Medicine and Health Sciences Commons^™

Whole Exome Sequencing Identifies A Novel Mutation In Aspm And Ultra-Rare Mutation In Cdk5rap2 Causing Primary Microcephaly In Consanguineous Pakistani Families, Ehtisham Ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig, Ghulam Hussain

Department of Biological & Biomedical Sciences

Background & objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH.
Methods: We studied two unrelated consanguineous families (family A and B) presenting >2 patients with diagnostic symptoms of MCPH, born to asymptomatic parents. We employed whole-exome sequencing (WES) of probands to find putative causal mutations. The candidate variants were further confirmed and analyzed for co-segregation by Sanger sequencing of all available members of each …

Burnout, Job Dissatisfaction, And Mental Health Outcomes Among Medical Students And Health Care Professionals At A Tertiary Care Hospital In Pakistan: Protocol For A Multi-Center Cross-Sectional Study, Syed Hamza Mufarrih, Aeman Naseer, Nada Qaisar Qureshi, Zohaib Anwar, Nida Zahid, Riaz Hussain Lakdawala, Shahryar Noordin

Department of Biological & Biomedical Sciences

Burnout, a state of vital exhaustion, has frequently been related to work-related stress and job dissatisfaction. Given the emotionally and physically challenging nature of their work, high rates of burnout have been reported among health care professionals. This may put them at a higher risk for of suffering from adverse mental health outcomes, including depression, anxiety and stress. In our study, we aim to assess the prevalence i of and associations among burnout and job dissatisfaction and adverse mental health outcomes in a developing country, where the challenges faced by the health care system are unique. Facilities are over-burdened and …

Three-Dimensional Visualization Software Assists Learning In Students With Diverse Spatial Intelligence In Medical Education, Zehra Jamil, Amna A. Saeed, Sarosh Madhani, Safia Baig, Zahra Cheema, Syeda Sadia Fatima

Department of Biological & Biomedical Sciences

This study evaluated effect of mental rotation (MR) training on learning outcomes and explored effectiveness of teaching via three-dimensional (3D) software among medical students with diverse spatial intelligence. Data from n = 67 student volunteers were included. A preliminary test was conducted to obtain baseline level of MR competency and was utilized to assign participants to two experimental conditions, i.e., trained group (n = 25) and untrained group (n = 42). Data on the effectiveness of training were collected to measure participants' speed and accuracy in performing various MR activities. Six weeks later, a large class format (LCF) session was …

Can Low Vitamin D Binding Protein Levels Be A Cause Of Infertility In Females?, Bisma Badr, Sadia Cassim, Rehana Rehman

Department of Biological & Biomedical Sciences

Abstract are not provided by the author/publisher

Longer Trinucleotide Repeats Of Androgen Receptor Gene: Infertility In Males, Mussarat Ashraf, Hemaila Tariq, Rehana Rehman

Department of Biological & Biomedical Sciences

No abstract provided.

Relationship Of Sociodemographic Factors With Serum Levels Of Vitamin D In A Healthy Population Of Pakistan, Khalida Iqbal, Najmul Islam, Naseema Mehboobali, Ali Asghar, Saleem Perwaiz Iqbal, Mohammad Perwaiz Iqbal

Department of Biological & Biomedical Sciences

High prevalence of vitamin D deficiency has been reported from Pakistan. Association of sociodemographic factors with vitamin D status has received little attention in this region. Therefore, we embarked on investigating the relationship of sociodemographic factors with vitamin D levels in a healthy Pakistani population. Venous blood from 226 healthy participants (age range 19-69 years) was collected and analyzed for serum concentrations of 25(OH) vitamin D [25(OH)D] and other related biomarkers. Demographic characteristics of the study participants were collected. Vitamin D deficiency (25(OH)D levels less than 20 ng/ml) was found to be 75% in this cohort. Gender, sunlight exposure and …

Fatal Elizabethkingia Meningoseptica Cholangitis Following Biliary Stent Placement, Khalid Ahmed, Syeda Atia Qudsia, Abdul Rehman, Syed Hani Abidi

