Medicine and Health Sciences Commons^™

Epilepsy, Hippocampal Sclerosis And Febrile Seizures Linked By Common Genetic Variation Around Scn1a., Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Anna Tostevin, Bárbara Leal, Ellen V S Hessel, Kerstin Hallmann, Michael S Hildebrand, Hans-Henrik M Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P Doherty, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J Steinhoff, Dominik Zumsteg, Susan Duncan, Reetta K Kälviäinen, Kai J Eriksson, Anne-Mari Kantanen, Massimo Pandolfo, Ursula Gruber-Sedlmayr, Kurt Schlachter, Eva M Reinthaler, Elisabeth Stogmann, Fritz Zimprich, Emilie Théâtre, Colin Smith, Terence J O'Brien, K Meng Tan, Slave Petrovski, Angela Robbiano, Roberta Paravidino, Federico Zara, Pasquale Striano, Michael R Sperling, Russell J Buono, Hakon Hakonarson, João Chaves, Paulo P Costa, Berta M Silva, António M Da Silva, Pierre N E De Graan, Bobby P C Koeleman, Albert Becker, Susanne Schoch, Marec Von Lehe, Philipp S Reif, Felix Rosenow, Felicitas Becker, Yvonne Weber, Holger Lerche, Karl Rössler, Michael Buchfelder, Hajo M Hamer, Katja Kobow, Roland Coras, Ingmar Blumcke, Ingrid E Scheffer, Samuel F Berkovic, Michael E. Weale, Uk Brain Expression Consortium, Norman Delanty, Chantal Depondt, Gianpiero L Cavalleri, Wolfram S Kunz, Sanjay M Sisodiya

Russell Buono

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association …

Niemann-Pick Type C Disease, Sameh Morkous Md, Faan

Sameh Morkous, MD, FAAP, FAAN

No abstract provided.

Sensitivity Of The Human Circadian System To Short Wavelength (420 Nm) Light, George C. Brainard, David Silney, John P. Hanifin, Gena Glickman, Brenda Byrne, Jeffrey M. Greeson, Samar Jasser, Edward Gerner, Mark D. Rollag

Jeffrey M. Greeson

The circadian and neurobehavioral effects of light are primarily mediated by a retinal ganglion cell photoreceptor in the mammalian eye containing the photopigment, melanopsin. Nine action spectrum studies using rodents, monkeys, and human for these responses indicate peak sensitivities in the blue region of the visible spectrum ranging from 459 nm to 484 nm, with some disagreement in short wavelength sensitivity of the spectrum. The aim of this work was to quantify the sensitivity of human volunteers to monochromatic 420 nm light for plasma melatonin suppression. Adult female (N=14) and male (N=12) subjects participated in two studies, each employing a …

Quality Of Life After Stroke In Pakistan, Wardah Khalid, Shafquat Rozi, Tazeen S. Ali, Iqbal Azam Syed, Michael Mullen, Saleem Illyas, Qamarunnisa, Nabila Soomro, Ayeesha Kamran Kamal

Tazeen Ali

Background: There is very little information about the quality of life (QOL) of stroke survivors in LMIC countries with underdeveloped non communicable health infrastructures, who bear two thirds of the global stroke burden. Methodology: We used a sequential mix methods approach. First, a quantitative analytical cross-sectional study was conducted on 700 participants, who constituted 350 stroke survivor and their caregiver dyads. QOL of stroke survivor was assessed via Stroke Specific Quality of Life Scale (SSQOLS) whereas QOL of caregivers was assessed through RAND-36. In addition; we assessed complications, psychosocial and functional disability of stroke survivors. Following this quantitative survey, caregivers …

Quality Of Life Of Stroke Survivors And Their Primary Caregivers In Pakistan., Wardah Khalid, Shafquat Rozi, Tazeen S. Ali, Iqbal Azam Syed, Michael T. Mullen

Tazeen Ali

No abstract provided.

Ct Scanning Is Sufficient To Clear The Cervical Spine Of Elderly Falls Less Than 5 Feet., Douglas Lehman Md, Rovinder S. Sandhu Md, Leslie Baga Bsn, Farheen Hussain Ms, John J. Hong Md

John J. Hong, M.D.

No abstract provided.

Essential Medicines Management During Emergencies In Pakistan, S.K.S. Bukhari, J.A.R.H. Qureshi,, Rashid Jooma, K.M. Bile Ministry Of Health, Islamabad, Pakistan.

