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The endoscopic endonasal approach for resection of craniopharyngiomas has gained popularity because of its minimal need for retraction and superior visualization of and access to the optic chiasm.1-4 Despite these advantages, the proximity of craniopharyngiomas to the optic apparatus still challenges the preservation of visual function.5-10 Indocyanine green (ICG) angiography can evaluate the perfusion of the chiasm and can predict visual outcomes after endonasal approaches, in addition to known uses of the dye.3 ICG angiography may therefore hold promise in the real-time assessment of optic chiasm perfusion during resection of craniopharyngiomas by delineating details of the superior hypophyseal artery (SHA) system. Here, we present a case in which ICG angiogram was used to assess the perfusion of the chiasm before, during, and after tumor resection. This technique signaled thrombosis of the left principal SHA during tumor resection that was compensated by the anastomotic SHA system from the right. The case shows an endoscopic endonasal approach for the resection of a third ventricular craniopharyngioma in a 21-year-old woman presenting with unremitting headaches, endocrine dysfunction, and vision loss. Postoperatively, the patient's neurological examination remained unchanged and visual function improved within 2 weeks. This case underscores the potential for real-time intraoperative ICG angiography to assist in the careful resection of craniopharyngiomas while improving visual outcomes. Institutional review board approval was not required; the patient consented to the procedure and to publishing of the operative video.
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BACKGROUND AND OBJECTIVES: Despite profound medico-socio-legal consequences of traumatic brain injury (TBI) from intimate partner violence and domestic violence (IPV/DV), the incidence and acute outcomes of concurrent IPV/DV-TBI are not well understood. We examined US IPV/DV patients with/without TBI (IPV/DV-TBI; non-TBI) using the National Trauma Data Bank. We hypothesized IPV/DV-TBI would be associated with elevated morbidity. METHODS: National Trauma Data Bank Trauma Quality Programs Participant Use Files years 2018 to 2021 were queried for patients aged ≥18 years with IPV/DV using International Classification of Diseases, Tenth Revision external cause codes. TBI/non-TBI was defined using International Classification of Diseases, Tenth Revision diagnosis codes. TBI severity was defined by the Glasgow Coma Scale (severe = 3-8, moderate = 9-12, and mild = 13-15). Outcomes were intensive care unit (ICU) admission, in-hospital mortality, length of stay (LOS), and discharge home. Multivariable regressions examined associations between TBI and outcomes, controlling for sociodemographic and injury severity variables. RESULTS: Of 3891 IPV/DV-related cases, 31.1% were IPV/DV-TBI. Cranial injuries included skull fracture (30.2%), subdural (19.8%), subarachnoid (13.4%), and epidural (1.1%) hemorrhage, contusion (8.1%), and cerebral edema (3.3%). In IPV/DV-TBI, mild/moderate/severe TBI proportions were 87.4%/4.3%/8.3%, with mean LOS 11.5 ± 10.9/14.4 ± 27.3/5.0 ± 7.7-days and mortality 0.9%/22.5%/28.6%, respectively. Compared with non-TBI, IPV/DV-TBI had more female (77.2%/64.6%, P < .001) and fewer Black patients (28.9%/36.6%, P < .001), more ICU admissions (20.9%/7.5%, P < .001) and mortality (4.1%/1.8%, P < .001), longer LOS (5.3 ± 9.5/4.5 ± 6.4-days, P = .008), and decreased discharge home (79.8%/83.8%, P = .005). Multivariable regressions confirmed the associations between TBI and ICU admission (adjusted odds ratio [aOR] = 4.29, 95% CI [3.46-5.33]), mortality (aOR = 3.20 [1.99-5.15]), LOS (adjusted mean difference = +1.22 [0.68-1.76]), and inability to discharge home (aOR = 0.57 [0.46-0.71]). CONCLUSION: One-third of US IPV/DV-related trauma cases have TBI, comprising predominantly female patients. Black patients with IPV/DV-related trauma were overrepresented compared with US census estimates. IPV/DV-TBI had increased ICU admissions, LOS, in-hospital mortality, and inability to discharge home compared with non-TBI. Investigating morbidity risk factors and providing sociomedical resources during acute care are critically needed in this vulnerable population.
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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.
