Medical Specialties Commons^™

Late-Onset Stiff-Person Syndrome: Challenges In Diagnosis And Management, Marinos Dalakas, Jessica Yi

Department of Neurology Faculty Papers

BACKGROUND: Stiff person syndrome (SPS) is a rare slowly progressive autoimmune neuronal hyperexcitability disease with very-high GAD-65 antibody titers that most commonly presents above the age of 20, with muscle stiffness, painful muscle spasms, slow gait, and falls leading to disability. In other autoimmune disorders, late-onset disease has different symptom-spectrum and outcomes, but there is no information regarding late-onset SPS (LOSPS).

OBJECTIVE: Highlight delayed diagnosis and poor tolerance or incomplete response to therapies of patients with LOSPS and outline how best to increase disease awareness early at onset.

DESIGN A RETROSPECTIVE CHART REVIEWMETHODS: We reviewed GAD-positive SPS patients with symptom …

Para-Infectious Brain Injury In Covid-19 Persists At Follow-Up Despite Attenuated Cytokine And Autoantibody Responses, Benedict D Michael, Cordelia Dunai, Edward J Needham, Kukatharmini Tharmaratnam, Robyn Williams, Yun Huang, Sarah A Boardman, Jordan J Clark, Parul Sharma, Krishanthi Subramaniam, Greta K Wood, Ceryce Collie, Richard Digby, Alexander Ren, Emma Norton, Maya Leibowitz, Soraya Ebrahimi, Andrew Fower, Hannah Fox, Esteban Tato, Mark A Ellul, Geraint Sunderland, Marie Held, Claire Hetherington, Franklyn N Egbe, Alish Palmos, Kathy Stirrups, Alexander Grundmann, Anne-Cecile Chiollaz, Jean-Charles Sanchez, James P Stewart, Michael Griffiths, Tom Solomon, Gerome Breen, Alasdair J Coles, Nathalie Kingston, John R Bradley, Patrick F Chinnery, Jonathan Cavanagh, Sarosh R Irani, Angela Vincent, J Kenneth Baillie, Peter J Openshaw, Malcolm G Semple, Covid-Cns Consortium, Isaric4c Investigators, Leonie S Taams, David K Menon

Faculty, Staff and Student Publications

To understand neurological complications of COVID-19 better both acutely and for recovery, we measured markers of brain injury, inflammatory mediators, and autoantibodies in 203 hospitalised participants; 111 with acute sera (1-11 days post-admission) and 92 convalescent sera (56 with COVID-19-associated neurological diagnoses). Here we show that compared to 60 uninfected controls, tTau, GFAP, NfL, and UCH-L1 are increased with COVID-19 infection at acute timepoints and NfL and GFAP are significantly higher in participants with neurological complications. Inflammatory mediators (IL-6, IL-12p40, HGF, M-CSF, CCL2, and IL-1RA) are associated with both altered consciousness and markers of brain injury. Autoantibodies are more common …

Education Research: Virtual Patient Management Conference For Epilepsy Surgery In The Post-Covid-19 Era: An Educational Perspective, Thomas Pecha, Sharonya Shetty, Abhishek Kengen, Jay Gavvala, Atul Maheshwari

Faculty, Staff and Students Publications

BACKGROUND AND OBJECTIVES: The primary objective of this study was to assess the potential educational value of a virtual patient management conference (PMC) with the introduction of inclusive anonymous polling at a comprehensive epilepsy center. The secondary objective was to evaluate differences between faculty and trainee polling results.

METHODS: Two online surveys were sent 1 year apart seeking opinions about a transition to virtual PMC and completed by virtual PMC faculty participants (including representatives from neurology, neurosurgery, and neuropsychology). One online survey was sent to trainees (medical students, residents, and fellows) to assess the educational value of the conference. Anonymous …

How To Peer Review A Neurology Education Manuscript, Daniel G Di Luca, Steven M Lazar, Preeta Gupta, Marie Charmaine S Lukban, Cole Crowson, Dara V F Albert, Jeremy J Moeller, Andres Fernandez, Andrew M Southerland, Zachary London

Faculty, Staff and Students Publications

Peer review is an essential process in scientific research, ensuring the comprehensiveness, accuracy, and suitability of manuscripts for publication. Neurology education research differs from biomedical clinical research in several ways. These differences encompass specific paradigms, the use of theoretical frameworks, and different methodological approaches. Despite the high number of studies and journal publications on neurology education, there is a dearth of resources and guidance on how to perform a formal review on this specific literature. This article aims to review the distinctive features of neurology education from clinical research while proposing an organizational framework and model for performing peer reviews …

