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Aga Khan University

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Articles 211 - 240 of 277

Full-Text Articles in Microbiology

Systemic Mastocytosis: A Rare Entity, Naveen Naz Syed, Bushra Moiz Jul 2006

Systemic Mastocytosis: A Rare Entity, Naveen Naz Syed, Bushra Moiz

Department of Pathology and Laboratory Medicine

An 18 year old female presented with generalized maculopapular rash and headaches. The skin and bone marrow biopsy revealed numerous mast cells which stained metachromatically with giemsa and toludine blue stains and showed positivity with CD68 and CD117 on immunohistochemistry. Her clinical presentation and laboratory findings were consistent with the diagnosis of indolent systemic mastocytosis. Because of the benign course of the disease, patient was offered only anti-histamine drugs that were quite successful in alleviating her symptoms.


Mixed Epithelial And Stromal Tumour Of Kidney, Fozia Rauf, Nausheen Yaqoob, Akhtar Husain Jul 2006

Mixed Epithelial And Stromal Tumour Of Kidney, Fozia Rauf, Nausheen Yaqoob, Akhtar Husain

Department of Pathology and Laboratory Medicine

Mixed epithelial and stromal tumour of kidney is a recently described, rare entity and includes cases previously termed as cystic hamartoma of renal pelvis and adult mesoblastic nephroma. We report a case of 36 years old female who presented with a history of recurrent loose stools for 5 years. During ultrasound abdomen, a solid right renal mass was incidentally found in upper pole of right kidney. On gross examination it was a 3.5 cm diameter mass which was microscopically composed of both epithelial and stromal components in the form of cystically dilated tubules and fascicles of spindle shaped cells. These …


First Report Of Ophthalmomyaisis Externa In Pakistan, Azam Ali, Agha Hassan Feroze, Paul Ferrar, Asad Abbas, Mohammad Asim Beg Feb 2006

First Report Of Ophthalmomyaisis Externa In Pakistan, Azam Ali, Agha Hassan Feroze, Paul Ferrar, Asad Abbas, Mohammad Asim Beg

Section of Ophthalmology

Two individuals presented to the Aga Khan University Opthalmology service with foreign-body sensation, pain and redness in one of their eyes. Slit-lamp biomicroscopy revealed tiny larvae crawling around the conjunctival sac. They were mechanically removed under topical anaesthesia and preserved for light microscopy and photography. Comprehensive liaison was established with the Australian Centre for International Agriculture Research for identification of these larvae. Their morphology characterized them as members of fruit-fly, Oestridae family. At least one of them was positively identified as first instar larva of Oestrus ovis. This report describes the first instance of such infections in Southern Pakistan, as …


Comparison Of Two Methods (Precipitation Manual And Fully Automated Enzymatic) For The Analysis Of Hdl And Ldl Cholesterol, Jawaid Jabbar, Imran Siddiqui, Qaiser Raza Feb 2006

Comparison Of Two Methods (Precipitation Manual And Fully Automated Enzymatic) For The Analysis Of Hdl And Ldl Cholesterol, Jawaid Jabbar, Imran Siddiqui, Qaiser Raza

Department of Pathology and Laboratory Medicine

Objective:
To compare accuracy and throughput time for the measurement of HDL and LDL cholesterol by manual precipitation and fully automated enzymatic methods.
Methods:
Fifty, serum samples collected over a 4 months period (February - May 2004) were analyzed for HDL and LDL cholesterol by two different methods i.e. precipitation manual and automatic enzymatic method in the section of chemical pathology, Department of Pathology and Microbiology, Aga Khan University Hospital, Karachi Pakistan.
Results:
The mean standard deviation for HDL Cholesterol by precipitation method and automated method were 43.12 +/- 8.97mg/dl and 43.86 +/- 10.34mg/dl respectively (p-value = 0.301). The …


Screening For Cystic Fibrosis: The Importance Of Using The Correct Tools, Uzma Shah, Tariq Moatter Jan 2006

Screening For Cystic Fibrosis: The Importance Of Using The Correct Tools, Uzma Shah, Tariq Moatter

