Neurology Commons^™

Analysis Of Genes (Tmem106b, Grn, Abcc9, Kcnmb2, And Apoe) Implicated In Risk For Late-Nc And Hippocampal Sclerosis Provides Pathogenetic Insights: A Retrospective Genetic Association Study, Adam J. Dugan, Peter T. Nelson, Yuriko Katsumata, Lincoln M. P. Shade, Kevin L. Boehme, Merilee A. Teylan, Matthew D. Cykowski, Shubhabrata Mukherjee, John S. K. Kauwe, Timothy J. Hohman, Julie A. Schneider, Alzheimer’S Disease Genetics Consortium, David W. Fardo

Biostatistics Faculty Publications

Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) is the most prevalent subtype of TDP-43 proteinopathy, affecting up to 1/3rd of aged persons. LATE-NC often co-occurs with hippocampal sclerosis (HS) pathology. It is currently unknown why some individuals with LATE-NC develop HS while others do not, but genetics may play a role. Previous studies found associations between LATE-NC phenotypes and specific genes: TMEM106B, GRN, ABCC9, KCNMB2, and APOE. Data from research participants with genomic and autopsy measures from the National Alzheimer’s Coordinating Center (NACC; n = 631 subjects included) and the Religious Orders Study and Memory …

Pediatric Partnership: Drs. Aaron & Metta Cardon Join Unm Child Neurology Faculty, Michael Haederle

HSC Newsroom

No abstract provided.

Language Tasks And The Network Control Role Of The Left Inferior Frontal Gyrus, John D Medaglia, Denise Y Harvey, Apoorva S Kelkar, Jared P Zimmerman, Joely A Mass, Danielle S Bassett, Roy H Hamilton

Department of Neurology Faculty Papers

Recent work has combined cognitive neuroscience and control theory to make predictions about cognitive control functions. Here, we test a link between whole-brain theories of semantics and the role of the left inferior frontal gyrus (LIFG) in controlled language performance using network control theory (NCT), a branch of systems engineering. Specifically, we examined whether two properties of node controllability, boundary and modal controllability, were linked to semantic selection and retrieval on sentence completion and verb generation tasks. We tested whether the controllability of the left IFG moderated language selection and retrieval costs and the effects of continuous θ burst stimulation …

Rupture Of A Superficial Temporal Artery Pseudoaneurysm Following Craniotomy, Jessica A. Shields, Jared M. Robichaux, Kevin Morrow, Clifford Crutcher, Gabriel Tender

School of Medicine Faculty Publications

Pseudoaneurysm of the superficial temporal artery (STA) is a rare entity that has been reported in the literature after trauma or iatrogenic injuries. We describe a unique case of STA pseudoaneurysm rupture and the clinical sequelae associated with its rupture. We report a case of pseudoaneurysm rupture of the STA that occurred 14 days after craniotomy for cerebrospinal fluid leak repair. We also review the literature, diagnosis and treatment of external carotid artery aneurysms. Rupture of a STA pseudoaneurysm is a previously unreported and serious complication that must be quickly recognized in order to control hemorrhage that may have life …

Activity-Dependent Modulation Of Synapse-Regulating Genes In Astrocytes, Isabella Farhy-Tselnicker, Matthew M Boisvert, Hanqing Liu, Cari Dowling, Galina A Erikson, Elena Blanco-Suarez, Chen Farhy, Maxim N Shokhirev, Joseph R Ecker, Nicola J Allen

Department of Neurosurgery Faculty Papers

Astrocytes regulate the formation and function of neuronal synapses via multiple signals, however, what controls regional and temporal expression of these signals during development is unknown. We determined the expression profile of astrocyte synapse-regulating genes in the developing mouse visual cortex, identifying astrocyte signals that show differential temporal and layer-enriched expression. These patterns are not intrinsic to astrocytes, but regulated by visually-evoked neuronal activity, as they are absent in mice lacking glutamate release from thalamocortical terminals. Consequently, synapses remain immature. Expression of synapse-regulating genes and synaptic development are also altered when astrocyte signaling is blunted by diminishing calcium release from …

Scoping Review: The Empowerment Of Alzheimer’S Disease Caregivers With Mhealth Applications, Eunhee Kim, Andrius Baskys, Anandi V. Law, Moom R. Roosan, Yan Li, Don Roosan

Pharmacy Faculty Articles and Research

Alzheimer’s Disease (AD) is one of the most prevalent neurodegenerative chronic diseases. As it progresses, patients become increasingly dependent, and their caregivers are burdened with the increasing demand for managing their care. Mobile health (mHealth) technology, such as smartphone applications, can support the need of these caregivers. This paper examines the published academic literature of mHealth applications that support the caregivers of AD patients. Following the PRISMA for scoping reviews, we searched published literature in five electronic databases between January 2014 and January 2021. Twelve articles were included in the final review. Six themes emerged based on the functionalities provided …

Frontotemporal Dementias In Latin America: History, Epidemiology, Genetics, And Clinical Research, Jorge J. Llibre-Guerra, Maria Isabel Behrens, Mirna Lie Hosogi, Lucia Montero, Teresa Torralva, Nilton Custodio, Erika Mariana Longoria-Ibarrola, Margarita Giraldo-Chica, David Aguillón, Gladys E. Maestre

School of Medicine Publications

Introduction: The historical development, frequency, and impact of frontotemporal dementia (FTD) are less clear in Latin America than in high-income countries. Although there is a growing number of dementia studies in Latin America, little is known collectively about FTD prevalence studies by country, clinical heterogeneity, risk factors, and genetics in Latin American countries.

