RESUMEN
INTRODUCTION: Inherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterized by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleeding tendency. In spite of several causative genes having been identified, the underlying genetic defects remain to be identified in approximately half of the cases. AIMS: To understand the molecular pathology of isolated giant platelet disorder from India. MATERIALS AND METHODS: We studied 112 cases that were referred for investigation of macrothrombocytopenia. Agonist induced platelet aggregation and platelet GP1b/IX/V receptor expression were investigated to assess GP1b/IX/V receptor expression and the GP1BA, GP1BB, GP9, ABCG5, ABCG8, TUBB1 and MYH9 genes were analysed to identify candidate gene defects. RESULTS: Twenty-three candidate gene defects were identified in 48 of 112 cases, 20 of which were novel. Of the candidate defects identified, 91% were missense and 9% were nonsense variations. The missense variations were in GP9 (9), ABCG5 (4), GP1BB (3), GP1BA (3) and MYH9 (2), while the nonsense defects occurred in MYH9 (1) and GP1BA (1). CONCLUSIONS: This study increases the understanding of the molecular basis of an isolated giant platelet disorder, a common heterogeneous condition prevalent in north and eastern India.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Complejo GPIb-IX de Glicoproteína Plaquetaria/metabolismo , Trombocitopenia/diagnóstico , Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 5/genética , Adolescente , Adulto , Anciano , Pruebas de Coagulación Sanguínea , Plaquetas/citología , Plaquetas/metabolismo , Niño , Codón sin Sentido , Femenino , Estudios de Asociación Genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Genotipo , Hemorragia/etiología , Heterocigoto , Humanos , India , Lipoproteínas/genética , Masculino , Persona de Mediana Edad , Proteínas Motoras Moleculares/genética , Mutación Missense , Cadenas Pesadas de Miosina/genética , Fenotipo , Complejo GPIb-IX de Glicoproteína Plaquetaria/genética , Polimorfismo de Nucleótido Simple , Trombocitopenia/congénito , Trombocitopenia/genética , Adulto JovenRESUMEN
Thermometric titration of HClO(4), HI, HNO(3), HBr, picric acid o-nitrobenzoic acid, 2,4- and 2,5-dinitrophenol, acetic acid and benzoic acid have been attempted in pyridine as solvent, using 1,3-diphenylguanidine as the base. Except in the case of 2,5-dinitrophenol, acetic acid and benzoic acid, the results are, in general, reasonably satisfactory. The approximate molar heats of neutralization have been calculated.
RESUMEN
The pK(a)'s of acetic acid and benzoic acid in pyridine as solvent are found to be 10.1 and 9.8, respectively, at 25 degrees . These results are based on measurements of hydrogen ion activities in mixtures of the acids and their tetrabutylammonium salts. Supplementary studies of differential vapour pressure characteristics of solutions of the acids and the acid-salt mixtures, and conductance of tetrabutylammonium benzoate solutions are also incorporated.
RESUMEN
A study on leprous neuritis, involving the ulnar nerve, was carried out on 39 patients. The evaluation of nerve function was done before and after treatment by a score chart. Patients were divided into two groups. Group A (21 patients) was subjected to neurolysis only, and group B (18 patients) were given the combined treatment of neurolysis and perineural corticosteroid injection at the same time as neurolysis and subsequently at the end of the second and third weeks. In group B, 83.3% of patients showed 10% or more increase in the posttreatment score in comparison with 57.1% in group A. Improvement was more marked in paucibacillary cases and when the duration of nerve involvement was less than 3 months. Patients with short segments of nerve involvement with minimal thickening had better recovery. This procedure was observed to be simple, easy and well accepted by the patients, with a marked beneficial effect.
Asunto(s)
Lepra Tuberculoide/cirugía , Triamcinolona Acetonida/administración & dosificación , Nervio Cubital/cirugía , Adolescente , Adulto , Terapia Combinada , Femenino , Humanos , Inyecciones , Lepra Tuberculoide/tratamiento farmacológico , Masculino , Métodos , Triamcinolona Acetonida/uso terapéuticoRESUMEN
The mixing behaviour of plant oils (ricebran, saffola and clove) with water in presence of amphiphiles (Triton X-100, Tween-60, Aerosol OT, Igepal, Na-oleate, ethanol and cinnamic alcohol) in various ternary and quaternary combinations has been studied. The phase behaviour at different mass proportions and temperature has been investigated in the absence and presence of additives such as NaCl, glucose, urea and cholesterol. Of all the combinations studied, those with ethanol plus sodium oleate as amphiphile have shown maximum extent of single phase microemulsion formation. The presence of urea in the aqueous medium has further increased the monophasic extent whereas NaCl has decreased it. Cholesterol in oil and glucose in water have apparently shown inert effects. The effects of the additives on the formation of biphasic or triphasic formulations, on the other hand, have been found to be distinct and well-dependent on [H2O]/[amphiphile] mole ratio and temperature. Spectral measurements of I3- in the aqueous micropool in microemulsion of clove oil/(ethanol + Na-oleate)/water have shown the microenvironment to be physicochemically different from bulk water.
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Emulsiones , Aceites de Plantas , Tensoactivos , Agua , Soluciones , Espectrofotometría , Relación Estructura-Actividad , TermodinámicaRESUMEN
Ninety-six cases of different stages of lymphoedema of inferior extremity were taken for study. Twenty-four patients with early lymphoedema (stage II) were subjected to lymphonodovenous shunt (LNVS) operation; 54 patients of late lymphoedema with skin changes (Stage IV) were subjected to Charles' operation and 18 patients with late lymphoedema without skin changes (stage III) were subjected either to Sistrunk's or Thompson's operation. All the results were studied, evaluated and compared. The cases subjected to LNVS operation had a rapid relief of lymphoedema in the early postoperative period followed by slow reduction. Patients subjected to Charles' operation had immediate volume and circumference reduction and take up of skin grafting was 84%. The cases subjected to Thompson's operation did not have satisfactory reduction in volume and circumference postoperatively. There were a few minor postoperative complications in all these procedure, infection being most notable in those who had undergone Charles' operation. It is concluded that while excisional surgery, such as Charles' operation becomes necessary for late stages of lymphoedema, which have progressed to elephantiasis, nodovenous shunt alone is sufficient to relieve early stages of lymphoedema due to filariasis.
Asunto(s)
Filariasis Linfática/cirugía , Pierna/cirugía , Adolescente , Adulto , Anciano , Animales , Niño , Femenino , Humanos , Masculino , Microfilarias/aislamiento & purificación , Persona de Mediana Edad , Complicaciones PosoperatoriasRESUMEN
Sixty cases of oral cancer (2 were of stage II and other 58 were of stage III and stage IV) were treated and observed over a period of 2 years. In patients of oral cancer with bone involvement and mobile cervical nodes (44 cases) local excision which included partial or hemimandibulectomy with radical neck node dissection was performed. Out of these 44 cases, 18 cases received radiotherapy pre-operatively and 26 cases postoperatively. Better results were observed in these cases. When the growth was inaccessible and/or nodes were fixed (13 cases) radiotherapy was found to be suitable. Fistula formation and reconstructive flap necrosis were common following surgery after radiotherapy. Combined modalities of treatment with pre- and postoperative radiotherapy and radical neck node dissection showed excellent results (86.4%) in majority of cases. The remaining one patient received chemotherapy and local excision was performed in 2 cases.