Ataxia telangiectasia: a rare case report from Nepal.

Introduction and importance: Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder with early childhood onset. It is characterized by ataxia, oculocutaneous telangiectasia, immunodeficiency, and lymphoid-origin cancer predisposition due to ataxia telangiectasia mutated gene mutations. Case presentation: The authors present a 19-year-old girl with spastic movements since 18 months, leading to wheelchair dependence. Ocular telangiectasia, dystonic posture, and slurred speech were evident. Diagnosis involved elevated alpha-fetoprotein levels and typical brain imaging. Clinical discussion: A-T due to ataxia telangiectasia mutated gene mutations located on chromosome 11q22-23. It has varied presentations categorized by age and features. Timely diagnosis relies on characteristic symptoms, lab findings, and imaging. Radiation sensitivity and increased cancer risk underscore cautious radiation use. Conclusion: A-T is a complex disorder with no cure. Genetic counseling for parents is vital. Its poor prognosis due to infection susceptibility and cancer risk necessitates supportive care. Comprehensive management, including genetic counseling and careful surveillance, is imperative.

Implementing stroke care in a lower-middle-income country: results and recommendations based on an implementation study within the Nepal Stroke Project.

Background: Globally, the majority of strokes affect people residing in lower- and lower-middle-income countries (LMICs), but translating evidence-based knowledge into clinical practice in regions with limited healthcare resources remains challenging. As an LMIC in South Asia, stroke care has remained a healthcare problem previously unaddressed at a national scale in Nepal. The Nepal Stroke Project (NSP) aims to improve acute stroke care in the tertiary healthcare sector of Nepal. We hereby describe the methods applied and analyze the barriers and facilitators of the NSP after 18 months. Methods: The NSP follows a four-tier strategy: (1) quality improvement by training healthcare professionals in tertiary care centers; (2) implementation of in-hospital stroke surveillance and quality monitoring system; (3) raising public awareness of strokes; and (4) collaborating with political stakeholders to facilitate public funding for stroke care. We performed a qualitative, iterative analysis of observational data to analyze the output indicators and identify best practices. Results: Both offline and online initiatives were undertaken to address quality improvement and public awareness. More than 1,000 healthcare professionals across nine tertiary care hospitals attended 26 stroke-related workshops conducted by Nepalese and international stroke experts. Monthly webinars were organized, and chat groups were made for better networking and cross-institutional case sharing. Social media-based public awareness campaigns reached more than 3 million individuals. Moreover, live events and other mass media campaigns were instituted. For quality monitoring, the Registry of Stroke Care Quality (RES-Q) was introduced. Collaboration with stakeholders (both national and international) has been initiated. Discussion: We identified six actions that may support the development of tertiary care centers into essential stroke centers in a resource-limited setting. We believe that our experiences will contribute to the body of knowledge on translating evidence into practice in LMICs, although the impact of our results must be verified with process indicators of stroke care.

Rare case of duplicated middle cerebral artery and acute ischaemic stroke managed successfully with mechanical thrombectomy.

A man in his early 80s presented with acute onset aphasia and right-sided weakness with an NIH Stroke Scale (NIHSS) of 17. He was last seen normal 9 hours before the presentation. MRI of the brain showed acute infarcts in the left caudate, lentiform nucleus and corona radiata. MRI angiogram (MRA) revealed an occluded left main middle cerebral artery (MCA) and an associated ipsilateral patent duplicated middle cerebral artery (DMCA). Mechanical thrombectomy (MT) was performed, and he was discharged with an NIHSS of 8. In this report, we review and discuss the challenges during the intervention of MCA occlusion in the presence of duplicated MCA, a rare anomaly.

Stroke epidemiology and outcomes of stroke patients in Nepal: a systematic review and meta-analysis.

