Medical Specialties Commons^™

Utility Of Immunohistochemical Markers In Differentiating Benign From Malignant Follicular-Derived Thyroid Nodules, Husain A. Saleh, Bo Jin, John Barnwell, Opada Alzohaili

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Thyroid nodules are common among adults though only a small percentage is malignant, which can histologically mimic benign nodules. Accurate diagnosis of these thyroid nodules is critical for the proper clinical management.

Methods

We investigated immunoexpression in 98 surgically removed benign thyroid nodules including 52 hyperplastic nodules (HN) and 46 follicular/Hurthle cell adenomas (FA), and 54 malignant tumors including 22 follicular carcinoma (FC), 20 classic papillary carcinoma (PTC), and 12 follicular variant papillary carcinoma (FVPC).

Results

The staining results showed that malignant tumors express galectin-3, HBME-1, CK19 and Ret oncoprotein significantly more than benign nodules. The sensitivity of …

Successful Use Of Rituximab In Evans Syndrome And Refractory Immune Thrombocytopenic Purpura, Muhammad Kashif, Adnan Qureshi, Salman Naseem Adil, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

Immune cytopenias are mediated by auto-antibodies produced by B-lymphocytes. Conventional treatment of immune-mediated haematological disorders includes immunosuppression with steroids and other immune modulating therapies and in some refractory cases, splenectomy. Response rates to conventional and second-line agents are variable and a proportion of patients require lifelong immunosuppression to maintain the disease in remission. Rituximab, an anti- CD 20 monoclonal antibody has gained widespread acceptance in the management of B-cell malignancies. Additionally, it has been used to treat the disorders associated with autoantibody production. We report herein the successful use of Rituximab in the treatment of two patients with autoimmune cytopenias …

Genetic Diversity Among Plasmodium Falciparum Field Isolates In Pakistan Measured With Pcr Genotyping Of The Merozoite Surface Protein 1 And 2, Najia Ghanchi, Andreas Martensson, Johan Ursing, Sana Jafri, Sandor Bereczky, Rabia Hussain, Mohammad Asim Beg

Department of Pathology and Laboratory Medicine

Background:The genetic diversity of Plasmodium falciparum has been extensively studied in various parts of the world. However, limited data are available from Pakistan. This study aimed to establish molecular characterization of P. falciparum field isolates in Pakistan measured with two highly polymorphic genetic markers, i.e. the merozoite surface protein 1 (msp-1) and 2 (msp-2).
Methods:Between October 2005 and October 2007, 244 blood samples from Patients with symptomatic blood-slide confirmed P. falciparum mono-infections attending the Aga Khan University Hospital, Karachi, or its collection units located in Sindh and Baluchistan provinces, Pakistan were collected. The genetic diversity of P. falciparum …

Knowledge, Attitudes And Practices Of Medical Students Regarding Needle Stick Injuries, Taimur Saleem, Umair Khalid, Sidra Ishaque, Afia Zafar

Department of Pathology and Laboratory Medicine

Objective: To ascertain knowledge, attitude and practices of medical students regarding needle stick injuries.
Methods: A cross sectional survey was conducted among the consenting medical students of 3rd, 4th and 5th years at a teaching hospital of Karachi, Pakistan. Convenience sampling was used. Pre-tested questionnaires were administered to approximately 70% of each class. Data was analyzed using SPSS version 16.0. Associations were assessed using chi-square test and Fisher's exact test. A p-value of <0.05 was considered as significant.
Results: The response rate of the survey was 85.7%. Sixty one students (33.9%) were from 3rd and 4th year each while 58 students (32.2%) were …

Doxazosin Induces Apoptosis In Pten–Positive Androgen-Independent Pc Cells Via Inhibition Of Akt Activation, Hanna M Romanska, Maciej Salagierski, Rachel Bruton, P D Abel, Marek Sosnowski, El Nasir Lalani

Department of Pathology and Laboratory Medicine

Doxazosin, a selective α1-adrenoreceptor antagonist widely used in the management of benign prostatic hyperplasia (BPH), has been shown to induce apoptosis in androgen-independent (AI) and PTEN (phosphatases and tensin homolog)-negative prostate cancer (PC) cells. The objective of this study was to assess the effects of doxazosin on the growth of PC cells with a functional PTEN/PI3K/Akt pathway in relation to cell androgen sensitivity and Bcl-2 expression. Material and methods. The DU145 cell line and two derivatives: 1) DKC9 [DU145 (Bcl2 +/+)] and 2) DAR19 [DU145 (AR+/+)] were used. The effect of doxazosin on i) cell proliferation and ii) Akt phosphorylation …

Bone Marrow Examination Findings At Aga Khan University Hospital, Nairobi, Nancy Okinda, Riyat Malkit

Pathology, East Africa

Objective: To establish the bone marrow examination findings and determine the indication for bone marrow examination.