Methods: A systematic review was completed, aimed at identifying the frequency, clinical heterogeneity, and genetics studies of FTD in Latin American populations. The search strategies used a combination of standardized terms for FTD and related disorders. In addition, at least one author per Latin American country summarized …

Translation And Validation Of The Urdu Version Of The European Organization For Research And Treatment Of Cancer Core Quality Of Life Questionnaire (Eortc Qlq-C30) And Brain Module (Qlq-Bn20) In Primary Brain Tumor Patients, Nida Zahid, Russell S. Martins, Wajeeha Zahid, Wardah Khalid, Syed Iqbal Azam, Shireen Shehzad Bhamani, Nargis Asad, Khabir Ahmad, Adnan Abdul Jabbar, Muhammad Shahzad Shamim, Rashid Jooma, Gohar Javed, Muhammad Ehsan Bari, Ather Enam

Department of Surgery Docs

Introduction: This study translated and validated the Urdu version of the European Organization for Research and Treatment of Cancer Quality of Life (QoL) Questionnaire (EORTC QLQ-C30) and Brain Module (QLQ-BN20) amongst patients with primary brain tumors (PBT) in Pakistan, and assessed the correlation of QoL with resilience, depression, and anxiety.
Methods: Translation of the EORTC QLQ-C30 and QLQ-BN20 was performed as per EORTC guidelines. A survey comprising of Urdu translations of EORTC QLQ-C30, QLQ-BN20, Wagnild and Young Resilience Scale (RS-14) and Hospital Anxiety and Depression Scale was administered to patients with PBT at a tertiary care hospital in Pakistan. Reliability …

Role Of Multidisciplinary Neuro-Oncology Tumour Boards In Cancer Management, Mohammad Hamza Bajwa, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Multidisciplinary care, including a tumour board discussion for all patients with oncological problems is now considered a standard. However, this is not uniformly implemented within many centres, especially in developing countries. The structure of these tumour boards allows for comprehensive discussion and debate regarding various treatment pathways, with inputs from all specialties. This creates a consensus regarding management for each patient that is unique and holistic. Despite its widespread implementation, published data on neuro-oncology tumour boards is quite limited. The presented literature review briefly discusses the structure, goals, outcomes achieved by multidisciplinary tumour boards within the field of neuro-oncology.

Risk Factors For Stroke In, Bolan Medical Complex Hospital Quetta, Muhammad Essa, Amanullah Kakar, Dr Gulandam, Muhammad Saleem Barech, Hina Imtiaz, Sher Zaman Mandokhail, Muhammad Dawood

Pakistan Journal of Neurological Sciences (PJNS)

Stroke is one of the leading causes of physical impairment and mortality worldwide. Optimizing preventive strategies will help decrease the burden of stroke. The objectives of this study were to determine common stroke risk factors, by analyzing a comprehensive panel of variables in our local population.

200 patients were consecutively enrolled in this prospective observational study at stroke unit (SU) of Bolan Medical Complex Hospital over 6 months from March 2019 to August 2019. Structured questionnaires were prepared History and clinical examination were performed to gather relevant information. CT scan of brain was done to confirm the diagnosis of stroke. …

Suicide, A Convoluted Challenge In Covid-19 Era, Aisha Noorullah

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

A Rare Case Of Thiamine Responsive Megaloblastic Anemia Presenting With Seizures, Waleed Shahzad, Tehmina Inayat, Mansoor Iqbal, Muhammad Hassan, Fibhaa Syed, Naveed Ullah Khan, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Thiamine responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare entity inherited as an autosomal recessive disorder. It consists of a pentad of diabetes-mellitus, megaloblastic anemia, thrombocytopenia, leukopenia and sensory-neural hearing loss. The defect occurs due to mutations in SLC19A2 gene resulting in the deficiency of a thiamine transporter proteins which prevents the transport of thiamine in to the cells and tissues. Here we report a 13 year old boy with megaloblastic anemia, sensory-neural deafness and young onset diabetes mellitus who presented with generalized tonic-clonic seizures. Diagnosis was based on clinical features and a rapid response to …

Effects Of Intermittent Fasting On Cognition And Neurodegeneration, Dureshahwar Kanwar, Mohammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

Intermittent fasting (IF) can facilitate neurodegenerative, neuroadaptive and neuroprotective processes leading to profound effects on cognition and dementias. The impact that IF has on the central nervous system is still not fully known. Several factors come into likely effect including changes in energy metabolism, oxidative damage, insulin sensitivity, inflammation, and functional changes related to various neurotransmitters and hormones. During IF ketones are produced in large quantities and the brain consumes these for energy. The presence of ketone bodies increases the expression of the genes for brain derived neurotrophic factor which has a powerful effect on dementia and cognition. Brain derived …

