RESUMEN
BACKGROUND: Pneumonia is a leading cause of childhood mortality globally. Children with severe pneumonia associated with hypoxaemia require oxygen (O2) therapy, which is scarce across resource-constrained countries. Solar-powered oxygen (SPO2) is a novel technology developed for delivering therapeutic O2 in resource-constrained environments. RESEARCH QUESTION: Is the introduction of SPO2 associated with a reduction in mortality, relative to the existing practice? STUDY DESIGN: This was a pragmatic, quasi-experimental study comparing mortality amongst children < 5 years of age with hypoxaemic respiratory illness before and after the installation of SPO2 in two resource-constrained hospitals. METHODS: Participants were children < 5 years old admitted with acute hypoxaemic respiratory illness. The intervention was SPO2, installed at two resource-constrained hospitals. The primary outcome was 30-day mortality. Secondary outcomes included in-hospital mortality (time to death), length of hospital stay among survivors, duration of O2 therapy (time to wean O2), and O2 delivery system failure(s). RESULTS: Mortality amongst children admitted with acute hypoxaemic respiratory illness decreased from 30/50 (60%) pre-SPO2 to 15/50 (30%) post-SPO2 (relative risk reduction 50%, 95%CI 19 - 69, p = 0.0049). The post-SPO2 period was consistently associated with decreased mortality in statistical models adjusting for potential confounding factors. Likewise, survival curves pre- and post- SPO2 differed significantly (hazard ratio 0.39, 95% CI 0.20 - 0.74, p = 0.0043). A reduction in the frequency of O2 delivery interruptions due to fuel shortages and multiple patients needing the concentrator at once was observed, explaining the mortality reduction. INTERPRETATION: Solar-powered oxygen installation was associated with decreased mortality in resource-constrained settings.
Asunto(s)
Oxígeno , Neumonía , Niño , Humanos , Preescolar , Oxígeno/uso terapéutico , Neumonía/terapia , Hipoxia/terapia , Hipoxia/complicaciones , Terapia por Inhalación de Oxígeno , HospitalizaciónRESUMEN
The effect of neonatal brain infection of herpes simplex virus type 1 (HSV-1) on the development of sensorimotor function in the rat was investigated using an acoustic startle paradigm. Intracerebral inoculation of HSV-1 at day 2 after birth, but not at day 4, caused a significant delay in the development of prepulse inhibition of acoustic startle. A decrease in prepulse inhibition was shown at 37, 46 and 58 days of age in these rats compared to control rats. No evidence was obtained for other behavioural dysfunctions such as differences in sensorimotor reactivity, sensorimotor response habituation, spontaneous locomotor activity, rearing activity or stereotyped behaviour. Prepulse inhibition of acoustic startle is an accepted model of sensorimotor gating in the CNS, a function which has been shown diminished in schizophrenic persons. The present results suggest that early viral infections during a neurone-susceptible period may contribute to the development of this deficit.