Design: A retrospective audit.

Setting: Aga Khan University Hospital, Nairobi.

Subjects: All bone marrow aspirates done at Aga Khan University for the period comprising February 2003 to February 2006 were retrieved and analysed.

Results: A total of 356 patient’s case histories including bone marrow examination results were analysed. Ages of the patients ranged from 18 months to 91 years. Males were 180 (50.6%) and females were 176 (49.4%). Nutritional anaemia as a group was the most common haematological disorder found on bone marrow …

Who Gets Prompt Access To Artemisinin-Based Combination Therapy? A Prospective Community-Based Study In Children From Rural Kilosa, Tanzania, D.O. Simba, M. Warsame, D. Kakoko, Z. Mrango, G. Tomson, Zul Premji, M. Petzold

Pathology, East Africa

Background: Effective and timely case management remains one of the fundamental pillars for control of malaria. Tanzania introduced artemisinin-combination therapy [ACT] for uncomplicated malaria; however, the policy change is challenged by limited availability of ACTs due to high cost. This study aimed to determine factors influencing prompt access to ACTs among febrile children in rural Kilosa, Tanzania.

Methods and Findings: In a community-based study, 1,235 randomly selected children under five were followed up weekly for six months, in 2008. Using a structured questionnaire, children's caretakers were asked about the child's febrile history in the last seven days, and treatment …

Understanding Caretakers' Dilemma In Deciding Whether Or Not To Adhere With Referral Advice After Pre-Referral Treatment With Rectal Artesunate, D.O. Simba, D.C. Kakoko, M. Warsame, Zul Premji, M.F. Gomes, G. Tomson, E. Johansson

Pathology, East Africa

Background: Malaria kills. A single rectal dose of artesunate before referral can reduce mortality and prevent permanent disability. However, the success of this intervention depends on caretakers' adherence to referral advice for follow-up care. This paper explores the dilemma facing caretakers when they are in the process of deciding whether or not to transit their child to a health facility after pre-referral treatment with rectal artesunate.

Methods: Four focus group discussions were held in each of three purposively selected villages in Mtwara rural district of Tanzania. Data were analysed manually using latent qualitative content analysis.

Results: The theme «Caretakers dilemma …

Population Genetic Analysis Of Large Sequence Polymorphisms In Plasmodium Falciparum Blood-Stage Antigens, A.D. Ahouidi, A.K. Bei, D.E. Neafsey, O. Sarr, S. Volkman, D. Milner, J. Cox-Singh, M.U. Ferreira, O. Ndir, Zul Premji, S. Mboup, M.T. Duraisingh

Pathology, East Africa

Plasmodium falciparum, the causative agent of human malaria, invades host erythrocytes using several proteins on the surface of the invasive merozoite, which have been proposed as potential vaccine candidates. Members of the multi-gene PfRh family are surface antigens that have been shown to play a central role in directing merozoites to alternative erythrocyte receptors for invasion. Recently, we identified a large structural polymorphism, a 0.58 Kb deletion, in the C-terminal region of the PfRh2b gene, present at a high frequency in parasite populations from Senegal. We hypothesize that this region is a target of humoral immunity. Here, by analyzing 371 …

Carcinosarcoma Of The Esophagus, Ziaur Rehman, Inam Pal, Zubair Ahmad, Asim Qureshi

Section of General Surgery

Carcinosarcoma of the esophagus is a rare neoplasm characterized histologically by presence of carcinomatous and sarcomatous elements. Case report of carcinosarcoma of the esophagogastric junction whose morphological and immunohistochemical features makes it quite distinctive from other tumours is presented. It was an ulcerated lesion diagnosed in an elderly Afghan lady located 34 cms from the incisor teeth. The patient was a smoker.

