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Articles 1 - 30 of 31
Full-Text Articles in Pediatrics
Metabolomics Of A Neonatal Cohort From The Alliance For Maternal And Newborn Health Improvement Biorepository: Effect Of Preanalytical Variables On Reference Intervals, Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Muhammad Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan
Metabolomics Of A Neonatal Cohort From The Alliance For Maternal And Newborn Health Improvement Biorepository: Effect Of Preanalytical Variables On Reference Intervals, Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Muhammad Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan
Department of Pathology and Laboratory Medicine
Background: The study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.
Methodology: DBS samples were collected within 48-72 hours of life. Samples were analyzed for biochemical markers on tandem mass spectrometer at the University of Iowa. Comparison of RI across various categorical variables were performed.
Results: A total of 610 reference samples were selected based on exclusion criteria; 53.2% being females. Mean gestational age (GA) of mothers at the time of delivery was 38.7±1.6 weeks; 24.5% neonates were of low birth weight and …
Amplification Of The Plag-Family Genes-Plagl1 And Plagl2-Is A Key Feature Of The Novel Tumor Type Cns Embryonal Tumor With Plagl Amplification, Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Nasir Uddin
Amplification Of The Plag-Family Genes-Plagl1 And Plagl2-Is A Key Feature Of The Novel Tumor Type Cns Embryonal Tumor With Plagl Amplification, Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Nasir Uddin
Department of Pathology and Laboratory Medicine
Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal …
Perspective On Newborn Screening (Nbs): Evidence Sharing On Conditions To Be Included In Nbs In Pakistan, Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Humayun, Salman Kirmani, Natasha Bahadur Ali, Bushra Moiz, Aysha Habib, Bushra Afroze
Perspective On Newborn Screening (Nbs): Evidence Sharing On Conditions To Be Included In Nbs In Pakistan, Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Humayun, Salman Kirmani, Natasha Bahadur Ali, Bushra Moiz, Aysha Habib, Bushra Afroze
Department of Pathology and Laboratory Medicine
Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected metabolic, endocrine and other disorders based on disease epidemiology, testing and treatment availability, efficiency and cost-effectiveness. Even in developing countries, such screening programmes are initiated using heel prick capillary blood collected on filter paper. The current narrative review was planned to provide a perspective with evidence in favour of starting newborn screening for different disorders. The programme project should be initiated nationwide, taking one …
Higher Entropy Observed In Sars-Cov-2 Genomes From The First Covid-19 Wave In Pakistan, Najia Karim Ghanchi, Asghar Nasir, Kiran I. Masood, Syed Hani Abidi, Syed Faisal Mahmood, Akber Kanji, Safina Abdul Razzak, Waqasuddin Khan, Saba Shahid, Maliha Yameen, Ali Raza, Javaria Ashraf, Zeeshan Ansar Ahmed, Mohammad Buksh Dharejo, Nazneen Islam, Zahra Hasan, Rumina Hasan
Higher Entropy Observed In Sars-Cov-2 Genomes From The First Covid-19 Wave In Pakistan, Najia Karim Ghanchi, Asghar Nasir, Kiran I. Masood, Syed Hani Abidi, Syed Faisal Mahmood, Akber Kanji, Safina Abdul Razzak, Waqasuddin Khan, Saba Shahid, Maliha Yameen, Ali Raza, Javaria Ashraf, Zeeshan Ansar Ahmed, Mohammad Buksh Dharejo, Nazneen Islam, Zahra Hasan, Rumina Hasan
Department of Pathology and Laboratory Medicine
Background: We investigated the genome diversity of SARS-CoV-2 associated with the early COVID-19 period to investigate evolution of the virus in Pakistan.
Materials and methods: We studied ninety SARS-CoV-2 strains isolated between March and October 2020. Whole genome sequences from our laboratory and available genomes were used to investigate phylogeny, genetic variantion and mutation rates of SARS-CoV-2 strains in Pakistan. Site specific entropy analysis compared mutation rates between strains isolated before and after June 2020.
