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Aga Khan University

2021

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Full-Text Articles in Medicine and Health Sciences

Factors Associated With Mammographic Breast Density Among Women In Karachi Pakistan, Uzma Shamsi, Shaista Afzal Saeed, Azra Shamsi, Syed Iqbal Azam, David Callen Dec 2021

Factors Associated With Mammographic Breast Density Among Women In Karachi Pakistan, Uzma Shamsi, Shaista Afzal Saeed, Azra Shamsi, Syed Iqbal Azam, David Callen

Community Health Sciences

Background: There are no studies done to evaluate the distribution of mammographic breast density and factors associated with it among Pakistani women.
Methods: Participants included 477 women, who had received either diagnostic or screening mammography at two hospitals in Karachi Pakistan. Mammographic breast density was assessed using the Breast Imaging Reporting and Data System. In person interviews were conducted using a detailed questionnaire, to assess risk factors of interest, and venous blood was collected to measure serum vitamin D level at the end of the interview. To determine the association of potential factors with mammographic breast density, multivariable polytomous logistic …


Biochemical Testing For The Diagnosis Of Wilson's Disease: A Systematic Review, Hafiz Muhammad Salman, Mahwish Amin, Javaria Syed, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Maria Jose Farfán Bajaña, Miguel Felix, Ivan Cherrez-Ojeda Dec 2021

Biochemical Testing For The Diagnosis Of Wilson's Disease: A Systematic Review, Hafiz Muhammad Salman, Mahwish Amin, Javaria Syed, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Maria Jose Farfán Bajaña, Miguel Felix, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

Background: Wilson's disease (WD) is a rare inherited disorder that leads to copper accumulation in the liver, brain, and other organs. WD is prevalent worldwide, with an occurrence of 1 per 30,000 live births. Currently, there is no gold standard diagnostic test for WD. The objective of this systematic review is to determine the diagnostic accuracy for WD of three biochemical tests, namely hepatic copper, 24-hour urinary copper, and ceruloplasmin using the Leipzig criteria.
Methods: Adhering to PRISMA guidelines, databases including PubMed/MEDLINE, CINAHL Plus, Web of Science, and Cochrane were searched. Studies that comprised of confirmed or suspected WD along …


Intensive Care Bundle With Blood Pressure Reduction In Acute Cerebral Hemorrhage Trial (Interact3): Study Protocol For A Pragmatic Stepped-Wedge Cluster-Randomized Controlled Trial, Lili Song, Xin Hu, Lu Ma, Xiaoying Chen, Menglu Ouyang, Laurent Billot, Qiang Li, Paula Muñoz-Venturelli, Carlos Abanto, Mohammad Wasay Dec 2021

Intensive Care Bundle With Blood Pressure Reduction In Acute Cerebral Hemorrhage Trial (Interact3): Study Protocol For A Pragmatic Stepped-Wedge Cluster-Randomized Controlled Trial, Lili Song, Xin Hu, Lu Ma, Xiaoying Chen, Menglu Ouyang, Laurent Billot, Qiang Li, Paula Muñoz-Venturelli, Carlos Abanto, Mohammad Wasay

Section of Neurology

Background: Early intensive blood pressure (BP) lowering remains the most promising treatment for acute intracerebral hemorrhage (ICH), despite discordant results between clinical trials and potential variation in the treatment effects by approach to control BP. As the third in a series of clinical trials on this topic, the INTEnsive care bundle with blood pressure Reduction in Acute Cerebral hemorrhage Trial (INTERACT3) aims to determine the effectiveness of a goal-directed care bundle protocol of early physiological control (intensive BP lowering, glycemic control, and pyrexia treatment) and reversal of anticoagulation, in acute ICH.
Methods: INTERACT3 is a pragmatic, international, multicenter, stepped-wedge (4 …


Does Digital Literacy Empower Adolescent Girls In Low- And Middle-Income Countries: A Systematic Review, Salima Meherali, Komal Abdul Rahim, Sandra Campbell, Zohra S. Lassi Dec 2021

