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1.
Front Plant Sci ; 15: 1381387, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38978520

RESUMO

Plant architecture is a crucial determinant of crop yield. The number of primary (PB) and secondary branches (SB) is particularly significant in shaping the architecture of Indian mustard. In this study, we analyzed a panel of 86 backcross introgression lines (BCILs) derived from the first stable allohexaploid Brassicas with 170 Sinapis alba genome-specific SSR markers to identify associated markers with higher PB and SB through association mapping. The structure analysis revealed three subpopulations, i.e., P1, P2, and P3, in the association panel containing a total of 11, 33, and 42 BCILs, respectively. We identified five novel SSR markers linked to higher PB and SB. Subsequently, we explored the 20 kb up- and downstream regions of these SSR markers to predict candidate genes for improved branching and annotated them through BLASTN. As a result, we predicted 47 complete genes within the 40 kb regions of all trait-linked markers, among which 35 were identified as candidate genes for higher PB and SB numbers in BCILs. These candidate genes were orthologous to ANT, RAMOSUS, RAX, MAX, MP, SEU, REV, etc., branching genes. The remaining 12 genes were annotated for additional roles using BLASTP with protein databases. This study identified five novel S. alba genome-specific SSR markers associated with increased PB and SB, as well as 35 candidate genes contributing to plant architecture through improved branching numbers. To the best of our knowledge, this is the first report of introgressive genes for higher branching numbers in B. juncea from S. alba.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38994791

RESUMO

BACKGROUND AND OBJECTIVE: Primary hemifacial spasm (HFS) is caused by neurovascular conflict (NVC) at the root entry zone of the facial nerve. Whether reduction of posterior cranial fossa (PCF) cerebrospinal fluid (CSF) volume is a risk factor for HFS is not clear. The study aims at the radiologic assessment of PCF CSF volume and its clinical correlation. METHODS: A cross-sectional, hospital-based, case-control study was conducted, in which 50 cases of primary HFS and 50 age- and sex-matched controls were recruited. PCF CSF volume was quantified in 3-T brain magnetic resonance imaging. RESULTS: The mean age at presentation of cases was 50.7 ± 10.7 years (42-69 years) and controls was 52.4 ± 8.7 years (45-68 years). The mean duration of symptoms was 3.5 ± 1.3 years (1.5-8 years). About 52% of patients had grade 2 (mild) severity of HFS. The mean PCF CSF volume of patients was 13,725.1 ± 909.5 mm3 and controls was 14,458.5 ± 973.5 mm3 (P < 0.001). The mean PCF CSF volume of females with HFS was 13,714.8 ± 852.5 mm3 and female controls was 14,521.8 ± 973.5 mm3 (P = 0.006). PCF CSF volume was significantly associated with the presence of HFS (P = 0.007), the severity of HFS (P < 0.001), and the presence of NVC (P = 0.02). CONCLUSION: PCF CSF volume was lesser in HFS patients and was associated with the presence of HFS, the severity of HFS, and the presence of NVC. Females with HFS had smaller PCF CSF volume. Small PCF CSF volume is a risk factor for HFS, particularly in females with HFS.