Results: In March, strains belonging to L, S, V and GH clades were observed but by October, only L and GH strains were present. The …
Establishing Reference Interval For Thyroid-Stimulating Hormone In Children Below Two-Year Ages In Pakistani Population, Siraj Muneer, Imran Siddiqui, Hafsa Majid, Lena Jafri, Khadija N Humayun, Sibtain Ahmed, Aysha Habib Khan
Establishing Reference Interval For Thyroid-Stimulating Hormone In Children Below Two-Year Ages In Pakistani Population, Siraj Muneer, Imran Siddiqui, Hafsa Majid, Lena Jafri, Khadija N Humayun, Sibtain Ahmed, Aysha Habib Khan
Department of Pathology and Laboratory Medicine
Introduction: Reference intervals (RIs) of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) are age, assay and population specific. Currently, the age and assay-specific RIs for TSH are not available for children under two years of age. This study aimed to establish reference intervals for serum concentrations of TSH and FT4 in healthy children aged 1-24 months as per CLSI C28-A3 guidelines.
Methods: This prospective cross-sectional study was conducted in children from 1 to 24 months visiting the clinical laboratory for serum vitamin D testing but without any recent illness, hospitalization, medication and history of maternal thyroid diseases from August 2018 …
Indirect Determination Of Serum Creatinine Reference Intervals In A Pakistani Pediatric Population Using Big Data Analytics, Sibtain Ahmed, Jakob Zierk, Imran Siddiqui, Aysha Habib Khan
Indirect Determination Of Serum Creatinine Reference Intervals In A Pakistani Pediatric Population Using Big Data Analytics, Sibtain Ahmed, Jakob Zierk, Imran Siddiqui, Aysha Habib Khan
Department of Pathology and Laboratory Medicine
Background: The indirect methods of reference intervals (RI) establishment based on data mining are utilized to overcome the ethical, practical challenges and the cost associated with the conventional direct approach.
Aim: To generate RIs for serum creatinine in children and adolescents using an indirect statistical tool.
Methods: Data mining of the laboratory information system was performed for serum creatinine analyzed from birth to 17 years for both genders. The timeline was set at six years from January 2013 to December 2018. Microsoft Excel 2010 and an indirect algorithm developed by the German Society of Clinical Chemistry and Laboratory Medicine's Working …
Determination Of Reference Interval (Ri) Of Spot Urinary Oxalate To Creatinine Ratio In Children Of Pakistani Origin Under Six Years Of Age: A Cross-Sectional Study, Syed Bilal Hashmi, Lena Jafri, Jamsheer Jehangir Talati, Hafsa Majid, Saqib Hamid Qazi, Aysha Habib Khan
Determination Of Reference Interval (Ri) Of Spot Urinary Oxalate To Creatinine Ratio In Children Of Pakistani Origin Under Six Years Of Age: A Cross-Sectional Study, Syed Bilal Hashmi, Lena Jafri, Jamsheer Jehangir Talati, Hafsa Majid, Saqib Hamid Qazi, Aysha Habib Khan
Department of Pathology and Laboratory Medicine
Background: The gold standard screening method of hyperoxaluria in children is using 24-hour urine collection. Urine collection may be cumbersome and challenging for children. Reference intervals (RI) of oxalate for the Pakistani population are not readily available. Therefore we aimed to determine the oxalate to creatinine ratio (Ox: Cr) for Pakistani children <6 years of age.
Materials and methods: A cross-sectional study was conducted at Aga Khan University from June 2018 to October 2019. Random urine samples from apparently healthy children < 6 years were collected and stored at -30°C until analysis after adding 6M HCl. Oxalate was measured on Micro lab 300 using a kit based on oxalate oxidase principle, while creatinine was measured by kinetic Jaffe reaction. Data was analyzed by EP evaluator and SPSS 23. Ox: Cr ratio was calculated and reported with 90% confidence interval (CI) and interquartile range (IQR).
Results: The mean age of study subjects (n=120) was 29 ±22.3 months with an M: F ratio of 1:1. Children of various ethnicities …6>
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
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 …
X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan
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
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 …
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
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, …
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
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 …
Glycogen Storage Diseases-Time To Flip The Outdated Diagnostic Approach Centered On Liver Biopsy With The Molecular Testing, Sibtain Ahmed, Bushra Afroze
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
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
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 …
Factors Leading To Meconium Aspiration Syndrome In Term- And Post-Term Neonates, Saroop Chand, Aamna Salman, Razia Mustafa Abbassi, Abdul Rehman Siyal, Fayaz Ahmed Memon, Abdul Lateef Leghari, Ashmal Sami Kabani, Sajid Ali
Factors Leading To Meconium Aspiration Syndrome In Term- And Post-Term Neonates, Saroop Chand, Aamna Salman, Razia Mustafa Abbassi, Abdul Rehman Siyal, Fayaz Ahmed Memon, Abdul Lateef Leghari, Ashmal Sami Kabani, Sajid Ali
Department of Pathology and Laboratory Medicine
Background:
Meconium aspiration syndrome (MAS) is considered a major cause of respiratory morbidity. It is a common issue encountered in the delivery room and newborn nursery. There is a need to identify the factors that lead to MAS to develop strategies to screen such patients at an early stage to decrease the mortality and morbidity. The objective of this study was to determine the factors leading to MAS in neonates delivered at ≥37 weeks of gestational age.
