Pathology Commons^™

Gliosarcoma In Patients Under 20 Years Of Age. A Clinicopathologic Study Of 11 Cases And Detailed Review Of The Literature, Nasir Ud Din, Hira Ishtiaq, Shabina Rahim, Jamshid Abdul Ghafar, Zubair Ahmad

Department of Pathology and Laboratory Medicine

Background: Gliosarcoma is a rare variant of IDH- wild type glioblastoma with both glial and mesenchymal differentiation. It accounts for approximately 2% of glioblastomas and has a poor prognosis similar to that of classic glioblastoma. It is seen mostly between 40 and 60 years of age with a mean age over 50 years. Pediatric gliosarcoma is even rarer than gliosarcoma in adults. We describe the clinicopathological features of gliosarcoma in patients under 20 years of age and determine whether there are significant differences from gliosarcoma in adults. We also present detailed review of published literature on pediatric gliosarcoma.
Methods: Slides …

Impact Of 10-Valent Pneumococcal Conjugate Vaccine (Pcv10) On Nasopharyngeal Carriage In Children 2 Years Of Age: Data From A Four-Year Time Series Cross-Sectional Study From Pakistan, Muhammad Imran Nisar, Shahira Shahid, Sajid Muhammad, Farah Khalid, Amjad Hussain, Sheraz Ahmed, Sadia Shakoor, Furqan Kabir, Aneeta Hotwani, Syed Asad Ali, Anita K. M. Zaidi, Fyezah Jehan, Najeeha Talat Iqbal

Department of Paediatrics and Child Health

The dataset described in this paper was collected for a time-series cross-sectional study exploring the impact of 10-valent Pneumococcal Conjugate Vaccine (PCV10) on nasopharyngeal (NP) carriage in children under 2 years of age from a rural population in Sindh, Pakistan. The study was carried out in two union councils of Matiari - Khyber and Shah Alam Shah Jee Wasi (Latitude 25.680298 / Longitude 68.502711). Data was collected on socio-demographics, clinical characteristics and vaccination status using android phone-based application. NP samples were collected using standard World Health Organisation (WHO) techniques, culture and serotyping was done using sequential Multiplex PCR described by …

Characteristics Of Salmonella Recovered From Stools Of Children Enrolled In The Global Enteric Multicenter Study, Irene N. Kasumba, Caisey V. Pulford, Blanca M. Perez-Sepulveda, Sunil Sen, Nurulla Sayed, Jasnehta Permala-Booth, Sofie Livio Sofie Livio, Darren Heavens Darren Heavens, Ross Low Ross Low, Shahida Qureshi, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Background: The Global Enteric Multicenter Study (GEMS) determined the etiologic agents of moderate-to-severe diarrhea (MSD) in children under 5 years old in Africa and Asia. Here, we describe the prevalence and antimicrobial susceptibility of non-typhoidal Salmonella (NTS) serovars in GEMS and examine the phylogenetics of Salmonella Typhimurium ST313 isolates.
Methods: Salmonella isolated from children with MSD or diarrhea-free controls were identified by classical clinical microbiology and serotyped using antisera and/or whole genome sequence data. We evaluated antimicrobial susceptibility using the Kirby-Bauer disk diffusion method. Salmonella Typhimurium sequence types were determined using multi-locus sequence typing and whole genome sequencing was performed …

X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Abstract.introduction.and.importance: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.
Case presentation: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.
Clinical discussion: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the …

Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Introduction and importance: Hajdu Cheney Syndrome (HCS) is a rare skeletal disease characterized by severe, progressive focal bone loss with osteoporosis, variable craniofacial, vertebral anomalies and distinctive facial features. It is inherited as an autosomal dominant disease although sporadic cases have been described in literature. Identifying these cases in clinical practice is important for proper diagnosis and management.
Case presentation: We report a case of a 36-year-old male patient presented at metabolic bone disease clinic at the Aga Khan University Hospital with history of multiple fragility fractures and juvenile osteoporosis since childhood. DNA sequence analysis of the NOTCH2 coding sequence …

A Multidisciplinary Approach To Triage Patients With Breast Disease During The Covid-19 Pandemic: Experience From A Tertiary Care Center In The Developing World, Abida K. Sattar, Hania Shahzad, Adnan Abdul Jabbar, Azmina Tajdin Valimohammad, Sadaf Khan, Yasmin Vellani, Romana Idrees, Nasir Ali, Imrana Masroor, Humera Saeed, Gulzar S. Lakhani, Nadia Ayoub, Atif Waqar, Muhammad Zia-Ul Islam, Salman Kirmani, Asad Latif, Ather Enam