Department of Pathology and Laboratory Medicine

Background: Cystic Fibrosis (CF) is a potentially lethal genetic disorder. The most frequent mutation worldwide in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene is designated as the Delta F508 mutation. This mutation was found in only 33% of Pakistani patients studied. Since the common Pakistani mutations remain to be identified, appropriate screening tools are required to identify disease. Sweat chloride determinations remain the gold standard for diagnosing CF. This study was done to emphasize the importance of using the correct tests.
Methods: The study was conducted at the Aga Khan University Hospital. The CFTR delta F508 mutation was tested …


M. Leprae Inhibits Apoptosis In Thp-1 Cells By Downregulation Of Bad And Bak And Upregulation Of Mcl-1 Gene Expression, Zahra Hasan, Mussarat Ashraf, Ali Tayyebi, Rabia Hussain Jan 2006

M. Leprae Inhibits Apoptosis In Thp-1 Cells By Downregulation Of Bad And Bak And Upregulation Of Mcl-1 Gene Expression, Zahra Hasan, Mussarat Ashraf, Ali Tayyebi, Rabia Hussain

Department of Pathology and Laboratory Medicine

Background: Virulent Mycobacterium leprae interfere with host defense mechanisms such as cytokine activation and apoptosis. The mitochondrial pathway of apoptosis is regulated by the Bcl-2 family of proteins. Expression of Fas ligand and apoptotic proteins is found in leprosy lesions and M. leprae has been shown to activate pro-apoptotic Bcl-2 genes, Bak and Bax. However, the mechanism by which M. leprae modulates apoptosis is as yet unclear. We investigated expression of apoptotic genes in THP-1 monocytes in response to infection by M. leprae and non-pathogenic M. bovis BCG.
Results: M. leprae did not induce apoptosis in THP-1 cells, while BCG …


Validity Of Frozen Section In The Diagnosis Of Breast Lumps: 5 Years Experience At The Aga Khan University Hospital., Naila Kayani, Nuzhat Sultana Dec 2005

Validity Of Frozen Section In The Diagnosis Of Breast Lumps: 5 Years Experience At The Aga Khan University Hospital., Naila Kayani, Nuzhat Sultana

Department of Pathology and Laboratory Medicine

Abstract

Objective: To determine the accuracy of frozen section in the diagnosis of breast lump. Methods: Frozen section diagnosis given in consecutive breast biopsies performed in 5 years in our laboratory was evaluated against the final pathology report of permanent sections. Results: The Aga Khan University Hospital Lab receives more than 400 cases per year for frozen section. Three hundred and nineteen consecutive frozen sections of breast lumps examined from 1999-2003 were considered for analysis. Age of patients ranged between 22 and 90 years (mean age 49 years). In 316 cases (99%) there was no difference between the frozen section …


Heterotopic Glial Tissue In Tonsil: A Case Report, Nausheen Yaqoob, Zubair Ahmed, Akhtar Husain Nov 2005

Heterotopic Glial Tissue In Tonsil: A Case Report, Nausheen Yaqoob, Zubair Ahmed, Akhtar Husain

Department of Pathology and Laboratory Medicine

We describe a six month old boy with a mass in the left tonsil. It was present since birth and was enlarging progressively. It was completely excised. Histopathology showed a choristoma of neural origin composed of glial cells--astrocytes in a fibrillary background, and a choroid plexus. Immunohistochemistry confirmed the findings.


Metanephric Adenoma: A Rare Benign Renal Tumour, Nausheen Yaqoob, Jai Pal Paryani, Naila Kayani, Mohammad Zafar Rafique, Raziuddin Biyabani Nov 2005

Metanephric Adenoma: A Rare Benign Renal Tumour, Nausheen Yaqoob, Jai Pal Paryani, Naila Kayani, Mohammad Zafar Rafique, Raziuddin Biyabani

Department of Pathology and Laboratory Medicine

Metanephric adenoma is a rare benign renal tumour. We are reporting one histologically proven such case in a 23 year old male from Afghanistan. He presented with severe right flank pain since 3 weeks. Nephrectomy was done and histopathology was consistent with the diagnosis of metanephric adenoma. This novel renal mass has been reported to have benign clinical course despite its symptomatic presentation and large tumour size. There is no distinguishing radiological feature with can differentiate it from malignant tumours. So far, a uniformly benign clinical course has been associated with Metanephric adenoma, but given its relatively recent identification and …


