Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

OBJECTIVE: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands. STUDY DESIGN: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between clinical variables and diagnostic yield and the genetic and clinical characteristics of undiagnosed probands. RESULTS: The overall diagnostic yield was 44% (209/474) with causative variants involving 41 genes. While the diagnostic yield was high in the probands with congenital, bilateral, and severe HL, it was low in those with unilateral, noncongenital, or mild HL; cochlear nerve deficiency; preterm birth; neonatal intensive care unit admittance; certain ancestry; and developmental delay. Follow-up studies on 49 probands with initially inconclusive CGPT results changed the diagnostic status to likely positive or negative outcomes in 39 of them (80%). Reflex to exome sequencing on 128 undiagnosed probands by CGPT revealed diagnostic findings in 8 individuals, 5 of whom had developmental delays. The remaining 255 probands were undiagnosed, with 173 (173/255) having only a single variant in the gene(s) associated with autosomal recessive HL and 28% (48/173) having a matched phenotype. CONCLUSION: CGPT efficiently identifies the genetic etiologies of HL in children. CGPT-undiagnosed probands may benefit from follow-up studies or expanded testing.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.

Molecular and cellular remodeling of HepG2 cells upon treatment with antitubercular drugs.

Drug-induced liver injury (DILI) is an adverse outcome of the currently used tuberculosis treatment regimen, which results in patient noncompliance, poor treatment outcomes, and the emergence of drug-resistant tuberculosis. DILI is primarily caused by the toxicity of the drugs and their metabolites, which affect liver cells, biliary epithelial cells, and liver vasculature. However, the precise mechanism behind the cellular damage attributable to first-line antitubercular drugs (ATDs), as well as the effect of toxicity on the cell survival strategies, is yet to be elucidated. In the current study, HepG2 cells upon treatment with a high concentration of ATDs showed increased perforation within the cell, cuboidal shape, and membrane blebbing as compared with control/untreated cells. It was observed that ATD-induced toxicity in HepG2 cells leads to altered mitochondrial membrane permeability, which was depicted by the decreased fluorescence intensity of the MitoRed tracker dye at higher drug concentrations. In addition, high doses of ATDs caused cell damage through an increase in reactive oxygen species production in HepG2 cells and a simultaneous reduction in glutathione levels. Further, high dose of isoniazid (50-200 mM), pyrazinamide (50-200 mM), and rifampicin (20-100 µM) causes cell apoptosis and affects cell survival during toxic conditions by decreasing the expression of potent autophagy markers Atg5, Atg7, and LC3B. Thus, ATD-mediated toxicity contributes to the reduced ability of hepatocytes to tolerate cellular damage caused by altered mitochondrial membrane permeability, increased apoptosis, and decreased autophagy. These findings further emphasize the need to develop adjuvant therapies that can mitigate ATD-induced toxicity for the effective treatment of tuberculosis.

Linear morphea with overlying lichen sclerosus and calcinosis cutis associated with juvenile dermatomyositis.

Juvenile dermatomyositis (JDM) is associated with many distinguishing features including cutaneous calcinosis, vasculitis, and ulcerated lesions. In this case, we describe an unusual presentation in a 12-year-old girl who had muscle weakness along with linear morphea over the right upper and lower extremities with overlying lichen sclerosus and calcinosis cutis. Of interest, these initial cutaneous manifestations occurred years before onset of myositis.

Pseudodesulfovibrio thermohalotolerans sp. nov., a novel obligately anaerobic, halotolerant, thermotolerant, and sulfate-reducing bacterium isolated from a western offshore hydrocarbon reservoir in India.