Does Digital Literacy Empower Adolescent Girls In Low- And Middle-Income Countries: A Systematic Review, Salima Meherali, Komal Abdul Rahim, Sandra Campbell, Zohra S. Lassi

School of Nursing & Midwifery

Background: The vast majority (90%) of the world's adolescents aged 10-19 live in low- and middle-income countries (LMICs); and in those resource-limited settings, girls face distinct challenges across multiple health, social, and economic domains. Gender equality and girls' empowerment are key goals in their own right and are central to all other development goals. Digital literacy is a great enabler for the empowerment of young girls. This systematic review aims to assess the range and nature of digital literacy interventions implemented to empower adolescent girls in LMICs and identify evidence about adolescent girls' access and use of digital technologies in …


The Curious Case Of Hla-Dr-Positive Apl, Kanta Devi, Natasha Bahadur Ali Dec 2021

The Curious Case Of Hla-Dr-Positive Apl, Kanta Devi, Natasha Bahadur Ali

Section of Haematology/Oncology

The triad of weak/absent CD34, negative HLA-DR expression, and positivity to CD117 is pathognomonic for the diagnosis of acute promyelocytic leukemia. However, in rare cases, strong positivity to HLD-DR and CD34 may be noted.


Lipid A-Ara4n As An Alternate Pathway For (Colistin) Resistance In Klebsiella Pneumonia Isolates In Pakistan, Kiran I. Masood, Seema Umar, Zahra Hasan, Joveria Farooqi, Safina Abdul Razzak, Nazish Jabeen, Jason Rao Jason Rao, Sadia Shakoor, Rumina Hasan Dec 2021

Lipid A-Ara4n As An Alternate Pathway For (Colistin) Resistance In Klebsiella Pneumonia Isolates In Pakistan, Kiran I. Masood, Seema Umar, Zahra Hasan, Joveria Farooqi, Safina Abdul Razzak, Nazish Jabeen, Jason Rao Jason Rao, Sadia Shakoor, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objectives: This study aimed to explore mechanism of colistin resistance amongst Klebsiella pneumoniae isolates through plasmid mediated mcr-1 gene in Pakistan. Carbapenem and Colistin resistant K. pneumoniae isolates (n = 34) stored at - 80 °C as part of the Aga Khan University Clinical Laboratory strain bank were randomly selected and subjected to mcr-1 gene PCR. To investigate mechanisms of resistance, other than plasmid mediated mcr-1 gene, whole genome sequencing was performed on 8 clinical isolates, including 6 with colistin resistance (MIC > 4 μg/ml) and 2 with intermediate resistance to colistin (MIC > 2 μg/ml).
Results: RT-PCR conducted revealed absence of …


Combined Clinical Audits And Low-Dose, High-Frequency, In-Service Training Of Health Care Providers And Community Health Workers To Improve Maternal And Newborn Health In Mali: Protocol For A Pragmatic Cluster Randomized Trial, David Zombre, Jean-Luc Kortenaar, Farhana Zareef, Moussa Doumbia, Sekou Doumbia, Fadima Haidara, Katie Mclaughlin, Samba Sow, Zulfiqar Ahmed Bhutta, Diego G. Bassani Dec 2021

Combined Clinical Audits And Low-Dose, High-Frequency, In-Service Training Of Health Care Providers And Community Health Workers To Improve Maternal And Newborn Health In Mali: Protocol For A Pragmatic Cluster Randomized Trial, David Zombre, Jean-Luc Kortenaar, Farhana Zareef, Moussa Doumbia, Sekou Doumbia, Fadima Haidara, Katie Mclaughlin, Samba Sow, Zulfiqar Ahmed Bhutta, Diego G. Bassani

Centre of Excellence in Women and Child Health

Background: Although most births in Mali occur in health facilities, a substantial number of newborns still die during delivery and within the first 7 days of life, mainly because of existing training deficiencies and the challenges of maintaining intrapartum and postpartum care skills.
Objective: This trial aims to assess the effectiveness and cost-effectiveness of an intervention combining clinical audits and low-dose, high-frequency (LDHF) in-service training of health care providers and community health workers to reduce perinatal mortality.
Methods: The study is a three-arm cluster randomized controlled trial in the Koulikoro region in Mali. The units of randomization are each of …


