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1.
Retina ; 42(6): 1038-1046, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35537111

RESUMO

PURPOSE: To evaluate the safety and therapeutic effects of orally administered AKST4290 (formerly BI 144807 and ALK4290) in treatment-naive patients with neovascular age-related macular degeneration. METHODS: In this prospective, multicenter, open-label Phase 2a pilot clinical study, 30 patients with newly diagnosed neovascular age-related macular degeneration self-administered AKST4290 (400 mg) orally twice daily for 6 weeks. Patients were examined weekly for safety, to measure best-corrected visual acuity (BCVA), and to perform exploratory morphologic assessments. The primary endpoint was the mean change in BCVA from baseline to end of treatment, and the secondary endpoint was safety. Exploratory endpoints investigated potential changes in macular morphology. RESULTS: Mean BCVA improved by +7.0 letters (95% CI, 2.2-11.7); 24 patients (82.8%) had stable or improved BCVA, with 6 (20.7%) gaining ≥15 letters. No patients experienced severe or serious adverse events. CONCLUSION: In this 6-week study, AKST4290 treatment was associated with improved BCVA scores in patients with treatment-naive neovascular age-related macular degeneration. All adverse events were mild or moderate in severity and no safety issues were identified. Treatment of neovascular age-related macular degeneration with AKST4290 warrants further investigation in randomized, placebo-controlled trials.


Assuntos
Degeneração Macular , Degeneração Macular Exsudativa , Inibidores da Angiogênese , Humanos , Injeções Intravítreas , Degeneração Macular/tratamento farmacológico , Estudos Prospectivos , Ranibizumab/uso terapêutico , Tomografia de Coerência Óptica , Resultado do Tratamento , Acuidade Visual , Degeneração Macular Exsudativa/induzido quimicamente , Degeneração Macular Exsudativa/diagnóstico , Degeneração Macular Exsudativa/tratamento farmacológico
2.
Molecules ; 27(7)2022 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-35408707

RESUMO

In the current study, Bismuth molybdate was synthesized using simple co-precipitation procedure, and their characterization was carried out by various methods such as FT-IR, SEM, and P-XRD. Furthermore, the photocatalytic degradation of Orange G (ORG) dye using synthesized catalyst under visible light irradiation was studied. Response surface Method was used for the optimization of process variables and degradation kinetics evaluated by modeling of experimental data. Based on the experimental design outcomes, the first-order model was proven as a practical correlation between selected factors and response. Further ANOVA analysis has revealed that only two out of six factors have a significant effect on ORG degradation, however ORG concentration and irradiation time indicated the significant effects sequentially. Maximum ORG degradation of approximately 96% was achieved by keeping process parameters in range, such as 1 g L-1 loading of catalyst, 50 mg L-1 concentration of ORG, 1.4 mol L-1 concentration of H2O2 at pH 7 and a temperature of 30 °C. Kinetics of ORG degradation followed the pseudo first order, and almost complete degradation was achieved within 8 h. The effectiveness of the Bi2MoO6/H2O2 photo-Fenton system in degradation reactions is due to the higher number of photo-generated e- available on the catalyst surface as a result of their ability to inhibit recombination of e- and h+ pair.


Assuntos
Bismuto , Peróxido de Hidrogênio , Compostos Azo , Bismuto/química , Catálise , Luz , Molibdênio , Espectroscopia de Infravermelho com Transformada de Fourier
3.
J Obstet Gynaecol ; 41(5): 726-732, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33073639