BACKGROUND: With an increasing burden of stroke, it is essential to minimize the incidence of stroke and improve stroke care by emphasizing areas that bring out the maximum impact. The care situation remains unclear in the absence of a national stroke care registry and a lack of structured hospital-based data monitoring. We conducted this systematic review and meta-analysis to assess the status of stroke care in Nepal and identify areas that need dedicated improvement in stroke care. METHODS: A systematic literature review was conducted to identify all studies on stroke epidemiology or stroke care published between 2000 and 2020 in Nepal. Data analysis was done with Statistical Package for Social Sciences (SPSS) and Comprehensive Meta-analysis (CMA-3). RESULTS: We identified 2533 studies after database searching, and 55 were included in quantitative and narrative synthesis. All analyses were done in tertiary care settings in densely populated central parts of Nepal. Ischemic stroke was more frequent (70.87%) than hemorrhagic (26.79%), and the mean age of stroke patients was 62,9 years. Mortality occurred in 16.9% (13-21.7%), thrombolysis was performed in 2.39% of patients, and no studies described thrombectomy or stroke unit care. CONCLUSION: The provision of stroke care in Nepal needs to catch up to international standards, and our systematic review demonstrated the need to improve access to quality stroke care. Dedicated studies on establishing stroke care units, prevention, rehabilitation, and studies on lower levels of care or remote regions are required.

Screening of Peripheral Arterial Disease in Patients with Diabetes.

BACKGROUND: Out of many atherosclerotic complications, peripheral arterial disease (PAD) is also important one. To prevent morbidity and mortality related with PAD, early detection is must, and is possible by duplex screening. This study aims at screening for PAD in patients with type 2 Diabetes mellitus. METHODS: This study is single centered cross- sectional, observational study conducted in department of internal medicine of DMCRI- a tertiary care hospital. A total of 140, type 2 diabetes patients were screened for peripheral arterial disease by duplex ultrasound after taking informed consent and fulfilling inclusion and exclusion criteria. RESULTS: In our study among 140 Participants, 50% are male and 50% are female with mean age of 57.6 ± 10.4 years standard deviation (SD) and mean duration of diabetes was 8.31± 5.9 SD years with 13.6% were alcohol consumer; 1.4% were smokers; 59.3% of them had high blood pressure; (28.6%) had dyslipidaemia and 11.4% had hypothyroidism. The prevalence of PAD in type 2 diabetes was 27.1% in our study. The mean of glycated hemoglobin (HBA1c) was 7.23 ± 1.75% and while performing analytical test {chi-square (χ)}, we found there was no association between HBA1c level and presence of peripheral arterial disease. CONCLUSIONS: The prevalence of peripheral arterial disease is high almost more than one quarter (27.1%). Screening of diabetic patients is must especially those aged and high glycated hemoglobin for early detection and effective management of PAD.

Are digital social media campaigns the key to raise stroke awareness in low-and middle-income countries? A study of feasibility and cost-effectiveness in Nepal.