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Encéfalo/fisiopatología , Encéfalo/virología , Encefalitis por Herpes Simple/fisiopatología , Herpesvirus Humano 1/fisiología , Desempeño Psicomotor/fisiología , Esquizofrenia/fisiopatología , Esquizofrenia/virología , Factores de Edad , Animales , Animales Recién Nacidos , Peso Corporal/fisiología , Encéfalo/patología , ADN Viral/análisis , ADN Viral/metabolismo , Modelos Animales de Enfermedad , Encefalitis por Herpes Simple/patología , Femenino , Actividad Motora/fisiología , Inhibición Neural/fisiología , Neuroglía/patología , Neuroglía/virología , Neuronas/patología , Neuronas/virología , Reacción en Cadena de la Polimerasa , Embarazo , Ratas , Ratas Sprague-Dawley , Reflejo de Sobresalto/fisiología , Esquizofrenia/patología , Tasa de Supervivencia , Factores de Tiempo , Carga ViralRESUMEN
OBJECTIVES: To examine mercury (Hg) and selenium (Se) levels in autopsy samples from a thermometer worker who had been exposed over a long period to, and monitored for, mercury vapor. CASE REPORT: Hg and Se levels were determined using radiochemical neutron activation analysis in a worker who had commited suicide 4 weeks after the end of 14 years of exposure and in an unexposed age-matched referent. Histochemical staining of cerebellum was performed according to the method of Danscher and Schroder. RESULTS: The Hg concentrations (wet weight) were 25 microg/g in the kidney cortex, 1.2 microg/g in the liver, 0.72 microg/g in the lung, 0.025 microg/g in the testis, and 0.014-0.018 microg/g in the cerebellum (gray matter, dentate nucleus, and white matter). The Se level in the kidney cortex was high, 4.6 microg/g, whereas the concentration detected in the other tissue samples was normal. Light microscopy of the cerebellum was normal, and no histochemical staining for mercury was observed. Autopsy samples from the referent showed low Hg and Se levels consistent with other reports. CONCLUSIONS: The observed kidney-Hg, which was 50-100 times higher than that occurring in the general population, is in agreement with previous sparse data from ongoing occupational exposure. The high Se level detected in the kidney indicates coaccumulation with mercury. The low Hg concentration found in the cerebellum was unexpected, since some reports have shown much higher brain-Hg long after the cessation of exposure.
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Cerebelo/metabolismo , Riñón/metabolismo , Hígado/metabolismo , Pulmón/metabolismo , Mercurio/farmacocinética , Exposición Profesional , Testículo/metabolismo , Adulto , Cerebelo/patología , Humanos , Masculino , Análisis de Activación de Neutrones , Selenio/farmacocinética , Suicidio , Distribución TisularRESUMEN
BACKGROUND: A study was carried out to measure the displacement of retinal ganglion cells subserving the cones within the human fovea. METHODS: Four human retinas were examined along the nasal or vertical hemi-meridians. Total displacement was estimated by adding the displacement due to fibres of Henle and bipolar cells, measured as the lateral extension of the Henle fibres and of the obliquely running fibre bundles within the inner nuclear layer, respectively. RESULTS: At the foveal border (0.5-0.8 mm or 1.8-2.9 deg eccentricity) the mean offset due to fibres of Henle and mean total lateral displacement was at a maximum of 0.32 +/- 0.03 mm and 0.37 +/- 0.03 mm, respectively. A steep decrease of displacement was found outside the foveal border out to an eccentricity of 2.0-2.5 mm. We were able to plot displacement along the vertical meridian in relation to eccentricity with good correlation between three eyes. The data were used to establish different mathematical functions describing the relation between eccentricity and displacement. These functions were applied to previously presented data on densities of retinal ganglion cells and cones. CONCLUSIONS: The present estimates of displacement within the human central fovea offer the possibility of analysis of quantitative relations between cones and retinal ganglion cells. Our data provide predictive guidance by establishing that vitreo-retinal procedures causing damage to retinal ganglion cells up to 1 mm from the foveal centre could have implications for loss of information generated within the fovea.
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Fóvea Central/citología , Células Fotorreceptoras Retinianas Conos/citología , Células Ganglionares de la Retina/citología , Adulto , Anciano , Recuento de Células , Humanos , Técnicas In Vitro , Rayos Láser/efectos adversos , Persona de Mediana Edad , Modelos Teóricos , Pronóstico , Escotoma/etiología , Escotoma/patologíaRESUMEN
For an understanding of the basis for psychophysical measurement of visual resolution, quantitative morphological studies of retinal neuronal architecture are needed. Here we report on cell densities and retinal ganglion cell:cone ratio (RGC:C) from the foveal border to the peripheral retina (34 degrees eccentricity). Quantitative estimates of RGC and C densities were made using a modified disector method in three vertically sectioned human retinae and were adjusted for RGC displacement. In agreement with our previous data on humans, we found an RGC:C ratio close to 3 at 2-3 degrees eccentricity. Outside the foveal border, the ratio declined to 1.0 at 7.5 degrees eccentricity and to 0.5 at eccentricities larger than 19 degrees. Center-to-center separation of C and RGC in addition to center-to-center separation of estimated 'receptive fields' was calculated at corresponding locations along the superior and inferior hemimeridians. The center-to-center separation of estimated 'receptive fields' was found to be more closely related to resolution thresholds from the fovea to 19 degrees eccentricity than was the separation of RGC and C. On the basis of these quantitative estimates, models for neural circuitry involved in central and peripheral spatial vision can be discussed.