3.
Sci Rep ; 14(1): 13666, 2024 06 13.
Artigo em Inglês | MEDLINE | ID: mdl-38871793

RESUMO

An experimental setup was developed for simulating the field conditions to determine the force and power required for cutting cumin crops in dynamic conditions. The effect of cutter bar speeds, forward speeds, and blade type on cutting force and power requirement for cutting cumin were also studied. Experiments were carried out at three levels: cutter bar speeds, forward speeds, and blade type. The results showed that all the factors significantly affected cutting force. The cutting force followed a decreasing trend with the increase in cutter bar speed. Whereas it followed an increasing trend with the increase in forward speed. The maximum cutting force for all three blades was observed at a cutter bar speed of 2.00 strokes.s-1 and forward speed of 0.46 m.s-1. The idle power and actual power required for cutting the cumin crop were also determined based on the cutting force. The results obtained were validated by the power drawn from the power source while operating the cutter bar blades. The R2 values for Blade-B1, Blade-B2, and Blade-B3 were 0.90, 0.82, and 0.88, respectively. The cutting force was primarily affected by the cutter bar speed, resulting in PCR values of 74.20%, 82.32%, and 81.75% for Blade-B1, Blade-B2, and Blade-B3, respectively, followed by the forward speed, which also had an impact on PCR values of 16.60%, 15.27%, and 18.25% for Blade-B1, Blade-B2, and Blade-B3, respectively. The cutting force for Blade-B1, Blade-B2, and Blade-B3 varied from 15.96 to 58.97 N, 21.08 to 76.64 N, and 30.22 to 85.31, respectively, for the selected range of cutter bar speed and forward speed. Blade-B1 had 18 and 30% less power consumption than Blade-B2 and Blade-B3, respectively.


Assuntos
Produtos Agrícolas , Produtos Agrícolas/crescimento & desenvolvimento , Nigella sativa , Produção Agrícola/instrumentação , Produção Agrícola/métodos
4.
Abdom Radiol (NY) ; 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38900324

RESUMO

PURPOSE: To non-invasively quantify pancreatic fibrosis and grade severity of chronic pancreatitis (CP) on dual-energy CT (DECT) and multiparametric MRI (mpMRI). METHODS: We included 72 patients (mean age:30years; 59 men) with suspected or confirmed CP from December 2019 to December 2021 graded as equivocal(n = 20), mild(n = 18), and moderate-marked(n = 34) using composite imaging and endoscopic ultrasound criteria. Study patients underwent multiphasic DECT and mpMRI of the abdomen. Normalized iodine concentration(NIC) and fat fraction(FF) on 6-minute delayed DECT, and T1 relaxation time(T1Rt), extracellular volume fraction(ECVf), intravoxel incoherent motion-based perfusion fraction(PF), and magnetization transfer ratio(MTR) on mpMRI of pancreas were compared. 20 renal donors(for DECT) and 20 patients with renal mass(for mpMRI) served as controls. RESULTS: NIC of pancreas in controls and progressive grades of CP were 0.24 ± 0.05, 0.80 ± 0.18, 1.06 ± 0.23, 1.40 ± 0.36, FF were 9.28 ± 5.89, 14.19 ± 5.29, 17.31 ± 5.99, 29.32 ± 12.22, T1Rt were 590.11 ± 61.13, 801.93 ± 211.01, 1006.79 ± 352.18, 1388.01 ± 312.23ms, ECVf were 0.07 ± 0.03, 0.30 ± 0.12, 0.41 ± 0.12, 0.53 ± 0.13, PF were 0.38 ± 0.04, 0.28 ± 0.07, 0.25 ± 0.09, 0.21 ± 0.05 and MTR were 0.12 ± 0.03, 0.15 ± 0.06, 0.21 ± 0.07, 0.26 ± 0.06, respectively. There were significant differences for all quantitative parameters between controls and mild CP; for NIC, PF, and ECVf between controls and progressive CP grades (p < 0.05). Area under curve for NIC, FF, T1Rt, ECVf, PF, and MTR in differentiating controls and mild CP were 1.00, 0.86, 0.95, 1.00, 0.90 and 0.84 respectively and for NIC, FF, ECVf and PF in differentiating controls and equivocal CP were 1.00, 0.76, 0.95 and 0.92 respectively. CONCLUSION: DECT and mpMRI were useful in quantifying pancreatic fibrosis and grading the severity of CP. NIC was the most accurate marker.

