Damage detection in a fixed-fixed beam using natural frequency changes

This paper presents a damage detection technique which uses change in Frequency Response Function (FRF) and Modal Strain Energy (MSE) for damage detection in beam and truss like structures. It’s a robust approach for Structural Health Monitoring (SHM) using natural frequency for structural damage assessment. This technique couples FRF with Iterative Modal Strain Energy (IMSE) method to accurately localize and quantify the damage with only few frequencies, overcoming the limitation of mode shape based damage detection methods which requires mode shapes at full coordinates but damage is either over/underestimated. In the current approach, a damage detection algorithm is developed and validated by conducting numerical studies for a Fixed-Fixed beam, both noise-free and noise-effected cases are simulated. The numerical studies reveal that proposed algorithm is capable of identifying, localizing and quantifying the damage accurately at reduce computational cost

Association Between Diabetic Control And Anti-Diabetic Medication Adherence Using 8-Point Morisky Medication Adherence Scale In Local Population Of Khyber Pakhtunkhwa

Abstract: Background: Drug adherence to medications in diabetes is very necessary for strict glycemic control. Many factors in diabetics are associated with low adherence to drugs resulting in complications. Methods: This research was conducted as an observational study with cross-sectional study design. It was scheduled between July 2022 to December 2022 in medical outpatient department of Combined Military Hospital, Peshawar Results: 115 individuals were inducted over a period of 6 months from medical OPD ex Combined Military Hospital Peshawar. Five patients failed to follow-up with research team resulting in a total of 110 participants included in results. Average age across the study sample was 50.25 ± 11.97 years with 58 (52.73%) males and 52 (47.27%) females. Most participant in our study sample were educated up to matriculation with BMI <25kg/m2. Average duration of diabetes across the sample was 6.1 ± 3.69 years. In treatment options, 53 (48.18%) individuals were only managed with oral therapy, 16 (14.55%) on insulin only while 41 (37.27%) were prescribed with both oral hypoglycemic drugs and insulin. Most common comorbid across study population was hypertension, seen in 59 (53.94%) diabetic patients, followed by cataract in 41 (37.47%) and IHD in 33 (30%) patients.  In all 110 individuals, only 29 (26.36%) individuals had good glycemic control i.e., HbA1c <7% with average glycosylated hemoglobin percentage measuring 8.29% ± 1.59%. As per MMAS-8 score, 25 (22.73%) patients reported good adherence, 31 (28.18%) patients reported fair adherence while rest 54 (49.09%) were found to have bad adherence. Average MMAS-8 score was 5.17. Conclusion: There is a correlation between medication adherence as measured by MMAS-8 score with control of diabetes as measured by HbA1c score in the range of 1.824% across the range of MMAS-8 score from 0-8. Sleep quality, BMI and multiple comorbid conditions were also linked with raised HbA1c. Key words: Drug adherence, Morisky Medication Adherence Scale, Diabetes, Non-diabetes, diabetic medication

Domestic Consumer Awareness of Energy Consumption Practices in Pakistan

Electricity waste is a bottleneck in availing clean, green, uninterrupted, and sustainable electricity supply. The synthesis of the studied literature portrays that irresponsible behavior indulges consumers to take irresponsible action, which leads to electricity waste and crisis. Therefore, to get the know-how of irresponsible behavior, this study aims to investigate the role of awareness concerning electricity consumption, wastage, gadget efficiency, and conservation. A questionnaire-focused survey was carried out to collect data and performed descriptive analysis to critically evaluate the data. The results explicate that consumers possess a low level of wasteful consumption awareness and “lack-of-information” is a big issue in waste management. Thus, the study concludes that unawareness is the key determinant that creates and strengthens a sense of irresponsibility in consumer behavior. The academician and practitioners need dire attention to take precautionary measures for developing prominent awareness campaigns and strategic policy guidelines to distort irresponsible human nature by including fearful promotional contents in marketing campaigns.Keywords: Electricity Awareness, Electricity Conservation, Electricity Efficiency, Electricity Waste, Irresponsible Behavior, Electricity CrisisJEL Classifications: Q4, Q40, D1DOI: https://doi.org/10.32479/ijeep.11441</p