Department of Biological & Biomedical Sciences

Elizabethkingia (E.) meningosepticais a ubiquitous gram-negative bacillus belonging to the genus Chryseobacteriumand has been reported to cause nosocomial infections in both the immunocompromised and immunocompetent patients. E. meningoseptica can colonize the biliary tree after endoscopic procedures; and cholangitis, caused by this organism, is associated with a favorable prognosis. Here, we report a fatal case of cholangitis secondary to E. meningoseptica that developed following biliary stent placement. This case suggests that E. meningoseptica can be a cause of potentially fatal biliary tract infections in patients who undergo biliary tract endoscopic procedures. Clinicians must not disregard this organism as a contaminant (or …

Studies On Antihyperlipidemic And Endothelium Modulatory Activities Of Polyherbal Formulation (Pol4) And Its Ingredients In High Fat Diet-Fed Rats, Abdul Malik, Malik H Mehmood, Muhammad S Akhtar, Anwar Gilani

Department of Biological & Biomedical Sciences

A compound herbal formulation (POL4) is used traditionally in interior parts (Distt. Badin) of Sindh, Pakistan, for the treatment of metabolic disorders like diabetes and hyperlipidemia. This study is aimed to determine the effectiveness of POL4 and its ingredients in hyperlipidemia and associated endothelial dysfunction and hypertension. POL4 is composed of equal proportion of Nigella sativa, Cichorium intybus, Trigonella foenum graecum and Gymnema sylvestre mixed in powdered form. Chronic (6 to 7 weeks) administration of POL4 and its ingredients mixed in diet caused a notable attenuation in total cholesterol, low density lipoprotein cholesterol, triglycerides, atherogenic index, C-reactive protein and glucose, …

Almond Supplementation Reduces Serum Uric Acid In Coronary Artery Disease Patients: A Randomized Controlled Trial., Humaira Jamshed, Anwar Gilani, Fateh Ali Tipoo Sultan, Faridah Amin, Jamshed Arslan Arslan, Sumaira Ghani, Madiha Masroor

Department of Biological & Biomedical Sciences

Objective

Elevated serum uric acid (UA), a biomarker of renal insufficiency, is also an independent prognostic marker for morbidity in coronary artery disease (CAD) and poses serious health risks. This study reports the effect of almond consumption on UA in CAD patients.

Study design

A randomized controlled clinical trial was conducted with three groups: no-intervention (NI), Pakistani almonds (PA) or American almonds (AA). Patients were recruited from the Cardiology Clinics, Aga Khan University Hospital. Two follow-ups were scheduled at week-6 and week-12. 150 patients were randomly divided in three groups (50 per group). NI was not given almonds, whereas the …

Antidiarrheal And Antispasmodic Activities Of Polygonum Bistorta Rhizomes Are Mediated Predominantly Through K+ Channels Activation, Muhammad Zeeshan Ali, Khalid Hussain Janbaz, Hassan Mehmood, Anwar Hassan Gilani

Department of Biological & Biomedical Sciences

Polygonum bistorta is a popular medicinal herb used to treat diarrhea. This study provides pharmacological basis to its folk use in diarrhea using in vivo and in vitro assays. Administration of P. bistorta rhizomes extract to mice offered protection against castor oil-induced diarrhea at 300-1,000 mg/kg and was found safe up to the dose of 5 g/kg. In isolated rabbit jejunum, the extract caused a dose-dependent relaxation of spontaneous and low K⁺ (25 mM)-induced contractions with weak effect against high K⁺ (80 mM). In tissues pretreated with glibenclamide or tetraethylammonium chloride (TEA), the relaxant effect of the extract …

Antidiarrhoeal, Antisecretory And Antispasmodic Activities Of Matricaria Chamomilla Are Mediated Predominantly Through K+-Channels Activation, Hassan Mehmood, Siraj Munir, Uzair Ali Khalid, Mudassir Asrar, Anwarul Hassan Gilani

