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1.
PeerJ Comput Sci ; 10: e2027, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38855228

RESUMO

This article explores detecting and categorizing network traffic data using machine-learning (ML) methods, specifically focusing on the Domain Name Server (DNS) protocol. DNS has long been susceptible to various security flaws, frequently exploited over time, making DNS abuse a major concern in cybersecurity. Despite advanced attack, tactics employed by attackers to steal data in real-time, ensuring security and privacy for DNS queries and answers remains challenging. The evolving landscape of internet services has allowed attackers to launch cyber-attacks on computer networks. However, implementing Secure Socket Layer (SSL)-encrypted Hyper Text Transfer Protocol (HTTP) transmission, known as HTTPS, has significantly reduced DNS-based assaults. To further enhance security and mitigate threats like man-in-the-middle attacks, the security community has developed the concept of DNS over HTTPS (DoH). DoH aims to combat the eavesdropping and tampering of DNS data during communication. This study employs a ML-based classification approach on a dataset for traffic analysis. The AdaBoost model effectively classified Malicious and Non-DoH traffic, with accuracies of 75% and 73% for DoH traffic. The support vector classification model with a Radial Basis Function (SVC-RBF) achieved a 76% accuracy in classifying between malicious and non-DoH traffic. The quadratic discriminant analysis (QDA) model achieved 99% accuracy in classifying malicious traffic and 98% in classifying non-DoH traffic.

2.
BMC Neurol ; 24(1): 172, 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38783254

RESUMO

BACKGROUND: Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial. METHODS: This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy. RESULTS: Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified. CONCLUSION: This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.


Assuntos
Comorbidade , Epilepsia , Heterogeneidade Genética , Linhagem , Humanos , Paquistão/epidemiologia , Epilepsia/genética , Epilepsia/epidemiologia , Epilepsia/diagnóstico , Masculino , Feminino , Criança , Pré-Escolar , Adolescente , Sequenciamento do Exoma , Adulto , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/epidemiologia , Adulto Jovem , Deficiência Intelectual/genética , Deficiência Intelectual/epidemiologia , Fenótipo
3.
J Med Educ Curric Dev ; 11: 23821205241257401, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38799175

RESUMO

Objective: The aim of this study was to identify the frequency, form, and underlying factors contributing to gender inequity experienced by medical undergraduates and assess its influence on their career choices. Method: This was a cross-sectional, retrospective survey with a 100% response rate. This survey was distributed among medical students of clinical years in Karachi's private and government medical colleges from September 10th, 2021-March 30th, 2022. 430 participants were enrolled using a simple-random-sampling-technique. Chi-square/Fisher's Exact tests are employed to assess the relationships between gender and gender-based inequity in various specialties, including their characteristics, influence on career choices, adverse psychological effects, and potential mitigation strategies. Results: Among 430 respondents, 28.6% were male, and 71.4% were female. 89.1% reported gender inequity, evenly distributed in government (80.4%) and private institutions (88.1%). The general surgery and gynecology disciplines stood out, each with a 56% prevalence. In gynecology and surgery clinical-clerkships, both genders experienced similar rates, with females at 54.5% and 42.3%, and males at 56.7% and 61.6%, respectively (P-value = .000*). Disrespect from staff/professors/patients (48.8%) was the most common manifestation, driven by factors like preferences (73.7%), gender superiority (62.6%), societal attitudes (54%), and cultural norms (50.9%). Furthermore, 82.6% of students reported that gender inequity had a negative impact on their career decision (Male = 82.9%;Female = 82.4%, P-value = .899). Additionally, gender inequity also caused demotivation (78.1%), poor self-esteem (67.2%), helplessness/hopelessness (48.6%), and frustration (45.8%). Conclusions: Gender inequity is widely prevalent in the clinical-clerkships, affecting medical students' career decisions and mental health, stressing the need to prioritize and implement solutions at the undergraduate clinical-clerkship level.

