RESUMO
Momordica charantia L. (MC) is a widely consumed vegetable known for its nutritional benefits, as it is a rich source of carotenoids and phenolic compounds. Various cooking methods are use in domestic settings, including microwave cooking. Therefore, it is crucial to investigate the impact of microwave cooking on the bioactive composition of MC. MC fruits were subjected to microwave heat for 5-, 10-, and 15-min. High performance liquid chromatography was used to identify of carotenoids and phenolic compounds, and total bioactive composition and antioxidant assays were conducted using spectroscopic techniques. There were 17 carotenoids and chlorophylls identified in MC fruit, including lutein, violaxanthin, antheraxanthin, pheophytin a, and all-E-ß-carotene. The levels of these compounds significantly increased upon exposure to microwave heating. Similarly, 16 phenolic compounds were identified, and their amounts increased during the treatments, except for 3-hydroxyphloretin-6'-hexoside, quercetin-3-(6â³-acetyl)-glucoside, petunidin-3-(6â³-acetyl)-glucoside and petunidin-3-(6â³-acetyl)-glucoside. The sample subjected to microwave treatment for 15 min exhibited the highest concentration of total phenolic compounds (TPC) at 754.5 mg/100g. The total flavonoid content (TFC) reached 94.6 mg/100g after 10 min of treatment. Additionally, the maximum total anthocyanin content, reported as 54.8 mg/L, was observed in the sample exposed to microwave heating for 15 min.
RESUMO
This present research aims to clarify the intricate conjunction of enterprise social media (ESM) utilization and employee agility with a main focus on uncovering the underlying mechanisms that work through the mediating influence of work engagement and the moderating influence of regulatory focus. Drawing upon regularity focus theory, 353 Chinese samples of ESM users in organizational contexts are analyzed using SPSS 23.0. The empirical findings substantiate a robust and significant positive linkage between ESM usage and worker agility. Further reinforcing the model, the mediating role of work engagement is established as it channels the impact of ESM usage on worker agility. Turning to the moderating effects, the study unveils the differential impact of prevention focus and promotion focus, wherein individuals with a lower prevention focus exhibit a more pronounced positive linkage between ESM usage and worker agility. Similarly, individuals with a higher promotion focus demonstrate a heightened positive association between ESM usage and worker agility. By comprehensively inspecting the intricate dynamics of ESM usage, work engagement, and regulatory focus, this study enhances our theoretical understanding of how these factors synergistically shape employee agility, ultimately furnishing organizations with invaluable insights to foster and cultivate an agile workforce.
Assuntos
Mídias Sociais , Engajamento no Trabalho , Humanos , Adulto , Feminino , Masculino , Mídias Sociais/estatística & dados numéricos , Emprego/psicologia , China , Adulto Jovem , Pessoa de Meia-IdadeRESUMO
This paper proposes a numerically and experimentally validated printed wideband antenna with a planar geometry for Internet of Things (IoT) applications. This design tackles the challenges associated with deploying IoT sensors in remote areas or across extensive geographical regions. The proposed design exploits a coplanar-waveguide-fed modified microstrip line monopole for excitation of circularly polarized waves radiating in the broadside direction. The primary design is based on perturbations of the microstrip line protracted from a grounded coplanar waveguide. The capacitively coupled short rectangular stubs are periodically inserted alternately and excited asymmetrically on each side of the microstrip line parallel to the direction of the electric field vector. The sequential phase excitation of the periodic stubs generates a rectangular-cascaded electric field, which suppresses the stop band at the open end. As a result, the antenna radiates in the broadside direction. The impedance bandwidth of the antenna exceeds 8 GHz in the 28 GHz mm-wave band, i.e., it ranged from 25 to 33.5 GHz. Additionally, an axial ratio below 3 dB is achieved within the operating band from 26 to 33.5 GHz with the alterations of the surface current using straightforward topological adjustments of the physical parameters. The average in-band realized gain of the antenna is 10 dBic when measured in the broadside direction. These results indicate that the proposed design has the potential to improve the connectivity between IoT devices and the constantly varying orientation of satellites by mitigating the polarization mismatch.
