RESUMEN
A marked discrepancy between mild and late clinical features and a nearly complete absence of erythrocyte uroporphyrinogen decarboxylase activity (Ery-UROD activity) was observed in a case of inherited porphyria cutanea tarda. The entity and time of appearance of clinical features, the onset of clinical symptoms after exposure to contributing factors, the effectiveness of phlebotomies and heterozygosity of the mother alone for uroporphyrinogen decarboxylase (UROD) deficiency were typical for familial porphyria cutanea tarda (F-PCT), whereas the extremely low UROD activity was peculiar to hepatoerythropoietic porphyria (HEP). These observations indicate that: 1) Ery-UROD activity may not always be useful to discriminate between F-PCT and HEP; 2) Ery-UROD activity does not always correlate with clinical symptoms; 3) in inherited UROD deficiency, the genetic defect may be heterogeneous. Finally, the observed discrepancy may provide additional evidence for the existence of tissue-specific isozymes.
Asunto(s)
Eritrocitos/enzimología , Porfiria Cutánea Tardía/diagnóstico , Porfiria Cutánea Tardía/genética , Uroporfirinógeno Descarboxilasa/sangre , Adulto , Biomarcadores/sangre , Consanguinidad , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Linaje , Porfiria Cutánea Tardía/terapia , Porfirinas/sangre , Porfirinas/orinaRESUMEN
Both human cell lines HL-60 and AML-193 exhibit a myeloblastic and promyelocytic morphology, respectively, but may be regarded as bipotent leukemic precursors. They can be triggered to differentiate to either granulocytes or monocytes upon retinoic acid (RA) or 1,25-dihydroxyvitamin D (D3) addition, respectively. We have investigated the effect of combined addition of these chemical inducers on the in-vitro differentiation of both cell lines. RA and D3 added together exert synergistic effects on the in-vitro maturation of these myeloid cell lines. Interestingly, the additive effects were lost if the cells were incubated with the inducers added at sequential times. The synergistic effect could be transposed in vivo and could be clinically significant in the treatment of the promyelocytic leukemia. This clinical strategy may help to prevent retinoic acid resistance or to overcome it in patients relapsed after RA therapy and usually unresponsive to a reinduction therapy with RA alone.
Asunto(s)
Colecalciferol/administración & dosificación , Leucemia Promielocítica Aguda/tratamiento farmacológico , Tretinoina/administración & dosificación , Diferenciación Celular/efectos de los fármacos , Resistencia a Medicamentos , Sinergismo Farmacológico , Células HL-60 , Humanos , Leucemia Promielocítica Aguda/patología , Modelos Biológicos , Células Tumorales CultivadasRESUMEN
BACKGROUND: The purpose of this study was to evaluate the relationship between duodenal ulcer (DU), Helicobacter pylori (Hp) infection and genetic and enviromental factors, and its influence on treatment and long-term RESULTS. METHOD: In the course of an epidemiological study on the prevalence of esophagogastroduodenal diseases, 1,169 volunteers underwent an endoscopy of the upper part of the gastrointestinal tract. The relationship of incidence rate and size of duodenal ulcers and several risks factors was investigated. RESULTS: A DU was observed in 240 subjects (20.5%), mostly of male gender (64.4% - p<0.0001). The Histological presence of a gastric Hp infection was confirmed in 179 cases (74.6%); it did not influenced the mean size of the ulcers and the presence of gastric intestinal metaplasia, compared to subjects without Hp infection. However, a superficial chronic gastritis was observed in 95.9% of Hp+ subjects and in 83.3% of Hp- (p<0.003), whereas a familiar history of DU was noted in 33.3% of Hp+ subjects and in 50.8% of Hp- (p<0.02). The main risk factor for DU was represented by Hp infection in 119 cases (49.6%), by infective and genetic factors in 60 cases (25%) and only by the genetic factor in 31 cases (12.9%), and was not detected in 30 cases (12.5%). Ulcer recurrence rates, after medical therapy, were 0,5% and 6.5% (p<0.03) at a 2-month follow-up, and 2.2% and 49.1% (p<0.00001) at a 12-month follow-up, among Hp+ and Hp- patients, respectively. CONCLUSIONS: The most common risk factor for DU was a gastric Hp infection, alone or associated to the genetic factor. Since the high incidence of recurrences at a 12-month follow-up, patients affected with a DU but Hp- represented an important therapeutic concern.