Section of General Surgery

Background: The COVID-19 pandemic has created a need to prioritize care because of limitation of resources. Owing to the heterogeneity and high prevalence of breast cancers, the need to prioritize care in this vulnerable population is essential. While various medical societies have published recommendations to manage breast disease during the COVID-19 pandemic, most are focused on the Western world and do not necessarily address the challenges of a resource-limited setting.
Aim: In this article, we describe our institutional approach for prioritizing care for patients presenting with breast disease.
Methods and results: The breast disease management guidelines were developed and approved …

Direct And Indirect Effect Of 10 Valent Pneumococcal Vaccine On Nasopharyngeal Carriage In Children Under 2 Years Of Age In Matiari, Pakistan, Muhammad Imran Nisar, Sheraz Ahmed, Fyezah Jehan, Shahira Shahid, Sadia Shakoor, Furqan Kabir, Aneeta Hotwani, Sahrish Munir, Sajid Muhammad, Farah Khalid, Syed Asad Ali, Anita K. M. Zaidi, Najeeha Talat Iqbal

Department of Paediatrics and Child Health

Background: Pakistan introduced Ten-valent pneumococcal-conjugate-vaccine PCV10 in 2012 as a 3 + 0 schedule without catch-up.
Methods: Children <2 years old in Matiari, Sindh provided nasopharyngeal swabs between 2014 and 2018, which were cultured for pneumococcus and serotyped through multiplex PCR at the Aga Khan University Hospital. Carriage rates over time for Vaccine-Type (VT) and Non-VT (NVT) serotypes were used to estimate direct, indirect, total and overall effects of vaccination. Regression analysis was used to determine factors associated with VT carriage.
Results: Pneumococcus was detected in 2370/3140 (75%). VT carriage decreased overall, 16.1-9.6% (p-trend <0.001); vaccinated (all 3 doses of PCV10 received) 11.3-8.1% (p-trend 0.031) and unvaccinated (no PCV10 dose received) 17.4-10.3% (p-trend 0.003) with a decline in serotypes 6B, 9V/9A and 19F. Immunization increased from 41.0% to 68.4% (p-trend 0.001). Direct effect of vaccine was 32.8% (95% CI 14.7-47.0%) and indirect effect 44.6%(95% CI 40.6-48.6%). Factors associated with decreased VT colonization were education 1-5 years (aOR 0.7, 95%CI 0.6-1.0), history of difficulty breathing (aOR 0.7, 95%CI 0.5-1.0), exposure to smoke (aOR 0.8, 95% CI 0.6-1.0), child fully immunized (aOR 0.7, 95%CI 0.5-1.0) and enrolled in 3rd (aOR 0.6, 95%CI 0.4-0.8) and 4th (aOR 0.6, 95%CI 0.5-0.9) year of the study whereas history of runny nose (aOR 1.5, 95% CI 1.2-1.9) was positively associated.
Conclusions: Decrease in VT pneumococcal carriage in vaccinated and unvaccinated children indicates herd immunity. Sustained increase in vaccine coverage and close long-term surveillance is warranted.

Tisagenlecleucel Infusion In Patients With Relapsed/Refractory All And Concurrent Serious Infection., Erin Hall, Dwight E. Yin, Rakesh K. Goyal, Atif Ahmed, Grace S. Mitchell, Shawn D. St Peter, Terrie Flatt, Ibrahim A. Ahmed, Weijie Li, Richard J. Hendrickson, Keith August, Douglas Myers

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Tisagenlecleucel, an anti-CD19 chimeric antigen receptor T (CAR-T) cell therapy, has demonstrated durable efficacy and a manageable safety profile in pediatric and young adult patients with relapsed/refractory B-cell acute lymphoblastic leukemia (B-ALL) in the ELIANA pivotal trial and real-world experience. Experience from investigator-led studies prior to ELIANA suggests that infections and inflammatory conditions may exacerbate the severity of cytokine release syndrome (CRS) associated with CAR-T cell therapy, leading to extreme caution and strong restrictions for on-study and commercial infusion of tisagenlecleucel in patients with active infection. CRS intervention with interleukin (IL)-6 blockade and/or steroid therapy was introduced late in …

