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Articles 5281 - 5310 of 5928

Full-Text Articles in Medical Specialties

Diffusion Weighted Mr Imaging Of The Brain: Review Of Clinical Applications, Muhammad Azeemuddin, Rohana Naqi, Mohammad Wasay Jul 2012

Diffusion Weighted Mr Imaging Of The Brain: Review Of Clinical Applications, Muhammad Azeemuddin, Rohana Naqi, Mohammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


B-Vitamin Deficiency In Patients Treated With Antiepileptic Drugs., Scott Mintzer, Christopher T Skidmore, Michael R Sperling Jul 2012

B-Vitamin Deficiency In Patients Treated With Antiepileptic Drugs., Scott Mintzer, Christopher T Skidmore, Michael R Sperling

Department of Neurology Faculty Papers

Enzyme-inducing antiepileptic drugs (AEDs) produce many alterations in metabolism, including vitamin levels. Whether they produce clinically relevant deficiency of B vitamins has rarely been assessed. We obtained B-vitamin levels in patients who were being converted from an inducing AED (phenytoin or carbamazepine) to a non-inducing AED (levetiracetam, lamotrigine, or topiramate), with measurements both before and ≥ 6 weeks after the switch. A group of normal subjects underwent the same studies. Neither folate nor B12 deficiency was seen in any patient. Vitamin B6 deficiency was found in 16/33 patients (48%) taking inducers, compared to 1/11 controls (9%; p=0.031). After switch to …


Melanotic Neuroectodermal Tumour Of Infancy: A Rare Brain Tumour Of Childhood, Muhammad Babar Khan, Delvene Soares, Muhammad Zubair Tahir, Rajesh Kumar, Khurram Minhas, Muhammad Ehsan Bari Jul 2012

Melanotic Neuroectodermal Tumour Of Infancy: A Rare Brain Tumour Of Childhood, Muhammad Babar Khan, Delvene Soares, Muhammad Zubair Tahir, Rajesh Kumar, Khurram Minhas, Muhammad Ehsan Bari

Medical College Documents

Melanotic neuroectodermal tumour of infancy is a rare, mostly benign but locally aggressive tumour of neural crest cell
origin occurring in infants. The most commonly affected anatomic site is the maxilla. Such tumours of the brain and skull are very rare. We present the case of an 8 months old baby girl whose presenting complaint was a swelling in the scalp for 6 months. She was otherwise asymptomatic. CT imaging confirmed the presence of an osteolytic tumour in the anterior parasagittal skull with dural involvement. The tumour was surgically excised enbloc. The patient has been well at 2 years follow-up …


Anatomical Relationships Of The Anterior Blood Vessels To The Lower Lumbar Intervertebral Discs: Analysis Based On Magnetic Resonance Imaging Of Patients In The Prone Position., Alexander R Vaccaro, Christopher K Kepler, Jeffrey A Rihn, Hidekazu Suzuki, John K Ratliff, James S Harrop, William B Morrison, Worawat Limthongkul, Todd J Albert Jun 2012

Anatomical Relationships Of The Anterior Blood Vessels To The Lower Lumbar Intervertebral Discs: Analysis Based On Magnetic Resonance Imaging Of Patients In The Prone Position., Alexander R Vaccaro, Christopher K Kepler, Jeffrey A Rihn, Hidekazu Suzuki, John K Ratliff, James S Harrop, William B Morrison, Worawat Limthongkul, Todd J Albert

Rothman Institute Papers

BACKGROUND: Intra-abdominal vascular injuries are rare during posterior lumbar spinal surgery, but they can result in major morbidity or mortality when they do occur. We are aware of no prior studies that have used prone patient positioning during magnetic resonance imaging for the purpose of characterizing the retroperitoneal iliac vasculature with respect to the intervertebral disc. The purpose of this study was to define the vascular anatomy adjacent to the lower lumbar spine with use of supine and prone magnetic resonance imaging.