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

<p>Abstract</p> <p>Background</p> <p>Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 (<it>CDMP1</it>) gene cause Grebe-type chondrodysplasia.</p> <p>Methods</p> <p>Genotyping of six members of a Pakistani family with Grebe-type chondrodysplasia, including two affected and four unaffected individuals, was carried out by using polymorphic microsatellite markers, which are closely linked to <it>CDMP1 </it>locus on chromosome 20q11.22. To screen for a mutation in <it>CDMP1 </it>gene, all of its coding exons and splice junction sites were PCR amplified from genomic DNA of affected and unaffected individuals of the family and sequenced directly in an ABI Prism 310 automated DNA sequencer.</p> <p>Results</p> <p>Genotyping results showed linkage of the family to <it>CDMP1 </it>locus. Sequence analysis of the <it>CDMP1 </it>gene identified a novel four bases insertion mutation (1114insGAGT) in exon 2 of the gene causing frameshift and premature termination of the polypeptide.</p> <p>Conclusion</p> <p>We describe a 4 bp novel insertion mutation in <it>CDMP1 </it>gene in a Pakistani family with Grebe-type chondrodysplasia. Our findings extend the body of evidence that supports the importance of <it>CDMP1 </it>in the development of limbs.</p

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

Abstract Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating in the family in an autosomal dominant manner. Our findings conclude that reduced penetrance and variable expressivity are the two remarkable and unusual features of SHFM

Association of RETN C-420G single nucleotide polymorphism with type 2 diabetes mellitus in Pakistani Punjabi Rajput population

Objectives: To determine the association of human resistin gene RETN C-420G single nucleotide polymorphism with type 2 diabetes mellitus in a specific ethnic population

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

BACKGROUND: Jalili syndrome (JS) is a rare cone-rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and CBS Domain Divalent Metal Cation Transport Mediator 4 (CNNM4) magnesium transporter protein have been reported as the leading cause of this anomaly. METHODS: In the present study, a clinical and genetic investigation was performed in a consanguineous family of Pakistani origin, showing characteristic features of JS. Sanger sequencing was successfully used to identify the causative variant in CNNM4. Molecular dynamics (MD) simulations were performed to study the effect of amino acid change over CNNM4 protein. RESULTS: Sequence analysis of CNNM4 revealed a novel missense variant (c.1220G>T, p.Arg407Leu) in exon-1 encoding cystathionine-β-synthase (CBS) domain. To comprehend the mutational consequences in the structure, the mutant p.Arg407Leu was modeled together with a previously reported variant (c.1484C>T, p.Thr495Ile) in the same domain. Additionally, docking analysis deciphered the binding mode of the adenosine triphosphate (ATP) cofactor. Furthermore, 60ns MD simulations were carried out on wild type (p.Arg407/p.Thr495) and mutants (p.Arg407Leu/p.Thr495Ile) to understand the structural and energetic changes in protein structure and its dynamic behavior. An evident conformational shift of ATP in the binding site was observed in simulated mutants disrupting the native ATP-binding mode. CONCLUSION: The novel identified variant in CNNM4 is the first report from the Pakistani population. Overall, the study is valuable and may give a novel insight into metal transport in visual function and biomineralization.status: publishe

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (<i>ARMC3</i>)

Stuttering is a common neurodevelopment speech disorder that negatively affects the socio-psychological dimensions of people with disability. It displays many attributes of a complex genetic trait, and a few genetic loci have been identified through linkage studies. Stuttering is highly variable regarding its phenotypes and molecular etiology. However, all stutters have some common features, including blocks in speech, prolongation, and repetition of sounds, syllables, and words. The involuntary actions associated with stuttering often involve increased eye blinking, tremors of the lips or jaws, head jerks, clenched fists, perspiration, and cardiovascular changes. In the present study, we recruited a consanguineous Pakistani family showing an autosomal recessive mode of inheritance. The exome sequencing identified a homozygous splice site variant in ARMC3 (Armadillo Repeat Containing 3) in a consanguineous Pashtun family of Pakistani origin as the underlying genetic cause of non-syndromic stuttering. The homozygous splice site variant (NM_173081.5:c.916 + 1G > A) segregated with the stuttering phenotype in this family. The splice change leading to the skipping of exon-8 is a loss of function (LoF) variant, which is predicted to undergo NMD (Nonsense mediated decay). Here, we report ARMC3 as a novel candidate gene causing the stuttering phenotype. ARMC3 may lead to neurodevelopmental disorders, including stuttering in humans