Asunto(s)
Fóvea Central/citología , Recuento de Células , Humanos , Células Fotorreceptoras Retinianas Conos/citología , Células Ganglionares de la Retina/citología , Células Fotorreceptoras Retinianas Bastones/citología , Percepción Espacial/fisiología , Campos Visuales/fisiologíaRESUMEN
BACKGROUND: Children with carbohydrate-deficient glycoprotein syndrome type I during infancy have gastrointestinal symptoms and growth impairment, the cause of which is largely unknown. METHODS: Seven children were investigated with small intestinal biopsy, liver biopsy, duodenal intubation with determination of lipolytic and proteolytic activity, and test meal. Weight, length-height, and head circumference were recorded regularly. RESULTS: Growth was affected from early infancy, with an initial low rate of weight gain followed by impaired linear growth. Vomiting and diarrhea were dominant symptoms. Four of seven children had abnormal findings in light microscopic examination of small intestinal biopsy specimens, with short villi and increased inflammatory cells in the stroma, that did not respond to elimination of such food proteins as cow's milk or gluten. Electron microscopic study showed dilatation of smooth endoplasmic reticulum and abnormal inclusions containing lipids. The liver was abnormal in all. Besides steatosis and fibrosis or cirrhosis, there was a remarkable increase of inflammatory cells in portal zones. Activity of lipolytic enzymes in duodenal juice was low, except in one child, who no longer had growth problems or symptoms. Two of six had abnormal proteinolytic activity in duodenal juice. Digestion of triglycerides and absorption were within normal limits, as was the absorption of glucose and xylose. CONCLUSIONS: Inflammation of small intestine and liver may be the cause of gastrointestinal symptoms. In all likelihood, the growth failure was because of low caloric intake and increased losses related to vomiting. Growth and gastrointestinal symptoms improved spontaneously as time elapsed.
Asunto(s)
Trastornos Congénitos de Glicosilación/fisiopatología , Intestinos/fisiopatología , Hígado/fisiopatología , Páncreas/fisiopatología , Biopsia , Preescolar , Trastornos Congénitos de Glicosilación/patología , Trastornos Congénitos de Glicosilación/terapia , Diarrea/etiología , Ingestión de Energía , Nutrición Enteral , Femenino , Alimentos , Trastornos del Crecimiento/etiología , Humanos , Lactante , Mucosa Intestinal/patología , Intestino Delgado/patología , Hígado/patología , Masculino , Microscopía Electrónica , Valores de Referencia , Vómitos/etiologíaRESUMEN
Pericardial effusions were found in 6 of 10 children with carbohydrate-deficient glycoprotein syndrome type I (CDGS-I). In three cases pericardectomy was necessary. Blood concentrations of several glycoproteins and albumin were low. Similar abnormal isoforms of four glycoproteins were found in blood (B) and pericardial fluid (PF). There was a significant negative correlation between the mean concentration ratio PF/B and the molecular mass (MW) of 11 proteins. For proteins with MW < 100 kDa there were significant correlations in the controls, but not in the patients, between the PF/B ratio and both the MW and the sialic acid contents in the (glyco-)proteins. The pericardium exhibited focal mixed inflammatory changes with mesothelial proliferation, with widened endoplasmic reticulum and flocculent and/or lamellated material. Damage to a pericardial protein barrier is suggested to be involved in pericardial effusion in CDGS-I.