Methods:
A cross-sectional study was conducted through non-probability consecutive sampling technique at Liaquat University Hospital, Hyderabad from August 2016 to February 2017. All …
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
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. …
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
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 …
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
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 …
Diagnostic Dilemma Of Patients With Methylmalonic Aciduria: Experience From A Tertiary Care Centre In Pakistan, Hafsa Majid, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Yousufzai, Midhat Fatima, Zeba Zulfiqar Ali, Bushra Afroze
Diagnostic Dilemma Of Patients With Methylmalonic Aciduria: Experience From A Tertiary Care Centre In Pakistan, Hafsa Majid, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Yousufzai, Midhat Fatima, Zeba Zulfiqar Ali, Bushra Afroze
Department of Pathology and Laboratory Medicine
Objective: To determine the frequency of disorders leading to methylmalonic acidurias.
Methods: This cross-sectional study was conducted from January 2013 to April 2016 at the Aga Khan University Hospital, Karachi, and comprised patients diagnosed with methylmalonic acidurias based on urine organic acid analysis. Clinical history and biochemical data was collected from the biochemical genetics laboratory requisition forms. Organic acid chromatograms of all the subjects were critically reviewed by a biochemical pathologist and a metabolic physician. For assessing the clinical outcome, medical charts of the patients were reviewed. SPSS 19 was used for data analysis.
Results: Of the 1,778 patients 50(2.81%) …
High Heterotrophic Counts In Potable Water And Antimicrobial Resistance Among Indicator Organisms In Two Peri-Urban Communities Of Karachi, Pakistan, Sadia Shakoor, Imran Ahmed, Saima Mukhtiar, Israr Ahmed, Farzeen Hirani, Shazia Sultana, Rumina Hasan
High Heterotrophic Counts In Potable Water And Antimicrobial Resistance Among Indicator Organisms In Two Peri-Urban Communities Of Karachi, Pakistan, Sadia Shakoor, Imran Ahmed, Saima Mukhtiar, Israr Ahmed, Farzeen Hirani, Shazia Sultana, Rumina Hasan
Department of Pathology and Laboratory Medicine
Objective: Fecal contamination of potable water leads to unsafe water supply. Although many urban areas of large metropolitan cities receive safe water, peri-urban areas are often not monitored by public health authorities and water supply and quality remain unknown. We assessed microbiological quality and rates of antimicrobial resistance in viable indicator bacteria in two peri-urban communities of Karachi, Pakistan. Water samples were collected over 5 months (October 2015 to February 2016) from these peri-urban communities and samples were processed for microbiological quality as per Standing Committee of Analysts, United Kingdom and World Health Organization guidelines and criteria for drinking water. …
Selective Screening For Organic Acidurias And Amino Acidopathies In Pakistani Children, Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
Selective Screening For Organic Acidurias And Amino Acidopathies In Pakistani Children, Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
Department of Pathology and Laboratory Medicine
Objective: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years.
Study Design: Retrospective Observational study.
Place and Duration of Study: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014.
Methodology: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded. Amino acids and organic acids were analyzed on high performance liquid chromatography and gas chromatography-mass spectrometry respectively. Clinical data and chromatograms of patients screened for IMDs were reviewed by chemical pathologist and metabolic physician. …
Rapid Detection Of In Vitro Antituberculous Drug Resistance Among Smear-Positive Respiratory Samples Using Microcolony Detection-Based Direct Drug Susceptibility Testing Method, Irim Iftikhar, Seema Irfan, Joveria Farooqi, Zahida Azizullah, Rumina Hasan
Rapid Detection Of In Vitro Antituberculous Drug Resistance Among Smear-Positive Respiratory Samples Using Microcolony Detection-Based Direct Drug Susceptibility Testing Method, Irim Iftikhar, Seema Irfan, Joveria Farooqi, Zahida Azizullah, Rumina Hasan
Department of Pathology and Laboratory Medicine
Background: With the rise in multidrug-resistant tuberculosis, there is a search for newer techniques that will rapidly detect drug-resistant Mycobacterium tuberculosis. Although molecular techniques can detect resistance, culture is still considered gold standard, especially in resource-limited settings where quick, cheap, and easy techniques are needed. The aim of the study was to evaluate microcolony method thin layer agar (TLA) for quick detection of resistance against the first- and second-line antituberculous drugs in clinical isolates. This was a cross-sectional study performed at Aga Khan University Hospital.