5.
JACC Adv ; 3(2): 100765, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38939376

RESUMO

Background: Cystatin C, neutrophil gelatinase-associated lipocalin (NGAL), and kidney injury molecule (KIM)-1 are renal biomarkers increasingly appreciated for their role in the risk stratification and prognostication of heart failure (HF) patients. However, very few have been adopted clinically, owing to the lack of consistency. Objectives: The authors aimed to study the association between cystatin C, NGAL, and KIM-1 and outcomes, mortality, hospitalizations, and worsening renal function (WRF) in patients with acute and chronic HF. Methods: We included peer-reviewed English-language articles from PubMed and EMBASE published up to December 2021. We analyzed the above associations using random-effects meta-analysis. Publication bias was assessed using funnel plots. Results: Among 2,631 articles, 100 articles, including 45,428 patients, met the inclusion criteria. Top-tertile of serum cystatin C, when compared to the bottom-tertile, carried a higher pooled hazard ratio (pHR) for mortality (pHR: 1.59, 95% CI: 1.42-1.77) and for the composite outcome of mortality and HF hospitalizations (pHR: 1.49, 95% CI: 1.23-1.75). Top-tertile of serum NGAL had a higher hazard for mortality (pHR: 2.91, 95% CI: 1.49-5.67) and composite outcome (HR: 4.11, 95% CI: 2.69-6.30). Serum and urine NGAL were significantly associated with WRF, with pHRs of 2.40 (95% CI: 1.48-3.90) and 2.01 (95% CI: 1.21-3.35). Urine KIM-1 was significantly associated with WRF (pHR: 1.60, 95% CI: 1.24-2.07) but not with other outcomes. High heterogeneity was noted between studies without an obvious explanation based on meta-regression. Conclusions: Serum cystatin C and serum NGAL are independent predictors of adverse outcomes in HF. Serum and urine NGAL are important predictors of WRF in HF.

6.
PLoS One ; 19(6): e0304206, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38905173

RESUMO

Unremitting decline in crop productivity and nutrient recovery are resulted due to dearth of need based fertilizer recommendation over blanket application apart from nitrogen pollution in several means. An advance nutrient management tactic, GreenSeeker (GS) has developed and used in many field crops following the principle of four "R" (right source, right amount at right time, and place) nutrients stewardship technologies. But no studies have been conducted for evaluation of GS in mustard for improving productivity, profitability and nutrient use efficiency (NUE) while minimizing environmental risks. With this objective, a study was planned to conduct an experiment in rabi season of 2021-22 and 2022-23 to assess optical sensor based nitrogen management in mustard over blanket recommendation. The experiment was comprised of ten N treatments including control in randomized block design in triplicates. Research findings indicated that application of GreenSeeker based N significantly improved all growth traits and yield parameters in Brassica juncea L. Per cent enhancement in seed yield, net monetary returns and benefit-cost ratio was higher as 19.3 and 64.5%, 125.1 & 36.2% and 58.8 & 24.4%, respectively under GS based multi split N application over RDF and control. Further, real time N management with GS acquired higher crop production efficiency (CPE) (19.9 kg/day) with lesser cost/kg production (Rs 15.7/kg). Split application of N using GS increased oil yield by 79.9 and 26% over control and recommended dose of fertilizer (RDF) with maximum oil content (42.3%), and increases soil organic carbon (SOC) content by 16.1% from its initial value. Moreover, GS crop sensor could be the probable solution to minimize the crop nitrogen requirement by 15-20% with a yield enhancement of about 18.7% over RDF.


Assuntos
Fertilizantes , Mostardeira , Nitrogênio , Mostardeira/crescimento & desenvolvimento , Mostardeira/efeitos dos fármacos , Nitrogênio/metabolismo , Fertilizantes/análise , Produtos Agrícolas/crescimento & desenvolvimento , Solo/química , Agricultura/métodos , Agricultura/economia
7.
Indian J Radiol Imaging ; 34(3): 496-510, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38912231

RESUMO

Skeletal radiographs along with dental examination are frequently used for age estimation in medicolegal cases where documentary evidence pertaining to age is not available. Wrist and hand radiographs are the most common skeletal radiograph considered for age estimation. Other parts imaged are elbow, shoulder, knee, and hip according to suspected age categories. Age estimation by wrist radiographs is usually done by the Tanner-Whitehouse method where the maturity level of each bone is categorized into stages and a final total score is calculated that is then transformed into the bone age. Careful assessment and interpretation at multiple joints are needed to minimize the error and categorize into age-group. In this article, we aimed to summarize a suitable radiographic examination and interpretation for bone age estimation in living children, adolescents, young adults, and adults for medicolegal purposes.