RESUMO
Geometry scaling of microwave circuits is an essential but challenging task. In particular, the employment of a given passive structure in a different application area often requires re-adjustment of the operating frequencies/bands while maintaining top performance. Achieving this necessitates the utilization of numerical optimization methods. Nonetheless, if the intended frequencies are distant from the ones at the starting point, local search procedures tend to fail, whereas global search algorithms are computationally expensive. As recently demonstrated, a combination of large-scale concurrent geometry parameter scaling with intermittent local tuning allows for dependable re-design of high-frequency circuits at low CPU costs. Unfortunately, the procedure is only applicable to single-band structures due to synchronized modifications of all operating bands under scaling. This article discusses a novel procedure that leverages a similar overall concept, but allows for independent control of all center frequencies. To achieve this goal, an automated decision-making procedure is developed in which a set of orthogonal scaling directions are determined based on their effect on individual circuit bands, and using auxiliary optimization sub-problems. The scaling range is then automatically computed by solving an appropriately-defined least-square design relocation problem. The methodology introduced in the work is illustrated using two planar passive devices. In both cases, wide-range operating frequency re-design has been demonstrated and favorably compared to conventional gradient-based tuning. Furthermore, the presented procedure has been shown to be computationally efficient. It is also easy to implement and integrate with a variety of gradient-based optimization procedures of a descent type.
RESUMO
Introduction Shoulder dislocation is the most common injury encountered in orthopedic outpatient department. The choice of procedure depends on the expertise of surgeons. The objective of this study was to compare the Latarjet procedure with the modified Putti-Platt surgery for recurrent anterior shoulder dislocation in terms of functional outcomes. Materials and methods A quasi-experimental study evaluated 60 patients with recurrent anterior shoulder instability. Patients were assigned to either Latarjet or modified Putti-Platt surgery. Functional outcomes were assessed at six months using the Constant-Murley shoulder score. Results This study encompassed 60 patients (mean age: 23.93±5.88 years) undergoing shoulder procedures. Functional outcomes exhibited a majority of 55% excellent, 35% good, 6.7% fair, and 3.3% poor outcomes. No significant differences in functional outcomes were found between the procedures. Conclusion Both procedures may be viable options for recurrent shoulder instability. The choice may depend on patient factors and surgeon preference. Further research is needed to refine techniques and identify ideal candidates.
RESUMO
Introduction Meniscus tear is a commonly encountered sports-related injury requiring surgical intervention due to knee mobility dysfunction and discomfort. Previously, it has been thought that these are non-functional vestigial structures and they used to be excised commonly. Recent studies have shown that meniscal repair gives superior results when compared with partial meniscectomy. Methods This quasi-experimental study was conducted at the Orthopedics Department, Khyber Teaching Hospital, Peshawar, Pakistan. A total of 92 patients of both genders with meniscal injuries were included. Forty-six of them underwent meniscal repair (Group A), and 46 underwent partial meniscectomy (Group B). Functional outcome was noted after 12 weeks and recorded. Results The age range was from 18 to 50 years with a mean of 28.630±6.64 years in Group A and 29.630±8.12 years in Group B. Functional outcome was excellent in 44 (95.7%) patients who underwent meniscal repair as compared to 23 (50%) patients who underwent partial meniscectomy (P= 0.000). Conclusion It is concluded that meniscal repair should be pursued over partial meniscectomy when surgically treating meniscal tears.