Lymphoepithelioma-Like Carcinoma Of Urinary Bladder: (Lelca), Nausheen Yaqoob, Naila Kayani, Jaipal Piryani, Mohammad Nasir Sulaiman, Sheema H. Hasan Sep 2005

Lymphoepithelioma-Like Carcinoma Of Urinary Bladder: (Lelca), Nausheen Yaqoob, Naila Kayani, Jaipal Piryani, Mohammad Nasir Sulaiman, Sheema H. Hasan

Department of Pathology and Laboratory Medicine

Lymphoepithelioma-like carcinoma of the bladder (LELCA) is an uncommon neoplasm of the urinary bladder and up till now only 49 cases have been reported in the English literature. It is imperative to distinguish between lymphoepithelioma-like carcinoma and malignant lymphoma as primary bladder lymphoma is extremely rare. We report a case of a 55 year old lady who presented with the complaint of burning micturition and gross hematuria for the past 5 months. There were no other known comorbids. Pelvic ultrasound was normal. Cystoscopy showed a 4x4 cm sessile mass in the bladder. Histopathological examination was consistent with the diagnosis of …


To Compare The Total Cholesterol And Hdl-Cholesterol Before And After Ultra-Centrifugation In Lipemic Samples, Jawaid Jabbar, Imran Siddiqui, Syed Qaiser Raza, Ayaz Baig Jun 2005

To Compare The Total Cholesterol And Hdl-Cholesterol Before And After Ultra-Centrifugation In Lipemic Samples, Jawaid Jabbar, Imran Siddiqui, Syed Qaiser Raza, Ayaz Baig

Department of Pathology and Laboratory Medicine

Objective: It is an everyday routine in laboratories to encounter interference in the analysis of lipids. These likely interferences (hemolysis, icterus and lipemia) are countered by asking physicians and patients to send fresh and properly collected samples. At the Aga Khan University (AKU) Laboratory, we receive 2-3 lipemic/turbid samples per day. Previously it was our departmental policy to advise these patients to go for lipoprotein electrophoresis, which though accurate was time consuming and not cost effective. We therefore studied ultra centrifugation/airfuge as an alternate method to clear lipid interference and provide accurate, reliable and cost effective results.
Methods: Daily 2-3 …


Ductal Carcinoma In Situ (Dcis) In Karachi, Naila Kayani, Yasmin Bhurgri May 2005

Ductal Carcinoma In Situ (Dcis) In Karachi, Naila Kayani, Yasmin Bhurgri

Department of Pathology and Laboratory Medicine

Objective:
To study the frequency of ductal carcinoma in situ (DCIS) in a large pathology series. DCIS is a proliferation of non-invasive, malignant epithelial cells within the ductolobular system of the breast. It is a heterogeneous entity with several morphologic variants that differ in gross appearance, growth pattern, cytologic features, mammography, and malignant potential.
Methods:
The data of The Aga Khan University' Pathology Department, diagnosed on the basis of histopathology, during a 6-year period (1st January 1998 to 31st December 2003) was reviewed, all cases of DCIS studied, and data was analyzed with the help of analytical software SPSS.
Results: …


Trefoil Factor 2 (Tff2) Deficiency In Murine Digestive Tract Influences The Immune System, M. Baus- Loncar, J. Schmid, El-Nasir Lalani, I. Rosewell, R. A. Goodlad, H. G.W. Stamp, N. Blin, T. Kayademir Apr 2005

Trefoil Factor 2 (Tff2) Deficiency In Murine Digestive Tract Influences The Immune System, M. Baus- Loncar, J. Schmid, El-Nasir Lalani, I. Rosewell, R. A. Goodlad, H. G.W. Stamp, N. Blin, T. Kayademir

Department of Pathology and Laboratory Medicine

Background & Aims:

The gastrointestinal trefoil factor family (TFF1, TFF2, TFF3) peptides are considered to play an important role in maintaining the integrity of the mucosa. The physiological role of TFF2 in the protection of the GI tract was investigated in TFF2 deficiency.

Methods:

TFF2-/- mice were generated and differential expression of various genes was assessed by using a mouse expression microarray, quantitative real time PCR, Northern blots or immunohistochemistry.