Generating Evidence From Contextual Clinical Research In Low- To Middle Income Countries: A Roadmap Based On Theory Of Change, Babar Hasan, Muneera Rasheed, Asra Wahid, Raman Krishna Kumar, Liesl Zuhlke Dec 2021

Generating Evidence From Contextual Clinical Research In Low- To Middle Income Countries: A Roadmap Based On Theory Of Change, Babar Hasan, Muneera Rasheed, Asra Wahid, Raman Krishna Kumar, Liesl Zuhlke

Department of Paediatrics and Child Health

Along with inadequate access to high-quality care, competing health priorities, fragile health systems, and conflicts, there is an associated delay in evidence generation and research from LMICs. Lack of basic epidemiologic understanding of the disease burden in these regions poses a significant knowledge gap as solutions can only be developed and sustained if the scope of the problem is accurately defined. Congenital heart disease (CHD), for example, is the most common birth defect in children. The prevalence of CHD from 1990 to 2017 has progressively increased by 18.7% and more than 90% of children with CHD are born in Low …


Bile Acid Profiling Reveals Distinct Signatures In Undernourished Children With Environmental Enteric Dysfunction, Xueheng Zhao, Kenneth D R. Setchell, Rong Huang, Indika Mallawaarachchi, Lubaina Ehsan, Edward Dobrzykowski Iii, Junfang Zhao, Sana Syed, Najeeha Talat Iqbal, Junaid Iqbal, Kamran Sadiq, Sheraz Ahmed, Syed Asad Ali Dec 2021

Bile Acid Profiling Reveals Distinct Signatures In Undernourished Children With Environmental Enteric Dysfunction, Xueheng Zhao, Kenneth D R. Setchell, Rong Huang, Indika Mallawaarachchi, Lubaina Ehsan, Edward Dobrzykowski Iii, Junfang Zhao, Sana Syed, Najeeha Talat Iqbal, Junaid Iqbal, Kamran Sadiq, Sheraz Ahmed, Syed Asad Ali

Department of Paediatrics and Child Health

Background: Intestinal inflammation and malabsorption in environmental enteric dysfunction (EED) are associated with early childhood growth faltering in impoverished settings worldwide.
Objectives: The goal of this study was to identify candidate biomarkers associated with inflammation, EED histology, and as predictors of later growth outcomes by focusing on the liver-gut axis by investigating the bile acid metabolome.
Methods: Undernourished rural Pakistani infants (n = 365) with weight-for-height Z score (WHZ) < -2 were followed up to the age of 24 mo and monitored for growth, infections, and EED. Well-nourished local children (n = 51) were controls, based on consistent WHZ > 0 and height-for-age Z score (HAZ) > -1 on 2 consecutive visits at 3 and 6 mo. Serum bile acid (sBA) profiles were measured by tandem MS at the ages of 3-6 …


A Four-Component Framework Toward Patient-Centered, Integrated Mental Healthcare In Kenya, Manasi Kumar, Thomas L. Osborn, Cyrus Mugo, Hossein Akbarialiabad, Osman Warfa, Wangui Muthigani Mbuthia, Christine Wambugu, Carol Ngunu, Fatima Gohar, Shillah Mwaniga Dec 2021

A Four-Component Framework Toward Patient-Centered, Integrated Mental Healthcare In Kenya, Manasi Kumar, Thomas L. Osborn, Cyrus Mugo, Hossein Akbarialiabad, Osman Warfa, Wangui Muthigani Mbuthia, Christine Wambugu, Carol Ngunu, Fatima Gohar, Shillah Mwaniga

Brain and Mind Institute

Background: How can we fast-track the global agenda of integrated mental healthcare in low- and middle-income countries (LMICs) such as Kenya? This is a question that has become increasingly important for individuals with lived experiences, policymakers, mental health advocates and health care providers at the local and international levels.

