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1.
Cryo Letters ; 40(1): 28-35, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30955028

RESUMO

BACKGROUND: Clitoria ternatea is a brain revitalizing legume, with immense pharmacological value including antimicrobial, antioxidant and anticancer. The lack of a commercial cultivation has led to its' over collection from the wild to meet the demand of herbal pharmaceutical sector and the species is now rare in the wild. Hence, the plant needs to be conserved. Cryopreservation of the species would supplement the conventional conservation strategies in the field or seed bank. OBJECTIVE: The objective of the study was to evolve an efficient and simple protocol for the cryopreservation of Clitoria ternatea using an encapsulation-dehydration technique. MATERIALS AND METHODS: An in vitro culture system via axillary shoot proliferation was developed using nodal segments in MS medium and optimization of the levels of cytokinins and auxins. Calcium alginate encapsulated axillary buds were subjected to 0-5 h of dehydration, to determine the optimum drying time and moisture content for effective cryopreservation. RESULTS: The beads dehydrated for 4 h to 20.1 % moisture content had 60 % survival after freezing in LN, of which 65 % regrew. Based on RAPD analysis, the plants regrowing after cryostorage were genetically stable. CONCLUSION: A simple and efficient cryopreservation protocol has been established for C. ternatea using an encapsulation-dehydration technique, and this could be effectively utilized for germplasm conservation of this species.


Assuntos
Clitoria , Criopreservação , Brotos de Planta , Dessecação , Congelamento , Técnica de Amplificação ao Acaso de DNA Polimórfico
2.
Blood Cells Mol Dis ; 54(1): 4-8, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25457385

RESUMO

India along with Nigeria and DRC contribute to 57% of the world sickle cell anemia population. The annual number of newborns in India with SCA was estimated at 44,000 in 2010. Even with this high prevalence there is minimal information about genetic factors that influence the disease course in Indian patients. The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine the association of genetic variants at the BCL11A (rs1427407) and HBS1-MYB (rs6934903) loci with fetal hemoglobin levels (HbF). Both these loci have been implicated with influencing HbF levels, a powerful modulator of the clinical and hematologic features of SCD. Our results indicate the BCL11A rs1427407 G>T variant to be significantly associated with HbF levels {19.12±6.61 (GG), 20.27±6.92 (GT) and 24.83±2.92 (TT) respectively} contributing to ~23% of the trait variance. Interestingly no association of the HBS1L-MYB rs6934903 with the HbF levels was seen. The present study indicates the BCL11A (rs1427407) but not HMIP (rs6934903) to be associated with elevated HbF levels in Indian patient. Further interrogation of additional variants at both the loci; as also a GWAS which may help uncover new loci controlling HbF levels.


Assuntos
Proteínas de Transporte/genética , Hemoglobina Fetal/metabolismo , Variação Genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas Nucleares/genética , Proteínas Oncogênicas v-myb/genética , Traço Falciforme , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Índia , Masculino , Proteínas Repressoras , Traço Falciforme/sangue , Traço Falciforme/genética
3.
Indian J Med Res ; 140(6): 766-9, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25758575

RESUMO

BACKGROUND & OBJECTIVES: Meningitis caused by Neisseria meningitidis is a fatal disease. Meningococcal meningitis is an endemic disease in Delhi and irregular pattern of outbreaks has been reported in India. All these outbreaks were associated with serogroup A. Detailed molecular characterization of N. meningitidis is required for the management of this fatal disease. In this study, we characterized antigenic diversity of surface exposed outer membrane protein (OMP) FetA antigen of N. meningitidis serogroup A isolates obtained from cases of invasive meningococcal meningitis in Delhi, India. METHODS: Eight isolates of N. meningitidis were collected from cerebrospinal fluid during October 2008 to May 2011 from occasional cases of meningococcal meningitis. Seven isolates were from outbreaks of meningococcal meningitis in 2005-2006 in Delhi and its adjoining areas. These were subjected to molecular typing of fetA gene, an outer membrane protein gene. RESULTS: All 15 N. meningitides isolates studied were serogroup A. This surface exposed porin is putatively under immune pressure. Hence as a part of molecular characterization, genotyping was carried out to find out the diversity in outer membrane protein (FetA) gene among the circulating isolates of N. meningitidis. All 15 isolates proved to be of the same existing allele type of FetA variable region (VR) when matched with global database. The allele found was F3-1 for all the isolates. INTERPRETATION & CONCLUSIONS: There was no diversity reported in the outer membrane protein FetA in the present study and hence this protein appeared to be a stable molecule. More studies on molecular characterization of FetA antigen are required from different serogroups circulating in different parts of the world.


