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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 …


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 …


Frequency And Types Of Cerebral Infarctions On Brain Imaging In 2257 Hospitalized Patients With Covid-19, Raima Kaleemi, Zainab Rauf, Muhammad Azeemuddin, Muhammad Wasay Dec 2021

Frequency And Types Of Cerebral Infarctions On Brain Imaging In 2257 Hospitalized Patients With Covid-19, Raima Kaleemi, Zainab Rauf, Muhammad Azeemuddin, Muhammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT BACKGROUND AND OBJECTIVE:

SARS-COV (COVID-19) virus is not solely a pulmonary disease but affect multiorgan system including the brain. The objective of this study was to see the frequency of neuroimaging findings especially cerebral infarcts in our covid population. METHODS: This study is a retrospective observational study conducted in a large tertiary care hospital which was also a Covid center from March 1, 2020 to December 30, 2020.The frequency of neurological manifestations in COVID19 positive patients admitting in the hospital was observed through charts review. All scans were reviewed by two trained neuroradiologists. RESULTS: Total of 2257 patients enrolled …


Dextromethorphan-Quinidine Is Helpful For Pseudobulbar Affect Disorder In Stroke Patients, Michael Francis, Mira Hamame, Md, Mariam Nasrallah, Md, Alison Nesbitt, Do, James Peter Meza, Md, Phd Nov 2021

Dextromethorphan-Quinidine Is Helpful For Pseudobulbar Affect Disorder In Stroke Patients, Michael Francis, Mira Hamame, Md, Mariam Nasrallah, Md, Alison Nesbitt, Do, James Peter Meza, Md, Phd

Clinical Research in Practice: The Journal of Team Hippocrates

An informed consent article using

Hammond FM, Alexander DN, Cutler AJ, et al. PRISM II: an open-label study to assess effectiveness of dextromethorphan/quinidine for pseudobulbar affect in patients with dementia, stroke or traumatic brain injury. BMC Neurology. 2016;16:89. https://doi.org/10.1186/s12883-016-0609-0

for a patient with pseudobulbar affect following stroke


In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones Oct 2021

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.


Conference Proceedings: Select Abstracts Presented At 2021 Advocate Aurora Health Scientific Day Oct 2021

Conference Proceedings: Select Abstracts Presented At 2021 Advocate Aurora Health Scientific Day

Journal of Patient-Centered Research and Reviews

Abstracts published within this supplement were presented at the 47th annual Advocate Aurora Health Scientific Day, held virtually on May 26, 2021. This research symposium provides a forum for disseminating results from studies conducted by faculty, fellows, residents, and other allied health professionals associated with Midwest-based health system Advocate Aurora Health, which publishes the Journal of Patient-Centered Research and Reviews.


The Efficacy Of A Sumatriptan And Naproxen Combination Pill In A Patient With Chronic Migraines Who Discontinued Triptan Therapy In The Past Due To A Self-Reported Poor Response To Sumatriptan Monotherapy, Ethan M. Cohen Oct 2021

The Efficacy Of A Sumatriptan And Naproxen Combination Pill In A Patient With Chronic Migraines Who Discontinued Triptan Therapy In The Past Due To A Self-Reported Poor Response To Sumatriptan Monotherapy, Ethan M. Cohen

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Mathew NT, Landy S, Stark S, et al. Fixed-dose sumatriptan and naproxen in poor responders to triptans with a short half-life. Headache. 2009;49(7):971-982. https://doi.org/10.1111/j.1526-4610.2009.01458.x

for a patient with chronic migraines who had self-reported poor response to sumatriptan monotherapy.