Treatment Of Asymptomatic Carriers With Artemether-Lumefantrine: An Opportunity To Reduce The Burden Of Malaria?, B. Ogutu, A.B. Tiono, M. Makanga, Zul Premji, A.D. Gbadoe, D. Ubben, A.C. Marrast, O. Gaye

Pathology, East Africa

Background: Increased investment and commitment to malaria prevention and treatment strategies across Africa has produced impressive reductions in the incidence of this disease. Nevertheless, it is clear that further interventions will be necessary to meet the international target of a reversal in the incidence of malaria by 2015. This article discusses the prospective role of an innovative malaria control strategy - the community-based treatment of asymptomatic carriers of Plasmodium falciparum, with artemisinin-based combination therapy (ACT). The potential of this intervention was considered by key scientists in the field at an Advisory Board meeting held in Basel, in April 2009. …

Autoimmunity In Transfusion Babesiosis: A Spectrum Of Clinical Presentations., Jay H Herman, Saleh Ayache, Danuta Olkowska

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Transfusion-acquired babesiosis can be an asymptomatic or self-limited febrile hemolytic illness in a healthy host. A persistent, relapsing, and/or fulminant course with the development of life-threatening complications may be seen in immunocompromised or splenectomized patients. As in malaria, erythrocyte parasitemia is often associated with nonimmune hemolysis, and can be treated with erythrocytapheresis. Just as warm autoantibodies have been reported in malaria infection, the development of autoantibody-mediated immune hemolysis has been reported in babesiosis. We treated a previously healthy male with multiple injuries from a motor vehicle accident necessitating massive transfusion. Late in the hospitalization, his blood smear revealed Babesia microti, …

Helicobacter Pylori: Prevalence And Antibiotic Susceptibility Among Kenyans, Andrew Nyerere Kimang’A, Gunturu Revathi, Samuel Kariuki, Shahin Sayed, Smita Devani

Pathology, East Africa

Background. Helicobacter pylori infection in Kenya is staggeringly high. Evidence links infection of the gastric mucosa by H. pylori with subsequent development of gastric pathologies.

Aim. We investigated the prevalence of H. pylori in dyspeptic patients, its relationship with gastric pathologies, and associated antibiotic susceptibility profiles, and compared two media to find the appropriate medium that enhances growth and expedites culture and isolation.

Methods. Rapid urease and histological tests were used to screen for H. pylori. Culture was performed to test sensitivity and evaluate media. Selective and nutritional supplements were added to culture media (Colombia blood agar and brainheart infusion …

Population Pharmacokinetics And Pharmacodynamics Of Artemether And Lumefantrine During Combination Treatment In Children With Uncomplicated Falciparum Malaria In Tanzania, S.F. Hietala, A. Martensson, B. Ngasala, S. Dahlstrom, N. Lindegardh, A. Annerberg, Zul Premji, A. Farnert, P. Gil, A. Bjorkman, M. Ashton

Pathology, East Africa

The combination of artemether (ARM) and lumefantrine is currently the first-line treatment of uncomplicated falciparum malaria in mainland Tanzania. While the exposure to lumefantrine has been associated with the probability of adequate clinical and parasitological cure, increasing exposure to artemether and the active metabolite dihydroartemisinin (DHA) has been shown to decrease the parasite clearance time. The aim of this analysis was to describe the pharmacokinetics and pharmacodynamics of artemether, dihydroartemisinin, and lumefantrine in African children with uncomplicated malaria. In addition to drug concentrations and parasitemias from 50 Tanzanian children with falciparum malaria, peripheral parasite densities from 11 asymptomatic children were …

Sox11 Expression Is Highly Specific For Mantle Cell Lymphoma And Identifies The Cyclin D1-Negative Subtype., Ana Mozos, Cristina Royo, Elena Hartmann, Daphne De Jong, Cristina Baró, Alexandra Valera, Kai Fu, Dennis D. Weisenburger, Jan Delabie, Shih-Sung Chuang, Elaine S. Jaffe, Carmen Ruiz-Marcellan, Sandeep Dave, Lisa Rimsza, Rita Braziel, Randy D. Gascoyne, Francisco Solé, Armando López-Guillermo, Dolors Colomer, Louis M. Staudt, Andreas Rosenwald, German Ott, Pedro Jares, Elias Campo

Journal Articles: Pathology and Microbiology

BACKGROUND: Cyclin D1-negative mantle cell lymphoma is difficult to distinguish from other small B-cell lymphomas. The clinical and pathological characteristics of patients with this form of lymphoma have not been well defined. Overexpression of the transcription factor SOX11 has been observed in conventional mantle cell lymphoma. The aim of this study was to determine whether this gene is expressed in cyclin D1-negative mantle cell lymphoma and whether its detection may be useful to identify these tumors.