Discussion: This narrative synthesis and perspective piece encompasses an overview of mental health care competencies, best practices and capacity building needed to fast track patient responsive services. In that vein we also review key policy developments like UHC to make a case for fast-tracking our four-step framework.

Results: While there is …


Depression And Its Associated Factors: Perceived Stress, Social Support, Substance Use And Related Sociodemographic Risk Factors In Medical School Residents In Nairobi, Kenya, Sayed Shah Nur Hussein Shah, Ahmed Laving, Violet Caroline Okech-Helu, Manasi Kumar Dec 2021

Depression And Its Associated Factors: Perceived Stress, Social Support, Substance Use And Related Sociodemographic Risk Factors In Medical School Residents In Nairobi, Kenya, Sayed Shah Nur Hussein Shah, Ahmed Laving, Violet Caroline Okech-Helu, Manasi Kumar

Brain and Mind Institute

Abstract: Background: Little data exists regarding depression and its associated factors in medical residents and doctors in Sub-Saharan Africa. Residents are at high risk of developing depression owing to the stressful nature of their medical practice and academic training. Depression in medical residents leads to decreased clinical efficiency, and poor academic performance; it can also lead to substance abuse and suicide. Our primary aim was to measure depression prevalence among medical residents in Kenya’s largest national teaching and referral hospital. Secondary aims were to describe how depression was associated with perceived stress, perceived social support, substance use, and educational environment. …


Mapping Services At Two Nairobi County Primary Health Facilities: Identifying Challenges And Opportunities In Integrated Mental Health Care As A Universal Health Coverage (Uhc) Priority, Manasi Kumar, Vincent Nyongesa, Martha Kagoya, Byamah B. Mutamba,, Beatrice Amugune, Neha S. Krishnam, Grace Nduku Wambua, Inge Petersen, Onesmus Gachuno, Shekhar Saxena Dec 2021

Mapping Services At Two Nairobi County Primary Health Facilities: Identifying Challenges And Opportunities In Integrated Mental Health Care As A Universal Health Coverage (Uhc) Priority, Manasi Kumar, Vincent Nyongesa, Martha Kagoya, Byamah B. Mutamba,, Beatrice Amugune, Neha S. Krishnam, Grace Nduku Wambua, Inge Petersen, Onesmus Gachuno, Shekhar Saxena

Brain and Mind Institute

Abstract: Introduction There is a need to scale-up mental health service provision in primary health care. The current extent of integration of mental health in primary care is pertinent to promoting and augmenting mental health at this level. We describe a facility mapping exercise conducted in two low-income/primary health facilities in Kenya to identify existing barriers and facilitators in the delivery of mental health services in general and specifically for peripartum adolescents in primary health care as well as available service resources, cadres, and developmental partners on the ground.

Method and measures This study utilized a qualitative evidence synthesis through …


Institute For Global Health And Development : Issue 1 - December 2021, Institute For Global Health And Development Dec 2021

Institute For Global Health And Development : Issue 1 - December 2021, Institute For Global Health And Development

IGHD Newsletter

• Climate Change and Environment Sustainability
• Agriculture, Food Security, and Nutrition
• Gender Equality and Women Empowerment
• Sustainable Development Goals


Inspire : Vol 4, Issue 12, Department Of Medicine Dec 2021

Inspire : Vol 4, Issue 12, Department Of Medicine

INSPIRE

Content

  • Message from the Chair
  • Medicine at National and International Forums
  • AACE Middle East Conference
  • In-depth- featuring Assistant Professor Yawer Saeed
  • Featured Faculty- Dr Syed Furrukh Omair “…if you want to be a learner, keep your head and heart clean and clear. Be receptive and positive in life…”
  • Faculty’s –Favorite poem
  • What are Academics Around the World Reading This Month?
  • Publications


Improving Stroke Unit Numbers And Care In Pakistan, Abubakar Siddique, Umair Rashid Ch, Ahsan Numan Dec 2021

