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Labrad : Vol 39, Issue 2 - December 2013, Aga Khan University Hospital, Karachi

LABRAD

• Diagnosis of Inborn Errors of Metabolism in Pakistan
• Inherited Metabolic Disorders-Presenting as Metabolic Emergencies
• Role of Biochemical Genetics Laboratary in Evaluation of IEM
• Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism
• Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Gene
• Diagnosis of Tyrosinemia Type I
• Congential Hypothyroidism
• Congential Adrenal Hyperplasia, An Insight of Laboratory
• Inaugration Ceremony of Section of biochemical Genetics Laboratory

Transfusion Medicine Illustrated: Transfusion Interference By Cold Agglutinins., Melissa R. George, Jay Herman

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

No abstract provided.

First Report Of Ndm-1-Producing Acinetobacter Baumannii In East Africa, Gunturu Revathi, Kristopher L. Siu, Po-Liang Lu, Li-Yueh Huang

Pathology, East Africa

Background: The emergence of carbapenem-resistant Acinetobacter baumannii (CRAB) was observed in a Kenyan hospital from 2009 to 2010. Further investigation of the dissemination of CRAB isolates and the molecular characterization of associated resistance determinants were therefore performed.

Methods: Antibiotic susceptibilities were determined by broth microdilution and Etest. Metallo-blactamases were detected by Etest method. Clonal relationships were studied by pulsed-field gel electrophoresis (PFGE) and multilocus sequence typing (MLST). b-Lactam and aminoglycoside resistance determinants and the clonal relatedness to widespread European clones were studied by PCR and sequencing.

Results: Sixteen CRAB isolates from 10 patients possessed six pulsotypes; half of the isolates …

Development Of A Conditional Mesd (Mesoderm Development) Allele For Functional Analysis Of The Low-Density Lipoprotein Receptor-Related Family In Defined Tissues, Andrew V. Taibi, Janet K. Lighthouse, Richard C. Grady, Kenneth R. Shroyer, Bernadette Holdener

Department of Biomedical Engineering Faculty Publications

The Low-density lipoprotein receptor-Related Protein (LRP) family members are essential for diverse processes ranging from the regulation of gastrulation to the modulation of lipid homeostasis. Receptors in this family bind and internalize a diverse array of ligands in the extracellular matrix (ECM). As a consequence, LRPs regulate a wide variety of cellular functions including, but not limited to lipid metabolism, membrane composition, cell motility, and cell signaling. Not surprisingly, mutations in single human LRPs are associated with defects in cholesterol metabolism and development of atherosclerosis, abnormalities in bone density, or aberrant eye vasculature, and may be a contributing factor in …

Clinical Reasoning And Dual Mental Processing In Diagnostic Competence., M. Tariq, Syed Ahsan Ali

Department of Medicine

No abstract provided.

A Study On The Geophylogeny Of Clinical And Environmental Vibrio Cholerae In Kenya, J. Kiiru, A. Mutreja, A. A. Mohamed, R. W. Kimani, J. Mwituria, R. O. Sanaya, J. Muyodi, Gunturu Revathi, J. Parkhill, N. Thomson, G. Dougan, S. Kariuki

Pathology, East Africa

Cholera remains a significant public health challenge in many sub-Saharan countries including Kenya. We have performed a combination of phylogenetic and phenotypic analysis based on whole genome DNA sequences derived from 40 environmental and 57 clinical V. cholerae from different regions of Kenya isolated between 2005 and 2010. Some environmental and all clinical isolates mapped back onto wave three of the monophyletic seventh pandemic V. cholerae El Tor phylogeny but other environmental isolates were phylogenetically very distinct. Thus, the genomes of the Kenyan V. cholerae O1 El Tor isolates are clonally related to other El Tor V. cholerae isolated elsewhere …

Comparison Of Hpv Dna Testing In Cervical Exfoliated Cells And Tissue Biopsies Among Hiv-Positive Women In Kenya, Hugo De Vuyst, Michael Chung, Lacopo Baussano, Nelly R. Mugo, Vanessa Tenet, Folkert J. Van Kemenade, Farzana S. Rana, Samah R. Sakr, Chris J.L.M. Meijer, Peter J.F. Snijders, Silvia Franceschi

Pathology, East Africa

HIV-positive women are infected with human papillomavirus (HPV) (especially with multiple types), and develop cervical intraepithelial neoplasia (CIN) and cervical cancer more frequently than HIV-negative women. We compared HPV DNA prevalence obtained using a GP5+/6+ PCR assay in cervical exfoliated cells to that in biopsies among 468 HIV-positive women from Nairobi, Kenya. HPV prevalence was higher in cells than biopsies and the difference was greatest in 94 women with a combination normal cytology/normal biopsy (prevalence ratio, PR = 3.7; 95% confidence interval, CI: 2.4-5.7). PR diminished with the increase in lesion severity (PR in 58 women with high-grade squamous intraepithelial …

