RESUMEN
A re-investigation of subaerial parts of Leontodon cichoraceus (Ten.) Sanguin. yielded the new germacrane-type sesquiterpenoid 15-beta-D-glucopyranosyl-8-[p-(beta-D-glucopyranosyloxy)phenylacetyl]-salonitenolide. The structure was established by APCI mass spectrometry and 1D- and 2D-NMR spectroscopy. A survey by HPLC-DAD and HPLC-MS gave no signs of this compound in 23 other taxa of Leontodon.
Asunto(s)
Antiinfecciosos/aislamiento & purificación , Asteraceae/química , Sesquiterpenos de Germacrano , Sesquiterpenos/aislamiento & purificación , Antiinfecciosos/química , Cromatografía Líquida de Alta Presión , Glicósidos/química , Glicósidos/aislamiento & purificación , Espectroscopía de Resonancia Magnética , Espectrometría de Masas , Modelos Moleculares , Conformación Molecular , Sesquiterpenos/químicaRESUMEN
Hypertrophic cardiomyopathy occurs in two variants, either as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. Different genes coding sarcomeric proteins of the heart have been identified as causing hypertrophic cardiomyopathy. Missense mutations in the cardiac beta-myosin heavy chain gene are found in 30% of all cases of familial hypertrophic cardiomyopathy. We screened the beta-myosin heavy chain gene of children of nine Austrian families with hypertrophic cardiomyopathy (referred to as group A) and of seven children with sporadic hypertrophic cardiomyopathy (referred to as group B). We were able to find two previously described (V606M, R453C) and two unknown missense mutations (V406M, R663H) in group A. Additionally, in two children of group B we could identify one already known missense mutation, R249Q as well as one previously unknown missense mutation, M877K. The genetically affected children of group A developed no or only mild clinical symptoms, whereas the children of group B with genetically confirmed sporadic hypertrophic cardiomyopathy showed manifest left ventricular hypertrophy and clinical symptoms including chest pain and dyspnoea. Clinical symptoms among the adults of group A, suffering from familial hypertrophic cardiomyopathy, varied significantly. We therefore believe V406M to be a more malignant missense mutation, probably linked with sudden death in the affected family, than R663H, which seems to be more benign causing late-onset hypertrophic cardiomyopathy and mild clinical symptoms in the affected family members.
Asunto(s)
Cardiomiopatía Hipertrófica/genética , Cadenas Pesadas de Miosina/genética , Adolescente , Adulto , Edad de Inicio , Sustitución de Aminoácidos , Austria/epidemiología , Cardiomiopatía Hipertrófica/epidemiología , Niño , Preescolar , Cromosomas Humanos Par 14/genética , Análisis Mutacional de ADN , Muerte Súbita Cardíaca/epidemiología , Electrocardiografía , Femenino , Genes Dominantes , Predisposición Genética a la Enfermedad , Humanos , Lactante , Masculino , Mutación Missense , Linaje , Mutación PuntualRESUMEN
OBJECTIVE: The aim of our study was to determine the impact of treatment with exogenous surfactant (ES) and high frequency oscillatory ventilation (HFOV) on the radiological appearance and clinical course of hyaline membrane disease (HMD) in new-born infants. MATERIALS AND METHODS: New-born infants (18) (median weight, 1010 g) with severe HMD (stages 3.5 and 4) who were treated with ES and HFOV were matched by birth weight and severity of disease with 18 new-born infants treated with ES and conventional mechanical ventilation (CV). Chest radiograms taken on days 1, 2/3, 4/5, 7, 14 and 28 were analyzed to check for the severity of generalized parenchymal opacities (GPO), local opacifications, pulmonary interstitial emphysema (PIE), gross air leak, general and localized overinflation, bronchopulmonary dysplasia (BPD) and clinical variables such as survival rates, duration of mechanical ventilation, mean airway pressure and inspired oxygen concentration. RESULTS: At 4 weeks of age, new-born infants treated by HFOV had less severe GPO (median degree 1.5 vs. 3), less PIE (1 vs. 7 patients) and fewer signs of BPD (median BPD degree 1.5 vs. 2.6). The incidence of pneumothorax and of local opacifications were similar in both groups. New-born infants on HFOV had a lower mortality rate (5 vs. 13), needed fewer days of mechanical ventilation (median 15 vs. 23 days) and lower inspiratory oxygen concentrations (median FiO2 0.38 vs. 0.64). CONCLUSION: In new-born infants with HMD, treatment with ES and HFOV resulted in a favourable radiological and clinical outcome as compared to treatment with ES and CV.
