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1.
Ophthalmologie ; 121(2): 157-170, 2024 Feb.
Article in German | MEDLINE | ID: mdl-38300260

ABSTRACT

The aim of global ophthalmology is to maximize vision, ocular health and functional ability, thereby contributing to overall health and well-being, social inclusion and quality of life of every individual worldwide. Currently, an estimated 1.1 billion people live with visual impairment, 90% of which can be prevented or cured through largely cost-effective interventions. At the same time, 90% of people affected live in regions with insufficient eye health coverage. This challenge drove the World Health Organization (WHO) and a group of nongovernmental organizations to launch "VISION 2020: the Right to Sight", a global campaign which recently concluded after 20 years. The achievements, challenges and lessons learned were identified and incorporated into the current campaign "2030 IN SIGHT".


Subject(s)
Ophthalmology , Vision, Low , Humans , Quality of Life , World Health Organization , Organizations
2.
J Fluoresc ; 33(5): 1695-1704, 2023 Sep.
Article in English | MEDLINE | ID: mdl-36811695

ABSTRACT

The potential of Fluorescence spectroscopy has been utilized for the quality analysis of canola and mustard oil along with the effect of heating on their molecular composition has been investigated. Laser diode at 405 nm has been employed directly to oil surface to excite both oil type samples and their emission spectra has been recorded by an in-house developed Fluorosensor. The emission spectra of both oil types unveiled that they contain carotenoids, isomers of vitamin E and chlorophylls that exhibit their fluorescence at 525 and 675/720 nm, and these can be used as markers for their quality assurance. Fluorescence spectroscopy is a fast, reliable and non-destructive analytical technique for the quality assessment of both oil types. Moreover, the effect of temperature on their molecular composition has been investigated by heating them at 110, 120, 130, 140, 150, 170, 180 and 200 °C, each sample for 30 min which was done because both oils are used for cooking and frying. On heating, the deterioration of carotenoids and isomers of vitamin E in both oil types occurred with an increase in the oxidised products. However, it was found that up to 150 °C, both oil types can be used safely for cooking/frying purpose where they do not lose much of their valuable ingredients and up to 180 °C for deep frying, both oils can be used with less deterioration and after that both deteriorated much due to rapid increase of the oxidized products. The portable Fluorosensor, therefore, proved as an excellent device for quality screening of edible oils based on carotenoids and vitamin E.


Subject(s)
Hot Temperature , Plant Oils , Spectrometry, Fluorescence , Plant Oils/chemistry , Vitamin E , Carotenoids
3.
Empir Softw Eng ; 28(1): 2, 2023.
Article in English | MEDLINE | ID: mdl-36407814

ABSTRACT

An increasing number of mental health services are now offered through mobile health (mHealth) systems, such as in mobile applications (apps). Although there is an unprecedented growth in the adoption of mental health services, partly due to the COVID-19 pandemic, concerns about data privacy risks due to security breaches are also increasing. Whilst some studies have analyzed mHealth apps from different angles, including security, there is relatively little evidence for data privacy issues that may exist in mHealth apps used for mental health services, whose recipients can be particularly vulnerable. This paper reports an empirical study aimed at systematically identifying and understanding data privacy incorporated in mental health apps. We analyzed 27 top-ranked mental health apps from Google Play Store. Our methodology enabled us to perform an in-depth privacy analysis of the apps, covering static and dynamic analysis, data sharing behaviour, server-side tests, privacy impact assessment requests, and privacy policy evaluation. Furthermore, we mapped the findings to the LINDDUN threat taxonomy, describing how threats manifest on the studied apps. The findings reveal important data privacy issues such as unnecessary permissions, insecure cryptography implementations, and leaks of personal data and credentials in logs and web requests. There is also a high risk of user profiling as the apps' development do not provide foolproof mechanisms against linkability, detectability and identifiability. Data sharing among 3rd-parties and advertisers in the current apps' ecosystem aggravates this situation. Based on the empirical findings of this study, we provide recommendations to be considered by different stakeholders of mHealth apps in general and apps developers in particular. We conclude that while developers ought to be more knowledgeable in considering and addressing privacy issues, users and health professionals can also play a role by demanding privacy-friendly apps. Supplementary Information: The online version contains supplementary material available at 10.1007/s10664-022-10236-0.

