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Full-Text Articles in Neurology

Utility Of The 3di Short Version In The Identification And Diagnosis Of Autism In Children At The Kenyan Coast., Patricia Kipkemoi, Symon Kariuki, Joseph Gona, Felicita Wangeci Mwangi, Martha Kombe, Collins Kipkoech, Paul Mwangi, William Mandy, Amina Abubakar, Charles Newton Feb 2024

Utility Of The 3di Short Version In The Identification And Diagnosis Of Autism In Children At The Kenyan Coast., Patricia Kipkemoi, Symon Kariuki, Joseph Gona, Felicita Wangeci Mwangi, Martha Kombe, Collins Kipkoech, Paul Mwangi, William Mandy, Amina Abubakar, Charles Newton

Institute for Human Development

Introduction: The precise epidemiological burden of autism is unknown because of the limited capacity to identify and diagnose the disorder in resource-constrained settings, related in part to a lack of appropriate standardised assessment tools and health care experts. We assessed the reliability, validity, and diagnostic accuracy of the Developmental Diagnostic Dimensional Interview (3Di) in a rural setting on the Kenyan coast.

Methods: Using a large community survey of neurodevelopmental disorders (NDDs), we administered the 3Di to 2,110 children aged between 6 years and 9 years who screened positive or negative for any NDD and selected 242 who had specific symptoms …


Emerging Stroke Risk Factors: A Focus On Infectious And Environmental Determinants, Sajid Hameed, Nurose Karim, Mohammad Wasay, Narayanaswamy Venketasubramanian Jan 2024

Emerging Stroke Risk Factors: A Focus On Infectious And Environmental Determinants, Sajid Hameed, Nurose Karim, Mohammad Wasay, Narayanaswamy Venketasubramanian

Section of Neurology

This review focuses on emerging risk factors for stroke, including air pollution and climate change, gut microbiota, high altitude, and systemic infection. Up to 14% of all stroke-associated mortality is attributed to air pollution and is more pronounced in developing countries. Fine particulate matter and other air pollutants contribute to an increased stroke risk, and this risk appears to increase with higher levels and duration of exposure. Short term air pollution exposure has also been reported to increase the stroke risk. The gut microbiota is a complex ecosystem of bacteria and other microorganisms that reside in the digestive system and …


In The Symphony Of Green Spaces,Brain And Its Thoughts Find The Healing Melody., Man Mohan Mehndiratta, Vasundhara Aggarwa, Nishant Tomar Dec 2023

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.


Artificial Intelligence And Neurosurgery: A Revolution In The Field, Ahtesham Khizar Dec 2023

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 …


A Rare Presentation Of Wilson Disease: A Case Report, Soban Khan, Zaid Waqar, Haris Majid, Ahmed Farhan, Shajee Siddique Dec 2023

A Rare Presentation Of Wilson Disease: A Case Report, Soban Khan, Zaid Waqar, Haris Majid, Ahmed Farhan, Shajee Siddique

Pakistan Journal of Neurological Sciences (PJNS)

Wilson Disease results from autosomal recessive mutation in ATP7B gene which leads to reduced formation of ceruloplasmin protein in the body that acts as a copper transporter. Due to its deficiency, there is the build-up of copper in the liver and brain among other organ systems and it leads to the development of various clinical abnormalities but commonly presents either as hepatic dysfunction and/or cirrhosis in young patients with movement disorder. Here we present a case that presented with hypoglycemia and hypothermia in absence of any infection, drug abuse or metabolic abnormality. He was later diagnosed as Wilson disease. Wilson …


Cerebellar Symptoms After Dengue Fever With Bright Middle Cerebellar Peduncle Sign, Soban Khan, Zaid Waqar, Zakir Jan, Muhammad Tariq Dec 2023

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.


Child With Developmental Delay And Pathological Myopia: Poretti–Boltshauser Syndrome, Arshad Mehmood, Javeria Raza Alvi, Ahmad Bilal, Sameen Qureshi, Shaila Ali, Tipu Sultan Dec 2023

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.


