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Author(s): Abhishek Vaingankar [1]; Divyani Garg (corresponding author) [1]; Ayush Agarwal [1]; Divya M Radhakrishnan [1]; Awadh Kishor Pandit [1]; Madhavi Tripathi [2]; Achal K Srivastava [1] Introduction Wilson's disease [...], We report two cases of established Wilson's disease (WD) presenting with calcific myonecrosis of the pelvic girdle in association with pelvic fractures. Despite initial improvement with chelation, subacute worsening of ambulation in both led to a consideration of neurologic deterioration on chelation therapy. However, evaluation revealed calcific myonecrosis of the hip joint and adjacent muscles as the cause. Both patients improved with intensive rehabilitation. A review of literature indicates that although osseomuscular complications are reported in WD, calcific myonecrosis is a hitherto unknown entity which, if recognized early, may be reversed, preventing disability and unnecessary change in chelation regimens. Keywords: Copper, fracture, osseomuscular, pelvis

This article discusses a case study of a 23-year-old male with juvenile parkinsonism and cognitive impairment due to compound heterozygous variants in the BTD gene, leading to biotinidase deficiency. The patient showed symptoms of stiffness, tremors, delayed development milestones, and cognitive impairments. Treatment with biotin supplementation and dopaminergic therapy showed improvement in motor symptoms but not in cognitive functions. The study highlights the importance of considering biotinidase deficiency in cases of juvenile parkinsonism, especially when accompanied by developmental delays, cognitive impairments, and specific MRI findings. [Extracted from the article]

We describe a rare occurrence of bilateral acute severe sensorineural hearing loss in a middle- aged man that heralded the diagnosis of metastatic gastric cancer. [ABSTRACT FROM AUTHOR]

We wanted to evaluate if optical coherence tomography angiography OCTA findings could predict the functional outcome in extracranial carotid artery atherosclerotic disease (ECAD) associated stroke. This exploratory study was performed on adults with acute ischaemic stroke due to ECAD at 3–6 weeks following stroke onset with risk factor matched controls without carotid artery stenosis. Twenty-three stroke patients (cases) and 23 controls were enrolled. There was significant difference between cases and controls in deep vessel density at the macula (p =.0007) and in radial peripapillary capillary perfusion density (RPCPD) at the optic nerve head (ONH) (p =.0007). Statistically significant difference was noted in the total superficial vessel density (SVD) at the macula (SVD within 1 standard deviation [SD] versus SVD beyond 1 SD of control data) in the ipsilateral eye and functional outcome at 3 months (poor versus very good outcome, modified Rankin scale [mRS] 0–1 versus mRS 2–6, respectively; p =.0361). There was statistically insignificant correlation between the RPCPD at the ONH and the National Institutes of Health Stroke Scale score at admission, mRS at discharge, and mRS at 3 months following stroke onset (r =.33, r =.35, r =.39; p =.11, p =.09, p =.06, respectively). The findings of this exploratory study suggested that OCTA findings may predict 3 month outcomes in cases of ECAD-related stroke and could be useful in decision making in future intervention studies as to whether intervene or not in patients having critical or non-critical ECAD for preventing stroke. [ABSTRACT FROM AUTHOR]

Background and Aims: Tenecteplase is used as the standard of care treatment for thrombolysis in acute ischemic stroke (AIS) patients within 4.5 h of symptom onset. Documented reports were less certain to claim the benefits of it in an extended window period. EAST-AIS (CTRI/2022/03/040718) trial is designed to determine the success rate of thrombolysis in an extended window period for good clinical outcomes. Study Design: It is a randomized, placebo-controlled trial of tenecteplase administered within 4.5-24 h of stroke onset (with or without large vessel occlusion) based on evidence of salvageable tissue through baseline computed tomography perfusion (CTP) or magnetic resonance imaging (MRI) scan. Criteria of patient inclusion are as follows: patients of both genders (male and female), age >18 years, pre-stroke modified Ranking Scale (mRS) <2, baseline NIHSS >5, CTP showing penumbra--ischemic core ratio >1.8, absolute difference in volume >10 ml, and ischemic core volume <70 ml. The sample size for the study is 100 patients: 50 in the tenecteplase arm (0.25 mg/kg body weight; maximum- 25 mg) and 50 in the placebo arm (controls). Study Outcomes: The study's primary objective is safety endpoints along with the efficacy of tenecteplase assessed using the mRS score at 90 days of stroke onset. Conclusion: The result obtained from EAST-AIS will determine the safety and efficacy of tenecteplase injection administered 4.5-24 h following the symptom onset for AIS patients within the territory of Internal Carotid Artery (ICA), Middle Cerebral Artery (MCA), or Anterior Cerebral Artery (ACA) occlusion. [ABSTRACT FROM AUTHOR]