METHODS: A prospective observational study included thirty patients without spinal abnormality who underwent supine and prone magnetic resonance …


Prospective Case Control Evaluation Of Epidural Midazolam For Improving Pain And Ambulation After Microdiscectomy, Muhammad Shahzad Shamim, S. Ather Enam, Muhammad Zubair Tahir, Mueenullah Khan Jun 2012

Prospective Case Control Evaluation Of Epidural Midazolam For Improving Pain And Ambulation After Microdiscectomy, Muhammad Shahzad Shamim, S. Ather Enam, Muhammad Zubair Tahir, Mueenullah Khan

Section of Neurosurgery

Objective: To evaluate midazolam as an epidural analgesic in patients undergoing single-level microdiscectomy.
Methods: This prospective case control study was carried out at the Aga Khan University Hospital, Karachi, from January 20 to September 20, 2007, on patients undergoing microdiscectomy. Cases (group A) received midazolam with saline, while controls (group B) received saline only, placed intra-operatively over involved nerve root. Post-operatively, patients were monitored for various variables. Data was analysed using SPSS 13.0 and groups were compared using student's t-test for continuous variables and chi square for categorical variables. P-value <0.05 was considered significant.
Results: Patients in group A ambulated earlier (p = 0.005) …


Gender Differences In Risk Factors, Mortality, And Length Of Stay Of Patients Discharged From A Pakistani Stroke Unit: A Comparative Cross-Sectional Study, Farzin Majeed, Bilal Ahmed, Maria Khan, Shaista Anwar Siddiqi, Ayeesha Kamran Kamal Jun 2012

Gender Differences In Risk Factors, Mortality, And Length Of Stay Of Patients Discharged From A Pakistani Stroke Unit: A Comparative Cross-Sectional Study, Farzin Majeed, Bilal Ahmed, Maria Khan, Shaista Anwar Siddiqi, Ayeesha Kamran Kamal

Department of Medicine

BACKGROUND: Differences between women and men in relation to stroke are increasingly being recognized. There is a scarcity of data on gender-based differences in stroke risk factors and outcomes from Pakistan.

METHODS: We enrolled 231 consecutive patients diagnosed with acute stroke. All patients received care along a standardized stroke pathway in a single stroke unit. We analyzed demographic and medical factors, NIHSS scores, and outcomes.

RESULTS: Of 213 consecutive hospitalized patients, 135 patients were men and 76 were women. The male to female ratio was 1.84. The mean age of males was 62.3913.56, as compared to females 61.15911.60 years. Hypertension, …


Hdl Cholesterol--How Do I Raise My Patients Good Cholesterol?, Quratulain Shaikh, Ayeesha Kamran Kamal Jun 2012

Hdl Cholesterol--How Do I Raise My Patients Good Cholesterol?, Quratulain Shaikh, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.


Nociceptive Neuropeptide Increases And Periorbital Allodynia In A Model Of Traumatic Brain Injury., Melanie B. Elliott, Michael L. Oshinsky, Peter S. Amenta, Olatilewa Awe, Jack I. Jallo Jun 2012

Nociceptive Neuropeptide Increases And Periorbital Allodynia In A Model Of Traumatic Brain Injury., Melanie B. Elliott, Michael L. Oshinsky, Peter S. Amenta, Olatilewa Awe, Jack I. Jallo

Department of Neurosurgery Faculty Papers

OBJECTIVE: This study tests the hypothesis that injury to the somatosensory cortex is associated with periorbital allodynia and increases in nociceptive neuropeptides in the brainstem in a mouse model of controlled cortical impact (CCI) injury.

METHODS: Male C57BL/6 mice received either CCI or craniotomy-only followed by weekly periorbital von Frey (mechanical) sensory testing for up to 28 days post-injury. Mice receiving an incision only and naïve mice were included as control groups. Changes in calcitonin gene-related peptide (CGRP) and substance P (SP) within the brainstem were determined using enzyme-linked immunosorbent assay and immunohistochemistry, respectively. Activation of ionized calcium-binding adaptor molecule-1-labeled …


Hdl Cholesterol--How Do I Raise My Patients Good Cholesterol?, Quratulain Shaikh, Ayeesha Kamran Kamal Jun 2012

Hdl Cholesterol--How Do I Raise My Patients Good Cholesterol?, Quratulain Shaikh, Ayeesha Kamran Kamal

Section of Neurology

No abstract provided.


