complications and produces excellent stone free rates. However, complications may still follow and albeit rare, there are reports in literature of abscess formation post ESWL. Herein, we report the case of a young, immunocompetent gentleman who developed bilateral psoas abscess after undergoing this procedure. He was successfully managed at our institute with intravenous antibiotics, percutaneous abscess drainage and was discharged on day 5 post-intervention in a stable condition. There have …

Behavioral Challenges In Childhood Epilepsy, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Behavioral problems among children with epilepsy is one of the most common problem. Severity of the problem ranges from 16% to 77% as compared to 9% in the general pediatric population. Such a huge variation in the results reflects probable difference in the methodology. Structured interviews that include parents, children and clinician’s reports have identified a higher rate of behavioral problems when compared to self-report instruments. Higher rates are reported in clinical samples recruited from tertiary care medical centers, where they have a lot of referrals from the peripheral small units. Most researchers agree that children with epilepsy have three …

Role Of Adc Values And Ratios Of Mri Scan In Differentiating Typical From Atypical/Anaplastic Meningiomas, Muhammad Azeemuddin, Waseem Mehmood Nizamani, Muhammad Usman Tariq, Mohammad Wasay

Department of Radiology

Atypical/anaplastic meningiomas are prone to aggressive behaviour which affects treatment planning and prognostication. Our aim was to assess the role of Apparent Diffusion Coefficient (ADC) values of MRI brain in differentiating typical from atypical/anaplastic meningioma. We reviewed 84 typical and 37 atypical/anaplastic meningiomas and compared mean ADC values and ADC ratios of their preoperative MRI brain. At 3 Tesla, mean ADC value for typical meningioma was1.03±0.10x10-3 and 0.63±0.05x10-3 for atypical/anaplastic meningioma. At 1.5 Tesla, mean ADC value for typical meningioma was 1.05±0.11x10-3 and atypical/ anaplastic meningioma was 0.70 ± 0.04x10-3. The mean ADC ratios were 1.08 ± 0.17 and 0.85 …

Labrad : Vol 44, Issue 2 - September 2018, Aga Khan University Hospital, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• Inappropriate Requesting Of Glycated Haemoglobin (HBA1c) By Clinicians
• Fecal Calprotectin (S100a8/S100a9)
• Fecal Pancreatic Elastase: A Test for Pancreatic Insufficiency
• Radiology Pathology Correlation
• Myelodysplastic Syndromes (MDS)
• WHO Classification of Head and Neck Tumours: An Update
• Plasma Metanephrines in Diagnosis of Pheochromocytoma
• Megaloblastic Anemia
• Aplastic AnemiaTransfusion Associated Circulatory Overload (Taco): A Severe But Preventable Transfusion Reaction

Reducing Typhoid Burden Within A Generation, Zulfiqar Ahmed Bhutta, Anita K. M. Zaidi, Tikki Pangestu

Department of Paediatrics and Child Health

No abstract provided.

Fungal Osteomyelitis In A Patient With Chronic Granulomatous Disease: Case Report And Review Of The Literature, Muhammad Khalid, Syed Asad Ali

Department of Paediatrics and Child Health

Chronic granulomatous disease (CGD) is the most common of the primary immunodeficiency in children. It is caused by single gene defect resulting in dysfunctional nicotinamide adenine dineucleotide phosphate (NADPH) oxidase complex causing recurrent bacterial and fungal infections. Here we present the case of a 9 year old boy who was a known case of CGD since three years of age. He presented with recent history of fever, left sided pain in the scapular region and difficulty in breathing. Chest imaging revealed developing left upper lobe consolidation and erosion of the 3rd posterior rib. The child underwent video assisted thoracoscopic surgery …

Microbiological And Clinical Profile Of Infective Endocarditis Patients: An Observational Study Experience From Tertiary Care Center Karachi Pakistan, Uzma Shahid, Hasanat Sharif, Joveria Farooqi, Bushra Jamil, E. Khan

Department of Pathology and Laboratory Medicine

Background:
The study analyzed microbiological and antimicrobial susceptibility profile of organisms isolated from patients with infective endocarditis (2015–17) and compared disease outcomes in cohorts of endocarditis patient with history of prior invasive vascular intervention (high risk group) vs those without (native valve group). We hypothesized that high risk group would be more likely to have severe disease outcomes.
Methods:
This was a prospective cohort study (2015–17). All blood and cardiac tissue samples of enrolled patients suspected of endocarditis according to modified Duke’s criteria were followed for microbiological and antimicrobial susceptibility profile. The high risk group was compared with the native …

Neurological Complications In Patients With Plasmodium Vivax Malaria From Karachi, Pakistan, Mohammad Asim Beg, A Akhlaq, Najia Karim Ghanchi, B Usmani, R Shahzad, A Rahim, Mohammad Wasay