Co-Occurrence Of Recurrent Migrainous Headaches And Transient Global Amnesia Following Minor Head Trauma: A Case Report, Aziz Badruddin Sonawalla, Saadia Arshad, Shafaq Saleem Dec 2023

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 …


Neuroimaging Of Tuberculosis- Modalities, Imaging Protocols And Radiomics: A Review, Shahmeer Khan, Muhammad Awais, Muhammad Azeemuddin, Ayesha Shoukat Dec 2023

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 …


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 Dec 2023

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 …


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 Dec 2023

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 Dec 2023

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 …


A New Self-Assessment Questionnaire To Assess Parkinsonism: A Cross-Sectional Study, Sohail Khan Dec 2023

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 …


Assessment Of Care-Arrangement Of People With Dementia In Karachi By 10/66 Protocol, Qurat Ul Ain Khan Dec 2023

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 …


Normative Spatiotemporal Fetal Brain Maturation With Satisfactory Development At 2 Years, Ana I. L. Namburete, Bartłomiej W. Papież, Michelle Fernandes, Madeleine K. Wyburd, Linde S. Hesse, Felipe A. Moser, Leila Cheikh Ismail, Robert B. Gunier, Waney Squier, Maria Carvalho Oct 2023

Normative Spatiotemporal Fetal Brain Maturation With Satisfactory Development At 2 Years, Ana I. L. Namburete, Bartłomiej W. Papież, Michelle Fernandes, Madeleine K. Wyburd, Linde S. Hesse, Felipe A. Moser, Leila Cheikh Ismail, Robert B. Gunier, Waney Squier, Maria Carvalho

Obstetrics and Gynaecology, East Africa

Maturation of the human fetal brain should follow precisely scheduled structural growth and folding of the cerebral cortex for optimal postnatal function1 . We present a normative digital atlas of fetal brain maturation based on a prospective international cohort of healthy pregnant women2 , selected using World Health Organization recommendations for growth standards3 . Their fetuses were accurately dated in the first trimester, with satisfactory growth and neurodevelopment from early pregnancy to 2 years of age4,5 . The atlas was produced using 1,059 optimal quality, three dimensional ultrasound brain volumes from 899 of the fetuses and an automated analysis pipeline6–8 …


Unveiling The Potential Application Of Intraoperative Brain Smear For Brain Tumor Diagnosis In Low-Middle-Income Countries: A Comprehensive Systematic Review, Muhammad Shakir, Ahmed Altaf, Hawra Hussain, Syed Muhammad Aqeel Abidi, Zoey Petitt, Mahnoor Tariq, Ahmed Gilani, Syed Ather Enam Sep 2023

Unveiling The Potential Application Of Intraoperative Brain Smear For Brain Tumor Diagnosis In Low-Middle-Income Countries: A Comprehensive Systematic Review, Muhammad Shakir, Ahmed Altaf, Hawra Hussain, Syed Muhammad Aqeel Abidi, Zoey Petitt, Mahnoor Tariq, Ahmed Gilani, Syed Ather Enam

Section of Neurosurgery

Background: Immediate intraoperative histopathological examination of tumor tissue is indispensable for a neurosurgeon to track surgical resection. A brain smear is a simple, rapid, and cost-effective technique, particularly important in the diagnosis of brain tumors. The study aims to determine the effectiveness of intraoperative brain smear in the diagnosis of brain tumors in low- and middle-income countries (LMICs), while also evaluating its sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and overall accuracy.
Methods: A comprehensive search of the literature was conducted using PubMed, Scopus, and Google Scholar. The retrieved articles were independently screened by two reviewers. The …


Prevalence Of Stress Among The Healthcare Providers In A Tertiary Care Hospital In Karachi, Saba Zaidi, Syeda Areeba Tabassum Sep 2023

Prevalence Of Stress Among The Healthcare Providers In A Tertiary Care Hospital In Karachi, Saba Zaidi, Syeda Areeba Tabassum

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective: Healthcare workers are considered high risk for stress. This study aimed to study the prevalence of stress among the health care providers in a tertiary care hospital in Karachi.

