RESUMEN
Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Arterial septal defect and patent ductus arteriosus were recognized using ultrasonography after birth. Major cerebral malformation such as holoprosencephaly or cerebellar hypoplasia were also not revealed. After 5 months of his age, artificial ventilation therapy for dyspnea associated with laryngomalacia was required. A tracheotomy was performed at 6 months of his age. After 12 years old, intractable partial epilepsy was recognized. For his partial seizures, a treatment with a combination of two anti-epileptic drugs, valproic acid and levetiracetam, were advised. Now he is alive for 14-years-old and he is the 4th longest surviving patient with full karyotype of trisomy 13.
Asunto(s)
Trastornos de los Cromosomas , Trisomía , Adolescente , Trastornos de los Cromosomas/complicaciones , Trastornos de los Cromosomas/diagnóstico por imagen , Cromosomas Humanos Par 13/diagnóstico por imagen , Conducto Arterioso Permeable/complicaciones , Conducto Arterioso Permeable/diagnóstico por imagen , Humanos , Cariotipo , Masculino , Sobrevivientes , Síndrome de la Trisomía 13Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Trasplante de Células Madre Hematopoyéticas , Trombocitopenia/genética , Trombocitopenia/terapia , Adolescente , Niño , Femenino , Expresión Génica , Heterocigoto , Humanos , Donadores Vivos , Masculino , Mutación Puntual , Hermanos , Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/terapia , Proteína del Síndrome de Wiskott-Aldrich/genética , Inactivación del Cromosoma XRESUMEN
This study was undertaken to clarify the morphological features in the blood capillary and elastic fibre distribution of the human skin in terms of susceptibility to pressure sore development. Skin tissues were obtained from bony areas: the sacrum and ischial tuberosity and non-bony area: the centre of the gluteus maximus of 5 aged subjects post mortem for examination using light and scanning electron microscopy. It was observed that the sacral skin had finger-like papillae and underneath the blood capillary loops were most numerous. In the ischial skin the dermal papillae consisted of a combination of finger-like and trapezoid shapes having moderate density of blood capillaries. In contrast, the dermal papillae in the gluteal skin were almost flat, so that the blood capillaries were scattered. The size of elastic bundles in the papillary layer of the sacral, ischial and gluteal skin ranged from 2 to 3 microns, 5 to 10 microns, and 3 to 5 microns, respectively. The elastic fibres were densely distributed in the ischial skin while less so in the sacral skin.
Asunto(s)
Capilares/anatomía & histología , Tejido Elástico/anatomía & histología , Úlcera por Presión/fisiopatología , Piel/irrigación sanguínea , Anciano , Autopsia , Humanos , Isquion/anatomía & histología , Isquion/irrigación sanguínea , Sacro/anatomía & histología , Sacro/irrigación sanguíneaRESUMEN
An ultra-thin, small sensor has recently been developed, "FlexiForce" (Tekscan, Boston, MA, USA), which may be effective for the measurement of low interface pressure between the skin, support surfaces and pressure garments. To evaluate the suitability of the sensor for these applications, drift, repeatability, linearity, hysteresis and curvature effects were tested under laboratory conditions. The drift was 1.7-2.5%/logarithmic time, the repeatability was 2.3-6.6% and the linearity was 1.9-9.9% in the range of forces of 10-50 g applied. The hysteresis was 5.4% on average. The output offset of the sensor increased with decreasing radius of curvature for radii less than 32 mm compared with a flat surface when no pressure was applied. The sensitivity to pressure decreased with curvature for radii less than 32 mm. It was found that the sensor had acceptable drift, repeatability, linearity and hysteresis. However, a significant curvature effect was observed indicating that the sensor is suitable for direct measurement on surfaces with the radii greater than 32 mm under static conditions.
Asunto(s)
Presión , Fenómenos Fisiológicos de la Piel , Vendajes , Quemaduras/terapia , Vestuario , Edema/terapia , Humanos , Reproducibilidad de los ResultadosRESUMEN
We induced apoptosis in cells of the human leukemia cell line HL-60 using an antitumor agent, docetaxel (Taxotere), and investigated apoptosis in various aspects using in situ end-labeling (ISEL) of DNA, DNA fragmentation assay, flow cytometry, and electron microscopy. Because it inhibits depolymerization of tubulin, docetaxel is thought to arrest the cell cycle at the mitotic stage and to exert an antitumor effect. In this study, accumulation of docetaxel-treated cells at the G2/M phase was detected using flow cytometry. On ISEL of DNA, DNA fragmentation was observed at the mitotic stage. On electron microscopy, the nuclei of apoptotic cells lost their nuclear membranes, as do cells at mitosis, demonstrating that the cells were arrested mainly at the M phase in the cell cycle.