RESUMO

Preeclampsia (PE) remains a leading cause of maternal morbidity and mortality all over the world. However, its aetiology and pathophysiology remain elusive. Platelet activating factor (PAF) is produced in response to oxidative stress and is a potent hypotensive agent. PAF acetylhydrolase (PAF-AH) inactivates PAF and is seen to decrease in normotensive women. The role of PAF-AH in preeclampsia has been in investigational literature, so far. The few studies done have shown a positive association of elevated levels of PAF-AH with preeclampsia. However, this marker has not been studied in the Indian population to-date and such studies are needed to elucidate the pathogenesis of this condition. Our study aimed to determine the PAF-AH activity by spectrophotometric assay in maternal plasma of 73 PE patients versus 73 normotensive controls and plasma PAF-AH mRNA expression to know the aberration of PAF-AH activity at the genetic level. Relative mRNA expression was calculated by Δ DCT method and a fold change was calculated by 2-ΔDCT. We found that the mean plasma PAF-AH activity levels among cases was significantly higher than the normotensive controls. However, the mRNA expression of the PAF-AH gene was similar between the cases and controls, as well as between severe and non-severe preeclampsia (true fold change =1). To conclude, PAF-AH appears to be increased in women with preeclampsia and hence may contribute to pathophysiology and severity. However, a larger sample size will be required to reiterate this association. Recently, PAF-AH inhibitors such as Darapladib has been tested as a therapeutic option in atherosclerosis. After studying the role of PAF-AH in the pathogenesis of PE, PAF-AH inhibitors may be used as a therapeutic tool in the future in PE.IMPACT STATEMENTWhat is already known on this subject? Platelet activating factor (PAF) is produced in response to oxidative stress and is a potent hypotensive agent. PAF acetylhydrolase (PAF-AH) hydrolyses and inactivates PAF and is seen to decrease in normotensive women. The role of platelet activating factor-acetylhydrolase (PAF-AH) in preeclampsia has been investigational so far. Few studies done have shown a positive association of elevated levels of PAF-AH in preeclamptic women.What do the results of this study add? Our study aimed to determine the activity of PAF-AH in maternal plasma of PE patients versus normal pregnancy and plasma PAF-AH mRNA expression to know the aberration of PAF-AH activity at the level of the gene. We found that plasma PAF-AH activity among preeclamptics was significantly higher than in the controls with a possible role in early-onset preeclampsia (<32 weeks), in the Indian population. This marker has never been studied in this population earlier. The results of our study re-emphasised its role in the pathogenesis of preeclampsia.What are the implications of these findings for clinical practice and/or further research? Such studies are important to not only give us a greater understanding of the various pathways involved in this multifactorial dreaded condition, but can also offer us a marker for early identification of women at risk. Recently, PAF-AH inhibitors like Darapladib has been tested as a therapeutic option in atherosclerosis. After studying the role of PAF-AH in the pathogenesis of PE, PAF-AH inhibitors may be used as a therapeutic tool in the future in PE.


Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase/sangue , Fator de Ativação de Plaquetas/análise , Pré-Eclâmpsia/sangue , RNA Mensageiro/sangue , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Humanos , Estresse Oxidativo/genética , Pré-Eclâmpsia/genética , Gravidez
4.
Indian J Plast Surg ; 54(4): 456-462, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34984085

RESUMO

Follicular unit extraction (FUE), now named as follicular unit excision, is one of the methods of harvesting hair follicles from the donor area for implanting in the recipient area. The occipital scalp area is the most common donor area, but nonscalp donor areas like beard, chest, and other hairy body parts can be used as donor hair follicle area. The extraction of the hair follicle leaves a tiny circular scar over the donor area. Over the past 20 years, various devices for FUE have been developed, starting from manual, simple motorized to highly advanced motors with rotation, oscillation, and vibration. Similarly, different types of punch are used: dull, sharp, ultrasharp, serrated, hybrid and specially designed punch blade for long hair follicles harvesting in various diameters from 0.7 mm to 1.1 mm. The follicles can be harvested either by manual method or by motorized method.

