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OBJECTIVE: To evaluate, how participation in structured diabetes self-management education (DSME) programs is associated with perceived level of knowledge about diabetes, information needs, information sources and disease distress. METHODS: We included 796 ever- and 277 never-DSME participants of the population-based survey "Disease knowledge and information needs - Diabetes mellitus (2017)" from Germany. Data on perceived level of diabetes knowledge (12 items), information needs (11 items), information sources (13 items) and disease distress (2 indices) were collected. Multiple logistic regression analyses were used to examine the association of DSME-participation with these outcomes. RESULTS: DSME-participants showed a higher level of diabetes knowledge compared to never-DSME participants, particularly in aspects concerning diabetes in general (odds ratio 2.53; 95% confidence intervals 1.48-4.33), treatment (2.41; 1.36-4.26), acute complications (1.91; 1.07-3.41) and diabetes in everyday life (1.83; 1.04-3.22). DSME-participants showed higher information needs regarding late complications (1.51; 1.04-2.18) and acute complications (1.71; 1.71-2.48) than DSME never participants. DSME-participants more frequently consulted diabetologists (5.54; 3.56-8.60) and diabetes care specialists (5.62; 3.61-8.75) as information sources. DSME participation was not associated with disease distress. CONCLUSION: DSME is a valuable tool for improving individual knowledge about diabetes. However, DSME should focus more on psychosocial aspects to reduce the disease burden.
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Diabetes Mellitus Tipo 2 , Diabetes Mellitus , Automanejo , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiología , Diabetes Mellitus/terapia , Diabetes Mellitus Tipo 2/terapia , Escolaridad , Conductas Relacionadas con la Salud , Humanos , Autocuidado/métodosRESUMEN
Cosmogenic radiosulfur (35S; half-life: 87.4 days) is transferred with the rain to the groundwater (as 35SO42-) and can be used as residence time tracer for the detection of sub-yearly groundwater residence times. Due to the distinct but non-regular annual 35S pattern in precipitation, related data evaluation requires consideration of a35S input function that is based on representative rain samples. While minor rain events can easily be sampled quantitatively and hence representatively, a long-lasting rain event may get documented by a sample that represents only a certain sequence of the event, thus potentially resulting in a35S activity concentration that might not be representative. With the aim to examine the magnitude of temporal variations of the 35S activity concentration in rain during long-lasting rain events, we present and discuss two related exemplary 35S time series. Furthermore, we evaluate the applicability of the parameters total sulfate and electrical conductivity (EC), both detected in rainwater as easily attainable 35S proxies. The results of the study show (i) that the 35S activity concentration may vary substantially during long-lasting rain events due to atmospheric migration processes and aerosol washout and (ii) that neither sulfate nor EC are suitable as 35S proxies due to the different origin of 35S on the one hand and sulfate/EC on the other. Hence, for the determination of a35S activity concentration that is representative for a long-lasting rain event 35S analyses of an adequate number of sub-samples cannot be avoided.
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Agua Subterránea , Monitoreo de Radiación , Aerosoles/análisis , Monitoreo del Ambiente , Lluvia , SulfatosRESUMEN
INTRODUCTION: The ciliopathy "Joubert syndrome" was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and retardation. A pathognomonic midbrain-hindbrain malformation, the molar tooth sign, can be found on magnetic resonance imaging of the brainstem. There are a little more than 200 reports of Joubert syndrome in the literature. CASE PRESENTATION: We report a case of a 9-year-old boy who developed a progressive hydrocephalus starting from the age of 4. He underwent VP shunt placement at 8 years, which relieved hydrocephalus-related clinical symptoms and put development of the macrocephalus to a halt. CONCLUSION: Neonatal hydrocephalus due to the altered anatomy of the posterior fossa has been reported earlier, but to our knowledge, this is the first case of a delayed onset of hydrocephalus in a patient with Joubert syndrome.