Egr-1 Induces Darpp-32 Expression In Striatal Medium Spiny Neurons Via A Conserved Intragenic Element., Serene Keilani, Samira Chandwani, Georgia Dolios, Alexey Bogush, Heike Beck, Antonis K Hatzopoulos, Gadiparthi N Rao, Elizabeth A Thomas, Rong Wang, Michelle E Ehrlich May 2012

Egr-1 Induces Darpp-32 Expression In Striatal Medium Spiny Neurons Via A Conserved Intragenic Element., Serene Keilani, Samira Chandwani, Georgia Dolios, Alexey Bogush, Heike Beck, Antonis K Hatzopoulos, Gadiparthi N Rao, Elizabeth A Thomas, Rong Wang, Michelle E Ehrlich

Farber Institute for Neuroscience Faculty Papers

DARPP-32 (dopamine and adenosine 3', 5'-cyclic monophosphate cAMP-regulated phosphoprotein, 32 kDa) is a striatal-enriched protein that mediates signaling by dopamine and other first messengers in the medium spiny neurons. The transcriptional mechanisms that regulate striatal DARPP-32 expression remain enigmatic and are a subject of much interest in the efforts to induce a striatal phenotype in stem cells. We report the identification and characterization of a conserved region, also known as H10, in intron IV of the gene that codes for DARPP-32 (Ppp1r1b). This DNA sequence forms multiunit complexes with nuclear proteins from adult and embryonic striata of mice and rats. …


Phenytoin Versus Leviteracetam For Seizure Prophylaxis After Brain Injury - A Meta Analysis, Syed Nabeel Zafar, Abdul Ahad Khan, Asfar Ayaz Gauri, Muhammad Shahzad Shamim May 2012

Phenytoin Versus Leviteracetam For Seizure Prophylaxis After Brain Injury - A Meta Analysis, Syed Nabeel Zafar, Abdul Ahad Khan, Asfar Ayaz Gauri, Muhammad Shahzad Shamim

Section of Neurosurgery

Background: Current standard therapy for seizure prophylaxis in Neuro-surgical patients involves the use of Phenytoin (PHY). However, a new drug Levetiracetam (LEV) is emerging as an alternate treatment choice. We aimed to conduct a meta-analysis to compare these two drugs in patients with brain injury.
Methods: An electronic search was performed in using Pubmed, Embase, and CENTRAL. We included studies that compared the use of LEV vs. PHY for seizure prophylaxis for brain injured patients (Traumatic brain injury, intracranial hemorrhage, intracranial neoplasms, and craniotomy). Data of all eligible studies was extracted on to a standardized abstraction sheet. Data about baseline …


What Is The Role Of Free Radical Scavengers In Acute Stroke?, Muhammad Faisal Wadiwala, Ambreen Sonawalla, Ayeesha Kamran Kamal May 2012

What Is The Role Of Free Radical Scavengers In Acute Stroke?, Muhammad Faisal Wadiwala, Ambreen Sonawalla, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.


Exercise-Induced Neuroprotection In A Hemiparkinsonian 6-Hydroxydopamine Rat Model, Merrill Russen Landers May 2012

Exercise-Induced Neuroprotection In A Hemiparkinsonian 6-Hydroxydopamine Rat Model, Merrill Russen Landers

UNLV Theses, Dissertations, Professional Papers, and Capstones

Outside of finding a cure, one of the preeminent goals of research in Parkinson's disease (PD) is finding a neuroprotective treatment that when applied prior to the onset of the disease will decrease the risk and severity of the subsequent disease. One such treatment that has potential as a neuroprotective agent in PD is exercise. Several studies have found forced exercise to be protective of Parkinson's disease in adult rodent models; however, few of these studies have used a design wherein voluntary exercise was evaluated. Moreover, no study has used a true neuroprotective design in which exercise was applied prior …


Program Evaluation Of Stroke In Rural Nevada Hospital, Starla Cheri Ricks May 2012

Program Evaluation Of Stroke In Rural Nevada Hospital, Starla Cheri Ricks

UNLV Theses, Dissertations, Professional Papers, and Capstones

The overall goal of this Doctor of Nursing Practice (DNP) scholarly project is to complete a program evaluation using the Centers of Disease Control (CDC) Framework for Program Evaluation to measure the effectiveness of a stroke protocol in a rural Nevada hospital. This (DNP) scholarly project evaluates program strategies over third and fourth quarters of 2010 as well as the first, second, and third quarters of 2011, that have been initiated to reduce the burden of neurological disease with the application of a stroke protocol that complies with defined evidence-based strategies for assessment and management of stroke victims. As part …


Management Of Sexual Disorders In Spinal Cord Injured Patients., Vafa Rahimi-Movaghar, Alexander R Vaccaro May 2012

Management Of Sexual Disorders In Spinal Cord Injured Patients., Vafa Rahimi-Movaghar, Alexander R Vaccaro