RESUMO
Despite existing for millennia, tuberculosis (TB) remains a persistent global health challenge. A significant obstacle in controlling TB spread is the need for a rapid, portable, sensitive, and accurate diagnostic test. Currently, sputum culture stands as a benchmark test for TB diagnosis. Although highly reliable, it necessitates advanced laboratory facilities and involves considerable testing time. In this context, we present a rapid, portable, and cost-effective optical fiber sensor designed to measure lipoarabinomannan (LAM), a TB biomarker found in patients' urine samples. Our sensing approach is based on the applications of phase shift-cavity ringdown spectroscopy (PS-CRDS) to an optical fiber cavity created by two fiber Bragg gratings. A tapered fiber is spliced inside the optical cavity to serve as the sensing head. We functionalize the tapered fiber surface with anti-LAM antigen CS-35 through a unique chemistry, creating a strong affinity for LAM molecules. We measure the phase difference between the cavity transmission and the reference modulating signal at the cavity output. The measured phase is directly proportional to the injected LAM concentrations in aqueous solutions over the sensing head. Our demonstrated sensor provides a detection limit of 10 pg/mL and a sensitivity of 0.026°/pg/mL. This sensor holds promise for numerous applications in the healthcare sector, particularly in low-resource settings.
RESUMO
It was a descriptive cross-sectional study to determine the frequency and risk factors of tracheomalacia in patients undergoing thyroidectomy. One hundred and forty-nine patients underwent thyroidectomy at MTI-Khyber Teaching Hospital Peshawar between 1st January 2021 and 1st March 2022. The frequency of post-thyroidectomy tracheomalacia and possible associated factors were determined. The inclusion criteria were patients of either gender, between 18 to 70 years fulfilling criteria of clinically diagnosed cases of thyroid disorders who underwent subtotal, hemi, near or total thyroidectomy for their respective thyroid diseases. Post-thyroidectomy tracheomalacia was recorded in 18 patients (12.1%): Seventeen patients were aged less than 30 (p-value 0.038) and 14 (77.8%) patients had a duration of surgery > three hours (p-value <0.001). Young female patients with multinodular goitre who had a longer duration of surgery developed post-thyroidectomy tracheomalacia more frequently. Hence, the incidence of post-thyroidectomy tracheomalacia can be markedly reduced with proper preoperative assessment and postoperative measures. Key Words: Thyroid gland, Thyroid disorders, Tracheomalacia, Thyroidectomy.
Assuntos
Bócio , Traqueomalácia , Humanos , Feminino , Traqueomalácia/epidemiologia , Traqueomalácia/etiologia , Traqueomalácia/cirurgia , Tireoidectomia/efeitos adversos , Estudos Transversais , Bócio/epidemiologia , Bócio/cirurgia , Fatores de RiscoRESUMO
In the current studies two naproxen derivatives (NPD) were evaluated for analgesic and anti-inflammatory properties. The acetic acid and hot plate animal models were used to screen the compounds for analgesic potential. While the anti-inflammatory potential was evaluated through animal paw edema, induced by several inflammatory mediators (carrageenan, bradykinin, and prostaglandin E2), the xylene-induced ear edema was also used as an inflammatory model. Both NPDs showed significant (p < 0.001) antinociceptive effects in the acetic acid-induced writhing paradigm. In the case of the hot plate, the NPD 1 at the tested dose of 5 mg/kg enhanced the latency time after 60 min of injection, which remained significant (p < 0.001) up to the end of the experiment duration. The maximum percent inhibition of NPD 1 was 87.53. The naloxone injection significantly lowered the latency time of NPD 1 as compared to NPD 2. Regarding the anti-inflammatory effect, both of the tested NPDs demonstrated a significant reduction in paw edema against various inflammatory mediators, as mentioned above; however, the anti-inflammatory effect of NPD 1 was better. The maximal percent inhibition by NPD 1 and 2 was 43.24 (after 60 min) and 45.93 (after 90 min). A considerable effect also resulted from xylene-induced ere edema. Further, a molecular docking study was carried out to investigate the binding modes of the NPD. The docking analysis revealed that the NPD significantly interacted with the COX2 enzyme. Furthermore, molecular dynamics simulation was carried out for the docked complexes. The MD simulation analysis revealed the high stability of the two naproxen derivatives.