Methods: A cross-sectional study was conducted at Liaquat National Hospital from July to December 2021. All healthcare workers in the vicinity of the hospital including doctors, nurses, allied health specialists, and other healthcare professionals who provide hands-on patient care were included in the study. Data was collected through a pre-designed questionnaire GHQ-12; related to stress symptoms and their impact on daily routine activities. It was in a Google …


Psychiatric Comorbidity In People With Epilepsy, Bushra Khalid, Zaid Waqar, Zakir Jan, Soban Khan, Amina Saddiqa, Anum Irfan, Waleed Malik, Samer Naik, Naheed Afzal, Hira Abbasi Sep 2023

Psychiatric Comorbidity In People With Epilepsy, Bushra Khalid, Zaid Waqar, Zakir Jan, Soban Khan, Amina Saddiqa, Anum Irfan, Waleed Malik, Samer Naik, Naheed Afzal, Hira Abbasi

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective: People with epilepsy often experience psychiatric comorbidity. This study aims to investigate the relationship among seizure regulation, psychiatric comorbidity, and antiepileptic drug use in a group of individuals with epilepsy in Pakistan.

Methods: This is an observational study conducted at Pakistan Institute of Medical Sciences, over a period of six months (1st June – 31st Dec 2022). One-hundred-twenty people (sample size) with epilepsy above the age of 18 with confirmed diagnosis of epilepsy were included in the study who completed a questionnaire that assessed their seizure control, psychiatric comorbidity, and antiepileptic drug use. Data was analyzed using …


A Comprehensive Electroencephalogram Audit In A Tertiary Care Center In Pakistan: Demographic Distribution, Referral Indications And Findings, Hina Imtiaz, Ayisha Farooq Khan, Dureshahwar Kanwar, Naima Javed, Sara Khan Sep 2023

A Comprehensive Electroencephalogram Audit In A Tertiary Care Center In Pakistan: Demographic Distribution, Referral Indications And Findings, Hina Imtiaz, Ayisha Farooq Khan, Dureshahwar Kanwar, Naima Javed, Sara Khan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective: Electroencephalography (EEG) is a widely employed non-invasive technique for recording brain electrical activity, pivotal for diagnosing various neurological conditions. The study aims to provide insight into demographic distribution, referral indications, and EEG findings in a tertiary care hospital in Pakistan.

Methods: A retrospective cross-sectional analysis was conducted involving 2,924 patients who underwent routine EEG evaluations over a three-year period. Data was collected from the EEG records after approval from the ethical review committee. Demographic variables, referral reasons, and EEG findings were recorded and analyzed using descriptive statistics.

Results: The study revealed a gender distribution of 41.35 % …


Factors Influencing The Headaches And Their Impact On Daily Life Of Medical Students, Saba Zaidi, Ayesha Abdul Samad Sep 2023

Factors Influencing The Headaches And Their Impact On Daily Life Of Medical Students, Saba Zaidi, Ayesha Abdul Samad

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Medical students are considered high risk for headaches due to various triggers in their daily routine. The objective of this study was to assess the factors influencing headaches and their impact on the daily life of medical students.

Methods: This cross-sectional study utilized a sample of 242 participants who were selected through a convenient method of sampling. Data was collected from medical students of Liaquat National Medical College for a period of six months (January to June 2021). Data was gathered using pre-designed questionnaires that assessed demographic information, lifestyle factors (such as consumption of tea, coffee, and …


Factors Associated With Dropout From Outpatient Tertiary Mental Health Services, Nasir Mahmood, Uroosa Talib Sep 2023

Factors Associated With Dropout From Outpatient Tertiary Mental Health Services, Nasir Mahmood, Uroosa Talib

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: There is a paucity of mental health hospital-based studies from Pakistan that have observed the contributing factors of dropout. This study aims to understand contributing factors to dropouts from mental health services.

Method: This telephonic survey was conducted as a cross-sectional study from dropout outpatients of Karwan-e-Hayat Institute for Mental Health Care, a tertiary mental care hospital in Karachi, Pakistan. Using a simple questionnaire to assess socio-demographic variables, psychosocial assessment, and patient perspectives on treatment termination. A total of 158 participants out of 200 patients provided insight into their dropout experiences.