5.
Indian J Plast Surg ; 54(4): 477-482, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34984088

RESUMO

Hair transplant surgery per se has low risk, is relatively safe, and has minimum incidence of complications. However, it is a well-accepted fact that no medical science procedure exists without any potential risk of complications. The complication may be a single complaint in the form of pain, itching, dissatisfaction related to the procedure's outcome, or surgical complication in the form of infection, wound dehiscence or skin necrosis. Inadequate counselling increases unsatisfaction. Improper examination increases the complications, and incomplete medical history and history of allergy increases the risk during surgery. The author collected data of his 2896 patients, operated over a period of 10 years, and recorded the complains and complications. The most common complications were sterile folliculitis, noted in 203 patients, vasovagal shock in seven patients of, hypertensive crisis in one patient, hiccups in six patients, facial edema after hair transplant in 18 patients, graft dislodgement in 8 patients, infection in two diabetic patients, minor necrotic patches in recipient area in three patients, keloid development in one patient, numbness in 18 cases, and hypersensitivity in recipient and/or donor area. Donor area effluvium was seen in one case and three patients showed recipient area effluvium. Twenty-six patients were not happy with the results, and five cases showed partial loss of implanted hair. The overall significant life-threatening or major complications were zero, but the total minor complications' percentage was 0.10%. The key to minimize complaints and complications are detailed counselling, taking careful medical history and history of allergy, and proper examination of patients.

6.
Behav Sleep Med ; 18(2): 226-240, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30588849

RESUMO

Objective: This study investigated whether light delivered through the eyelids of sleeping persons might create phase delay in older adults who are adversely affected by advanced sleep phase disorder. Participants: Thirty-two cognitively intact, community-dwelling participants aged ≥ 50 years (20 females, 12 males) with Pittsburgh Sleep Quality Index scores ≥ 5 (poor sleep) completed the study. Methods: This within-subjects, randomized, two-treatment crossover design study exposed participants to an active "blue" (λmax  =  480 nm) lighting intervention or a placebo "red" (λmax = 640 nm) control through closed eyelids during sleep for 8 weeks. Conditions were administered 1 hr after bedtime using custom-built light masks delivering a train of 2-s duration light pulses presented every 30 s for ≤ 2 hr (approximately 240 pulses/night). Dependent variables were subjective measures of sleep and depression (questionnaires) and objective measures of sleep (wrist actigraphy), analyzed using linear mixed models with treatment, period, and carryover as fixed effects. Results: The actigraphy analysis found no effect of the intervention or the control condition on sleep start time, total sleep time, number of sleep bouts, or sleep efficiency, either compared to baseline or to one another. Subjective responses of study participants, however, indicated statistically significant (p < 0.05) improvement in seven of eight reported measures of sleep quality with both the intervention and the control condition, but no difference between the two conditions. Conclusions: The participants reported improvement in sleep quality, but the intervention did not confer additional advantages after adjusting for period and carryover effects.


Assuntos
Máscaras/tendências , Fototerapia/métodos , Transtornos do Sono-Vigília/terapia , Estudos Cross-Over , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
7.
Telemed J E Health ; 26(4): 565-568, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32209019

RESUMO

Background: As the leading cause of vision loss in the United States, age-related macular degeneration (AMD) would seem to be amenable to interventions that increase access to screening and management services for patients. AMD poses several unique challenges for telemedicine, however. The disease lacks clinical consensus on the effectiveness and cost-effectiveness of screening the general population, and more complex imaging modalities may be required than for what has traditionally been used for diabetic retinopathy telehealth systems. Methods: The current literature was reviewed to find clinical trials and expert consensus documents on the state-of-the-art of telemedicine for AMD. Results: A range of feasibility studies have reported success with telemedicine strategies for AMD. Several investigators have reported experience with AMD screening and remote-monitoring systems as well as artificial intelligence applications. Conclusions: There are currently no large-scale telemedicine programs for either screening or managing AMD, but new approaches to screening and managing the condition may allow for expansion of high-quality convenient care for an increasing patient population.