Assuntos
Antígenos/genética , Proteínas da Membrana Bacteriana Externa/genética , Meningite/genética , Neisseria meningitidis/genética , Alelos , Antígenos/imunologia , Proteínas da Membrana Bacteriana Externa/líquido cefalorraquidiano , Genótipo , Humanos , Índia , Meningite/líquido cefalorraquidiano , Meningite/microbiologia , Meningite/patologia , Neisseria meningitidis/patogenicidade , Análise de Sequência de DNA
4.
Int J Tuberc Lung Dis ; 28(3): 122-139, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38454186

RESUMO

BACKGROUNDAlthough screening of household contacts (HHCs) of TB patients and provision of TB preventive therapy (TPT) is a key intervention to end the TB epidemic, their implementation globally is dismal. We assessed whether introducing a '7-1-7' timeliness metric was workable for implementing HHC screening among index patients with pulmonary TB diagnosed by private providers in Chennai, India, between November 2022 and March 2023.METHODSThis was an explanatory mixed-methods study (quantitative-cohort and qualitative-descriptive).RESULTSThere were 263 index patients with 556 HHCs. In 90% of index patients, HHCs were line-listed within 7 days of anti-TB treatment initiation. Screening outcomes were ascertained in 48% of HHCs within 1 day of line-listing. Start of anti-TB treatment, TPT or a decision to receive neither was achieved in 57% of HHC within 7 days of screening. Overall, 24% of screened HHCs in the '7-1-7' period started TPT compared with 16% in a historical control (P < 0.01). Barriers to achieving '7-1-7' included HHC reluctance for evaluation or TPT, refusal of private providers to prescribe TPT and reliance on facility-based screening of HHCs instead of home visits by health workers for screening.CONCLUSIONSIntroduction of a timeliness metric is a workable intervention that adds structure to HHC screening and timely management..


Assuntos
Busca de Comunicante , Tuberculose Pulmonar , Humanos , Setor Privado , Índia/epidemiologia , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/epidemiologia , Tuberculose Pulmonar/prevenção & controle , Programas de Rastreamento/métodos
5.
IJTLD Open ; 1(1): 41-49, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38919414

RESUMO

BACKGROUND: The study assessed whether a "7-1-7" timeliness metric for screening and TB preventive therapy (TPT) could be implemented for household contacts (HHCs) of index patients with bacteriologically confirmed pulmonary TB under routine programmatic settings in Kenya. METHODS: A longitudinal cohort study conducted among index patients and their HHCs in 12 health facilities, Kiambu County, Kenya. RESULTS: Between January and June 2023, 95% of 508 index patients had their HHCs line-listed within 7 days of initiating anti-TB treatment ("First 7"). In 68% of 1,115 HHCs, screening outcomes were ascertained within 1 day of line-listing ("Next 1"). In 65% of 1,105 HHCs eligible for further evaluation, anti-TB treatment, TPT or a decision for no drugs was made within 7 days of screening ("Second 7"). Altogether, 62% of screened HHCs started TPT during the "7-1-7" period compared with 58% in a historical cohort. Main barriers to TPT uptake were HHCs not consulting clinicians, HHCs being unwilling to initiate TPT and drug shortages. Healthcare workers felt that a timeliness metric was valuable for streamlining HHC management and proposed "3-5-7" as a workable alternative. CONCLUSIONS: The national TB programme must generate awareness about TPT, ensure uninterrupted drug supplies and assess whether the "3-5-7" metric can be operationalised.