Asunto(s)
Úlcera Duodenal/microbiología , Infecciones por Helicobacter/complicaciones , Helicobacter pylori , Adolescente , Adulto , Anciano , Úlcera Duodenal/epidemiología , Femenino , Infecciones por Helicobacter/epidemiología , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Factores de RiesgoRESUMEN
BACKGROUND: To evaluate the prevalence and endoscopic grade of reflux oesophagitis (RO) and to correlate them to symptoms and to a list of risk factors including age, sex, weight, smoking, alcohol, work, hiatus hernia. METHODS: This study was carried out in Roccacorga (LT), a little town of 3435 inhabitants in central Italy. The sample totalled 1084 volunteers, aged over 18 years old and enlisted in opened cohort. After filling in the questionnaire, all the patients were subjected to esophagogastroduodenoscopy without eating for at least six hours and diazepam pretreated (10 mg ev). Three biopsies were routine performed on the 3 biopsies on distal esophagous wall. The RO range was evaluated according to the Savary-Miller classification. RESULTS: The RO was found in 443 patients (188 M, 42%; 255 F, 58%) (p<0.0002), a large number of asymptomatic patients (39%). The prevalence of hiatus hernia was 7.2%, RO associated in 60.3% (p<0005). The prevalence of associated gastroduodenal injuries was pointed out (p<0.03). Patients affected only by RO were mostly female (p<0.02). Precancerous esophagous were 0,37%. CONCLUSIONS: According to this study the RO diagnosed through endoscopy is much more prevalent than supposed, especially among females and it affects a younger age than reported (31-50 years). Smoking and alcohol are among male risk factors, while, in female, agricultural works, weight and hormonal state could have a leading role (p=NS).
Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 3/genética , Genes Dominantes/genética , Queratocono/genética , Adulto , Anciano , Colágeno Tipo VIII/genética , Femenino , Haplotipos , Humanos , Italia , Queratocono/patología , Queratocono/fisiopatología , Escala de Lod , Masculino , Persona de Mediana Edad , LinajeRESUMEN
In this work the AA, take into account the characteristics of the Caridex system, doing an analysis, after a review of the literature, of the advantages and of the inconveniences.
Asunto(s)
Aminobutiratos , Caries Dental/terapia , Preparación de la Cavidad Dental , HumanosRESUMEN
In this work is taken into consideration the effectiveness therapeutics of the Chlorhexidine, in the practice of prevention of various forms of periodontal disease. The comparison with the Oradyne Z explain analogy of effects between the two compounds and the lack of collateral effects for part of this last.
Asunto(s)
Antiinfecciosos/uso terapéutico , Clorhexidina/uso terapéutico , Placa Dental/prevención & control , Antisépticos Bucales/uso terapéutico , Humanos , Enfermedades Periodontales/tratamiento farmacológico , Compuestos de Amonio CuaternarioRESUMEN
Evidence is accumulating regarding CD95/CD95 ligand (Fas/FasL) pathway dysregulation in clonal diseases of the lymphohaemopoietic lineages. According to these observations, it has been proposed that this defect may represent one of the mechanisms of tumour progression. In large granular lymphocyte (LGL) leukaemia, dysregulated apoptosis may represent a key event in the development of malignancy and autoimmunity. This case report describes dysregulation of the Fas/FasL pathway in a chronic polyclonal expansion of CD3(+) LGLs associated with numerous serological immune abnormalities.