Asunto(s)
Trastornos Congénitos de Glicosilación/complicaciones , Derrame Pericárdico/etiología , Adolescente , Adulto , Niño , Preescolar , Trastornos Congénitos de Glicosilación/patología , Femenino , Humanos , Masculino , Miocardio/patologíaRESUMEN
Post-mortem morphological, neuropathological and neurochemical findings are described in a girl, aged 14 months, with the early-infantile form of galactosialidosis. An elevation in non-lipid sialic acid was noted in both the grey and white matter of the brain, whereas the white matter displayed a clear reduction in all the major lipids. Multiple cortical-subcortical infarctions were found in the brain, most probably caused by compromised circulation due to endothelial luminal encroachment. Electron microscopy of cerebral blood vessels revealed major swelling of the endothelium due to prominent cytoplasmic vacuolisation. Multiple cytoplasmic vacuoles containing sparse granular or membranous matter were also seen in neurons and glial cells of the brain and spinal cord. Zebra bodies were found in the Purkinje cells, as well as in the spinal anterior horn cells. Prominent endothelial vacuolisation was noted in the liver and kidneys. The renal vascular encroachment was probably the cause of the arterial hypertension with elevated plasma renin activity in the present case. There were innumerable fine vacuoles in the renal epithelium and in the Kupffer cell of the liver, whereas coarser vacuoles were observed in the hepatocytes. The neuronal ultrastructural findings in the present case bear some resemblance to the few reported cases of late-infantile and adult cases of galactosialidosis. The prominent endothelial vacuolisation and focal cerebrovascular lesions, that have not previously been described in galactosialidosis, may be features specific to the rapidly progressive early-infantile form.
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Infarto Cerebral/metabolismo , Infarto Cerebral/patología , Enfermedades por Almacenamiento Lisosomal/metabolismo , Enfermedades por Almacenamiento Lisosomal/patología , Encéfalo/ultraestructura , Carboxipeptidasas/metabolismo , Catepsina A , Femenino , Gangliósidos/análisis , Humanos , Inmunohistoquímica , Recién Nacido , Recien Nacido Prematuro , Lípidos/análisis , Neuraminidasa/metabolismo , Embarazo , Vísceras/metabolismo , Vísceras/ultraestructura , beta-Galactosidasa/metabolismoRESUMEN
Nulliparous pregnant Sprague-Dawley rats were exposed to ethanol via a liquid diet technique (FAE, fetal alcohol exposure) or administered a fixed amount of control diet from gestational day 11 to day 21. The offspring, at 2-3 months of age, were studied in tests of mechanically monitored motor activity and learning acquisition in an automatized testing cage requiring an instrumental discriminative response, where the ability to learn and relearn correlations of a light signal to water presentation was monitored. A significantly reduced activity (i.e. ramp mounting behaviour) in a novel situation was obtained in the FAE group compared to controls. The initial disruption of ramp mounting behaviour could reflect alterations in either habituation to a novel test situation, altered neophobia, or some retardation in associating these responses with the outcome of water-availability. Adult FAE rats (six months of age) showed a tendency towards a lowered acquisition performance (p = 0.06) when tested in a circular Morris-type swim maze, but no detectable differences were shown in a motor activity test chamber situation.