5.
Trans R Soc Trop Med Hyg ; 115(10): 1102-1105, 2021 10 01.
Article in English | MEDLINE | ID: mdl-34291283

ABSTRACT

The first coronavirus disease 2019 (COVID-19) interim guidance released by the World Health Organization recommended suspension of non-urgent community health interventions, including mass drug administration (MDA) for neglected tropical diseases. However, with no end in sight for the COVID-19 pandemic, it was crucial to find ways to restart MDA while testing measures to reduce the risk of COVID-19 transmission between health workers, volunteers and communities. Consequently, guidelines were developed for delivering MDA safely in a COVID-19 context and the training and implementation were assessed through an observation checklist. The study also gathered data on the feasibility of using the MDA platform to disseminate COVID-19 health education. The results suggest that delivering MDA safely in a COVID-19 context is possible but revealed significant challenges in using the MDA platform for COVID-19 education.


Subject(s)
COVID-19 , Trachoma , Anti-Bacterial Agents/therapeutic use , Humans , Mass Drug Administration , Pandemics , SARS-CoV-2 , Trachoma/drug therapy , Trachoma/epidemiology , Trachoma/prevention & control
6.
JMIR Mhealth Uhealth ; 9(6): e15654, 2021 06 21.
Article in English | MEDLINE | ID: mdl-34152277

ABSTRACT

BACKGROUND: Mobile health (mHealth) apps have gained significant popularity over the last few years due to their tremendous benefits, such as lowering health care costs and increasing patient awareness. However, the sensitivity of health care data makes the security of mHealth apps a serious concern. Poor security practices and lack of security knowledge on the developers' side can cause several vulnerabilities in mHealth apps. OBJECTIVE: In this review paper, we aimed to identify and analyze the reported challenges concerning security that developers of mHealth apps face. Additionally, our study aimed to develop a conceptual framework with the challenges for developing secure apps faced by mHealth app development organizations. The knowledge of such challenges can help to reduce the risk of developing insecure mHealth apps. METHODS: We followed the systematic literature review method for this review. We selected studies that were published between January 2008 and October 2020 since the major app stores launched in 2008. We selected 32 primary studies using predefined criteria and used a thematic analysis method for analyzing the extracted data. RESULTS: Of the 1867 articles obtained, 32 were included in this review based on the predefined criteria. We identified 9 challenges that can affect the development of secure mHealth apps. These challenges include lack of security guidelines and regulations for developing secure mHealth apps (20/32, 63%), developers' lack of knowledge and expertise for secure mHealth app development (18/32, 56%), lack of stakeholders' involvement during mHealth app development (6/32, 19%), no/little developer attention towards the security of mHealth apps (5/32, 16%), lack of resources for developing a secure mHealth app (4/32, 13%), project constraints during the mHealth app development process (4/32, 13%), lack of security testing during mHealth app development (4/32, 13%), developers' lack of motivation and ethical considerations (3/32, 9%), and lack of security experts' engagement during mHealth app development (2/32, 6%). Based on our analysis, we have presented a conceptual framework that highlights the correlation between the identified challenges. CONCLUSIONS: While mHealth app development organizations might overlook security, we conclude that our findings can help them to identify the weaknesses and improve their security practices. Similarly, mHealth app developers can identify the challenges they face to develop mHealth apps that do not pose security risks for users. Our review is a step towards providing insights into the development of secure mHealth apps. Our proposed conceptual framework can act as a practice guideline for practitioners to enhance secure mHealth app development.