BACKGROUND: Stroke is a major global health problem and was the second leading cause of death worldwide in 2020. However, the lack of public stroke awareness especially in low- and middle-income countries (LMICs) such as Nepal severely hinders the effective provision of stroke care. Efficient and cost-effective strategies to raise stroke awareness in LMICs are still lacking. This study aims to (a) explore the feasibility of a social media-based stroke awareness campaign in Nepal using a cost-benefit analysis and (b) identify best practices for social media health education campaigns. METHODS: We performed a stroke awareness campaign over a period of 6 months as part of a Stroke Project in Nepal on four social media platforms (Facebook, Instagram, Twitter, TikTok) with organic traffic and paid advertisements. Adapted material based on the World Stroke Day Campaign and specifically created videos for TikTok were used. Performance of the campaign was analyzed with established quantitative social media metrics (impressions, reach, engagement, costs). RESULTS: Campaign posts were displayed 7.5 million times to users in Nepal. 2.5 million individual social media users in Nepal were exposed to the campaign on average three times, which equals 8.6% of Nepal's total population. Of those, 250,000 users actively engaged with the posts. Paid advertisement on Facebook and Instagram proved to be more effective in terms of reach and cost than organic traffic. The total campaign cost was low with a "Cost to reach 1,000 users" of 0.24 EUR and a "Cost Per Click" of 0.01 EUR. DISCUSSION: Social media-based campaigns using paid advertisement provide a feasible and, compared to classical mass medias, a very cost-effective approach to inform large parts of the population about stroke awareness in LMICs. Future research needs to further analyze the impact of social media campaigns on stroke knowledge.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case report from Nepal.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS) is a rare neurodegenerative inherited disorder that is characterized by stroke-like episodes, seizures, endocrine, and multiple system involvement. It is important to consider it as a differential diagnosis in a young patient with stroke-like episodes as it is progressive and has multiple complications. Case presentation: A 28-year-old male presented with slurring of speech and drowsiness for 7 h. He was a diagnosed case of type 2 diabetes mellitus, Wolf-Parkinson-White syndrome, and bilateral hearing loss. Clinical findings and investigations: The patient had expressive aphasia with impaired fluency, repetition, and naming. After being discharged, he represented with loss of consciousness and involuntary movements of the whole body. MRI and MRS showed extension of hyperintense lesions to parieto-occipital regions from temporal regions not limited by vascular territories. MELAS was considered, which was confirmed by molecular genetic analysis. Coenzyme Q10 was used for MELAS. Insulin, Linagliptin, and levetiracetam were used for diabetes and seizures. Regular follow-up was advised to the patient.MELAS is an important syndrome to consider in any young patient presenting with unexplained stroke disorders. A high index of suspicion is needed in an appropriate clinical setting to avoid misdiagnosis.

Initial Results of a Direct Aspiration First-Pass Technique to Treat Acute Ischemic Stroke Patients in Nepal.

Objective Endovascular therapy has become the mainstay of treatment of acute ischemic stroke (AIS) due to large vessel occlusion. A direct aspiration first-pass technique (ADAPT) using large bore aspiration catheters has been introduced as a rapid, simple method for achieving good revascularization and good clinical outcomes. The aim of this study was to assess the safety and efficacy of ADAPT in the treatment of AIS due to large-vessel occlusion in the Nepali patient population. Materials and Methods Retrospective data were collected for all consecutive patients treated for AIS with ADAPT from March 2019 through January 2021 at two hospitals. Outcomes were successful revascularization (modified thrombolysis in cerebral infarction score of 2b-3), time to revascularization, procedural complications, and good clinical outcome (modified Rankin Scale score of 0 to 2) and mortality at 90 days. Statistical Analysis Retrospective data were collected and descriptive statistics were calculated. Results Sixty-eight patients treated for AIS with ADAPT were included. The median National Institutes of Health Stroke Scale score at presentation was 13 (IQR 10-13.25). The median time from arterial puncture to revascularization was 40 minutes (IQR 30-45). Successful revascularization was achieved in 54 patients (79.4%). No cases of symptomatic intracranial hemorrhage occurred. At 90-day follow-up, good clinical outcome was achieved in 57 patients (83.8%), and 4 patients died (5.9%). Conclusion A direct aspiration first pass technique appears to be a fast, simple, safe, and effective method for the management of AIS in the Nepali patient population.

D-penicillamine Induced Myasthenia Gravis in Wilson's Disease: A Case Report.

Myasthenia gravis is a neuromuscular junction disorder characterised by fluctuating muscle weakness, improved by using anti-cholinesterase drugs. In addition to the autoimmune aetiology, various factors such as infections, surgery, and drugs are known to precipitate the condition. We report a case of a 15-year-old boy with D-penicillamine-induced myasthenia gravis who presented with facial diplegia, dysphagia, and drooling of saliva, 6 years after the initiation of treatment for Wilson's disease. Therefore, clinicians should be more vigilant while prescribing patients with chelating drugs like D-penicillamine with regular monitoring of the new symptoms and keeping a very low threshold for the suspicion of myasthenia gravis. Keywords: d-penicillamine; myasthenia gravis; pyridostigmine; Wilson's disease.

Management of Stroke During COVID-19 Pandemic: The Challenges in Nepal.