Asunto(s)
Depresores del Sistema Nervioso Central/toxicidad , Etanol/toxicidad , Aprendizaje/efectos de los fármacos , Actividad Motora/efectos de los fármacos , Efectos Tardíos de la Exposición Prenatal , Teratógenos/toxicidad , Envejecimiento/fisiología , Animales , Peso al Nacer/efectos de los fármacos , Discriminación en Psicología/efectos de los fármacos , Ingestión de Alimentos/efectos de los fármacos , Femenino , Aprendizaje por Laberinto/efectos de los fármacos , Embarazo , Ratas , Ratas Sprague-DawleyRESUMEN
BACKGROUND & AIMS: Nitric oxide is synthesized from L-arginine and is metabolized to nitrate and nitrite. This study evaluates the effects of a pharmacological blockade of NO synthesis on fluid transport by the inflamed gallbladder mucosa. METHODS: Experiments were performed in cats with cholecystitis and in control animals. NO synthase activity was measured in gallbladder tissue; the enzyme was characterized by immunoblotting techniques and localized by immunofluorescence. Fluid transport and release of nitrate and nitrite by the gallbladder mucosa and bile and bile salt secretion from the liver were registered simultaneously in vivo. RESULTS: Fluid secretion in inflamed gallbladders was reversed to a net absorption in response to the NO synthase blockers N omega-nitro-L-arginine and aminoguanidine, and formation of nitrate was reduced. The effects were reversed by L-arginine. Increased levels of inducible NO synthase in inflamed gallbladders were shown by immunoblotting, by immunofluorescence (mainly in macrophages), and by Ca(2+)-independent [3H]citrulline formation from [3H]arginine. The NO synthase blockers had no effect on gallbladder fluid transport in normal gallbladders. CONCLUSIONS: Increased levels of inducible NO synthase activity are shown in inflamed gallbladders, and a pharmacological blockade of this enzyme blocks fluid secretion and decreases nitrate release from the mucosa.
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Líquidos Corporales/metabolismo , Colecistitis/fisiopatología , Vesícula Biliar/metabolismo , Óxido Nítrico/fisiología , Análisis de Varianza , Animales , Arginina/análogos & derivados , Arginina/farmacología , Bilis/metabolismo , Ácidos y Sales Biliares/metabolismo , Gatos , Colecistitis/enzimología , Colecistitis/metabolismo , Inhibidores Enzimáticos/farmacología , Vesícula Biliar/enzimología , Guanidinas/farmacología , Inmunohistoquímica , Membrana Mucosa/enzimología , Membrana Mucosa/metabolismo , Nitratos/metabolismo , Óxido Nítrico Sintasa/antagonistas & inhibidores , Óxido Nítrico Sintasa/metabolismo , NitroargininaRESUMEN
Effects of chronic ethanol exposure on synapse-to-neuron ratio in the rat lateral geniculate nucleus were investigated. Male Sprague-Dawley rats were exposed to ethanol, using the Lieber-DeCarli liquid diets, for 4 months starting at the age of 5 weeks. Brains were perfusion-fixed, and the region containing the dorsal lateral geniculate nucleus was cut into slabs (500 microns thick) that were epoxy resin-embedded. From each rat, three slabs containing the structure were serially sectioned for electron microscopy. Using the double disector method, the study shows an unaltered synapse-to-neuron ratio in ethanol-treated rats when compared with controls. The findings are in agreement with previous studies on the visual system using the same exposure model. In contrast, a previous study has shown that the synapse-to-neuron ratio in locus ceruleus of ethanol-treated rats is reduced by 50%. Other studies have shown that, whereas the glutamatergic NMDA receptor is very sensitive to ethanol, the kainate/AMPA type of receptor is very much less so. Thus, the difference in ethanol-induced synapse elimination between the two regions may reflect this different sensitivity of the glutamatergic receptors, which are of the kainate/AMPA type in the lateral geniculate nucleus and of the NMDA type in the locus ceruleus.