Labrad : Vol 39, Issue 1 - September 2013, Aga Khan University Hospital, Karachi

LABRAD

• Immunophenotyping by Flowcytometry
• Chronic Lymphocytic Leukaemia: Diagnosis and Prognostic Factors
• Tumour Markers
• Role of Chemical Pathology in Screening and Diagnosis of Multiple Myeloma
• 1p/19q Deletion: Favourable Prognostic Marker for Oligodendroglioma
• EGFR Mutation Screening Test for Lung Cancer Patients
• Clinical Utility of BCR-ABL1 Kinase Domain Mutational Analysis
• Molecular Cytogenetic Testing for Acute Myeloid Leukaemia
• Diffuse Large B-Cell Lymphoma (DLBCL) Subgroups have Different Phenotype

Sessile Serrated Adenomas In The Proximal Colon Are Likely To Be Flat, Large And Occur In Smokers, Tarun Rustagi, Priya Rangasamy, Matthew Myers, Melinda Sanders, Haleh Vaziri, George Y. Wu, John W. Birk, Petr Protiva, Joseph C. Anderson

Dartmouth Scholarship

Aim: To examine the epidemiology and the morphology of the proximal sessile serrated adenomas (SSAs).

Methods: We conducted a retrospective study to identify patients with SSAs using a university-based hospital pathology database query from January 2007 to April 2011. Data collected included: age, gender, ethnicity, body mass index, diabetes, smoking, family history of colorectal cancer, aspirin, and statin use. We collected data on morphology of SSAs including site (proximal or distal), size, and endoscopic appearance (flat or protuberant). We also compared proximal SSAs to proximal tubular adenomas detected during same time period.

A Dysfunctional Tricarboxylic Acid Cycle Enhances Fitness Of Staphylococcus Epidermidis During Β-Lactam Stress., Vinai Chittezham Thomas, Lauren C. Kinkead, Ashley Janssen, Carolyn R. Schaeffer, Keith M. Woods, Jill K. Lindgren, Jonathan M. Peaster, Sujata S. Chaudhari, Marat Sadykov, Joselyn Jones, Sameh M. Mohamadi Abdelghani, Matthew C. Zimmerman, Kenneth W. Bayles, Greg A. Somerville, Paul D. Fey

Journal Articles: Pathology and Microbiology

A recent controversial hypothesis suggested that the bactericidal action of antibiotics is due to the generation of endogenous reactive oxygen species (ROS), a process requiring the citric acid cycle (tricarboxylic acid [TCA] cycle). To test this hypothesis, we assessed the ability of oxacillin to induce ROS production and cell death in Staphylococcus epidermidis strain 1457 and an isogenic citric acid cycle mutant. Our results confirm a contributory role for TCA-dependent ROS in enhancing susceptibility of S. epidermidis toward β-lactam antibiotics and also revealed a propensity for clinical isolates to accumulate TCA cycle dysfunctions presumably as a way to tolerate these …

Hippocampal Sclerosis Of Aging, A Prevalent And High-Morbidity Brain Disease, Peter T. Nelson, Charles D. Smith, Erin L. Abner, Bernard J. Wilfred, Wang-Xia Wang, Janna H. Neltner, Michael Baker, David W. Fardo, Richard J. Kryscio, Stephen W. Scheff, Gregory A. Jicha, Kurt A. Jellinger, Linda J. Van Eldik, Frederick A. Schmitt

Sanders-Brown Center on Aging Faculty Publications

Hippocampal sclerosis of aging (HS-Aging) is a causative factor in a large proportion of elderly dementia cases. The current definition of HS-Aging rests on pathologic criteria: neuronal loss and gliosis in the hippocampal formation that is out of proportion to AD-type pathology. HS-Aging is also strongly associated with TDP-43 pathology. HS-Aging pathology appears to be most prevalent in the oldest-old: autopsy series indicate that 5-30 % of nonagenarians have HS-Aging pathology. Among prior studies, differences in study design have contributed to the study-to-study variability in reported disease prevalence. The presence of HS-Aging pathology correlates with significant cognitive impairment which is …

Sentinel Node Localisation Using Pre-Operative Lymphoscintigraphy And Intraoperative Gamma Probe In Early Oral Cavity Cancer, Mubasher Ikram, Shabbir Akhtar, Montasir Junaid, Tariq Dhari, Maseeh-Uz Zaman, Riffat Hussain, Zubair Ahmad

Section of Otolaryngology, Head & Neck Surgery

Objectives: To assess the diagnostic value of sentinel lymph node localisation using pre-operative lymphoscintigraphy and intra-operative gamma probe radio localisation in Pakistani patients suffering from early stage squamous cell carcinoma of the oral cavity.
Methods: The prospective case series was conducted between September 2007 and April 2010 at the Aga Khan University Hospital, Karachi. It comprised patients with T1and T2 oral cavity cancer with clinically and radiologically negative neck. Pre-operative lymphoscintigraphy was performed one day before surgery and intra-operative gamma probe was used to detect sentinel node. Final histo-pathological evaluation was taken as the gold standard.
Results: The study comprised …