Result: Results revealed that younger adults, …


Neuro-Palliative Medicine, Shazia Faiz Sep 2023

Neuro-Palliative Medicine, Shazia Faiz

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Cyclic Alternating Pattern Of Encephalopathy (Cape) In Cns Infection: A Case Report, Zaid Waqar, Soban Khan, Maryam Khalil, Bushra Khalid, Zakir Jan, Muhammad Adil, Amina Saddiqa Sep 2023

Cyclic Alternating Pattern Of Encephalopathy (Cape) In Cns Infection: A Case Report, Zaid Waqar, Soban Khan, Maryam Khalil, Bushra Khalid, Zakir Jan, Muhammad Adil, Amina Saddiqa

Pakistan Journal of Neurological Sciences (PJNS)

Cyclic Alternating Pattern of Encephalopathy (CAPE) is rare EEG phenomenon first described in 1944 in a comatose patient. It is similar to sleep EEG pattern of cyclic alternating pattern (CAP) which is a periodic electroencephalogram activity of non-REM sleep. The cyclic alternating pattern (CAP) is defined by sequences of transient electrocortical events that are different from the tonic background and repeat at intervals of up to one minute. CAPE, however, is abnormal EEG pattern. In this pattern of EEG abnormality slow wave activity of 1-2Hz alternates with fast activity of 6-10 hertz. Here we present a case of patient with …


Anti-Caspr 2 Antibody Encephalitis: A Case Report, Maryam Khalil, Zaid Waqar, Hira Badar Abbasi, Amina Saddiqa, Bushra Khalid, Soban Khan Sep 2023

Anti-Caspr 2 Antibody Encephalitis: A Case Report, Maryam Khalil, Zaid Waqar, Hira Badar Abbasi, Amina Saddiqa, Bushra Khalid, Soban Khan

Pakistan Journal of Neurological Sciences (PJNS)

Encephalitis is a term denoted to Inflammation in the brain which can be due to infection, autoimmunity, or can be a part of a paraneoplastic phenomenon with malignancy. Anti-CASPR 2 antibody encephalitis is a rare form of encephalitis that can be associated with malignancy, paraneoplastic phenomenon or can be an autoimmune disease. We present a case of a young boy who presented with new onset seizures and altered sensorium and was diagnosed with anti-CASPR 2 antibody encephalitis. Anti-CASPR 2 Antibody Encephalitis is a rare form of encephalitis which due to its great diverse presentation should be kept in the differential …


Primary Angiitis Of The Central Nervous System Presenting As Sudden Vision Loss In A Young Patient, Ayisha Farooq Khan, Lubna Jafri, Saad Shafqat Sep 2023

Primary Angiitis Of The Central Nervous System Presenting As Sudden Vision Loss In A Young Patient, Ayisha Farooq Khan, Lubna Jafri, Saad Shafqat

Pakistan Journal of Neurological Sciences (PJNS)

Primary angiitis of the central nervous system is a rare disorder that primarily affects the cerebral vessels and can prove to be a diagnostic challenge to the clinicians. It can present with a variety of clinical manifestations and lacks the evidence of any systemic disease. Digital subtraction angiography is often necessary to confirm the diagnosis of cerebral vasculitis but in cases where it may fail to do so, brain biopsy is eventually required. Obliviousness to this condition may lead to false management strategies and hence it is imperative to make an accurate diagnosis to facilitate proper treatment that mainly includes …


Ataxic Variant Of Guillain Barre Syndrome: A Case Report, Haris Majid Rajput, Malik Muhammad Adil, Maryam Khalil, Nayab Aslam, Zaid Waqar Sep 2023

Ataxic Variant Of Guillain Barre Syndrome: A Case Report, Haris Majid Rajput, Malik Muhammad Adil, Maryam Khalil, Nayab Aslam, Zaid Waqar

Pakistan Journal of Neurological Sciences (PJNS)