4.
Future Sci OA ; 10(1): FSO953, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38817363

RESUMO

Aim: We analyzed the 100 most-cited articles on all anti-diabetic drugs. A comprehensive literature review found no bibliometrics on this. Methods: Two researchers independently extracted articles from Scopus and ranked them by citation count as the 'top 100 most-cited'. Results: The median number of citations is 1385.5. Most articles are from the USA (n = 59). Insulin has the most papers (n = 24). Majority (n = 76) were privately funded and contained at least one conflict of interest (n = 66). The New England Journal of Medicine has the most publications (n = 44). Male authors made majority of both first and last authorship positions. Conclusion: This study aims to aid in directing future research and in reducing biases.

5.
SAGE Open Med ; 12: 20503121241242610, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38601136

RESUMO

Objective: Early recognition of stroke symptoms and risk factors is important for timely intervention to improve outcomes. This study aimed to investigate differences in stroke frequency, risk factors, and presentation in pregnant and non-pregnant women of reproductive years. Methods: This multicenter ambispective cohort study, conducted from 4th August 2021 to 4th March 2023, examined strokes in women of reproductive years at the neurology outpatient/emergency department of five busiest/referred neuro-medical facilities in Karachi, Pakistan, where patients from across the nation are assessed. In all, 1210 patients were enrolled via consecutive or convenient sampling retrospectively from January 2017 to August 2021 and prospectively from August 2021 to March 2023. Pregnancy-related and non-pregnancy-related stroke occurrence and characteristics were compared using the chi-square/Fischer's exact test. Results: 56% were non-pregnancy-related strokes and 44% were pregnancy-related strokes with non-pregnancy-related strokes approximately equal throughout the reproductive years (15-24 years = 34%, 25-34 years = 25%, 35-45 years = 41%) and pregnancy-related stroke between 15 and 35 years (82%). In the non-pregnancy-related stroke, arterial stroke dominated (96.4%); while in pregnancy-related stroke, arterial stroke accounted for 61.4% and venous stroke for 38.6% of cases. Middle cerebral artery was a typical stroke site (66%). Infarction was the most significant CT/MRI finding (PRS = 89%, NPRS = 66%), with pregnancy-related stroke hemorrhagic stroke occurring in only 11% of cases and non-pregnancy-related stroke comprising one-third (34%). The most prevalent etiologies were eclampsia in pregnancy-related stroke (32%), hypertension in non-pregnancy-related stroke (40%), and cardiac problems among both groups (25%:33%). Weakness and headache were the common clinical manifestations among both groups. In the pregnancy-related and non-pregnancy-related stroke groups, the initial presentation of stroke resulted in severe disability for 91% and 75%, respectively. With timely treatment, the outcome improved significantly. The mortality rate was 7% for the pregnancy-related stroke group and 4% for the non-pregnancy-related stroke group. Conclusions: Our findings show that stroke is prevalent among reproductive-year women, posing a significant mortality risk if not adequately recognized and treated. Awareness, research, and screening of stroke risk factors and their often-overlooked early presentation (i.e., headache and weakness) in reproductive years are essential to reducing stroke occurrence among reproductive-year women.