RESUMO
Traditional herbal medicines and health supplements have been empirically used to treat various disorders but most of them are not standardized and have not been experimentally validated for safety and efficacy. In the present study, various dosage forms of traditional herbal medicines prescribed for specific diseases were collected from local practitioners at different districts of Khyber Pakhtunkhwa, Pakistan. The collected samples were analyzed for heavy metal, trace elements, and minerals using atomic absorption spectroscopy. All the tested samples contained heavy metals, trace elements and minerals in different concentrations. All the samples were tested positive for the presence of toxic heavy metals such as arsenic (As), cadmium (Cd) and lead (Pb). The trace elements like cobalt (Co), iron (Fe), zinc (Zn) and chromium (Cr) were also detected in acceptable range. Similarly, the samples analyzed were rich in some of the essential minerals such as sodium (Na), magnesium (Mg) and calcium (Ca) which are necessary for the proper functioning of the body. The hazard quotient (HQ) values were measured for toxic heavy metals to determine their safe ranges for human body. The HQ values were above the permissible range for arsenic (As) in all detected samples while for cadmium (Cd) and lead (Pb), the values ware above in 50 % of the analyzed samples. The detection of toxic metals and their HQ values beyond the permissible limits in different dosage forms raised questions about their quality. This study suggests that evaluation of traditional herbal remedies for the metals contents and their standardization are strongly recommended for quality assurance and protection of public health.
RESUMO
BACKGROUND: Toxoplasma gondii is a zoonotic and foodborne intracellular parasite capable of inducing congenital infections, stillbirths and abortions in humans and animals, globally. The consumption of undercooked or raw mutton is "one of the vital risks" for acquiring toxoplasmosis: an asymptomatic condition in healthy persons, while life-threatening in immunodeficient individuals like "HIV/AIDS" patients. OBJECTIVES: The current study has multiple objectives: to optimize a newly ELISA kit for Sheep, to find out the seroprevalence of ovine toxoplasmosis of two ecological zones of the Punjab, Pakistan through LAT and newly Optimized Sheep ELISA kit, to do the comparison of efficacies of various tests (LAT with newly Optimized ELISA kit and newly Optimized ELISA kit with commercial ELISA kit) and to determine the different meteorological parameters as the risk factors for T. gondii infection in sheep. METHODS: A cross-sectional study was conducted on 400 sheep sera, 200 were collected from sheep raised on open grazing system by local farmers in the adjoining areas of Civil Veterinary Dispensaries (CVDs) of range-ecological zone i.e. tehsil Kot Chutta (Dera Ghazi khan). Similarly, the remaining 200 were collected from agro-ecological zone i.e. tehsil Sharaqpur (Sheikhupura), to evaluate the comparative efficacy of LAT with optimized ELISA kit and newly optimized ELISA kit with commercial ELISA kit. FINDINGS: The newly ELISA kit optimized against a commercial ELISA kit was found to have 100% sensitivity, 97.6% specificity with 98% Positive Predictive Value, 100% Negative Predictive Value, Cut off value = 0.505, 28.28 LR+, 0.0104 LR-, and 2719.23 DOR. Seroprevalence of toxoplasmosis was detected significantly (P < 0.01; χ2) higher in Sharaqpur (44.5% by LAT; 35.5% by ELISA) as compared to that in Kot Chutta (39.5% by LAT; 31% by ELISA). The highest seroprevalence was seen in the sheep of the 1-2 years age group (P < 0.01; χ2), whereas the lowest in the oldest animals (≥ 4 years). Investigation of meteorological data of both the regions reveals that the zone with higher seroprevalence has relatively higher rainfall, higher humidity, lower environmental temperatures, and higher altitude as the critical factors, potentially behind the significant difference seen in seroprevalence level. The partial correlation of both tests (newly optimized ELISA kit and LAT) was 0.991 at maximum temperature in Sharaqpur while it was 0.981 in Kot Chutta. INTERPRETATION: A novel significant correlation was found between the meteorological parameters (relative humidity, minimum, maximum, and average temperatures) divided into yearly units of both the ecological zones, and year-wise seroprevalence (birth years of age-wise groups) of the corresponding regions. We hypothesize that such environmental conditions increase the risk of toxoplasmosis in grazing sheep, owing to a more favorable environment for coccidian oocyst survival. The ELISA kit optimized in this study will be helpful for the detection of seroprevalence of ovine toxoplasmosis in other ecological zones of Pakistan as well as of any other country in the world. More studies are recommended involving regions from other ecological zones of Pakistan to further explore the seroprevalence of ovine toxoplasmosis and to ratify the novel correlation of meteorological parameters with seroprevalence.
