Medicine and Health Sciences Commons^™

Ethnic Disparity In 21-Hydroxylase Gene Mutations Identified In Pakistani Congenital Adrenal Hyperplasia Patient, Aysha Habib Khan, Muniba Aban, Jamal Raza, Naeem Ul Haq, Abdul Jabbar, Tariq Moatter

Department of Pathology and Laboratory Medicine

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH.

Methods: A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay.

Results: Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females …

Assessing Two Spirometric Criteria Of Pre-Bronchodilator And Post-Bronchodilator Fev1/Fvc Ratio In Detecting Air Flow Obstruction, Zeeshan Waheed, Muhammad Irfan, Ahmed Suleman Haque, Najmul Hasan Siddiqui, Safia Awan, Beenish Syed, Javaid Khan

Section of Pulmonary & Critical Care

OBJECTIVES: To assess the Pre-bronchodilator criteria and the Post-bronchodilator criteria of FEV1/FVC ratio in diagnosing Airflow obstruction.

METHODS: An observational study was conducted from 1988 to 2006 at the Aga Khan University Hospital Patients referred to the pulmonary function test laboratory for spirometry with bronchodilator reversibility at the hospital during the above said period were enrolled. Forced spirometry was performed according to ATS guidelines. All patients who had pre-bronchodilator criteria of airflow obstruction were analyzed and compared with the post bronchodilator criteria.

RESULTS: A total of 4222 individuals underwent spirometry out of which 4072 individuals were studied. Using the pre …

Frequency Of Silent Myocardial Ischaemia In Diabetics: A Single Centre Study, Adil Sheikh, Syed Shah Faisal, Abdul Jabbar

Section of Diabetes, Endocrinology and Metabolism

OBJECTIVE: To find the frequency of silent myocardial ischaemia in diabetics as compared to non-diabetics.

METHODS: This was a cross sectional study conducted between November 2008 and March 2010. Two hundred subjects were recruited by convenience sampling after informed consent. All were subjected to an exercise stress test. Electrocardiographic changes were noted for silent Ischaemia Descriptive Statistics were applied for significance.

RESULT: Of the 200 subjects included in the study, 31 had diabetes and 1 69 were non-diabetics. The mean age was 46 +/- 10 years. Twenty eight subjects tested positive for silent ischaemia, of whom six were diabetics (19%) …

Hughes-Stovin Syndrome, Umair Khalid, Taimur Saleem

Section of Pulmonary & Critical Care

Hughes-Stovin Syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. Less than 40 published cases of HSS have been described in English medical literature so far. The exact etiology and pathogenesis of HSS is unknown, possible causes include infections and angiodysplasia. HSS has also been considered as a variant of Behcet's disease (BD). Patients with HSS usually present with cough, dyspnea, fever, chest pain and haemoptysis. The management of HSS can either be medical or surgical. Medical management includes the use of steroids and cytotoxic agents. Cyclophosphamide, in particular, is a favored …

Spurious Hyperkalaemia: An Insight, Khawaja Salman Zaki, Uzma Majid, Najmul Islam

Section of Diabetes, Endocrinology and Metabolism

Hyperkalaemia is a common electrolyte disorder with potentially lethal consequences and can lead to life-threatening cardiac dysrhythmias. Spurious hyperkalaemia, also known as pseudohyperkalaemia or factitious hyperkalaemiais, is also quite common in clinical practice and it's a source of avoidable emergency department visits or hospital admissions. We report a case in which alarming hyperkalaemia was found in a patient having Chronic Monomyelocytic Leukaemia on two different occasions, later diagnosed to be spurious.

Negative Pressure Pulmonary Oedema: A Rare Complication Following General Anaesthesia, Zeeshan Waheed, Javaid Khan

Section of Pulmonary & Critical Care

An important cause of pulmonary oedema is Negative Pressure Pulmonary Oedema (NPPE) which characteristically develops soon after extubation from an endo-tracheal intubation. In this case report we identified a case of previously healthy man who was intubated for General Anaesthesia for extraction of impacted molar tooth. Soon after extubation he developed severe respiratory distress. Immediate diagnosis of NPPE secondary to post extubation laryngospasm was made. He was promptly treated with 100 percent oxygen via CPAP (continuous positive airway pressure) mask and within an hour he markedly improved and subsequently became asymptomatic. NPPE is an important cause of morbidity and need …