CONTEXTE: L'étude a évalué si une mesure de rapidité "7-1-7" pour le dépistage et le traitement préventif de la TB (TPT) pouvait être mise en œuvre pour les contacts familiaux des patients index atteints de TB pulmonaire confirmée bactériologiquement dans le cadre d'un programme de routine au Kenya. MÉTHODES: Étude de cohorte longitudinale menée auprès de patients index et de leurs contacts familiaux dans 12 établissements de santé du comté de Kiambu, au Kenya. RÉSULTATS: Entre janvier et juin 2023, 95% des 508 patients index ont eu leur centre de santé inscrit sur la liste dans les 7 jours suivant le début du traitement antituberculeux (« First 7 ¼ ). Dans 68% des 1 115 centres de santé, les résultats du dépistage ont été vérifiés dans le jour suivant l'inscription sur la liste (« Next 1 ¼). Dans 65% des 1 105 centres de santé éligibles pour une évaluation plus approfondie, le traitement antituberculeux, le TPT ou la décision de ne pas prendre de médicaments a été prise dans les 7 jours suivant le dépistage (« Second 7 ¼). Au total, 62% des patients dépistés ont commencé un traitement antituberculeux au cours de la période « 7-1-7 ¼, contre 58% dans une cohorte historique. Les principaux obstacles à l'adoption du TPT étaient les suivants : les centres de santé ne consultaient pas les cliniciens, les centres de santé n'étaient pas disposés à commencer le TPT et les pénuries de médicaments. Les professionnels de la santé ont estimé qu'une mesure de la rapidité d'exécution était utile pour rationaliser la gestion des centres de santé et ont proposé le « 3-5-7 ¼ comme solution de rechange viable. CONCLUSION: Le programme national de lutte contre la TB doit sensibiliser au TPT, garantir un approvisionnement ininterrompu en médicaments et évaluer si la mesure « 3-5-7 ¼ peut être mise en œuvre.

6.
IJTLD Open ; 1(5): 197-205, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-39022778

RESUMO

BACKGROUND: We examined the feasibility of assessing and referring adults successfully completing TB treatment for comorbidities, risk determinants and disability in health facilities in Kenya, Uganda, Zambia and Zimbabwe. METHODS: This was a cross-sectional study within national TB programmes. RESULTS: Health workers assessed 1,063 patients (78% of eligible) in a median of 22 min [IQR 16-35] and found it useful and feasible to accomplish in addition to other responsibilities. For comorbidities, 476 (44%) had HIV co-infection, 172 (16%) had high blood pressure (newly detected in 124), 43 (4%) had mental health disorders (newly detected in 33) and 36 (3%) had diabetes mellitus. The most common risk determinants were 'probable alcohol dependence' (15%) and malnutrition (14%). Disability, defined as walking <400 m in 6 min, was found in 151/882 (17%). Overall, 763 (72%) patients had at least one comorbidity, risk determinant and/or disability. At least two-thirds of eligible patients were referred for care, although 80% of those with disability needed referral outside their original health facility. CONCLUSIONS: Seven in 10 patients completing TB treatment had at least one comorbidity, risk determinant and/or disability. This emphasises the need for offering early patient-centred care, including pulmonary rehabilitation, to improve quality of life, reduce TB recurrence and increase long-term survival.


CONTEXTE: Nous avons examiné la faisabilité d'évaluer et de référer les adultes ayant terminé avec succès le traitement de la TB pour les comorbidités, les déterminants de risque et l'invalidité dans les établissements de santé au Kenya, en Ouganda, en Zambie et au Zimbabwe. MÉTHODES: Il s'agissait d'une étude transversale menée dans le cadre des programmes nationaux de lutte contre la TB. RÉSULTATS: Les agents de santé ont évalué 1 063 patients (78% des personnes éligibles) en médiane de 22 min (IQR 16­35) et ont jugé utile et réalisable d'accomplir cette tâche en plus de leurs autres responsabilités. Pour les comorbidités, 476 (44%) étaient co-infectés par le VIH, 172 (16%) souffraient d'hypertension artérielle (dont 124 nouvellement diagnostiqués), 43 (4%) présentaient des troubles de santé mentale (dont 33 nouvellement diagnostiqués) et 36 (3%) étaient diabétiques. Les déterminants de risque les plus courants étaient une « dépendance probable à l'alcool ¼ (15%) et la malnutrition (14%). L'invalidité, définie comme une marche <400 m en 6 min, a été observée chez 151/882 (17%) des patients. Dans l'ensemble, 763 (72%) des patients présentaient au moins une comorbidité, un déterminant de risque et/ou une invalidité. Au moins deux tiers des patients éligibles ont été référés pour des soins, bien que 80% de ceux souffrant d'invalidité aient besoin d'être référés en dehors de leur établissement de santé d'origine. CONCLUSIONS: Sept patients sur 10 ayant terminé le traitement de la TB présentaient au moins une comorbidité, un déterminant de risque et/ou une invalidité. Cela souligne la nécessité d'offrir des soins précoces centrés sur le patient, y compris une réadaptation pulmonaire, pour améliorer la qualité de vie, réduire la récurrence de la TB et augmenter la survie à long terme.