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Cerebelo/anomalías , Anomalías del Ojo/complicaciones , Hidrocefalia/etiología , Enfermedades Renales Quísticas/complicaciones , Retina/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Cerebelo/diagnóstico por imagen , Niño , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Estudios de Seguimiento , Humanos , Hidrocefalia/diagnóstico por imagen , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/genética , Imagen por Resonancia Magnética , Masculino , Mutación/genética , Proteínas/genética , Retina/diagnóstico por imagenRESUMEN
The present guideline is a new version and an update of the guideline for the diagnosis and treatment of asthma, which replaces the previous version for german speaking countries from the year 2006. The wealth of new data on the pathophysiology and the phenotypes of asthma, and the expanded spectrum of diagnostic and therapeutic options necessitated a new version and an update. This guideline presents the current, evidence-based recommendations for the diagnosis and treatment of asthma, for children and adolescents as well as for adults with asthma.
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Asma/diagnóstico , Asma/terapia , Asma/clasificación , Asma/etiología , Austria , Alemania , Humanos , Pronóstico , Factores de Riesgo , Sociedades MédicasRESUMEN
Skeletons from three Danish cemeteries, Sortebrødre, Tirup, and St. Mikkel, that collectively held 822 adults (>15 years) and spanned the medieval to early modern periods (ca. AD 1100-1610) show that men, in general, experienced more bone fractures than women. Men were three times more likely to have healed cranial vault and ulnar shaft fractures than women, with many of these bones presumably broken in interpersonal violence. More women, however, broke distal radii, presumably often the result of falls. Both sexes suffered more cranial fractures than modern Danes, with the proportional difference for men and women being about the same. The difference in cranial trauma frequencies between historic-period and modern Danes has implications for a decline over the past several centuries in interpersonal violence that scholars in other disciplines have inferred from historical sources.
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BACKGROUND: After a first afebrile seizure, EEG in addition to cMRI is recommended for pediatric patients. Once indications requiring immediate treatment are excluded, it is of interest to determine if the results provide a prognostic tool for seizure relapses. METHODS: Patients aged between 1 month and 18 years who had a first afebrile seizure between 2006 and 2008 were retrospectively studied and monitored for another 48 months. RESULTS: Out of 248 patients, 62.5% had generalized and 36.3% focal seizures. 34.7% of the EEG results were pathological. 176 patients had a cMRI that showed in 23.3% probable epileptogenic lesions. 3 patients with benign cerebral tumours needed surgical therapy. In the following 48 months 29.4% of the children showed seizure relapses. There was a correlation between epileptic patterns in the EEG and further seizures (p=0.0001). However, the sensitivity of the EEG based diagnoses was 0.6, the specificity 0.78 and the positive predictive value 0.52. There was no correlation between epileptogenic lesions and the probability of seizure relapses. The sensitivity of the cMRI to this effect was 0.36, the specificity 0.74 and the positive predictive value 0.34. DISCUSSION: The EEG is superior to cMRI for predicting seizure relapses. The percentage of noticeable cMRI findings is high but this has low therapeutic relevance and is assumed to largely represent "incidental findings". It is important to question the value of MRI investigations for sedated small children except in the case of emergencies. The key question is whether the cMRI should be deployed to diagnose epilepsy, the probability of seizure recurrences or to classify the entity of a most likely epilepsy.