Drivers Of Chronic Pathology Following Ischemic Stroke: A Descriptive Review, Grant W Goodman, Trang H Do, Chunfeng Tan, Rodney M Ritzel

Faculty, Staff and Student Publications

Stroke is the third leading cause of death and long-term disability in the world. Considered largely a disease of aging, its global economic and healthcare burden is expected to rise as more people survive into advanced age. With recent advances in acute stroke management, including the expansion of time windows for treatment with intravenous thrombolysis and mechanical thrombectomy, we are likely to see an increase in survival rates. It is therefore critically important to understand the complete pathophysiology of ischemic stroke, both in the acute and subacute stages and during the chronic phase in the months and years following an …

Mirna-211 Maintains Metabolic Homeostasis In Medulloblastoma Through Its Target Gene Long-Chain Acyl-Coa Synthetase 4, Menglang Yuan, Iqbal Mahmud, Keisuke Katsushima, Kandarp Joshi, Olivier Saulnier, Rudramani Pokhrel, Bongyong Lee, Wathsala Liyanage, Haritha Kunhiraman, Stacie Stapleton, Ignacio Gonzalez-Gomez, Rangaramanujam M Kannan, Tanja Eisemann, Elayaraja Kolanthai, Sudipta Seal, Timothy J Garrett, Saed Abbasi, Kimberly Bockley, Justin Hanes, Prem Chapagain, George Jallo, Robert J Wechsler-Reya, Michael D Taylor, Charles G Eberhart, Animesh Ray, Ranjan J Perera

Faculty, Staff and Students Publications

The prognosis of childhood medulloblastoma (MB) is often poor, and it usually requires aggressive therapy that adversely affects quality of life. microRNA-211 (miR-211) was previously identified as an important regulator of cells that descend from neural cells. Since medulloblastomas primarily affect cells with similar ontogeny, we investigated the role and mechanism of miR-211 in MB. Here we showed that miR-211 expression was highly downregulated in cell lines, PDXs, and clinical samples of different MB subgroups (SHH, Group 3, and Group 4) compared to normal cerebellum. miR-211 gene was ectopically expressed in transgenic cells from MB subgroups, and they were subjected …

Nucleus Accumbens Core Single Cell Ensembles Bidirectionally Respond To Experienced Versus Observed Aversive Events, Oyku Dinckol, Noah Harris Wenger, Jennifer E Zachry, Munir Gunes Kutlu

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Fear learning is a critical feature of survival skills among mammals. In rodents, fear learning manifests itself through direct experience of the aversive event or social transmission of aversive stimuli such as observing and acting on conspecifics' distress. The neuronal network underlying the social transmission of information largely overlaps with the brain regions that mediate behavioral responses to aversive and rewarding stimuli. In this study, we recorded single cell activity patterns of nucleus accumbens (NAc) core neurons using in vivo optical imaging of calcium transients via miniature scopes. This cutting-edge imaging methodology not only allows us to record activity patterns …

Variations Of The Trapezius Branch Of The Accessory Nerve: An Anatomic Study, Matthew E Lin, Celeste Kim, Adam Howard, Niels Kokot

Faculty, Staff and Student Publications

Although modified radical neck dissections have increased in popularity to reduce morbidity secondary to intraoperative accessory nerve damage, inadvertent injury still often occurs. As this phenomenon is thought to be due to anatomic variation in the trapezius branch of the accessory nerve, it is imperative to better understand the nuances of these anatomic variations to better inform surgical decision-making. A total of 24 accessory nerves were dissected, exposed, and traced in 15 cadavers. Three aspects of the accessory nerve were identified and recorded: the course of the trapezius branch in relation to the sternocleidomastoid, the number of trapezius branches at …

Bayesian Longitudinal Tensor Response Regression For Modeling Neuroplasticity, Suprateek Kundu, Alec Reinhardt, Serena Song, Joo Han, M Lawson Meadows, Bruce Crosson, Venkatagiri Krishnamurthy