9.
Brain Connect ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38874981

RESUMO

Background: The basal ganglia-thalamocortical (BGTC) and cerebello-thalamocortical (CTC) networks are implicated in tremor genesis; however, exact contributions across disorders have not been studied. Objective: Evaluate the structural connectivity of BGTC and CTC in tremor-dominant Parkinson's disease (TDPD) and essential tremor plus (ETP) with the aid of probabilistic tractography and graph theory analysis. Methods: Structural connectomes of the BGTC and CTC were generated by probabilistic tractography for TDPD (n = 25), ETP (ET with rest tremor, n = 25), and healthy control (HC, n = 22). The Brain Connectivity Toolbox was used for computing standard topological graph measures of segregation, integration, and centrality. Tremor severity was ascertained using the Fahn-Tolosa-Marin tremor rating scale (FTMRS). Results: There was no difference in total FTMRS scores. Compared with HC, TDPD had a lower global efficiency and characteristic path length. Abnormality in segregation, integration, and centrality of bilateral putamen, globus pallidus externa (GPe), and GP interna (GPi), with reduction of centrality of right caudate and cerebellar lobule 8, was observed. ETP showed reduction in segregation and integration of right GPe and GPi, ventrolateral posterior nucleus, and centrality of right putamen, compared with HC. Differences between TDPD and ETP were a reduction of strength of the right putamen, and lower clustering coefficient, local efficiency, and strength of the left GPi in TDPD. Conclusions: Contrary to expectations, TDPD and ETP may not be significantly different with regard to tremor pathogenesis, with definite overlaps. There may be fundamental similarities in network disruption across different tremor disorders with the same tremor activation patterns, along with disease-specific changes.

10.
Neuroscientist ; : 10738584241257927, 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38842035

RESUMO

The current study investigates the intricate connection between neurology and islands shedding light on the historical, epidemiological, and genetic aspects. Based on an elaborate literature review, we identified neurological conditions having a significant clustering in an island(s), confined to a particular island(s), named after an island, and described first in an island. The genetic factors played a crucial role, uncovering disorders like Cayman ataxia, Machado Joseph disease, SGCE-mediated dystonia-myoclonus syndrome, X-linked dystonia parkinsonism, hereditary transthyretinrelated amyloidosis, Charcot Marie Tooth 4F, and progressive myoclonic epilepsy syndromes, that exhibited remarkable clustering in diverse islands. Local customs also left enduring imprints. Practices such as cannibalism in Papua New Guinea led to Kuru, while cycad seed consumption in Guam triggered Lytico-Bodig disease. Toxin-mediated neurologic disorders exhibited intricate island connections, exemplified by Minamata disease in Kyushu islands and atypical parkinsonism in French Caribbean islands. Additionally, the Cuban epidemic of amblyopia and neuropathy was associated with severe nutritional deficiencies. This study pioneers a comprehensive review narrating the genetic, environmental, and cultural factors highlighting the spectrum of neurological disorders in island settings. It enriches the medical literature with a unique understanding of the diverse influences shaping neurological health in island environments.