Department of Biological & Biomedical Sciences

Background: Matricaria chamomilla commonly known as “Chamomile” (Asteraceae) is a popular medicinal herb widely used in indigenous system of medicine for a variety of ailments. However, there is no detailed study available showing its effectiveness in hyperactive gut disorders like, abdominal colic and diarrhoea. This study was designed to determine the pharmacological basis for the folkloric use of Matricaria chamomilla in diarrhoea.
Methods: The crude aqueous-methanolic extract of Matricaria chamomilla (Mc.Cr) was studied for its protective effect in mice against castor oil-induced diarrhoea and intestinal fluid accumulation. The isolated rabbit jejunum was selected for the in-vitro experiments using tissue bath …

Antidiarrheal And Antispasmodic Activities Of Adiantum Capillus-Veneris Are Predominantly Mediated Through Atp-Dependent K+ Channels Activation, Khalid Hussain Janbaz, Waseem Hassan, Hassan Mehmood, Anwar Hassan Gilani

Department of Biological & Biomedical Sciences

The study was tempted to explore the scientific basis for the medicinal use of Adiantum capillus-veneris L. in diarrhea using the in vivo and in vitro assays. The crude extract of dried leaves of A. capillus-veneris exhibited antidiarrheal effect against castor oil-induced diarrhea in mice at 300 and 500 mg/kg, similar to the effect loperamide. It was also found safe up to administered dose of 7 g/kg in mice. In isolated rabbit jejunum, extract of A. capillus-veneris showed a concentration-dependent relaxation of spontaneous and low K⁺ (25 mM)-induced contractions and had weak inhibitory effect on high K⁺ (80 …

Body Mass Index Or Body Fat! Which Is A Better Obesity Scale For Pakistani Population?, Syeda Sadia Fatima, Rehana Rehman, Bushra Chaudhry

Department of Biological & Biomedical Sciences

Ojective: To compare two methods of classifying obesity based on body mass index and body fat percentage.
Methods: The cross-sectional study was conducted from November 2012 to August 2013 at Jinnah Postgraduate Medical Centre, Karachi. Male and female volunteers between the ages 15-65 years were selected using simple random sampling. They were classified into different groups for body mass index and body fat percentage measured through bioelectrical impedance scale. The subjects were sub-grouped into underweight, normal weight, overweight and obese. SPSS 11 was used for statistical analysis.
Results: The mean age of the 828 healthy volunteers was 25.67±10.10 years. A …

Pharmacological Basis For The Medicinal Use Of Rhus Coriaria In Hyperactive Gut Disorders, Khalid Hussain Janbaz, Arham Shabbir, Hassan Mehmood, Anwarul Hassan Gilani

Department of Biological & Biomedical Sciences

This study was aimed at providing the pharmacological basis for the medicinal use of Rhus coriaria in diarrhea. In mice, the crude of R. coriaria demonstrated antisecretory and antidiarrheal effects against castor oil-induced fluid accumulation and diarrhea at at 100 and 300 mg/kg, respectively, and was found safe up to tested dose of 5 g/kg. In isolated rabbit jejunum, R. coriaria exhibited concentration-dependent (0.01-3.0 mg/mL) relaxation of spontaneous and high K⁺ (80 mM)-induced contractions, similar to verapamil. The Ca⁺⁺ antagonist activity was confirmed when pretreatment of R. coriaria shifted Ca⁺⁺ concentration-response curves to the right with suppression …

Studies On Tracheorelaxant And Anti-Inflammatory Activities Of Rhizomes Of Polygonatum Verticillatum, Haroon Khan, Muhammad Saeed, Hassan Mehmood, Najeeb-Ur Rehman, Naveed Muhammad, Ikram-Ul Haq, Nadeem Ashraf, Kamal Eldin H El-Tahir, Anwar Gilani

Department of Biological & Biomedical Sciences

Background: The present study describes the tracheorelaxant and anti-inflammatory effects of Polygonatum verticillatum which may support its medicinal use in hyperactive airway complaints and inflammatory disorders.
Methods: The tracheorelaxant activity of crude extract of the rhizomes of P. verticillatum (PR) was assessed in isolated guinea-pig tracheal tissues immersed in tissue organ bath filled with Tyrode's solution and a continuous supply of carbogen gas (95% O2 and 5% CO2). The contractile and relaxant responses of the tissue were measured using isometric transducers coupled with Power-Lab data acquisition system. The anti-inflammatory effect was evaluated in carrageenan-induced rat paw edema model, while the …