Asunto(s)
Ventilación de Alta Frecuencia , Enfermedad de la Membrana Hialina/diagnóstico por imagen , Enfermedad de la Membrana Hialina/terapia , Fosforilcolina , Surfactantes Pulmonares/uso terapéutico , Respiración Artificial , Displasia Broncopulmonar/diagnóstico por imagen , Estudios de Casos y Controles , Combinación de Medicamentos , Alcoholes Grasos/uso terapéutico , Femenino , Humanos , Enfermedad de la Membrana Hialina/mortalidad , Recién Nacido , Pulmón/diagnóstico por imagen , Masculino , Polietilenglicoles/uso terapéutico , Radiografía , Tasa de Supervivencia , Resultado del TratamientoRESUMEN
Aortopulmonary collaterals occur in a variety of congenital heart diseases, in chronic pulmonary infection and abscesses, in association with lung tumors, and after multiple pulmonary emboli. In patients with congenital cyanotic heart disease aortopulmonary collaterals mainly occur in conditions with reduced pulmonary blood flow. We investigated 12 preterm low-birth-weight infants, gestational age 29.3+/-3.3 weeks, with respiratory failure who suffered from moderate to severe chronic lung disease after a period of mechanical ventilation. All patients developed aortopulmonary collaterals after closure of a patent ductus arteriosus. Aortopulmonary collaterals could be displayed clearly by color Doppler echocardiography and originated mainly from the descending aorta or the aortic arch. Hypoxic and hypercapnic episodes favored the development of aortopulmonary collaterals, which disappeared after pulmonary hemodynamics and respiratory function had improved. In only one patient coiling of a large col lateral vessel had to be performed. Systemic-to-pulmonary collateral vessels potentially aggravate chronic lung disease by increasing collateral pulmonary blood flow and reducing lung compliance. We conclude that aortopulmonary collaterals occur in bronchopulmonary dysplasia and can cause major problems in ventilated premature infants. Echocardiographic evaluation is important to prevent aggravation of chronic lung disease of infants at risk.
Asunto(s)
Aorta Torácica/diagnóstico por imagen , Conducto Arterial/fisiología , Ecocardiografía Doppler en Color , Recien Nacido Prematuro , Circulación Pulmonar , Insuficiencia Respiratoria/diagnóstico por imagen , Displasia Broncopulmonar/diagnóstico por imagen , Displasia Broncopulmonar/terapia , Circulación Colateral , Femenino , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Masculino , Respiración Artificial , Insuficiencia Respiratoria/terapia , Estudios RetrospectivosRESUMEN
UNLABELLED: Hyaluronidase has been gaining increasing interest as a spreading factor for better penetration of chemotherapeutics into CNS tumours. Five out of 16 patients with CNS tumours treated with hyaluronidase in addition to chemotherapeutic agents developed symptoms of immediate type allergic reactions, therefore we sought to characterize the harmful allergenic proteins of the bovine testes hyaluronidase enzyme preparation (Neopermease). The role of specific IgE for the allergic reaction was investigated. Using an immunoblotting technique, we investigated sera from 16 children treated with Neopermease (5 of them having developed anaphylactic reactions), 5 patients with atopy (atopic eczema) with high total IgE levels and 4 healthy children. SDS-PAGE of hyaluronidase preparation Neopermease revealed two major bands at 73 and 41-43 kDa. In all 5 sera from patients with adverse reactions, binding of specific IgE antibodies to have 73 and 41-43 kDa bands was found. Two patients reacted with the 73 kDa band exclusively, two patients reacted with both bands, one patient displayed IgE only to the 41-43 kDa band. A specific inhibition of IgE-binding to both bands was achieved after preincubation of the sera in four out of five patients with partially purified bovine hyaluronidase. Furthermore preincubation with gelatin, a stabilising agent in the commercial extract, led to a partial inhibition in the sera of three patients. No specific IgE binding was detected either in the sera of atopic patients, or in the control group. CONCLUSION: IgE mediated allergic reactions to hyaluronidase may occur in paediatric oncological patients treated with hyaluronidase. Whether these children are sensitized by intravenous hyaluronidase treatment or by cross-reactivity of other preformed IgE antibodies, yet to be specified, remains to be elucidated.