Assuntos
Retinopatia Diabética , Degeneração Macular , Telemedicina , Inteligência Artificial , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/terapia , Programas de Rastreamento , Estados Unidos
8.
Telemed J E Health ; 26(4): 495-543, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32209018

RESUMO

Contributors The following document and appendices represent the third edition of the Practice Guidelines for Ocular Telehealth-Diabetic Retinopathy. These guidelines were developed by the Diabetic Retinopathy Telehealth Practice Guidelines Working Group. This working group consisted of a large number of subject matter experts in clinical applications for telehealth in ophthalmology. The editorial committee consisted of Mark B. Horton, OD, MD, who served as working group chair and Christopher J. Brady, MD, MHS, and Jerry Cavallerano, OD, PhD, who served as cochairs. The writing committees were separated into seven different categories. They are as follows: 1.Clinical/operational: Jerry Cavallerano, OD, PhD (Chair), Gail Barker, PhD, MBA, Christopher J. Brady, MD, MHS, Yao Liu, MD, MS, Siddarth Rathi, MD, MBA, Veeral Sheth, MD, MBA, Paolo Silva, MD, and Ingrid Zimmer-Galler, MD. 2.Equipment: Veeral Sheth, MD (Chair), Mark B. Horton, OD, MD, Siddarth Rathi, MD, MBA, Paolo Silva, MD, and Kristen Stebbins, MSPH. 3.Quality assurance: Mark B. Horton, OD, MD (Chair), Seema Garg, MD, PhD, Yao Liu, MD, MS, and Ingrid Zimmer-Galler, MD. 4.Glaucoma: Yao Liu, MD, MS (Chair) and Siddarth Rathi, MD, MBA. 5.Retinopathy of prematurity: Christopher J. Brady, MD, MHS (Chair) and Ingrid Zimmer-Galler, MD. 6.Age-related macular degeneration: Christopher J. Brady, MD, MHS (Chair) and Ingrid Zimmer-Galler, MD. 7.Autonomous and computer assisted detection, classification and diagnosis of diabetic retinopathy: Michael Abramoff, MD, PhD (Chair), Michael F. Chiang, MD, and Paolo Silva, MD.


Assuntos
Diabetes Mellitus , Retinopatia Diabética , Glaucoma , Degeneração Macular , Oftalmologia , Telemedicina , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/terapia , Humanos , Recém-Nascido
9.
J Nanosci Nanotechnol ; 19(1): 280-294, 2019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30327038

RESUMO

In the recent past, bismuth oxyhalides (BiOX) have been widely used for the photocatalytic degradation of the organic pollutants and other environmental remediation because of their higher stability, economic viability, nontoxicity and effective charge separation. We begin with the review of the different approaches adopted so far for BiOX (X = Cl, Br, and I) synthesis and a study of their photocatalytic performances under UV and visible light towards the various organic as well as inorganic pollutants. Later on, a study on further enhancement of the efficiency of BiOX under UV and visible light irradiation using recent advancements would be presented. The new approaches involve controlled morphology by forming composite and hybrid materials with other semiconductors and also doping with other metals and nonmetals that would undoubtedly be beneficial in the interfacial charge transfer and efficient inhibition of the photo-generated species. Herein, we would also exploit the recent developments in the research strategies for enhancing photocatalytic activity of BiOX.

10.
N C Med J ; 80(2): 76-82, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30877152

RESUMO

BACKGROUND There is limited information available in North Carolina on the current burden of, and racial disparities in, diabetic retinopathy (DR), a major complication associated with diabetes mellitus (DM). This study aims to describe the overall trend of, and racial/ethnic disparities in, DR among adults with DM in North Carolina.METHODS Data were from 13 waves (2000, 2002-2010, 2012, 2013, and 2015) of the Behavioral Risk Factor Surveillance System. The study sample included 16,976 adults aged ≥ 40 years with DM in North Carolina. DR was identified by self-report by the question, "Has a doctor ever told you that diabetes has affected your eyes or that you had retinopathy?" The overall prevalence of DR was assessed during the time period, and was compared between whites and blacks. All analyses were conducted using Stata 13.0.RESULTS The prevalence of self-reported DR in North Carolina decreased from 27.2% in 2000 to 18.3% in 2015, a reduction of 33% (Trend P = .003). The age-adjusted DR prevalence in whites decreased from 21.7% to 17.6% (Trend P = .04), and in blacks from 39.4% to 20.2% (Trend P = .002). The declining rates in DR were not statistically different between whites and blacks (P = .06). Blacks were more likely to report DR (adjusted odds ratio = 1.20, 95% confidence interval, 1.03-1.40) during 2000-2015.CONCLUSION The prevalence of self-reported DR in adults with DM declined significantly in North Carolina in the past 15 years. While racial differences in some years appeared to be decreasing, the black-white disparity in DR prevalence during the entire period persisted. Focused efforts on reducing the gap are needed.