Improving Stroke Unit Numbers And Care In Pakistan, Abubakar Siddique, Umair Rashid Ch, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

t is self-evident that stroke remains one of the leading causes of death and disability not only in the world but also in Pakistan. The prevalence of stroke risk factors and epidemiological studies shows that the burden of stroke will not decrease in the next decades and beyond. It poses a huge challenge for the affected and their families, for medical services, governments and the society as a whole. The promising thing about stroke is that it is preventable, treatable and manageable and there is potential to drastically reduce the burden of stroke and the long term consequences.1 However, this …


Evaluation Of A Two-Way Sms Messaging Strategy To Reduce Neonatal Mortality: Rationale, Design And Methods Of The Mobile Wach Neo Randomised Controlled Trial In Kenya, Keshet Ronen, Esther M. Choo, Brenda Wandika, Jenna L. Udren, Lusi Osborn, Peninah Kithao, Anna B. Hedstrom, Millicent Masinde, Manasi Kumar, Dalton C. Wamalwa Dec 2021

Evaluation Of A Two-Way Sms Messaging Strategy To Reduce Neonatal Mortality: Rationale, Design And Methods Of The Mobile Wach Neo Randomised Controlled Trial In Kenya, Keshet Ronen, Esther M. Choo, Brenda Wandika, Jenna L. Udren, Lusi Osborn, Peninah Kithao, Anna B. Hedstrom, Millicent Masinde, Manasi Kumar, Dalton C. Wamalwa

Brain and Mind Institute

Abstract: Introduction Globally, approximately half of the estimated 6.3 million under-5 deaths occur in the neonatal period (within the first 28 days of life). Kenya ranks among countries with the highest number of neonatal deaths, at 20 per 1000 live births. Improved identification and management of neonates with potentially life-threatening illness is critical to meet the WHO’s target of ≤12 neonatal deaths per 1000 live births by 2035. We developed an interactive (two-way) short messaging service (SMS) communication intervention, Mobile Solutions for Neonatal Health (Mobile women’s and children’s health (WACh) NEO), focused on the perinatal period. Mobile WACh NEO sends …


Routine Outcome Measurement In Adolescents Seeking Mental Health Services: Standardization Of Honosca In Kenyan Sample, Grace Nduku Wambua, Manasi Kumar, Fredrik Falkenström, Pim Cuijpers Dec 2021

Routine Outcome Measurement In Adolescents Seeking Mental Health Services: Standardization Of Honosca In Kenyan Sample, Grace Nduku Wambua, Manasi Kumar, Fredrik Falkenström, Pim Cuijpers

Brain and Mind Institute

Abstract: Background The evaluation of treatment outcomes is important for service providers to assess if there is improvement or not. The Health of the Nation Outcome Scales for Children and Adolescents (HoNOSCA) was developed for this use in child and adolescent mental health services. Outcome measurement in routine mental health services is limited. This paper evaluates the psychometric properties of the self and clinician rated versions of the HoNOSCA for routine use in child and adolescent mental health services in Kenya.

Methods Using a prospective design, the clinician- and self-rated versions of the HoNOSCA and the Paediatric Symptom Checklist (PSC) …


Mental Health Service Preferences Of Patients And Providers: A Scoping Review Of Conjoint Analysis And Discrete Choice Experiments From Global Public Health Literature Over The Last 20 Years (1999–2019), Anna Larsen, Albert Tele, Manasi Kumar Dec 2021

Mental Health Service Preferences Of Patients And Providers: A Scoping Review Of Conjoint Analysis And Discrete Choice Experiments From Global Public Health Literature Over The Last 20 Years (1999–2019), Anna Larsen, Albert Tele, Manasi Kumar

Brain and Mind Institute

Abstract: Background: In designing, adapting, and integrating mental health interventions, it is pertinent to understand patients’ needs and their own perceptions and values in receiving care. Conjoint analysis (CA) and discrete choice experiments (DCEs) are survey-based preference-elicitation approaches that, when applied to healthcare settings, offer opportunities to quantify and rank the healthcare-related choices of patients, providers, and other stakeholders. However, a knowledge gap exists in characterizing the extent to which DCEs/CA have been used in designing mental health services for patients and providers. Methods: We performed a scoping review from the past 20 years (2009–2019) to identify and describe applications …