DESIGN AND METHODS: The microarray database of 238 mature B-cell neoplasms was re-examined. SOX11 protein expression was investigated immunohistochemically in 12 cases of cyclin …

Comparison Of Estrogen Receptors, Progesterone Receptors And Her-2/Neu Expression Between Primary And Metastatic Breast Carcinoma, Muhammad Azam, Asim Qureshi, Samina Mansoor

Department of Pathology and Laboratory Medicine

OBJECTIVE: To determine whether receptor status and HER-2/neu status remains same in primary and metastatic breast carcinoma to corresponding lymph nodes of individual patients.

METHODS: Estrogen receptors, progesterone receptors and HER-2/neu immunohistochemical stains were performed on primary and metastatic breast carcinoma to axillary lymph nodes in 100 patients. Data was collected on a Performa and age, tumour size, type, grade and expression of ER, PR and HER-2/neu on primary and metastatic tumours were recorded.

RESULTS: Hormone receptor status was compared between primary and metastatic tumours. Estrogen receptor positivity was observed in 28% primary tumours which were reduced to 25% in …

Biomarker Changes Associated With Tuberculin Skin Test (Tst) Conversion: A Two-Year Longitudinal Follow-Up Study In Exposed Household Contacts, Rabia Hussain, Najeeha Talat, Firdaus Shahid, Ghaffar Dawood

Department of Pathology and Laboratory Medicine

Background:A high prevalence (50-80%) of Tuberculin Skin Test Positivity (TST+ >or=10 mm indurations) has been reported in TB endemic countries. This pool forms a huge reservoir for new incident TB cases. However, immune biomarkers associated with TST conversion are largely unknown. The objective of this study was to identify immune biomarkers associated with TST conversion after acute Mycobacterium tuberculosis (MTB)
Methodology/Principal Findings:A 24 month longitudinal study was carried out in a recently MTB exposed cohort of household contacts (HC = 93, 75% TST+). Control group consisted of unexposed community controls (EC = 59, 46%TST+). Cytokine secretion was assessed …

Brachyspira Species Blood Stream Infection, Mohammad Zeeshan, Seema Irfan, Ishfaq Ahmed

Department of Pathology and Laboratory Medicine

The spirochetes inhabiting the large intestines of humans and animals consist of a diverse group of related organisms. Intestinal spirochetosis caused by Brachyspira pilosicoli is a newly recognized enteric disease of human being and animals manifest as mild colitis and diarrhoea. Few cases have been reported of spirochetaemia especially in critically ill and immunocomprised patients. This is another case of spirochetaemia in a patient diagnosed as a case of chronic liver disease secondary to hepatitis C virus, presented in emergency room with history of fever, abdominal pain and slightly altered mental state. Brachyspira pilosicoli was isolated in anaerobic blood culture …

Breast Carcinoma Grading, Estimation Of Tumor Size, Axillary Lymph Node Status, Staging, And Nottingham Prognostic Index Scoring On Mastectomy Specimens., Zubair Ahmad, Amna Khurshid, Asim Qureshi, Romana Idress, Nasira Asghar, Naila Kayani Naila Kayani

Department of Pathology and Laboratory Medicine

Introduction: Breast carcinoma is the most common malignant tumor and the leading cause of cancer death in women. In western countries, a sharp increase in the detection of breast carcinoma, largely due to widespread use of mammography, has recently led to a fall in breast cancer mortality. This, however, is not true for less developed countries, in which mortality continues to rise.
Objective:The aim of this study was to acquire information about the extent and spread of breast carcinoma in our Patients by grading the tumors, determining the tumor size, and axillary lymph node status, staging of the tumors …

Calcifying Fibrous Pseudotumor In Association With Hyaline Vascular Type Castleman's Disease., Muhammad Azam, Yousuf A Husen, Shahid Pervez

Department of Pathology and Laboratory Medicine

Calcifying fibrous pseudotumor is a recently described rare entity. It is considered as sclerosing end stage of inflammatory myofibroblastic tumor. An association with hyaline vascular type Castleman's disease has also been described. We report a case of a 13-year-old boy who presented with pain in epigastrium. Computed tomography scan of abdomen revealed a circumscribed mass arising from the gastric wall along the greater curvature. Histology revealed a tumor composed of spindle cells present within the dense hyalinized collagenous tissue. Lymphoplasmacytic infiltrate was seen along with lymphoid follicles, dystrophic and ossifying calcification. Tumor cells were focally positive for alpha smooth muscle …