Results:

On an mRNA level we found 128 differentially expressed genes. We observed modulation of a number of crucial genes involved in innate and adaptive immunity in the TFF2-/- mice. …


Psychomotor Skills For The Undergraduate Medical Curriculum In A Developing Country--Pakistan, Rashida Ahmed, Zoon Naqvi, Ineke Wolfhagen Mar 2005

Psychomotor Skills For The Undergraduate Medical Curriculum In A Developing Country--Pakistan, Rashida Ahmed, Zoon Naqvi, Ineke Wolfhagen

Department of Pathology and Laboratory Medicine

Objective: To identify essential psychomotor skills for all the medical graduates of an undergraduate programme in Pakistan.
Materials and Methods: Twenty-five physicians practising in a tertiary care centre and ninety primary care physicians used a Likert's scale, ranging from "very essential" to"not required at all", to mark 99 psychomotor skills in the undergraduate medical curriculum in Pakistan.
Results: Overall the opinions of both the groups about the essential skills matched except for a few areas.
Conclusion: This study provides baseline data about psychomotor skills that a medical graduate in developing countries should be able to perform. Further studies will be …


Ovarian Primary Neuroendocrine Carcinoma Of Non-Small Cell Type: Report Of An Extremely Rare Neoplasm, Zubair Ahmed, Kanwal Aftab, Naila Kayani Feb 2005

Ovarian Primary Neuroendocrine Carcinoma Of Non-Small Cell Type: Report Of An Extremely Rare Neoplasm, Zubair Ahmed, Kanwal Aftab, Naila Kayani

Department of Pathology and Laboratory Medicine

Paraffin block sections of a uterus and ovarian mass from a 31 year old female were sent for second opinion to the Pathology Laboratory of Aga Khan University. Histologic examination and immunohistochemical features gave a diagnosis of primary neuroendocrine carcinoma of non-small cell type admixed with benign mucinous cystadenoma. This is a rare tumour with only eight being reported in literature.


Pleomorphic Liposarcoma In A Ten Year Old Child, Z Ahmed, H U. Shah, N Yaqoob, S Muzaffar Oct 2004

Pleomorphic Liposarcoma In A Ten Year Old Child, Z Ahmed, H U. Shah, N Yaqoob, S Muzaffar

Department of Pathology and Laboratory Medicine

No abstract provided.


Impact Of Antibiotic Usage On Resistance In Microorganisms; Urinary Tract Infections With E-Coli As A Case In Point, N Sabir, Erum Khan, L Sheikh, Rumina Hasan Sep 2004

Impact Of Antibiotic Usage On Resistance In Microorganisms; Urinary Tract Infections With E-Coli As A Case In Point, N Sabir, Erum Khan, L Sheikh, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objectives:
In this study, we sought to establish a correlation between consumption of flouoroquinolones in our hospital and the emergence of ofloxacin resistant strains of E. coli in the urinary specimens. Data of all urinary samples, received at Aga Khan University Hospital between January 1995 and December 2002, was retrieved and analyzed. Specimens yielding E-coli as an isolate were included in this study.
Methods:
E. coli Isolates showing >103 colonies were identified using standard microbiological techniques. Antibiotic susceptibility of E. coli was tested using Kirby Bauer disc diffusion method. Antimicrobial usage data, obtained through hospital Pharmacy as unit utilized per …


Frequency Of Hereditary Thrombophilia: An Akuh Experience., Safoorah Khalid, Raihan Sajid, Salman Adil, Mohammad Khurshid Aug 2004

Frequency Of Hereditary Thrombophilia: An Akuh Experience., Safoorah Khalid, Raihan Sajid, Salman Adil, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

Abstract

Objective: To determine the frequency of various causes of hereditary thrombophilia at a referral laboratory and the age and gender distribution.

Methods: This is a descriptive study incorporating a retrospective analysis of requests for thrombophilia screening sent to Clinical laboratory, Aga Khan University Hospital from November 1995 to May 2002.
Patients were screened for hereditary causes of thrombophilia including Protein C, Protein S, antithrombin III, Factor V Leiden and homocysteine. Frequency of each disorder; and age and sex distribution was determined.

Results: All the patients suspected clinically for thrombophilia were screened. Of the 2825 patients, 70 were diagnosed to …


Solid Cystic Papillary Epithelial Neoplasm Of Pancreas: A Series Of Three Cases With Review Of Literature, Z Ahmed, N Yaqoob, S Muzaffar, N Kayani, R Minhas Jul 2004

Solid Cystic Papillary Epithelial Neoplasm Of Pancreas: A Series Of Three Cases With Review Of Literature, Z Ahmed, N Yaqoob, S Muzaffar, N Kayani, R Minhas

Department of Pathology and Laboratory Medicine

No abstract provided.


