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Offshore wind is at its infancy in terms of technology and capacities in India. The Ministry of New and Renewable Energy (MNRE) announced medium and long term offshore targets of 5 GW and 30 GW by 2022 and 2030, respectively. The location of the first offshore wind park has recently been identified, and the Solar Energy Corporation of India (SECI) has signed a contract with the Government of Gujarat to establish the 1000 MW of offshore wind energy capacity by 2019. To achieve the ambitious targets, India will require demand and resources planning, and policy support at an unprecedented scale. The MNRE notified the country's offshore wind energy policy in 2015, and draft offshore wind energy lease rules in 2019. In this paper, several offshore wind energy challenges have been identified, and a clear policy road map and effective support schemes required to trigger offshore wind development activity for medium to long term are suggested. The environmental consequences of European offshore wind farms are assessed to optimize future monitoring of offshore wind programmes in India. Furthermore, the occupational health and safety management requirements are highlighted to ensure that the accidents, vulnerabilities, and hazards are avoided. The research and development (R&D) considerations are provided to assist policymakers, potential investors, stakeholders, designers and manufacturers, contractors, professional advisers, and wind farm developers in their decisions and planning. [ABSTRACT FROM AUTHOR]

We report the design of a Faraday balance that can be used to measure the magnetization of transition metal oxides at high temperatures and under controlled atmosphere. The instrument is sufficiently sensitive and stable to quantify the magnetic force on diamagnetic and paramagnetic samples at temperatures up to 1000° C and in oxygen partial pressures as low as 100 ppm. We demonstrate the performance of the instrument by presenting preliminary magnetic measurements of lanthanum strontium cobalt oxide (La1-xSrxCoO3-δ) and aluminum oxide (Al2O3). [ABSTRACT FROM AUTHOR]

Background Magnetic resonance imaging (MRI) arthrography has been a mainstay in the diagnosis of musculoskeletal (MSK) joint-related pathology for decades. With the advent of MRI and further advancements incorporating powerful magnetic fields, the radiological landscape is undergoing a shift. The objective of this study is to evaluate the relevance and preference for MRI arthrography versus MRI among MSK radiologists in our current clinical practice across a range of geographic locations. Methods A global survey of 52 MSK radiologists was conducted to understand current practices, preferences, and recommendations related to the adoption of MRI arthrography and advanced MRI technologies. Responses were analyzed using descriptive statistics, and significant trends were compiled to present the overall preferences of the participants from their clinical experience. Results The majority of the respondents were from the UK (65%), followed by India (13%), the United States (11.5%), and the United Arab Emirates (8%). Of the radiologists surveyed, 98% currently perform MRI arthrogram procedures within their practice, with 27% of clinicians conducting more than 100 MRI arthrogram procedures annually. Regarding the adoption of 3T MRI scanners, 79% of respondents affirmed they have access to the technology within their respective institutions. Concerning the choice of contrast agents used, 84% preferred dilute gadolinium, 8% used saline, 4% used both gadolinium and saline, and another 4% opted for alternative agents. Despite the growing accessibility and utility of 3T MRI, MRI arthrograms remain a favored procedure, especially for shoulder pathology and postoperative cases. For the hip and wrist, the preference leans toward 3T MRI, except for more complex diagnostic purposes or postoperative cases. Conclusions The study's findings suggest that while the advent of the 3T MRI has impacted the frequency with which MRI arthrograms are conducted, it cannot entirely replace the precision and specificity MRI arthrography offers for particular joint pathologies. As institutions expand upon their MRI and imaging infrastructure, further research in this area may help guide MSK radiologists in selecting the most appropriate imaging modality for patients on a case-by-case basis., Competing Interests: Human subjects: All authors have confirmed that this study did not involve human participants or tissue. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Baskar et al.)

Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality. We aimed to study the phenotype-genotype spectrum of genetically confirmed cases of CMD. This was retrospective & descriptive study done at a quaternary care referral centre in south India. Genetically confirmed cases of CMDs seen between 2010 to 2020 were recruited. Detailed clinical history, including pedigree, MRI brain/muscle, next generation sequencing results of 61 CMD cases were collected. Collagen VI-related dystrophy (COL6-RD) (36%) was the most common subtype with variants frequently seen in COL6A1 gene. Other CMDs identified were LAMA2-RD (26%), alpha-dystroglycan-RD (19%), LMNA-RD (8%), CHKB-RD (7%) and SEPN1-RD (3%). Similar to previous cohorts, overall, missense variants were common in COL-6 RD. Variants in triple helical domain (THD) of COL6-RD were seen in 11/22 patients, 5 of whom were ambulatory contrary to previous literature citing severe disease with these variants. However, our follow-up period was shorter. In the LAMA2-RD, 2/16 patients were ambulatory & all 16 carried truncating variants. Among dystroglycanopathies, FKRP-RD was the commonest. Milder phenotype of FKRP- RD was observed with variant c.1343C > T, which was also a recurrent variant in our cohort. p.Arg249Trp variant in LMNA-CMD associated with early loss of ambulation was also identified in 1/5 of our patients who expired at age 2.8 years. The current retrospective series provides detailed clinical features and mutation patterns of genetically confirmed cases of CMD from a single center in India., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction  ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation-contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ectodermal dysplasia. Autosomal dominant gain-of-function mutation causes Stormorken's syndrome, which includes tubular aggregate myopathy along with bleeding diathesis. Methods  This is a description of a genetically confirmed case of ORAI-1-associated myopathy with clinical, histopathological, and imaging characteristics and a detailed literature review. Results  We report an 18-year-old woman who presented with 2-and-a-half year history of slowly progressive proximal lower limb weakness and ophthalmoparesis. Her serum creatine kinase levels were normal. Magnetic resonance imaging of the muscle showed predominant fatty infiltration of the glutei and quadriceps femoris. Histopathological analysis of muscle biopsy was suggestive of congenital fiber-type disproportion (CFTD). Clinical exome sequencing showed novel homozygous nonsense pathogenic variant NC_000012.12 (NM_032790.3): c.205G > T (p.Glu69Ter) in ORAI-1 gene. Conclusion  This report expands the phenotypic spectrum of ORAI-1-related myopathy to include congenital myopathy-CFTD with ophthalmoparesis, a novel manifestation., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Background and Objectives: Dizziness is a frequent complaint encountered in neurology clinics. Dizziness can be spontaneous or triggered, which includes orthostatic dizziness. Orthostatic dizziness can be acute (reflex/vasovagal syncope), chronic (orthostatic hypotension (OH), or postural orthostatic tachycardia syndrome (POTS). Since dizziness has numerous causes, these patients undergo extensive investigations before a diagnosis is made. Here, we describe five patients who presented with dizziness and were diagnosed to have POTS on evaluation., Materials and Methods: We conducted a retrospective study of patients who presented to the Department of Neurology from August 2020 to November 2021 with the complaint of dizziness and were diagnosed with POTS. The clinical history, neurological examination, treatment response, routine blood investigations, magnetic resonance imaging (MRI) brain, and autonomic function tests (AFTs) of the patients were reviewed from patients' clinical records. Patients with dizziness and with diagnosis other than POTS were excluded from the study., Results: Among the five patients, males were predominant with a male to female ratio of 3:2. All the patients were in their early fourth decade with a mean age of 35.4 years. The presenting symptom was dizziness, and the key associated symptoms were anxiety and headache. Due to the orthostatic nature of symptoms and absence of orthostatic fall in blood pressure (BP), a detailed AFT was carried out, leading to the diagnosis of POTS. Patients were assessed at 3-6 months after treatment and there was a moderate response in one and no response in the remaining four patients., Conclusion: POTS should be considered a possible etiology when patients present with orthostatic dizziness in the absence of orthostatic fall in BP. Anxiety and headache may be associated with this type of dizziness., (Copyright © 2024 Copyright: © 2024 Neurology India, Neurological Society of India.)

Introduction: Amyotrophic lateral sclerosis (ALS) is characterized by motor, cognitive, and behavioral impairment. There is a paucity of evidence about the cognitive/behavioral features of ALS patients from India. We aimed to investigate the cognitive/behavioral profile of ALS spectrum disorders in the Indian context., Methods: Sixty patients with ALS spectrum and 40 age-, gender-, and education-matched healthy controls were recruited. The scales used were Addenbrooke's Cognitive Examination (ACE-III), Clinical Dementia Rating (CDR) scale, and Frontal Systems Behavior (FrSBe) Scale., Results: The mean age of the overall cohort was 55 years, and male-to-female ratio was 2.5:1. The mean duration of illness of the cohort was 16 months. Patients were classified as ALS with normal cognition (ALS-cn, n = 21), mild cognitive or behavioral deficits (ALS-ci/-bi, n = 28), and frontotemporal dementia (ALS-FTD, n = 11). ALS-cn had poorer scores compared to healthy controls in global cognition, memory, and language (p < 0.05). ALS-ci/-bi performed poorer than healthy controls on all cognitive domains (p < 0.05). ALS-FTD had poorer scores than healthy controls and ALS-cn on all cognitive domains (p < 0.001). Behavioral assessment showed an increase in apathy among all subtypes. ALS-FTD showed significant worsening in disinhibition and executive function compared to ALS-cn and ALS-ci/-bi., Conclusion: Our findings suggest that there are key cognitive and behavior characteristics in Indian patients with ALS spectrum. This further strengthens the evidence of a cognitive continuum in ALS and FTD in a diverse context and highlights the importance of meticulous evaluation and correct diagnosis that would assist in better management., (© 2024 S. Karger AG, Basel.)