Foxp3-Expressing T Regulatory Cells (T-Regs) Increase With The Severity Of Active Disease In Chronic Hepatitis C, Adam D. Toll, Md, John L. Farber, Md

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The hepatitis C virus (HCV) leads to chronic disease in 80% of those infected and is associated with a chronic inflammatory response that is mediated by both cytokine producing (CD4+) and cytotoxic T cells (CD8+). FoxP3-expressing, CD4+, CD25+T cells (T-regs) are a subset of T lymphocytes that inhibit immune responsiveness and thereby control immunological reactions. Whether FoxP3+ T regulatory cell-mediated suppression is a factor in HCV persistence and/or the course of chronic liver injury has not been defined. In order to assess the association between these T regulatory cells and the severity of chronic hepatitis C, we evaluated liver biopsies …

Labrad : Vol 34, Issue 3 - October 2009, Aga Khan University Hospital, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• Detection of Amoebic Meningitis by Wet Film of Cerebrospinal Fluid (CSF)
• Biochemical Tests in the Diagnosis of Anaemia
• Pathophysiology and Laboratory Investigation in Anaemia of Chronic Disease
• Haematogones: A pitfall in the Diagnosis of Leukemias/Lymphoma in Children
• Porphyria: The Mysterious Disease
• Imaging Features of Thalassaemia and Sickle Cell Anaemia
• N-Terminal Pro-BNP for Rapid Diagnosis of Heart Failure
• Frozen Section: A Rapid Diagnostic Tool
• Prenatal Diagnosis of ß-Thalassaemia
• Farewell to Administrative Director, Mr Sajid Khan

Geographic Variation And Environmental Conditions As Cofactors In Chlamydia Psittaci Association With Ocular Adnexal Lymphomas: A Comparison Between Italian And African Samples, Alessandro Carugi, Anna Onnis, Giuseppina Antonicelli, Benedetta Rossi, Susanna Mannucci, Anna Luzzi, Stefano Lazzi, Cristiana Cristiana Bellan, Gian Marco Tosi, Shahin Sayed, Giulia De Falco, Lorenzo Leoncini

Pathology, East Africa

A particular extra-nodal lymphoma type arises from B cells of the marginal zone (MZ) of mucosa-associated lymphoid tissue (MALT). The aetiology ofMZ lymphomas suggests that they are associated with chronic antigenic stimulation by microbial pathogens, among which Helicobacter pylori-associated gastricMALT lymphoma is the best studied. Recently, MALT lymphomas have been described in the context of chronic conjunctivitis, which can be associated with Chlamydia spp. infection. Studies from Italy showed the presence of Chlamydia psittaci in 87% of ocular adnexal lymphomas (OAL), and C. psittaci has been described in a large part of samples from Austria and Korea as well. However, …

Classic Virilizing Congenital Adrenal Hyperplasia Presenting Late: Case Series From Pakistan, Aysha Habib Khan, Muniba Aban, Rameez-Ul-Hassan, Naeem-Ul-Haq, Jamal Raza, Abdul Jabbar, Tariq Moatter

Department of Pathology and Laboratory Medicine

Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH). This results in deficient cortisol, increased ACTH, adrenal hyperplasia and increased adrenal androgen secretion. There is marked virilization in genetic females which is the hallmark of this disorder. Genetic heterogeneity in 21 OHD is well recognized, and both severe and mild forms occur. We present three cases of adult females with the disease from a larger study to establish genotype, phenotype correlation of Pakistani patients with congenital adrenal hyperplasia (CAH) and to highlight issues such as diagnostic delay, inappropriate gender assignment at birth, …

The Elucidation Of Metabolic Pathways And Their Improvements Using Stable Optimization Of Large-Scale Kinetic Models Of Cellular Systems, Evgeni V. Nikolaev

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Metabolic engineering of cellular systems to maximize reaction fluxes or metabolite concentrations still presents a significant challenge by encountering unpredictable instabilities that can be caused by simultaneous or consecutive enhancements of many reaction steps. It can therefore be important to select carefully small subsets of key enzymes for their subsequent stable modification compatible with cell physiology. To address this important problem, we introduce a general mixed integer non-linear problem (MINLP) formulation to compute automatically which enzyme levels should be modulated and which enzyme regulatory structures should be altered to achieve the given optimization goal using non-linear kinetic models of relevant …