The COVID-19 pandemic has significantly affected health care delivery globally. COVID-19 is associated with varied neurological manifestations including acute ischemic stroke. In densely populated South Asian nations like Nepal that have suboptimal baseline health care systems, we foresee unique challenges during this pandemic to ensure effective stroke management as well as the safety of health care workers involved in the management of stroke patients. Keywords: COVID-19; health care workers; safety; stroke management.

Prevalence of Stroke and Stroke Risk Factors in a South-Western Community of Nepal.

BACKGROUND: Stroke related studies in Nepal are primarily hospital-based and mainly from the capital city. OBJECTIVES: We aimed to estimate the prevalence of stroke and stroke risk factors in the South-Western community of Nepal. METHODS: A cross-sectional study was conducted from May to August 2018 among 549 randomly selected Nepalese participants from diverse ethnicity, aged ≥15 years, in a region with the availability of neurological support facilities. Data were collected using a stroke questionnaire designed for the purpose. Stroke was identified by enumerators using the Balance-Eyes-Face-Arms-Speech-Time (BEFAST) scale, and a senior neurologist confirmed it. We assessed the presence of major risk factors associated with stroke. RESULTS: The crude and age-standardised prevalence of stroke were 2368 and 2967 per 100,000 respectively. Of all the surveyed participants, 61% (n=335) reported consumption of full-fat dairy products >3 days per week, 87.6% (n=481) reported a high intake of salt (>5 g/day), 83.6% (n=459) with a low intake of fruits and vegetables (<400 g/day), 45.2% (n=248) with perceived stress related to work or home, 51.6% (n=283) with financial stress (283, 51.6%), 86.7% (n=457) with low high-density lipoprotein, 96.2% (n=507) with high blood urea nitrogen, 47.1% (n=356) were either overweight or obese 20.4% (n=112) with hypertension and 6.2% (n=34) with diabetes. CONCLUSIONS: The prevalence of stroke in the community of the South-Western part of Nepal is relatively higher than that estimated in South-Asia and global context. Our findings suggest an urgent community intervention, particularly with healthy lifestyles changes for future stroke prevention in the high-risk group.

Renal impairment in stroke patients: A comparison between the haemorrhagic and ischemic variants.

Background: Renal impairment is regularly seen in hospitalized stroke patients, affecting the outcome of patients, as well as causing difficulties in their management. A prospective cohort study was conducted to assess the trend of renal function in hospitalized ischemic and haemorrhagic stroke patients. The incidence of renal impairment in these subgroups, the contributing factors and the need for renal replacement in renal impaired patients was evaluated. Methods: Alternate day renal function testing was performed in hospitalized stroke patients. Estimated glomerular filtration rate (e-GFR) was calculated and the trend of renal function in the two stroke subgroups (haemorrhagic and ischemic) was assessed, with renal impairment defined as e-GFR < 60mL/ minute per 1.73m 2. Results: Among 52 patients, 25 had haemorrhagic stroke (mean age 59.81 ± 14.67) and 27 had ischemic stroke (mean age 56.12 ± 13.08). The mean e-GFR (mL/minute per 1.732m 2) at admission in the haemorrhagic stroke subgroup was 64.79 ± 25.85 compared to 86.04 ± 26.09 in the ischemic stroke subgroup (p=0.005). Sixteen out of 25 (64%) patients in the haemorrhagic stroke subgroup and 9 out of 27 (33.3%) patients in the ischemic subgroup developed renal impairment (p=0.027). The location of the bleed (p=0.8), volume of hematoma (p=0.966) and surgical intervention (p=0.4) did not predispose the patients to renal impairment. One out of 16 patients with haemorrhagic stroke (who eventually died), and 2 out of 9 patients with ischemic stroke required renal replacement. Conclusion: Renal impairment is commonly seen in stroke patients, more so in patients who suffered haemorrhagic strokes.  The impairment, however, is transient and rarely requires renal replacement therapy.