11.
J Biomater Sci Polym Ed ; : 1-23, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38787751

RESUMO

Nanoparticles capped with natural products can be a cost-effective alternative to treat drug-resistant nosocomial infections. Therefore, silibinin-loaded chitosan-capped silver nanoparticles (S-C@AgNPs) were synthesized to evaluate their antimicrobial and anti-inflammatory potential. The S-C@AgNPs plasmon peak was found at 430 nm and had a particle size distribution of about 130 nm with an average hydrodynamic diameter of 101.37 nm. The Scanning Electron Microscopy images showed the presence of sphere-shaped homogeneous nanoparticles. The Fourier Transform Infrared Spectroscopy analysis confirmed the loading of silibinin and chitosan on the AgNPs surface. The minimum inhibitory concentration of the S-C@AgNPs was reported between 3.12 µg/ml to 12.5 µg/ml and a minimum bactericidal concentration between 6.25 µg/ml to 25 µg/ml against drug-resistant nosocomial pathogens. Moreover, concentration-dependent significant inhibition of the biofilm formation was reported against P. aeruginosa (70.21%) and K. pneumoniae (71.02%) at 30 µg/ml, and the highest destruction of preformed biofilm was observed at 100 µg/ml against P. aeruginosa (89.74%) and K. pneumoniae (77.65%) as compared to individual bacterial control. Additionally, the fluorescence live/dead assay for bacterial biofilm confirmed that 100 µg/ml effectively inhibits the biofilm formed by these pathogens. S-C@AgNPs also showed anti-inflammatory activity, which is evident by the significant decrease in the proinflammatory cytokines and chemokines level in THP1 cells treated with LPS. This study concluded that S-C@AgNPs have potent antimicrobial, antibiofilm, and anti-inflammatory properties and could be a potential option for treating drug resistant nosocomial infections.

12.
Neurol Sci ; 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38789836

RESUMO

BACKGROUND: The neurovascular conflict (NVC) causing hemifacial spasm (HFS) can also cause compression of ventrolateral medulla (VLM) which contains the central sympathetic neurons. VLM compression has been associated with hypertension. Whether the VLM compression in HFS patients is associated with hypertension is not clear. OBJECTIVE: To determine the frequency, severity of VLM compression and its association with hypertension in HFS patients. METHODS: A cross-sectional, hospital-based, case control study and recruited 120 study subjects (50 cases of primary HFS, 30 hypertensive and 40 normotensive age-, sex- matched controls). The VLM compression was assessed in magnetic resonance imaging Constructive Interference in Steady State (CISS) 3D sequences. RESULTS: Hypertension was present in 30 cases (60%). Six patients with HFS (20%) were detected to be hypertensive after the onset of HFS. VLM compression was seen in 24 cases (48%), 7 hypertensive controls (23.3%) and 5 normotensive controls (10%) (p = 0.03). Twenty-four patients with hypertension had VLM compression and remaining 6 patients with hypertension did not have VLM compression (80% vs 20%; p = 0.02). Normotensive patients did not have VLM compression. Vertebral artery was the most common artery causing VLM compression (22 patients; 7 hypertensive and 5 normotensive controls). CONCLUSION: VLM compression is more common in HFS patients as compared to hypertensive and normotensive controls. It is more common in hypertensive HFS patients in comparison with normotensive HFS patients. Microvascular decompression is an option in hypertensive HFS patients with VLM compression if the hypertension is medically refractory.

13.
Parkinsonism Relat Disord ; 124: 106988, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38705765

RESUMO

BACKGROUND: Infection-related movement disorders (IRMD) present a complex diagnostic challenge due to the broad phenotypic spectrum, the variety of possible infectious aetiologies, and the complicated underlying mechanisms. Yet, a comprehensive framework for classifying IRMD is lacking. METHODS: An international consensus panel under the directives of the Movement Disorders Society Infection-Related Movement Disorders Study Group developed a comprehensive definition and a consensus classification system. Case scenarios were used for validation. RESULTS: A definition for IRMD and a two-axis-based classification system consisting of six descriptors are proposed, intended as tools for researchers and clinicians. Collected information on clinical characteristics, investigational findings, the infectious organism and presumed pathogenesis facilitate the evaluation of diagnostic certainty. CONCLUSION: The proposed framework will serve for optimised diagnostic algorithms, systematic aggregation of informative datasets across studies, and ultimately improved care and outcome of patients with IRMDs.