OBJECTIVE: Characterization and documentation of strain MCM B-1480T, a novel sulfate-reducing bacterium isolated from produced water of India's western offshore hydrocarbon reservoir. METHOD: Strain MCM B-1480T was unequivocally identified using a polyphasic approach routinely followed in bacterial systematics. The morphological and biochemical characterization of strain MCM B-1480T was carried out using standard microbiological techniques. RESULTS: MCM B-1480T was a Gram-stain-negative, motile, non-spore-forming, curved-rod-shaped bacterium. MCM B-1480T could grow at temperatures between 20 and 60 °C (optimum 37 °C), pH 6-8 (optimum 7), and required 1-6% NaCl (optimum 3%) for growth. Strain MCM B-1480T was reducing sulfate to produce hydrogen sulfide during growth. This strain used lactate and pyruvate as prominent electron donors, whereas sulfate, sulfite, thiosulfate, and nitrate served as electron acceptors. MCM B-1480T shared maximum 16S rRNA gene sequence homology of 98.65% with the members of the genus Pseudodesulfovibrio. The G + C content of the 3.87 Mb MCM B-1480T genome was 60.39%. Digital DDH (27.7%) and average nucleotide identity (ANI 84%) with the closest phylogenetic affiliate (less than 70% and 95%, respectively) reaffirmed its distinctiveness. The major cellular fatty acids components, namely iso-C15:0, anteiso-C15:0, C16:0, and anteiso-C17:0, differentiated strain MCM B-1480T from other species of Pseudodesulfovibrio. Genome annotation revealed the presence of genes encoding dissimilatory sulfate reduction and nitrate reduction in strain MCM B-1480T. CONCLUSION: The polyphasic studies, including SSU rRNA gene sequencing, average nucleotide identity, Digital DNA-DNA hybridization, cell wall fatty acids analysis, etc., identified strain MCM B-1480T as a novel taxon and Pseudodesulfovibrio thermohalotolerans sp. nov. was proposed (= JCM 39269T = MCC 4711T).

Challenges and Limitation Analysis of an IoT-Dependent System for Deployment in Smart Healthcare Using Communication Standards Features.

The use of IoT technology is rapidly increasing in healthcare development and smart healthcare system for fitness programs, monitoring, data analysis, etc. To improve the efficiency of monitoring, various studies have been conducted in this field to achieve improved precision. The architecture proposed herein is based on IoT integrated with a cloud system in which power absorption and accuracy are major concerns. We discuss and analyze development in this domain to improve the performance of IoT systems related to health care. Standards of communication for IoT data transmission and reception can help to understand the exact power absorption in different devices to achieve improved performance for healthcare development. We also systematically analyze the use of IoT in healthcare systems using cloud features, as well as the performance and limitations of IoT in this field. Furthermore, we discuss the design of an IoT system for efficient monitoring of various healthcare issues in elderly people and limitations of an existing system in terms of resources, power absorption and security when implemented in different devices as per requirements. Blood pressure and heartbeat monitoring in pregnant women are examples of high-intensity applications of NB-IoT (narrowband IoT), technology that supports widespread communication with a very low data cost and minimum processing complexity and battery lifespan. This article also focuses on analysis of the performance of narrowband IoT in terms of delay and throughput using single- and multinode approaches. We performed analysis using the message queuing telemetry transport protocol (MQTTP), which was found to be efficient compared to the limited application protocol (LAP) in sending information from sensors.

In vitro and in vivo evaluation of dual Clofazimine and Verapamil loaded PLGA nanoparticles.

Combination therapy may counter the risk caused by efflux pumps mediated resistance developed by mycobacteria with a concomitant increase of the bactericidal effect of anti-TB drugs. In the present study, combination of two drugs in a nanoformulation was prepared. Clofazimine targets type 2 NADH dehydrogenase of the electron transport chain, and Verapamil inhibits various mycobacterial efflux pumps. The nanotechnology approach was adopted to overcome limitations associated with administration of free form of drugs by using poly (D, L-lactic-co-glycolic acid) as a polymer. Nanoparticles were prepared by oil/water single emulsion solvent evaporation procedure and characterized by various techniques. The results thus highlighted that developed nanoparticles were spherical with nano range size (200-450 nm). Fourier transform infrared spectroscopy revealed successful encapsulation of drugs in developed nanoformulations. Drugs in combination showed higher encapsulation efficiency and percentage drug loading capacity as compared to individual drug nanoformulations. Also, reduced toxicity of nanoformulation was observed in hemolysis assay as compared to free drugs. Ex-vivo analysis demonstrated efficient uptake of rhodamine encapsulated nanoparticles by THP-1 cells, while in-vivo results revealed sustained drug release of nanoformulation as compared to free drugs in combination. Therefore, we were able to achieve development of a single nanoformulation encapsulating Clofazimine and Verapamil in combination. Based on these findings, future studies can be designed to explore the potential of co-encapsulated Clofazimine and Verapamil nanoparticles in management of tuberculosis. Supplementary Information: The online version contains supplementary material available at 10.1007/s12291-022-01062-8.