Fiber-Free White Flour With Fructose Offers A Better Model Of Metabolic Syndrome, Faridah Amin, Anwar Hassan Gilani

Department of Biological & Biomedical Sciences

BACKGROUND: The metabolic syndrome (MS) is a combination of metabolic abnormalities that lead to an increased risk of cardiovascular diseases. Due to its rising incidence and demanding life-long use of multiple drugs, there is a growing interest in testing and developing new allopathic, complementary and alternative therapies for controlling or curing disorders of MS. The discovery of new therapeutic modalities requires animal models of disease and currently available models have limitations. Developing an appropriate animal model for MS to achieve various therapeutic targets remains a challenge and this study aims to develop a rat model which closely depicts MS in …

Studies On Bronchodilator And Cardiac Stimulant Activities Of Urginea Indica, Samra Bashir, Saima Abbas, Aslam Khan, Anwar H. Gilani

Department of Biological & Biomedical Sciences

This study was designed to evaluate bronchodilator and cardio-tonic effects of Urginea indica to provide rational for these medicinal uses. U. indica bulb extract was studied on rabbit tracheal and guinea-pig atrial preparations mounted in tissue baths under simulated physiological conditions. U. indica inhibited carbachol (1 µM) and K⁺ (80 mM)-induced contractions in rabbit trachea, similar to dicyclomine, suggesting the presence of anticholinergic and calcium channel blocking (CCB) mechanisms in U. indica. Anticholinergic and CCB effects of U. indica were respectively confirmed when it shifted the carbachol and Ca²⁺ concentration-response curves rightwards, similar to dicyclomine. U. indica (0.01-1 …

Over Prescription Of Antibiotics For Adult Pharyngitis Is Prevalent In Developing Countries But Can Be Reduced Using Mcisaac Modification Of Centor Scores: A Cross-Sectional Study., Amber Hanif Palla, Rafeeq Alam Khan, Anwar H. Gilani, Fawziah Marra

Department of Biological & Biomedical Sciences

Background

Although Group A beta hemolytic streptococcus (GABHS) can cause bacterial pharyngitis, the most common etiology is viral; despite this viral etiology, antibiotics are commonly prescribed for this infection in industrialized countries. We investigated the prevalence of GABHS in adult pharyngitis patients from lower socioeconomic settings in Karachi, Pakistan, how often antibiotics are prescribed for pharyngitis and if appropriate agents were used in a developing world setting. Finally, we wanted to see the usefulness of modified McIsaac scores in predicting positive cultures.

Methods

Adult patients were recruited from three local hospital outpatient dispensaries (OPDs). All patients aged 14–65 years who …

Antioxidant, Antimicrobial Properties And Phenolics Of Different Solvent Extracts From Bark, Leaves And Seeds Of Pongamia Pinnata (L.) Pierre, Zahid Iqbal Sajid, Farooq Anwar, Ghulam Shabir, Ghulam Rasul, Khalid M. Alkharfy, Anwarul Hassan Gilani

Department of Biological & Biomedical Sciences

This study appraises the antioxidant and antimicrobial attributes of various solvent extracts (absolute methanol, aqueous methanol, absolute ethanol, aqueous ethanol, absolute acetone, aqueous acetone, and deionized water) from bark, leaves and seeds of Pongamia pinnata (L.) Pierre. Maximum extraction yield of antioxidant components from bark (16.31%), leaves (11.42%) and seeds (21.51%) of P. pinnata was obtained using aqueous methanol (20:80). Of the extracts tested, the bark extract, obtained with aqueous methanol, exhibited greater levels of total phenolics [6.94 g GAE/100 g dry weight (DW)], total flavonoids (3.44 g CE/100 g DW), inhibition of linoleic acid peroxidation (69.23%) and DPPH radical …

Evaluation Of Gut Modulatory And Bronchodilator Activities Of Amaranthus Spinosus Linn, Mueen Ahmad Chaudhary, Imran Imran, Samra Bashir, Hassan Mehmood, Najeeb-Ur Rehman, Anwarul-Hassan Gilani