A 17-year-old girl was admitted after acute onset of unsteady gait succeeding acute gastroenteritis. Neurological examination reported normal power in all four limbs, impaired finger-nose, heel-shin tests, areflexia and ataxic gait. We eliminated other diseases with cerebellar symptoms; for example, Wernicke encephalopathy, multiple sclerosis, cerebellar vascular disease , encephalitis in the brain stem and cerebellum. Blood serum collected from the patient during the acute phase showed no anti-ganglioside antibodies. As the patient presented with evident cerebellar ataxia without muscle weakness, ophthalmoplegia or proprioceptive sensory disruption a diagnosis of ataxic form of Guillain-Barré syndrome (GBS) after nerve conduction studies. Though ataxic …


Phenotype And Genetic Analysis Of Data Collected Within The First Year Of Neurodev, Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, Emily O’Heir, Jake Allen, Christina Austin-Tse, Samantha Baxter, Amina Abubakar, Charles Newton, Alicia Martin Jul 2023

Phenotype And Genetic Analysis Of Data Collected Within The First Year Of Neurodev, Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, Emily O’Heir, Jake Allen, Christina Austin-Tse, Samantha Baxter, Amina Abubakar, Charles Newton, Alicia Martin

Institute for Human Development

Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev’s first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing …


Cerebellar Manifestation Secondary To Rectal Neoplasia, Soban Khan, Zaid Waqar, Maryam Khalil, Bushra Khalid, Sajid Ali, Ijaz Ali, Muhammad Tariq, Muhammad Adil Jun 2023

Cerebellar Manifestation Secondary To Rectal Neoplasia, Soban Khan, Zaid Waqar, Maryam Khalil, Bushra Khalid, Sajid Ali, Ijaz Ali, Muhammad Tariq, Muhammad Adil

Pakistan Journal of Neurological Sciences (PJNS)

The condition known as paraneoplastic cerebellar degeneration (PCD) is among the most disabling examples of a cancer's remote effects. Serology for paraneoplastic antibodies, clinical suspicion, and a targeted search for malignancy all play a role in the diagnosis. Tests for neuronal autoantibodies aid in diagnosis and point the way for the search for malignancy. Unfortunately, even with an early diagnosis, existing therapeutic approaches only have little success. Here we present the case of a young male who developed cerebellar syndrome secondary to rectal neoplasia.


Intravenous Thrombolytic Therapies In The Management Of Unknown Onset And Wakeup Strokes: A Scoping Review, Saima Nazish Jun 2023

Intravenous Thrombolytic Therapies In The Management Of Unknown Onset And Wakeup Strokes: A Scoping Review, Saima Nazish

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background: The efficacy and safety of intravenous recombinant tissue plasminogen activator (IV rt-PA) for the management of unknown time onset stroke (UTOS) and wake-up stroke (WUS) are in a debate. Objective:The objective of this review is to discuss the UTOS and its management with intravenous thrombolytic therapies. Data Sources: Databases searched included PubMed and Cochrane electronic databases and manual search. Study Selection and Data Extraction: 45 articles of potential relevance were selected. Results: 14 relevant papers were included. Most of studies including recent trials using Magnetic resonance imaging diffusion-weighted imaging fluid-attenuated inversion recovery (MRIDWI FLAIR) mismatch or Computed tomography …


Association Of Hyperuricemia With Ischemic Stroke In Adult Population, Ijaz Ali, Zaid Waqar, Bushra Khalid, Maryam Naseem, Soban Khan, Sajid Ali, Muhammad Tariq, Muhammad Adil, Hira Badar Abbasi, Mazhar Badshah Jun 2023

Association Of Hyperuricemia With Ischemic Stroke In Adult Population, Ijaz Ali, Zaid Waqar, Bushra Khalid, Maryam Naseem, Soban Khan, Sajid Ali, Muhammad Tariq, Muhammad Adil, Hira Badar Abbasi, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Stroke is the second most prevalent cause of dementia, the third biggest cause of mortality, and the top cause of disability globally. Hyperuricemia is frequently seen in patients with vascular risk factors. The objective of this study was to determine the association of hyperuricemia with ischemic stroke in adult patients presenting to neurology department of a tertiary care hospital.

Methods:This was a case-control study of 200 patients, 100 patients with stroke and 100 unmatched controls were accessed for vascular risk factors and hyperuricemia. The setting was Pakistan Institute of Medical Sciences, Islamabad and study duration was …