Rashid Jooma

ABSTRACT This paper illustrates the experiences of essential medicine management in providing cure and care to victims of Pakistan’s 2005 earthquake in a safe, rational and effective mode. The health interventions assured access to essential medicine, sustained supply, inventory control through a computerized logistic support system and rational use of medicines. World Health Organization Pakistan outlined modalities for acceptance of donated medicines, assisted in speedy procurement of medicines and designed customized kits. Proper storage of medicines at controlled temperature was ensured in warehousing facilities in 12 locations. A steady supply of medicines and their consumption without stock-outs in the 56 …

Impacts Of Signal Free Corridors On The Incidence Of Road Traffic Accidents In Karachi, Salman Zubair, Jamil H. Kazmi, Rashid Jooma, Syed Shahid Ali, Zeeshan Akhtar

Rashid Jooma

Abstract: Increase in road Traffic Accidents is a global phenomenon and Pakistan is no exception. In Karachi, this problem becomes severe due to rapid growth of population. This menace is ruining the lives of thousands of people and making Karachi a worrisome place to live. Recent road geometrical transitions in the city with insufficient accessories have been reducing the problem of traffic congestion to a limited extent. On the contrary, this has erupted as a problem of Road Traffic Accidents which is reaching out of proportions. Recently, induction of a unique feature named, Signal Free Corridor in Karachi has cost …

Embolization Of An Intracranial Arteriovenous Malformation Followed By Immediate Surgical Resection : A Case Report, Imaad Ur Rehman, Tanveer Ul Haq, Rashid Jooma, Muhammad Azeemuddin, Zafar Sajjad

Rashid Jooma

Intracranial arteriovenous malformations (AVMs) are now a recognized entity because of improvements in imaging diagnosis. They are relatively uncommon but can cause serious neurological symptoms or death. We report a case of a 22- year-old man who presented with left parietal hemorrhage and on cerebral angiography was found to have a small AVM in the left middle cerebral artery (MCA) territory. Glue embolization followed by immediate surgical resection of the AVM was carried out, resulting in complete cure.

Effectiveness Of Helmets In Preventing Severe Injuries In A Setting With Poorly Enforced Quality Standards, Junaid A. Bhatti, Rashid Jooma, Junaid A. Razzak

Rashid Jooma

Helmets save lives, yet many countries do not have laws about their quality assessment or how they should be worn. We assessed the effectiveness of helmet use in preventing injuries in such a setting. The data were extracted from a large road traffic injury surveillance study in Karachi, Pakistan. We assessed the association of wearing helmets with several injury outcomes including deaths, injury severity (via New Injury Severity Score, NISS ≥ 9) and moderate or severe injury (via Abbreviated Injury Score, AIS ≥ 2) to head, face, or other regions of the body. The data about helmet use was available …

Designing The First Ever Health Insurance For The Poor In Pakistan–A Pilot Project, Rashid Jooma, Sabeena Jalal

Rashid Jooma

Abstract Several developing countries lack a medical insurance system with universal coverage, so access to medical services is not easy, principally for people living in poverty. One of the biggest issues for designing healthcare systems in developing countries is how to include those not formally employed. Therefore, it is important to implement targeted interventions so that the most in need are not left out. The World Health Report 2000 distinguishes four functions for the health system to fulfill: (i) the provision of health services; (ii) the creation of the necessary investment and training resources for health; (iii) health financing; and …

Cost-Effective Practice Of Neurology: An Idea Whose Time Has Come, Rashid Jooma

Rashid Jooma

Pakistanis spent $ 7.2 billion on healthcare in 2013 (3.1% of our Gross Domestic Product), representing a per capita expenditure of $ 39.4. The government contribution to this was no more than 31.4% ($ 12.4 per capita). The public allocations to health thus represent a paltry 4.7% of total government expenditure and are just shy of 1% of our GDP.

Comparison Of Two Surveys Of Head Injured Patients Presenting During A Calendar Year To An Urban Medical Centre 32 Years., Rashid Jooma, Shahid Ahmed, Abdul Malik Zarden

Rashid Jooma

Abstract OBJECTIVE: To study the patients presenting with head injuries to a tertiary hospital in Karachi during the year 2003. METHODS: During the calendar year 2003, a cross-sectional study was conducted of all patients presenting to the casualty department of Jinnah Postgraduate Medical Centre (JPMC) with head injury. Personal information was collected from the patient's attendants at presentation or later if the patient had been brought in by the emergency services as an unknown person. The circumstances of the injury were similarly established and the clinical features documented. RESULTS: During the year 2003, a total of 3008 patients reported to …