Illuminating The Dark Side--Vitamin D Status In Different Localities Of Karachi., Romaina Iqbal, Lena Jafri, Ali Haroon, Aysha Habib

Department of Medicine

This study was conducted to determine the association between place of residence (grouped into neighbourhoods), and 25-hydroxy D (25[OH]D) levels of individuals of Karachi. Addresses of 4788 individuals tested for 25[OH]D at the clinical laboratory of the Aga Khan University (AKU), Karachi, from January 2007 to June 2008 were reviewed. The neighbourhoods were categorized into ten, based on locality attributes. A high overall prevalence (74%) of vitamin D deficiency (VDD) was observed. There was a significant difference (p-value < 0.01) between mean log 25[OH]D levels amongst neighbourhoods grouped according to distinct housing structure attributes and localities. A high frequency of VDD in all the studied localities of an urban city warrant dietary vitamin D supplementation and food fortification.

Population Genetics And Drug Resistance Markers: An Essential For Malaria Surveillance In Pakistan, Afsheen Raza, Mohammad Asim Beg

Department of Pathology and Laboratory Medicine

Plasmodium (P.) vivax is the prevalent malarial species accounting for 70% of malaria cases in Pakistan. However, baseline epidemiological data on P. vivax population structure and drug resistance are lacking from Pakistan. For population structure studies, molecular genetic markers, circumsporozoite protein (csp) and merozoite surface protein-1 (msp-1) are considered useful as these play an important role in P. vivax survival under immune and environmental pressure. Furthermore, these genes have also been identified as suitable candidates for vaccine development. While efforts for effective vaccine are underway, anti-malarial agents remain the mainstay for control. Evidence of resistance against commonly used anti-malarial agents, …

Orrahood, Marvin David, 1923-2000 (Mss 465), Manuscripts & Folklife Archives

MSS Finding Aids

Finding aid only Manuscripts Collection 465. Correspondence, primarily professional, or Dr. Marvin David Orrahood, a pathologist practicing in Owensboro, Kentucky. Includes Parts I-IV of a family history and genealogy, "The Family of Marvin David Orrahood II and Aline Joyce Orrahood," and a list of Owensboro physicians (Click on "Additional Files" below for scans).

Comparison Of Presumptive Echocardiographic And Definitive Diagnoses Of Cardiac Tumors In Dogs (Doi: 10.1111/Jvim.12134. [Epub Ahead Of Print]), V Rajagopalan, Sophy Jesty, Linden Craig, Rebecca Gompf

Sophy Jesty

No abstract provided.

Comparison Of Presumptive Echocardiographic And Definitive Diagnoses Of Cardiac Tumors In Dogs (Doi: 10.1111/Jvim.12134, V Rajagopalan, Sophy Jesty, Linden Craig, Rebecca Gompf

Linden E. Craig DVM, Ph.D., DACVP, College of Veterinary Medicine

doi: 10.1111/jvim.12134

Comparison Of Presumptive Echocardiographic And Definitive Diagnoses Of Cardiac Tumors In Dogs (Doi: 10.1111/Jvim.12134. [Epub Ahead Of Print]), V Rajagopalan, Sophy Jesty, Linden Craig, Rebecca Gompf

Rebecca Elaine Gompf DVM

doi: 10.1111/jvim.1213

Presumed Familial Late-Onset Medullary Thyroid Cancer In A Patient With A Germline Point Mutation, C. 2304 G->T, In Ret Proto-Oncogene Codon 768: Specific Mutation May Guide Timing Of Prophylactic Total Thyroidectomy In Affected Family Members, Susan Gerber, Md, Madalina Tuluc, Md, Phd, Serge Jabbour, Md, Facp, Face

Department of Medicine Faculty Papers

Medullary thyroid carcinoma (MTC) accounts for 15% of thyroid cancers. It arises in the C-cells of the thyroid, and is often metastatic at presentation. Approximately 75% of MTC cases are sporadic. Heritable MTC is subdivided into three categories: MEN2A, familial medullary thyroid carcinoma (FMTC), and MEN2B. Determination of the particular mutation may guide the timing of prophylactic total thyroidectomy in family members who carry the mutation.

Ectopic Cushing's Syndrome From Acth-Producing Pheochromocytoma, Susan Gerber, Md, Lawrence C. Kenyon, Md, Phd, Mary Kate Mccullen, Serge Jabbour, Md, Facp, Face

Department of Medicine Faculty Papers

ACTH-dependent Cushing’s syndrome results from excessive ACTH secretion from a pituitary gland adenoma (Cushing’s disease) in 80% of cases. Much less commonly, ectopic ACTH production occurs outside the pituitary gland, with the majority of those cases caused by bronchial carcinoids. A small number are due to excessive ACTH secretion by a pheochromocytoma.