Asunto(s)
Alcoholismo/patología , Cuerpos Geniculados/patología , Neuronas/patología , Sinapsis/patología , Animales , Etanol/toxicidad , Cuerpos Geniculados/efectos de los fármacos , Masculino , Microscopía Electrónica , Degeneración Nerviosa/efectos de los fármacos , Neuronas/efectos de los fármacos , Ratas , Ratas Sprague-Dawley , Receptores de Glutamato/efectos de los fármacos , Valores de Referencia , Sinapsis/efectos de los fármacos , Vías Visuales/efectos de los fármacos , Vías Visuales/patologíaRESUMEN
A study was performed on the visual-evoked response (VER) in adult rats that were given an ethanol containing liquid diet for 2 months and examined directly after the exposure period or subjected to a gradual decrease in ethanol over 3 days and total abstinence for 1 week. Control rats showed a first negative peak (N1) directly following the first positive peak (P1). In ethanol-exposed rats examined without withdrawal, the VER showed an increase in onset latency and a marked distorsion of the N1 region. The existing N1 potential was very sensitive to high-frequency stimulation. The alterations were partly normalized 1 week after withdrawal. There was no increase in latency to onset of the response or to P1. There remained an increase of latency and a reduced relative amplitude upon high-frequency stimulation of the N1 peak in ethanol-exposed rats compared with controls. The mechanisms underlying the changes in the cortical potentials are not clear, but they may be related to the cholinergic, glutamatergic/NMDA and/or noradrenergic cortical systems. The lack of persistent changes in onset and P1 latency may be related to the circumstance that the retinogeniculate impulses are transmitted over glutamatergic kainate receptors, which are relatively resistant to ethanol.
Asunto(s)
Alcoholismo/fisiopatología , Electroencefalografía/efectos de los fármacos , Etanol/toxicidad , Potenciales Evocados Visuales/efectos de los fármacos , Intoxicación Alcohólica/fisiopatología , Animales , Potenciales Evocados Visuales/fisiología , Masculino , Ratas , Ratas Sprague-Dawley , Tiempo de Reacción/fisiología , Síndrome de Abstinencia a Sustancias/fisiopatología , Transmisión Sináptica/efectos de los fármacos , Transmisión Sináptica/fisiología , Corteza Visual/efectos de los fármacos , Corteza Visual/fisiopatologíaRESUMEN
Published studies on humans and monkeys show discrepancies in the reported quantitative relationship between cones (C) and ganglion cells (G). Data on human foveal retina suggest that it cannot accommodate the midget on-off system in addition to other functional channels. Foveal cell densities along the vertical meridian (0-1.8 mm eccentricity) were estimated in one normal human retina using the disector method. Cell ratios were calculated from cumulative total numbers. G density peaked at 0.65 mm eccentricity and C density at the foveola. Cumulative cell numbers showed a more rapid increase in G than in C with increasing eccentricity. G/C ratios of 2.7-3.4 were found using lateral displacement data modified from macaque. Using one estimate of displacement from the sections, the G/C ratio was 3.0. This study shows that there are on average three ganglion cells per foveal cone in humans, as in monkeys.
Asunto(s)
Fóvea Central/citología , Células Fotorreceptoras Retinianas Conos/citología , Células Ganglionares de la Retina/citología , Adulto , Recuento de Células , Humanos , MasculinoRESUMEN
Infection of the CNS by herpes simplex type 1 (HSV-1) via the trigeminal route to the brain stem was elucidated in a rat model. In contrast to the earlier described cortical and hippocampal infection after intracranial injection, the CNS showed a profound resistance to HSV-1 infection when the virus was administered by nose inoculation, as judged by histopathology and immunohistochemistry. In contrast, when the distribution of HSV-1 in the brain was investigated after nose inoculation by polymerase chain reaction, viral DNA was detected at all levels from the ganglia to the cortex. When replication of HSV-1 was assayed in primary cell cultures of rat astrocytes derived from brain stem, striatum, hippocampus and cerebral cortex, significantly lower virus yields were obtained in brain stem-derived astrocytes cultures as compared with in cortex-derived astrocytes. This finding was independent of whether HSV-1 strains used originated from brains of patients suffering from herpes simplex encephalitis or from patients with oral cutaneous lesions and lacking neurological symptoms. Also, by immunocytochemistry of cultures after HSV-1 infection, a lower number of plaques were seen in brain stem-derived astrocytes as compared with cortex-derived astrocytes. The observed relative resistance of brain stem-derived astrocytes to replicate HSV-1 might contribute to the ability of the brain stem to withstand infection during reactivation of this virus in the trigeminal neurons.