Newborn Screening For Congenital Hypothyroidism: Improvement In Short-Term Follow-Up By Audit And Monitoring, Hafsa Majid, Sibtain Ahmed, Imran Siddiqui, Khadija N Humayun, Hussain Karimi, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Objective: Newborn screening for congenital hypothyroidism (CH) at our hospital during this study was by measurement of thyroid stimulating hormone (TSH) in serum samples. This audit was conducted over a 2 year period, to determine the compliance of reporting of results greater than the screening cutoffs for serum TSH. Gaps of non-compliance were identified, and re-audit was undertaken after the corrective actions were taken.
Results: The critical limit was defined as serum TSH (≥ 20 µIU/ml) following consultation with a pediatric endocrinologist. All results above this limit were reported urgently to physicians. During the audit period, 27,407 tests were performed, …

Burden Of Culture Confirmed Enteric Fever Cases In Karachi, Pakistan: Surveillance For Enteric Fever In Asia Project (Seap), 2016-2019, Mohammad Tahir Yousafzai, Seema Irfan, Rozina Thobani, Abdul Momin Kazi, Aneeta Hotwani, Ashraf M. Memon, Khalid Iqbal, Saqib Hamid Qazi, Nasir S. Saddal, Najeeb Rehman, Irum Fatima Dehraj, Mohammed J. Hunzai, Junaid Mehmood, Farah Naz Qamar

Department of Paediatrics and Child Health

Background: The Surveillance for Enteric Fever in Asia Project (SEAP) is a multicenter, multicountry study conducted in Pakistan, Nepal, and Bangladesh. The objectives of the study were to characterize disease incidence among patients with enteric fever. We report the burden of enteric fever at selected sites of Karachi, Pakistan.
Methods: During September 2016 to September 2019, prospective surveillance was conducted at inpatient, outpatient, surgical departments, and laboratory networks of Aga Khan University Hospital, Kharadar General Hospital, and surgery units of National Institute of Child Health and Jinnah Postgraduate Medical Centre. Socio-demographic, clinical, and laboratory data were obtained from all suspected …

Antimicrobial Resistance In Typhoidal Salmonella: Surveillance For Enteric Fever In Asia Project, 2016-2019, Farah Naz Qamar, Mohammad Tahir Yousafzai, Irum Fatima Dehraj, Sadia Shakoor, Seema Irfan, Aneeta Hotwani, Muhammad J. Hunzai, Rozina Thobani, Najeeb Rahman, Junaid Mehmood, Ashraf M. Memon

Department of Paediatrics and Child Health

Background: Clinicians have limited therapeutic options for enteric as a result of increasing antimicrobial resistance, and therefore typhoid vaccination is recommended as a preventive measure. As a part of the Surveillance for Enteric Fever in Asia Project (SEAP), we investigated the extent measured the burden of antimicrobial resistance (AMR) among confirmed enteric fever cases in Bangladesh, Nepal, and Pakistan.
Methods: From September 2016-September 2019, SEAP recruited study participants of all age groups from its outpatient, inpatient, hospital laboratory, laboratory network, and surgical sites who had a diagnosis of febrile illness that was either suspected or blood culture confirmed for enteric …

Pharmacological Intervention In Children With Autism Spectrum Disorder With Standard Supportive Therapies Significantly Improves Core Signs And Symptoms: A Single-Center, Retrospective Case Series, Hamza A. Alsayouf, Haitham Talo, Marisa L. Biddappa, Mohammad Qasaymeh, Shadi Qasem, Emily De Los Reyes

Pathology and Laboratory Medicine Faculty Publications

Purpose: Autism spectrum disorder (ASD) is a debilitating neurodevelopmental disorder with high heterogeneity and no clear common cause. Several drugs, in particular risperidone and aripiprazole, are used to treat comorbid challenging behaviors in children with ASD. Treatment with risperidone and aripiprazole is currently recommended by the Food and Drug Administration (FDA) in the USA for children aged 5 and 6 years and older, respectively. Here, we investigated the use of these medications in younger patients aged 4 years and older.

Patients and Methods: This retrospective case series included 18 children (mean age, 5.7 years) with ASD treated at the Kids …

Igf1r Immunohistochemistry In Ewing's Sarcoma As Predictor Of Response To Targeted Therapy., Elizabeth Gonzalez, Marilyn Bui, Atif Ahmed

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Ewing's sarcoma is an aggressive malignancy of bone and soft tissue in children and young adults. Despite advances in modern therapy, metastasis can occur and results in high mortality. The objective of this study was to identify whether the signaling transduction proteins, insulin growth factor receptor (IGF1R) and S6 kinase (S6K), can predict poor prognosis in Ewing's sarcoma.