Use Of Multidimensional Item Response Theory Methods For Dementia Prevalence Prediction: An Example Using The Health And Retirement Survey And The Aging, Demographics, And Memory Study, Manasi Kumar, Gbd 2019 Dementia Collaborators Dec 2021

Use Of Multidimensional Item Response Theory Methods For Dementia Prevalence Prediction: An Example Using The Health And Retirement Survey And The Aging, Demographics, And Memory Study, Manasi Kumar, Gbd 2019 Dementia Collaborators

Brain and Mind Institute

Abstract: Background: Data sparsity is a major limitation to estimating national and global dementia burden. Surveys with full diagnostic evaluations of dementia prevalence are prohibitively resource-intensive in many settings. However, validation samples from nationally representative surveys allow for the development of algorithms for the prediction of dementia prevalence nationally. Methods: Using cognitive testing data and data on functional limitations from Wave A (2001–2003) of the ADAMS study (n=744) and the 2000 wave of the HRS study (n=6358) we estimated a two-dimensional item response theory model to calculate cognition and function scores for all individuals over 70. Based on diagnostic information …


Long Covid, A Comprehensive Systematic Scoping Review, Hossein Akbarialiabad, Mohammad Hossein Taghrir, Ashkan Abdollahi, Nasrollah Ghahramani, Manasi Kumar, Shahram Paydar, Babak Razani, John Mwangi, Ali A. Asadi-Pooya, Leila Malekmakan Dec 2021

Long Covid, A Comprehensive Systematic Scoping Review, Hossein Akbarialiabad, Mohammad Hossein Taghrir, Ashkan Abdollahi, Nasrollah Ghahramani, Manasi Kumar, Shahram Paydar, Babak Razani, John Mwangi, Ali A. Asadi-Pooya, Leila Malekmakan

Brain and Mind Institute

Abstract: Purpose To fnd out what is known from literature about Long COVID until January 30, 2021. Methods We undertook a four-step search with no language restriction. A preliminary search was made to identify the keywords. A search strategy of all electronic databases resulted in 66 eligible studies. A forward and backward search of the references and citations resulted in additional 54 publications. Non-English language articles were translated using Google Translate. We conducted our scoping review based on the PRISMA-ScR Checklist. Results Of 120 papers, we found only one randomized clinical trial. Of the 67 original studies, 22 were cohort, …


Neonatal Outcomes And Congenital Anomalies In Pregnancies Affected By Hypothyroidism, Zareen Kiran,, Aisha Sheikh, Khadija N Humayun, Najmul Islam Dec 2021

Neonatal Outcomes And Congenital Anomalies In Pregnancies Affected By Hypothyroidism, Zareen Kiran,, Aisha Sheikh, Khadija N Humayun, Najmul Islam

Section of Diabetes, Endocrinology and Metabolism

Background: Maternal hypothyroidism has been reported to have concerns over neonatal outcomes, not only in the context of neurocognitive development but also in the short term as birth weight and neonatal jaundice.
Patients and methods: We conducted a cross-sectional retrospective study on 638 cases who delivered live births in the Aga Khan University Hospital after ethical approval. Data were collected on hypothyroid pregnant females who were diagnosed before conception or during their antenatal visits during the year 2008-2016. Neonatal outcomes were noted for birth weight, maturity, and neonatal jaundice, neonatal hypothyroidism, neonatal respiratory distress syndrome, sepsis, hypocalcaemia, congenital anomalies, need …


Artificial Intelligence And Neurology - Opportunities And Challenges In Pakistan, Adeel A. Memon, Junaid S. Kalia Dec 2021

Artificial Intelligence And Neurology - Opportunities And Challenges In Pakistan, Adeel A. Memon, Junaid S. Kalia

Pakistan Journal of Neurological Sciences (PJNS)

The field of artificial intelligence (AI) has undergone rapid development in neurological disorders over the past few decades. AI relies on large volumes of high-quality data. As a result, their use in low-resource settings has been limited due to the lack of a digitized health care system. This article will address the challenges and opportunities involved in implementing AI for neurological care in Pakistan, as well as discuss the types of digital health care data and the benefits of applying AI in resource-limited countries