Neuroimaging Referral For Reassurance In Evaluation Of Headache With Low-Risk Features, Omar E. Fernandez Oct 2021

Neuroimaging Referral For Reassurance In Evaluation Of Headache With Low-Risk Features, Omar E. Fernandez

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Howard L, Wessely S, Leese M, et al. Are investigations anxiolytic or anxiogenic? A randomised controlled trial of neuroimaging to provide reassurance in chronic daily headache. J Neurol Neurosurg Psychiatry. 2005;76(11):1558-1564. https://doi.org/10.1136/jnnp.2004.057851

for a patient with daily headache.


Neuropsychological Symptoms Related To The Covid-19 Pandemic Experienced By The General Population And Particularly By The Healthcare Personnel, Alina Zorina Stroe, Alexandru Floris Stuparu, Silviu Docu Axelerad, Daniel Docu Axelerad, Aurelia Moraru Oct 2021

Neuropsychological Symptoms Related To The Covid-19 Pandemic Experienced By The General Population And Particularly By The Healthcare Personnel, Alina Zorina Stroe, Alexandru Floris Stuparu, Silviu Docu Axelerad, Daniel Docu Axelerad, Aurelia Moraru

Journal of Mind and Medical Sciences

Undoubtedly, the outbreak of COVID-19 still represents an overanxious event for both society and population. The fear of getting infected is ubiquitous in the time of the pandemic. The population presented worrying thoughts related to the fact that the health care system was not able to provide enough services during the COVID-19 pandemic. The number of the hospital beds and ventilators was insufficient in order to ensure enough care, considering the increased number of COVID-19 cases that were admitted to the hospitals. Furthermore, people were fearful about the possibility of the global economy becoming decimated. The fright and also the …


Prion Disease: A Challenging Diagnosis, Jeffrey F. Spindel, Anita M. Fletcher, William T. Smith, Rodrigo Cavallazzi Sep 2021

Prion Disease: A Challenging Diagnosis, Jeffrey F. Spindel, Anita M. Fletcher, William T. Smith, Rodrigo Cavallazzi

The University of Louisville Journal of Respiratory Infections

Introduction: Human prion diseases are a group of rare encephalopathies resulting in rapidly progressive dementia and ultimately death. While there are no effective treatments for any form of prion disease, prompt and efficient diagnosis is essential to prevent the spread of the self-propagating protein, which may occur through aerosols, and avoid unnecessary or invasive testing. Diagnosis relies largely on physical examination, with many nonspecific findings, and laboratory testing, which has wide ranges of reported accuracy and high false positive rates with diseases such as Alzheimer’s dementia.

Methods: Patients who underwent testing for prion disease were retrospectively identified from the electronic …


Barriers And Challenges To Mental Health Care In Pakistan, Fatima Siddiqui, Qurat Ul Ain Khan Sep 2021

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 …


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 Sep 2021

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. …


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 Sep 2021

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 …


Suicide, A Convoluted Challenge In Covid-19 Era, Aisha Noorullah Sep 2021

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

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Pediatric Neurology In Pakistan: Past, Present And Future, Iram Javed Sep 2021

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

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.


Current Status Of Non-Disease Modifying Gene Therapy In Parkinson’S Disease, Muhammad Shariq Shaikh, Syed Ahsan Ali, Dureshahwar Kanwar Sep 2021

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 Sep 2021

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 Sep 2021

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 Sep 2021

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 Sep 2021

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 …


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 Aug 2021

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 …


Rsv-Induced Guillain–Barré Syndrome, Priyanga Jayakumar, Christe Shen, Dylan Goldsmith, Steven Lippmann Aug 2021

Rsv-Induced Guillain–Barré Syndrome, Priyanga Jayakumar, Christe Shen, Dylan Goldsmith, Steven Lippmann

The University of Louisville Journal of Respiratory Infections

A patient with respiratory syncytial virus-induced Guillain–Barré Syndrome and acute disseminated encephalomyelitis is presented. This virus is the most common cause of upper respiratory infections, and it can become an etiology for extra-pulmonary pathology with serious complications. Such a case is rare, but the possibility of adverse comorbidities makes early diagnosis and treatment important.