6.
SAGE Open Med ; 12: 20503121231222822, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38264408

RESUMO

Objective: This study aims to elaborate the incidence, types, and characteristics of ligamentous knee injuries accompanying femoral-shaft fractures and their association with demographic data, fracture characteristics, and injury mechanism. Methods: This multi-center-prospective-observational study examined patients in the Shaheed Mohtarma Benazir Bhutto Institute of Trauma and Civil Hospital orthopedic wards. Using the consecutive sampling technique, 146 patients with femoral-shaft fractures were recruited, and scrutinized to determine the presence of ligamentous knee injury, through an evaluation form encompassing patients' demographic data, fracture characteristics, knee examinations, and confirmed through magnetic resonance imaging. Knee injuries were detected intra-operatively under regional/general anesthesia and post-operatively utilizing diagnostic maneuvers (varus/valgus stress, Lachman, anterior/posterior drawer, external rotation recurvatum, and McMurray tests) by 2-3 surgeons and confirmed through magnetic resonance imaging. Magnetic resonance imaging was exclusively employed in suspected false positive/negative cases, and when a titanium implant was utilized, that is, 131 cases (89.7%). Chi-square test was used to assess the relationship between incidence and type of ligamentous knee injury with demographic data, injury mechanism, and fracture characteristics. Results: Among the 146 patients with femoral-shaft fractures, 78% and 22% were males and females, with 37% experiencing associated ligamentous knee injury. Medial collateral ligament and anterior cruciate ligament were the commonest types of ligamentous injuries accompanying femoral-shaft fractures, at 44% and 33%. The Chi-square revealed a statistically significant association between the incidence of ligamentous knee injury accompanying femoral-shaft fracture with demographic data, injury mechanism, and fracture characteristics (p-value < 0.05), and was noted to be higher among males (55.6%), participants aged 18-25 years (66.7%), involved in a road traffic accident (88.9%), resulting in a complex (77.8%) and close fracture (88.9%). A similar association was seen between medial collateral ligament and anterior cruciate ligament injuries with age, injury mechanism, and fracture characteristics (p-value < 0.05). Conclusion: Our study revealed the unaddressed fact that Pakistan has a significant incidence of ligamentous knee injuries accompanying femoral-shaft fractures. These insights can empower clinicians/surgeons to understand and manage this condition effectively.

7.
NPJ Precis Oncol ; 8(1): 5, 2024 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-38184744

RESUMO

Drug sensitivity prediction models can aid in personalising cancer therapy, biomarker discovery, and drug design. Such models require survival data from randomised controlled trials which can be time consuming and expensive. In this proof-of-concept study, we demonstrate for the first time that deep learning can link histological patterns in whole slide images (WSIs) of Haematoxylin & Eosin (H&E) stained breast cancer sections with drug sensitivities inferred from cell lines. We employ patient-wise drug sensitivities imputed from gene expression-based mapping of drug effects on cancer cell lines to train a deep learning model that predicts patients' sensitivity to multiple drugs from WSIs. We show that it is possible to use routine WSIs to predict the drug sensitivity profile of a cancer patient for a number of approved and experimental drugs. We also show that the proposed approach can identify cellular and histological patterns associated with drug sensitivity profiles of cancer patients.

8.
Int J Phytoremediation ; 26(3): 405-415, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37578104

RESUMO

An experiment was carried out to explore the impact of petroleum hydrocarbons (PHs)-degrading microbial consortium (MC) on phytoremediation ability and growth of water hyacinth (WH) plants in water contaminated with lead (Pb) and PHs. Buckets (12-L capacity) were filled with water and WH plants, PHs (2,400 mg L-1) and Pb (10 mg L-1) in respective buckets. Plants were harvested after 30 days of transplanting and results showed that PHs and Pb substantially reduced the agronomic (up to 62%) and physiological (up to 49%) attributes of WH plants. However, the application of MC resulted in a substantial increase in growth (38%) and physiology (22%) of WH plants over uninoculated contaminated control. The WH + MC were able to accumulate 93% Pb and degrade/accumulate 72% of PHs as compared to initial concentration. Furthermore, combined use of WH plants and MC in co-contamination of PHs and Pb, reduced Pb and PHs contents in water by 74% and 68%, respectively, than that of initially applied concentration. Our findings suggest that the WH in combination with PHs-degrading MC could be a suitable nature-based water remediation technology for organic and inorganic contaminants and in future it can be used for decontamination of mix pollutants from water bodies.


Phytoremediation by aquatic macrophytes is a promising technique for the cleanup of environmental toxins from wastewater. To our knowledge, this is the first study reporting the integrated use of water hyacinth (WH) plants and a newly developed multi-trait microbial consortium for the simultaneous remediation of organic (i.e., petroleum hydrocarbons) and inorganic (i.e., lead) pollutants from the contaminated water. Findings of this study provide the basic but important information on the combined use of WH and microbes for remediation of mix pollution from water bodies.