Department of Pathology and Laboratory Medicine

Background: Malaria remains an endemic disease in Pakistan with an estimated healthcare burden of 1.6 million cases annually, with Plasmodium vivax accounting for 67% of reported cases. P. vivax is the most common species causing malaria outside of Africa, with approximately 13.8 million reported cases worldwide.
Method: We report a series of P. vivax cases with cerebral involvement that presented at Aga Khan University Hospital, Karachi, Pakistan.
Results: The majority of the patients presented with high-grade fever accompanied by projectile vomiting and abnormal behaviour, seizures, shock and unconsciousness. Seven of 801 patients with P. vivax monoinfection presented or developed cerebral …

Invasive Community Acquired Methicillin-Resistant Staphylococcal Aureus (Ca-Mrsa) Infections In Children, Muhammad Khalid, Samina Junejo, Fatima Mir

Department of Paediatrics and Child Health

Staphylococci are gram-positive bacteria divided into coagulase positive and coagulase negative classes, Staphylococcus aureus is the most important bacterium of this class. Epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) has changed a lot. It is no more the problem of only hospitalised patients. Children coming from community has also been increasingly affected by MRSA-called community acquired methicillin-resistant (CA-MRSA) infection. The higher severity of CA-MRSA is due to its ability to produce the toxin Panton-Valentine Leukocidin (PVL) associated with staphylococcal cassette chromosome mec (SCCmec) type IV gene. Here, we are presenting five cases of CA-MRSA infection in children having age range 0.5 …

Rapid Development Of Hepatocellular Carcinoma After Eradication Of Hepatitis C Virus With Directly Acting Antiviral Treatment, Fakhar Ali Qazi Arisar, Saeed Hamid

Section of Gastroenterology

Hepatitis C is a major risk factor for the development of hepatocellular carcinoma (HCC), arising typically on a background of liver cirrhosis. Treatment of hepatitis C has been revolutionized by the addition of oral direct-acting antivirals (DAAs) with sustained virological response (SVR) rates above 90%. There is a recent concern under debate about the increased risk of early HCC recurrence in patients with chronic hepatitis C who were treated with direct-acting antivirals. Nonetheless, these reports mostly focused on patients who were cirrhotic and were already treated for HCC. We report 4 cases of treatment naive, chronic hepatitis C patients who …

Prevention Of Neural Tube Defects By Folic Acid In Pregnancy., Atiq Ahmed Khan, Ruth K.M.

Pakistan Journal of Neurological Sciences (PJNS)

Pakistan is a developing country facing variety of challenges including maternal malnutrition and neonatal mortality. Globally Pakistan has the third highest neonatal mortality rate(1). Maternal malnutrition contributes to low birth weight neonates and birth anomalies. A study conducted in tertiary care hospital of Karachi catering to lower socioeconomic background showed 10.9% of birth defects to be of central nervous system. Maternal factor related to neural tube defects in same study showed 81.3 % mothers had not taken folic acid during pregnancy(

Hyperglycemia In Acute Subarachnoid Hemorrhage, Maher Bano Malik, Jehangeer Shoro, Haris Majid Rajput

Pakistan Journal of Neurological Sciences (PJNS)

Subarachnoid hemorrhage (SAH) is associated with high inhospital mortality and morbidity. Hyperglycemia occurs frequently in acute medical conditions including SAH and is associated with poor outcome. The aim of the study was to determine the frequency of Hyperglycemia in patients of subarachnoid hemorrhage.

Chikungunya Virus Associated Guillain-Barre Syndrome With Variable Presentation: A Case Series., Salman Farooq, Muhammad Imran, Ejaz Karim, Dureshahwar Kanwar, Muhammad Bilal Tariq

Pakistan Journal of Neurological Sciences (PJNS)

Chikungunya Virus Is A Mosquito-borne Alpha Virus Which Occasionally Causes Neurologic Complications Including Guillain-barre Syndrome, Myelitis, Myopathies And Encephalitis. Pakistan Experienced Its First Chikungunya Outbreak In The Metropolis Of Karachi Officially Confirmed By World Health Organization In December 2016. During This Outbreak, Over 30,000 People Have Been Reported To Be Infected In Different Parts Of Karachi. We Report Four Cases Of Chikungunya Virus Infection Associated Guillain-barre Syndrome Having An Atypical Clinical Presentation And Variable Outcome. Each Case Presented As A Different Variant Of Gbs Including Acute Inflammatory Demyelinating Polyneuropathy, Acute Motor And Sensory Axonal Neuropathy And Pharyngeal-cervical-brachial.