Assuntos
Consenso , Transtornos dos Movimentos , Humanos , Transtornos dos Movimentos/diagnóstico , Feminino , Masculino , Infecções/diagnóstico , Infecções/complicações , Pessoa de Meia-Idade
14.
Stem Cells Dev ; 33(11-12): 306-320, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38753688

RESUMO

Lower population of dopaminergic (DA) neurons is known to increase susceptibility to Parkinson's disease (PD), and our earlier study showed a lower yield of DA neurons in Leucine-Rich Repeat Kinase Isoleucine 1371 Valine (LRRK2-I1371V) mutation-carrying PD patient-derived induced Pluripotent Stem Cells (iPSCs). Although the role of Sonic Hedgehog (SHH) in DA neurogenesis of floor plate cells (FPCs) is known, the effect of LRRK2 mutations on SHH responsiveness of FPCs impacting DA neuronal yield has not been studied. We investigated SHH responsiveness of FPCs derived from LRRK2-I1371V PD patient iPSCs with regard to the expression of SHH receptors Patched1 (Ptch1) and Smoothened (Smo), in conjunction with nuclear Gli1 (glioma-associated oncogene 1) expression, intracellular Ca2+ rise, and cytosolic cyclic adenosine monophosphate (cAMP) levels upon SHH induction. In addition, we examined the mechanistic link with LRRK2-I1371V gain-of-function by assessing membrane fluidity and Rab8A and Rab10 phosphorylation in SH-SY5Y cells and healthy control (HC) FPCs overexpressing LRRK2-I1371V as well as FPCs. Although total expression of Ptch1 and Smo was comparable, receptor expression on cell surface was significantly lower in LRRK2-I1371V FPCs than in HC FPCs, with distinctly lower nuclear expression of the downstream transcription factor Gli1. HC-FPCs transfected with LRRK2-I1371V exhibited a similarly reduced cell surface expression of Ptch1 and Smo. Intracellular Ca2+ response was significantly lower with corresponding elevated cAMP levels in LRRK2-I1371V FPCs compared with HC FPCs upon SHH stimulation. The LRRK2-I1371V mutant FPCs and LRRK2-I1371V-transfected SH-SY5Y and HC FPCs too exhibited higher autophosphorylation of phospho LRRK2 (pLRRK2) serine1292 and serine935, as well as substrate phosphorylation of Rab8A and Rab10. Concurrent increase in membrane fluidity, accompanied by a decrease in membrane cholesterol, and lower expression of lipid raft marker caveolin 1 were also observed in them. These findings suggest that impaired SHH responsiveness of LRRK2-I1371V PD FPCs indeed leads to lower yield of DA neurons during ontogeny. Reduced cell surface expression of SHH receptors is influenced by alteration in membrane fluidity owing to the increased substrate phosphorylation of Rab8A and reduced membrane protein trafficking due to pRab10, both results of the LRRK2-I1371V mutation.


Assuntos
Neurônios Dopaminérgicos , Proteínas Hedgehog , Células-Tronco Pluripotentes Induzidas , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Doença de Parkinson , Receptor Patched-1 , Proteína GLI1 em Dedos de Zinco , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/metabolismo , Proteínas Hedgehog/metabolismo , Proteínas Hedgehog/genética , Células-Tronco Pluripotentes Induzidas/metabolismo , Células-Tronco Pluripotentes Induzidas/citologia , Neurônios Dopaminérgicos/metabolismo , Receptor Patched-1/genética , Receptor Patched-1/metabolismo , Doença de Parkinson/genética , Doença de Parkinson/metabolismo , Doença de Parkinson/patologia , Proteína GLI1 em Dedos de Zinco/genética , Proteína GLI1 em Dedos de Zinco/metabolismo , Receptor Smoothened/genética , Receptor Smoothened/metabolismo , Proteínas rab de Ligação ao GTP/genética , Proteínas rab de Ligação ao GTP/metabolismo , AMP Cíclico/metabolismo , Caveolina 1/genética , Caveolina 1/metabolismo , Mutação/genética , Cálcio/metabolismo , Diferenciação Celular/genética , Transdução de Sinais/genética
15.
Parkinsonism Relat Disord ; 124: 107012, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38762926