Association Of The 9p21.3 Locus With Risk Of First-Ever Myocardial Infarction In Pakistanis, Saleheen D, Myriam Alexander, Asif Rasheed, Rashid Jooma

Rashid Jooma

Abstract OBJECTIVE: To examine variants at the 9p21 locus in a case-control study of acute myocardial infarction (MI) in Pakistanis and to perform an updated meta-analysis of published studies in people of European ancestry. METHODS AND RESULTS: A total of 1851 patients with first-ever confirmed MI and 1903 controls were genotyped for 89 tagging single-nucleotide polymorphisms at locus 9p21, including the lead variant (rs1333049) identified by the Wellcome Trust Case Control Consortium. Minor allele frequencies and extent of linkage disequilibrium observed in Pakistanis were broadly similar to those seen in Europeans. In the Pakistani study, 6 variants were associated with …

Why We Must Provide Better Support For Pakistan's Female Frontline Health Workers, Svea Closser, Rashid Jooma

Rashid Jooma

Abstract Svea Closser and Rashid Jooma argue that achieving polio eradication and strengthening Pakistan's health system must focus not just on international engagement but also on local partnerships with Lady Health Workers and other ground-level staff. Please see later in the article for the Editors' Summary.

Vocal Fold Granuloma After Prolonged Neurosurgical Procedure With Wire Reinforced Endotracheal Tube, Rashid Jooma

Rashid Jooma

No abstract provided.

Viewpoint Related To The Report Contraception, Synergies And Options, Rashid Jooma, Adnan A . Khan

Rashid Jooma

No abstract provided.

Vulnerable Road Users Are At Greater Risk During Ramadan -- Results From Road Traffic Surveillance Data., Amber Mehmood, Anoosh Moin, Irum Qamar Khan, Mohammad Umer Mir, Rashid Jooma

Rashid Jooma

Abstract

OBJECTIVE:

To assess how the frequency, nature and outcome of road traffic crashes differ during the fasting month of Ramadan.

METHODS:

The retrospective study was conducted in Karachi and comprised data from the Road Traffic Injury Surveillance Project which entailed information on all road traffic injury victims presenting to Emergency Departments in the city between September 2006 and September 2011. Data was analysed to find the frequency of road traffic crashes according to time of incident, road user group and survival. Ramadan and Non-Ramadan groups were compared with respect to time and frequency of incidents, road user group and …

Towards A Cure For Traumatic Paraplegia - Is There Cause For Hope?, Rashid Jooma

Rashid Jooma

In the past decade, great strides have been made in the field of CNS tissue repair and expectations have been raised that a cure of spinal paralysis is at hand. The two broad categories of investigational approaches to spinal regeneration are: (1) Enhancing the Regenerative Milieu of the Cord and (2) Cellular and Tissue Transplantation. Amongst the latter approaches, the early use of foetal cord tissue has given way to the more sophisticated studies on stem cell therapy and the implants of olfactory ensheating cells. These have engendered considerable public interest and are being offered as commercially available therapies in …

Trans-Mastoid Approach To Otogenic Brain Abscess, Ashfaq A. Razzaq, Rashid Jooma, Shahid Ahmed

Rashid Jooma

The treatment of otogenic brain abscess initially involves excision or aspiration of the abscess through a temporal or sub-occipital route depending on its location. This is followed by a mastoidectomy by the ENT surgeon to eradicate the primary source of infection. During the last three years, we have approached such lesions through a mastoidectomy followed by excision of the abscess through the same approach. This trans-mastoid approach is technically feasible in following the tract of suppuration, and clearing the cause and effect of pathology, at the same sitting. This paper describes our initial experience with the trans-mastoid approach to otogenic …

Surgery For Prolactinomas, Ashfaq A. Razzaq, Rashid Jooma

Rashid Jooma

A large proportion of prolactin secreting tumours of the pituitary gland are treatable by dopamine agonist drugs. However certain subgroups of these patients are better managed by surgical excision. The indications for surgery in prolactinomas remain controversial and this paper attempts to clarify these with illustrative cases. The factors favouring a surgical approach include poor tolerance of long term medical therapy, progression of visual deficits or recurrence while on medical treatment, cystic change in the tumour with pressure effects, CSF fistula secondary to tumour shrinkage and prophylactic surgery in tumours anticipated to cause CSF leak following medical therapy. The size …

The Trauma Centre: What It Should Mean, Rashid Jooma, Sabeena Jalal Khan, J. Razzak

Rashid Jooma

No abstract provided.