Umbilicated papulonodules on the elbows with purpuric papules on the fingers.

This case describes an unusual cutaneous presentation. Our patient had purpuric papules on the fingers and umbilicated nodules over the elbows, and interestingly, both lesion types showed similar histopathological features of necrobiotic granuloma with neutrophils.

BBNSF: Blockchain-Based Novel Secure Framework Using RP2-RSA and ASR-ANN Technique for IoT Enabled Healthcare Systems.

The wearable healthcare equipment is primarily designed to alert patients of any specific health conditions or to act as a useful tool for treatment or follow-up. With the growth of technologies and connectivity, the security of these devices has become a growing concern. The lack of security awareness amongst novice users and the risk of several intermediary attacks for accessing health information severely endangers the use of IoT-enabled healthcare systems. In this paper, a blockchain-based secure data storage system is proposed along with a user authentication and health status prediction system. Firstly, this work utilizes reversed public-private keys combined Rivest-Shamir-Adleman (RP2-RSA) algorithm for providing security. Secondly, feature selection is completed by employing the correlation factor-induced salp swarm optimization algorithm (CF-SSOA). Finally, health status classification is performed using advanced weight initialization adapted SignReLU activation function-based artificial neural network (ASR-ANN) which classifies the status as normal and abnormal. Meanwhile, the abnormal measures are stored in the corresponding patient blockchain. Here, blockchain technology is used to store medical data securely for further analysis. The proposed model has achieved an accuracy of 95.893% and is validated by comparing it with other baseline techniques. On the security front, the proposed RP2-RSA attains a 96.123% security level.

Assessment of menopausal symptoms with changing hormone milieus in different menopausal transitional stages.

The present cross-sectional study is an attempt to evaluate menopausal symptoms with changing hormone milieus among women of different menopausal transitional stages. Out of all the symptoms, sexual dysfunction was the most commonly occurring symptom. Results of the correspondence analysis exhibited a significant association of symptoms like 'feeling unhappy', 'feeling dizzy', 'parts of body feeling numb' and 'muscle & joint pain' with late postmenopausal stage. Therefore, the assessment of menopausal health of women in rural settings of developing countries like India is of considerable significance for promoting their post reproductive health as well as for enhancing their quality of life.

Double-Sided, Omnidirectional γ-AlOOH Hierarchical Nanostructures: Imparting Enhanced Antireflective Properties with Self-Cleaning Capacity for Optical Devices.

Herein, we have successfully developed an integrated strategy to develop antireflective coatings with self-cleaning capabilities based on periodic double-sided photonic γ-AlOOH nanostructures to transmit maximum incident light photons. Interfacial reflections are instinctive and one of the fundamental phenomena occurring at interfaces owing to refractive index mismatch. The eradication of such undesirable light reflection is of significant consideration in many optical devices. A systematic approach was carried out to eradicate surface reflection and enhance optical transmission by tailored γ-AlOOH nanostructures. The γ-AlOOH photonic nanostructures with subwavelength features exhibited a gradient index, which almost eliminated the refractive index mismatch at the interface. Optical transmittance of 97% was achieved in the range of 350-800 nm at normal incidence compared to uncoated glass (89%). A multilayer model approach was adopted to extract the effective refractive index of the coating, which showed a graded index from the top to the bottom surface. Further, to fully comprehend the optics of these nanostructures, the omnidirectional (20-70°) antireflective property has been explored using variable-angle specular reflectance spectroscopy. The hierarchical γ-AlOOH nanostructures exhibited only ∼1.3% reflectance at the lower incident angle in the visible spectra and an average reflectance of ∼7.6% up to an incident angle of 70°. Moreover, the hierarchical nanostructures manifested contact angle (CA) >172° and roll-off angle (RA) <1° with excellent self-cleaning performance. Furthermore, the abrasion resistance of the coating is discussed in detail, which displayed a good resistance against sand erosion. Significantly, the photovoltaic performance of the coated modules exhibited a relative enhancement of ∼17% in efficiency, which is attributed to the efficient coupling of light rays. Thus, the integration of the antireflection (AR) property with self-cleaning ability can provide a cost-effective energy solution for optoelectronic devices, display devices, and thin-film optics.