Assuntos
Eichhornia , Petróleo , Poluentes do Solo , Biodegradação Ambiental , Chumbo , Hidrocarbonetos , Plantas , Poluentes do Solo/análise , Solo
9.
Med Image Anal ; 91: 102995, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37898050

RESUMO

Automated synthesis of histology images has several potential applications in computational pathology. However, no existing method can generate realistic tissue images with a bespoke cellular layout or user-defined histology parameters. In this work, we propose a novel framework called SynCLay (Synthesis from Cellular Layouts) that can construct realistic and high-quality histology images from user-defined cellular layouts along with annotated cellular boundaries. Tissue image generation based on bespoke cellular layouts through the proposed framework allows users to generate different histological patterns from arbitrary topological arrangement of different types of cells (e.g., neutrophils, lymphocytes, epithelial cells and others). SynCLay generated synthetic images can be helpful in studying the role of different types of cells present in the tumor microenvironment. Additionally, they can assist in balancing the distribution of cellular counts in tissue images for designing accurate cellular composition predictors by minimizing the effects of data imbalance. We train SynCLay in an adversarial manner and integrate a nuclear segmentation and classification model in its training to refine nuclear structures and generate nuclear masks in conjunction with synthetic images. During inference, we combine the model with another parametric model for generating colon images and associated cellular counts as annotations given the grade of differentiation and cellularities (cell densities) of different cells. We assess the generated images quantitatively using the Frechet Inception Distance and report on feedback from trained pathologists who assigned realism scores to a set of images generated by the framework. The average realism score across all pathologists for synthetic images was as high as that for the real images. Moreover, with the assistance from pathologists, we showcase the ability of the generated images to accurately differentiate between benign and malignant tumors, thus reinforcing their reliability. We demonstrate that the proposed framework can be used to add new cells to a tissue images and alter cellular positions. We also show that augmenting limited real data with the synthetic data generated by our framework can significantly boost prediction performance of the cellular composition prediction task. The implementation of the proposed SynCLay framework is available at https://github.com/Srijay/SynCLay-Framework.


Assuntos
Colo , Células Epiteliais , Humanos , Reprodutibilidade dos Testes , Contagem de Células , Técnicas Histológicas , Processamento de Imagem Assistida por Computador
10.
Sensors (Basel) ; 23(23)2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-38067819

RESUMO

This paper describes a methodological analysis of the Brillouin precursor formation to understand the impairments undergone by like-noise and random noise waveforms propagating through naturally dispersive media commonly found in radar applications. By means of a frequency-domain methodology based on considering the frequency response of the medium under study, the effect of these dispersive media on the evolution of an input signal can be seen as frequency filtering. The simulations were performed at a center frequency of 1.5 GHz and for a signal bandwidth of 3 GHz. Four random noise signals were considered: Barker codes, PRBS codes, Frank codes, Costas codes and additive white Gaussian noise. The experienced impairments were assessed in terms of cross-correlation function (CCF) degradation. The differences in the behavior of each type of phase and frequency coded signal to face the dispersive propagation have been demonstrated in terms of parameters used for information retrieval: peak amplitude decay, CCF secondary sidelobe level and multipath detectability. Finally, a frequency filtering approach is proposed to mitigate the impairments due to dispersive propagation under multipath conditions.