Material and Methods: A total of 87 Z-N stain smear-positive pulmonary samples were received and …
Pathogen-Specific Burdens Of Community Diarrhoea In Developing Countries: A Multisite Birth Cohort Study (Mal-Ed), Sadia Shakoor, Shahida Qureshi, Furqan Kabir, Anita K. M. Zaidi, Zulfiqar Ahmed Bhutta, Imran Ahmed, Didar Alam, Syed Asad Ali, Muneera Rasheed, Sajid Bashir Soofi, Ali Turab, Aisha Khizar Yousafzai
Pathogen-Specific Burdens Of Community Diarrhoea In Developing Countries: A Multisite Birth Cohort Study (Mal-Ed), Sadia Shakoor, Shahida Qureshi, Furqan Kabir, Anita K. M. Zaidi, Zulfiqar Ahmed Bhutta, Imran Ahmed, Didar Alam, Syed Asad Ali, Muneera Rasheed, Sajid Bashir Soofi, Ali Turab, Aisha Khizar Yousafzai
Department of Pathology and Laboratory Medicine
Background: Most studies of the causes of diarrhoea in low-income and middle-income countries have looked at severe disease in people presenting for care, and there are few estimates of pathogen-specific diarrhoea burdens in the community.
Methods: We undertook a birth cohort study with not only intensive community surveillance for diarrhoea but also routine collection of non-diarrhoeal stools from eight sites in South America, Africa, and Asia. We enrolled children within 17 days of birth, and diarrhoeal episodes (defined as maternal report of three or more loose stools in 24 h, or one loose stool with visible blood) were identified through …
Aplastic Anemia: Clinicohaematological Features, Treatment And Outcome Analysis, Rabia Wali, Zehra Fidoo, Salman Adil, Muhammad Ahmed Naqvi
Aplastic Anemia: Clinicohaematological Features, Treatment And Outcome Analysis, Rabia Wali, Zehra Fidoo, Salman Adil, Muhammad Ahmed Naqvi
Department of Pathology and Laboratory Medicine
Objective: To determine the clinicohaematological features, treatment and outcome of children diagnosed with aplastic anemia at a single institution.
Study Design: Observational study.
Place and Duration of Study: The Aga Khan University Hospital, Karachi, from January 1999 till December 2008.
Methodology: Medical records of children aged less than 15 years of age diagnosed with aplastic anemia were reviewed. Clinicohaematological features, treatment and its response to therapy and outcome were recorded. Results were described in percentages.
Results: Ninety patients were diagnosed to have aplastic anemia (AA); 65 were male during the study period. Age ranged from 1 to 15 years. Fever …
Vitamin B12 Deficiency--A Major Cause Of Megaloblastic Anaemia In Patients Attending A Tertiary Care Hospital, Saira Perwaiz Iqbal, Ghulam Nabi Kakepoto, Saleem Perwaiz Iqbal
Vitamin B12 Deficiency--A Major Cause Of Megaloblastic Anaemia In Patients Attending A Tertiary Care Hospital, Saira Perwaiz Iqbal, Ghulam Nabi Kakepoto, Saleem Perwaiz Iqbal
Department of Pathology and Laboratory Medicine
BACKGROUND: Folate and vitamin B12 deficiencies have been known to cause megaloblastic anaemia. Since the deficiencies of these two vitamins are very common in Pakistani population, it would be imperative to investigate their role in causing megaloblastic anaemia. The objective of this study was to find out the contribution of folate and vitamin B12 deficiencies in causing megaloblastic anaemia in our patient population.