Methods: After the Institutional Research Board approval, immunohistochemical experiments on tissue microarray slides containing 32 archived Ewing's sarcoma tumor samples were performed with antibodies against IGF1Rb and p-S6K. Immunohistochemical staining results were correlated with patients' clinical data including clinical stage and …

Igf1r Immunohistochemistry In Ewing's Sarcoma As Predictor Of Response To Targeted Therapy., Elizabeth Gonzalez, Marilyn Bui, Atif Ahmed

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Ewing's sarcoma is an aggressive malignancy of bone and soft tissue in children and young adults. Despite advances in modern therapy, metastasis can occur and results in high mortality. The objective of this study was to identify whether the signaling transduction proteins, insulin growth factor receptor (IGF1R) and S6 kinase (S6K), can predict poor prognosis in Ewing's sarcoma.

Methods: After the Institutional Research Board approval, immunohistochemical experiments on tissue microarray slides containing 32 archived Ewing's sarcoma tumor samples were performed with antibodies against IGF1Rb and p-S6K. Immunohistochemical staining results were correlated with patients' clinical data including clinical stage and …

Host Immune Response To Enterovirus And Parechovirus Systemic Infections In Children., Anjana Sasidharan, Wail M. Hassan, Christopher J. Harrison, Ferdaus Hassan, Rangaraj Selvarangan

Manuscripts, Articles, Book Chapters and Other Papers

Background: Enterovirus (EV) and parechovirus type A3 (PeV-A3) cause infections ranging from asymptomatic to life-threatening. Host immune responses in children, particularly innate responses to PeV-A3, remain largely unknown. The aim of this study was to determine aspects of the cytokine/chemokine responses to EV and PeV-A3 in cerebrospinal fluid (CSF) and plasma obtained from children with systemic/central nervous system infection.

Methods: A total of 74 salvaged CSF samples (27 with EV, 23 with PeV-A3, and 24 with neither EV nor PeV-A3) and 35 paired blood samples (10 with EV, 14 with PeV-A3, and 11 with neither) were studied. Concentrations of cytokines …

Investigation Of Japanese Encephalitis Virus As A Cause Of Acute Encephalitis In Southern Pakistan, April 2015-January 2018, Tazeen Fatima, Abida Rais, Erum Khan, Susan L. Hills, Trudy V. Chambers, Aneeta Hotwani, Shahida Qureshi, Saad Shafqat, Saima Malik, Farah Qamar, Fatima Mir, Anthony A. Marfin, Anita K. M. Zaidi, Asif Raza Khowaja, Sadia Shakoor

Department of Pathology and Laboratory Medicine

Background: Japanese encephalitis (JE) occurs in fewer than 1% of JE virus (JEV) infections, often with catastrophic sequelae including death and neuropsychiatric disability. JEV transmission in Pakistan was documented in 1980s and 1990s, but recent evidence is lacking. Our objective was to investigate JEV as a cause of acute encephalitis in Pakistan.
Methods: Persons aged ≥1 month with possible JE admitted to two acute care hospitals in Karachi, Pakistan from April 2015 to January 2018 were enrolled. Cerebrospinal fluid (CSF) or serum samples were tested for JEV immunoglobulin M (IgM) using the InBios JE DetectTM assay. Positive or equivocal samples …

Idiopathic Pulmonary Hemosiderosis - A Rare Cause Of Chronic Anemia, Ayesha Butt, Rashida Ahmed, Muhammad Dawood Amir Sheikh, Omar Khan, Nousheen Iqbal, Arshalooz Rahman, Javaid Khan

Medical College Documents

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease marked by alveolar bleeding and accumulation of hemosiderin in the lungs. Here we present three cases of IPH. The first case is of a 26-year-old male with anemia, hemoptysis and dyspnea. Bronchoscopy confirmed diffuse alveolar hemorrhage (DAH). A diagnosis of IPH was made after ruling out other causes of DAH and observing good response to steroids. The patient's condition improved with prednisolone and azathioprine. The second case is of 26-year-old female with severe anemia. Imaging suggested IPH and lung biopsy confirmed it. She died shortly afterwards. The third case is of a …

Glycogen Storage Diseases-Time To Flip The Outdated Diagnostic Approach Centered On Liver Biopsy With The Molecular Testing, Sibtain Ahmed, Bushra Afroze