Department of Neurosurgery Faculty Papers

Spinal cord injured (SCI) patients have sexual disorders including erectile dysfunction (ED), impotence, priapism, ejaculatory dysfunction and infertility. Treatments for erectile dysfunction include four steps. Step 1 involves smoking cessation, weight loss, and increasing physical activity. Step 2 is phosphodiesterase type 5 inhibitors (PDE5I) such as Sildenafil (Viagra), intracavernous injections of Papaverine or prostaglandins, and vacuum constriction devices. Step 3 is a penile prosthesis, and Step 4 is sacral neuromodulation (SNM). Priapism can be resolved spontaneously if there is no ischemia found on blood gas measurement or by Phenylephrine. For anejaculatory dysfunction, massage, vibrator, electrical stimulation and direct surgical biopsy …


Effects Of Hyperthermia On Photochemical Internalization-Mediated Delivery Of Bleomycin, Christina Schlazer May 2012

Effects Of Hyperthermia On Photochemical Internalization-Mediated Delivery Of Bleomycin, Christina Schlazer

UNLV Theses, Dissertations, Professional Papers, and Capstones

Standard treatment protocols for high-grade gliomas, such as glioblastoma multiforme (GBM), are highly ineffective due to their inability to eradicate infiltrating tumor cells. Improvements in overall survival are likely to be realized only with the development of more effective localized therapies capable of eradicating tumor cells in the surgical resection margin and beyond. Photochemical internalization (PCI) is a localized light-based therapeutic modality that enhances the efficacy of therapeutic macromolecules including chemotherapeutic agents such as bleomycin. A number of studies have shown that this photodynamic therapy (PDT) - based modality may prove effective in the treatment of high-grade gliomas.

Three-dimensional multicell …


What Is The Role Of Free Radical Scavengers In Acute Stroke?, Muhammad Faisal Wadiwala, Ambreen Sonawalla, Ayeesha Kamran Kamal May 2012

What Is The Role Of Free Radical Scavengers In Acute Stroke?, Muhammad Faisal Wadiwala, Ambreen Sonawalla, Ayeesha Kamran Kamal

Section of Neurology

No abstract provided.


Electrical & Magnetic Stimulation And Health, Yiyan Li Apr 2012

Electrical & Magnetic Stimulation And Health, Yiyan Li

College of Engineering: Graduate Celebration Programs

1, Introduction Most of the patients with neural diseases such as Parkinson’s disease, Stroke and Depression, cannot be cured by taking pills or conducting surgery. In contrast to the conventional therapies, physical therapies such as TMS (transcranial magnetic stimulation) (Fig. 1) and tDCS (transcranial direct current stimulation) (Fig. 2) are the most popular methods in treating neural disorders with a non-invasive way. TMS employs electromagnetic (1-3 Tesla) induction generates an Electric field suitable for neural stimulation; tDCS employs a weak current (1-2 mA) to modulate neuronal excitabilities.


Parkinson’S Disease: Molecular Mechanisms And Treatments, Delia Vahey Apr 2012

Parkinson’S Disease: Molecular Mechanisms And Treatments, Delia Vahey

Senior Honors Theses

Parkinson’s disease is a motor system disorder that is caused primarily by the loss of dopamine-producing brain cells. The most affected brain structure is the pars compacta of the substantia nigra. This area of the brain is essential to the control of voluntary movement, and so its impairment leads to symptoms such as tremors, rigidity, and impaired balance. The neuronal protein alpha-synuclein has been shown to be heavily involved in the pathogenesis of the disease at the cellular level. The currently available treatments for PD mainly target dopamine regulation, and there been no cure developed for the disease at present. …


Iron Accumulation In Deep Cortical Layers Accounts For Mri Signal Abnormalities In Als: Correlating 7 Tesla Mri And Pathology, Justin Y. Kwan, Suh Young Jeong, Peter Van Gelderen, Han-Xiang Deng, Martha M. Quezado, Laura E. Danielian, John Butman, Lingye Chen, Elham Bayat, James Russell, Teepu Siddique, Jeff H. Duyn, Tracey A. Rouault, Mary Kay Floeter Apr 2012