RESUMEN
Pressure sore prevalence and incidence were assessed in 275 patients who were admitted to a well-staffed internal medicine ward during a 12-month study period or who were present on day 1. Pressure sore risk was assessed by use of the Braden scale and patients scoring 16 or less were provided with intensive preventive care. During the study period 5.1% (95% confidence interval 2.7-7.8) of 275 patients had pressure sores (prevalence) and 4.4% (1.9-6.9) developed sores (incidence). None of the 239 patients who were assessed as not being at risk developed a sore. 36 patients were assessed as being at risk at some time during the study and 12 of these developed sores despite receiving high-quality preventive care. The results suggest that not all pressure sores can be prevented in severely ill patients. We believe that the 4.4% incidence of sores in this study approaches the current limit of prevention.
Asunto(s)
Úlcera por Presión/prevención & control , Femenino , Hospitalización/estadística & datos numéricos , Humanos , Masculino , Úlcera por Presión/epidemiología , Prevalencia , Medición de Riesgo/métodosRESUMEN
We describe a 27-month-old boy who was first admitted to our hospital on 7 January 1995 with nasal bleeding. From 6 months of age he has had lymphadenopathy, low levels of serum uric acid, increased levels of serum lactate dehydrogenase and hyper gamma-globulinemia. From the age of 18 months he has had persistent Epstein-Barr virus (EBV) infection (target cells; B cells), recurrent episodes of thrombocytopenia, anemia and hepatosplenomegaly. Dysmobility of the left leg and arm from a central nervous system complication during a relapse with pancytopenia on March 1995, was also observed. Relapses of thrombocytopenia with increases of platelet-associated immunoglobulin G and hepatosplenomegaly have been observed approximately every 2 months, and two relapses of pancytopenia were accompanied with weak positivity of Coombs test and low level of haptoglobin. These recurrent episodes were improved with prednisolone. However, now in June 1997 we have not been able to diagnose what underlies the above clinical symptoms, except that the patient has a persistent EBV infection.
Asunto(s)
Infecciones por Herpesviridae/complicaciones , Herpesvirus Humano 4 , Enfermedades Linfáticas/complicaciones , Infecciones Tumorales por Virus/complicaciones , Ácido Úrico/sangre , Enfermedades del Sistema Nervioso Central/etiología , Preescolar , Hepatomegalia/complicaciones , Humanos , Hipergammaglobulinemia/complicaciones , Masculino , Pancitopenia/complicaciones , Recurrencia , Esplenomegalia/complicacionesRESUMEN
Mechanisms of skin break down in the development of human pressure sores are still unclear. This study was undertaken to clarify the morphological characteristics of the dermal papillae in the skin associated with pressure sores. Skin tissues were excised from the sacrum of a Japanese subject post mortem, where a superficial pressure sore had developed. Light microscopic and transmission and scanning electron microscopic examinations were performed. It was found that the atrophic, irregular contour and alignment of the dermal papillae were characteristic of the boundary area between healthy and damaged areas. In addition, a relatively dense network of collagen fibres in the papillary layer of the boundary area was observed when compared with the healthy area. These findings suggest that the morphological changes of the papillae observed in the boundary area affect microcirculation, impairing tissue viability by inhibiting nutritive blood supply and by accumulating metabolic byproducts which predispose to tissue damage.