Agroinfiltration Mediated Scalable Transient Gene Expression in Genome Edited Crop Plants.

Agrobacterium-mediated transformation is one of the most commonly used genetic transformation method that involves transfer of foreign genes into target plants. Agroinfiltration, an Agrobacterium-based transient approach and the breakthrough discovery of CRISPR/Cas9 holds trending stature to perform targeted and efficient genome editing (GE). The predominant feature of agroinfiltration is the abolishment of Transfer-DNA (T-DNA) integration event to ensure fewer biosafety and regulatory issues besides showcasing the capability to perform transcription and translation efficiently, hence providing a large picture through pilot-scale experiment via transient approach. The direct delivery of recombinant agrobacteria through this approach carrying CRISPR/Cas cassette to knockout the expression of the target gene in the intercellular tissue spaces by physical or vacuum infiltration can simplify the targeted site modification. This review aims to provide information on Agrobacterium-mediated transformation and implementation of agroinfiltration with GE to widen the horizon of targeted genome editing before a stable genome editing approach. This will ease the screening of numerous functions of genes in different plant species with wider applicability in future.

Effect of selected physical and chemical modifications on physicochemical, pasting, and morphological properties of underutilized starch from rice bean (Vigna umbellata).

Starch was extracted from the rice bean which is largely underutilized and modified by physical (i.e. heat moisture treatment and retrogradation) and chemical (i.e. esterification and acid alcohol modification) methods. Both, physical and chemical modifications significantly (p < 0.05) affected the physicochemical, pasting, particle size and morphological properties of rice bean starch. Both amylose content and swelling power reduced after physical and chemical modifications. Among modified starches, retrograded starch showed higher solubility (8.56%) at 90 °C. Retrogradation also resulted in higher values of water (251%) and oil absorption (106%) capacities in comparison to other modified starches. Physical modifications greatly influenced the pasting properties in comparison to chemical modifications. The particle size distribution followed the order: native starch (659.8 nm) > heat moisture treated (434.3 nm) > retrograded (355.4 nm) > esterified (218 nm) > acid alcohol treated starch (234.5 nm). The study revealed that the particle size of rice bean starch was reduced by both physical and chemical modifications. FE-Scanning electron microscopy was used to study the morphological characteristics of starches and it was observed that retrogradation had a pronounced effect on the starch granules morphology.

Synthesis and characterization of nano starch-based composite films from kidney bean (Phaseolus vulgaris).

This study was aimed to synthesize and evaluate the nano starch-based composite films by the addition of nano starch in film formulation at 0.5, 1, 2, 5 and 10% level of total starch. The acid hydrolysis technique was used to reduce the size of starch granules of kidney bean starch. The physicochemical properties of both native and nano starch were determined. Nano starch showed a higher value for swelling power, solubility, water and oil absorption capacity when compared with native starch. The particle size of kidney bean nano starch was 257.7 nm at 100% intensity. The size of starch granule affects various properties of films. The thickness, solubility and burst strength of the composite films were increased significantly (p ≤ 0.05) with an increase in the concentration of nano starch in film formulation. While the moisture content and water vapour transmission rate (WVTR) were decreased significantly (p ≤ 0.05) with an increase in the concentration of nano starch in film formulation. The results suggested that kidney bean starch could be used for the development of packaging films. The utilization of nano starch in film formulations had an additional advantage in improving the film properties.

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.

