Oculomasticatory rhythmic movements, insomnia and stroke-like episodes in a patient with POLG mutation.

The POLG mutation, a leading cause of mitochondrial diseases, exhibits a wide-ranging age of onset and a complex clinical presentation. We encountered an atypical clinical profile in an elderly man with a POLG mutation, characterised by a stroke-like episode, chronic insomnia and transient oculomasticatory rhythmic movement. History revealed chronic constipation since his 50s and progressive bilateral ophthalmoplegia since his early 60s. Subsequently, he had experienced acute encephalopathy and later developed chronic insomnia. The present neurological examination showed bilateral complete ophthalmoplegia, ptosis, and rhythmic ocular and jaw movements. Imaging indicated findings suggestive of a stroke-like episode and eventual genetic analysis revealed a homozygous missense mutation in the POLG gene. This case expands the clinical spectrum of POLG mutations in individuals over 60 years, showcasing the rare combination of a stroke-like episode, chronic insomnia and oculomasticatory rhythmic movement.

Expanded spectrum of varicella disease and the need for vaccination in India.

Varicella vaccine was first licensed in Japan and South Korea in 1989 for use in healthy children and was introduced in US in 1995. So far, 29 countries have adopted varicella vaccine in their universal immunization program (UIP). No Asian country, India included, has adopted the varicella vaccine as part of their UIP. The extra-cutaneous sites for VZV diseases are central nervous system and gastrointestinal tract, the expanded disease spectrum includes vasculopathy, myelitis, inflammatory bowel disease, perforated ulcers, and gastritis. The actual disease burden of varicella is not known as most of the infected individuals may not visit the physician. The amplifiable VZV DNA will not always be detectable in cerebrospinal fluid (CSF) samples in protracted illnesses such as vasculopathies, but demonstrable anti-VZV IgG in CSF has diagnostic value. The World Health Organization (WHO) position paper 2014 recommends two doses of varicella and zoster vaccines in targeted population. In India, varicella vaccine is not included in the UIP due to the cost and the belief that lifelong immunity occurs following primary infection. The expanded spectrum of VZV disease and the mounting body of evidence, however, suggest the need for both varicella and zoster vaccines in routine immunization schedule.

Medicaid Insurance is a Predictor of Prolonged Hospital Length of Stay After Traumatic Brain Injury: A Stratified National Trauma Data Bank Cohort Analysis of 552 949 Patients.

BACKGROUND AND OBJECTIVES: Hospital length of stay (HLOS) is a metric of injury severity, resource utilization, and healthcare access. Recent evidence has shown an association between Medicaid insurance and increased HLOS after traumatic brain injury (TBI). This study aims to validate the association between Medicaid and prolonged HLOS after TBI using the National Trauma Data Bank. METHODS: National Trauma Data Bank Trauma Quality Programs Participant Use Files (2003-2021) were queried for adult patients with TBI using traumatic intracranial injury ICD-9/ICD-10 codes. Patients with complete HLOS, age, sex, race, insurance payor, Glasgow Coma Scale, Injury Severity Score, and discharge disposition data were included (N = 552 949). Analyses were stratified by TBI severity using Glasgow Coma Scale. HLOS was coded into Tiers according to percentiles within TBI severity categories (Tier 1: 1-74th; 2: 75-84th; 3: 85-94th; 4: 95-99th). Multivariable logistic regressions evaluated associations between insurance payor and prolonged (Tier 4) HLOS, controlling for sociodemographic, Injury Severity Score, cranial surgery, and discharge disposition variables. Adjusted odds ratios (aOR) and 95% CI were reported. RESULTS: HLOS Tiers consisted of 0-19, 20-27, 28-46, and ≥47 days (Tiers 1-4, respectively) in severe TBI (N = 103 081); 0-15, 16-21, 22-37, and ≥38 days in moderate TBI (N = 39 904); and 0-7, 8-10, 11-19, and ≥20 days in mild TBI (N = 409 964). Proportion of Medicaid patients increased with Tier ([Tier 1 vs Tier 4] severe: 16.0% vs 36.1%; moderate: 14.1% vs 31.6%; mild TBI: 10.2% vs 17.4%; all P < .001). On multivariable analyses, Medicaid was associated with prolonged HLOS (severe TBI: aOR = 2.35 [2.19-2.52]; moderate TBI: aOR = 2.30 [2.04-2.61]; mild TBI: aOR = 1.75 [1.67-1.83]; reference category: private/commercial). CONCLUSION: This study supports Medicaid as an independent predictor of prolonged HLOS across TBI severity strata. Reasons may include different efficacies in care delivery and reimbursement, which require further investigation. Our findings support the development of discharge coordination pathways and policies for Medicaid patients with TBI.

Patient-reported outcome measures in cerebrovascular neurosurgery.