Subject(s)
Mobile Applications , Telemedicine , Health Facilities , Humans , Knowledge
7.
Genes (Basel) ; 11(11)2020 10 28.
Article in English | MEDLINE | ID: mdl-33126620

ABSTRACT

The performance of genomic prediction (GP) on genetically correlated traits can be improved through an interdependence multi-trait model under a multi-environment context. In this study, a panel of 237 soft facultative wheat (Triticumaestivum L.) lines was evaluated to compare single- and multi-trait models for predicting grain yield (GY), harvest index (HI), spike fertility (SF), and thousand grain weight (TGW). The panel was phenotyped in two locations and two years in Florida under drought and moderately drought stress conditions, while the genotyping was performed using 27,957 genotyping-by-sequencing (GBS) single nucleotide polymorphism (SNP) makers. Five predictive models including Multi-environment Genomic Best Linear Unbiased Predictor (MGBLUP), Bayesian Multi-trait Multi-environment (BMTME), Bayesian Multi-output Regressor Stacking (BMORS), Single-trait Multi-environment Deep Learning (SMDL), and Multi-trait Multi-environment Deep Learning (MMDL) were compared. Across environments, the multi-trait statistical model (BMTME) was superior to the multi-trait DL model for prediction accuracy in most scenarios, but the DL models were comparable to the statistical models for response to selection. The multi-trait model also showed 5 to 22% more genetic gain compared to the single-trait model across environment reflected by the response to selection. Overall, these results suggest that multi-trait genomic prediction can be an efficient strategy for economically important yield component related traits in soft wheat.


Subject(s)
Computational Biology/methods , Gene-Environment Interaction , Plant Breeding/methods , Quantitative Trait Loci/genetics , Triticum/genetics , Agriculture/methods , Algorithms , Bayes Theorem , Edible Grain/genetics , Genome, Plant/genetics , Genomics/methods , Models, Genetic , Polymorphism, Single Nucleotide/genetics , Selection, Genetic/genetics
8.
PLoS One ; 15(4): e0231426, 2020.
Article in English | MEDLINE | ID: mdl-32271848

ABSTRACT

Demand for agricultural crop continues to escalate in response to increasing population and damage of prime cropland for cultivation. Research interest is diverted to utilize soils with marginal plant production. Moisture stress has negative impact on crop growth and productivity. The plant growth promoting rhizobacteria (PGPR) and plant growth regulators (PGR) are vital for plant developmental process under moisture stress. The current study was carried out to investigate the effect of PGPR and PGRs (Salicylic acid and Putrescine) on the physiological activities of chickpea grown in sandy soil. The bacterial isolates were characterized based on biochemical characters including Gram-staining, P-solubilisation, antibacterial and antifungal activities and catalases and oxidases activities and were also screened for the production of indole-3-acetic acid (IAA), hydrogen cyanide (HCN) and ammonia (NH3). The bacterial strains were identified as Bacillus subtilis, Bacillus thuringiensis and Bacillus megaterium based on the results of 16S-rRNA gene sequencing. Chickpea seeds of two varieties (Punjab Noor-2009 and 93127) differing in sensitivity to drought were soaked for 3 h before sowing in fresh grown cultures of isolates. Both the PGRs were applied (150 mg/L), as foliar spray on 20 days old seedlings of chickpea. Moisture stress significantly reduced the physiological parameters but the inoculation of PGPR and PGR treatment effectively ameliorated the adverse effects of moisture stress. The result showed that chickpea plants treated with PGPR and PGR significantly enhanced the chlorophyll, protein and sugar contents. Shoot and root fresh (81%) and dry weights (77%) were also enhanced significantly in the treated plants. Leaf proline content, lipid peroxidation and antioxidant enzymes (CAT, APOX, POD and SOD) were increased in reaction to drought stress but decreased due to PGPR. The plant height (61%), grain weight (41%), number of nodules (78%) and pod (88%), plant yield (76%), pod weight (53%) and total biomass (54%) were higher in PGPR and PGR treated chickpea plants grown in sandy soil. It is concluded from the present study that the integrative use of PGPR and PGRs is a promising method and eco-friendly strategy for increasing drought tolerance in crop plants.