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Encefalopatías/diagnóstico , Encefalopatías/fisiopatología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/fisiopatología , Encéfalo/patología , Encéfalo/fisiopatología , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Imagen por Resonancia Magnética , Convulsiones/etiología , Adolescente , Niño , Preescolar , Femenino , Humanos , Hallazgos Incidentales , Lactante , Masculino , Valor Predictivo de las Pruebas , Recurrencia , Estudios Retrospectivos , Medición de RiesgoRESUMEN
BACKGROUND: The prevalence of chronic headaches in children and adolescents is up to 2â% resulting in the beginning of the later typical headache careers of adults. The therapy for chronic migraine with botulinum toxin is now established in adults. However, there is only limited experience in the use of botulinum toxin in paediatric patients. METHODS: 10 patients aged 13â-â17 years who suffered from chronic migraine according to the IHS criteria were injected at 31 specific injection points of the head and neck muscles with a total amount of 150 IE of botulinum toxin A (Botox®) according to the approved scheme. The number of headache days per month over the following 9 months was recorded and side effects were retrospectively determined. RESULTS: The responder rate (that is reduction of headache days per month more than 50â%) was 7/10âat three months after the injection. On average the number of headache days per month was reduced from 19.2 days to a minimum of 10.1 days. After three to six months the number of headache days increased again in all responders. Slight local side effects such as redness or temporary pain were observed in all patients, but severe side effects such as infections, fever, ptosis or allergic reactions did not occur. DISCUSSION: This small case series shows that the therapy for chronic migraine with botulinum toxin A can also be effective and safe in adolescents. As many adolescents still suffer from headaches later as adults a link between neuropaediatricians and neurologists is justifiable. An early botulinum toxin therapy followed by the transition of the adolescents would be helpful.
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Toxinas Botulínicas Tipo A/uso terapéutico , Trastornos Migrañosos/tratamiento farmacológico , Fármacos Neuromusculares/uso terapéutico , Adolescente , Antagonistas Adrenérgicos beta/uso terapéutico , Toxinas Botulínicas Tipo A/administración & dosificación , Toxinas Botulínicas Tipo A/efectos adversos , Enfermedad Crónica , Femenino , Fructosa/análogos & derivados , Fructosa/uso terapéutico , Humanos , Masculino , Metoprolol/uso terapéutico , Neurología , Fármacos Neuromusculares/administración & dosificación , Fármacos Neuromusculares/efectos adversos , Fármacos Neuroprotectores/uso terapéutico , Pediatría , Estudios Retrospectivos , Topiramato , Estimulación Eléctrica Transcutánea del Nervio , Resultado del TratamientoRESUMEN
Obesity in children and adolescents is associated with multiple comorbidities, including metabolic, cardiovascular, gastrointestinal, pulmonary, orthopedic and psychological disorders. In fact, cardiovascular and metabolic impairments in childhood and adolescence constitute major risk factors for developing cardiovascular disease in adulthood. Thus, obesity in childhood and adolescence leads to a higher morbidity and mortality in adulthood. Therefore, strong emphasis must be laid on the prevention and therapy of childhood obesity. Treatment requires a multidisciplinary and multiphase approach including dietary management, physical activity, pharmacotherapy and bariatric surgery. This paper reviews the different comorbidities of childhood obesity supporting the notion of a multidisciplinary therapy concept.
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Salud , Obesidad Infantil/complicaciones , Adolescente , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Niño , Enfermedades del Sistema Endocrino/epidemiología , Enfermedades del Sistema Endocrino/etiología , Enfermedades Gastrointestinales/epidemiología , Enfermedades Gastrointestinales/etiología , Humanos , Trastornos Mentales/epidemiología , Trastornos Mentales/etiología , Enfermedades Musculoesqueléticas/epidemiología , Enfermedades Musculoesqueléticas/etiología , Obesidad Infantil/epidemiología , Obesidad Infantil/terapiaRESUMEN
Altered fat distribution is associated with insulin resistance in HIV, but little is known about regional glucose metabolism in fat and muscle depots in this patient population. The aim of the present study was to quantify regional fat, muscle, and whole body glucose disposal in HIV-infected men with lipoatrophy. Whole body glucose disposal was determined by hyperinsulinemic clamp technique (80 mU x m(-2) x min(-1)) in 6 HIV-infected men and 5 age/weight-matched healthy volunteers. Regional glucose uptake in muscle and subcutaneous (SAT) and visceral adipose tissue (VAT) was quantified in fasting and insulin-stimulated states using 2-deoxy-[18F]fluoro-D-glucose positron emission tomography. HIV-infected subjects with lipoatrophy had significantly increased glucose uptake into SAT (3.8 +/- 0.4 vs. 2.3 +/- 0.5 micromol x kg tissue(-1) x min(-1), P < 0.05) in the fasted state. Glucose uptake into VAT did not differ between groups. VAT area was inversely related with whole body glucose disposal, insulin sensitivity, and muscle glucose uptake during insulin stimulation. VAT area was highly predictive of whole body glucose disposal (r2 = 0.94, P < 0.0001). This may be mediated by adiponectin, which was significantly associated with VAT area (r = -0.75, P = 0.008), and whole body glucose disposal (r = 0.80, P = 0.003). This is the first study to directly demonstrate increased glucose uptake in subcutaneous fat of lipoatrophic patients, which may partially compensate for loss of SAT. Furthermore, we demonstrate a clear relationship between VAT and glucose metabolism in multiple fat and muscle depots, suggesting the critical importance of this depot in the regulation of glucose and highlighting the significant potential role of adiponectin in this process.