7.
Opt Express ; 20(3): 2081-95, 2012 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-22330449

RESUMO

Localization of single molecules in microscopy images is a key step in quantitative single particle data analysis. Among them, single molecule based super-resolution optical microscopy techniques require high localization accuracy as well as computation of large data sets in the order of 10(5) single molecule detections to reconstruct a single image. We hereby present an algorithm based on image wavelet segmentation and single particle centroid determination, and compare its performance with the commonly used gaussian fitting of the point spread function. We performed realistic simulations at different signal-to-noise ratios and particle densities and show that the calculation time using the wavelet approach can be more than one order of magnitude faster than that of gaussian fitting without a significant degradation of the localization accuracy, from 1 nm to 4 nm in our range of study. We propose a simulation-based estimate of the resolution of an experimental single molecule acquisition.


Assuntos
Interpretação de Imagem Assistida por Computador/métodos , Microscopia/métodos , Imagem Molecular/métodos , Nanopartículas/ultraestrutura , Análise de Ondaletas
8.
Int J Clin Pract ; 66(3): 262-9, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22151579

RESUMO

AIMS: South Asians in the UK have high cardiovascular disease (CVD) mortality. Therefore, this population is likely to benefit from screening programmes. To address this issue, an initiative was set up between the Royal Free Hampstead NHS Trust, H.E.A.R.T. UK and two Hindu temples in North London to provide screening for CVD risk factors in the community. METHODS: A total of 434 individuals of Gujarati Indian origin were screened. Measurements included anthropometry, blood pressure and lipid profiles. Three different scoring systems: Framingham, Joint British Societies' 2 and QRISK2 were used to estimate CVD risk. RESULTS: At least one modifiable CVD risk factor was present in 92% of the individuals screened; 52% were hypertensive, 40% were obese, 75% had central adiposity and 10% had total cholesterol/high density lipoprotein cholesterol ratio > 6. In addition, 37% of a subset of 104 individuals with a fasting sample fulfilled the diagnostic criteria for metabolic syndrome. Overall, 15% of participants screened had a 10-year CV risk score > 20% using QRISK2. The three risk score calculators showed moderate agreement: QRISK2 and JBS2 (kappa 0.61, 95% CI 0.54-0.67), QRISK2 and Framingham (kappa 0.63, 95% CI 0.57-0.70) and JBS2 and Framingham (kappa 0.70, 95% CI 0.64-0.75). CONCLUSIONS: A high prevalence of modifiable risk factors for CVD was detected in the population screened.


Assuntos
Doenças Cardiovasculares/etnologia , Hinduísmo , Adulto , Idoso , Pressão Sanguínea/fisiologia , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/fisiopatologia , Colesterol/sangue , Diagnóstico Precoce , Estudos de Viabilidade , Feminino , Humanos , Índia/etnologia , Londres/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade/etnologia , Prevalência , Medição de Risco/métodos , Fatores de Risco
9.
J Commun Dis ; 43(1): 11-5, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23785877