Personality Traits And Mental Health Of University Male Students Viewing Internet Pornography, Komal Razzaq, Muhammad Rafiq, Fatima Sana, Zahid Mahmood

Pakistan Journal of Neurological Sciences (PJNS)

Studies have indicated that viewing internet pornography is like addiction and has been implicated in the development of psychosocial issues leading to mental health. However, in view of Pakistani culture, psychosocial issues and mental health problems associated with viewing internet pornography especially in perspective to personality traits are not studied yet. Objective: Objective of the current study was to investigate any effect of personality traits on mental health of university male students viewing internet pornography.

Stroke Like Migraine Attacks After Radiation Therapy (Smart) Vs Radiation Vasculopathy, Farheen Niazi

Pakistan Journal of Neurological Sciences (PJNS)

Stroke like migraine attacks after radiotherapy (SMART) syndrome is a phenomenon of reversible neurologic dysfunction which occurs rarely years after radiotherapy for brain tumors. We present a 35years old patient who had new onset neurological dysfunction with fits twice in between a symptom free interval of one year. He had radiotherapy for grade 1 astrocytoma about 27 years ago. Tumor recurrence or growth was ruled out both times by neuroimaging. Alternate diagnosis like meningoencephalitis were also ruled out by appropriate workup. Patient was managed on antiepileptics and antiplatelets. Radiation induced vasculopathy was an important differential. The mechanism of both SMART …

Three Siblings With Charcot-Marie-Tooth Disease With No Other Family History, Prem Chand, Pooja Manglani, Faiq Amin, Fazal Manzoor Arain

Pakistan Journal of Neurological Sciences (PJNS)

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited disorders of the peripheral nervous system. Patients diagnosed with CMT disease have axonal degeneration which results in muscle wasting, sensory loss and weakness. These patients have a very characteristic walking gait and shape of hands, along with other changes. Despite many common visible changes, no singular common genetic mutation for this disease or its cure has been identified. Therefore more case series for this disease needs to be identified so that future studies increase our knowledge about this disease. Here, we present a case series of 3 out of 4 …

Neuromyelitis Optica (Nmo); A Case Report, Saad Waheed, Jawad Hussian, Yasir Saood, Aqsa Shehzadi

Pakistan Journal of Neurological Sciences (PJNS)

Devic’s disease or syndrome also known as Neuromyelitis optica (NMO) which is a demyelinating central nervous system (immune-mediated) ailment that predominantly targets the optic nerves and spinal cord. NMO-IgG seropositivity & longitudinally extensive spinal-cord lesions typically represents the Devic’s disease & differentiates it from Multiple Sclerosis (MS).Treatment for NMO is based upon its presentation such as for acute phase(steroids, IVIG etc), prevention of relapse (steroid sparing immunosuppression etc) and symptom based therapy (e.g spasticity etc). Here, we present a case of NMO in a young female (26 years old), married patient who presented to us with total vision loss, urinary …

Cerebral Venous Thrombosis At High Altitude, Maryam J Syed, Wasim Alamgir, Mohammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

Cerebral Venous Thrombosis (CVT) is one of the rarest causes of stroke. It is described as complete or partial occlusion of the sinuses or cortical veins of the brain. A relationship between high altitude (HA) and cerebral venous thrombosis has been long suspected due to various case reports and studies, however, the exact underlying mechanisms and etiologies are highly complex and debatable. In this article review we discuss the incidence etiologies, risk factors, clinical presentations and management of CVT at high altitude. CVT majorly affects young people [2]. It presents with a wide variety of clinical presentations due to the …

Use Of Guedel Airway As A Guide To Insert Nasogastric Tube Under General Anaesthesia: A Simple And Logical Way, Faraz Shafiq, Faruq Hameed, Khalid M Siddiqui

Department of Anaesthesia

No abstract provided.

Chemoradiation And The Role Of Adjuvant Chemotherapy In Lymph Nodal-Metastatic Cervical Cancer, Nasir Ali, Azmina Tajdin Valimohammad, Ahmed Nadeem Abbasi, Muhammad Atif Mansha, Asim Hafiz, Bilal Mazhar Qureshi

Department of Radiation Oncology

Purpose: To report the long-term outcome in lymph nodal-metastatic cervical squamous cell cancer after chemoradiation followed by adjuvant chemotherapy.
Patients and Methods: Between 2010 and 2013, five patients were diagnosed with advanced cervical cancer with clinically involved para-aortic lymph nodes (ie, International Federation of Gynecology and Obstetrics stage IVB). These patients were treated with concurrent chemoradiation therapy followed by adjuvant chemotherapy. Concurrent chemoradiation consisted of cisplatin given once per week concomitantly with extended-field radiation therapy followed by high-dose-rate brachytherapy. Adjuvant chemotherapy comprised four courses of carboplatin and paclitaxel given every three weeks. The primary outcomes were local and distant failures. …

Evaluation Of Quality Of Warfarin Therapy By Assessing Patient's Time In Therapeutic Range At A Tertiary Care Hospital In Pakistan, Haris Hakeem, Ammar Zaman Khan, Kashif Aziz, Ayesha Abbasi, Anam Haider, Bushra Moiz, Mohammad Wasay

Section of Neurology

Objective: To assess the time in therapeutic range in patients on warfarin anti-coagulation therapy.