Finding Needle In A Haystack; Neuroleptic Malignant Syndrome Disguising Meningitis In A 2-Years-Old Girl, Raman Kumar, Farah Shams Abbasi, Asma Noreen

Pakistan Journal of Neurological Sciences (PJNS)

Fever with CNS symptoms in children is almost, always considered to be a CNS infection and treated as Meningitis. Central causes of fever are not usually taken in to the account in such cases. We present a case of a 2- year old girl who developed fever and CNS symptoms after she was given anti-emetic medications for her initial presentation of acute gastroenteritis. She developed high grade fever and spasticity and was treated on lines of meningitis empirically without any evidence of infection. She did not improve and once she fulfilled clinical criteria of Neuroleptic malignant syndrome, her condition improved, …

Pediatric Neurology In Pakistan: Past, Present And Future, Iram Javed

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

A Rare Case Of X-Linked Bulbo-Spinal Muscular Atrophy With Sensory Neuropathy And Tremors, Waleed Shahzad, Muhammad Hassan, Mansoor Iqbal, Zakir Jan, Tehmina Inayat, Mazhar Badshah, Muhammad Irshad

Pakistan Journal of Neurological Sciences (PJNS)

Kennedy disease (KD) is also known as spino bulbar muscular atrophy caused by a tandem C-A-G tri-nucleotide repeat. It is an adult-onset X-linked recessive inherited neurodegenerative disease involving lower motor neuron damage with predominance of facial muscles. It is often accompanied with androgen sensitivity, sensory nerve damage and endocrinal involvement. It has similar confusing symptoms and is often mis-diagnosed with most of the neuromuscular diseases like POEMS syndrome, myasthenia gravis, mitochondrial myopathy and amyotrophic lateral sclerosis. Hence clinical differentiation is important to prevent adverse outcomes and un-necessary treatment. Here we describe a rare case of a 46 year old Pakistani …

Barriers And Challenges To Mental Health Care In Pakistan, Fatima Siddiqui, Qurat Ul Ain Khan

Pakistan Journal of Neurological Sciences (PJNS)

World Health Organization (WHO) defines health as "a state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity"(1). Despite being a global health-related burden, and a major cause of morbidity worldwide including Pakistan, mental health diseases are an overlooked entity in our country. In Pakistan, we have seen a rapid improvement in the treatment of conditions related to physical health over the course of years, but mental health issues are still being given limited priority. Pakistan is the 6th most populated country in the world with a current estimated population of 210 million …

Self-Concept, Self- Affirmation And Psychological Distress In Women With Polycystic Ovarian Syndrome (Pcos), Zeenash Mazhar Dar, Muhammad Nasar Iqbal, Muhammad Rafiq, Shahyan Qamar, Fatima Javed

Pakistan Journal of Neurological Sciences (PJNS)

To study the relationship among self-concept, self- affirmation and psychological distress in females having Polycystic Ovary Syndrome (PCOS).

In this correlational study one hundred patients with polycystic ovarian syndrome participated with age ranging from 21-40 years. Self-Concept questionnaire, self-Affirmation scale, and Kessler psychological distress scale were used to collect data

The results of this study revealed that negative-self-concept has significantly positive relationship with psychological distress. Multiple regression revealed that positive self-concept negatively predicted psychological distress in females having polycystic ovarian disease. Independent sample t=test revealed that psychological distress is more in married women (M= 32.96, SD=8.60) as compared to single …

Current Status Of Non-Disease Modifying Gene Therapy In Parkinson’S Disease, Muhammad Shariq Shaikh, Syed Ahsan Ali, Dureshahwar Kanwar

Pakistan Journal of Neurological Sciences (PJNS)

Parkinson’s disease (PD) is a chronic progressive neurological disorder characterized by bradykinesia, tremor, muscular rigidity, and postural instability. The world-wide prevalence is expected to rise further with increasing mean age. Theoretically, if all desired elements required for dopamine synthesis are functionally available, need for exogenous L-DOPA administration can be eliminated or markedly reduced. However, lack of effective long-term treatment has led to extensive gene therapy research focusing both on disease modifying as well as non-disease modifying aspects. Since genetic lesions are found in both familial as well as sporadic PD cases, the principle of introducing a normal gene to cure …

Apathy And Brain Atrophy During The First Year Of Moderate-Severe Traumatic Brain Injury: A Longitudinal Study, Gulnaz Kudoiarova

Dissertations, Theses, and Capstone Projects

Apathy, defined as disinterest and loss of motivation, is a common complication after moderate-severe traumatic brain injury (msTBI). The existing body of research in various neurological and neurodegenerative disorders suggests that apathetic symptoms may be associated with variation in the volume of the brain regions such as dorsal anterior cingulate cortex and ventral striatum. However, the longitudinal pattern of TBI-induced atrophy in these key regions and its relationship with apathy symptoms remain to be demonstrated. The current study aimed to describe the atrophy pattern in the anterior cingulate gyrus (ACG) and the nucleus accumbens (NAc; part of ventral striatum) after …