Iron Accumulation In Deep Cortical Layers Accounts For Mri Signal Abnormalities In Als: Correlating 7 Tesla Mri And Pathology, Justin Y. Kwan, Suh Young Jeong, Peter Van Gelderen, Han-Xiang Deng, Martha M. Quezado, Laura E. Danielian, John Butman, Lingye Chen, Elham Bayat, James Russell, Teepu Siddique, Jeff H. Duyn, Tracey A. Rouault, Mary Kay Floeter

Neurology Faculty Publications

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by cortical and spinal motor neuron dysfunction. Routine magnetic resonance imaging (MRI) studies have previously shown hypointense signal in the motor cortex on T2-weighted images in some ALS patients, however, the cause of this finding is unknown. To investigate the utility of this MR signal change as a marker of cortical motor neuron degeneration, signal abnormalities on 3T and 7T MR images of the brain were compared, and pathology was obtained in two ALS patients to determine the origin of the motor cortex hypointensity. Nineteen patients with clinically probable or …


Data Sharing In Neuroimaging Research, Jean-Baptiste Poline, Janis L. Breeze, Satrajit Ghosh, Krzysztof Gorgolewski, Yaroslav O. Halchenko Apr 2012

Data Sharing In Neuroimaging Research, Jean-Baptiste Poline, Janis L. Breeze, Satrajit Ghosh, Krzysztof Gorgolewski, Yaroslav O. Halchenko

Dartmouth Scholarship

Significant resources around the world have been invested in neuroimaging studies of brain function and disease. Easier access to this large body of work should have profound impact on research in cognitive neuroscience and psychiatry, leading to advances in the diagnosis and treatment of psychiatric and neurological disease. A trend toward increased sharing of neuroimaging data has emerged in recent years. Nevertheless, a number of barriers continue to impede momentum. Many researchers and institutions remain uncertain about how to share data or lack the tools and expertise to participate in data sharing. The use of electronic data capture (EDC) methods …


Rituximab Induces Sustained Reduction Of Pathogenic B Cells In Patients With Peripheral Nervous System Autoimmunity., Michael A Maurer, Goran Rakocevic, Carol S Leung, Isaak Quast, Martin Lukačišin, Norbert Goebels, Christian Münz, Hedda Wardemann, Marinos Dalakas, Jan D Lünemann Apr 2012

Rituximab Induces Sustained Reduction Of Pathogenic B Cells In Patients With Peripheral Nervous System Autoimmunity., Michael A Maurer, Goran Rakocevic, Carol S Leung, Isaak Quast, Martin Lukačišin, Norbert Goebels, Christian Münz, Hedda Wardemann, Marinos Dalakas, Jan D Lünemann

Department of Neurology Faculty Papers

The B cell-depleting IgG1 monoclonal antibody rituximab can persistently suppress disease progression in some patients with autoimmune diseases. However, the mechanism underlying these long-term beneficial effects has remained unclear. Here, we evaluated Ig gene usage in patients with anti-myelin-associated glycoprotein (anti-MAG) neuropathy, an autoimmune disease of the peripheral nervous system that is mediated by IgM autoantibodies binding to MAG antigen. Patients with anti-MAG neuropathy showed substantial clonal expansions of blood IgM memory B cells that recognized MAG antigen. The group of patients showing no clinical improvement after rituximab therapy were distinguished from clinical responders by a higher load of clonal …


The Appropriateness Of Long-Term Opioids To Treat Chronic Back Pain, Thomas Watanabe, Michael Salino, Adam Schreiber Apr 2012

The Appropriateness Of Long-Term Opioids To Treat Chronic Back Pain, Thomas Watanabe, Michael Salino, Adam Schreiber

Department of Rehabilitation Medicine Faculty Papers

Point/Counterpoint Case Scenario: A 55-year old man presents to a pain clinic upon referral from his primary care physician. His symptom is axial low back pain. His pain started approximately 1 year earlier without a specific inciting event. He denies radiation of pain into the lower extremities. There is no bowel or bladder involvement. There is no directional preference. He reports pain "all the time," with minimal specific exacerbating or relieving factors. There is no medical-legal involvement. His medical history is significant for hypertension, hypercholesterolemia, obesity, and sleep apnea. He is a divorced father of 2 adult children. He is …


My Patient Has A Lot Of Variability In His Blood Pressure Measurements? Should I Be Worried? What Can I Do Which May Be Better?, Quratulain Shaikh, Ayeesha Kamran Kamal Apr 2012

My Patient Has A Lot Of Variability In His Blood Pressure Measurements? Should I Be Worried? What Can I Do Which May Be Better?, Quratulain Shaikh, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.