Knowledge, Beliefs, and Practices on Epilepsy among High School Students of Central Nepal.

Introduction. Epilepsy continues to increase worldwide but, unfortunately, many high school students have inadequate knowledge of and negative beliefs towards the disease. We aimed to assess the knowledge, beliefs, and practices of epilepsy among high school students of Central Nepal. Materials and Methods. A cross-sectional study was performed involving 1360 high school students from 33 private schools across Bharatpur, from June 2013 to July 2013, to assess their knowledge, beliefs, and practices (KBP) on epilepsy using a standardized questionnaire. The differences in mean KBP scores between different sexes, religions, and those personally knowing versus not knowing someone with epilepsy were assessed using independent t-tests; a Pearson correlation was calculated to assess the relationship between KBP scores and age. Results. Of 1360 participants, 79 (5.8%) students had never heard or read about epilepsy and were consequently excluded from statistical analysis. Only 261 out of 1360 (19.2%) had personally known someone with epilepsy. The mean KBP scores were 5.0/8, 7.4/12, and 1.7/3, respectively. Statistically significant differences were only observed in the knowledge component of the KBP score; female scored higher than males (p < 0.001) and, interestingly, students who had personally known a person with epilepsy actually knew less than those who had not known one (p = 0.018). We also found a significant negative correlation between knowledge and age (p = 0.003). Conclusions. The overall knowledge, beliefs, and practices appear to be inadequate, emphasizing the need for further educational intervention.

Knowledge, attitude, and practice of stroke among high school students in Nepal.

BACKGROUND: Baseline stroke knowledge in a targeted population is indispensable to promote the effective stroke education. We report the baseline knowledge, attitude, and practice (KAP) of high school students with respect to stroke from Nepal. MATERIALS AND METHODS: A self-structured questionnaire survey regarding KAP about stroke was conducted in high school students of 33 schools of Bharatpur, Nepal. Descriptive statistics including Chi-square test was used, and the significant variables were subjected to binary logistic regression. RESULTS: Among 1360 participants, 71.1% had heard or read about stroke; 30.2% knew someone with stroke. 39.3% identified brain as the organ affected. Sudden onset limb/s weakness/numbness (72%) and hypertension (74%) were common warning symptom and risk factor identified. 88.9% would take stroke patients to a hospital. Almost half participants (55.5%) felt ayurvedic treatment be effective. 44.8% felt stroke as a hindrance to a happy life and 86.3% believed that family care was helpful for early recovery. Students who identified at least one risk factor were 3.924 times (P < 0.001, confidence interval [CI] = 1.867-8.247) or those who identified at least one warning symptom were 2.833 times (P ≤ 0.023, CI = 1.156-6.944) more likely to take stroke patients to a hospital. CONCLUSION: KAP of high school Nepalese students regarding stroke was satisfactory, and the students having knowledge about the risk factors and warning symptoms were more likely to take stroke patients to a hospital. However, a few misconceptions persisted.

BMI, HOMA-IR, and Fasting Blood Glucose Are Significant Predictors of Peripheral Nerve Dysfunction in Adult Overweight and Obese Nondiabetic Nepalese Individuals: A Study from Central Nepal.

Objective. Nondiabetic obese individuals have subclinical involvement of peripheral nerves. We report the factors predicting peripheral nerve function in overweight and obese nondiabetic Nepalese individuals. Methodology. In this cross-sectional study, we included 50 adult overweight and obese nondiabetic volunteers without features of peripheral neuropathy and 50 healthy volunteers to determine the normative nerve conduction data. In cases of abnormal function, the study population was classified on the basis of the number of nerves involved, namely, "<2" or "≥2." Multivariable logistic regression analysis was carried out to predict outcomes. Results. Fasting blood glucose (FBG) was the significant predictor of motor nerve dysfunction (P = 0.039, 95% confidence interval (CI) = 1.003-1.127). Homeostatic model assessment of insulin resistance (HOMA-IR) was the significant predictor (P = 0.019, 96% CI = 1.420-49.322) of sensory nerve dysfunction. Body mass index (BMI) was the significant predictor (P = 0.034, 95% CI = 1.018-1.577) in case of ≥2 mixed nerves' involvement. Conclusion. FBG, HOMA-IR, and BMI were significant predictors of peripheral nerve dysfunction in overweight and obese Nepalese individuals.