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder. Prognostication remains sub-optimally defined. We aimed to assess clinical determinants of disease progression rates in Indian patients with ALS and to assess the role of vascular endothelial growth factor (VEGF) in disease progression. In this cross-sectional study, consecutive patients with clinically definite/probable ALS according to the revised El Escorial criteria and controls were included. Patients were classified into fast or slow progressors based on disease progression rate (DPR). Serum and CSF VEGF level was assessed for patients and controls. Of 142 patients recruited, 93 (65.5%) were male. Mean age at enrollment was 49.37 ± 12.65 years. Mean duration of symptoms was 20.53 ± 20.88 months. Mean DPR was 1.14 ± 0.94. Based on DPR, 81 (57%) patients were slow progressors and 61 (43%) were fast progressors. Univariate analysis demonstrated a statistically significant association of DPR with age at onset, symptom duration, time to spread, wasting of small muscles of the hand, frontal release signs, and neurophysiologic bulbar abnormalities. On multivariate analysis, age at onset and symptom duration had a significant association with disease progression. The CSF VEGF levels of ALS patients (46.18 ± 27.8) were significantly elevated compared to controls (25.95 ± 25.64 pg/ml) (p = 0.001), but not serum VEGF. Age at symptom onset and duration of disease had a significant impact on disease progression in Indian patients with ALS. CSF VEGF levels were significantly elevated in ALS compared to controls, indicating the role of CSF VEGF as a potential biomarker. [ABSTRACT FROM AUTHOR]

This article discusses a case report of a 16-year-old girl who presented with inward turning of her ankles and lamellar cataracts. The girl had low serum ferritin levels and normal MRI results, which did not fit into a single described clinical entity. Genetic testing revealed a heterozygous nonsense variation in the FTL gene, which has been associated with various disorders including hereditary hyperferritinemia cataract syndrome and neuroferritinopathy. The case highlights the overlapping spectrum of FTL gene-related disorders and the complexity of diagnosing and classifying these conditions. [Extracted from the article]

The article presents the case of a 48-year-old man with rapidly progressing parkinsonism, cognitive impairment, and sleep abnormalities, resembling anti-Immunoglobulin-like cell adhesion molecule 5 (IgLON5) disease but linked to anti-amphiphysin antibodies.Topics include antibody-mediated parkinsonism, rapidly progressive parkinsonism associated with underlying malignancy, and the role of immunotherapy in treating immune-related parkinsonism.

Guillain Barre Syndrome (GBS) complicating pregnancy is a rare occurrence. Its relapse in the consecutive pregnancy is even more unusual. GBS is a life-threatening condition if not promptly diagnosed and intensively treated. Thus, here we are reporting an unusual case of a gravid woman presenting with GBS, and relapsing in subsequent pregnancy, having a successful outcome in both the gestation. She was discharged without a neurological deficit. Also, the pertinent literature review has been discussed. [ABSTRACT FROM AUTHOR]

Pramipexole, a dopaminergic agonist, has rarely been implicated as a cause of hyponatremia in patients with Parkinson's disease (PD). Pramipexole-induced stimulation of anti-diuretic hormone results in euvolemic hyponatremia. This is often neglected, and hyponatremia may lead to worsening of the motor symptoms with PD and an unnecessary increase in dopaminergic medications, causing disabling dyskinesias. This case report describes a patient with young-onset PD who developed newonset hyponatremia due to pramipexole-induced syndrome of inappropriate anti-diuretic hormone within 3 months of starting the drug. [ABSTRACT FROM AUTHOR]

Background and Purpose: There is an unmet need for a more effective thrombolytic agent in acute ischemic stroke (AIS) management. Various studies and meta-analysis suggest tenecteplase (TNK) as non-inferior over alteplase (rTPA). The present single-center study compares biosimilar TNK and rTPA in a tertiary care setting. Methods: Data of patients who presented with AIS and underwent intravenous thrombolysis (FVT) were recruited retrospectively from January 2018 to July 2021. Primary efficacy outcome was a modified Rankin score (mRS) at 90 days dichotomized at < = 2. Qualitative and quantitative variables were assessed using Chi-square test and Student's t-test, respectively. Results: A total of 160 patients, 103 in the rTPA and 57 in TNK group, were analyzed. The baseline characteristics were well matched apart from hypertension. Large artery atherosclerosis was the most frequent subtype of stroke among the two groups. Good functional outcome was seen in 47.92% of patients TNK and 64.77% of patients in rTPA group (p = 0.069). No difference was seen in the rates of any ICH (p = 0.29) and mortality at 3 months (p = 0.32) among the two groups. Conclusion: This present study observed no difference in the efficacy and safety between biosimilar TNK and rTPA. Our findings are in concordance with published trials showing equivalence between the two molecules. [ABSTRACT FROM AUTHOR]