A Comparative Study Of The Genotype Mtbdrplus® Assay Against A Standard Culture Method For Diagnosis And Drug Susceptibility Testing Of Tuberculosis, Peris W. Thamaini

Master of Medicine in Clinical Pathology

Background: Nearly one-third of the global population, i.e. two billion people, is infected with Mycobacterium tuberculosis and is at risk of developing the disease. More than eight million people develop active tuberculosis (TB) every year, with about two million dying from the disease annually. Diagnosis of tuberculosis inKenya remains dependent on smear microscopy. New methods of TB diagnosis are needed which have better accuracy and are still cost effective. Molecular methods of TB diagnosis have come under investigation in a lot of studies recently. However, they have their own limitations including the inability to differentiate between active organisms and dead …

Median Values For Second-Trimester Maternal Serum Αlpha Fetoprotein And Human Chorionic Gonadotrophin (Double Test) At Aga Khan University Hospital-Nairobi, Nancy A. Okinda

Master of Medicine in Clinical Pathology

Aim To establish median values for second trimester maternal serum human chorionic gonadotrophin (HCG) and alpha fetoprotein (AFP) at Aga Khan University Hospital- Nairobi (AKUH-N) using the Abbott Micro particle Enzyme immunoassay. Specific objectives •To perform measurements of second trimester maternal serum human chorionic gonadotrophin (HCG) and alpha fetoprotein (AFP) and to establish observed and regressed median values. •To establish regression coefficients for regressed medians of AFP and HCG. •To compare these data with data obtained from other geographical regions. Methodology 330 serum samples from women of gestational ages 15 to 20 weeks were analyzed for AFP and HCG. Observed …

Old Disease, New Targets. Part-Ii, Haematological Malignancies, Shiyam Kumar, Nehal Masood, Salman Naseem Adil

Department of Pathology and Laboratory Medicine

In last two decades newer therapies in cancer treatment have emerged and have opened new horizons. New term of targeted therapy has emerged and for certain malignancies the paradigm has really changed after the introduction of these agents. We have learnt and have seen the outcome of some diseases after the addition of these monoclonal antibodies (MoABs) and tyrosine kinase inhibitors (TKIs). Rituximab a MoAB against CD-20 has really paved its role in the treatment of B-cell lymphomas and become the sort of standard therapy. The TKIs are newer agents available in a pill form and have inhibited many pathways …

Vaginal Clear Cell Adenocarcinoma With Associated Mullerian Duct Anomalies, Renal Agenesis And Situs Inversus: Report Of A Case With No Known In-Utero Exposure With Diethyl Stilboestrol, Zeeshan-Ud-Din, Aamir Ahsan

Department of Pathology and Laboratory Medicine

A 27 year old female presented with two months history of continuous vaginal bleeding. On evaluation, she was diagnosed as a case of vaginal clear cell adenocarcinoma (VCCA) along with associated Mullerian duct anomalies including didelphys uterus with double vagina; left sided renal agenesis and situs inversus. Although VCCA is strongly linked to in-utero exposure with Diethyl stillboestrol (DES), this patient had no known history regarding such exposure. Also, only a few cases have been described in the literature in which this tumour was seen in association with Mullerian duct anomalies and renal agenesis; in the absence of known DES …

Population Study Of 1311 C/T Polymorphism Of Glucose 6 Phosphate Dehydrogenase Gene In Pakistan - An Analysis Of 715 X-Chromosomes., Bushra Moiz, Amna Nasir, Tariq Moatter, Zulfiqar Ali Naqvi, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

Background:Nucleotide 1311 polymorphism at exon 11 of G6PD gene is widely prevalent in various populations of the world. The aim of the study was to evaluate 1311 polymorphism in subjects carrying G6PD Mediterranean gene and in general population living in Pakistan.

Results:

Patients already known to be G6PD deficient were tested for 563C-T (G6PD Mediterranean) and 1311 C-T mutation through RFLP based PCR and gene sequencing. A control group not known to be G6PD deficient was tested for 1311C/T only.C-T transition at nt 1311 was detected in 60/234 X-chromosomes with 563 C-T mutation (gene frequency of 0.26) while in …