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Background: Gilles de la Tourette′s Syndrome (GTS) is a neuropsychiatric disorder characterized by motor and vocal tics associated with obsessive compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD). This syndrome is often misdiagnosed as psychiatric disorder, therefore neuropsychiatric evaluation in patients suffering from it is very essential to make the correct diagnosis. Few reports, mostly single case reports of GTS from India have been published, this series attempts to define the clinical spectrum of patients from India. Aim : To study the clinical profile of patients with GTS in India. Setting and Design : Prospective hospital based study. Material and Methods : Ct scan of the head and EEG were done in all the 14 cases in addition to clinical history and detailed neurological examination. The diagnosis of GTS was made according to Tourette Syndrome Classification Study Criteria Group. Findings were statistically analyzed. Results : In all a total of 101 simple motor tics and 21 complex motor tics were observed in 14 cases. Most common site of simple motor tics was the facio-nuchal region (70%) and type was eyebrow raising seen in 10 cases (71%). Commonest type of complex motor tics nose blowing (35%). Vocal tics were found in all 14 cases, simple (56%), being more common than complex vocal tics i.e, coprolalia (42%). Throat clearing was found in (50%) cases and was the most positive in 28%. OCD was seen in 64% and ADHD in 28%. All the 14 cases Responded well to treatment. Conclusion : The clinical profile of patients in our case series is similar to those reported from the western countries with the exception of coprolalia, and ADHD, the incidence of which is higher in this case series.

Background and Objectives: The role of various genetic markers including alpha synuclein, Parkin, etc., is known in the pathogenesis of Parkinson's disease (PD). Novel genetic markers including paraoxonase 1 (PON1) have also been linked to PD pathogenesis in recent studies. The PON1 L55M allele carriers may have defective clearance of environmental toxins and may result in increased susceptibility to PD. Hence, we studied the role of PON1 L55M polymorphism in PD among a North Indian population., Materials and Method: Seventy-four PD patients and 74 age- and sex-matched controls were recruited in this hospital-based case-control study. Baseline characteristics were recorded using structured questionnaire. DNA was extracted from 3-4 ml of venous blood, followed by PCR and restriction digestion. PON1 L55M genotypes were visualized as bands: LL (177 bp), LM (177, 140 bp) and MM (140,44 bp) on 3% agarose gel. Mann-Whitney U test and Chi-squared test were used for comparing two groups of skewed and categorical variables, respectively. Measures of strength of association were calculated by binary regression analysis. P value < 0.05 was considered as significant., Results: Parkinson's disease patients had significantly higher exposure to pesticides (12.2%; P (organophosphate exposure) < 0.001) and well water drinking (28.4%; P = 0.006) compared to controls. Frequency distribution of LL, LM, MM genotypes was 67.5% (50/74), 28.4% (21/74), and 4.1% (3/74), respectively, for cases and 72.6% (54/74), 26% (19/74) and 1.4% (1/74), respectively, for controls. PON1 L55M genotype distribution between Parkinson's disease cases and controls was not significant (P = 0.53). PON1 L55M polymorphism was not associated with PD after adjusting for confounders by binary regression analysis., Conclusion: There was no significant association between PON1 L55M polymorphism and PD. Larger population-based studies would be required from India before drawing any definite conclusions., (Copyright © 2024 Copyright: © 2024 Neurology India, Neurological Society of India.)