11.
Environ Monit Assess ; 196(1): 4, 2023 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-38044361

RESUMO

This paper is an effort of geo-statistical analysis of rainfall variability and trend detection in the eastern Hindu Kush region located in the north-west of Pakistan. The eastern section of the HK region lies in the western part of Pakistan. Exploring rainfall variability and quantifying its trend and magnitude is one of the key indicators among all climatic parameters. In the study area, Pakistan Meteorology Department (PMD) has established seven meteorological stations: Drosh, Chitral, Dir, Timergara, Saidu Sharif, Malam Jabba, and Kalam. Daily, mean monthly, and mean annual rainfall time series data for all the met stations were geo-statistically analyzed in the GIS environment for detecting monthly and annual variability in rainfall, variability, and trend detection. Mann-Kendall (MK) and Theil-Sen's slope (TSS) statistical tests were applied to rainfall data. Initially, the MK test was applied for detection of trends and TSS test was used to quantify the change in magnitude. The results indicate that the rainfall variability in intensity and trend pattern detection. The analysis confirms that an extremely significant rainfall trend in the case of mean annual rainfall was predicted at Dir and Malam Jabba meteorological stations. Opposite to this, at Kalam and Chitral stations, a less significant rainfall trend was noted. In a similar context, no prominent rainfall trend has been found at Drosh, Timergara, and Saidu Sharif meteorological stations. Likewise, using TSS, an extremely negative variation in the magnitude of rainfall was verified at Kalam and Malam Jabba. However, a noteworthy positive change in rainfall magnitude has been noted at Dir and Saidu Sharif meteorological stations. The findings of this research have the potential to assist the decision and policy makers and academicians to think truly and conduct more scientific research studies to mitigate climate change.


Assuntos
Mudança Climática , Monitoramento Ambiental , Monitoramento Ambiental/métodos , Paquistão , Meteorologia
12.
Cell Rep Med ; 4(12): 101313, 2023 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-38118424

RESUMO

Identification of the gene expression state of a cancer patient from routine pathology imaging and characterization of its phenotypic effects have significant clinical and therapeutic implications. However, prediction of expression of individual genes from whole slide images (WSIs) is challenging due to co-dependent or correlated expression of multiple genes. Here, we use a purely data-driven approach to first identify groups of genes with co-dependent expression and then predict their status from WSIs using a bespoke graph neural network. These gene groups allow us to capture the gene expression state of a patient with a small number of binary variables that are biologically meaningful and carry histopathological insights for clinical and therapeutic use cases. Prediction of gene expression state based on these gene groups allows associating histological phenotypes (cellular composition, mitotic counts, grading, etc.) with underlying gene expression patterns and opens avenues for gaining biological insights from routine pathology imaging directly.


Assuntos
Neoplasias da Mama , Perfilação da Expressão Gênica , Humanos , Feminino , Transcriptoma/genética , Redes Neurais de Computação , Fenótipo , Neoplasias da Mama/genética
13.
S Afr J Physiother ; 79(1): 1920, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37928645

RESUMO

Background: Soccer is one of the fastest growing sports in South Africa and the number of physiotherapists working with soccer teams has increased significantly. Despite increased appointments, very little is known regarding the demographic, education and work profiles of these physiotherapists. Objective: To determine the profiles of physiotherapists working with soccer teams in South Africa. Methods: A descriptive, cross-sectional study was used to collect data from physiotherapists employed with soccer teams. Physiotherapists who were employed on a part-time basis and not registered with the Health Professions Council of South Africa and who did not give consent were excluded. A total of 38 physiotherapists working with soccer teams participated in our study. A questionnaire was circulated, and participants were given 4 months to complete and submit it. Results: Results showed that participants had a mean age of 31.35 years and were employed for a mean time of 3.41 years. Most participants were African (89.48%) and worked with amateur soccer teams (52.63%). The education results indicated that 66.67% of participants held bachelor's degrees. Postgraduate- and undergraduate education were used most frequently by participants to guide clinical decision-making. Job satisfaction was satisfactory, but they were not satisfied with their salaries. Conclusion: Our study is the first to investigate the profiles of physiotherapists working with soccer teams in South Africa. Demographic, education and work profiles for physiotherapists working with soccer teams were compiled, and the lack of information regarding the profiles of these physiotherapists was identified. Clinical implications: Extensive future research is needed to inform and train physiotherapists regarding the management of soccer teams.