Faculty, Staff and Student Publications

A major interest in longitudinal neuroimaging studies involves investigating voxel-level neuroplasticity due to treatment and other factors across visits. However, traditional voxel-wise methods are beset with several pitfalls, which can compromise the accuracy of these approaches. We propose a novel Bayesian tensor response regression approach for longitudinal imaging data, which pools information across spatially distributed voxels to infer significant changes while adjusting for covariates. The proposed method, which is implemented using Markov chain Monte Carlo (MCMC) sampling, utilizes low-rank decomposition to reduce dimensionality and preserve spatial configurations of voxels when estimating coefficients. It also enables feature selection via joint credible …

End Of Life In The Ed – Brain Death And Organ Transplantation, Madison Cohen, Donald Penney

The Journal of Integrated Primary Care

Every year thousands of Americans die awaiting an organ transplant. While our knowledge and experience with organ transplantation has only improved, organ availability continues to be a major issue due to a lack of suitable donor organs. A large population of organ donors are those who have been clinically diagnosed as brain dead. Brain death is defined as the irreversible loss of all brain and brainstem functions. Despite brainstem functions being lost, mechanical ventilation and perfusion techniques allow for proper organ maintenance. This gives brain-dead individuals a unique opportunity to serve as multiple organ donors. However, due to mistrust of …

Detection Of Prions In The Urine Of Patients Affected By Sporadic Creutzfeldt-Jakob Disease, M Talke

Faculty, Staff and Student Publications

Objective

Currently, it is unknown whether infectious prions are present in peripheral tissues and biological fluids of patients affected by sporadic Creutzfeldt–Jakob disease (sCJD), the most common prion disorder in humans. This represents a potential risk for inter‐individual prion infection. The main goal of this study was to evaluate the presence of prions in urine of patients suffering from the major subtypes of sCJD.

Methods

Urine samples from sCJD patients spanning the six major subtypes were tested. As controls, we used urine samples from people affected by other neurological or neurodegenerative diseases as well as healthy controls. These samples were …

Capacity Assessment And Spatial Analysis Of Cervical Cancer Services In The Gambia, Meghan E Mali, Ousman Sanyang, Katherine L Harris, Justin Sorensen, Mustapha Bittaye, Jonathan Nellermoe, Raymond R Price, Edward K Sutherland

Faculty, Staff and Student Publications

Background

Cervical cancer is the most common cancer and the leading cause of cancer-related death in Gambian women. The Gambian Ministry of Health is striving to improve access to screening, diagnostic, and treatment services for cervical cancer, but comprehensive data on currently available services is limited making it challenging to appropriately prioritize the ideal next steps for expanding care. This study aims to describe the current services available for the prevention, screening, and treatment of cervical cancer in The Gambia and provide suggestions for expanding geographic access to care.

Methods

A survey aimed at assessing the availability of key cervical …

Novel Sox10 Indel Mutations Drive Schwannomas Through Impaired Transactivation Of Myelination Gene Programs, Erik A Williams, Ajay Ravindranathan, Rohit Gupta, Nicholas O Stevers, Abigail K Suwala, Chibo Hong, Somang Kim, Jimmy Bo Yuan, Jasper Wu, Jairo Barreto, Calixto-Hope G Lucas, Emily Chan, Melike Pekmezci, Philip E Leboit, Thaddeus Mully, Arie Perry, Andrew Bollen, Jessica Van Ziffle, W Patrick Devine, Alyssa T Reddy, Nalin Gupta, Kristen M Basnet, Robert J B Macaulay, Patrick Malafronte, Han Lee, William H Yong, Kevin Jon Williams, Tareq A Juratli, Douglas A Mata, Richard S P Huang, Matthew C Hiemenz, Dean C Pavlick, Garrett M Frampton, Tyler Janovitz, Jeffrey S Ross, Susan M Chang, Mitchel S Berger, Line Jacques, Jun S Song, Joseph F Costello, David A Solomon

Faculty, Staff and Student Publications

BACKGROUND: Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity given their stereotypic intracranial and paraspinal locations. Similar to many solid tumors, schwannomas and other nerve sheath tumors are primarily thought to arise due to aberrant hyperactivation of the RAS growth factor signaling pathway. Here, we sought to further define the molecular pathogenesis of schwannomas.