The Truth About Brain Cells: Is Adult Neurogenesis Possible?, Ekene Nnagha, Queen-Helen Egbai, Ahtesham Khizar Dec 2021

The Truth About Brain Cells: Is Adult Neurogenesis Possible?, Ekene Nnagha, Queen-Helen Egbai, Ahtesham Khizar

Pakistan Journal of Neurological Sciences (PJNS)

Brain cells regeneration involves renewal and repair of neurons and other cells in the brain, with restoration of their functions. Although this phenomenon was thought to end in early childhood, research has proven that adult neurogenesis is highly possible with some limitations. Regeneration of axons in the central nervous system is very slow and more complicated than neuronal regeneration, especially regeneration of peripheral nerves. Brain cell regeneration in the adult brain can help in recovery of damaged brain cells and correct cellular and brain tissue dysfunction that are commonly seen in some neurological disorders such as Stroke, Traumatic Brain Injury …


Pseudo-Torch- A Rare Mutation Causing Global Development Delay, Microcephaly And Extensive Band Like Brain Calcification, Javeria Raza Alvi, Saher Gul Ahdi, Mahrukh Sultan, Tipu Sultan Dec 2021

Pseudo-Torch- A Rare Mutation Causing Global Development Delay, Microcephaly And Extensive Band Like Brain Calcification, Javeria Raza Alvi, Saher Gul Ahdi, Mahrukh Sultan, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Pseudo-TORCH 1 syndrome is an inherited autosomal recessive disorder that clinically and radiologically mimic congenital TORCH infection. We report a case of three and half years old child who presented with early infantile seizures, progressive microcephaly, facial dysmorphism and global developmental delay. There were symmetrical band like intra-parenchymal calcification as well as in pons and thalami. Serological testing for infectious agents was negative. His Whole exome sequencing revealed OCLN gene mutation consistent with Pseudo-TORCH syndrome-1.


A Rare Case Of Epilepsia Partialis Continua Secondary To Rasmussen’S Encephalitis, Waleed Shahzad, Muhammad Hassan, Haris Majid Rajput, Tehmina Inayat, Naveed Ullah Khan, Mazhar Badshah Dec 2021

A Rare Case Of Epilepsia Partialis Continua Secondary To Rasmussen’S Encephalitis, Waleed Shahzad, Muhammad Hassan, Haris Majid Rajput, Tehmina Inayat, Naveed Ullah Khan, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Rasmussen's encephalitis is a rare baffling disorder seen in nearly 1 % to 2 % of epilepsy population and in 7.4% of paediatric population. It is mostly seen in children and in most cases seizures are seen during 14 months to 14 years with peak age 3 to 6 years. Etiology includes viral infections, humoral autoimmunity and T-cell mediated cyto-toxicity of the brain tissue. The main clinical features are intractable epilepsy, hemiparesis, hemidystonia, hemiathetosis, epilepsia-partialis-continua and mental decline. Imaging shows unilateral hemispheric brain atrophy. Here we describe a unique case of a 15-year-old Pakistani girl with severe immune mediated brain …


A Rare Case Of Epilepsia Partialis Continua Secondary To Rasmussen’S Encephalitis, Waleed Shahzad, Muhammad Hassan, Haris Majid Rajput, Tehmina Inayat, Naveed Ullah Khan, Mazhar Badshah Dec 2021

A Rare Case Of Epilepsia Partialis Continua Secondary To Rasmussen’S Encephalitis, Waleed Shahzad, Muhammad Hassan, Haris Majid Rajput, Tehmina Inayat, Naveed Ullah Khan, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Rasmussen's encephalitis is a rare baffling disorder seen in nearly 1 % to 2 % of epilepsy population and in 7.4% of paediatric population. It is mostly seen in children and in most cases seizures are seen during 14 months to 14 years with peak age 3 to 6 years. Etiology includes viral infections, humoral autoimmunity and T-cell mediated cyto-toxicity of the brain tissue. The main clinical features are intractable epilepsy, hemiparesis, hemidystonia, hemiathetosis, epilepsia-partialis-continua and mental decline. Imaging shows unilateral hemispheric brain atrophy. Here we describe a unique case of a 15-year-old Pakistani girl with severe immune mediated brain …