Aim: We investigated the historical origins of developmental care for newborn infants using Reference Publication Year Spectroscopy (RPYS), an innovative method of bibliometric analysis., Methods: A Web of Science search query that combined infant and intervention-related synonyms was performed on 2 February 2022. RPYS analysis was performed on this dataset to identify the most referenced historical publications for developmental care in newborn infants. Median deviation analysis identified the peak publication years, including the most cited historical references. Landmark publications were defined as those belonging to the top 10% of the most frequently referenced publications for at least 20 years., Results: The RPYS peaks showed an early phase (1936-1986), during which infant development was studied and analysed, leading to a conceptualisation of developmental care for newborn infants. The following years (1987-2020), showed an explosion of interest in developmental care and highlighted two main programmes. The Neonatal Individualized Developmental Care Assessment Program (NIDCAP) and the Infant Health and Development Program (IHDP) inspired numerous publications during those years, which strove to demonstrate evidence of their clinical benefits., Conclusion: Developmental care has become increasingly important, thanks to the implementation of NIDCAP and IHDP., (© 2023 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Background: Contrast Induced Sialadenitis or Iodide Mumps refers to non-suppurative inflammation of salivary glands following intravenous iodinated contrast administration. It is a rare adverse effect of iodinated contrast with only a few cases reported worldwide. It is hypothesized to be an idiosyncratic reaction due to toxic accumulation of iodine in salivary glands. Case Report: We report a case of a 40-year-old female patient who underwent CECT brain after intravenous injection of 40ml of non-ionic iodinated contrast and developed symmetric painless swelling in bilateral submandibular triangles within five hours of contrast administration. Ultrasound with color doppler and MR imaging was performed which confirmed the diagnosis of contrast induced sialadenitis. Sialadenitis was managed conservatively and resolved slowly over eight days. Conclusion: Though it is a rare self-limiting adverse event of iodinated contrast, it must be known to the radiologist as well as the clinician to avoid unnecessary work up and manage the patient better., Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03575-x., Competing Interests: Competing interestsThe authors declare that they have no competing interests., (© Association of Otolaryngologists of India 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Case: Intrawound vancomycin in spine surgery is a common clinical practice. We report a case of a 14-year-old adolescent girl undergoing surgery for scoliosis correction who developed features of vancomycin flushing syndrome after the use of vancomycin-impregnated bone graft. After resuscitation, she was extubated and had an uneventful postoperative recovery. At 1-year follow-up, she is back to her routine without any sequelae of the intraoperative event., Conclusion: The use of intrawound vancomycin can result in life-threatening reactions. With the increase in its use, the anesthetist and the surgeon must be aware of such complications., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C175)., (Copyright © 2023 by The Journal of Bone and Joint Surgery, Incorporated.)

Competing Interests: There are no conflicts of interest.

A significant risk factor for ischemic stroke is carotid atherosclerotic plaque that is susceptible to rupture, with rupture potential conveyed by plaque morphology. Human carotid plaque composition and structure have been delineated noninvasively and in vivo by evaluating log(VoA), a parameter derived as the decadic log of the second time derivative of displacement induced by an acoustic radiation force impulse (ARFI). In prior work, ARFI-induced displacement was measured using conventional focused tracking; however, this requires a long data acquisition period, thereby reducing framerate. We herein evaluate if ARFI log(VoA) framerate can be increased without a reduction in plaque imaging performance using plane wave tracking instead. In silico, both focused- and plane wave-tracked log(VoA) decreased with increasing echobrightness, quantified as signal-to-noise ratio (SNR), but did not vary with material elasticity for SNRs below 40 dB. For SNRs of 40-60 dB, both focused- and plane wave-tracked log(VoA) varied with SNR and material elasticity. Above 60 dB SNR, both focused- and plane wave-tracked log(VoA) varied with material elasticity alone. This suggests that log(VoA) discriminates features according to a combination of their echobrightness and mechanical property. Further, while both focused- and plane-wave tracked log(VoA) values were artifactually inflated by mechanical reflections at inclusion boundaries, plane wave-tracked log(VoA) was more strongly impacted by off-axis scattering. Applied to three excised human cadaveric carotid plaques with spatially aligned histological validation, both log(VoA) methods detected regions of lipid, collagen, and calcium (CAL) deposits. These findings support that plane wave tracking performs comparably to focused tracking for log(VoA) imaging and that plane wave-tracked log(VoA) is a viable approach to discriminating clinically relevant atherosclerotic plaque features at a 30-fold higher framerate than by focused tracking.

Purpose: To quantitatively assess the dynamic changes of Lactate in lumbar discs under different physiological conditions using MRS and T2r., Methods: In step1, MRS and T2r sequences were standardized in 10 volunteers. Step2, analysed effects of high cellular demand. 66 discs of 20 volunteers with no back pain were evaluated pre-exercise (EX-0), immediately after targeted short-time low back exercises (EX-1) and 60 min after (EX-2). In Step 3, to study effects of high glucose and oxygen concentration, 50 lumbar discs in 10 volunteers were analysed before (D0) and after 10 days intake of the calcium channel blocker, nimodipine (D1)., Results: Lactate showed a distinctly different response to exercise in that Grade 1 discs with a significant decrease in EX-1 and a trend for normalization in Ex-2. In contrast, Pfirrmann grade 2 and 3 and discs above 40 years showed a higher lactate relative to proteoglycan in EX-0, an increase in lactate EX-1 and mild dip in Ex-2. Similarly, following nimodipine, grade 1 discs showed an increase in lactate which was absent in grade 2 and 3 discs. In contrast, exercise and Nimodipine had no significant change in T2r values and MRS spectrum of proteoglycan, N-acetyl aspartate, carbohydrate, choline, creatine, and glutathione across age groups and Pfirrmann grades., Conclusion: MRS documented changes in lactate response to cellular demand which suggested a 'Lactate Symbiotic metabolic Pathway'. The differences in lactate response preceded changes in Proteoglycan/hydration and thus could be a dynamic radiological biomarker of early degeneration., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To probe the pathophysiological basis of Modic change (MC) by multimodal imaging rather than by MRI alone., Methods: Nineteen radiological signs found in mild infections and traumatic endplate fractures were identified by MRI and CT, and by elimination, three signs unique to infection and trauma were distilled. By ranking the Z score, radiological 'Endplate Infection Probability Score' (EIPS) was developed. The score's ability to differentiate infection and traumatic endplate changes (EPC) was validated in a fresh set of 15 patients each, with documented infection and trauma. The EIPS, ESR, CRP, and Numeric Pain Rating Scale (NRS) were then compared between 115 patients with and 80 patients without MC., Results: The EIPS had a confidence of 66.4%, 83% and, 100% for scores of 4, 5 and, 6, respectively, for end plate changes suggesting infection. The mean EIPS was 4.85 ± 1.94 in patients with Modic changes compared to - 0.66 ± 0.49 in patients without Modic changes (p < 0.001). Seventy-eight (67.64%) patients with MC had a score of 6, indicating high infection possibility. There was a difference in the NRS (p < 0.01), ESR (p = 0.05), CRP (p < 0.01), and type of pain (p < 0.01) between patients with and without MC., Conclusion: Multimodal imaging showed many radiological signs not easily seen in MRI alone and thus missed in Modic classification. There were distinct radiological differences between EPCs of trauma and infection which allowed the development of an EIPS. The scores showed that 67.64% of our study patients with Modic changes had EPCs resembling infection rather than trauma suggesting the possibility of an infective aetiology and allowing us to propose an alternate theory of 'Primary Endplatitis'., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Histatin-5 (Hist-5) is a polycationic, histidine-rich antimicrobial peptide with potent antifungal activity against the opportunistic fungal pathogen Candida albicans . Hist-5 can bind metals in vitro, and metals have been shown to alter the fungicidal activity of the peptide. Previous reports on the effect of Zn 2+ on Hist-5 activity have been varied and seemingly contradictory. Here, we present data elucidating the dynamic role Zn 2+ plays as an inhibitory switch to regulate Hist-5 fungicidal activity. A novel fluorescently labeled Hist-5 peptide (Hist-5*) was developed to visualize changes in internalization and localization of the peptide as a function of metal availability in the growth medium. Hist-5* was verified for use as a model peptide and retained antifungal activity and mode of action similar to native Hist-5. Cellular growth assays showed that Zn 2+ had a concentration-dependent inhibitory effect on Hist-5 antifungal activity. Imaging by confocal microscopy revealed that equimolar concentrations of Zn 2+ kept the peptide localized along the cell periphery rather than internalizing, thus preventing cytotoxicity and membrane disruption. However, the Zn-induced decrease in Hist-5 activity and uptake was rescued by decreasing the Zn 2+ availability upon addition of a metal chelator EDTA or S100A12, a Zn-binding protein involved in the innate immune response. These results lead us to suggest a model wherein commensal C. albicans may exist in harmony with Hist-5 at concentrations of Zn 2+ that inhibit peptide internalization and antifungal activity. Activation of host immune processes that initiate Zn-sequestering mechanisms of nutritional immunity could trigger Hist-5 internalization and cell killing.

Background: Migraine is one of the primary headaches having a global prevalence of 15%. It is characterized by neurovascular dysfunction and recurrent episodes of headache. The hyperexcitability of the cerebral cortex has been recognized as an important factor in the pathogenesis of migraine, and magnesium (Mg) being a regulator of neuronal excitability is thought to participate in migraine pathogenesis., Objectives: To determine the serum levels of Mg in patients of migraine during the attack and in between attacks as compared to healthy controls., Methods: A total of 50 patients of migraine who fulfilled inclusion criteria were enrolled in the study along with the same number of healthy controls. International Classification of Headache Disorders 3 rd Edition, 2013 (ICHD-III) criteria was used for the diagnosis of migraine., Results: The mean serum Mg in migraine cases during the interictal phase was lower than healthy controls (1.849 ± 0.135 vs 2.090 ± 0.205, P < 0.001), which was statistically significant. It was also found that mean serum Mg during attacks was significantly lower than in between attacks (1.822 ± 0.149 vs 1.849 ± 0.135, P = 0.003). Serum Mg levels in migraine cases showed an inverse linear relationship with the frequency of attacks., Conclusion: Relatively low serum Mg in migraine cases when compared with healthy controls and inverse relation of serum Mg levels with the frequency of migraine attacks suggests that Mg is significantly involved in mechanisms underlying migraine pathogenesis, which can be explored as a therapeutic option., Competing Interests: None

Shear wave elastography (SWE) is an ultrasound-based stiffness quantification technology that is used for noninvasive liver fibrosis assessment. However, despite widescale clinical adoption, SWE is largely unused by preclinical researchers and drug developers for studies of liver disease progression in small animal models due to significant experimental, technical, and reproducibility challenges. Therefore, the aim of this work was to develop a tool designed specifically for assessing liver stiffness and echogenicity in small animals to better enable longitudinal preclinical studies. A high-frequency linear array transducer (12-24 MHz) was integrated into a robotic small animal ultrasound system (Vega; SonoVol, Inc., Durham, NC) to perform liver stiffness and echogenicity measurements in three dimensions. The instrument was validated with tissue-mimicking phantoms and a mouse model of nonalcoholic steatohepatitis. Female C57BL/6J mice (n = 40) were placed on choline-deficient, L-amino acid-defined, high-fat diet and imaged longitudinally for 15 weeks. A subset was sacrificed after each imaging timepoint (n = 5) for histological validation, and analyses of receiver operating characteristic (ROC) curves were performed. Results demonstrated that robotic measurements of echogenicity and stiffness were most strongly correlated with macrovesicular steatosis (R 2  = 0.891) and fibrosis (R 2  = 0.839), respectively. For diagnostic classification of fibrosis (Ishak score), areas under ROC (AUROCs) curves were 0.969 for ≥Ishak1, 0.984 for ≥Ishak2, 0.980 for ≥Ishak3, and 0.969 for ≥Ishak4. For classification of macrovesicular steatosis (S-score), AUROCs were 1.00 for ≥S2 and 0.997 for ≥S3. Average scanning and analysis time was <5 minutes/liver. Conclusion: Robotic SWE in small animals is feasible and sensitive to small changes in liver disease state, facilitating in vivo staging of rodent liver disease with minimal sonographic expertise., (© 2022 SonoVol, Inc and University of North Carolina. Hepatology Communications published by Wiley Periodicals LLC on behalf of American Association for the Study of Liver Diseases.)

Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30-40% of ataxia cohort globally). The experience of 10 years of common genetic ataxia subtypes for ≈5600 patients' referrals (Pan-India) received at a single center is shared herein. Frequencies (in %, n) of SCA types and FRDA in the sample cohort are observed as follows: SCA12 (8.6%, 490); SCA2 (8.5%, 482); SCA1 (4.8%, 272); SCA3 (2%, 113); SCA7 (0.5%, 28); SCA6 (0.1%, 05); SCA17 (0.1%, 05), and FRDA (2.2%, 127). A significant amount of variability in TRE lengths at each locus is observed, we noted presence of biallelic expansion, co-occurrence of SCA-subtypes, and the presence of premutable normal alleles. The frequency of mutated GAA-FRDA allele in healthy controls is 1/158 (0.63%), thus an expected FRDA prevalence of 1:100 000 persons. The data of this study are relevant not only for clinical decision making but also for guidance in direction of genetic investigations, transancestral comparison of genotypes, and lastly provide insight for policy decision for the consideration of SCAs under rare disease category., Competing Interests: The authors declare no conflict of interest., (© 2022 The Authors. Advanced Genetics published by Wiley Periodicals LLC.)

Cognitive function is a crucial determinant of human capital. The Lancet Commission (2020) has recognized air pollution as a risk factor for dementia. However, the scientific evidence on the impact of air pollution on cognitive outcomes across the life course and across different income settings, with varying levels of air pollution, needs further exploration. A systematic review was conducted, using Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) Guidelines to assess the association between air pollution and cognitive outcomes across the life course with a plan to analyze findings as per the income status of the study population. The PubMed search included keywords related to cognition and to pollution (in their titles) to identify studies on human participants published in English until 10 July 2020. The search yielded 84 relevant studies that described associations between exposure to air pollutants and an increased risk of lower cognitive function among children and adolescents, cognitive impairment and decline among adults, and dementia among older adults with supportive evidence of neuroimaging and inflammatory biomarkers. No study from low- and middle-income countries (LMICs)was identified despite high levels of air pollutants and high rates of dementia. To conclude, air pollution may impair cognitive function across the life-course, but a paucity of studies from reLMICs is a major lacuna in research.

Degeneration of the intervertebral disc is associated with a decrease in extra-cellular matrix (ECM) content due to an imbalance in anabolic and catabolic signaling. Our previous study profiled the core matrisome of fetal NP's and identified various proteins with anabolic potential for regenerative therapies. This study aims to complement those results by exploring ECM regulators, associated proteins and secreted factors of the fetal nucleus pulposus (NP). Proteomic data of 9 fetal, 7 healthy adults (age 22-79), and 11 degenerated NP's was analyzed. Based on the selection criteria, a total of 45 proteins were identified, of which 14 were uniquely expressed or upregulated in fetus compared to adult NP's. Pathway analysis with these proteins revealed a significant upregulation of one pathway and two biological processes, in which 12 proteins were involved. Prolyl 4 hydroxylase (P4HA) 1 and 2, Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (PLOD) 1, and Heat shock protein 47 (SERPINH1) were involved in 'collagen biosynthesis' pathway. In addition, PLOD 1, SERPINH1, Annexin A1 and A4, CD109 and Galectin 3 (LGALS3) were all involved in biological process of 'tissue development'. Furthermore Annexin A1, A4 and A5, LGALS-3 and SERPINF1 were featured in 'negative regulation of cell death'. In conclusion, additionally to core ECM proteome, this study reveals ECM regulators and ECM affiliated proteins of interest to study for regenerative therapies, and their potential should be validated in future mechanistic experiments., (© 2021. The Author(s).)

Objective: To undertake a genome-wide association study (GWAS) to identify genetic variants for stroke in an Indian population., Methods: In a hospital-based case-control study, 8 teaching hospitals in India recruited 4,088 participants, including 1,609 stroke cases. Imputed genetic variants were tested for association with stroke subtypes using both single-marker and gene-based tests. Association with vascular risk factors was performed with logistic regression. Various databases were searched for replication, functional annotation, and association with related traits. Status of candidate genes previously reported in the Indian population was also checked., Results: Associations of vascular risk factors with stroke were similar to previous reports and show modifiable risk factors such as hypertension, smoking, and alcohol consumption as having the highest effect. Single-marker-based association revealed 2 loci for cardioembolic stroke (1p21 and 16q24), 2 for small vessel disease stroke (3p26 and 16p13), and 4 for hemorrhagic stroke (3q24, 5q33, 6q13, and 19q13) at p < 5 × 10 -8 . The index single nucleotide polymorphism of 1p21 is an expression quantitative trait locus ( p lowest = 1.74 × 10 -58 ) for RWDD3 involved in SUMOylation and is associated with platelet distribution width (1.15 × 10 -9 ) and 18-carbon fatty acid metabolism ( p = 7.36 × 10 -12 ). In gene-based analysis, we identified 3 genes ( SLC17A2 , FAM73A , and OR52L1 ) at p < 2.7 × 10 -6 . Eleven of 32 candidate gene loci studied in an Indian population replicated ( p < 0.05), and 21 of 32 loci identified through previous GWAS replicated according to directionality of effect., Conclusions: This GWAS of stroke in an Indian population identified novel loci and replicated previously known loci. Genetic variants in the SUMOylation pathway, which has been implicated in brain ischemia, were identified for association with stroke., (© 2021 American Academy of Neurology.)

Competing Interests: None

Background: Pain is a common and distressing symptom of Parkinson's disease (PD). The relation of pain, its predictors, and its impact on quality of life (QoL) in PD has not been studied in Indian PD patients., Objective: To assess the predictors of pain and investigate its impact on QoL among Indian PD patients., Methodology: We conducted a cross-sectional study on 100 PD patients. The cases were diagnosed according to the UK brain bank criteria. Unified PD Rating Scale (UPDRS) parts III, V, and VI were employed to assess the severity of the disease. King's Parkinson Disease Pain Scale (KPPS) and PD questionnaire-8 (PDQ-8) were used to evaluate pain and QoL, respectively., Results: Prevalence of different pain types in patients with PD was 70%, mainly including musculoskeletal (53%), fluctuation-related (35%), and nocturnal pain (27%). Subjects with pain developed PD symptoms at a younger age and had a longer duration of the disease. A positive correlation was found between KPPS scores and UPDRS parts III and V, while a negative correlation was observed with UPDRS part VI. Pain in PD subjects had a significant impact on the QoL., Conclusions: Most of the PD patients suffered some form of pain with significant correlations with motor disability and poor QoL. Predictors of pain severity among PD patients included a longer disease duration, younger age of disease onset, and a higher levodopa equivalent daily dose (LEDD)., Competing Interests: None

Competing Interests: There are no conflicts of interest.

Objective  The aim of the study is to visually rate major forms of dementia using global cortical atrophy (GCA), medial temporal lobe atrophy (MTA), and Fazeka's scales and Koedam's score using magnetic resonance imaging (MRI). The purpose is to correlate the visual rating scales (VRS) with severity of dementia. Materials and Methods  Thirty patients fulfilling DSM 5 (Diagnostic and Statistical Manual of Mental Disorders) criteria for Alzheimer's dementia (AD), vascular dementia (VaD), and frontotemporal dementia (FTD) underwent MRI brain. Cortical atrophy, medial temporal, and parietal lobe atrophy were assessed using GCA and MTA scales and Koedam's score, respectively. White matter hyperintensities were assessed using Fazeka's scale. Correlation between VRS and mini-mental state exam (MMSE) scores was done using Pearson correlation coefficient. Results  70% of patients had Grade 2 GCA. More patients with AD had higher MTA scores as compared with others with 57% of AD patients showing abnormal for age MTA scores. Fazeka's scale was abnormal for age in 58.33% of VaD and 57% AD patients. Majority (75%) showing severe parietal atrophy (Grade 3 Koedam's score) were AD patients. Disproportionate frontal lobe atrophy was seen in all four (100%) FTD patients. Significant negative correlation was seen between MMSE and GCA scores of all patients ( p -value = 0.003) as well as between MTA and MMSE scores in AD patients ( p -value = 0.00095). Conclusion  Visual rating of MTA is a reliable method for detecting AD and correlates strongly with memory scores. Atrophy of specific regions is seen more commonly in some conditions, for instance, where MTA and parietal atrophy are specific for AD while asymmetric frontal lobe and temporal pole atrophy favor FTD., Competing Interests: Authors’ ContributionsEthical ApprovalConflict of Interest S. K. and K. V. analyzed and interpreted the patient data regarding the radiological findings. S. K. and S. C. made substantial contributions to the acquisition, analysis, and interpretation of data, confirmed by K. V. and R. K. D. S. K. and K. V. were major contributors in writing the manuscript. All five authors read and approved the final manuscript. K. S. A. and R. K. D. made substantial contributions to the review of the manuscript. S. K. and S. C. drafted the work. K. V. substantively revised it. K. V. has agreed both to be personally accountable for own contributions and to ensure that questions related to the accuracy or integrity of any part of the work are appropriately investigated, resolved, and the resolution documented in the literature. The work is approved by institutional review board. None declared., (Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.).)

Introduction: HIV/AIDS is a chronic multisystem disease and about 70% develop neurologic complications (including distal symmetric polyneuropathy (DSPN) any time during their life. DSPN is also a very common toxicity of drugs used to treat HIV infection. Little is known about the impact of HIV per se or other factors (apart from drugs) on the occurrence of DSPN in these patients., Methods: It was a cross sectional, observational study, done at the department of Medicine, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi, India. Ninety consecutive 18-40 years old HIV infected but treatment naïve (ART naïve) cases and 30 age and sex matched healthy controls were recruited for this study., Results: Out of 90 cases, 12 (13.4%) had DSPN (8 males and 4 females). The mean CD4 counts of these cases with and without DSPN was 294.73/μl and 370.84/μl respectively. Only 3 out of these 12 cases were symptomatic on presentation and rest nine were diagnosed on NCV study. No control had abnormal NCV. Presence of DSPN was found to be directly associated with infection with HIV per se (p<0.001) along with duration of HIV infection (p<0.01) and level of immunodeficiency (p<0.001)., Conclusion: This study demonstrates that DSPN is already present in 13.4% of treatment naive patients with HIV/AIDS and even with milder immunodeficiency and at early stages of disease. Not only HAART but HIV by itself is a major causative risk factor for DSPN in these patients., (© Journal of the Association of Physicians of India 2011.)

Competing Interests: There are no conflicts of interest.

Competing Interests: There are no conflicts of interest.

Background: To document the role of sub-clinical infections in disc disorders and investigate the existence of microbiome in intervertebral discs (IVD)., Methods: Genomic DNA from 24 lumbar IVDs [8-MRI normal discs (ND) from brain dead yet alive organ donors, 8-disc herniation (DH), 8-disc degeneration (DD)] was subjected to 16SrRNA sequencing for profiling the diversity of human disc microbiome in health and disease. The disc microbiome was further compared to established human gut and skin microbiomes., Results: All healthy MRI normal discs from brain dead yet alive organ donors also had a rich bacterial presence. A total of 424 different species (355-ND, 346-DD, and 322-DH) were detected, with 42.75% OTUs being classified at kingdom level, 44% at the phylum level, 22.62% at genus level, and 5.5% at species level. Varying biodiversity and abundance between healthy and diseased discs were documented with protective bacteria being abundant in normal discs, and putative pathogens abundant in DD and DH. Propionibacterium acnes had a similar but lower abundance to other pathogens in all three groups ND (3.07%), DD (3.88%), DH (1.56%). Fifty-eight bacteria were common between gut and IVD microbiomes, 29 between skin and IVD microbiomes, and six common to gut/skin/IVD., Conclusion: Our study challenges the hitherto concept of sterility in healthy IVD and documented a microbiome even in MRI normal healthy discs. The varying abundance of bacteria between ND, DD, and DH documents 'dysbiosis' as a possible etiology of DD. Many known pathogens were identified in greater abundance than Propionibacterium acnes, and there was evidence for the presence of the gut/skin/spine microbiome axis.

Background: The diagnostic workup for choreiform movement disorders including Huntington's disease (HD) and those mimicking HD like phenotype is complex., Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India., Materials and Methods: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion., Results: 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41- 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion., Conclusion: We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.