METHODS: We performed comprehensive genomic profiling on a cohort of 96 human schwannomas, as well as DNA methylation profiling on a subset. Functional studies including RNA sequencing, chromatin immunoprecipitation-DNA sequencing, electrophoretic mobility shift assay, and luciferase reporter assays were performed in a …

Antiseizure Effects Of Peganum Harmala L. And Lavandula Angustifolia, Zahra Rahimian, Seyedhassan Sadrian, Mina Shahisavandi, Hadi Aligholi, Mohammad M. Zarshenas, Alireza Abyar, Zahra Zeraatpisheh, Ali A. Asadi-Pooya

Department of Neurology Faculty Papers

Peganum harmala L. and Lavandula angustifolia are two traditional herbs with probable antiseizure effects. This study evaluated the effects of these two herbal extracts on pentylenetetrazol- (PTZ-) induced seizures in mice. We prepared hydroalcoholic extracts using P. harmala seeds and the aerial parts of L. angustifolia and then randomly divided 190 mice into 19 groups. Normal saline (10 mg/kg), diazepam (2 mg/kg), P. harmala (2.5, 5, 10, 15, 30, 45, and 60 mg/kg), and L. angustifolia (200, 400, 600, and 800 mg/kg) were intraperitoneally (IP) administrated 30 min before an IP administration of PTZ (90 mg/kg). Animals were observed for …

Agreement Between Published Reference Resources For Neurofilament Light Chain Levels In People With Multiple Sclerosis., Elias S Sotirchos, Chen Hu, Matthew D Smith, Hannah-Noelle Lord, Anna L Duval, Georgina Arrambide, Xavier Montalban, Katja Akgün, Tjalf Ziemssen, Robert T Naismith, Carrie M Hersh, Megan Hyland, Lauren B Krupp, Jacqueline A Nicholas, Robert A Bermel, Ellen M Mowry, Peter A Calabresi, Kathryn C Fitzgerald

Neuroscience Articles

OBJECTIVES: To examine the agreement between published reference resources for neurofilament light chain (NfL) applied to a large population of people with multiple sclerosis (MS).

METHODS: Six published reference resources were used to classify NfL in participants in the Multiple Sclerosis Partners Advancing Technology and Health Solutions (MS PATHS) network as elevated or normal and to derive age-specific NfL

RESULTS: NfL measurements were assessed from 12,855 visits of 6,687 people with MS (median 2 samples per individual [range 1-7]). The mean ± SD age was 47.1 ± 11.7 years, 72.1% of participants were female, disease duration was 15.0 ± 10.6 …

Plasma Exchange Reduces Aβ Levels In Plasma And Decreases Amyloid Plaques In The Brain In A Mouse Model Of Alzheimer's Disease, Santiago Ramirez, Suelyn Koerich, Natalia Astudillo, Nicole De Gregorio, Rabab Al-Lahham, Tyler Allison, Natalia Pessoa Rocha, Fei Wang, Claudio Soto

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is the most common type of dementia, characterized by the abnormal accumulation of protein aggregates in the brain, known as neurofibrillary tangles and amyloid-β (Aβ) plaques. It is believed that an imbalance between cerebral and peripheral pools of Aβ may play a relevant role in the deposition of Aβ aggregates. Therefore, in this study, we aimed to evaluate the effect of the removal of Aβ from blood plasma on the accumulation of amyloid plaques in the brain. We performed monthly plasma exchange with a 5% mouse albumin solution in the APP/PS1 mouse model from 3 to 7 …

Evaluation Of Compliance To Brivaracetam Restrictions Within A Large Multicenter Health System, Meghan Mcnulty Pharmd, Mahmoud Amir Pharmd, Fccm, Bcps, Bcccp, Paul Ahearn, Michele Moura Pharmd, Bcps, Bcccp

Posters

This evaluation aims to assess whether the health-system is adhering to brivaracetam prescribing restrictions and determine if there are any opportunities for improvement to the current ordering workflow.

Cerebellar Symptoms After Dengue Fever With Bright Middle Cerebellar Peduncle Sign, Soban Khan, Zaid Waqar, Zakir Jan, Muhammad Tariq

Pakistan Journal of Neurological Sciences (PJNS)

Dengue fever is a seasonal epidemic that effects population all across Pakistan every monsoon season and leads to thousands of cases every year. Dengue fever can be associated with neurological complications both during the acute stage and after recovery. These include encephalitis and hemorrhagic complications as well as late immune-related conditions such as Guillain-Barre syndrome and acute disseminated encephalomyelitis. Here we present case of a patient who developed new onset cerebellar symptoms two weeks after recovery from dengue fever, with a middle cerebellar peduncle sign on MRI Brain.

