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1.
Indian Pediatr ; 2015 Mar; 52(3): 243-244
Artigo em Inglês | IMSEAR | ID: sea-171190

RESUMO

Background: Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases. Case characteristics: Two siblings presented with progressive limb girdle weakness without significant fluctuations or ocular muscle weakness. Repetitive nerve stimulation showed a decremental response and there was no response to pyridostigmine therapy. Outcome: A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings. Message: Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol.

2.
Indian J Cancer ; 2012 Jan-Mar; 49(1): 181-187
Artigo em Inglês | IMSEAR | ID: sea-144569

RESUMO

Background: Actin cytoskeleton is involved in actin-based cell adhesion, cell motility, and matrix metalloproteinases(MMPs) MMP2, MMP9, MMP11 and MMP14 are responsible for cell invasion in breast cancer metastasis. The dietary intake of lignan from flax seed gets converted to enterolactone (EL) and enterodiol in the human system. Here we show that the enterolactone has a very significant anti-metastatic activity as demonstrated by its ability to inhibit adhesion and invasion and migration in MCF-7 and MDA MB231 cell lines. Materials and Methods: Migration inhibition assay, actin-based cell motility assay along with reverse transcriptase polymerase chain reaction (RT-PCR) for MMP2, MMP9, MMP11 and MMP14 genes were performed in MCF-7 and MDA MB 231 cell lines. Results: Enterolactone seems to inhibit actin-based cell motility as evidenced by confocal imaging and photo documentation of cell migration assay. The results are supported by the observation that the enterolactone in vitro significantly down-regulates the metastasis-related metalloproteinases MMP2, MMP9 and MMP14 gene expressions. No significant alteration in the MMP11 gene expression was found. Conclusions: Therefore we suggest that the anti-metastatic activity of EL is attributed to its ability to inhibit cell adhesion, cell invasion and cell motility. EL affects normal filopodia and lamellipodia structures, polymerization of actin filaments at their leading edges and thereby inhibits actin-based cell adhesion and cell motility. The process involves multiple force-generating mechanisms of actin filaments i.e. protrusion, traction, deadhesion and tail-retraction. By down-regulating the metastasis-related MMP2, MMP9 and MMP14 gene expressions, EL may be responsible for cell invasion step of metastasis.


Assuntos
4-Butirolactona/análogos & derivados , 4-Butirolactona/farmacologia , Citoesqueleto de Actina/efeitos dos fármacos , Neoplasias da Mama/dietoterapia , Neoplasias da Mama/patologia , Adesão Celular/efeitos dos fármacos , Movimento Celular/efeitos dos fármacos , Feminino , Linho/metabolismo , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , Lignanas/administração & dosagem , Lignanas/metabolismo , Lignanas/farmacologia , Células MCF-7 , Metaloproteinases da Matriz/genética , Metaloproteinases da Matriz/metabolismo , Invasividade Neoplásica , Metástase Neoplásica
3.
Artigo em Inglês | IMSEAR | ID: sea-25313

RESUMO

BACKGROUND & OBJECTIVES: Distal upper limb spinal muscular atrophy (SMA) is an uncommon segmental variant of SMA. The condition is usually sporadic, affects males more often than females, and manifests late in the second decade of life, remaining confined to the upper limbs. We examined four patients with this form of SMA in order to determine if they carried homozygous deletion mutations in the survival motor neuron (SMN) or neuronal apoptosis inhibitory protein (NAIP) genes that underlie proximal SMA. METHODS: The four patients with distal upper limb SMA were analysed clinically, electrophysiologically and biochemically. Genomic DNA from each of the patients was analysed by restriction enzyme digestion of polymerase chain reaction (PCR) amplification products, as well single stranded conformation polymorphism (SSCP), to detect deletion events of selected exons of the SMN and NAIP genes. RESULTS: The clinical phenotype of the four patients, together with the biochemical and electrophysiological studies, confirmed a diagnosis of distal upper limb SMA. The molecular studies excluded homozygous deletion mutations in these patients as causative of their phenotype. INTERPRETATION & CONCLUSION: The genetic component underlying distal upper limb SMA appears not to involve mutations that are common in proximal SMA patients. It is possible that genes other than SMN and NAIP may be involved, while somatic mosaicism of SMN gene mutations could be implicated in the segmental nature of distal upper limb SMA.


Assuntos
Adolescente , Braço/fisiopatologia , Sequência de Bases , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico , Primers do DNA , Feminino , Amplificação de Genes , Deleção de Genes , Humanos , Masculino , Atrofia Muscular Espinal/genética , Proteínas do Tecido Nervoso/genética , Polimorfismo Conformacional de Fita Simples , Proteínas de Ligação a RNA , Proteínas do Complexo SMN
4.
Indian J Exp Biol ; 1999 Feb; 37(2): 161-5
Artigo em Inglês | IMSEAR | ID: sea-60716

RESUMO

In vivo assessment and identification of aneuploidy are important phases of genotoxicity evaluation. Considerable effort has been devoted to assess the utility of the existing bioassays and to develop simpler techniques for identifying environmental aneugens. Salbutamol sulphate--an antiasthmatic drug was tested for its spindle damaging effects in bone marrow cells of mice using an in vivo technique, for the evaluation of mitotic index, C-mitotic effects, anaphase reduction and hyperdiploidy. Doses of 0.12, 0.24, 1.2, 2.4, mg/kg body weight were dissolved in bidistilled water and administered intraperitoneally to the mice. Colchicine was taken as positive control for its known aneuploidy-inducing effects. The drug showed positive C-mitotic effects accompanied with increases of mitotic index and decreased frequencies of anaphase in higher doses. Significant levels of hypodiploidy also noted at higher doses. The preliminary results indicated that Salbutamol is capable of inducing C-mitotic effects in mouse bone marrow cells, which is suggestive of possible induction of aneuploidy.


Assuntos
Albuterol/toxicidade , Aneuploidia , Animais , Antiasmáticos/toxicidade , Células da Medula Óssea/efeitos dos fármacos , Feminino , Masculino , Camundongos , Fuso Acromático/efeitos dos fármacos
5.
Hindustan Antibiot Bull ; 1997 Feb-Nov; 39(1-4): 1-10
Artigo em Inglês | IMSEAR | ID: sea-2619

RESUMO

Penicillin G-Acylase is produced by submerged cultivation of E. Coli (NCIM-2400) and extracted from the harvested fermented broth, purified (affinity chromatography) and immobilised on Eupergit C (Synthetic polymer in bead form). The immobilised penicillin G acylase properties are studied and compared with soluble penicillin G-acylase. The control parameters for conversion of penicillin G-K to 6 APA are optimised [e.g. substrate (Pen G-K) concentration ratio to immobilised penicillin G-acylase, temperature, pH etc.] in a stirred tank reactor. Our findings suggest that immobilised penicillin G-acylase can be used commercially and the productivity of 1 kg. of immobilised enzyme is around 400 kg of 6 APA under given desired stipulated conditions.


Assuntos
Enzimas Imobilizadas/química , Escherichia coli/enzimologia , Concentração de Íons de Hidrogênio , Ácido Penicilânico/análogos & derivados , Penicilina Amidase/isolamento & purificação , Polímeros
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