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1.
Artigo | IMSEAR | ID: sea-195872

RESUMO

Background & objectives: Individual donation nucleic acid testing (ID-NAT) is considered as sensitive technology to assess blood safety from viral transfusion-transmissible infections (TTIs) in blood donors. The present study was aimed to analyze the results of ID-NAT for three years (2013-2015) with special reference to different types of donors and their age ranges in a tertiary care centre in north India. Methods: The results of ID-NAT for three years were retrospectively analyzed at our centre. A total of 168,433 donations were tested with ID-NAT, of which 10,467 were tested with Procleix® Ultrio® reagents and 157,966 were tested with Procleix®UltrioPlus® reagents, and the results were compared with those of serology to calculate the NAT yield in voluntary, replacement, first-time and repeat donors. Results: A combined NAT yield was observed as one in 1031 out of 167,069 seronegative donations with HBV yield as one in 1465, HCV yield as one in 3885 and HIV-1 as one in 167,069. Yield for co-infection (HCV and HBV) was one in 41,767. A high NAT yield was observed in replacement donors (1 in 498) as compared to voluntary donors (1 in 1320). Interpretation & conclusions: Addition of NAT to serology improved the blood safety in our centre interdicting possibility of 150 TTIs annually. It has also reemphasized the safety of voluntary over replacement donors. The results also highlight the need of proper counselling, notification and referral guidelines of NAT yield donors in our country and other countries which lack them.

2.
J. inborn errors metab. screen ; 6: e180018, 2018. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1090951

RESUMO

Abstract The clinical as well as biochemical and genetic spectrum of peroxisomal diseases has markedly increased over the last few years, thanks to the revolutionary advances in the field of genome analysis and several -omics technologies. This has led to the recognition of novel disease phenotypes linked to mutations in previously identified peroxisomal genes as well as several hitherto unidentified peroxisomal disorders. Correct interpretation of the wealth of data especially coming from genome analysis requires functional studies at the level of metabolites (peroxisomal metabolite biomarkers), enzymes, and the metabolic pathway(s) involved. This strategy is not only required to identify the true defect in each individual patient but also to determine the extent of the deficiency as described in detail in this article.

3.
Artigo em Inglês | IMSEAR | ID: sea-144771

RESUMO

Background & objectives: In congestive heart failure (CHF), increased concentrations of several cytokines including cardiotrophin-1 (CT-1) and immunactivation are found. This study was performed to evaluate whether CT-1 can induce in vitro cytokines in monocytes and CD4+ T-lymphocytes of healthy volunteers. Methods: The study was performed in vitro to see whether CT-1 can modulate monocyte or CD4+ T-lymphocyte interleukin (IL)-1β, -2, -4, -5, -10, interferon γ (IFNγ), and tumour necrosis factor α (TNFα) expression by flow cytometry following stimulation with CT-1 alone or together with lipopolysaccharide (LPS) or phorbol myristate acetate (PMA)/ionomycine (iono). Results: CT-1 increased the number of TNFα and IL-1β positive monocytes. LPS induced IL-10, TNFα, and IL-1β in monocytes but only IL-2 in CD4+ T-lymphocytes, whereas PMA/iono induced all cytokines besides IL-5 in monocytes and IL-1β in CD4+ T-lymphocytes. In LPS activated monocytes, CT-1 induced a concentration-dependent reduction in the number of TNFα positive monocytes. After LPS activation, CT-1 decreased the number of CD4+ lymphocytes positive for IL-2, IL-4, and IL-5. In addition, following PMA/iono stimulation, CT-1 initiated a concentration-dependent decrease of CD4+ T-lymphocytes positive for TNFα, IL-4, IL-5, and IL-10. Interpretation & conclusions: The present data show that in vitro CT-1 can activate monocytes and modulate cytokine production of activated CD4+ T-lymphocytes. We speculate that CT-1 may at least be partly responsible for immunactivation in CHF.


Assuntos
Adjuvantes Farmacêuticos , Adulto , Linfócitos T CD4-Positivos/imunologia , Citocinas/biossíntese , Citocinas/imunologia , Citocinas/farmacocinética , Insuficiência Cardíaca , Humanos , Imunossupressores/farmacocinética , Fator de Necrose Tumoral alfa
4.
Indian Pediatr ; 2012 July; 49(7): 583-585
Artigo em Inglês | IMSEAR | ID: sea-169408

RESUMO

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9-year-old boy, diagnosed with HIDS due to two novel mutations, c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene. The pathogenicity of these mutations was confirmed by measurement of low MVK enzyme activity in cultured primary skin fibroblasts of the patient. The symptoms have been refractory to therapy with steroids and non steroidal anti inflammatory drugs. This report expands the genetic and ethnic spectrum of HIDS.

5.
Indian J Pediatr ; 2009 Feb; 76(2): 215-7
Artigo em Inglês | IMSEAR | ID: sea-79666

RESUMO

Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.