Assuntos
Negro ou Afro-Americano/estatística & dados numéricos , Diabetes Mellitus/etnologia , Retinopatia Diabética/etnologia , Disparidades nos Níveis de Saúde , População Branca/estatística & dados numéricos , Adulto , Diabetes Mellitus/diagnóstico , Humanos , North Carolina/epidemiologia , Prevalência , Autorrelato
11.
Indian J Plast Surg ; 52(2): 209-215, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31602137

RESUMO

Background There is a time lag between hair follicle harvesting and implantation, during this time hair follicles suffer ischemic injury. We need a holding medium or a solution to minimize or neutralize ischemic injury. Aims and Objective To evaluate plasma as a graft holding solution in terms of its efficacy in hair growth and hair graft survival. Method and Material A split scalp study was performed. The left side was designated as the control area (Group A) where grafts implanted were kept in Ringer's lactate, and the right side behaved as the test area (Group B) and received grafts preserved in autologous plasma. The p -value was calculated. Observations MTT staining for grafts stored in Ringer's lactate at 12 and 72 hours showed poor hair follicle cells' survival while grafts kept in plasma showed viable cells even after 72 hours. The hair count and density in plasma group were significantly higher than those in the Ringer's lactate group. There was an improvement in hair thickness in both groups from 6 months to 12 months. Conclusion Autologous plasma is an easily available graft holding solution. Platelets along with the plasma provide multiple growth factors promoting epithelialization, neovascularization, and action on hair follicle stem cells to improve growth. The fibrin coating around the graft makes it sticky and prevents dehydration. The split scalp controlled study certainly shows the advantages of using plasma over other extra cellular graft holding solutions.

12.
Int J Gynecol Cancer ; 28(6): 1239-1246, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29727353

RESUMO

BACKGROUND: Ovarian cancer is associated with a high relapse rate and is the fifth leading cause of cancer deaths in women. The genetic profile of a tumor is responsible for deciding response to chemotherapeutic agents. In this study, we investigate the relation between survivin and p53 expression and response to chemotherapeutic agents of primary cultures of ovarian cancer cells established from ascitic fluid. MATERIALS AND METHOD: Ascitic fluid and Dulbecco's modified Eagle medium was mixed in equal proportion in culture flasks and incubated to establish primary culture. The cells were treated with different combinations of carboplatin and paclitaxel with and without survivin small interfering RNA transfection. Cell survival was estimated by MTT assay. Survivin and p53 expression was quantified by real-time polymerase chain reaction. RESULTS: Out of 19 ascitic fluid samples, 13 primary cultures of ovarian cancer cells were established. The half maximal inhibitory concentration doses of carboplatin (≥70 µg/mL) and paclitaxel (≥18 µg/mL) were high for 10/13 and 5/13 patients, respectively. Survivin messenger RNA expression was significantly downregulated on treatment with carboplatin (100 µg/mL), paclitaxel (12.5 µg/mL), and a combination of carboplatin (50 µg/mL) and paclitaxel (6.25 µg/mL). Only paclitaxel-treated ovarian cancer cells showed decrease in expression of p53. Survivin small interfering RNA increased sensitivity of the primary cultures to chemotherapeutic agents. CONCLUSIONS: The present study highlights the fact that establishing primary cultures from ascitic fluid may help to develop personalized treatment regime for individual patients based on their molecular profile. Our study also shows that supplementing taxols drugs with survivin inhibitors may prove to be beneficial in the treatment of ovarian cancer patients.