Evaluation Of Frequency Of Isolation And Trends In Antibiotic Resistance Among Campylobacter Isolates Over 11 Year Period, N G. Ibrahim, Afia Zafar, Rumina Hasan Jun 2004

Evaluation Of Frequency Of Isolation And Trends In Antibiotic Resistance Among Campylobacter Isolates Over 11 Year Period, N G. Ibrahim, Afia Zafar, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objective:
To analyze frequency of isolation and trends in antibiotic resistance among Campylobacter isolates over 11 year period in Microbiology Laboratory, Aga Khan University from the year 1992-2002.
Methods:
Total 52,777 stool specimens were processed during the study period. Enteric pathogens isolated from 8,483 stool samples were further analyzed for frequency of isolation and antimicrobial resistance. Statistical Analysis was done by using descriptive statistics of SPSS version 10. Values were expressed as percentages, mean and rates.
Results:
Campylobacter species were third in frequency of isolation with an isolation rate of 24.8%. C. jejuni was the predominant pathogen followed by C.coli. …


Mucormycosis Complicating Interstitial Nephritis--Two Cases And Brief Literature Review, A Malik, A Soofi, A Ahmad, N Kayani Jun 2004

Mucormycosis Complicating Interstitial Nephritis--Two Cases And Brief Literature Review, A Malik, A Soofi, A Ahmad, N Kayani

Department of Pathology and Laboratory Medicine

No abstract provided.


Mammary Echinococcosis: Two Cases And Literature Review, N Yaqoob, N Kayani, M S. Shamim May 2004

Mammary Echinococcosis: Two Cases And Literature Review, N Yaqoob, N Kayani, M S. Shamim

Department of Pathology and Laboratory Medicine

No abstract provided.


Q-Probes Study Of Replicate Specimens At The Clinical Laboratory, The Aga Khan University Hospital, Karachi, L Ali, I Siddiqui Feb 2004

Q-Probes Study Of Replicate Specimens At The Clinical Laboratory, The Aga Khan University Hospital, Karachi, L Ali, I Siddiqui

Department of Pathology and Laboratory Medicine

Objective: The aim of this Q-probes study was to evaluate the precision of replicate specimens.Methods: This Q-probes study done at the Clinical Laboratory, The Aga Khan University Hospital Karachi is about routine chemistry analytes because of their importance in critical care patients. The analytes data was collected for six months from April to September 2002. There were total 358 samples, which were given for reanalysis during this period under the constant working conditions. After analysis, results of both the runs on different days, were compared to determine the percent difference between the results. After calculating the percent difference, the results …


Comparison Of Double Disc And Combined Disc Method For The Detection Of Extended Spectrum Beta Lactamases In Enterobacteriaceae, K Jabeen, A Zafar, Rumina Hasan Nov 2003

Comparison Of Double Disc And Combined Disc Method For The Detection Of Extended Spectrum Beta Lactamases In Enterobacteriaceae, K Jabeen, A Zafar, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objective:
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To compare double disc approximation and combined disc method for their ability to detect extended spectrum b lactamase (ESBL) production in enterobacteriaceae and determine the percentage of isolates which are falsely reported as sensitive in absence of ESBL detection, in a clinical microbiology laboratory of a tertiary care hospital between September-October 2002.
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Selected isolates were identified according to standard biochemical tests. Disc susceptibility tests were performed according to NCCLS. ESBL detection by combined disc [cefotaxime (30 ug) versus cefotaxime plus clavulanate (30+10 ug)] was compared with detection using double discs [amoxy-clavulanic acid (20+10 ug) and …


Renal Carcinoid Tumour, Z Ahmad, N Yaqoob, S Muzaffar, A S. Hussainy, S H. Hasan Oct 2003

Renal Carcinoid Tumour, Z Ahmad, N Yaqoob, S Muzaffar, A S. Hussainy, S H. Hasan

Department of Pathology and Laboratory Medicine

No abstract provided.