Methods: The retrospective chart review was conducted at Aga Khan University Hospital, Karachi, and comprised data of patients having undergone anti-coagulation with warfarin from January 2013 to April 2015. To determine the mean time in therapeutic range, Rosendaal method was used. Association of time in therapeutic range with the composite outcome, bleeding and thromboembolic events was also assessed. Percentage of patients with time in therapeutic range <60% was calculated.

Results: There were 92 patients whose median time in therapeutic range was 34.9% (interquartile range: 20.0- 55.7). Overall, 71(77.2%) …

Impact Of Airborne Pollutants On Stroke, Adeel Khoja, Fizzah Kazim

Section of Neurology

No abstract provided.

Maternal Predictors Of Intrauterine Growth Retardation, Nadia Mohammad, Arjumand Sohaila, Unaib Rabbani, Sufian Ahmed, Shakeel Ahmed, Syed Rehan Ali

Department of Paediatrics and Child Health

Objective: To identify maternal factors associated with intrauterine growth restriction (IUGR).
Study Design: A case-control study.
Place and Duration of Study: Neonatal Unit of The Aga Khan Hospital for Women (AKHW), Karimabad, from January 2014 to December 2015.
Methodology: Cases were IUGR live born babies (n=90), while control were appropriate-for-gestational age (AGA) babies (n=180). Information recorded in pre-designed proforma included gestational age and birth weight of baby, demographics of mothers, pregnancy related medical and obstetric complications. Data were analysed through SPSS-19. Multivariable logistic regression was used to determine the maternal factors associated with the intrauterine growth restriction.
Results: Maternal factors …

Needs Assessment For Curricular Reform Of A Post Graduate Paediatric Training Programme At A Private University Hospital In Karachi, Pakistan, Sana Saeed, Khadija N. Humayun, Farah Qamar, Arshalooz Rahman, Kashif Karim

Department of Paediatrics and Child Health

In order to make and sustain changes in the curriculum, needs assessment is the key. We conducted a need assessment survey using a questionnaire based on a 7 point Likert Scale by residents and alumni. Over all response rate in the study was 77.5%. Fifty eight percent participants were females. Highest level of agreement (mean score 5.7) was found between the alumni and residents regarding the need to revise the content, teaching and assessment strategies in the programme. Twenty seven alumni (n= 38, 71%) had cleared their FCPS exams. The alumni thought that the existing teaching and assessment strategies do …

Pathophysiology Of Environmental Enteric Dysfunction And Its Impact On Oral Vaccine Efficacy, Chelsea Marie, Syed Asad Ali, Kanta Chandwe, William Petri Jr A, Paul Kelly

Department of Paediatrics and Child Health

Environmental enteric dysfunction (EED) refers to a subclinical disorder of intestinal function common in tropical countries and in settings of poverty and economic disadvantage. The enteropathy that underlies this syndrome is characterized by mucosal inflammation and villus blunting mediated by T cell activation. Epithelial cell disruption and microbial translocation drive systemic inflammation. EED in young children is associated geographically with growth failure, malnutrition, and greatly impaired responses to oral vaccines, notably rotavirus and poliovirus vaccines. In this review, we describe the pathophysiology of EED and examine the evidence linking EED and oral vaccine failure. This evidence is far from conclusive. …

A Six-Month Retrospective Study Of Resources Burden By Trauma Victims In The Surgical Intensive Care Unit Of A University Hospital In Pakistan, Muhammad Rizwan, Madiha Hashmi, Hasnain Zafar

Department of Anaesthesia

Introduction: Trauma is the fourth leading cause of death globally and constitutes a huge burden on limited critical care resources. Aim This study aimed to identify the trauma patient burden in terms of resources used in the surgical intensive care unit (SICU) of Aga Khan University Hospital in Pakistan which also included characteristics and outcomes of trauma and non-trauma patients.
Methods: We retrospectively reviewed all patient data for adult patients (>16 years old) admitted to the SICU from July through December 2014.
Results: Of 141 SICU cases included in our study period, 32 (22.7%) trauma patients were identified. On …