Assuntos
Carboplatina/farmacologia , Carcinoma Epitelial do Ovário/tratamento farmacológico , Carcinoma Epitelial do Ovário/metabolismo , Paclitaxel/farmacologia , Survivina/biossíntese , Proteína Supressora de Tumor p53/biossíntese , Antineoplásicos/farmacologia , Antineoplásicos Fitogênicos/farmacologia , Carcinoma Epitelial do Ovário/genética , Ensaios de Seleção de Medicamentos Antitumorais , Feminino , Técnicas de Silenciamento de Genes , Humanos , Cultura Primária de Células , Survivina/genética , Células Tumorais Cultivadas
13.
Ecotoxicol Environ Saf ; 165: 357-366, 2018 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-30216894

RESUMO

The inducement of plant leaf extracts for the synthesis of various nanostructures has intrigued researchers across the earth to explore the mechanisms of biologically active compounds present in the plants. Herein, a green modified hydrolysis route has been employed for the synthesis of bismuth oxychloride i.e. BiOCl-N, BiOCl-T and BiOCl-A using plant extracts of Azadirachta indica (Neem), Ocimum sanctum (Tulsi), and Saraca indica (Ashoka), and; simultaneously, without plant extract (BiOCl-C), respectively. The as-prepared samples were examined by several microscopic and spectroscopic techniques which revealed that the biosynthesized BiOCl attained certain favorable features such as hierarchical nano-flower morphology, higher porosity, higher specific surface area and narrower band gap compared to BiOCl-C. The degradation of methyl orange (MO) and bisphenol A (BPA) using biosynthesized BiOCl were improved by 21.5% within 90 min and 18.2% within 600 min under visible light irradiation, respectively. The photocurrent response, electrochemical impedance spectroscopy (EIS) and photoluminescence (PL) studies indicated the effective inhibition of the electron-hole pair recombination and enhanced photocatalytic activity of the biosynthesized BiOCl.


Assuntos
Bismuto/química , Extratos Vegetais/química , Folhas de Planta/metabolismo , Azadirachta , Compostos Azo/química , Compostos Benzidrílicos/química , Catálise , Recuperação e Remediação Ambiental , Fabaceae , Nanoestruturas/química , Ocimum sanctum , Fenóis/química , Processos Fotoquímicos
14.
N C Med J ; 78(2): 121-123, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28420776

RESUMO

Diabetic retinopathy is a leading cause of preventable blindness. Timely screening and treatment prevent morbidity, though low follow-up rates remain problematic. Feasible and efficacious methods for increasing screening follow-up rates include patient education, a streamlined referral and scheduling process, and collaboration with local ophthalmologists and primary care providers.


Assuntos
Continuidade da Assistência ao Paciente , Retinopatia Diabética/diagnóstico , Programas de Rastreamento , Disparidades em Assistência à Saúde , Humanos , Educação de Pacientes como Assunto , Guias de Prática Clínica como Assunto
15.
Indian J Plast Surg ; 50(3): 230-235, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29618856

RESUMO

BACKGROUND: There is a global increase in demand for hair transplant as well as increasing demand for trained assistants and surgeons. It is a fact that permanent donor hair follicles are limited and any loss during learning is permanent and irreversible, so there is no place to learn and/or practice on a patient. OBJECTIVE: To develop a learning module in hair restoration surgery to learn all steps of strip method of hair follicles harvesting and methods of implantation. MATERIALS AND METHODS: In this learning module, the materials used are paper, pencil, plant leaf, foam and thread. The last step is on goat skin. Module has been divided into multiple steps. The first step is training of microsurgery position, the second step is training of movement at wrist using paper and pencil, the third step is strip harvesting and slivering on foam model, the fourth step is learning of follicle dissection on leaf model, the fifth step is thread follicle implantation on leaf bed. After practising on non-living model finally, all steps are practised on goatskin, starting from slivering, follicle dissection and implantation of goat follicles on leaf. CONCLUSION: This is very economical and user-friendly system to learn all steps of strip method of hair follicle harvesting and methods of implantation as well. The materials used are available around us and anyone can learn as well as train his or her technicians in very short time.