PURPOSE: Neurodevelopmental disorders represent a frequent indication for clinical exome sequencing. Fifty percent of cases, however, remain undiagnosed even upon exome reanalysis. Here we show RNA sequencing (RNA-seq) on human B-lymphoblastoid cell lines (LCL) is highly suitable for neurodevelopmental Mendelian gene testing and demonstrate the utility of this approach in suspected cases of Cornelia de Lange syndrome (CdLS). METHODS: Genotype-Tissue Expression project transcriptome data for LCL, blood, and brain were assessed for neurodevelopmental Mendelian gene expression. Detection of abnormal splicing and pathogenic variants in these genes was performed with a novel RNA-seq diagnostic pipeline and using a validation CdLS-LCL cohort (n = 10) and test cohort of patients who carry a clinical diagnosis of CdLS but negative genetic testing (n = 5). RESULTS: LCLs share isoform diversity of brain tissue for a large subset of neurodevelopmental genes and express 1.8-fold more of these genes compared with blood (LCL, n = 1706; whole blood, n = 917). This enables testing of more than 1000 genetic syndromes. The RNA-seq pipeline had 90% sensitivity for detecting pathogenic events and revealed novel diagnoses such as abnormal splice products in NIPBL and pathogenic coding variants in BRD4 and ANKRD11. CONCLUSION: The LCL transcriptome enables robust frontline and/or reflexive diagnostic testing for neurodevelopmental disorders.

Stepwise treatment of primary focal hyperhidrosis with aluminum chloride hexahydrate lotion (20%) and oral glycopyrrolate: a retrospective study from a tertiary care center.

Primary focal hyperhidrosis is a common reason for dermatology outpatient visit and has significant impact on patient's social and professional activities. The study describes the clinical profile of those patients and response with aluminum chloride hexahydrate lotion (ACH 20%) and oral glycopyrrolate (OGP). A retrospective study was carried out at a tertiary care center between the year 2016 and 2018. Details of history, baseline assessment, treatment response recorded in specially designed proformas were analyzed. Initially, the patients received topical ACH daily at night. Non-responders were advised OGP 1 mg BD and increased to 2 mg BD if they did not respond. Response was measured according to patient global assessment and objective evaluation of sweating. Among total 69 patients 57 had onset <10 years of age. There was male preponderance and most common trigger was situations causing anxiety (n = 15). Around 15.3% patients got adequate response with ACH lotion. The cumulative response increased to 45.8% by addition of OGP 1 mg BD and to 55.9% by increasing the dose to 2 mg BD. Addition of OGP to topical ACH increases the treatment efficacy in patients with primary focal hyperhidrosis. Increasing the glycopyrrolate dose augments the response further. However, the current medical treatment options are able to give moderate response.

Sarcoma as Second Cancer in a Childhood Cancer Survivor: Case Report, Large Population Analysis and Literature Review.

The majority of pediatric patients are cured of their primary cancer with current advanced developments in pediatric cancer therapy. However, survivors often experience long-term complications from therapies for primary cancer. The delayed mortality rate has been decreasing with the effort to reduce the therapeutic exposure of patients with pediatric cancers. Our study investigates the incidence of sarcoma as second cancer in pediatric cancer survivors. We present a 9-year-old male who survived embryonal hepatoblastoma diagnosed at 22 months of age. At 4.5 years of age, he presented with a non-metastatic primitive neuroectodermal tumor (PNET) of the left submandibular area. He has no evidence of recurrence of either cancer for 51 months after finishing all chemotherapy and radiotherapy. We used the Surveillance, Epidemiology, and End Results (SEER) database to identify the current rate of second sarcomas in pediatric cancer survivors. Our literature review and large population analysis emphasize the impact of sarcoma as a second malignancy and provide help to physicians caring for pediatric cancer survivors.

Quantification of phenolic acids and antioxidant potential of wheat rusks as influenced by partial replacement with barley flour.