Department of Pathology and Laboratory Medicine

The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The traditional diagnostic approach is based on the invasive hepatic or muscle biopsies, which are neither cost effective nor convenient. Molecular (gene testing) has emerged over the course of past few years as a robust alternative diagnostic tool, which not only confirms the diagnosis of GSDs but also clearly differentiates the types of GSDs allowing the initiation of the type-specific appropriate treatment for the particular type of GSDs. The …

Determinants Of Campylobacter Infection And Association With Growth And Enteric Inflammation In Children Under 2 Years Of Age In Low-Resource Settings, Md Ahshanul Haque, James A. Platts-Mills, Estomih Mduma, Ladaporn Bodhidatta, Pascal Bessong, Sadia Shakoor, Gagandeep Kang, Margaret N. Kosek, Aldo A M Lima, Zulfiqar Ahmed Bhutta

Department of Pathology and Laboratory Medicine

Campylobacter species infections have been associated with malnutrition and intestinal inflammation among children in low-resource settings. However, it remains unclear whether that association is specific to Campylobacter jejuni/coli. The aim of this study was to assess the association between both all Campylobacter species infections and Campylobacter jejuni/coli infections on growth and enteric inflammation in children aged 1-24 months. We analyzed data from 1715 children followed from birth until 24 months of age in the MAL-ED birth cohort study, including detection of Campylobacter species by enzyme immunoassay and Campylobacter jejuni/coli by quantitative PCR in stool samples. Myeloperoxidase (MPO) concentration in stool, …

Methicillin Resistant Staphylococcus Aureus Outbreak In A Neonatal Intensive Care Unit, Seema Irfan, Imran Ahmed, Farida Lalani, Naureen Anjum, Nadia Mohammad, Maria Owais, Afia Zafar

Department of Pathology and Laboratory Medicine

The global and national burden of communicable and noncommunicable diseases continues to rise, thus making access to Healthcare workers (HCWs) colonized with methicillin-resistant Staphylococcus aureus (MRSA) may pose transmission risk to vulnerable patients including neonates. This study reports an MRSA outbreak in a level-II neonatal intensive care unit (NICU) of a secondary care hospital in Pakistan. Once identified, an infection control team from the parent hospital visited the facility, risk factors were listed and infection control measures taken to control the outbreak. Screening cultures of NICU staff and environmental cultures from NICU were obtained for the presence of MRSA. Five …

Assessment And Improvement Of Data Collection Errors Through Inter-Departmental Collaboration, Charlott Williams, Kelli L. Behr, Mary Moffatt, Rangaraj Selvarangan

Posters

Specific Aims:

1. To maintain the ED team's high rate of accuracy in data collection
2. To begin team participation in corrective action planning
3. To improve interdepartmental problem solving

Conclusion

Open communication about errors among all collaborating departments, combing with a shared approach to solving them:

• improved morale and perception of error tracking by the team
• led to a decrease in errors overall, and
• increased interdepartmental collaboration

When all members of the interdepartmental team work together with a positive approach to corrective action, improvement in error rates is a natural outcome of the solutions derived.

Vitamin D Status And Risk Of Incident Tuberculosis Disease: A Nested Case-Control Study, Systematic Review, And Individual-Participant Data Meta-Analysis, Omowunmi Aibana, Chuan-Chin Huang, Said Aboud, Alberto Arnedo-Pena, Mercedes C. Becerra, Juan Bautista Bellido-Blasco, Ramesh Bhosale, Roger Calderon, Rabia Hussain, Najeeha Talat Iqbal

Department of Pathology and Laboratory Medicine

Background: Few studies have evaluated the association between preexisting vitamin D deficiency and incident tuberculosis (TB). We assessed the impact of baseline vitamins D levels on TB disease risk.
Methods and Findings: We assessed the association between baseline vitamin D and incident TB in a prospective cohort of 6,751 HIV-negative household contacts of TB patients enrolled between September 1, 2009, and August 29, 2012, in Lima, Peru. We screened for TB disease at 2, 6, and 12 months after enrollment. We defined cases as household contacts who developed TB disease at least 15 days after enrollment of the index patient. …

Beyond Sequencing: Re-Visiting Annotations For Pjl As A Test Case, Waqasuddin Khan, Aisha Ghani, Muhammad Bilal Azmi, Safina Abdul Razzak