16.
Genet Med ; 17(4): 245-52, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25790163

RESUMO

Inherited eye disorders are a significant cause of vision loss. Genetic testing can be particularly helpful for patients with inherited retinal dystrophies because of genetic heterogeneity and overlapping phenotypes. The need to identify a molecular diagnosis for retinal dystrophies is particularly important in the era of developing novel gene therapy-based treatments, such as the RPE65 gene-based clinical trials and others on the horizon, as well as recent advances in reproductive options. The introduction of massively parallel sequencing technologies has significantly advanced the identification of novel gene candidates and has expanded the landscape of genetic testing. In a relatively short time clinical medicine has progressed from limited testing options to a plethora of choices ranging from single-gene testing to whole-exome sequencing. This article outlines currently available genetic testing and factors to consider when selecting appropriate testing for patients with inherited retinal dystrophies.


Assuntos
Testes Genéticos , Patologia Molecular , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Heterogeneidade Genética , Terapia Genética , Humanos , Fenótipo , Distrofias Retinianas/terapia , cis-trans-Isomerases/genética , cis-trans-Isomerases/uso terapêutico
17.
Indian J Med Res ; 141(1): 107-14, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25857502

RESUMO

BACKGROUND & OBJECTIVES: Lipoprotein associated phospholipase A 2 (Lp-PLA 2 ) is an important risk predictor of coronary artery disease (CAD). This study was aimed to evaluate Lp-PLA 2 activity and oxidized low density lipoprotein (oxLDL) in newly diagnosed patients of type 2 diabetes mellitus and to determine the correlation of Lp-PLA 2 activity with oxLDL and plasma glucose levels. METHODS: Blood samples were collected in patients with newly diagnosed type 2 diabetes (n=40) before any treatment was started and healthy controls (n=40). These were processed for estimating plasma glucose: fasting and post prandial, ox LDL, and Lp-PLA2 activity. The parameters in the two groups were compared. Correlation between different parameters was calculated by Pearson correlation analysis in both groups. RESULTS: Lp-PLA 2 activity (24.48 ± 4.91 vs 18.63 ± 5.29 nmol/min/ml, P<0.001) and oxLDL levels (52.46 ± 40.19 vs 33.26 ± 12.54 µmol/l, P<0.01) were significantly higher in patients as compared to those in controls. Lp-PLA 2 activity correlated positively with oxLDL in both controls (r=0.414, P<0.01), as well in patients (r=0.542, P<0.01). A positive correlation between Lp-PLA 2 activity and fasting plasma glucose levels was observed only in patients (r=0.348, P<0.05). INTERPRETATION & CONCLUSIONS: Result of this study implies that higher risk of CAD in patients with diabetes may be due to increase in Lp-PLA 2 activity during the early course of the disease. A positive correlation between enzyme activity and fasting plasma glucose indicates an association between hyperglycaemia and increased activity of Lp-PLA2. This may explain a higher occurrence of CAD in patients with diabetes. A positive correlation between oxLDL and Lp-PLA2 activity suggests that Lp-PLA2 activity may be affected by oxLDL also.


Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase/metabolismo , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/metabolismo , Lipoproteínas LDL/metabolismo , Adulto , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
18.
Retina ; 34(2): 394-401, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23842102

RESUMO

PURPOSE: To determine normal retinal oxygen saturation (SO2) values measured with retinal oximetry in a multiethnic group of healthy subjects and to evaluate the association of retinal SO2 with demographic and clinical parameters. METHODS: Retinal oximetry was performed in both eyes of 61 normal healthy subjects. Global and quadrant venous (SvO2) and arterial oxygen saturation (SaO2), arteriovenous difference in SO2, and venular and arteriolar width were measured. The association of SO2 parameters with age, gender, ethnicity, refraction, iris color, history of controlled systemic hypertension, and smoking was analyzed. RESULTS: Average SvO2 and SaO2 were 55.3 ± 7.1% and 90.4 ± 4.3%, respectively. All average measurements were comparable in both eyes, both genders, and among ethnic groups. Inferonasal quadrant SaO2 was higher in Asians. Age was associated with decreased SvO2 (ß = -0.19; P = 0.001) and SaO2 (ß = -0.11; P = 0.003). History of controlled systemic hypertension was associated with an increase in arteriovenous difference in SO2 (ß = 3.99; P = 0.013). CONCLUSION: This is the first description of retinal SO2 in healthy, multiethnic subjects. Aging decreases SvO2 and SaO2 and should be accounted for when interpreting retinal oximetry measurements. Other demographic and clinical parameters studied did not seem to significantly influence retinal SO2 measurements.