RESUMO

BACKGROUND: Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited. We report seven Indian cases with dystonia phenotype related to TUBB4A mutation. CASES: Among these seven patients, age at onset ranged from 5 to 48 years. Five patients had cranio-cervical onset of dystonia. One patient had prominent parkinsonism with dystonia. Patients responded well to botulinum toxin injected for laryngeal, cervical and jaw dystonia. The patient with parkinsonism responded well to levodopa, albeit with development of dyskinesias. Apart from the common p.Arg2Gly variant in three patients with DYT-TUBB4A, other variants included p.Arg262Pro, p.Arg39Cys and p.Asp245Asn. CONCLUSIONS: We report the first collection of cases with TUBB4A mutation from India. We expand the phenotype to include levodopa-responsive parkinsonism. Indian patients, consistent with global literature, harbor prominent adductor dysphonia, cervical and jaw dystonia, which responds well to botulinum treatment.


Assuntos
Fenótipo , Tubulina (Proteína) , Humanos , Índia , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Tubulina (Proteína)/genética , Adulto Jovem , Adolescente , Criança , Distúrbios Distônicos/genética , Distúrbios Distônicos/tratamento farmacológico , Pré-Escolar , Genótipo , Mutação , Distonia/genética , Distonia/tratamento farmacológico
16.
Mov Disord ; 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769639

RESUMO

BACKGROUND: Abnormalities in ataxin-2 associated with spinocerebellar ataxia type 2 (SCA2) may lead to widespread disruptions in the proteome. This study was performed to identify dysregulated proteome in SCA2 and to explore its clinical-radiological correlations. METHODS: Cerebrospinal fluid (CSF) samples from 21 genetically confirmed SCA2 were subjected to shotgun proteome analysis using mass spectrometry (MS) and tandem mass tag (TMT)-based multiplexing. Proteins with at least 1.5-fold change in abundance were identified. Their relative abundance was measured using parallel reaction monitoring (PRM) and correlated against disease-related factors. RESULTS: Eleven proteins were significantly upregulated in SCA2. They belonged to the family of cell adhesion molecules and granins. Their fold changes showed significant clinical, genetic, and radiological correlations. CONCLUSIONS: Significant dysregulation of CSF proteome is seen in SCA2. The dysregulated protein may have potential use in clinical evaluation of patients with SCA2. © 2024 International Parkinson and Movement Disorder Society.

17.
Artigo em Inglês | MEDLINE | ID: mdl-38767315

RESUMO

Fish pigmentation study can reveal understandings in dermatological research based on functional genomics. Cultured ornamental fish becomes dull coloured and antityrosinase activity through sesame seed may enhance skin colour, which has not been studied. Botia dario is an indigenous fish, having ornamental and aesthetic value and can be studied as a model for fish pigmentation genetics. In this study, fish specimens were fed with 15% marigold petal meal along with 5, 10 and 15% w/w sesame seed in diet. Pigmentation genes, that is, tyr, tyrp1a, asip1, gnaq, kitlga, mc1r, mitf, pax7a, rab38, slc7a11, sox9a, sox10, csf1r, bcdo2 and gsta2 in skin and immunogens, that is, il20, nramp, tlr9 and trail in kidney were studied. Gene expression in tissues revealed enhanced pigmentation and immunity as well as the role of tyr, tyrp1a and asip1 in pigmentation. Immunogenes and blood parameters confirmed the best pigmentation diet. Colorimetric analysis also showed the enhancement of pigmentation. Insights from sesame seed and marigold-induced antityrosinase effects will be applied in aquaculture to develop natural, dietary formulations that will enhance pigmentation in ornamental fish, leading to improved skin colour and market value.