14.
J Int Med Res ; 51(11): 3000605231215168, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38000047

RESUMO

OBJECTIVE: To measure the severity of allergic rhinitis (AR) and different types of headaches in patients with septal deviation before and after septoplasty. METHODS: This multicentre, prospective, longitudinal, observational study enrolled patients with deviated nasal septum, nasal symptoms and headaches associated with persistent AR lasting at least 2 months without resolution. The nasal obstruction evaluation (NOSE) scale, immunoglobulin-E (Ig-E) levels and visual analogue scale (VAS) for headache pain severity were evaluated before and after septoplasty using Wilcoxon signed-rank test. RESULTS: A total of 196 patients were enrolled in the study (102 males; 94 females). A total of 134 patients (68%) were diagnosed with severe AR and 166 (85%) experienced headaches with AR. The majority (100 of 166 patients; 60%) had sinusoidal headaches, while 25% (42 of 166 patients) reported a combination of sinusoidal headache and migraine and 14% (24 of 166 patients) experienced migraines. A comparison of preoperative and postoperative Ig-E levels, NOSE and VAS scores demonstrated that septoplasty significantly improved AR symptoms and headaches. Although there were significant improvements in headaches overall post-septoplasty, only the sinusoidal components improved, while migraine remained unaffected. CONCLUSION: Septoplasty improved AR and sinusoidal headaches in patients with septal deviation, but migraines remained unaffected.


Assuntos
Transtornos de Enxaqueca , Obstrução Nasal , Rinite Alérgica , Masculino , Feminino , Humanos , Estudos Prospectivos , Resultado do Tratamento , Septo Nasal/cirurgia , Rinite Alérgica/complicações , Rinite Alérgica/cirurgia , Obstrução Nasal/cirurgia , Obstrução Nasal/complicações , Obstrução Nasal/diagnóstico , Cefaleia/etiologia , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/cirurgia
15.
Int J Biol Macromol ; 253(Pt 2): 126675, 2023 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-37660848

RESUMO

Starch plays a pivotal role in food and other industries, necessitating the exploration of new starch sources to cater the substantial requirement. This study delved into the variations in the physicochemical properties, structure attributes and in vitro digestibility of seed starches extracted from five distinct loquat cultivars (Eriobotrya japonica L.). The starch extraction yield of loquat seeds was found to be 45.2 % as an average. Loquat seed starches were designated as having high-amylose starch (>50 %). The starch granules exhibited similar shapes, but granular size significantly varied across the cultivars. Loquat starches presented a C-type crystalline pattern with relative crystallinity from 17.14 % to 21.06 %. The short-range ordered structure of the starches differed with loquat cultivars. The swelling power, solubility and amylose leaching of loquat starches increased with increasing temperature, significantly varying among different cultivars. Gelatinization parameters exhibited significant variations among the loquat starches. Different loquat starches exhibited pronounced variations in paste clarity, water and oil absorption capacity. Marked differences were detected in proportions of rapidly digestible starch (RDS), slowly digestible starch (SDS), and resistant starch (RS) across the five cultivars, with RS being particularly prominent fraction with an average of 84.30 %. These compressive findings offer valuable insights into the potential application of loquat seed starches in the formulation of foods and various industrial products.


Assuntos
Amilose , Eriobotrya , Amilose/química , Amido/química , Sementes , Amido Resistente
16.
BMC Ophthalmol ; 23(1): 205, 2023 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-37165311