Assuntos
Oxalato de Cálcio/análise , Galactosiltransferases/genética , Feminino , Humanos , Hiperoxalúria Primária/complicações , Hiperoxalúria Primária/genética , Lactente , Rim/química , Masculino , Nefrocalcinose/complicações , Nefrocalcinose/genética , Mutação Puntual/genética
6.
Chinese Medical Journal ; (24): 2592-2598, 2008.
Artigo em Inglês | WPRIM | ID: wpr-265891

RESUMO

<p><b>BACKGROUND</b>In addition to elevated concentrations of cytokines, patients with congestive heart failure (CHF) show endothelial dysfunction and increased plasma concentrations of adhesion molecules like intercellular adhesion molecule-1 (ICAM-1). Furthermore, the concentration of cardiotrophin-1 (CT-1)--a cytokine of the interleukin-6 superfamily--is increased in CHF. We tested the hypothesis whether CT-1 is able to induce ICAM-1 in human umbilical vein endothelial cells (HUVEC). Furthermore we examined the signalling mechanisms of CT-1 mediated ICAM-1 expression.</p><p><b>METHODS</b>Confluent layers of HUVEC were incubated with increasing concentrations of CT-1 (5 to 100 ng/ml) for different periods. ICAM-1 mRNA was determined by real-time polymerase chain reaction (PCR) and ICAM-1 surface expression by fluorescence-activated cell sorter (FACS) analysis and soluble ICAM-1 (sICAM-1) in the culture supernatant by enzyme linked immunosorbent assay (ELISA). To clarify the signalling pathway of CT-1 induced ICAM-1 expression we used various inhibitors of possible signal transducing molecules, electromobility shift assay (EMSA) and Western blot analysis.</p><p><b>RESULTS</b>CT-1 induced ICAM-1 mRNA (1.8 +/- 0.8 fold increase compared to unstimulated cells after 6 hours) and protein (1.4 +/- 0.2 fold increase compared to unstimulated cells after 48 hours) in HUVEC in a time- and concentration-dependent manner. EMSA experiments show that CT-1 causes nuclear factor (NF) kappaB activation. Because parthenolide could inhibit CT-1 induced ICAM-1 expression NFkappaB activation is required in this pathway. CT-1 did not activate extracellular signal regulated kinases (ERK), c-Jun N-terminal kinase (JNK) and p38.</p><p><b>CONCLUSION</b>CT-1 is able to induce ICAM-1 in endothelial cells by NFkappaB activation. These results may explain in part elevated ICAM-1 concentrations in patients with CHF and endothelial dysfunction.</p>


Assuntos
Humanos , Antracenos , Farmacologia , Butadienos , Farmacologia , Células Cultivadas , Citocinas , Farmacologia , Ensaio de Desvio de Mobilidade Eletroforética , Células Endoteliais , Metabolismo , Ensaio de Imunoadsorção Enzimática , MAP Quinases Reguladas por Sinal Extracelular , Metabolismo , Citometria de Fluxo , Expressão Gênica , Molécula 1 de Adesão Intercelular , Genética , Proteínas Quinases JNK Ativadas por Mitógeno , Metabolismo , NF-kappa B , Metabolismo , Nitrilas , Farmacologia , Reação em Cadeia da Polimerase , Sesquiterpenos , Farmacologia , Veias Umbilicais , Biologia Celular , Proteínas Quinases p38 Ativadas por Mitógeno , Metabolismo
8.
Rev. bras. odontol ; 54(6): 318-20, nov.-dez. 1997.
Artigo em Português | LILACS, BBO | ID: lil-230200

RESUMO

Periodontite juvenil localizada PJL e sua forte associaçäo com o actinobacillus actinomycetemcomitans (Aa) tem sido usada para evidenciar a teoria da placa específica na doença periodontal. A prevalência da doença varia de 0,1 por cento a 3 por cento na maior parte dos estudos. Esta baixa prevalência gera a necessidade de examinar um grande número de indivíduos, a fim de conseguir uma amostragem significativa para análise. Contudo há necessidade de um método de exame näo dispendioso, fácil de aplicar, válido e confiável. O objetivo deste trabalho é registrar a sensibilidade e especificidade de um novo método de exame, usando cunha de madeira pra medir a profundidade dos sulcos


Assuntos
Humanos , Criança , Adolescente , Adulto , Aggregatibacter actinomycetemcomitans , Periodontite Agressiva/diagnóstico , Doenças Periodontais , Periodontite Agressiva/epidemiologia
9.
Indian J Ophthalmol ; 1996 Dec; 44(4): 225-7
Artigo em Inglês | IMSEAR | ID: sea-69639

RESUMO

Preseptal cellulitis has a typically benign course when treated with antibiotics, the clinical course depending on age of the patient, aetiology and the causative organism. In this study, 14 cases of preseptal cellulitis are documented with the age ranging from 2 to 55 years. The organisms isolated were Staphylococcus aureus (7 cases), Streptococcus pyogenes (2 cases) and Pseudomonas aeruginosa (1 case). In the remaining four patients no organism could be identified. All except four patients were cured within 6 weeks. Complications seen included lagophthalmos, lid abscess, cicatricial ectropion and lid necrosis in one patient each. The prognosis for preseptal cellulitis is good with appropriate antibiotics and surgical therapy.


Assuntos
Adolescente , Adulto , Celulite (Flegmão)/diagnóstico , Criança , Pré-Escolar , Túnica Conjuntiva/microbiologia , Quimioterapia Combinada/uso terapêutico , Infecções Oculares Bacterianas/diagnóstico , Doenças Palpebrais/diagnóstico , Pálpebras/microbiologia , Feminino , Gentamicinas/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Penicilina G/uso terapêutico , Pseudomonas/isolamento & purificação , Infecções por Pseudomonas/diagnóstico , Infecções Estafilocócicas/diagnóstico , Staphylococcus aureus/isolamento & purificação , Infecções Estreptocócicas/diagnóstico , Streptococcus pyogenes/isolamento & purificação
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