Subject(s)
Agriculture , Bacillaceae/physiology , Cicer/growth & development , Plant Growth Regulators/pharmacology , Ammonia/metabolism , Bacillaceae/genetics , Bacillaceae/isolation & purification , Bacillus megaterium/genetics , Bacillus megaterium/isolation & purification , Bacillus subtilis/genetics , Bacillus subtilis/isolation & purification , Bacillus subtilis/physiology , Biomass , Chlorophyll/analysis , Cicer/drug effects , Cicer/metabolism , Indoleacetic Acids/metabolism , Lipid Peroxidation/drug effects , Plant Growth Regulators/metabolism , Plant Leaves/metabolism , Plant Proteins/metabolism , Plant Roots/metabolism , Plant Roots/microbiology , Putrescine/metabolism , Putrescine/pharmacology , RNA, Ribosomal, 16S/chemistry , RNA, Ribosomal, 16S/metabolism , Rain , Salicylic Acid/metabolism , Salicylic Acid/pharmacology , Seedlings/drug effects , Seedlings/growth & development , Soil Microbiology
9.
Neurocirugía (Soc. Luso-Esp. Neurocir.) ; 30(2): 94-99, mar.-abr. 2019. ilus, tab
Article in English | IBECS | ID: ibc-182008

ABSTRACT

Encephaloceles are uncommon in western countries and most cases are located in the occipital bone. Frontal encephaloceles may involve the ethmoid bone, nasal bones and/or the orbits. Surgical repair is complex and usually requires a multidisciplinary approach. The goal of the surgery is to reconstruct the normal anatomy, to achieve a good cosmetic repair and to avoid a cerebrospinal fluid leak. We present a case of a patient with a large congenital frontoethmoidal encephalocele. Autologous calvarian bone grafts were used to repair of encephalocele defect and for the reconstruction of the frontonasal area. The defect closure and the cosmetic result were satisfactory, and the only complication detected was the infection of a previously performed ventriculoperitoneal shunt. A description of the technique and a review of the literature are presented


Los encefaloceles son infrecuentes en los países occidentales y su localización más frecuente es occipital. Los encefaloceles frontales pueden afectar hueso etmoidal, frontal y/o órbitas. La reparación quirúrgica es compleja y habitualmente precisa de un abordaje multidisciplinar. El objetivo de la cirugía es reconstruir la anatomía del paciente con un buen resultado estético, y evitar la fístula de líquido cefalorraquídeo. Se presenta un caso de un gran encefalocele frontoetmoidal. El encefalocele fue reparado y la reconstrucción ósea se realizó con hueso autólogo de la capota craneal. El cierre y el resultado cosmético fueron buenos y la única complicación fue una infección posquirúrgica. Se describe la técnica y se revisa la literatura publicada al respecto


Subject(s)
Humans , Female , Infant, Newborn , Encephalocele/diagnostic imaging , Encephalocele/surgery , Craniotomy/methods , Nasal Bone/surgery , Postoperative Complications , Encephalocele/congenital , Ethmoid Sinus/abnormalities , Ethmoid Sinus/surgery , Nasal Bone/abnormalities
10.
Arch Microbiol ; 201(6): 769-785, 2019 Aug.
Article in English | MEDLINE | ID: mdl-30843087

ABSTRACT

The present study was aimed to investigate the effects of plant growth promoting rhizobacteria (PGPR) and plant growth regulators (PGRs) on the physiology and yield of wheat grown in less fertile sandy soil. The isolated PGPR strains were identified by 16S-rRNA gene sequencing as Planomicrobium chinense (P1), Bacillus cereus (P2) and Pseudomonas fluorescens (P3). Wheat varieties (Galaxy-13 and Pak-2013) differing in sensitivity to drought were soaked in fresh cultures of bacterial isolates and the PGRs (salicylic acid and putrescine) were sprayed at 150 mg/L on seedlings at three leaf stage. PGPR and PGRs treated plants showed significant increase in the contents of chlorophyll, sugar and protein even under harsh environmental conditions. Drought stress enhanced the production of proline, antioxidant enzymes and lipid peroxidation but a decrease was noted in the biochemical content (i.e. chlorophyll, protein and sugar) of inoculated plants. PGPR inoculation also significantly enhanced the yield parameters (i.e. plant height, spike length, grain yield and weight) and improved the fertility status of sandy soil. The accumulation of macronutrient, total NO3-N and P concentration and soil moisture content of rhizosphere soil was also enhanced by PGPRs inoculation. It is concluded that the combined effects of PGPR and PGRs have profound effects on the biochemical responses and drought tolerance of wheat grown in sandy soils.


