RESUMO
A girl born with a left chest wall hamartoma, macroglossia, nevus flammeus of the middle forehead, and a small umbilical hernia developed left lower extremity hemihypertrophy by 1 year of age and is assumed to have Wiedemann-Beckwith syndrome. Hamartoma of the bladder and a cardiac fibrous hamartoma have been reported previously in association with Wiedemann-Beckwith syndrome. Infantile hamartomas are exceedingly rare and add to the spectrum of tumor formation in the syndrome.
Assuntos
Síndrome de Beckwith-Wiedemann/patologia , Hamartoma/patologia , Doenças Torácicas/patologia , Adolescente , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/genética , Criança , Pré-Escolar , Cromossomos Humanos Par 11/genética , Feminino , Hamartoma/complicações , Hamartoma/genética , Humanos , Lactente , Masculino , Neoplasias/genética , Doenças Torácicas/complicações , Doenças Torácicas/genéticaRESUMO
We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degenerative abnormalities, macrocrania, frontal bossing, deep-set eyes, and hypertelorism. The brother also had Duane syndrome type II and an ectopic right ureter. The coexistence of these multiple physical and brain abnormalities in a brother and sister suggests a new autosomal recessive syndrome with a slowly progressive course.
Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Ponte/patologia , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/fisiopatologia , Pré-Escolar , Corpo Caloso/patologia , Anormalidades Craniofaciais/patologia , Anormalidades Craniofaciais/fisiopatologia , Deficiências do Desenvolvimento/patologia , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Genes Recessivos , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Deficiência Intelectual/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Tecido Nervoso/patologia , Núcleo Familiar , Ponte/anormalidades , SíndromeRESUMO
We have used miniature planar IR waveguides, consisting of Ge strips 30-50 microm thick and 2 mm wide, as evanescent-wave sensors to detect the mid-(IR) evanescent-wave absorbance spectra of small areas of biomolecular monolayers and multilayers. Examples include picomolar quantities of an integral transmembrane protein (bacteriorhodopsin) and lipid (dimyristoyl phosphatidylcholine). IR bands due to the protein and lipid components of the plasma membrane of individual 1.5-mm-diameter devitellinized Xenopus laevis oocytes, submerged in buffer and sticking to the waveguide surface, were also detected. A significant improvement in sensitivity was observed, as compared to previous sizes and geometries of evanescent-wave sensors (e.g., commercially available internal reflection elements or tapered optical fibers). These measurements suggest the feasibility of using such miniature supported planar IR waveguides to observe structural changes in transmembrane proteins functioning in vivo in single cells.
Assuntos
Membrana Celular/química , Espectroscopia de Infravermelho com Transformada de Fourier/métodos , Animais , Bacteriorodopsinas/química , Fenômenos Biofísicos , Biofísica , Dimiristoilfosfatidilcolina/química , Feminino , Técnicas In Vitro , Lipídeos de Membrana/química , Proteínas de Membrana/química , Oócitos/química , Xenopus laevisRESUMO
The transducin heterotrimer and its alpha- and beta gamma-subunits have been purified from frozen bovine rod outer segments by modifying existing procedures. The methods described here are relatively simple and fast. The yield (ca. 8 mgs/100 retinas) and purity of the transducin heterotrimer and subunits from frozen retinas is equal to or larger than those previously obtained from fresh or frozen retinas.
Assuntos
Segmento Externo da Célula Bastonete/química , Transducina/isolamento & purificação , Animais , Bovinos , Centrifugação com Gradiente de Concentração , Eletroforese em Gel de Poliacrilamida , CongelamentoRESUMO
The hemodynamic response to 50% nitrous oxide was studied in 12 sedated but responsive infants in the intensive care unit following repair of their congenital heart disease. One-half of the infants studied had an elevated pulmonary vascular resistance index (PVRI greater than 3.5 Wood units). During mechanical ventilation with a fractional inspired O2 concentration (FIO2) of 0.5, hemodynamic parameters were measured after equilibration with 50% nitrogen and then after 50% nitrous oxide. The sequence was repeated once to assure reproducibility of the responses. Average heart rate decreased by 9%, mean arterial blood pressure decreased by 12%, and cardiac index decreased by 13% in both the elevated and normal PVRI groups each time nitrous oxide was given. Although statistically significant, these changes would not generally be clinically important except in infants with severely compromised cardiovascular reserve. In contrast, pulmonary artery pressure and PVRI were not significantly changed by administration of 50% nitrous oxide in either the group with normal PVRI or the group with preexisting elevated PVRI. We conclude that while these mild depressant effects of nitrous oxide on systemic hemodynamics in infants are similar to those previously reported in adults, in infants nitrous oxide does not produce the elevations in pulmonary artery pressure and pulmonary vascular resistance seen in adults.