Feasibility and efficacy of thrombolysis in acute ischemic stroke: A study from National Institute of Neurological and Allied Sciences, Kathmandu, Nepal.

BACKGROUND: Stroke is the major cause of morbidity and mortality worldwide. The number of stroke patients receiving recombinant tissue plasminogen activator (rt-PA), also known as Alteplase, in the developing world is extremely low. We aim to study the feasibility and efficacy of thrombolysis for the 1(st) time in our country. MATERIALS AND METHODS: In this retrospective study (July 2012-August 2015), acute ischemic stroke patients who were thrombolyzed within 3 h of stroke onset were included. Their demographic profiles, clinical profiles, risk factors, type of thrombolytic used, and outcomes were systematically recorded and analyzed. RESULTS: A total of 9 patients were thrombolyzed. The mean time from the onset of stroke symptoms to first dose of rt-PA (onset to treatment) was 1.2 h. Six patients had good neurological outcome as measured by modified Rankin Scale (mRS). The median mRS at discharge was 3. Thrombolysis-related post treatment complication was noted in 44.4%, of which nonfatal intracranial bleed occurred only in 2 patients (22.2%). None of the patients receiving intravenous tenecteplase had thrombolysis-related complications, and none of the patients had fatal intracranial bleed. CONCLUSION: This study clearly demonstrates the beginning of a feasible and effective thrombolysis in the treatment of acute ischemic stroke in Nepal.

Chorea-acanthocytosis: a case report.

Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and peripheral neuropathy. Her peripheral blood smears showed acanthocytosis and magnetic resonance imaging revealed atrophied head of caudate nuclei and putaminal hyperintensities on T2-weighted and fluid attenuated inversion recovery images. Work-up for autoimmune and metabolic causes was negative. She was diagnosed with chorea-acanthocytosis, an entity under neuroacanthocytosis syndrome and the patient was offered symptomatic treatment.

Stroke subtype, age, and baseline NIHSS score predict ischemic stroke outcomes at 3 months: a preliminary study from Central Nepal.

BACKGROUND: The combined medications practice of using antithrombotic agents and statins with or without antihypertensive agents is common in the treatment of acute ischemic stroke in Nepal. Short-term outcomes of the current practice have been studied. We aim to explore the predictors of ischemic stroke outcomes at 3 months, with the current combined medications practice. METHODS: The study population (N=56) included acute ischemic stroke patients treated at the Neurology Department of the College of Medical Sciences-Teaching Hospital, Chitwan, Nepal, from May 2014 to August 2014 and followed up at 3 months. Death or disability (modified Rankin scale >2) was defined as poor outcomes. Multivariate logistic regression analysis (P<0.10) using potential variables from bivariate analysis (P≤0.20) was adjusted to predict outcomes at 3 months. RESULTS: At 3 months, 29 (51.8%) patients were independent, eleven (19.6%) were dependent, while 16 (28.6%) died. Stroke subtype and baseline National Institute of Health Stroke Scale (NIHSS) scores were associated with death/disability (27, 48.2%) at 3 months. Regression analysis showed that large-artery stroke (odds ratio [OR] =284.145, 95% confidence interval [CI] =5.221-15,465.136, P=0.006), age (OR =1.113, 95% CI =1.002-1.236, P=0.045), and baseline NIHSS score (OR =1.557, 95% CI =1.194-2.032, P=0.001) were significant predictors of poor outcome at 3 months. CONCLUSION: Stroke subtype, age, and baseline NIHSS score are predictors of ischemic stroke outcomes in Nepalese population treated with the current practice of using combined antithrombotic and statins with or without antihypertensive agents, and these predictors can be used for the improvement of selection of patients for the appropriate treatment.