Asunto(s)
Antineoplásicos/inmunología , Neoplasias Encefálicas/tratamiento farmacológico , Hipersensibilidad a las Drogas/inmunología , Hialuronoglucosaminidasa/inmunología , Inmunoglobulina E/sangre , Adolescente , Animales , Especificidad de Anticuerpos/inmunología , Antineoplásicos/uso terapéutico , Neoplasias Encefálicas/inmunología , Bovinos , Niño , Preescolar , Reacciones Cruzadas , Femenino , Humanos , Hialuronoglucosaminidasa/uso terapéutico , Hipersensibilidad Inmediata/inmunología , Lactante , Infusiones Intravenosas , MasculinoRESUMEN
Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present study, three NDI families are described in which females show clinical features resembling the phenotype in males. Maximal urine osmolality in three female patients did not exceed 200 mosmol/kg and the absence of extra-renal responses to 1-desamino-8-D-arginine vasopressin was demonstrated in two of them. All affected females and two asymptomatic female family members were shown to be heterozygous for an AVPR2 mutation. Skewed X-inactivation is the most likely explanation for the clinical manifestation of NDI in female carriers of an AVPR2 mutation. It is concluded that, in female NDI patients, the possibility of heterozygosity for an AVPR2 gene mutation has to be considered in addition to homozygosity for mutations in the aquaporin 2 gene.
Asunto(s)
Diabetes Insípida Nefrogénica/genética , Mutación , Receptores de Vasopresinas/genética , Adolescente , Adulto , Secuencia de Bases , Niño , Preescolar , Mapeo Cromosómico , Femenino , Ligamiento Genético , Humanos , Lactante , Recién Nacido , Masculino , Datos de Secuencia Molecular , LinajeRESUMEN
Daily renewed composition of parenteral nutrition for premature and full-term newborn infants in intensive care is time consuming and prone to inherent calculation errors. We developed a knowledge based system, VIE-PNN (Vienna Expert System for Calculating Parenteral Nutrition of Neonates) for calculating the proposed composition of parenteral nutrition on the basis of the calculating algorithm used at our neonatal intensive care unit. The system needs manual input on postnatal age, body weight, serum electrolytes (or normal values if not available), amount and content of additional oral feeds, venous access (peripheral or central), total amount of fluid intake, and complications such as sepsis (reduced lipid supply) or cholestasis (reduced amino acid supply). The parenteral nutrition proposal may interactively be modified by the attending physician. There are possibilities for error detection to reduce the probability of typing or calculation errors. The system was developed to run on IBM compatible PCs and has been tested clinically. We describe the problem domain, system structure, clinical evaluation of VIE-PNN and the calculation of a standard parenteral nutrition solution from the data stored in the system's database.
Asunto(s)
Inteligencia Artificial , Sistemas Especialistas/instrumentación , Enfermedades del Prematuro/terapia , Nutrición Parenteral Total/instrumentación , Terapia Asistida por Computador/instrumentación , Algoritmos , Humanos , Recién Nacido , Cómputos Matemáticos , Necesidades NutricionalesRESUMEN
We report a rare case of a female newborn presenting with muscular hypotonia, pneumonia, and cardiovascular and renal insufficiency. Adrenal insufficiency was diagnosed clinically and proven by extremely low cortisone (0.4-0.8 microgram/dl) and high ACTH plasma levels. Myopathy was diagnosed clinically, as well as by muscular biopsy. DNA analysis of both X chromosomes showed no abnormality in the region of the genes for adrenal hypoplasia and Duchenne muscular dystrophy. After 4 weeks of intensive care therapy the patient died of multiorgan failure. At autopsy she had only microscopically visible fetal adrenal cells and multiple porencephalic lesions.
Asunto(s)
Glándulas Suprarrenales/anomalías , Insuficiencia Suprarrenal/genética , Hipotonía Muscular/genética , Glándulas Suprarrenales/patología , Insuficiencia Suprarrenal/patología , Hormona Adrenocorticotrópica/sangre , Biopsia , Deleción Cromosómica , Cortisona/sangre , Cortisona/deficiencia , Femenino , Genes Recesivos , Humanos , Recién Nacido , Microscopía Electrónica , Insuficiencia Multiorgánica/patología , Hipotonía Muscular/patología , Músculos/patología , Aberraciones Cromosómicas Sexuales/genética , Cromosoma XRESUMEN
Hypoglycaemia in neonates can be caused by malposition of the umbilical artery catheter (UAC). If the tip of the umbilical arterial catheter is located next to the origin of the great abdominal vessels glucose infusion is mainly directed into the coeliac trunk and superior mesenteric artery. Direct stimulation of the pancreatic gland might then result in hyperinsulinaemic hypoglycaemia. Generally, UAC position is controlled by x-ray. When using ultrasound for location of the UAC the exact topography and especially the relation of the tip of the UAC to the great vessel lumina can be documented precisely.