Objective: To segregate imaging expenditures from claims data by resource utilization bands (RUBs) and underlying conditions to create an "expenditure map" of pediatric imaging costs., Methods: A Claims data for children enrolled in a commercial value-based plan were categorized by RUB 0 non-user, 1 healthy user, 2 low morbidity, 3 moderate morbidity, 4 high morbidity, & 5 very high morbidity. The per member per year (PMPY) expense, total imaging spend, and imaging modality with the highest spend were assessed for each RUB. Diagnosis categories associated with high imaging costs were also evaluated., Results: There were 40,022 pediatric plan members. 14% had imaging-related claims accounting for approximately $2.8 million in expenditures. Member distribution and mean PMPY expenditure RUB was respectively: RUB 0 (3,037, $0), RUB 1 (6,604, $7), RUB 2 - 13,698, $27), RUB 3 - 13,341, $87), RUB 4 (2,810, $268), RUB 5 (532, $841). RUB 3 had the largest total imaging costs at $1,159,523. The imaging modality with the greatest mean PMPY expense varied by RUB with radiography highest in lower RUBs and MRI highest in higher RUBs. The top 3 diagnoses associated with the highest total imaging costs were developmental disorders ($443,980), asthma ($388,797), and congenital heart disease ($294,977) and greatest mean PMPY imaging expenditures malignancy/leukemia ($3,100), transplant ($2,639), and tracheostomy ($1,661)., Discussion: Expense mapping using claims data allows for a better understanding of the distribution of imaging costs across a covered pediatric population. This tool may assist organizations in planning effective cost-reduction initiatives and learning how imaging utilization varies by patient complexity in their system., Competing Interests: Declarations of Competing Interest None., (Copyright © 2024. Published by Elsevier Inc.)

Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients. All three patients had a homozygous substitution in intron 5: DES(NM_001927.4):c.1023+5G>A, predicted to cause a donor splice site defect. Muscle biopsy with ultrastructural analysis suggested myopathy with myofibrillar disarray, and immunohistochemistry showed partial loss of desmin with some residual staining, while western blot analysis showed reduced desmin. RT-PCR of patient muscle RNA revealed two transcripts: a reduced normal desmin transcript and a larger abnormal transcript suggesting leaky splicing at the intron 5 donor site. Sequencing of the PCR products confirmed the inclusion of intron 5 in the longer transcript, predicted to cause a premature stop codon. Thus, we provide evidence for a leaky splice site causing partial loss of desmin associated with a unique phenotypic presentation of a milder form of desmin-related recessive myopathy overlapping with congenital myasthenic syndrome., Competing Interests: Declaration of competing interest The authors declare no competing interests., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Introduction   VMA21 -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India. Method  Here, we describe a case of genetically confirmed VMA21 -associated myopathy with clinical, histopathological, and imaging features with a list of known VMA21 mutations. Results  A 29-year-old man had the onset of symptoms at 18 years of age with features of proximal lower limb weakness. Muscle magnetic resonance imaging showed the preferential involvement of vasti and adductor magnus. A biopsy of the left quadriceps femoris showed features of autophagic vacuolar myopathy with vacuoles containing granular eosinophilic materials. In targeted next-generation sequencing, hemizygous mutation in the 3' splice site of intron 2 of the VMA21 gene (c.164-7 T > A) was identified and confirmed the diagnosis of X-linked myopathy with excessive autophagy. Conclusion  This report expands the phenotypic and genotypic profile of VMA21 -related myopathy, with a yet unreported mutation in India., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

DHTKD1 is a nuclear gene that encodes "dehydrogenase E1 and transketolase domain-containing 1", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the DHTKD1 gene, which was previously described in CMT2Q. This report highlights the pleotropic phenotypic presentation of DHTKD1 mutation and the need for genetic testing even in sporadic cases of ALS presenting at a later age.