Subject(s)
Bacillus cereus/isolation & purification , Planococcaceae/physiology , Plant Growth Regulators/pharmacology , Pseudomonas fluorescens/physiology , Triticum/microbiology , Bacillus cereus/genetics , Chlorophyll/metabolism , Droughts , Planococcaceae/genetics , Planococcaceae/isolation & purification , Plant Roots/growth & development , Plant Roots/metabolism , Plant Roots/microbiology , Pseudomonas fluorescens/genetics , Pseudomonas fluorescens/isolation & purification , Putrescine/pharmacology , Salicylic Acid/pharmacology , Seedlings/growth & development , Seedlings/metabolism , Seedlings/microbiology , Soil/chemistry , Soil Microbiology , Triticum/drug effects , Triticum/growth & development , Triticum/metabolism
11.
Neurocirugia (Astur : Engl Ed) ; 30(2): 94-99, 2019.
Article in English, Spanish | MEDLINE | ID: mdl-29610064

ABSTRACT

Encephaloceles are uncommon in western countries and most cases are located in the occipital bone. Frontal encephaloceles may involve the ethmoid bone, nasal bones and/or the orbits. Surgical repair is complex and usually requires a multidisciplinary approach. The goal of the surgery is to reconstruct the normal anatomy, to achieve a good cosmetic repair and to avoid a cerebrospinal fluid leak. We present a case of a patient with a large congenital frontoethmoidal encephalocele. Autologous calvarian bone grafts were used to repair of encephalocele defect and for the reconstruction of the frontonasal area. The defect closure and the cosmetic result were satisfactory, and the only complication detected was the infection of a previously performed ventriculoperitoneal shunt. A description of the technique and a review of the literature are presented.


Subject(s)
Encephalocele , Encephalocele/diagnosis , Encephalocele/surgery , Ethmoid Bone , Female , Humans , Infant, Newborn
12.
Glob Chang Biol ; 25(1): 155-173, 2019 01.
Article in English | MEDLINE | ID: mdl-30549200

ABSTRACT

Wheat grain protein concentration is an important determinant of wheat quality for human nutrition that is often overlooked in efforts to improve crop production. We tested and applied a 32-multi-model ensemble to simulate global wheat yield and quality in a changing climate. Potential benefits of elevated atmospheric CO2 concentration by 2050 on global wheat grain and protein yield are likely to be negated by impacts from rising temperature and changes in rainfall, but with considerable disparities between regions. Grain and protein yields are expected to be lower and more variable in most low-rainfall regions, with nitrogen availability limiting growth stimulus from elevated CO2 . Introducing genotypes adapted to warmer temperatures (and also considering changes in CO2 and rainfall) could boost global wheat yield by 7% and protein yield by 2%, but grain protein concentration would be reduced by -1.1 percentage points, representing a relative change of -8.6%. Climate change adaptations that benefit grain yield are not always positive for grain quality, putting additional pressure on global wheat production.