Assuntos
Doenças dos Ovinos , Toxoplasma , Toxoplasmose Animal , Gravidez , Feminino , Humanos , Animais , Ovinos , Toxoplasmose Animal/diagnóstico , Toxoplasmose Animal/epidemiologia , Estudos Soroepidemiológicos , Estudos Transversais , Anticorpos Antiprotozoários , Fatores de Risco , Ensaio de Imunoadsorção Enzimática/veterinária , Doenças dos Ovinos/diagnóstico , Doenças dos Ovinos/epidemiologia , Doenças dos Ovinos/parasitologiaRESUMO
Development of modern microwave devices largely exploits full-wave electromagnetic (EM) simulations. Yet, simulation-driven design may be problematic due to the incurred CPU expenses. Addressing the high-cost issues stimulated the development of surrogate modeling methods. Among them, data-driven techniques seem to be the most widespread owing to their flexibility and accessibility. Nonetheless, applicability of approximation-based modeling for real-world microwave components is hindered by a high nonlinearity of the system characteristics, dimensionality issues, and broad ranges of operating parameters the model should cover to make it practically useful. Performance-driven modeling frameworks deliver a partial mitigation of these problems through appropriate spatial orientation of the metamodel domain, which only encapsulates high-quality designs and not the entire space. Unfortunately, the initial model setup cost is high, as defining the domain requires database designs that need to be a priori acquired. This paper introduces a novel approach, where the database designs are replaced by random observables, and dimensionality of the domain is reduced using spectral analysis thereof. The major contributions of the work include implementation of the explicit dimensionality reduction of the confined surrogate model domain and introducing this concept into a complete cost-efficient framework for modeling of microwave components. Comprehensive benchmarking demonstrates excellent performance of the introduced framework, both in terms of predictive power of the rendered surrogates, their scalability properties, as well as low computational overhead associated with the model setup.
RESUMO
Tuberculosis (TB) is a contagious disease that causes 1.5 million deaths per year globally. Early diagnosis of TB patients is critical to control its spread. However, standard TB diagnostic tests such as sputum culture take days to weeks to produce results. Here, we demonstrate a quick, portable, easy-to-use, and non-invasive optical sensor based on sputum samples for TB detection. The probe uses Raman spectroscopy to detect TB in a patient's sputum supernatant. We deploy a machine-learning algorithm, principal component analysis (PCA), on the acquired Raman data to enhance the detection sensitivity and specificity. On testing 112 potential TB patients, our results show that the developed probe's accuracy is 100% for true-positive and 93.4% for true-negative. Moreover, the probe correctly identifies patients on TB medication. We anticipate that our work will lead to a viable and rapid TB diagnostic platform.
Assuntos
Mycobacterium tuberculosis , Tuberculose , Humanos , Aprendizado de Máquina , Sensibilidade e Especificidade , Análise Espectral Raman , Escarro , Tuberculose/diagnósticoRESUMO
For decades, co-relating different data domains to attain the maximum potential of machines has driven research, especially in neural networks. Similarly, text and visual data (images and videos) are two distinct data domains with extensive research in the past. Recently, using natural language to process 2D or 3D images and videos with the immense power of neural nets has witnessed a promising future. Despite the diverse range of remarkable work in this field, notably in the past few years, rapid improvements have also solved future challenges for researchers. Moreover, the connection between these two domains is mainly subjected to GAN, thus limiting the horizons of this field. This review analyzes Text-to-Image (T2I) synthesis as a broader picture, Text-guided Visual-output (T2Vo), with the primary goal being to highlight the gaps by proposing a more comprehensive taxonomy. We broadly categorize text-guided visual output into three main divisions and meaningful subdivisions by critically examining an extensive body of literature from top-tier computer vision venues and closely related fields, such as machine learning and human-computer interaction, aiming at state-of-the-art models with a comparative analysis. This study successively follows previous surveys on T2I, adding value by analogously evaluating the diverse range of existing methods, including different generative models, several types of visual output, critical examination of various approaches, and highlighting the shortcomings, suggesting the future direction of research.