Asunto(s)
Úlcera por Presión/patología , Piel/patología , Piel/ultraestructura , Anciano , Anciano de 80 o más Años , Cadáver , Femenino , Humanos , Microscopía Electrónica , Microscopía Electrónica de Rastreo , Úlcera por Presión/etiología , Factores de Riesgo , Piel/irrigación sanguíneaRESUMEN
Errors can occur in measuring blood content and oxygenation in subjects with significant skin pigmentation using reflectance spectrophotometry. The melanin in the epidermis not only reduces the amount of back-scattered light, but also has a characteristic absorption spectrum that varies between individuals. Skin color is primarily influenced by the concentration of melanin, blood content and oxygenation in the superficial microvasculature. A three-step process was developed empirically to accommodate the effect of melanin in the absorption spectrum of skin. A melanin index was developed and applied for each individual tested. Spectral components attributable specifically to melanin were subtracted from the measured spectrum, and its amplitude was normalized. This technique was tested with 26 able-bodied subjects with different levels of skin pigmentation. The melanin-compensated spectra from pigmented and caucasian skin were indistinguishable and no correlation was found between calculated values for indices of blood content and oxygenation, and melanin index.
Asunto(s)
Melaninas/metabolismo , Piel/irrigación sanguínea , Piel/metabolismo , Espectrofotometría/métodos , Algoritmos , Ingeniería Biomédica , Fenómenos Biofísicos , Biofisica , Humanos , Microcirculación/fisiología , Pigmentación de la Piel/fisiología , Espectrofotometría/instrumentaciónRESUMEN
This study was undertaken to determine whether the reactive hyperemia response following ischemia in spinal cord injured (SCI) individuals is different from that which occurs in able-bodied (AB) individuals. The reactive hyperemia response was produced by applying a pressure of 150 mmHg for 300 s, 600 s, and 900 s to the skin over the greater trochanter in 10 SCI and 10 AB subjects using a computer-controlled pneumatic indentation system. The changes in blood content and oxygenation in the superficial vessels of the skin, associated with indentation, were monitored using reflectance spectrophotometry. A brief pressure of 80 mmHg, to simulate finger pressing (blanching), was applied to the same site to detect changes in reflow behavior during the hyperemic period. The results indicate that the reactive hyperemia response in SCI group was not substantially different from AB group although the reflow rate after load release was slower in the SCI group compared with the AB group.
Asunto(s)
Hiperemia/fisiopatología , Úlcera por Presión/prevención & control , Fenómenos Fisiológicos de la Piel , Traumatismos de la Médula Espinal/fisiopatología , Adulto , Femenino , Humanos , Hiperemia/sangre , Masculino , Persona de Mediana Edad , Oxígeno/sangre , Úlcera por Presión/fisiopatología , Piel/irrigación sanguínea , Espectrofotometría , Traumatismos de la Médula Espinal/sangreRESUMEN
A pneumatic indentation system using a copper bellows has been developed for physiological studies where a controlled uniaxial compressive force is required to be applied to the surface of the skin. Such a system is useful for studies where the physiological response of the tissues is to be monitored following a known loading history. The indentation system is driven by a vacuum/compression pneumatic pump through solenoid valves under closed-loop computer control. A load cell placed between the indentor and bellows monitors the applied force providing a feedback signal to the computer. The signal from the computer activates the valves supplying air pressure to the bellows, and the applied force is controlled using a digital closed-loop protocol. This system can be used to provide a controlled loading sequence to the skin without utilizing gravitational forces, which allows the subject to keep a more natural position during the experiment.
Asunto(s)
Monitoreo Fisiológico/métodos , Úlcera por Presión/fisiopatología , Fenómenos Fisiológicos de la Piel , Diseño de Equipo , Humanos , Hiperemia/fisiopatología , Isquemia/fisiopatología , Monitoreo Fisiológico/instrumentación , Presión , Úlcera por Presión/prevención & control , Piel/irrigación sanguíneaRESUMEN
This work was carried out to evaluate the response of skin microcirculation to ischaemia in younger and older subjects, to determine if there were functional changes in microcirculation in the older skin. Skin perfusion during reactive hyperaemia was measured at volar sites on the forearms in five younger (mean age: 25.2 years) and five older normal subjects (mean age: 64.6 years). Ischaemia was produced by the application of loads of 22.3 N (24.5 kPa) and 44.5 N (49.0 kPa) applied to the skin surface for 3 min by means of a hollow cylindrical indentor. The skin perfusion within the area indented was continuously monitored by a laser Doppler flowmeter before, during and after loading. In the pre-loaded condition, there was no difference in skin perfusion between the younger and the older groups. Following loading with 22.3 N a significantly lower value of the peak perfusion relative to the pre-loaded value was observed in the older group (P less than 0.05). The perfusion in the older group following loading with 44.5 N was significantly reduced compared to the younger group (P less than 0.05). It is concluded that postischaemic reactive hyperaemia in the older skin was reduced compared with the younger skin.