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Tronco Encefálico/microbiología , Sistema Nervioso Central/inmunología , Herpes Simple/transmisión , Animales , Astrocitos/metabolismo , Astrocitos/microbiología , Tronco Encefálico/patología , ADN/metabolismo , Susceptibilidad a Enfermedades , Herpes Simple/microbiología , Herpes Simple/patología , Inmunohistoquímica , Nariz/microbiología , Reacción en Cadena de la Polimerasa , Ratas , Ratas Sprague-Dawley , Simplexvirus/fisiología , Replicación ViralRESUMEN
An automated method for testing visual discrimination with water reinforcement using a modified residential Y-maze is described. The visual stimulus is presented above one of two water holes. Rats have been tested with different lengths of water periods and different intervals between the periods. During the 10 days of testing, overall activity decreased. Activity on the initial days was low during daytime, with few drinking attempts. Discrimination learning acquisition was measured as the increase in the percentage of water periods with drinking attempts in which the first attempt occurred on the correct side, and/or as the increase in the number of correct drinking attempts as a percentage of all drinking attempts. Acquisition was observed both when light indicated water and when it indicated no water. This test model may offer a useful method for standardized measurement of left/right, light on/off discriminations.
Asunto(s)
Condicionamiento Operante , Aprendizaje Discriminativo , Microcomputadores , Psicofisiología/instrumentación , Percepción Visual , Estimulación Acústica/instrumentación , Animales , Ingestión de Líquidos , Actividad Motora , Orientación , Estimulación Luminosa/instrumentación , Ratas , Esquema de RefuerzoRESUMEN
A patient with early infantile galactosialidosis presenting as congenital adrenal hyperplasia with clitoral hypertrophy and arterial hypertension is reported. Serum 17-alpha-OH-progesterone and plasma renin levels were elevated. Adrenal hyperplasia and thickening of the cardiac septum were detected by sonography; however, progressive hepatosplenomegaly, increasingly coarse features, and vacuolization of bone marrow and liver cells suggested a storage disorder. Combined deficiency of beta-galactosidase and sialidase enzyme activity in both lymphocytes and cultured fibroblasts was detected. This patient with early infantile galactosialidosis is the first reported who presented with congenital adrenal hyperplasia.
Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Hipertensión Renal/genética , Enfermedades por Almacenamiento Lisosomal/genética , Ácidos Siálicos/metabolismo , Hiperplasia Suprarrenal Congénita/patología , Encéfalo/patología , Femenino , Humanos , Hipertensión Renal/patología , Lactante , Macrófagos del Hígado/patología , Enfermedades por Almacenamiento Lisosomal/patología , Imagen por Resonancia Magnética , Vaina de Mielina/patología , Neuraminidasa/deficiencia , beta-Galactosidasa/deficienciaRESUMEN
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52-95M1 (locus D16S148) and pCJ52-94T1 (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.