Assuntos
Aprendizado de Máquina , Redes Neurais de Computação , Humanos , Imageamento Tridimensional , Percepção VisualRESUMO
Toxoplasma gondii is a protozoan parasite that causes toxoplasmosis in warm-blooded vertebrates, globally. The main aims of this study were to assess the seropositivity to toxoplasmosis of an exotic breed of cattle (n = 400) from different farms using the Latex Agglutination Test and validate Cattle Toxo IgG ELISA kit. Of a total of 400 cattle sera that were evaluated by LAT, 143 (35.75%) were found positive. Based on these data, 90 samples (n = 60 seronegative by LAT; n = 30 seropositive by LAT) were elected for screening through a commercially available ELISA kit. The same 90 samples were screened through a Cattle Toxo IgG ELISA kit for validation purposes. Of 90 samples, 40 were seropositive in the Cattle Toxo IgG ELISA kit (100% sensitivity), and 38 were seropositive in a commercially available ELISA kit. All 50 samples in the Cattle Toxo IgG ELISA kit (96.15% specificity) were also seronegative in the commercially available ELISA kit. Hence, the sensitivity and specificity of the Cattle Toxo IgG ELISA kit came out to be 100% and 96.15%, and in LAT, it was found as 26.31% and 61.53%, respectively. Therefore, the Cattle Toxo IgG ELISA kit is a highly reliable serodiagnostic tool to diagnose bovine toxoplasmosis.
RESUMO
The modeling of security threats is equally important as the modeling of functional requirements at the design stage of software engineering. However, unlike functional requirements modeling, the modeling of security threats is neglected, which consequently introduces software defects during the early stages of software engineering. Hence, there is a need to mitigate these threats at the design stage. Security threats, specifically authentication threats, crosscut other functional and non-functional requirements when modeled using the object-oriented paradigm. This not only makes the design complex but also results in tangling and scattering problems. We therefore model authentication threats using the aspect-oriented modeling (AOM) technique since it separates crosscutting concerns and localizes them as separate units called aspects. Our main research aim is to remove scattering and tangling in security threats modeling using all the core features of the aspect-oriented technique. In this paper, we propose a research approach to model security threats and their mitigation in mal sequence diagram. Using this approach, our contribution makes a clear difference from previous work. Our first contribution is the modeling of authentication threats in the mal sequence diagram using the security profile and AOM profile. Our second contribution is the mathematical verification of the aspect-oriented mal sequence woven model in terms of correctness and completeness. Using the proposed approach, the scattering and tangling from the resultant woven model are successfully removed at the design stage. Thus, the complexity of models and the time and effort required for future modifications of design models are reduced.
Assuntos
SoftwareRESUMO
Maintaining small size has become an important consideration in the design of contemporary antenna structures. In the case of broadband circularly polarized (CP) antennas, miniaturization is a challenging process due to the necessity of simultaneous handling of electrical and field properties (reflection, axial ratio, gain), as well as ensuring sufficient frequency range of operation, especially at the lower edge of the antenna bandwidth. An additional difficulty is that-for the sake of reliability-the design process has to be based on full-wave electromagnetic simulation tools. This is a computationally expensive endeavor because rendering the minimum-size design under the assumed constraints concerning the operating frequencies requires rigorous numerical optimization, which entails massive evaluations of the structure at hand. This paper describes an algorithmic framework for efficient identification of broadband CP antenna designs that realize the best possible trade-offs (Pareto set) between the antenna size and its operating bandwidth. The designs are generated sequentially by solving local optimization tasks targeting explicit reduction of the antenna footprint with implicit constraints imposed on the reflection and axial ratio characteristics. The data accumulated during the previous iterations is employed to yield good initial points for further stages by means of inverse surrogates and extrapolation. Low cost of the process is ensured by sparse sensitivity updates within the trust-region gradient-based algorithm being the main optimization engine. The proposed methodology is demonstrated using three examples of wide-slot CP structures with the trade-off designs representing broad ranges of achievable antenna sizes and operating bandwidth. The framework can be used to assess the antenna suitability for particular application areas as well to conclusively compare alternative CP geometries from the point of view of achievable miniaturization rate and capability of fulfilling given performance requirements.