Cosmetic Neurology: Enhancement Of The Mind And Attention Deficit Hyperactive Disorder Medication Abuse Among College Students, Mary M. Huff Apr 2012

Cosmetic Neurology: Enhancement Of The Mind And Attention Deficit Hyperactive Disorder Medication Abuse Among College Students, Mary M. Huff

Senior Honors Theses

Cosmetic neurology is becoming increasingly popular, and it is not just sleep deprived, over worked college students who are interested. People are beginning to seek off-label prescriptions for medications that are typically used to treat disorders such as attention deficit hyperactive disorder (ADHD) or narcolepsy, while researchers are trying to create drugs used solely for mind enhancement purposes. Along with these drugs come many legal and ethical quandaries relating to the regulation of current use as well as the what ifs of future possibilities. A survey was conducted among college students regarding the diagnosis of ADHD, the abuse of ADHD …


My Patient Has A Lot Of Variability In His Blood Pressure Measurements? Should I Be Worried? What Can I Do Which May Be Better, Quratulain Shaikh, Ayeesha Kamran Kamal Apr 2012

My Patient Has A Lot Of Variability In His Blood Pressure Measurements? Should I Be Worried? What Can I Do Which May Be Better, Quratulain Shaikh, Ayeesha Kamran Kamal

Section of Neurology

No abstract provided.


Knowledge And Attitudes About Tetanus And Rabies: A Population-Based Survey From Karachi, Pakistan, Mohammad Wasay, Abdul Malik, Ammad Fahim, Adnan Yousuf, Rajesh Chawla, Haroon Daniel, Muhammad Rafay, Iqbal Azam, Junaid Razzak Apr 2012

Knowledge And Attitudes About Tetanus And Rabies: A Population-Based Survey From Karachi, Pakistan, Mohammad Wasay, Abdul Malik, Ammad Fahim, Adnan Yousuf, Rajesh Chawla, Haroon Daniel, Muhammad Rafay, Iqbal Azam, Junaid Razzak

Section of Neurology

OBJECTIVE: To evaluate public knowledge regarding predisposing factors, fatality and prevention of Tetanus and Rabies and attitudes toward vaccination and post-exposure prophylaxis.

METHODS: A population-based, cross-sectional survey was conducted in all the 18 towns of Karachi, the largest metropolitan city of Pakistan, from December 2007 to January 2008. Men and women of more than 18 years of age were included in the study which used a self-reporting questionarre as its tool.

RESULTS: There were 1201 people interviewed by the study. The majority of respondents had known or heard about Tetanus (n = 973; 81%) and rabies (n = 699; 58%). …


Syndrome Of Hepatic Cirrhosis, Dystonia, Polycythemia, And Hypermanganesemia Caused By Mutations In Slc30a10, A Manganese Transporter In Man, Karin Tuschl, Peter T. Clayton, Sidney M., Jr. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo T. Ribeiro, Orlando G. Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea Rideout, Kevin Gordon, Ron A. Wevers, W. K. 'Kling' Chong, Philippa B. Mills Mar 2012

Syndrome Of Hepatic Cirrhosis, Dystonia, Polycythemia, And Hypermanganesemia Caused By Mutations In Slc30a10, A Manganese Transporter In Man, Karin Tuschl, Peter T. Clayton, Sidney M., Jr. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo T. Ribeiro, Orlando G. Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea Rideout, Kevin Gordon, Ron A. Wevers, W. K. 'Kling' Chong, Philippa B. Mills

Section of Neurology

Environmental manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. We have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia in cases without environmental Mn exposure. Whole-genome mapping of two consanguineous families identified SLC30A10 as the affected gene in this inherited type of hypermanganesemia. This gene was subsequently sequenced in eight families, and homozygous sequence changes were identified in all affected individuals. The function of the wild-type protein and the effect of sequence changes were studied in the manganese-sensitive yeast strain …


Neurology Training In Pakistan, Sarwar Jamil Siddiqui Mar 2012

Neurology Training In Pakistan, Sarwar Jamil Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Can Community Based Interventions Control Hypertension In Developing Countries? What Is The Evidence From Pakistan?, Farzin Majeed, Ayeesha Kamran Kamal Mar 2012

Can Community Based Interventions Control Hypertension In Developing Countries? What Is The Evidence From Pakistan?, Farzin Majeed, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.