Spinal Disease Presenting As Acute Abdominal Pain, Rashid Jooma, Mj Torrens

Rashid Jooma

SIR,-Mr Flood and others are correct in what they write, but their discussion of spinal infection covers only part of the clinical problem. They have assumed that "spinal infection" means osteomyelitis of the spine, whereas the commonest infective cause of paraplegia is extradural spinal abscess, as in the case we reported. In such patients there are usually no changes on the plain radio- graphs, no osteomyelitis, and the abscess is diffusely distributed through the epidural space. Laminectomy and drainage are the correct treatment for extradural spinal abscess

Save A Life- Diagnose Subarachnoid Haemorrhage, Rashid Jooma, Iqtidar H. Bhatti

Rashid Jooma

No abstract provided.

Prevalence Of Hepatitis B And C Viral Infections In Pakistan: Findings Of A National Survey Appealing For Effective Prevention And Control Measures, H Qureshi, K.M. Bile, Rashid Jooma, S.E Alam, H.U.R. Afrid

Rashid Jooma

Abstract A prevalence survey on hepatitis B and C infections was carried out to obtain national estimates and assess epidemiological dynamics and underlying risk factors. Overall prevalence of hepatitis B surface antigen (HBsAg) and anti-hepatitis C virus (HCV) of 2.5% and 4.8%, respectively, reflected a combined infection rate of 7.6% in the general population, consistent with an ongoing high burden of chronic liver disease (CLD). There was significant association of these viral infections with a range of risk factors led by reuse of syringes. These findings validate currently implemented strategies by the national programme for the control of hepatitis viralinfections, …

Proposals For A Scheme For Continuing Professional Development In Pakistan, S.K.S. Bukhari, J.A.R.H. Qureshi, Rashid Jooma, K.M. Bile, G.N. Kazi, W.A. Zaibi

Rashid Jooma

ABSTRACT This paper illustrates the experiences of essential medicine management in providing cure and care to victims of Pakistan’s 2005 earthquake in a safe, rational and effective mode. The health interventions assured access to essential medicine, sustained supply, inventory control through a computerized logistic support system and rational use of medicines. World Health Organization Pakistan outlined modalities for acceptance of donated medicines, assisted in speedy procurement of medicines and designed customized kits. Proper storage of medicines at controlled temperature was ensured in warehousing facilities in 12 locations. A steady supply of medicines and their consumption without stock-outs in the 56 …

Political Determinants Of Health: Lessons For Pakistan, Rashid Jooma, Guido Sabatinelli

Rashid Jooma

ABSTRACT There is much concern about the capacity of the health system of Pakistan to meet its goals and obligations. Historically, the political thrust has been absent from the health policy formulation and this is reflected in the low and stagnant public allocations to health. Successive political leaderships have averred from considering healthcare is a common good rather than a market commodity and health has not been recognized as a constitutional right. Over 120 of world’s nation states have accepted health as a constitutional right but the 1973 Constitution of Pakistan does not mandate health or education as a fundamental …

Protecting Pakistan's Health During The Global Economic Crisis, Rashid Jooma, A. Khan, Khan A. A.

Rashid Jooma

Abstract The world is facing an unprecedented global economic crisis, with many countries needing to reconsider their level of health care spending. This paper explores the many consequences of the global economic turndown on Pakistan's health, including reduced government and donor spending and increased poverty with the consequent diversion of funds away from health. Nevertheless, these challenges may provide opportunities not only to mitigate the adverse effects of the economic crisis but also to institute some much-needed reforms that may not receive political support during more affluent times. Our suggestions focus on setting priorities based on the national disease burden, …

Primary Spinal T-Cell Rich B-Cell Lymphoma: A Case Report, Suhail Muzaffar, Yousuf A. Husein, Rashid Jooma

Rashid Jooma

Non-Hodgkin’s lymphoma is a heterogenous group of lymphoid malignancies with marked vanabiity in morphologic features, growth pattern, antigemc phenotype and biological behaviout T- cell rich B-cell lymphoma (TCRBCL) is a newly recognised entity of this large heterogenous group of lymphoid neopiasms which closely mimics Hodgkin’s disease and peripheral T-cell lymphoma (PTCL). Most of the cases of TCRBCL have been reported in the lymph nodes, however, a small number of cases have been described in the extranodal sites including skin, soft tissue, common bile duct and central nervous system. Primary spinal TCRBCL with symptoms of spinal cordcompressionhasbeen described in the literature.

Preventing Neural Tube Defects By Folic Acid Fortification Of Flour, Rashid Jooma

Rashid Jooma

No abstract provided.