RESUMO
Electromagnetic (EM) simulation tools have become indispensable in the design of contemporary antennas. Still, the major setback of EM-driven design is the associated computational overhead. This is because a single full-wave simulation may take from dozens of seconds up to several hours, thus, the cost of solving design tasks that involve multiple EM analyses may turn unmanageable. This is where faster system representations (surrogates) come into play. Replacing expensive EM-based evaluations by cheap yet accurate metamodels seems to be an attractive solution. Still, in antenna design, application of surrogate models is hindered by the curse of dimensionality. A practical workaround has been offered by the recently reported reference-design-free constrained modeling techniques that restrict the metamodel domain to the parameter space region encompassing high-quality designs. Therein, the domain is established using only a handful of EM-simulations. This paper proposes a novel modeling technique, which incorporates the response feature technology into the constrained modeling framework. Our methodology allows for rendering accurate surrogates using exceptionally small training data sets, at the expense of reducing the generality of the modeling procedure to antennas that exhibit consistent shape of input characteristics. The proposed technique can be employed in other fields that employ costly simulation models (e.g., mechanical or aerospace engineering).
RESUMO
BACKGROUND: Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP. METHODS AND RESULTS: Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level. Homozygosity mapping using microsatellite markers established linkage of the families to XPC gene on chromosome 3p25.1. Sanger sequencing of the XPC gene identified a novel homozygous single bp deletion [NM_004628.5; c.1934del; p.(Pro645Leufs*5)] and two previously reported mutations that included a nonsense [c.1243 C>T; p.(Arg415*)] and a splice acceptor site (c.2251-1 G>C), all segregating with the disease phenotypes in the families. CONCLUSION: This report has extended the spectrum of mutations in the XPC gene and will also facilitate in diagnosis of XP and counselling of families inheriting it, which is the only inevitable tool for preventing the disease occurrence in future generations.
Assuntos
Proteínas de Ligação a DNA , Xeroderma Pigmentoso , Consanguinidade , Proteínas de Ligação a DNA/genética , Homozigoto , Humanos , Mutação , Xeroderma Pigmentoso/diagnóstico , Xeroderma Pigmentoso/genéticaRESUMO
Toxoplasma gondii is an intracellular zoonotic parasite that causes infection in a wide range of warm-blooded animals and humans. The main aim of this study was to assess the diagnostic value of the recombinant SAG1 antigen (rSAG1) for T. gondii-IgG screening through the Human Toxo IgG ELISA Kit (K). The rSAG1 was expressed in E. coli (DE3), and it was purified through metal-affinity chromatography. The rSAG1 was confirmed by immunoblotting, and it had a band on 35 kDa. Total of 400 human sera were tested by LAT and K. One hundred and twenty-two (30.5%) sera were found positive by LAT and eighty-nine (22.25%) sera were found positive by K. Out of 400 samples, 80 were selected to evaluate the performance of K through commercial Toxoplasma gondii IgG ELISA Kit (C). Out of 80 human sera, 55 (68.75%) were found positive, 25 (31.25%) were found negative by K and C, respectively. The cut-off value for K was 0.398 and it was calculated through the receiver operator characteristic curve. The ELISA plates were coated at optimized concentration of rSAG1 = 0.125 µg/mL, and the test was performed by diluting the sera at 1:50. The sensitivity and specificity of K were observed to be 98.5% and 100%, respectively. The six sera (K-L+) were found positive through LAT and these human sera were later evaluated by Western blot analysis. These sera did not produce a band equivalent to 35 kDa on WB analysis thus, LAT produced false-positive results.