Asunto(s)
ADN/análisis , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Diagnóstico Prenatal/métodos , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Lipofuscinosis Ceroideas Neuronales/genética , Polimorfismo de Longitud del Fragmento de Restricción , EmbarazoRESUMEN
Effects of chronic ethanol exposure on the synapse-to-neuron ratio of rat locus ceruleus were investigated. Male Sprague-Dawley rats were given an ethanol-containing liquid diet for 4 months starting at an age of 5 weeks. Littermates, given isocaloric amounts of an ethanol-free diet, served as control. The animals were perfusion fixed using a mixture of glutaraldehyde and paraformaldehyde. Synapse-to-neuron ratio was estimated by the double disector method and calculated from (Ns/A) x (Nsec -1) / (Nn/A) where Ns/A is the number of synapses per unit area estimated in a disector with a height of on section and Nsec -1 is height of the disector, i.e., the number of sections, used for estimating the number of neurons per area (Nn/A). The mean estimated synapse-to-neuron ratio was 2046 +/- 544 (SD) in ethanol-fed rats and 4291 +/- 1171 (SD) in control rats. The difference is statistically significant (p < 0.05). The finding may be of relevance for understanding the development of abuse, tolerance, drug dependence, and abstinence reactions.
Asunto(s)
Alcoholismo/patología , Locus Coeruleus/efectos de los fármacos , Sinapsis/efectos de los fármacos , Animales , Recuento de Células/efectos de los fármacos , Locus Coeruleus/patología , Masculino , Neuronas/efectos de los fármacos , Neuronas/patología , Ratas , Ratas Sprague-Dawley , Sinapsis/patologíaRESUMEN
Unbiased estimates of the cell density of the ganglion cell layer (GCL) were made by the Disector method, and the topography of the nerve fibre layer (NFL) between the centre of the fovea and the optic disc was studied, in human retina under both normal and pathological conditions. Three human retinae were examined, the eyes having been removed in the course of cancer surgery. Before operation two of the patients had visual acuity within normal limits. The third patient had impaired vision. In the two normal retinae, the cell densities of the GCL in the foveal wall were approximately 60,000/mm2. Estimates were also made outside the fovea and these showed a progressive reduction in cell density from the foveal wall towards the optic disc. The NFL simultaneously increased in thickness to approximately 70-100 microns at the peripapillary border. At 4 deg eccentricity nasal to the fovea the majority of axons had a mean diameter of less than 0.42 microns. Closer to the optic disc, the number of large axons increased in the inner parts of the NFL. In the third eye with long- and short-term visual impairment there was a substantial cell loss in the GCL, with only some 15,000 cells/mm2 in the foveal wall. In spite of cell/axon loss the thickness of the NFL was increased due to axonal swelling.
Asunto(s)
Fóvea Central/patología , Retina/patología , Células Ganglionares de la Retina/patología , Adulto , Anciano , Recuento de Células , Neoplasias del Ojo/cirugía , Femenino , Fóvea Central/citología , Humanos , Masculino , Neoplasias Maxilares/cirugía , Fibras Nerviosas , Retina/citología , Células Ganglionares de la Retina/citología , Trastornos de la Visión/patologíaRESUMEN
The effects of chronic ethanol exposure on number and calibres of optic nerve axons (and number of retinal ganglion cells) were investigated in a rat model. Male Sprague-Dawley rats were fed a liquid, ethanol-containing diet for 5, 10 and 17 weeks with littermates given isocaloric amounts of ethanol-free diet serving as controls. After fixation by perfusion, the optic nerves were imbedded in epoxy resin and sectioned for electron microscopy. Systematic random sampling was made from a cross-shaped area over the nerve. Axons within a counting frame were counted and morphometrically categorized with regard to mean diameter and the total number of axons estimated from number per area and the cross-sectional area of the nerve, which was measured using a digitizer table. According to non-parametric statistical analysis, ethanol exposure resulted in a significant reduction in mean cross-sectional area of the optic nerve and in mean axonal calibre but not in total axonal number in the ethanol-treated rats but there was no significant effect of duration of the exposure. The mean cross-sectional area of the nerve was reduced by 9%, 10% and 18% after 5, 10 and 17 weeks of exposure, respectively. The reduction in cross-sectional area appeared to be related to a proportional reduction in axonal and myelin area fractions. The findings indicate that chronic ethanol exposure results in decreased axonal calibres without axonal loss. This also implies that there is no reduction in the number of retinal ganglion cells.