Subject(s)
Adaptation, Physiological , Climate Change , Grain Proteins/analysis , Triticum/chemistry , Triticum/physiology , Carbon Dioxide/metabolism , Droughts , Food Quality , Models, Theoretical , Nitrogen/metabolism , Temperature
14.
Pediatr Emerg Med Pract ; 15(1): 1-28, 2018 Jan.
Article in English | MEDLINE | ID: mdl-29261480

ABSTRACT

Behavioral health emergencies most commonly present as depression, suicidal behavior, aggression, and severe disorganization. Emergency clinicians should avoid relying solely on past medical history or previous psychiatric diagnoses that might prematurely rule out medical pathologies. Treatments for behavioral health emergencies consist of de-escalation interventions aimed at preventing agitation, aggression, and harm. This issue reviews medical pathologies and underlying causes that can result in psychiatric presentations and summarizes evidence-based practices to evaluate, manage, and refer patients with behavioral health emergencies.


Subject(s)
Emergency Services, Psychiatric/methods , Mental Disorders/diagnosis , Adolescent , Child , Emergencies , Humans , Mental Disorders/therapy , Practice Guidelines as Topic
15.
Trop Anim Health Prod ; 48(7): 1343-9, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27307277

ABSTRACT

Modern molecular interventions are dynamic gears for breeding animals with superior genetic make-up. These scientific efforts lead us toward sustainable dairy herds with improved milk production in terms of yield and quality. Many of candidate genes have been dissected at molecular level, and suitable genetic markers have been identified in cattle, but this work has not been validated in buffaloes so far. Stearoyl-coenzyme A desaturase (SCD) has been a potential candidate gene for fat content of milk. Genomic analysis of SCD revealed a total of six variations that were identified through DNA sequencing of animals with lower and higher butter fat %age. After statistical analysis, genotype AB of p.K158I could be associated (P value <0.0001) with higher milk fat %age (10.5 ± 0.5464). This SNP was validated on larger data set by cleaved amplified polymorphic sequences (CAPS) by using DdeI. To scrutinize the functional consequences of p.K158I, 3D protein structure of SCD was predicted by homology modeling and this variation was found located in the vicinity of functional domain and a part of transmembrane helix of this membrane integrated protein. This is a first report toward genetic screening of SCD gene at molecular level in buffalo. This report illustrates the implication of SCD gene and in particular p.K158I variation, in imparting its effect on milk fat %age, which can be targeted in selection of superior dairy buffaloes.


Subject(s)
Animal Husbandry , Cattle/physiology , Dairying , Milk/chemistry , Selective Breeding , Stearoyl-CoA Desaturase/genetics , Animals , Female , Genotype , Milk/standards , Pakistan , Polymorphism, Single Nucleotide , Tropical Climate
16.
Surgeon ; 14(2): 76-81, 2016 Apr.
Article in English | MEDLINE | ID: mdl-25444440

ABSTRACT

INTRODUCTION: The role of sentinel lymph node micrometastases on histopathological analysis is controversial in axillary staging and management in clinically node negative breast cancer. Long-term studies addressing the clinical relevance of occult breast cancer in sentinel lymph nodes based on molecular analysis are lacking. One Step Nucleic Acid Amplification (OSNA), a highly sensitive assay of cytokeratin 19 mRNA, is used intra-operatively for the detection of lymph node macro- and micrometastases in breast cancer. AIM: The aim of this study is to review the rate of micrometastases and further histopathological NSLN metastases, in our unit following the introduction of OSNA in Guildford. METHODS: Data was collected prospectively from the period of introduction 01/12/2008 to 31/05/2013. All patients eligible for sentinel lymph node biopsy were offered OSNA and operations were performed by the consultant breast surgeons. Presence or absence of micro-metastases depends on the agreed cut-off point on the amplification curve. On detection of micrometastases (+) and positive but inhibited (i+) metastases, a level 1 axillary clearance (ANC) was performed and for a macrometastasis (++), a level 3 ANC was carried out. RESULTS: 66% of the patients had negative SLN (n = 672) and 34% (n = 336) had positive sentinel lymph nodes who had further axillary surgery. Of these, 45% (n = 152/336) had macrometastases, 40% (n = 136/336) had micrometastases and 15% (48/336) had positive but inhibited results. There was no difference in the patient demographics and tumour characteristics in the various positive SLN groups. In patients with micrometastases, 15% (20/136) had further positive NLSNs and a further 6% (8/136) had >4 overall positive nodes (SLN + NSLN) thus requiring adjuvant supraclavicular/chest wall radiotherapy (p < 0.05). 25% of node positive patients had further NLSN metastases (85/336) and in these patients, the ratio of positive SLN/harvested SLN (+SLN/SLN) is constant at 1:1. This shows the likelihood of further positive NSLNs if all the harvested lymph nodes are positive. This linear trend is present in both micro-and macrometastases, thus correlating with the size and number of NSLN metastases. CONCLUSION: Our study reflects the tumour burden of NSLNs based on the molecular analysis of the SLN. OSNA has the potential to accurately identify axillary micrometastases. Micro-metastases are important as some of the patients with micrometastases had overall four positive nodes [SLN + NSLN] (criteria for radiotherapy in the absence of other adverse clinicopathological features). Also, our study highlights certain factors that predict the NSLN metastases, pending validation by further prospective long-term data. This will allow accurate calculation of the axillary tumour burden, particularly in patients with micro-metastases.