Subject(s)
DNA Polymerase gamma , Sleep Initiation and Maintenance Disorders , Humans , Male , DNA Polymerase gamma/genetics , Sleep Initiation and Maintenance Disorders/genetics , Stroke/genetics , Stroke/complications , Mutation, Missense , Mitochondrial Diseases/genetics , Mitochondrial Diseases/complications , Mitochondrial Diseases/diagnosis , Aged , Middle Aged , Ophthalmoplegia/genetics , Ophthalmoplegia/diagnosis , Blepharoptosis/genetics , MutationABSTRACT
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.
Subject(s)
Chickenpox , Herpes Zoster Vaccine , Herpes Zoster , Child , Humans , Chickenpox/epidemiology , Chickenpox/prevention & control , Herpes Zoster/prevention & control , Chickenpox Vaccine , Herpesvirus 3, Human , Vaccination , Vaccines, Attenuated , India/epidemiologyABSTRACT
INTRODUCTION: Cerebral Venous Thrombosis (CVT) poses a rare but life-threatening challenge, warranting meticulous treatment approaches. Traditional therapy involves Vitamin K Antagonists (VKAs), but Newer Oral Anticoagulants (NOACs) offer potential advantages. This study addresses a crucial knowledge gap in the Indian context, analyzing real-world data to guide CVT management decisions. METHODS: A single-center, ambispective cohort study included consecutive adult CVT patients. Data collection encompassed demographics, clinical data, imaging, and treatment details. Patients were categorized into VKA and NOAC groups. Outcomes measured recanalization status, functional outcomes, bleeding events, and adverse drug reactions. RESULTS: Among 181 enrolled patients, NOAC-treated (Group B) individuals had significantly higher rates of complete recanalization (58.5% vs. 31.1%) with a similar incidence of adverse events and also displayed better functional outcomes at weeks 8 and 12 compared to VKA-treated (Group A) patients. Recurrent thromboembolic events were absent in both groups during follow-up. CONCLUSION: This study highlights NOACs' potential advantages in CVT management, including improved functional outcomes, enhanced recanalization, and similar bleeding risk. Adverse events were milder with NOACs. While acknowledging limitations, these findings support NOACs as a promising alternative to VKAs, advancing CVT care and outcomes.
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Stiff-person syndrome (SPS) usually manifests as an autoimmune neuromuscular disorder characterised by pronounced and advancing rigidity, primarily affecting the trunk and proximal muscles. There are various clinical subtypes like classic SPS (truncal stiffness, generalised rigidity and muscle spasms), partial SPS (stiff-limb syndrome) and uncommon forms including progressive encephalomyelitis with rigidity and myoclonus. Camptocormia, defined as forward flexion of the spine in the upright position that disappears in the supine position, without fixed deformity, has been described only in two cases as an initial presentation of Anti glutamic acid decarboxylase (GAD) autoimmunity. We encountered a young male presenting with a progressive forward-leaning posture and involuntary rhythmic movements in the lower limb. Diagnostic workup included MRI, blood routines, autoimmune screening, genetic testing, lumbar puncture and electromyography. Elevated serum anti-GAD antibody levels, inflammatory CSF and certain other clinical features supported the diagnosis of SPS. Treatment involved benzodiazepines, muscle relaxants and immunotherapy with intravenous immunoglobulin. This case underscores the importance of considering immune-mediated causes, such as SPS, in patients presenting with camptocormia.
Subject(s)
Glutamate Decarboxylase , Muscular Atrophy, Spinal , Spinal Curvatures , Stiff-Person Syndrome , Humans , Male , Stiff-Person Syndrome/immunology , Stiff-Person Syndrome/diagnosis , Stiff-Person Syndrome/complications , Spinal Curvatures/immunology , Spinal Curvatures/complications , Spinal Curvatures/etiology , Glutamate Decarboxylase/immunology , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/complications , Muscular Atrophy, Spinal/immunology , Autoantibodies/blood , Autoantibodies/immunology , Immunoglobulins, Intravenous/therapeutic use , Adult , Muscle Rigidity/immunology , Muscle Rigidity/drug therapy , Muscle Rigidity/diagnosis , Electromyography , Magnetic Resonance ImagingABSTRACT
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.
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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.
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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.
Subject(s)
Bilateral Vestibulopathy , Multiple System Atrophy , Aged , Humans , Syndrome , Cerebellum , ConstipationABSTRACT
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.
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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.
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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.
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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.