Mortality Analysis of COVID-19 Confirmed Cases in Pakistan

Introduction: COVID-19, a novel disease, appeared in December 2019 in China and rapidly spread across the world. Till the second week of April 2020, high incidence (2.9/100,000) and cases fatality rates (1.7%) were observed in Pakistan. This study was conducted to determine the temporal and spatial distribution of the first 100 deaths attributed to COVID-19 in Pakistan and their associated demographic factors. Method: A record review of the first 100 deaths reported among RT-PCR confirmed COVID-19 cases was conducted. Demographic, epidemiological, and risk factors information was obtained associated comorbidities and clinical signs and symptoms were recorded and frequencies were determined. Results: A total of 100 mortalities with an overall case fatality rate of 1.67% (CFR) were analyzed. The median age of patients was 64.5 years (IQR: 54-70) with 75% (n=75) males. Among all deaths reported, 71 (71%) cases had one or more documented comorbidities at the time of diagnosis.  The most frequently reported co-morbidities were: hypertension (67%), followed by Diabetes Mellitus (45%) and Ischemic Heart Diseases (27%). The most frequent presenting symptoms were shortness of breath (87%) and fever (79%). The median duration of illness was eight days (IQR: 4-11 days), the median delay reaching hospital to seek health care was three days (IQR: 0-6 days) while the median duration of hospital stay was also three days (IQR: 1-7 days). Among all, 62% had no history of international travel. The most affected age group was 60-69 years while no death reported in the age group below 20 years

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot&ndash;Marie&ndash;Tooth and Spastic Ataxia of Charlevoix&ndash;Saguenay Type Diseases

Charcot&ndash;Marie&ndash;Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix&ndash;Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960), CMT4F (OMIM: 614895) is caused by PRX (OMIM: 605725), CMTX1 (OMIM: 302800) is caused by mutations in GJB1 (OMIM: 304040), and ARSACS (OMIM: 270550) is caused by mutations in SACS (OMIM: 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, and ICP-RD11, with 16 affected individuals, for clinical and molecular diagnoses. One patient from each family was analyzed for whole exome sequencing and Sanger sequencing was done for the rest of the family members. Affected individuals of families BD-06 and MR-01 show complete CMT phenotypes and family ICP-RD11 shows ARSACS type. Family DG-01 shows complete phenotypes for both CMT and ARSACS types. The affected individuals have walking difficulties, ataxia, distal limb weakness, axonal sensorimotor neuropathies, delayed motor development, pes cavus, and speech articulations with minor variations. The WES analysis in an indexed patient of family DG-01 identified two novel variants: c.83G&gt;T (p.Gly28Val) in MPV17 and c.4934G&gt;C (p.Arg1645Pro) in SACS. In family ICP-RD11, a recurrent mutation that causes ARSACS, c.262C&gt;T (p.Arg88Ter) in SACS, was identified. Another novel variant, c.231C&gt;A (p.Arg77Ter) in PRX, which causes CMT4F, was identified in family BD-06. In family MR-01, a hemizygous missense variant c.61G&gt;C (p.Gly21Arg) in GJB1 was identified in the indexed patient. To the best of our knowledge, there are very few reports on MPV17, SACS, PRX, and GJB1 causing CMT and ARSACS phenotypes in the Pakistani population. Our study cohort suggests that whole exome sequencing can be a useful tool in diagnosing complex multigenic and phenotypically overlapping genetic disorders such as Charcot&ndash;Marie&ndash;Tooth disease (CMT) and spastic ataxia of Charlevoix&ndash;Saguenay type