Asunto(s)
Envejecimiento/fisiología , Circulación Sanguínea , Isquemia/fisiopatología , Piel/irrigación sanguínea , Adulto , Anciano , Antebrazo/irrigación sanguínea , Humanos , Persona de Mediana Edad , Valores de ReferenciaRESUMEN
This study was undertaken to seek biochemical indicators in blood associated with the onset of early tissue damage which may progress to the formation of a pressure sore. Changes in serum creatinine phosphokinase (CPK), inorganic phosphate, and lactate dehydrogenase in systemic blood of pigs were investigated before, during, and after local indentation. Pressures of 540mmHg and 700mmHg were applied for six hours on both sides of the scapula and backs of five anesthetized animals. Two hours after release of indentation, serum CPK levels showed marked elevation and remained elevated even after one week. The elevated levels of CPK were shown to correspond to defined pathology of the tissue as determined histologically. On the other hand, inorganic phosphate began to decrease after release of indentation and recovered to the preindentation level after one day. Lactate dehydrogenase did not change significantly throughout the experiment. These results offer important evidence of the potential of CPK as a systemic indicator of muscle damage at an early stage of pressure sore formation.
Asunto(s)
Creatina Quinasa/sangre , Úlcera por Presión/enzimología , Animales , L-Lactato Deshidrogenasa/sangre , Masculino , Músculos/patología , Fosfatos/sangre , Úlcera por Presión/patología , PorcinosRESUMEN
Much emphasis has been placed on the measurement of physical parameters at the body support interface in order to detect and moderate conditions which could result in pressure damage to soft tissues. Major difficulties are encountered both in the design of instrumentation and interpretation of the data collected. Metabolic processes in sweat glands that control sweat secretion have been shown to be sensitive to applied pressure, producing sweating rate suppression and changes in sweat NaCl concentration. In this study, we have demonstrated the feasibility of measuring lactate concentration in sweat collected locally using an electrochemical stimulation technique (iontophoresis of pilocarpine nitrate). Elevated levels of sweat lactate concentration during local tissue indentation were detected in a group of able-bodied subjects. Upon removal of the indentor, however, levels of sweat lactate returned to normal.
Asunto(s)
Isquemia/metabolismo , Piel/irrigación sanguínea , Sudor/metabolismo , Adulto , Femenino , Calor , Humanos , Hiperemia/etiología , Hiperemia/metabolismo , Isquemia/etiología , Lactatos/metabolismo , Masculino , Pilocarpina , Presión/efectos adversos , Úlcera por Presión/metabolismo , Sodio/metabolismoAsunto(s)
Defecación , Frecuencia Cardíaca , Consumo de Oxígeno , Postura , Cuartos de Baño , Adulto , HumanosAsunto(s)
Defecación , Frecuencia Cardíaca , Consumo de Oxígeno , Postura , Adulto , Femenino , Humanos , Atención de EnfermeríaRESUMEN
Experiments were performed in rabbits to evaluate the effects of varying degrees of external pressure on the venous circulation in a limb. For these studies, blood volumes and flow rates were determined on surgically exposed veins using a dropcounter. External compression of 30mmHg caused no impairment of the peripheral circulation. At this pressure, flow rates in the greater saphenous vein and popliteal vein were 74% and 124% of their basal rates, respectively. Venous blood flow was absent at pressures exceeding 70mmHg. In healthy human volunteers, the effects of external application of varying degrees of pressures with an elastic bandage during skin traction on the distal portion of the leg were evaluated by plethysmographic and thermometric techniques. Arterial pulsations obtained by photoelectric plethysmography at external limb pressures of 30mmHg were not significantly different in peak amplitude from those obtained without bandaging. External compression of 70mmHg resulted in a decrease in the basal amplitude at 60 minutes that persisted during the rest of the experiment. At 30mmHg compression, no significant changes of skin temperature were noted in the toe; but, at 70mmHg, the skin temperature dropped to 86% of its basal levels during the first hour followed by a further slow fall. Good immobilization of elastic bandages in skin traction was achieved at 30mmHg pressures. In a comparison of bandage application by skilled and unskilled persons, bandage pressures were much more likely to be optimum when the bandage was applied by the skilled.