Subject(s)
Breast Neoplasms/genetics , DNA, Neoplasm/analysis , Lymph Nodes/pathology , Nucleic Acid Amplification Techniques/methods , Sentinel Lymph Node Biopsy/methods , Adult , Aged , Aged, 80 and over , Axilla , Breast Neoplasms/diagnosis , Breast Neoplasms/secondary , Female , Follow-Up Studies , Humans , Middle Aged , Neoplasm Micrometastasis , Retrospective Studies , Time Factors
17.
Iran J Vet Res ; 17(4): 231-236, 2016.
Article in English | MEDLINE | ID: mdl-28224005

ABSTRACT

Current research highlights the Hspb1 based screening of eight cat populations of the world to investigate the association of newly found locus within cat mammary tumors. Total 180 cats were screened on the basis of Hspb1 4 bp deletion locus (1514-1517del4) which was observed in six mammary tumor cases in Siamese cat breed. Case-control association study revealed the non-significance with P=0.201 and an overall mutant allele frequency of 0.30 ranging from 0.20-0.40 was observed in other cat populations. Similarly, HWE was also obeyed in combined population samples with P=0.860 and found non-significant with range of 0.429-0.708 in other non-Pakistani cat populations as well. These results might be helpful to understand the association of this novel locus in a better way with large sample size of cases and may also serve as a potential marker for mammary tumor diagnosis, particularly in cats and generally in all other animal populations in comparative genetics and genomics context.

18.
Genet Mol Res ; 14(4): 17109-23, 2015 Dec 16.
Article in English | MEDLINE | ID: mdl-26681058

ABSTRACT

We studied the genetic variability due to mutation induced by γ-rays (10, 15, and 20 Kr) on various traits of twelve rice genotypes. Mutated and non-mutated seeds were sown in the field between July 2013 and 2014 using a split plot design. Yield and yield-related trait data was recorded, which showed significant (P < 0.05) genotypic and irradiation effects. Gamma radiation exerted non-significant effects on the panicle length of all plants, indicating the uniformity of performance of this character at different radiation levels. The plant height, grains per main panicle, panicle length, 1000-grain weight, grain weight per main panicle, and fertility percentage was minimum in Basmati-198, Basmati-Pak, Shaheen-2000, Super Basmati, Basmati-385, and Super Basmati, respectively, when exposed to radiation at 20 Kr. However, Basmati-370 attained maximum flag leaf area at this level of radiation. Broad sense heritability ranged from 72.0 to 97.7%, indicating the possibility of selection during earlier generations. Phenotypic correlation was positive and significant between grain weight per main panicle with panicle length and flag leaf area. Number of grains per main panicle and genotypic correlation were positive among grain weight per main panicle, panicle length, fertility percentage, 1000-grain weight, and plant height, indicating the effectiveness of these traits in the selection for yield. Phylogenetic analyses revealed a pair-wise similarity ranging from 0.51-0.76 before mutation and 0.39-0.89 after mutation. This study proved that γ-rays at 20 Kr would be most effective in creating genetic variability in the existing germplasm.