Department of Paediatrics and Child Health

Objectives: Current developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data. however, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological information. variant annotation is a crucial step in the analysis of genome sequencing data. incorrect or incomplete annotations can cause researchers to dilute interesting variants in a pool of false positives. we require consistent, accurate and reliable annotation of variants for making diagnostic and treatment decisions. current annotation depends on the set of transcripts, and software used can be managed, with sufficient care, in the research …

Antibiotic Resistance And Molecular Characterization Of Bacteremia Escherichia Coli Isolates From Newborns In The United States., Bryan K. Cole, Marko Ilikj, Cindy B. Mccloskey, Susana Chavez-Bueno

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Escherichia coli is a major cause of neonatal sepsis. Contemporary antibiotic resistance data and molecular characterization of neonatal E. coli bacteremia isolates in the US are limited.

METHODS: E. coli blood isolates, antibiotic susceptibility data, and clinical characteristics were obtained from prospectively identified newborns from 2006 to 2016. The E. coli isolates were classified using an updated phylogrouping method and multi-locus sequence typing. The presence of several virulence traits was also determined.

RESULTS: Forty-three newborns with E. coli bacteremia were identified. Mean gestational age was 32.3 (SD±5.4) weeks. Median age was 7 days (interquartile range 0-10). Mortality (28%) occurred …

Lymphocytic Lobulitis Presenting In An Adolescent Female: A Case Report, Kevin Meilak Md

Research Days

No abstract provided.

Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura Mccarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed

Posters

This poster describes four cases of neuroblastoma diagnosed since 2008 in children greater than 10 years and presents their clinical, histologic and biologic features, emphasizing unusual clinicopathologic characteristics and the role of DNA microarray analysis and Next Generation Sequencing in their management.

Retrospective Study Of Patients With Hyperphenylalaninemia: Experience From A Tertiary Care Center In Pakistan, Sibtain Ahmed, Hafsa Majid, Lena Jafri, Aysha Habib Khan, Zeba Zulfiqar Ali, Bushra Afroze

Department of Pathology and Laboratory Medicine

Objective: To assess the clinical and biochemical features as well as outcome of perphenylalaninemia patients.
Methods: The descriptive retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from January 2013 to February 2017 of plasma amino acid analysed at the Biochemical Genetic Laboratory of patients with phenylalanine levels >120 umol/L. Medical charts of patients registered with the Metabolic Clinics were reviewed, while outside referrals were contacted by telephone to collect data on a pre-structured questionnaire. Data was analysed using SPSS 21.
Results: Of the 18 patients, 13(72%) were males. Overall median age was 606 days …

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 …

Common Alternative Diagnoses Among A Pediatric Hospital-Based Cohort Evaluated For Tuberculosis In Karachi, Pakistan: The Need For Facilitated Referral In Tuberculosis Clinics, Sadia Shakoor, Fatima Mir, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background: Children evaluated for tuberculosis (TB) are often diagnosed with miscellaneous conditions that mimic TB. Knowledge of differentials informs policy on service provision through liaison with referral centers offering definitive diagnosis and treatment for common alternative disorders.
Methods: We reviewed medical records of children who were offered diagnostic testing for TB (culture or Xpert MTB/RIF) at a tertiary care hospital in Karachi, Pakistan to identify common alternative diagnoses among children who are evaluated for TB.
Results: From January 2014 to December 2015, of 126 culture or Xpert MTB/RIF negative children presenting with chronic symptoms, 31 were diagnosed and treated for …

A Retrospective Study Of Laboratory-Based Enteric Fever Surveillance, Pakistan, 2012-2014, Farah Naz Qamar, Mohammad Tahir Yousafzai, Shazia Sultana, Attaullah Baig, Sadia Shakoor, Farzeen Hirani, Abdul Wassay, Sehrish Khushboo, Junaid Mehmood, Alexander Freeman

Department of Paediatrics and Child Health

Introduction: The Surveillance for Enteric Fever in Asia Project (SEAP) is a multisite surveillance study designed to capture morbidity and mortality burden of enteric fever (typhoid and paratyphoid) in Bangladesh, Nepal, and Pakistan. We aim to describe enteric fever disease burden, severity of illness, and antimicrobial resistance trends in Pakistan.
Methods: In this retrospective, cross-sectional study, laboratory records of hospitalized patients who received a blood culture in any of 3 Aga Khan University hospitals in Karachi and Hyderabad, Pakistan, from 2012 to 2014 were reviewed. A case was defined as having a positive blood culture for Salmonella Typhi (S. Typhi) …