RESUMO

Patients infected with Non-tuberculous mycobacteria (NTM) usually do not respond to conventional anti-tubercular treatment and are misdiagnosed as infection with multi-drug resistant strains of mycobacterium tuberculosis (M.tb) due to lack of correct species identification, particularly in the developing countries like India. One of the challenges faced by clinicians in the treatment of tuberculosis is the absence of an easy, reliable and rapid identification tool that can accurately differentiate disease caused by M.tb complex from NTM. Keeping this in consideration, the performance of species specific nucleic acid probe i.e. Accuprobe was assessed and compared with conventional niacin production, nitrate reductase assay techniques for identification of M.tb complex in 80 mycobacterial isolates obtained from different extra-pulmonary sites. Accuprobe identified 62 isolates (77.5%) as M. tuberculosis complex and remaining 18 isolates (22.5%) as NTM whereas 64 isolates (80%) were identified as M.tb and rest 16 (20%) were interpreted as NTM by conventional biochemical techniques. The overall agreement between both techniques was 96.9% The sensitivity, specificity, positive predictive value(PPV) and negative predictive value (NPV) shown by accuprobe were 96.9%, 100%, 96.9%, and 88.9% respectively. Thus, accuprobe has showed impressive sensitivity and specificity giving results in < 3 hrs from culture-positive isolates and have sure edge over conventional biochemical methods which are, nonetheless, labour intensive and cumbersome to perform thus delaying prompt mycobacterial identification.


Assuntos
Mycobacterium tuberculosis/isolamento & purificação , Técnicas de Amplificação de Ácido Nucleico/métodos , Sondas de Ácido Nucleico , Tuberculose/diagnóstico , Humanos , Sensibilidade e Especificidade , Tuberculose/microbiologia
10.
J Laryngol Otol ; 135(9): 844-845, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34376269

RESUMO

BACKGROUND: Thyroid and parathyroid surgery often involves the use of heated instruments for dissection. Whilst these are beneficial, accidental thermal damage to the exposed skin edges can occur, resulting in an unsatisfactory cosmetic outcome. Tonsil swabs can be used in head and neck surgery intra-operatively to control bleeding. This paper describes an alternative use for them in protecting wound edges during the procedure. METHOD: Damp tonsil swabs are sutured onto the wound edges after the initial skin incision. They remain present for the duration of the surgery and are removed at the time of skin closure. RESULTS: The tonsil swabs provide protection and help avoid accidental injury to the skin. No complications with this technique have been experienced. CONCLUSION: This paper describes a simple, effective and practical technique for protecting the skin during neck procedures using resources readily available in a standard ENT operating theatre.


Assuntos
Perda Sanguínea Cirúrgica/prevenção & controle , Hemostasia Cirúrgica/instrumentação , Pescoço/cirurgia , Tonsila Palatina/cirurgia , Humanos , Glândulas Paratireoides/cirurgia , Paratireoidectomia/efeitos adversos , Paratireoidectomia/instrumentação , Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Tireoidectomia/instrumentação
11.
Poult Sci ; 100(1): 283-295, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33357692

RESUMO

A dairy-originated probiotic bacterium, Propionibacterium freudenreichii subsp. freudenreichii B3523 (PF) was found to be effective in reducing multidrug-resistant Salmonella Heidelberg (MDR SH) colonization in turkey poults (2-week-old) and growing (7-week-old) and finishing (12-week-old) turkeys. In this study, we explored the potential for microbiome modulation in the cecum of turkeys of different age groups due to PF supplementation in conjunction with MDR SH challenge. One-day-old commercial turkey poults were allocated to 3 treatment groups: negative control (N; turkeys without PF supplementation or SH challenge), SH control (S; turkeys challenged with SH without PF supplementation), and test group (P; turkeys supplemented with PF and challenged with SH). Turkeys were supplemented with 1010 CFU PF in 5-gallon (18.9 L) water until 7 or 12 week of age. At the 6th or 11th wk, turkeys were challenged with SH at 106 and 108 CFU/bird by crop gavage, respectively. After 2 and 7 d of challenge (2-d postinoculation [PI] and 7-d PI, respectively), cecal samples were collected and microbiome analysis was conducted using Illumina MiSeq. The experiments were repeated twice with 8 and 10 turkeys/group for 7- and 12-wk studies, respectively. Results indicated that the species richness and abundance (Shannon diversity index) was similar among the treatment groups. However, treatments caused apparent clustering of the samples among each other (P < 0.05). Firmicutes was the predominant phylum in the growing and finishing turkey cecum which was evenly distributed among the treatments except on wk 12 where the relative abundance of Firmicutes was significantly higher in P than in N (P = 0.02). The MDR SH challenge resulted in modulation of microflora such as Streptococcus, Gordonibacter, and Turicibacter (P < 0.05) in the S groups compared with the P and N groups, known to be associated with inflammatory responses in birds and mammals. The supplementation of PF increased the relative abundance of carbohydrate-fermenting and short-chain fatty acid-producing genera in the P group compared with the S group (P < 0.05). Moreover, the results revealed that PF supplementation potentially modulated the beneficial microbiota in the P group, which could mitigate SH carriage in turkeys.