RESUMO

BACKGROUND: Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study aimed to further increase understanding of the spectrum of RP in the Khyber Pakhtunkhwa region of Pakistan. METHODOLOGY: Four consanguineous families of Pashtun ethnic group were investigated which were referred by the local collaborating ophthalmologists. In total 42 individuals in four families were recruited and investigated using whole exome and dideoxy sequencing. Among them, 20 were affected individuals including 6 in both family 1 and 2, 5 in family 3 and 3 in family 4. RESULT: Pathogenic gene variants were identified in all four families, including two in cone dystrophy and RP genes in the same family (PDE6C; c.480delG, p.Asn161ThrfsTer33 and TULP1; c.238 C > T, p.Gln80Ter) with double-homozygous individuals presenting with more severe disease. Other pathogenic variants were identified in MERTK (c.2194C > T, p.Arg732Ter), RHO (c.448G > A, p.Glu150Lys) associated with non-syndromic RP, and MYO7A (c.487G > A, p.Gly163Arg) associated with USH. In addition, the reported variants were of clinical significance as the PDE6C variant was detected novel, whereas TULP1, MERTK, and MYO7A variants were detected rare and first time found segregating with retinal dystrophies in Pakistani consanguineous families. CONCLUSIONS: This study increases knowledge of the genetic basis of retinal dystrophies in families from Pakistan providing information important for genetic testing and diagnostic provision particularly from the Khyber Pakhtunkhwa region.


Assuntos
Distrofias Retinianas , Retinose Pigmentar , Humanos , Consanguinidade , Paquistão , c-Mer Tirosina Quinase/genética , Mutação , Distrofias Retinianas/genética , Retinose Pigmentar/diagnóstico , Linhagem , Análise Mutacional de DNA
17.
Environ Geochem Health ; 45(7): 5231-5244, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37097602

RESUMO

Although irrigation water is a fundamental need for plant growth, it is also a source of pollutants if contaminated with harmful materials like cadmium (Cd). Irrigation water possessing abundant Cd causes damage to soil, plants, animals and ultimately human beings through the food chain. A pot experiment was conducted to evaluate the gladiolus (Gladiolus grandiflora L.) potential of Cd accumulation and the capability of the plant to be an economically beneficial choice in presence of high Cd irrigation water supply. Artificially prepared four levels of Cd irrigation water were applied to the plants viz., 30, 60, 90 and 120 mg L-1. The results revealed that 30 mg L-1 Cd had no difference in all growth-related parameters when compared to the control. Photosynthesis rate, stomatal conductance and transpiration rate along with plant height and spike length were reduced with high accumulation levels of Cd in plants. The main plant portion for Cd storage found in Gladiolus grandiflora L was corm where the amount of Cd was 10-12 times higher than the amount found in leaves, and 2-4 times more than the stem. This deportment was further established by the translocation factor (TF). In corm to shoot TF and corm to stem TF, the factor reduced with increasing Cd levels, while, in corm to leaves TF, Cd levels were statistically non-significant. From corm to shoot TF value of 0.68 and 0.43 in case of 30 and 60 mg L-1, Cd treatments indicates good phytoremediation potential of Gladiolus in low and moderate Cd-polluted environments. Conclusively, the study reveals the good capability of Gladiolus grandiflora L. to harvest Cd from the soil and water in reasonably good amount with sufficient potential to grow under irrigation-based Cd stress. Under revelations of the study, Gladiolus grandiflora L appeared as a Cd accumulator which could potentially be used as a sustainable approach for phytoremediation of Cd.


Assuntos
Cádmio , Poluentes do Solo , Humanos , Cádmio/toxicidade , Cádmio/análise , Biodegradação Ambiental , Poluentes do Solo/toxicidade , Poluentes do Solo/análise , Água , Solo , Raízes de Plantas/química
18.
SAGE Open Med ; 11: 20503121231157217, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36949826

