Neurology Commons^™

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 …

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.

Cross-Sectional Analysis Of Baseline Visual Parameters In Subjects Recruited Into The Rescue And Reverse Nd4-Lhon Gene Therapy Studies, Mark Moster, Robert C Sergott, Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Molly Scannell Bryan, Gerard Smits, Valérie Biousse, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A Sadun, Adam A. Debusk, Michele Carbonelli, Rabih Hage, Siegfried Priglinger, Rustum Karanjia, Laure Blouin, Magali Taiel, Barrett Katz, José Alain Sahel

Wills Eye Hospital Papers

OBJECTIVE: This report presents a cross-sectional analysis of the baseline characteristics of subjects with Leber hereditary optic neuropathy enrolled in the gene therapy trials RESCUE and REVERSE, to illustrate the evolution of visual parameters over the first year after vision loss.

METHODS: RESCUE and REVERSE were 2 phase III clinical trials designed to assess the efficacy of rAAV2/2-ND4 gene therapy in ND4-LHON subjects. At enrollment, subjects had vision loss for ≤6 months in RESCUE, and between 6 and 12 months in REVERSE. Functional visual parameters (best-corrected visual acuity [BCVA], contrast sensitivity [CS], and Humphrey Visual Field [HVF]) and structural parameters …

Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy For Leber Hereditary Optic Neuropathy: The Restore Study, Valérie Biousse, Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark Moster, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A Sadun, Robert C Sergott, Rabih Hage, Simona Esposti, Chiara La Morgia, Claudia Priglinger, Rustum Karanja, Laure Blouin, Magali Taiel, José-Alain Sahel

Wills Eye Hospital Papers

BACKGROUND: RESCUE and REVERSE were 2 Phase 3 clinical trials that assessed the efficacy and safety of intravitreal gene therapy with lenadogene nolparvovec (rAAV2/2-ND4) for the treatment of Leber hereditary optic neuropathy (LHON). RESTORE is the long-term follow-up study of subjects treated in the RESCUE and REVERSE trials.

METHODS: In RESCUE and REVERSE, 76 subjects with LHON because of the m.11778 G>A mutation in the mitochondrial gene ND4 received a single unilateral intravitreal injection of lenadogene nolparvovec. After 96 weeks, 61 subjects were enrolled in the long-term follow-up study RESTORE. The best-corrected visual acuity (BCVA) was assessed over a …

Takayasu Arteritis: A Rare Cause Of Chronic Headache, Linda Barasa, Adil Salyani, Jillo Bika, Fred Otieno, Dilraj Sokhi

Internal Medicine, East Africa

Chronic headache can be a presenting manifestation of Takayasu arteritis, although patients usually have other characteristic features. A thorough clinical assessment remains key in the evaluation of chronic headache.

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

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

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 …

Longitudinal Changes Of Regional Myelin Water Fraction During First Year After Moderate-To-Severe Diffuse Traumatic Brain Injury, Likowsky L. Desir

Dissertations, Theses, and Capstone Projects

Traumatic brain injury (TBI) is a worldwide health issue with a highly heterogeneous disease characterization, including widespread white matter damage in the brain. Most non-invasive white matter imaging methods currently available, including diffusion tensor imaging (DTI), cannot reliably measure the degree of neurodegeneration due to various confounds, making it challenging to select an endpoint measure for neuroprotective clinical trials. The present study investigates longitudinal white matter changes, measured by a novel imaging metric, apparent myelin water fraction (aMWF), and its relationship with neuropsychological measures during the first year after TBI. Data from 15 adult patients with moderate-to-severe TBI and 30 …

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 …

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, …

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 …

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 …

Intra-Arterial Combination Therapy For Experimental Acute Ischemic Stroke, Michael E. Maniskas, Jill M. Roberts, Amanda A. Gorman, Gregory J. Bix, Justin F. Fraser

Neurosurgery Faculty Publications

Acute ischemic stroke continues to devastate millions of individuals worldwide. Current treatments work to restore blood flow but not rescue affected tissue. Our goal was to develop a combination of neuroprotective agents administered intra-arterially following recanalization to target ischemic tissue. Using C57Bl/6J male mice, we performed tandem transient ipsilateral middle cerebral/common carotid artery occlusion, followed by immediate intra-arterial pharmacotherapy administration through a standardized protocol. Two pharmacotherapy agents, verapamil and lubeluzole, were selected based on their potential to modulate different aspects of the ischemic cascade; verapamil, a calcium channel blocker, works in an acute fashion blocking L-type calcium channels, whereas lubeluzole, …

Total Body Photography And Sequential Digital Dermoscopy Imaging For Melanoma Surveillance In Patients Starting Natalizumab For Multiple Sclerosis, Tyler Nussinow Ba, Amanda Robinson Np, Biljana Beretich Md, Kathryn Stevens Np, Elizabeth Seiverling Md

Journal of Maine Medical Center

Introduction: Natalizumab is an integrin receptor antagonist that has been approved by the Food and Drug Administration to treat multiple sclerosis and Crohn’s disease. The drug has been linked to an increased risk of melanoma. This brief report highlights an innovative clinical approach for monitoring the skin of patients prescribed natalizumab.

Methods: We include 2 cases from our skin oncology clinic and a literature review on the incidence of melanoma in patients prescribed natalizumab between 2004 and 2019.

Results: In addition to our 2 cases, we found 193 reports of patients with melanoma who were prescribed natalizumab. We propose an …

Difficulty Breathing Or Just A Case Of The Nerves? Incidental Finding Of Primary Pleural Schwannoma In A Covid-19 Survivor, Daania Shoaib, Muhammad Nauman Zahir, Saqib R. Khan, Adnan Jabbar, Yasmin Abdul Rashid

Section of Haematology/Oncology

Schwannoma is a rare tumor that arises from the Schwann cells, which are specialized, myelin-producing cells of the peripheral nerve sheaths. As anatomic logic would dictate, these masses commonly occur in the skull base, cerebellopontine angle, and posterior spinal roots. Of this already rare entity, rarer still are the pleural schwannomas, representing approximately 1-2% of thoracic tumors. These tumors commonly affect adults with a propensity for the third and sixth decades of life and a comparative male predilection. Schwannomas are benign, indolent, and follow an asymptomatic course. As such, they often come to light incidentally.
Here we report a case …