Assuntos
Ceco , Microbiota , Doenças das Aves Domésticas , Probióticos , Propionibacterium , Salmonelose Animal , Perus , Animais , Antibiose , Ceco/microbiologia , Doenças das Aves Domésticas/microbiologia , Doenças das Aves Domésticas/prevenção & controle , Salmonella/fisiologia , Salmonelose Animal/microbiologia , Salmonelose Animal/prevenção & controle , Perus/microbiologia
12.
Nat Prod Res ; 35(24): 6216-6222, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33096964

RESUMO

Effect of Moringa oleifera, an age-old ingredient of Indian ayurvedic and traditional medicine, was tested for its effect on age related antioxidant activity in Wistar albino rats of three age groups (6, 12 and 18 months old). Aqueous extract of M. oleifera leaves (MOAE) was administered orally at a dosage of 200 mg/kg body weight for a period of 30 days. MOAE treatment showed significant reduction in lipid peroxidation and lipofuscin pigmentation along with elevated serotonin and antioxidant enzymes in the brains of treated groups of aged rats. LC-MS-MS analysis revealed blood brain barrier permeable secondary metabolites viz., 9,9-bianthracene, 4-Methoxycinnamic acid, Cinnamic acid, (E)-p-coumaric acid pyrogallol and ostruthin from the extract. 9,9-bianthracene and ostruthin showed better binding affinity to Keap-1 and SERT in silico. The present result suggests the protective efficacy of M oleifera against age related oxidative stress in brain.


Assuntos
Moringa oleifera , Envelhecimento , Animais , Antioxidantes/farmacologia , Extratos Vegetais/farmacologia , Folhas de Planta , Ratos , Ratos Wistar
13.
Clin Genet ; 77(6): 572-80, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20236128

RESUMO

Cascade testing using DNA-mutation information is now recommended in the UK for patients with familial hypercholesterolaemia (FH). We compared the detection rate and mutation spectrum in FH patients with a clinical diagnosis of definite (DFH) and possible (PFH) FH. Six hundred and thirty-five probands from six UK centres were tested for 18 low-density lipoprotein receptor gene (LDLR) mutations, APOB p.Arg3527Gln and PCSK9 p.Asp374Tyr using a commercial amplification refractory mutation system (ARMS) kit. Samples with no mutation detected were screened in all exons by single strand conformation polymorphism analysis (SSCP)/denaturing high performance liquid chromatography electrophoresis (dHPLC)/direct-sequencing, followed by multiplex ligation-dependent probe amplification (MLPA) to detect deletions and duplications in LDLR.The detection rate was significantly higher in the 190 DFH patients compared to the 394 PFH patients (56.3% and 28.4%, p > 0.00001). Fifty-one patients had inadequate information to determine PFH/DFH status, and in this group the detection rate was similar to the PFH group (25.5%, p = 0.63 vs PFH). Overall, 232 patients had detected mutations (107 different; 6.9% not previously reported). The ARMS kit detected 100 (44%) and the MLPA kit 11 (4.7%). Twenty-eight (12%) of the patients had the APOB p.Arg3527Gln and four (1.7%) had the PCSK9 p.Asp374Tyr mutation. Of the 296 relatives tested from 100 families, a mutation was identified in 56.1%. In 31 patients of Indian/Asian origin 10 mutations (two previously unreported) were identified. The utility of the ARMS kit was confirmed, but sequencing is still required in a comprehensive diagnostic service for FH. Even in subjects with a low clinical suspicion of FH, and in those of Indian origin, mutation testing has an acceptable detection rate.