Renal Teratoma: A Rare Entity, N Yaqoob, Z Ahmed, N Jafri, S Muzaffar, S H. Hasan Oct 2003

Renal Teratoma: A Rare Entity, N Yaqoob, Z Ahmed, N Jafri, S Muzaffar, S H. Hasan

Department of Pathology and Laboratory Medicine

No abstract provided.


Spectrum Of Cutaneous Appendage Tumors At Aga Khan University Hospital, N Yaqoob, Z Ahmad, S Muzaffar, M S. Gill, I N. Soomro, S H. Hasan Sep 2003

Spectrum Of Cutaneous Appendage Tumors At Aga Khan University Hospital, N Yaqoob, Z Ahmad, S Muzaffar, M S. Gill, I N. Soomro, S H. Hasan

Department of Pathology and Laboratory Medicine

Objective: To determine the frequency of various types of cutaneous appendage tumors in our practice.
Method: This is a partly retrospective and partly prospective study conducted at the Department of Pathology, Histopathology Section, The Aga Khan University Hospital, Karachi between 1st January 1997 and 31st December 2001.
Results: One hundred sixty six skin appendage tumors were diagnosed during the study period. 87.3% were benign, while 12.6% were malignant. Male female ratio was almost equal. Mean age was 41.72 years. 37.34% showed eccrine differentiation, 14.45% showed apocrine differentiation and 41.56% showed pilosebaceous differentiation, 6.62% exhibited mixed differentiation. The 5 commonest tumors …


Leiomyosarcoma Presenting As A Spontaneously Ruptured Renal Tumor-Case Report, Mohammad Moazzam, M Hammad Ather, Akber S. Hussainy Nov 2002

Leiomyosarcoma Presenting As A Spontaneously Ruptured Renal Tumor-Case Report, Mohammad Moazzam, M Hammad Ather, Akber S. Hussainy

Department of Pathology and Laboratory Medicine

Background:
Ruptured renal neoplasms can be a catastrophic clinical presentation. Angiomyolipoma is the commonest renal tumor which presents in this fashion. Renal sarcomas are rare renal neoplasms. Renal leiomyosarcomas are the most common histological subtype of renal sarcomas, accounting for approximately 50-60% of the reported cases. These tumors are usually peripherally located and appear to arise from either the renal capsule or smooth muscle tissue in the renal pelvic wall.
Case presentation:
A 70 years old male, with hypertension and ischemic disease, developed acute left flank pain. The general physician evaluated this using ultrasound, which showed a solid left renal …


Csf Oligoclonal Bands In Multiple Sclerosis, I Siddiqui, S Aleem, N Kayani, S Baig Aug 2002

Csf Oligoclonal Bands In Multiple Sclerosis, I Siddiqui, S Aleem, N Kayani, S Baig

Department of Pathology and Laboratory Medicine

Objective:
To study the significance of oligoclonal bands in neurological disorders, specifically in Multiple Sclerosis (MS).
Methods:
The study was designed to assess the sensitivity and specificity of the test methodology of CSF electrophoresis by performing the retrospective analysis of CSF samples sent for oligoclonal bands (OCB). A total of 603 samples were received by the Clinical Laboratories, Department of Pathology of The Aga Khan University, during a period of 54 months (January 1993-June 1997). All of these samples were analyzed by performing CSF protein electrophoresis. One hundred thirty three out of 603 samples showed evidence of OCB. Out …


Characterization Of Pathogenic Mutations In 21-Hydroxylase Gene Of Pakistani Patients With Congenital Adrenal Hyperplasia And Their Family Members--A Preliminary Report, A H. Khan, M I. Nasir, T Moatter Jul 2002

Characterization Of Pathogenic Mutations In 21-Hydroxylase Gene Of Pakistani Patients With Congenital Adrenal Hyperplasia And Their Family Members--A Preliminary Report, A H. Khan, M I. Nasir, T Moatter

Department of Pathology and Laboratory Medicine

Objective:
To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations.
Subjects and Methods:
Five families, having an index case with CAH diagnosed on the basis of clinical and biochemical findings volunteered to give blood samples for analysis. A strategy, based on ARMS-PCR (Amplified Refractory Mutation System) was employed for the detection of mutations in 21-hydroxylase gene. The products of ARMS-PCR were resolved on agarose gels and the PCR products were visualized over ultra violet illumination.
Results:
Twenty-six specimens were analyzed …