OBJECTIVE: The object of this study was to describe the use of patient-reported outcome measures (PROMs) in cerebrovascular neurosurgery and to outline a framework for incorporating them into future cerebrovascular research. METHODS: Following the standardized PRISMA guidelines, the authors performed a search of the PubMed and Embase databases in February 2023 using filters to investigate six specific cerebrovascular pathologies/procedures: subarachnoid hemorrhage (SAH), intracranial hemorrhage, ischemic stroke, arteriovenous malformation, chronic subdural hematoma, and carotid artery stenosis. PROMs in the identified articles were distinguished and classified as generic, symptom specific, or disease specific. RESULTS: A total of 259 studies including 51 PROMs were eligible for inclusion in the review. Most of the PROMs were generic or symptom specific. Only 5 PROMs were disease specific, and all of these pertained to stroke or SAH. CONCLUSIONS: There are only a limited number of disease-specific PROMs available for cerebrovascular pathologies and outcomes. Further validation of existing measures in independent cohorts, expanded incorporation of disease-specific PROMs in prospective trials, and the development of new PROMs specific to cerebrovascular conditions are critical to a better understanding of the impact of cerebrovascular diseases and novel therapies on patient lives.

Bilateral vestibulopathy presaging clinically probable multisystem atrophy.

Bilateral vestibulopathy is a clinical diagnosis backed by investigative confirmation, which can be masked by the lack of lateralising signs. It has a broad aetiological spectrum including neurodegenerative conditions, though many such cases also have unknown aetiology. We present the case of an elderly gentleman who presented with progressive bilateral vestibulopathy nearly 1.5 years prior to his eventual diagnosis of clinically probable multisystem atrophy. This case highlights the need to serially re-evaluate for parkinsonism and cerebellar signs in idiopathic bilateral vestibulopathy and raises a possibility that bilateral vestibulopathy, similar to constipation or anosmia, could be an early syndrome presaging the onset of overt extrapyramidal or cerebellar symptoms in patients with multisystem atrophy.

Stroke-Like Episodes and Epilepsy in a Patient with COQ8A-Related Coenzyme Q10 Deficiency.

Coenzyme q10 (CoQ10) deficiency is an extremely uncommon disease that has very rarely been reported in adulthood. This case describes an elderly male with ataxia since adolescence, and visual disturbance since 40, presenting with recurrent episodes of seizures. Imaging revealed stroke-like episodes, with other immune and infective evaluations being negative. He was eventually diagnosed to have Primary CoQ10 deficiency secondary to CoQ8A mutation. This account highlights the challenges in diagnosing and managing primary Coenzyme Q10 deficiency, especially when it presents later in life with atypical features such as stroke-like episodes.

Comparison of Fasting Insulin Level, Homeostatic Model of Insulin Resistance, and Lipid Levels between Patients with Primary Hypertension and Normotensive Subjects.

BACKGROUND: Hyperinsulinemia and insulin resistance occurs in obese patients with primary hypertension independent of diabetes and obesity. This study was aimed at assessing serum fasting insulin levels, the homeostatic model assessment for insulin resistance (HOMA-IR), and serum lipid levels in non-obese patients with primary hypertension when compared to normotensive subjects. METHODS: This observational study comprised 100 patients over 18 years of age, divided into two groups. The hypertensive group comprised non-obese patients with primary hypertension (n=50); the normotensive group comprised normotensive age- and sex-matched individuals (n=50). Patients with diabetes, impaired fasting glucose, obesity, and other causative factors of insulin resistance were excluded from the study. Serum fasting insulin levels and fasting lipid profiles were measured, and insulin resistance was calculated using HOMA-IR. These data were compared between the two groups. Pearson's correlation coefficient was used to assess the extent of a linear relationship between HOMA-IR and to evaluate the association between HOMA-IR and systolic and diastolic blood pressures. RESULTS: Mean serum fasting insulin levels (mIU/L), mean HOMA-IR values, and fasting triglyceride levels (mg/dL) were significantly higher in the hypertensive versus normotensive patients (10.32 versus 6.46, P<0.001; 1.35 versus 0.84, P<0.001; 113.70 versus 97.04, P=0.005, respectively). The HOMA-IR levels were associated with systolic blood pressure (r value 0.764, P=0.0005). CONCLUSION: We observed significantly higher fasting insulin levels, serum triglyceride levels, and HOMA-IR reflecting hyperinsulinemia and possibly an insulin-resistant state among primary hypertension patients with no other causally linked factors for insulin resistance. We observed a significant correlation between systolic blood pressure and HOMA-IR.

Modified collision study to isolate and study small fibre neuropathy in patients with Type 2 diabetes.

Introduction: Diabetic distal symmetrical polyneuropathy (DSPN) can be categorized as small fibre, large fibre, and mixed neuropathy. Even though small fibre neuropathy is the most prevalent, unfortunately it is usually not recognized by routine electrophysiologic studies. In this study, we intend to examine the slow velocity small fibres responsible for small fibre DSPN, by isolating them using collision technique principle in patients with diabetes. Methods: This is an observational case-control study designed to compare nerve conduction values with application of collision technique in 60 patients with T2D and in 60 age and sex matched controls. Results: The collision study in patients with Type 2 Diabetes showed mean Latency of 10.5 ± 1.7 ms and mean Amplitude of 3.4 ± 2.3 mV on the right side and mean Latency of 10.5 ± 1.7 ms and the mean Amplitude of 3.5 ± 2.2 mV on the left side. There was a statistically significant difference (P value < 0.001) in the amplitute and latency of CNAPs of small fibres in median nerve innervated APBs of both arms between those with T2D and controls. Discussion and Conclusion: Collision study helps to examine the slower conducting fibres of the larger nerves. Our study suggests that the Collision Technique can be used to identify early peripheral neuropathy regardless of the diabetes status, thus making it more practically feasible and cost-effective.

C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.

Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature.