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1.
Int J Biol Macromol ; 266(Pt 2): 131400, 2024 May.
Article in English | MEDLINE | ID: mdl-38582480

ABSTRACT

The aim of the present research is to fabricate a biosorbent using agricultural waste for removal of uranium from contaminated water i.e. "waste to wealth" approach. Cellulose extracted from wheat straw was mercerized and a novel semi-interpenetrating polymer network (semi-IPN) was fabricated through graft copolymerization of polyvinyl alcohol onto hybrid mercerized cellulose + collagen backbone. Response surface methodology was used for optimization of different reaction parameters as a function of % grafting (195.1 %) was carried out. Semi-IPN was found to possess higher thermal stability. Adsorption results revealed that the optimum parameters for the elimination of uranium using semi-IPN were: adsorbent dose = 0.15 g, pH = 6.0, contact time = 120 min and initial U (VI) concentration = 100 µg/L. The pseudo-second-order kinetic model gave the best description of the adsorption equilibrium data as the calculated qe value is nearest to the experimental qe for the different initial U(VI) concentrations. Adsorption experiments followed Langmuir isotherm with R2 = 0.999. Furthermore, recyclability and reusability studies showed that the adsorption efficiency of semi-IPN was 82 % after 5 cycles indicating the superior recycling execution of fabricated biosorbent. Thus, the fabricated ecofriendly device can be used effectively for the removal of uranium from contaminated wastewater sources.


Subject(s)
Cellulose , Collagen , Uranium , Water Purification , Uranium/chemistry , Cellulose/chemistry , Adsorption , Water Purification/methods , Kinetics , Collagen/chemistry , Hydrogen-Ion Concentration , Water Pollutants, Chemical/chemistry , Water Pollutants, Chemical/isolation & purification , Temperature , Ions/chemistry
2.
Nucleic Acids Res ; 52(D1): D1210-D1217, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-38183204

ABSTRACT

The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer.sanger.ac.uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in cancer, supported by a comprehensive suite of tools for interpreting genomic data, discerning the impact of somatic alterations on disease, and facilitating translational research. The catalogue is accessed and used by thousands of cancer researchers and clinicians daily, allowing them to quickly access information from an immense pool of data curated from over 29 thousand scientific publications and large studies. Within the last 4 years, COSMIC has substantially expanded its utility by adding new resources: the Mutational Signatures catalogue, the Cancer Mutation Census, and Actionability. To improve data accessibility and interoperability, somatic variants have received stable genomic identifiers that are associated with their genomic coordinates in GRCh37 and GRCh38, and new export files with reduced data redundancy have been made available for download.


Subject(s)
Databases, Genetic , Genomics , Neoplasms , Humans , Databases, Factual , Knowledge Bases , Mutation , Neoplasms/genetics , Databases, Genetic/trends , Internet
3.
Plant Methods ; 19(1): 114, 2023 Oct 27.
Article in English | MEDLINE | ID: mdl-37891607

ABSTRACT

Rubus species holds promise as a valuable source of polyphenols and bioactive compounds, offering significant potential as functional food ingredients with both nutraceutical and pharmaceutical benefits. However, many edible species within this genus remain under-explored and their importance is largely unrecognized. This review aims to provide an overview of the nutritional and bioactive components of both explored and under-explored Rubus species, highlighting their potential health advantages, value addition, and recent advancements. The economic exploitation of Rubus is currently limited to a few cultivated species, while numerous non-conventional and wild edible species are overlooked. Recognizing the economic and nutritional significance of exploited Rubus species, it is imperative to explore the untapped potential of these underutilized plants. By doing so, these species can be preserved from endangerment and contribute to nutritional and livelihood security for communities having access to them. This review emphasizes the importance of understanding the exceptional characteristics of Rubus species as "superfoods" and encourages the promotion and cultivation of these unexplored species. By expanding the cultivation and utilization of under-explored Rubus species, we can unlock their full potential and support sustainable nutritional and economic benefits.

4.
Indian J Otolaryngol Head Neck Surg ; 75(Suppl 1): 984-993, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37206793

ABSTRACT

OBJECTIVE: We report four cases of migraine induced epistaxis and reviewed the published literature of migraine with epistaxis to establish demographic profiles, types of migraine, severity, family history of headache and other associated disorders in adults. METHODS: A panoramic search of the Medline database through Pubmed was done in May 2022 using search terms: {Migraine with Epistaxis}, case reports. All articles/case reports in English from January 2001 to April 2022 where age of patients was > 18 years were included in our review. RESULTS: Our search recognized total of three cases and with inclusion of the four cases who reported to us, we reviewed these seven cases and studied demographic profile, clinical features, association of epistaxis with types and severity of migraine and relationship with other medical disorders. Mean age of presentation was 28.7 years (range 18-49), with five female and two male patients. The intensity of headache was severe in three of seven cases and there was one case each of moderate and mild category. Five of seven (71%) patients had reduction in intensity of headache with onset of bleeding and various types of migraine (Migraine with and without Aura, vestibular migraine, sporadic familial hemiplegic migraine) according to ICHD classification were associated with epistaxis. Four of seven had positive family history of migraine. There was no diagnostic finding in any patient and all patients responded to migraine preventive medication. CONCLUSION: Recurrent epistaxis is not so uncommon manifestation of various types of migraine and specialist should keep this clinical diagnosis in mind to avoid misdiagnosis.

5.
Environ Monit Assess ; 195(4): 467, 2023 Mar 14.
Article in English | MEDLINE | ID: mdl-36917357

ABSTRACT

Soil application of pyrolyzed biomass (biochar) has been proposed as an effective strategy for managing degraded land, but its limitations as a sole nutrient supplier discourage its widespread application as a soil amendment. Excessive use of saline water for irrigation leads to buildup of salts and other toxic ions, which cause a decline in the availability of essential nutrients due to negative effects on the mineralization process. Therefore, a long-term incubation experiment was conducted for 52 weeks to study the individual or combined impact of pyrolyzed [biochar derived from rice residue (RB)] and unpyrolyzed organic materials [rice residue (RR) and animal manure (AM)] on nitrogen (N) dynamics in soil irrigated with water of varying electrical conductivity (EC) (EC0.3 [non-saline canal water), EC10, and EC15 dS m-1 (saline)]. Increasing salinity had an adverse effect on N mineralization, reducing it by 20-70% during the incubation period. Irrespective of the EC, soil amended with AM showed greater and faster N mineralization than unamended control, while individual application of RB or RR showed immobilization of N during the early period of incubation. However, conjoint application of pyrolyzed (RB) and unpyrolyzed organic materials (RR or AM) showed enhanced mineralized N content (26-96%) compared with the sole biochar-amended soil irrigated with water of different EC levels. It was most likely due to the synergic effect of unpyrolyzed materials on the mineralization rate of biochar. On the other hand, the high cation exchange capacity, large surface area, and greater total porosity of the biochar may cause stronger adsorption of free NH4+-N released from the labile organic amendments, thereby moderating the N mineralization process under saline conditions. Therefore, it is recommended that biochar be used in conjunction with AM or RR to ensure the prolonged availability of N in a saline environment.


Subject(s)
Nitrogen , Soil , Animals , Soil/chemistry , Nitrogen/analysis , Environmental Monitoring , Charcoal/chemistry , Saline Waters , Manure
6.
Environ Res ; 217: 114733, 2023 01 15.
Article in English | MEDLINE | ID: mdl-36402185

ABSTRACT

Biochar has been evaluated globally to improve soil fertility and mitigate climate change. However, the long-term effects of successive biochar application on carbon (C) accumulation in soil irrigated with saline versus non-saline water (canal water) has not been investigated. A field experiment was conducted to study the effects of rice straw biochar addition rates (0, 2, 4, 8 Mg ha-1) on C storage in soil irrigated with water of different electrical conductivity [EC, dS m-1]; 0.3 (non-saline canal irrigation water; CIW), 5 (saline irrigation water; SIW5), 10 (SIW10), and 15 (SIW15) in a cotton-wheat system. Long-term irrigation with saline water of variable EC levels adversely affected soil functions, reducing above-ground biomass in cotton (12-48%) and wheat (5-27%). In contrast, plots irrigated with saline water but amended with rice straw biochar showed significant improvement in aboveground biomass (both in cotton and wheat), possibly due to its beneficial effects on soil properties such as soil EC, organic carbon, microbial population, water and nutrient availability, bulk density, soil aggregation, and proliferation of roots. Interestingly, the change in total organic C (TOC) stocks (8.5, 17, and 27.5 Mg C ha-1) after 5 years were found to be almost double the amount of biochar C added (4.3, 8.6, 17.2 Mg ha-1), indicating stabilization of belowground C inputs from the root biomass by the applied biochar and also possibly through its physical interaction with aggregates and minerals. Even though biochar application to saline water irrigated plots increased the contribution of plant-derived C to overall soil TOC stocks, it was still lower compared with canal water irrigated plots. The study conclusively established that the long-term stabilization of biogenic C through biochar has essential implications for mitigating climate change by accumulating additional C beyond the recalcitrant C contained in biochar.


Subject(s)
Carbon , Oryza , Soil , Charcoal
7.
Zootaxa ; 5325(1): 123-132, 2023 Aug 07.
Article in English | MEDLINE | ID: mdl-38220921

ABSTRACT

This paper is another contribution to knowledge of the caddisfly fauna of India. Here we describe and illustrate three new species of Dolophilodes Ulmer 1909: D. dhritiae sp. nov., D. similis sp. nov., and D. laminata sp. nov. all from Singalila National Park, West Bengal. With these additions, genus Dolophilodes is now represented by 9 species from India.


Subject(s)
Holometabola , Insecta , Animals , Parks, Recreational , India
8.
Indian J Otolaryngol Head Neck Surg ; 74(Suppl 2): 1651-1660, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36452813

ABSTRACT

The purpose of this study was assessment of reliability, validity & responsiveness of Hindi version of SNOT 22. 110 cases and controls were recruited in this prospective study. The internal consistency, test-retest reproducibility, construct & criterion validity, and responsiveness of Hindi version of SNOT 22 were assessed. Hindi SNOT 22 showed a good internal consistency (Cronbach's alpha (α) in cases = 0.823 and in controls = 0.868). Physical and Quality of life subscales also showed good internal consistency (α of 0.711 and 0.87 respectively). Test-retest reproducibility using Spearman's rank correlation coefficient (rs) showed very high correlation (rs = 0.939). There was significant difference in scores (p < 0.00001) between cases and controls (46.99 ± 13.97 and 07.58 ± 6.772 respectively). The mean pre and post-operative scores were 53.43 ± 12.241 and 20.50 ± 06.679 respectively with a significant difference (p = 0.000002) and a large effect size (Hedge's g = 2.34). Hindi SNOT 22 showed a moderate correlation with visual analogue scale (rs = 0.663) and a low correlation with Lund Mackay staging (rs = 0.388). The Hindi version of SNOT 22 is a valid, reliable and a responsive patient reported outcome measure instrument for assessment of chronic rhinosinusitis in adults. It retains most of the important characteristics of the source version (SNOT 22). This can be used as a clinical as well as research tool to aid in diagnosis, to assess quality of life as well as monitoring treatment strategies in the field of CRS in Hindi speaking patients. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-021-02808-1.

9.
Indian J Anaesth ; 66(8): 579-584, 2022 Aug.
Article in English | MEDLINE | ID: mdl-36274799

ABSTRACT

Background and Aims: This study assessed the applicability of C-MAC videolaryngoscope (VL) D-blade for awake intubation in patients with laryngeal tumour. The primary study objective was to determine the rate of successful intubation in the first attempt. The other parameters recorded were number of attempts required for intubation, duration of different stages of intubation, haemodynamics, ease of intubation and patient comfort on visual analogue scale (VAS) postoperatively. Methods: Thirty patients were studied. Patients were sedated with dexmedetomidine and fentanyl as a slow bolus (over 20 min) and Ramsay sedation score was assessed. Topicalisation of the oropharynx, tonsillar pillars and base of the tongue was done with lignocaine 10% spray. Four ml of 4% lignocaine using MADgic atomiser was used for anaesthetising the glottis and the tracheal lumen. Results: Successful intubation was achieved in 86.6% patients in first attempt and 13.3% in two attempts. Total time for all intubations was less than 30 seconds. Fremantle score was F-1-C-MAC D-blade (easy intubation with full view) in 60% patients, while 23.3% had F-2-C-MAC D-blade (full view and either required more than one attempt or a modified technique), 13.3% had P-1-C-MAC D-blade (partial view with easy intubation) and 3.3% had P-2-C-MAC D-blade (partial view and required more than one attempt or a modified technique). The VAS score for anaesthesiologist's ease and for patient's experience was 85.83 ± 7.20 and 86.66 ± 14.46, respectively. Conclusion: C-MAC VL D-blade-assisted awake intubation is an effective and safe method to manage the airway of patients with laryngeal tumour once adequate topicalisation is ensured before the procedure.

10.
Indian J Otolaryngol Head Neck Surg ; 74(2): 196-204, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35813770

ABSTRACT

Susac Syndrome (SS) is a rare unique autoimmune underdiagnosed disorder characterized by the clinical triad of central nervous system (CNS) dysfunction, sensorineural hearing impairment, and branch retinal artery occlusion (BRAO). Objectives The purpose of reporting the case is to succinctly highlight this enigmatic condition with focus on otological and audiological aspect of SS and also to augment awareness of this disease among otolaryngologists neurologists, psychiatrists and ophthalmologists. Additionally we reviewed the otological menifestations and audiological findings related to SS. Methods A case of 38 year old female is presented with bilateral SNHL as the initial symptom of SS. The review of otological and audiological findings of previous 10 year case reports was executed using the PRISMA protocol on 20 cases. Results It was seen that inspite of the ear being one of the main organs involved in the SS very few had undergone detailed audiological assessment. Our review of literature showed that only 40% cases had done audiological assessment other than PTA, out of which only 5% had undergone complete audiological workup. 30% of the patients were having auditory symptoms as presenting chief complaint. Conclusion Otolyryngologists should keep SS in differentials when a case of SNHL of unknown etiology is encountered.We emphasize the use newer noninvasive Powered by Editorial Manager® and ProduXion Manager® from Aries Systems Corporation diagnostic tools like Optical coherence tomography (OCT), MRI and detailed audiological tests for timely diagnosis of SS. Further multidisciplinary assessment protocols should be used to prevent the development of severe sequelae.

11.
Plant Sci ; 320: 111306, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35643601

ABSTRACT

Abiotic stresses impose a huge threat to agricultural productivity and global food security. To counter this challenge, the precise identification of the right candidate gene (s) for conferring abiotic stress tolerance without compromising the growth and yield is crucial. OsSalT is identified as a salt stress responsive gene located on SalTol QTL of chromosome 1 of rice, however, there is no genetic evidence of its function and probable pathway of its regulation. To get better insights into its functioning, earlier we elucidated the structure of SALT protein at atomic scale {PDB ID (5GVY)} and solution state that provided key clues on the probable mode of its action. Herein, we report the modulation of OsSalT gene in response to various factors and its functional characterization. Results indicate that OsSalT operates through both abscisic acid and gibberellic acid-dependent pathways and is linked to the adaptive stress mechanisms of plants. Its overexpression in a model plant resulted in improved salinity and drought stress tolerance. The OsSalT transformed plants also showed vigorous root growth, early flowering, and better seed germination. The triggering of multiple responses by OsSalT suggested that modulation of such mannose-binding lectin could be a potential game-changer for the improvement of many crops in future.


Subject(s)
Oryza , Droughts , Gene Expression Regulation, Plant , Oryza/metabolism , Plants , Salinity , Stress, Physiological/genetics
12.
J Healthc Eng ; 2022: 4096950, 2022.
Article in English | MEDLINE | ID: mdl-35368915

ABSTRACT

Individuals with pre-existing diabetes seem to be vulnerable to the COVID-19 due to changes in blood sugar levels and diabetes complications. As observed globally, around 20-50% of individuals affected by coronavirus had diabetes. However, there is no recent finding that diabetic patients are more prone to contract COVID-19 than nondiabetic patients. However, a few recent findings have observed that it could be at least twice as likely to die from complications of diabetes. Considering the multifold mortality rate of COVID-19 in diabetic patients, this study proposes a COVID-19 risk prediction model for diabetic patients using a fuzzy inference system and machine learning approaches. This study aimed to estimate the risk level of COVID-19 in diabetic patients without a medical practitioner's advice for timely action and overcoming the multifold mortality rate of COVID-19 in diabetic patients. The proposed model takes eight input parameters, which were found as the most influential symptoms in diabetic patients. With the help of the various state-of-the-art machine learning techniques, fifteen models were built over the rule base. CatBoost classifier gives the best accuracy, recall, precision, F1 score, and kappa score. After hyper-parameter optimization, CatBoost classifier showed 76% accuracy and improvements in the recall, precision, F1 score, and kappa score, followed by logistic regression and XGBoost with 75.1% and 74.7% accuracy. Stratified k-fold cross-validation is used for validation purposes.


Subject(s)
COVID-19 , Diabetes Mellitus , Algorithms , Humans , Logistic Models , Machine Learning
14.
Zootaxa ; 5068(3): 355-377, 2021 Nov 17.
Article in English | MEDLINE | ID: mdl-34810704

ABSTRACT

The present paper adds to the knowledge of the family Mantispidae from India. Herein we describe two new Euclimacia species: E. similis sp. nov. from Madhya Pradesh and E. nicobarica sp. nov. from Andaman Nicobar Islands. A new combination is also proposed: Mantispilla coorgensis (Ohl, 2004a) comb. nov. With these additions, the family is now represented in India by 22 species in eight genera.


Subject(s)
Holometabola , Animals , India , Insecta
15.
Zootaxa ; 5047(3): 342-352, 2021 Sep 30.
Article in English | MEDLINE | ID: mdl-34810843

ABSTRACT

This paper is another contribution to knowledge of the caddisfly fauna of India. We redescribe and illustrate Diplectrona marginata Betten 1909 based on previously collected material as well as from fresh collections. The status of D. marginata is validated after Betten (1909) and Martynov (1935) and a neotype is designated for D. marginata because the remaining syntype has been damaged and is not identifiable. Furthermore, D. kinulta Olh et al. 2020 is considered a synonym of D. marginata based on the similarity of male genitalia. Diplectrona aurovittata (Ulmer 1906) is reported for the first time from India, bringing the number of Indian species of Diplectrona to 10.


Subject(s)
Holometabola , Insecta , Animals , India , Male
16.
J Environ Manage ; 295: 113277, 2021 Oct 01.
Article in English | MEDLINE | ID: mdl-34348432

ABSTRACT

Applications of biochar to degraded soils have attracted considerable interest because of its capacity to enhance nutrients availability to the plants, sequester C and immobilize organic and inorganic pollutants. A five-year field experiment was conducted in a cotton-wheat system to investigate the effect of different levels of irrigation water salinity (0.3, 5, 10, and 15 dS m-1) and rice straw biochar (0, 2, 4, and 8 t ha-1) on the crop yield and soil functions. Rice straw-derived biochar was applied every year to cotton and its residual effect was observed on wheat. Results of the study indicated that regular irrigation with saline water (5-15 dS m-1) reduced both seed cotton (12-44%) and wheat grain (7-27%) yield. However, application of biochar (2-8 t ha-1) to plots irrigated with saline water showed 6-23% and 13-27% greater seed cotton and wheat grain yield compared with unamended plots, respectively. Likewise, biochar application to soil irrigated with canal or saline water showed significant beneficial effects on soil pH, EC, nutrient metabolism and availability, bulk density, infiltration rate and microbial biomass carbon. Our results indicated that biochar amendment especially at the optimum rate of 4 t ha-1 effectively promoted crop performance by ameliorating soil physical, chemical, and biological properties. In the absence of any chemical amendment for alleviating salinity stress, the results of the present study established that the biochar holds promising potential as a soil amendment in ameliorating soil functions and promoting plant productivity under saline water irrigated conditions.


Subject(s)
Oryza , Soil , Charcoal , India , Saline Waters , Triticum
17.
Rom J Ophthalmol ; 65(1): 85-88, 2021.
Article in English | MEDLINE | ID: mdl-33817441

ABSTRACT

As the first and only presenting feature of acute myeloid leukemia (AML), unilateral proptosis in children is uncommon. We report the cases of two girls who had no systemic clinical manifestations of AML. Orbital imaging showed space-occupying infiltrating lesions without surrounding bone erosion. Incisional biopsy and immunohistochemistry were diagnostic for myeloid sarcoma. Systemic workup and bone marrow examination showed features of AML. Systemic chemotherapy was administered to both children, who responded well to the treatment. Myeloid sarcoma should be kept in the differentials of the children presenting with isolated proptosis. Immunohistochemistry may provide an accurate diagnosis and early treatment may lead to a prompt recovery with a good prognosis.


Subject(s)
Exophthalmos/etiology , Orbital Neoplasms/complications , Sarcoma, Myeloid/complications , Acute Disease , Biopsy , Child , Diagnosis, Differential , Exophthalmos/diagnosis , Female , Humans , Orbital Neoplasms/diagnosis , Sarcoma, Myeloid/diagnosis , Tomography, X-Ray Computed
18.
Zootaxa ; 4915(3): zootaxa.4915.3.5, 2021 Jan 22.
Article in English | MEDLINE | ID: mdl-33756563

ABSTRACT

Two new species of genus Hydromanicus Brauer 1865 are described and illustrated: Hydromanicus religiosus sp. nov. and Hydromanicus sikkimensis sp. nov. (both from Sikkim). Potamyia phaidra Malicky Chantaramongkol 1997 (from Meghalaya) and Cheumatopsyche chrysothemis Malicky Chantaramongkol 1997 and Hydromanicus inferior Chantaramongkol Malicky 1995 (both from West Bengal) are also reported for the first time from India. Further, the species Potamyia trenhona Oláh Barnard 2006 (in Oláh et al. 2006) is considered a synonym of P. phaidra based on the similarity in wing venation, male genitalic appendages, and phallic structure.


Subject(s)
Holometabola , Animals , India , Insecta , Male
19.
Plant Physiol ; 185(1): 49-66, 2021 02 25.
Article in English | MEDLINE | ID: mdl-33631799

ABSTRACT

Deciphering gene regulatory networks (GRNs) is both a promise and challenge of systems biology. The promise lies in identifying key transcription factors (TFs) that enable an organism to react to changes in its environment. The challenge lies in validating GRNs that involve hundreds of TFs with hundreds of thousands of interactions with their genome-wide targets experimentally determined by high-throughput sequencing. To address this challenge, we developed ConnecTF, a species-independent, web-based platform that integrates genome-wide studies of TF-target binding, TF-target regulation, and other TF-centric omic datasets and uses these to build and refine validated or inferred GRNs. We demonstrate the functionality of ConnecTF by showing how integration within and across TF-target datasets uncovers biological insights. Case study 1 uses integration of TF-target gene regulation and binding datasets to uncover TF mode-of-action and identify potential TF partners for 14 TFs in abscisic acid signaling. Case study 2 demonstrates how genome-wide TF-target data and automated functions in ConnecTF are used in precision/recall analysis and pruning of an inferred GRN for nitrogen signaling. Case study 3 uses ConnecTF to chart a network path from NLP7, a master TF in nitrogen signaling, to direct secondary TF2s and to its indirect targets in a Network Walking approach. The public version of ConnecTF (https://ConnecTF.org) contains 3,738,278 TF-target interactions for 423 TFs in Arabidopsis, 839,210 TF-target interactions for 139 TFs in maize (Zea mays), and 293,094 TF-target interactions for 26 TFs in rice (Oryza sativa). The database and tools in ConnecTF will advance the exploration of GRNs in plant systems biology applications for model and crop species.


Subject(s)
Arabidopsis/genetics , Databases as Topic , Gene Expression Regulation, Plant , Gene Regulatory Networks , Oryza/genetics , Transcription Factors/genetics , Zea mays/genetics , Crops, Agricultural/genetics , Genes, Plant
20.
Front Cell Neurosci ; 15: 784833, 2021.
Article in English | MEDLINE | ID: mdl-34975412

ABSTRACT

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by degeneration of upper and lower motor neurons and neurons of the prefrontal cortex. The emergence of the C9ORF72 hexanucleotide repeat expansion mutation as the leading genetic cause of ALS and FTD has led to a progressive understanding of the multiple cellular pathways leading to neuronal degeneration. Disturbances in neuronal function represent a major subset of these mechanisms and because such functional perturbations precede degeneration, it is likely that impaired neuronal function in ALS/FTD plays an active role in pathogenesis. This is supported by the fact that ALS/FTD patients consistently present with neurophysiological impairments prior to any apparent degeneration. In this review we summarize how the discovery of the C9ORF72 repeat expansion mutation has contributed to the current understanding of neuronal dysfunction in ALS/FTD. Here, we discuss the impact of the repeat expansion on neuronal function in relation to intrinsic excitability, synaptic, network and ion channel properties, highlighting evidence of conserved and divergent pathophysiological impacts between cortical and motor neurons and the influence of non-neuronal cells. We further highlight the emerging association between these dysfunctional properties with molecular mechanisms of the C9ORF72 mutation that appear to include roles for both, haploinsufficiency of the C9ORF72 protein and aberrantly generated dipeptide repeat protein species. Finally, we suggest that relating key pathological observations in C9ORF72 repeat expansion ALS/FTD patients to the mechanistic impact of the C9ORF72 repeat expansion on neuronal function will lead to an improved understanding of how neurophysiological dysfunction impacts upon pathogenesis.

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