Assuntos
Hipercolesterolemia/genética , Mutação , Apolipoproteínas B/genética , Testes Genéticos , Humanos , Hipercolesterolemia/diagnóstico , Projetos Piloto , Receptores de LDL/genética , Reino Unido
14.
HIV Med ; 10(8): 482-7, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19459988

RESUMO

OBJECTIVES: The aims of the study were to describe the clinical presentation and renal and bone abnormalities in a case series of HIV-infected patients receiving treatment with tenofovir (TDF), and to recommend appropriate screening for toxicity related to TDF. METHODS: Patients were identified from referrals to a specialist HIV renal clinic. Patients were included if treatment with TDF was assessed as the primary cause of the renal function impairment and clinical data were available prior to and following discontinuation of TDF treatment. Data were collected from case note review and clinic databases. RESULTS: Twenty-two patients (1.6% of all those who received TDF) were identified with TDF-associated renal toxicity. All had normal serum creatinine prior to TDF therapy. All presented with proteinuria. On stopping TDF, renal function improved. Eight patients had confirmed Fanconi syndrome. Twelve patients presented with bone pain and osteomalacia was confirmed on an isotope bone scan in seven of these patients. The findings (in those patients tested) of tubular proteinuria, reduced tubular transport maximum of phosphate (TmP), and glycosuria were all consistent with the proximal tubule being the site of toxicity. CONCLUSION: Renal toxicity remains a concern in patients treated with TDF. Clinical presentation may be with renal dysfunction, Fanconi syndrome or osteomalacia. Our investigations suggest proximal tubular toxicity as a common pathogenic mechanism.


Assuntos
Adenina/análogos & derivados , Fármacos Anti-HIV/efeitos adversos , Infecções por HIV/tratamento farmacológico , Nefropatias/induzido quimicamente , Túbulos Renais Proximais/efeitos dos fármacos , Organofosfonatos/efeitos adversos , Osteomalacia/induzido quimicamente , Adenina/efeitos adversos , Adulto , Creatinina/sangue , Creatinina/urina , Síndrome de Fanconi/induzido quimicamente , Feminino , Glicosúria/induzido quimicamente , Humanos , Nefropatias/urina , Testes de Função Renal/métodos , Túbulos Renais Proximais/metabolismo , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Osteomalacia/diagnóstico por imagem , Proteinúria/induzido quimicamente , Cintilografia , Tenofovir
15.
J Med Microbiol ; 68(11): 1585-1590, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31647400

RESUMO

Purpose. Acute bacterial meningitis continues to be a potentially life threatening condition. Hospital-acquired meningitis is rapidly increasing and adding an immense burden to the health system due to the emergence of multidrug resistance isolates. The purpose of this study is to find the antibiotic susceptibility pattern of the bacteria detected from hospital- and community-acquired meningitis.Methodology. A total of 400 Cerebrospinal fluid (CSF) samples from the suspected meningitis cases were collected and processed for cell count, biochemical examination, Gram staining, latex agglutination and culture. Bacteria grown on blood, chocolate and Mac-conkey agar were identified by matrix-assisted laser desorption/ionization-time of flight. Antibiotic susceptibility tests were performed as per Clinical and Laboratory Standard Institute guidelines.Results. Of the isolates, most prevalent Gram negative organisms in hospital-acquired bacterial meningitis were Escherichia coli 13 (27.08 %), Acinetobacter baumannii 12 (25 %), Klebsiella pneumoniae 5 (10.42 %), Pseudomonas aeruginosa 4 (8.33 %) and Gram positive organisms were Staphylococcus aureus 4 (8.33 %), Enterococcus faecium 3 (6.25 %) and CONS 2 (4.16 %). Streptococcus pneumoniae 3 (6.25 %) was the predominant organism in community-acquired bacterial meningitis. All the Gram negative isolates were multidrug resistance. Only colistin and imipenem were effective antibiotics against them. Likewise Gram positive organisms were susceptible to most of the antibiotics tested. However, E. faecium was only susceptible to Vanco+Teicoplanin.Conclusion. In hospital-acquired bacterial meningitis, multidrug resistance Gram negative bacteria are a huge challenge for the treatment of patients. Hence, antimicrobial stewardship should be followed to counteract with the emerging multidrug resistance isolates.