Department of Biological & Biomedical Sciences

Background: The aqueous-methanolic extract of Amaranthus spinosus (A. spinosus Linn.,) whole plant, was studied for its laxative, spasmolytic and bronchodilator activities to validate some of its medicinal uses.
Methods: The crude extract of A. spinosus was studied in-vivo for bronchodilator and laxative activities and in-vitro using isolated tissue preparations which were mounted in tissue baths assembly containing physiological salt solutions, maintained at 37°C and aerated with carbogen, to assess the spasmolytic effect and to find out the possible underlying mechanisms.
Results: In the in-vivo experiments in mice, the administration of A. spinosus increased fecal output at doses of 100 …

Anti-Inflammatory, Free Radical Scavenging And Calcium Antagonist Activities Of Corchorus Fascicularis Lam. Crude Extract, K . H . Janbaz, U . Zia, Hassan Mehmood, S . Bashir, M . I . Choudhary, A . H . Gilani

Department of Biological & Biomedical Sciences

No abstract provided.

Ethnopharmacological Studies On Chrozophora Prostrata In Perspective Of Its Folkloric Reputation As Purgative, Usman Arshad, Khalid Hussain Janbaz, Samra Bashir, Najeeb-Ur- Rehman, Hassan Mehmood, Anwar-Ul-Hassan Gilani

Department of Biological & Biomedical Sciences

This study was undertaken to validate the medicinal use of Chrozophora prostrata in constipation. The crude extract of C prostrata produced laxative effect in mice at 100 and 300 mg/kg, similar to carbachol and castor oil. In spontaneously contracting rabbit jejunum tissues, C. prostrata (0.01-3 mg/mL) exhibited atropine-sensitive spasmogenic effect, which was reproducible in guinea-pig ileum. Interestingly, at high concentrations, C. prostrata showed concentration-dependent inhibitory effect on rabbit jejunum, suggesting the presence of accompanied spasmolytic activity. When tested on induced contractions, C. prostrata completely relaxed low K+-induced contraction, while partially inhibited high K+, similar to cromakalim. Tetraethylammonium pretreatment abolished the …

Antispasmodic, Bronchodilator And Blood Pressure Lowering Properties Of Hypericum Oblongifolium - Possible Mechanism Of Action, Arif-Ullah Khan, Munasib Khan, Fazal Subhan, Anwar Gilani

Department of Biological & Biomedical Sciences

The crude extract of Hypericum oblongifolium (Ho.Cr), which tested positive for flavonoids, saponins and tannins caused concentration-dependent (0.1-1.0 mg/mL) relaxation of spontaneous and high K(+) (80 mM)-induced contractions in isolated rabbit jejunum preparations, suggesting a Ca(++) antagonistic effect, which was confirmed when pretreatment of the tissue with Ho.Cr produced a rightward shift in the Ca(++) concentration-response curves, like that caused by verapamil. Ho.Cr relaxed carbachol (1 mu M) and high K(+)-induced contractions in guinea pig tracheal preparations. It caused a dose-dependent (3-100 mg/kg) fall in arterial blood pressure of rats under anesthesia. In isolated guinea pig atria, Ho.Cr caused inhibition …

Genetic Variations In A Well Conserved 5-Untranslated Region Of Hepatitis C Virus Genome Isolated In Pakistan, Anila Yasmeen, Anwar Ali Siddiqui, Saeed Hamidb, Taranum Sultana, Wasim Jafri, Mats A.A. Perssonc

Department of Biological & Biomedical Sciences

The diversity and extent of sequence variations between hepatitis C virus (HCV) isolates from Pakistan were studied and the probable effects of these variations were assessed on secondary viral structures. Sequencing and phylogenetic analysis was performed on 33 samples, of which 25 were typed as genotype 3 by RFLP (restriction fragment length polymorphism) and 8 remained unresolved. Rooted neighbour-joining (NJ) tree revealed that 28 isolates were HCV type 3a and 5 isolates were typed as 3b. The majority of unresolved samples clustered in a different branch of genotype 3, supported by a bootstrap value of 71%. Another, cluster, cluster I, …

Hepatitis B Virus Subgenotypes D1 And D3 Are Prevalent In Pakistan, Anwar Ali Siddiqui, Saeeda Baig, Runu Chakravarty Runu Chakravarty, Tariq Moatter

Department of Biological & Biomedical Sciences

Background:

As the hepatitis B genotyping is important for assessing its clinical implications and geographical distribution, the sub-genotypes have been found useful for determination of specific genomic markers related to hepatocarcinogenesis. In Pakistan, there is no reported data on molecular evolutionary analysis of HBV. A study was, therefore, much needed to evaluate the spectra of mutations present in the strains prevalent here.