Subject(s)
Genes, Plant , Genetic Variation , Mutation , Oryza/genetics , Analysis of Variance , Breeding , Evolution, Molecular , Gamma Rays , Genetic Association Studies , Genotype , Inheritance Patterns , Microsatellite Repeats , Oryza/classification , Oryza/radiation effects , Phenotype , Phylogeny , Quantitative Trait, Heritable , Radiation Dosage
19.
Clin Exp Dermatol ; 40(7): 774-80, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25703744

ABSTRACT

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of abnormal melanin formation, which results in hypopigmentation of skin, hair and eyes. OCA is classified into four types based on clinical and genetic findings. OCA1 is the most severe form of albinism, and is caused by mutations in the tyrosinase (TYR) gene, while OCA4 is caused due to mutations in SLC45A2. METHODS: In total, 13 families with ≥ 3 members with OCA were enrolled. Family history was ascertained and pedigrees were drawn up. Blood samples were collected and processed for DNA extraction. Linkage analysis was performed by typing three short tandem repeat markers in candidate regions of TYR and SLC45A2. Sequence analysis was performed of all the coding exons and adjacent intronic sequences of both genes. RESULTS: Eight families showed linkage to OCA1 and one family showed linkage to OCA4. Four missense substitutions (p.Arg239Trp, p.Ser192Tyr, p.Ser44Arg and p.Arg77Gln) were identified in TYR in the families with OCA1 linkage, and another missense substitution (p.Gln272Lys) was identified in the family with OCA4 linkage. One of the identified missense substitution (p.Arg77Gln) in TYR was found in five different families, which had a common haplotype. CONCLUSIONS: We identified four missense substitutions in TYR and a single missense substitution in SLC45A2. One missense substitution (p.Arg77Gln) in TYR was found in five different families that originated from the same geographical area and displayed a common haplotype, suggesting a single origin that then spread to different geographical areas of Azad Kashmir, Pakistan.


Subject(s)
Albinism, Oculocutaneous/genetics , Antigens, Neoplasm/genetics , Asian People/genetics , Founder Effect , Membrane Transport Proteins/genetics , Monophenol Monooxygenase/genetics , Mutation, Missense , Adolescent , Adult , Child , Child, Preschool , DNA Mutational Analysis/methods , Female , Genetic Linkage , Humans , Male , Pakistan , Pedigree , Young Adult
20.
Indian J Pharm Sci ; 76(4): 364-70, 2014 Jul.
Article in English | MEDLINE | ID: mdl-25284935

ABSTRACT

This study was carried out as a prerequisite to evaluate the therapeutic potential of Camellia varieties. The crude extracts of six different plants of green tea Camellia assamica and Camellia sinensis were tested against three Gram-positive and four Gram-negative bacteria using agar disk diffusion method at 50 mg/ml concentration. 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid) and diphenyl-(2,4,6-trinitrophenyl)iminoazanium free radical scavenging methods were performed to evaluate the antioxidant potential. Phytochemical constituents and trace metals were detected through thin layer chromatography and Inductively Coupled Plasma Atomic Emission Spectrophotometer, respectively. The maximum inhibition of Staphylococcus aureus was recorded by dimethyl sulphoxide extracts of green tea varieties. The measured zone of inhibition of dimethyl sulphoxide extracts by Qimen was (10.00±0.0 mm), Japanese (10.00±0.0 mm), Turkish (10.00±0.0 mm), Indonesian (8.33±1.0 mm), P3 clone (10.00±0.0 mm) and Sri Lankan (10.00±0.0 mm). Maximum scavenging potential activity was found with ethanol, methanol and dimethyl sulphoxide extracts. Spot screening of TLC-developed plates indicated that the presence of active biological compounds such as flavonoids, proteins, phenols, alkaloids and glycosides also exhibited strong activity against tested bacterial strains. This study reveals the potential biological activities of Camellia assamica and Camellia sinensis having massive phytochemical constituents and trace elements.

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