Utility Of Pudendal Nerve Electrodiagnostics In Cases Of Bladder-Bowel Dysfunction- A Retrospective Study From A Tertiary Care Center In Pakistan, Hina Imtiaz, Ayisha Farooq Khan, Zuha Alvi, Dureshahwar Kanwar

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Electrodiagnostic studies play a crucial role in identifying neurogenic and non-neurogenic causes of bladder and bowel dysfunction. Such data is scarce in Pakistan. The objective of this study was to evaluate utility of pudendal nerve assessment in bladder-bowel dysfunction.

Methods:

A retrospective observational study was carried out at the neurophysiology lab in Aga Khan University Hospital. Patients referred for electromyography/nerve conduction studies (EMG/NCS) for pudendal nerve assessment from June 2013 to June 2023 were included. Clinical data, EMG/NCS results, and demographic information were analyzed using SPSS.

Results:

Twenty patients (11 male and nine female) were included. Five …

Co-Occurrence Of Recurrent Migrainous Headaches And Transient Global Amnesia Following Minor Head Trauma: A Case Report, Aziz Badruddin Sonawalla, Saadia Arshad, Shafaq Saleem

Pakistan Journal of Neurological Sciences (PJNS)

A 32-year-old male, with a history of recurrent throbbing headaches, presented with three episodes of minor trauma to the head followed by throbbing headaches and blurred vision. In two of these episodes, he also had clinical features suggesting the occurrence of transient global amnesia (TGA) at the same time. Although migraines as well as TGAs are reported to occur following minor head trauma, the simultaneous occurrence of both is rather unusual and would support the fact that spreading depression is the main pathophysiological mechanism underlying TGAs as it is for migraines. We report an unusual case of migraine and TGA …

A New Self-Assessment Questionnaire To Assess Parkinsonism: A Cross-Sectional Study, Sohail Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

A composite scale for parkinsonism and Parkinson’s disease (PD) that incorporates multiple motor system symptoms and systemic complaints and their severity may help the busy clinician in documenting the severity and progression of common and bothersome symptoms. The objective of this study was to study a new scale, Parkinson’s Symptoms Questionnaire (PSQ), to assess and track progression of parkinsonism.

Methods:

This was a cross-sectional study that was conducted from August 2004 to December 2009 in a private clinic in State of Iowa, United States. We developed a new scale, PSQ, to assess common symptoms of …

Neuroimaging Of Tuberculosis- Modalities, Imaging Protocols And Radiomics: A Review, Shahmeer Khan, Muhammad Awais, Muhammad Azeemuddin, Ayesha Shoukat

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective:

A large number of review and research articles exists in literature which describe the radiological appearance of various manifestations of nervous system tuberculosis, however there is paucity of text which describes the application of each and every imaging modality in the workup of the entire spectrum of this pathology. The intent of this article is to review the existing literature on the role of different radiological modalities in the stepwise work up of CNS TB. The article focuses on the role of plain radiograph, fluoroscopy, computed tomography, magnetic resonance imaging along with its advanced sequences and nuclear …

Implementing In-House Compounding Of Nimodipine Oral Syringes For Aneurysmal Subarachnoid Hemorrhage Patients., Keaton S Smetana, Kerri J Wilcox, Aaron M Cook

Neuroscience Articles

No abstract provided.

Assessment Of Care-Arrangement Of People With Dementia In Karachi By 10/66 Protocol, Qurat Ul Ain Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective:

Pakistan is a low middle-income country (LMIC) in South Asia with a rising aging population. This study aimed to understand care-arrangement and resources of people with dementia (PWD) in Karachi, Pakistan.

Methods:

This cross-sectional mixed-method (qualitative and quantitative) study was carried out using 10/66 protocol for dementia patients. Data collection for the study was done from September 2016 till August 2017.This assessed characteristics of patients and caregivers, the economic impact of caregiving, and resources available to care for people with dementia (PWD).

Results:

One-hundred-nineteen PWD and their caregivers were included in the study. The average gross national …

Artificial Intelligence And Neurosurgery: A Revolution In The Field, Ahtesham Khizar

Pakistan Journal of Neurological Sciences (PJNS)

Artificial Intelligence (AI) is being used in the field of neurosurgery for improving patient outcomes, reducing the risk of complications, and increasing the efficiency of surgical procedures. AI algorithms can analyze patient data, plan surgical procedures, guide surgical instruments, monitor brain activity, and improve post-operative care. The benefits of incorporating AI into neurosurgical practice include pre-operative planning, intraoperative navigation, real-time monitoring, and post-operative care. AI is already being used in neurosurgery for image segmentation, surgical planning, intraoperative navigation, real-time monitoring, and predictive analytics. The potential applications of AI in neurosurgery include personalized medicine, virtual reality, robotic surgery, predictive analytics, and …