Assuntos
Bactérias/efeitos dos fármacos , Infecção Hospitalar/microbiologia , Farmacorresistência Bacteriana Múltipla , Meningites Bacterianas/microbiologia , Antibacterianos/farmacologia , Gestão de Antimicrobianos , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Colistina/farmacologia , Humanos , Imipenem/farmacologia , Índia , Testes de Sensibilidade Microbiana , Centros de Atenção Terciária/estatística & dados numéricos , Vancomicina/farmacologia
18.
Clin Oncol (R Coll Radiol) ; 31(12): 850-857, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31296457

RESUMO

AIMS: To report the outcomes of induction chemotherapy (ICT) followed by chemoradiotherapy (CTRT) for a large cohort of locoregionally advanced nasopharyngeal cancer (LA-NPC) from a non-endemic region. MATERIALS AND METHODS: Between January 2008 and July 2015, 201 patients with histologically proven, non-metastatic NPC were treated with ICT followed by CTRT at our institute. All the patients received two to three cycles of a taxane-based ICT regimen. Radiotherapy was delivered using an intensity-modulated radiotherapy (IMRT) technique in all patients. RESULTS: After a median follow-up of 37 months (range: 7-110 months), the 3-year disease-free survival (DFS), locoregional relapse-free survival (LRFS), distant metastasis-free survival (DMFS) and overall survival of the entire cohort was 72, 85, 83 and 87.4%, respectively. On multivariate analysis, histology was an independent predictor of DFS, LRFS and overall survival, with keratinising squamous cell carcinoma histologies predicting a worse outcome. The nodal stage was an independent predictor of DFS, DMFS and overall survival. Age, gender, ethnicity, tumour stage and response to ICT did not significantly affect any of the outcomes. Grade 2 or worse subcutaneous fibrosis was seen in 19% of patients at last follow-up and grade 2 or worse xerostomia was seen in 24% of patients. Thirty-nine per cent of patients developed clinical hypothyroidism at last follow-up. CONCLUSION: ICT followed by concurrent CTRT in the IMRT era provides excellent locoregional control, distant control and overall survival rates in patients with LA-NPC. However, distant failure continues to be a problem and may require further systemic intensification.


Assuntos
Quimiorradioterapia/métodos , Quimioterapia de Indução/métodos , Carcinoma Nasofaríngeo/radioterapia , Taxoides/uso terapêutico , Adolescente , Adulto , Idoso , Estudos de Coortes , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Carcinoma Nasofaríngeo/patologia , Estudos Prospectivos , Taxoides/farmacologia , Resultado do Tratamento , Adulto Jovem
19.
Environ Toxicol ; 23(5): 576-82, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18528908

RESUMO

Petroleum hydrocarbon contamination of harbor sediments from shipping activity, fuel oil spills, and runoffs are becoming a great concern because of the toxicity and recalcitrance of many of the fuel components. Polycyclic aromatic hydrocarbons (PAHs) are of most concern due to their toxicity, low volatility, resistance to degradation, and high affinity for sediments. Microorganisms, especially bacteria, play an important role in the biodegradation of these hydrocarbons. The objective of the present study was to characterize and isolate PAH-(naphthalene) degrading bacteria in the coastal sediments of Cadiz (SW Spain), since this area is mostly polluted by PAH occurrence. A total of 16 naphthalene-utilizing bacteria were isolated from these sites. Introduction of bacteria isolated from contaminated sediments into mineral medium contributed to the increased rate of hydrocarbon utilization. The bacterial isolates obtained from these sites are very potent in utilizing naphthalene and crude oil. It would be interesting to assess if the selected naphthalene-degrading isolates may degrade other compounds of similar structure. Hence these isolates could be very helpful in bioremediating the PAH-contaminated sites. Further pursue on this work might represent eco-friendly solution for oil contamination on sea surface and coastal area.


Assuntos
Bactérias/isolamento & purificação , Poluentes Ambientais/metabolismo , Sedimentos Geológicos/microbiologia , Naftalenos/metabolismo , Bactérias/crescimento & desenvolvimento , Bactérias/metabolismo , Biodegradação Ambiental , Contagem de Colônia Microbiana , Sedimentos Geológicos/química , Espanha
20.
Trop Doct ; 38(4): 251-2, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18820204

RESUMO

Four cases of concomitant tuberculosis and cryptococcosis infection in HIV-positive patients are described. As the HIV pandemic progresses and the proportion of patients with end-stage disease increases, a high suspicion of incidence and unusual forms of infections must always be kept in mind.


Assuntos
Infecções Oportunistas Relacionadas com a AIDS/complicações , Criptococose/complicações , Tuberculose/complicações , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade
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