This study was investigated to evaluate the phenolic acid composition, antioxidant potential and acceptance of rusk prepared by the progressive replacement of wheat flour with barley flour. The wheat-barley blends rusks were also evaluated for their pasting and sensorial properties. The pasting characteristics of wheat flour was influenced by barley flour incorporation with a increase in peak and final viscosity values with increasing amount of barley flour. The results revealed that incorporation of barley flour into wheat flour improved the nutritional and bioactive compounds profile. The free radical scavenging activities towards DPPH and ABTS+ was found to be higher for wheat-barley blends rusk in comparison with wheat rusk. As evident from total phenolic content, total flavonoids contents and antioxidant activities, barley flour was found to be rich in bioactive compounds in comparison with wheat flour. Supplementation of rusks with 30% barley flour were suggested to be nutritionally superior with an acceptable sensory score and is a successful approach to enrich rusks with nutrients.

Antioxidant characterization and in vitro DNA damage protection potential of some Indian fenugreek (Trigonella foenum-graecum) cultivars: effect of solvents.

Indian fenugreek cultivars were characterized for their antioxidant properties and bioactive compounds were quantified using high performance liquid chromatography (HPLC). The extraction efficiencies were compared for two extraction solvents [aqueous ethanol (50%) and methanol]. The bioactive properties studied were total phenolic content (TPC), total flavonoids content (TFC), condensed tannin content (CTC), 2,2'-Azino-bis (3-ethylbenzothiazoline-6-sulfonate) (ABTS+), 1, 1-diphenyl-2-picrylhydrazyl (DPPH) radical scavenging activity, total antioxidant capacity (TAC), and reducing power activity (RPA). Aqueous ethanol extracts showed higher TPC, TFC, ABTS+, TAC and RPA as compared to methanol. However, methanolic extracts showed higher CTC and DPPH activity. Higher TPC [45.3 and 45.4 mg gallic acid equivalents (GAE)/g dry weight basis (dwb)], DPPH (93.0 and 93.2%), ABTS+ (98.3 and 98.5%), RPA [40.9 and 44.9 mg quercetin equivalents (QE)/g dwb], were observed for cv.RMT-143 and cv.RMT-365, respectively. TFC (20.5 mg catechin equivalents (CE)/g dwb) and CTC (9.3 mg CE/g dwb) were found the highest for cv. Kasoori methi. Quantification of phenolic compounds using HPLC revealed higher amount of gallic acid (in Kasoori methi), ascorbic and p-coumaric acid (HM-57), benzoic and cinnamic acid (RMT-143) and catechol (only in RMT-365). Significant (p < 0.05) protection against in vitro plasmid deoxyribonucleic acid (DNA) (pBR322) oxidative damage was observed for fenugreek extracts.

Kinetic, rheological and thermal studies of flaxseed (Linum usitatissiumum L.) oil and its utilization.

In present study kinetic, thermal and rheological characteristics of oil isolated from flaxseed were studied and because of high content of α-linolenic acid (essential omega-3 fatty acid), flaxseed oil was incorporated in muffins by replacing fat/shortening at different levels (10%, 20%, 30% and 40%). To evaluate rheological behaviour, the experimental data of flow behaviour for flaxseed oil was fitted to Power law model, consistency index (K) and flow behaviour index (n) and Arrhenius parameters (activation energy and frequency factor) were evaluated. The n value of the oil treated at 10, 15, 20, 25 and 30 °C were found between 0.8 to 0.9, which suggested the non-Newtonian fluid behaviour of flaxseed oil. Thermal properties of flaxseed oil was evaluated using DSC (differential scanning calorimetry). The flaxseed oil possessed three endothermic and one shoulder peak. Gas chromatography revealed the fatty acids composition qualitatively and quantitatively and flaxseed oil is dominated by unsaturated fatty acids. Saturated oil was replaced with flaxseed unsaturated fat and results showed that substituting oil with flaxseed fat at level upto 20% produced muffins possessed the better texture, colour, aroma, mouth feel and overall quality score. Practical application: Modern diet lifestyle demands of healthy natural foods represent a challenge for food manufacturers to lead towards the healthy new trends. Fats imparts lubrication, texture, flavour and acceptability therefore used as major ingredients in bakery goods. Fats contains saturated fatty and dietary intake of saturated fatty acids in excess amount leads to many health disorders. Therefore, substitution of saturated fatty acid with PUFAs (omega-3 and omega-6) for the protection against diseases and metabolic disorders may be a solution for healthy and nutritious product development.