Evaluation Of Stroke Awareness And Risk Factor Prevalence Among Students At A Public Sector University In Quetta, Anjum Farooq, Muhammad Essa, Muhammad Saleem, Abdul Aleem, Muhammad Rizwan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Stroke is the leading cause of death and disability. Improving stroke knowledge among medical students will help to improve stroke care and its prevention. This study aims to evaluate the prevalence of risk factors and stroke awareness among university students.

Methods:

This cross-sectional study was conducted among students at Sardar Bahadur Khan Women's University in Quetta. An eleven-question multiple-choice survey was administered to assess participants' knowledge of stroke-related concepts. The initial study was conducted using descriptive statistics. Additionally, a supplementary screening for common risk factors linked to stroke was included in the study, which involved blood pressure, …

Frequency Of Risk Factors For Stroke In Young Pakistani Population, Faizan Aslam, Atif Maqsood, Adeel Rauf, Kashif Nawaz, Azam Aslam

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

There is paucity of data regarding risk factors of stroke in young Pakistanis. The objective of this study was to identify the frequency of risk factors for ischemic stroke in the young Pakistani population.

Methods:

This was a retrospective Cross sectional study conducted at Aziz Fatima Hospital Neurology outpatient’s department between January 2022 to April 2022. All patients presenting with an ischemic stroke within the past month and age between 20 and 49 years were included. Data was collected from patient notes using a table which listed the patient’s demographic information and risk factors. All the patients …

Brain-Wide Correspondence Of Neuronal Epigenomics And Distant Projections, Jingtian Zhou, Zhuzhu Zhang, May Wu, Hanqing Liu, Yan Pang, Anna Bartlett, Zihao Peng, Wubin Ding, Angeline Rivkin, Will N Lagos, Elora Williams, Cheng-Ta Lee, Paula Assakura Miyazaki, Andrew Aldridge, Qiurui Zeng, J L Angelo Salinda, Naomi Claffey, Michelle Liem, Conor Fitzpatrick, Lara Boggeman, Zizhen Yao, Kimberly A Smith, Bosiljka Tasic, Jordan Altshul, Mia A Kenworthy, Cynthia Valadon, Joseph R Nery, Rosa G Castanon, Neelakshi S Patne, Minh Vu, Mohammad Rashid, Matthew Jacobs, Tony Ito, Julia Osteen, Nora Emerson, Jasper Lee, Silvia Cho, Jon Rink, Hsiang-Hsuan Huang, António Pinto-Duartec, Bertha Dominguez, Jared B Smith, Carolyn O'Connor, Hongkui Zeng, Shengbo Chen, Kuo-Fen Lee, Eran A Mukamel, Xin Jin, M Margarita Behrens, Joseph R Ecker, Edward M Callaway

Faculty, Staff and Student Publications

Single-cell analyses parse the brain’s billions of neurons into thousands of ‘cell-type’ clusters residing in different brain structures1. Many cell types mediate their functions through targeted long-distance projections allowing interactions between specific cell types. Here we used epi-retro-seq2 to link single-cell epigenomes and cell types to long-distance projections for 33,034 neurons dissected from 32 different regions projecting to 24 different targets (225 source-to-target combinations) across the whole mouse brain. We highlight uses of these data for interrogating principles relating projection types to transcriptomics and epigenomics, and for addressing hypotheses about cell types and connections related to genetics. …

Child With Developmental Delay And Pathological Myopia: Poretti–Boltshauser Syndrome, Arshad Mehmood, Javeria Raza Alvi, Ahmad Bilal, Sameen Qureshi, Shaila Ali, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Poretti–Boltshauser syndrome is rare genetic disorder of brain malformation with ocular findings due to mutation in LAMA1 gene. We report a case of five years old girl who presented with high myopia, delayed language and motor development with otherwise normal neurological examination. Brain imaging findings were consistent of Poretti–Boltshauser syndrome with cerebellar dysplasia and cyst (CDC). However, cerebellar ataxia and retinopathy were not found in our index case.

In The Symphony Of Green Spaces,Brain And Its Thoughts Find The Healing Melody., Man Mohan Mehndiratta, Vasundhara Aggarwa, Nishant Tomar

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.