Assuntos
Oxigênio/sangue , Artéria Retiniana/fisiologia , Veia Retiniana/fisiologia , Adulto , Idoso , Envelhecimento/fisiologia , Pressão Sanguínea/fisiologia , Feminino , Voluntários Saudáveis , Humanos , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Oximetria/métodos , Consumo de Oxigênio , Valores de Referência , Adulto Jovem
19.
Cureus ; 16(2): e54578, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38523934

RESUMO

Celiac disease (CD) is an immune-mediated enteropathy, caused by hypersensitivity to gluten in genetically predisposed individuals. The worldwide prevalence of CD has been estimated to be approximately 1%. Most guidelines for diagnosis of CD rely on a sequential approach, with serological testing of antibodies against tissue transglutaminase (tTG) as a first-line test, followed by a duodenal biopsy. However, GI biopsy is an invasive procedure with various complications. Hence, this study was planned to ascertain whether it could be possible to have a non-biopsy approach, using only serological markers to establish the diagnosis of CD in adults. MATERIAL AND METHODS: It was a retrospective analysis of medical records of all biopsy-diagnosed CD patients with available anti-tTGA antibodies reports from 2019 to 2023. The patients were divided into three groups based on Marsh grading and anti-tTGA antibody levels were compared using various statistical tests. RESULTS: A total of 94 biopsy-diagnosed symptomatic CD patients with anti-tTGA antibody reports available formed the study group. Of these, 54 had biopsy findings consistent with Marsh 3 lesion, three had Marsh 2 lesion, and 37 had Marsh 1 lesion. A significant correlation existed between Marsh grading 3 lesion and anti-tTGA antibody levels above the upper limit of normal (ULN) x 10. CONCLUSION: Serum levels of anti-tTGA antibodies greater than 10 x ULN can be used to identify symptomatic patients with Marsh grade 3 CD lesions.

20.
AAPS PharmSciTech ; 14(3): 1219-26, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23934434

RESUMO

Targeting drug formulations to specific tissues and releasing the bioactive content in response to a certain stimuli remains a significant challenge in the field of biomedical science. We have developed a nanovehicle that can be used to deliver "drugs" to "specific" tissues. For this, we have simultaneously modified the surface of the nanovehicle with "drugs" and "tissue-specific ligands". The "tissue-specific ligands" will target the nanovehicle to the correct tissue and release the "drug" of interest in response to specific stimuli. We have synthesised a "lactose surface-modified gold nanovehicle" to target liver cells and release the model fluorescent drug (coumarin derivative) in response to the differential glutathione concentration (between blood plasma and liver cells). Lactose is used as the liver-specific targeting ligand given the abundance of L-galactose receptors in hepatic cells. The coumarin derivative is used as a fluorescent tag as well as a linker for the attachment of various biologically relevant molecules. The model delivery system is compatible with a host of different ligands and hence could be used to target other tissues as well in future. The synthesised nanovehicle was found to be non-toxic to cultured human cell lines even at elevated non-physiological concentrations as high as 100 µg/mL. We discover that the synthesised gold-based nanovehicle shows considerable stability at low extracellular glutathione concentrations; however coumarin is selectively released at high hepatic glutathione concentration.


Assuntos
Portadores de Fármacos , Ouro/química , Fígado/metabolismo , Nanopartículas Metálicas/química , Corantes Fluorescentes/química , Glutationa/química , Espectroscopia de Infravermelho com Transformada de Fourier
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