Findings:

To confirm specificity of PCR typing, phylogenetic analysis of the pre-S1 region and the divergence was studied through 13 sequences of 362 bp (accession number EF432765 – EF432777). A total of 315 serum samples, selected from HBsAg …

N-Acetyl-B-D-Glucosaminidase And Inflammatory Response After Cardiopulmonary Bypass, Perwaiz Iqbal, Hasanat M Sharif, Naseema Mehboobali, Farzana A Yousuf, Abrar H Khan, Frank W Sellke

Department of Biological & Biomedical Sciences

OBJECTIVE: To determine the changes in activity of plasma N-acetyl-beta-D-glucosaminidase, a marker for inflammation as well as renal, pulmonary and cardiac damage and proinflammatory cytokines in patients undergoing coronary artery bypass grafting and find out the relationship between their plasma levels with clinical outcome of patients.

STUDY DESIGN: Cross-sectional study.

PLACE AND DURATION OF STUDY: The Aga Khan University, Karachi, from January to June 2003.

PATIENTS AND METHODS: N-acetyl-beta-D-glucosaminidase (NAG) activity and concentrations of tumor necrosis factor-alpha of (TNFalpha), interleukin 6 (IL-6), interleukin 8 (IL8) and granulocyte-macrophage colony stimulating factor (GM-CSF) were monitored in plasma samples of 12 angina patients …

Latent Activity Of Curcumin Against Leishmaniasis In Vitro, Danish Saleheen, Syed Atif Ali, Khalid Ashfaq, Anwar Ali Siddiqui, Ajmal Agha, Muhammad Masoom Yasinzai

Department of Biological & Biomedical Sciences

In this study the anti-proliferative effect of curcumin (curcuma longa) that is the active ingredient of ground dried rhizome has been studied against three local and three reference leishmanial strains, Leishmania major, Leishmania tropica and Leishmania infantum (Pakistani isolate). Curcumin has shown an average IC50 of 5.3mM against promastigotes of various leishmanial strains which is much lower as compared with pentamidine that is one of the basic treatments against leishmaniasis. The main draw back attributed to these assays performed on promastigotes is the heterogeneity of results compared with those obtained with intracellular amastigotes or with in vivo effect. We also …

Determination Of Alpha-I Antitrypsin Genetic Deficiency In Duodenal Ulcer By Polymerase Chain Reaction, A Shahid, H Qureshi, S J. Zuberi, Anwar Ali Siddiqui, T Sultana, M A. Waqar

Department of Biological & Biomedical Sciences

Objective: To confirm alpha-I-AT deficiency status in duodenal ulcer using a combination of PCR and restricted enzyme digestion.

Methods: Fifty patients with endoscopically proven duodenal ulcer and hundred controls with no signs of the disease were included. Alpha-i-AT phenotypes were confirmed by polymerase chain reaction followed by restriction enzyme digestion.

Results:Alpha-I-AT concentration in duodenal ulcer patients showed a mean value of 2.12 ± 0.11g/1 (range: 0.52-3.95 g/1, p

Conclusion: Alpha-1 AT deficiency was found in 10% of duodenal ulcer patients. DNA analysis more accurately resolved the phenotypes as S and Z mutations (JPMA 52:545; 2002).

Low Serum Alpha 1 Antitrypsin In Duodenal Ulcer--A Family Study, Anjum Shahid, Sarwar J, Zuberi Mohammad A, Waqar,Huma Qureshi Waqar,Huma Qureshi Waqar,Huma Qureshi, Anwar Ali Siddiqui, Taranum Sultana

Department of Biological & Biomedical Sciences

No abstract provided.