METHODS: In this retrospective cohort study, clinical records of 220 patients (101 females and 119 males with an age range of 1-80 years) who presented themselves with macrocytic anaemia at the Aga Khan University Hospital were collected. …
Orbital Embryonal Rhabdomyosarcomain Karachi (1998-2002), Yasmin Bhurgri, A. Mazhar, H. Bhurgri, A. Usman, J. Malik, A. Bhurgri, R. Ahmed, S. Muzaffar, N. Kayani, Shahid Pervez, S. H. Hasan
Orbital Embryonal Rhabdomyosarcomain Karachi (1998-2002), Yasmin Bhurgri, A. Mazhar, H. Bhurgri, A. Usman, J. Malik, A. Bhurgri, R. Ahmed, S. Muzaffar, N. Kayani, Shahid Pervez, S. H. Hasan
Department of Pathology and Laboratory Medicine
Objective: To study the epidemiology of ocular Rhabdomyosarcoma (ORMS) in Karachi.
Methods: Incident ORMS cases resident of Karachi, registered at Karachi Cancer Registry (KCR) during 1st January 1998 to 31st December 2002 were included in the study. The data were classified using ICD-O2; computerized with Canreg-3, and analyzed using SPSS 10.0.
Results: Ten cases of ORMS were reported to KCR during 1998-2002. RMS originated in the orbit in eight cases, conjunctiva in one and eyelid in one. Nine cases presented with proptosis, associated with conjunctivitis in four cases. One case presented with eyelid swelling. The crude annual incidence rate was …
Flow Cytometric Analysis Of Childhood Leukemias, R. Z. Yusuf, Shahid Pervez, S. A. Aziz, Mohammad Khurshid
Flow Cytometric Analysis Of Childhood Leukemias, R. Z. Yusuf, Shahid Pervez, S. A. Aziz, Mohammad Khurshid
Department of Pathology and Laboratory Medicine
Objective: To collect demographic data for childhood (less than 15 years) leukemias in Karachi, describe the accuracy of the cell surface markers routinely used in the flow cytometric analysis of leukemic cells and arrive at an ideal panel of antibodies for analyzing leukemic samiples.
Materials and Methods: Data from 62 consecutive cases of childhood leukemias referred to the Department of Pathology, Aga Khan University Hospital. (AKUH) between January 1995 and December 1998 was analyzed using Epi Info Version 6. Flow cytometry on all samples was performed using standard protocols.
Results: The mean age of patients was 8.2 years and 49 …
Childhood Non-Hodgkin's Lymphoma: An Immunophenotypic Analysis., Sajid Hussain Shah, Suhail Muzaffar, Shahid Pervez, Sheema H. Hassan
Childhood Non-Hodgkin's Lymphoma: An Immunophenotypic Analysis., Sajid Hussain Shah, Suhail Muzaffar, Shahid Pervez, Sheema H. Hassan
Department of Pathology and Laboratory Medicine
Objective: To observe the frequency of histological subtypes of childhood non-Hodgkin`s lymphoma and its immunohistochemical profile.
Setting: All cases of non-Hodgkin’s lymphoma diagnosed in children (<15 years) in the section of histopithology at the Aga Khan University Hospital Karachi during the period of three years.
Methods: These consecutive cases were evaluated on H&E stained sections and then immunohistochemistry analysis of these tumors was performed by employing Peroxidase Anti-Peroxidase (PAP) technique.
Results: The present series included 61 cases of non-Hodgkin’s lymphoma. NHL was more common in males as compared to females with male to female ratio of 5.8:1. High grade NHL comprised 87% of childhood lymphoma. The mode of presentation in majority of NHL (57%) was extranodal. Burkitt’s lymphonia (33%) …
Frequency Of Malignant Solid Tumors In Children, Sajid Hussain Shah, Shahid Pervez, Sheema H. Hassan
Frequency Of Malignant Solid Tumors In Children, Sajid Hussain Shah, Shahid Pervez, Sheema H. Hassan
Department of Pathology and Laboratory Medicine
Objective: To find out the frequency of malignant solid tumors in children (cTl5 years).
Setting: All cases of pediatric malignant solid tumors which were diagnosed in the section of histopathology at the Aga Khan University Hospital, Karachi during the period of two years.
Methods: These tumors were initially evaluated on H&E stained sections and special stains were also performed whenever indicated. The undifferentiated tumors were evaluated immunohistochemically by using a panel of antibodies on sections from routinely processed, fornialin fixed, paraffin embedded tissu.e blocks.
Results: Of two hundred and fifty three (253) consecutive cases of paediatric malignant solid tumors, lyinphorna …