Guillain–Barré Syndrome In Sars-Cov-2; A Case Report, Naveed Ullah Khan, Muhammad Hassan, Haris Majid Rajput, Waleed Shahzad, Hafsa Mobeen, Mazhar Badshah Dec 2021

Guillain–Barré Syndrome In Sars-Cov-2; A Case Report, Naveed Ullah Khan, Muhammad Hassan, Haris Majid Rajput, Waleed Shahzad, Hafsa Mobeen, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Multiple systems have been affected by COVID-19 infection, and neurological symptoms are not uncommon. A 45-year-old male presented to us in the emergency department without focal neurological deficits. He developed ascending paralysis soon after his admission, which was followed by worsening respiratory symptoms. The family of the patient refused a lumbar puncture, and his NCS/EMG showed features of acute motor axonal neuropathy (AMAN), a variant of Guillain-Barré syndrome (GBS). After being admitted on the 4th day, the patient developed type 2 respiratory failure and died on the 5th day of admission before any treatment could be started. Patients with COVID-19 …


The Constellation Of Centronuclear Myopathy And Craniofacial Dysmorphism, Mahnoor Hafeez Dec 2021

The Constellation Of Centronuclear Myopathy And Craniofacial Dysmorphism, Mahnoor Hafeez

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT:

A 20 years old third-year MBBS female student from Dow Medical College in 2008 presented to the Neurology Dept. in Karachi with a short history of rapidly worsening bilateral lower limb weakness for 6 months. There was facial dysmorphism. Motor neuron disease was the suspicion; EMG/NCS study revealed non inflammatory myopathic process involving all limb muscles; Centro nuclear myopathy (CNM) was diagnosed via muscle biopsy. CNM is a group of congenital myopathies, where cell nuclei are abnormally located in skeletal muscle cells. Craniofacial dysmorphism is characterized by abnormal development of facial and skull structures. To the best of the …


Clinical Spectrum And Eeg Findings Of Non-Convulsive Status Epilepticus In Children, Shaila Ali, Natasha Ghani, Ather Khalily, Zia-Ur- Rehman, Tipu Sultan Dec 2021

Clinical Spectrum And Eeg Findings Of Non-Convulsive Status Epilepticus In Children, Shaila Ali, Natasha Ghani, Ather Khalily, Zia-Ur- Rehman, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

OBJECTIVE:

To determine the clinical spectrum and EEG findings ofnon-convulsive status epilepticus in children. METHODS: A total of 38 children were included in this prospective cross sectional study, having EEG suggestive of NCSE after taking informed consent from guardians, keeping EEG as gold standard tracings were reviewed according to criteria of non-convulsive status epilepticus. Their clinical features were also noted leading to non- convulsive status epilepticus. Diagnostic workup will be done to find out the underlying cause, according to the suspected etiology of non-convulsive status epilepticus.

RESULTS: There were 26 male and 12 female patients, with ratio of 2:1. …


Neurological Syndromes After Recent Covid-19 Vaccination; A Possible Association, Ayisha Farooq Khan, Sajid Hameed, Sara Khan, Mohammad Wasay Dec 2021

Neurological Syndromes After Recent Covid-19 Vaccination; A Possible Association, Ayisha Farooq Khan, Sajid Hameed, Sara Khan, Mohammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT OBJECTIVE:

Coronavirus disease 2019 (COVID-19) pandemic is one of the deadliest pandemics of our time. Vaccines are our best hope to put an end to this pandemic. An emergency use authorization (EUA) has been given to seven vaccines and more than 4 billion doses have been globally administered. Because of EUA, the large-scale safety trials were not conducted before their use and adverse effects were one of the chief concerns resulting in vaccine hesitancy.

METHODS: This is a retrospective observational study. All the inpatients admitted to the Department of Neurology, Aga Khan University during the period from 1st April …