18.
Curr Rheumatol Rev ; 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38808723

RESUMO

This comprehensive exploration delves into the multifaceted attributes of quercetin, a flavonoid with extensive health-promoting potential. The review navigates through its fundamental properties, encompassing its chemical structure, classification as a flavonoid, and its natural prevalence in various sources. Addressing solubility, stability, and bioavailability challenges, the investigation delves into innovative isolation techniques, including solvent extraction, solid-phase extraction, natural deep eutectic solvents, supercritical fluid extraction, microwave-assisted extraction, column chromatography, and high-performance thin-layer chromatography. Transitioning into pharmacological implications, the study unveils quercetin's roles in anti-inflammatory pathways, antioxidant effects, and immune modulation, reflecting its versatile significance in health management. The review highlights its impact on wound healing processes and its potential to mitigate arthritis, elucidating its holistic contributions. Culminating in an exploration of recent studies, the analysis underscores quercetin's remarkable anti-inflammatory and anti-arthritis activities, reflecting its substantial potential across various ailments. The review concludes by projecting future trajectories, emphasizing prospects for an advanced understanding of quercetin's mechanisms, sustainable extraction techniques, clinical integration, and exploration of synergistic combinations. Collectively, this review investigation underscores quercetin's dynamic role at the intersection of natural compounds and medicinal applications, offering profound implications for well- being and health enhancement.

19.
J Contam Hydrol ; 264: 104369, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38810412

RESUMO

A conceptual equilibrium-based mathematical model for colloid-associated contaminant transport has been developed to study the impact of the subsurface environment on contaminant transport through a three-dimensional, saturated, and homogeneous groundwater flow system with uniform flow. The kinetic model's critical limitation is dealing with the more significant number of parameters utilized upon application to larger scales in three-dimensional regions when a series of transport mechanisms are incorporated. Therefore, the present study is the first attempt to study the equilibrium approach in three-dimensional regions to avoid complexities in the model. The current study, however, shows that the mere existence of colloids does not indicate that contaminants will move more quickly; rather, it also depends on how the aqueous phase interacts with the static solid matrix, captured colloid particles, and mobile colloids as well as how colloids interact with stationary solid matrix phase. We noticed that the affinity of contaminants to immobile sorbents (stationary solid matrix and captured colloids) can reduce the transport even in the presence of colloids. Three-dimensional numerical experiments reveal that contaminants infiltrate more in the downward direction in the absence of colloids and can be distributed more in the longitudinal direction and less in the downward direction when colloids are present. The dual nature of colloids is espied here: first, colloids can remove pollutants from a specific area more quickly, and second, in a similar manner, colloids can pollute a specific region more quickly.


Assuntos
Coloides , Água Subterrânea , Modelos Teóricos , Movimentos da Água , Poluentes Químicos da Água , Coloides/química , Água Subterrânea/química , Adsorção , Poluentes Químicos da Água/química , Cinética , Modelos Químicos
20.
Ann Indian Acad Neurol ; 27(2): 178-182, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38751916

RESUMO

Objective: Homer1, a postsynaptic protein coded by the HOMER1 gene, presumably has a role in homeostatic plasticity that dampens neuronal responsiveness when the input activity is too high. HOMER1 polymorphism has been studied in major psychiatric disorders such as schizophrenia. The objective of this study is to investigate if polymorphisms of the HOMER1 gene are associated with psychosis in Parkinson's disease (PD-P). Methods: One hundred patients with Parkinson's disease (PD) and 100 healthy controls were enrolled consecutively in a PD-P biomarker study at the National Institute of Mental Health and Neurosciences, Bangalore, India. Of the 100 PD patients, 50 had psychosis (PD-P) and 50 did not have psychosis (PD-NP). Two single-nucleotide polymorphisms of HOMER1 (rs4704559 and rs4704560) were analyzed from the DNA isolated from peripheral blood. The allele and genotype frequencies in the PD-P and PD-NP groups were compared. Results: Analysis of HOMER1 rs4704560 revealed a significant difference in both genotype and allele levels between PD-P and PD-NP groups. There was an overrepresentation of T-allele (42% vs. 16%; P < 0.001) and TT genotype (24% vs. 6%; P < 0.001) in the PD-P group compared to PD-NP group. There was no significant difference between PD-P and PD-NP groups when various genotypes and allele frequencies related to HOMER1 rs4704559 were compared. Conclusion: PD-P is probably associated with overrepresentation of T-allele of HOMER1 rs4704560, and larger studies are warranted to confirm our results.

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