RESUMO

Objective: Our goal was to deduce the prevalence of low back pain among medical doctors in the teaching hospitals of Karachi, Pakistan, along with its associated variables and the functional disability accompanying it. Methods: This cross-sectional study was conducted among medical doctors from Creek General Hospital and United Hospital, affiliated with United Medical and Dental College, Karachi, Pakistan. A sample of 80 participants was included in this study, and a non-probability convenient sampling with randomization was utilized. Using a three-part questionnaire that included the Oswestry Disability Index, all participants were scrutinized for low back pain with its characteristics, associated risk factors, and functional disability. Results: Seventy percent of medical doctors included in this study suffered from the problem of low back pain, with 68% experiencing it over the last 3 months to 1 year. Furthermore, 89% and 11% suffered from minimal and moderate disability, respectively, affecting day-to-day and work life. Moreover, this study also found a significantly positive association (p value < 0.05*) of low back pain with age and work-related characteristics and was more common in those with work experience between 1 and 10 years, >8 working hours, >4 standing hours, and belonging to the surgery and medicine specialties. The association was significantly positive according to the chi-square/Fischer exact test. Conclusion: Our study addressed the evidence that low back pain is prevalent among medical doctors in teaching hospitals in Karachi, Pakistan, potentially affecting patient treatment and student education and accentuating the need for further intervention and research among doctors worldwide.

19.
Animals (Basel) ; 12(24)2022 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-36552510

RESUMO

Estimating genetic parameters for growth traits is crucial to plan breeding strategies for improving meat production in indigenous sheep breeds. The study first tested the effects of environmental and maternal effects on five growth traits, including birth weight (BWT), weight at 120 days (WT120), weight at 180 days (WT180), weight at 270 days (WT270) and weight at 365 days of age (WT365) and then estimated genetic parameters for these traits using data obtained in 1215 Lohi sheep. The effects of factors, including year (YOB), season (SOB) and type of birth (TOB), age of dam (AOD) and sex on growth traits of Lohi sheep, were examined using analysis of variance (ANOVA) in R software. Sex, TOB and YOB significantly affected all studied traits. The estimates of direct and maternal heritability for BWT and WT120 were 0.15 ± 0.08 and 0.20 ± 0.06, and 0.45 ± 0.16, 0.21 ± 0.08, respectively. The direct heritability estimates for WT180, WT270 and WT365 were 0.20 ± 0.07, 0.21 ± 0.07 and 0.19 ± 0.08, respectively. Due to the high heritability estimate obtained for WT120 compared to other studied traits, and its strong genetic correlation (>0.9) with post-weaning growth traits, it is recommended that selection must be practiced on WT120 to improve the growth performance of Lohi sheep. The results could be used for the development of genetic/genomic selection programs aiming to improve the production performance of the Lohi sheep.

20.
Med Image Anal ; 80: 102486, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35640384

RESUMO

Human epidermal growth factor receptor 2 (HER2) is an important prognostic and predictive factor which is overexpressed in 15-20% of breast cancer (BCa). The determination of its status is a key clinical decision making step for selection of treatment regimen and prognostication. HER2 status is evaluated using transcriptomics or immunohistochemistry (IHC) through in-situ hybridisation (ISH) which incurs additional costs and tissue burden and is prone to analytical variabilities in terms of manual observational biases in scoring. In this study, we propose a novel graph neural network (GNN) based model (SlideGraph+) to predict HER2 status directly from whole-slide images of routine Haematoxylin and Eosin (H&E) stained slides. The network was trained and tested on slides from The Cancer Genome Atlas (TCGA) in addition to two independent test datasets. We demonstrate that the proposed model outperforms the state-of-the-art methods with area under the ROC curve (AUC) values > 0.75 on TCGA and 0.80 on independent test sets. Our experiments show that the proposed approach can be utilised for case triaging as well as pre-ordering diagnostic tests in a diagnostic setting. It can also be used for other weakly supervised prediction problems in computational pathology. The SlideGraph+ code repository is available at https://github.com/wenqi006/SlideGraph along with an IPython notebook showing an end-to-end use case at https://github.com/TissueImageAnalytics/tiatoolbox/blob/develop/examples/full-pipelines/slide-graph.ipynb.


Assuntos
Neoplasias da Mama , Biomarcadores Tumorais , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/genética , Feminino , Humanos , Imuno-Histoquímica , Hibridização In Situ , Prognóstico
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