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Tejido Adiposo/metabolismo , Glucosa/metabolismo , Síndrome de Lipodistrofia Asociada a VIH/metabolismo , Resistencia a la Insulina , Insulina/sangre , Músculo Esquelético/metabolismo , Adulto , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The bovine placenta is characterized by a limited invasion of trophoblast giant cells (TGC). In contrast to mononuclear trophoblast cells (MTC), TGC are non-polarized cells, which migrate and fuse with single uterine epithelial cells throughout gestation. Fibroblast growth factors (FGF) were shown to be associated with the migratory activity of cells, cell differentiation and angiogenesis, and due to its localization in trophoblast cells were proposed as important regulating factors in hemochorial placentae of rodents and humans, and the (syn)epitheliochorial placenta of pig and sheep. Since migrating bovine TGC are of epithelial origin, but exhibit similarities to mesenchymal cells we hypothesize that the restricted trophoblast invasion in cattle is characterized by a specific FGF expression pattern. Therefore, the spatiotemporal expression of specific FGF factor:receptor pairs, either acting on cells of mesenchymal origin or on epithelial cells was examined in bovine placental tissues throughout gestation and prepartum by immunohistochemistry, semiquantitative RT-PCR and in situ hybridization. FGF1 protein was found in trophoblast, caruncular epithelium (CE) and stroma (CS), stroma of chorionic villi (SCV), and in fetal and maternal blood vessels. FGF2 signals dominated in maternal vascular endothelia (VE), immature TGC, and MTC, whereas staining in other cell types was clearly weaker. FGF7 protein was detected in fetal and maternal blood vessel as well as in immature TGC and MTC predominantly at the chorionic plate. FGFR immunoreaction was localized in immature TGC, MTC, and to a clearly lesser extent in CS, CE and fetal and maternal blood vessels. Mature TGC stained negatively for all examined factors and FGFR. The corresponding mRNAs specific for FGF1, -2, -7, total FGFR, and FGFR2 isoforms IIIb and IIIc were colocalized in immature TGC, whereas hybridization was substantially lower in CE and absent in CS, SCV and mature TGC throughout gestation, but switched to CS and VE immediately prepartum. Semiquantitative RT-PCR revealed higher mRNA levels for FGF1, FGFR, and FGFR2IIIc in cotyledons compared to caruncles (p<0.05), whereas it was the opposite with FGF2 (p<0.001). FGF7 and FGFR2IIIb mRNA levels did not differ between caruncles and cotyledons. Significant changes (p<0.05) of mRNA levels related to gestational age were found for FGF1 and FGFR2IIIc, but not for FGF2, -7, total FGFR, and FGFR2IIIb. The specific localization of all examined FGF family members in TGC suggests that TGC, apart from their classical function as producers of hormonal products, play other important roles in the regulation of bovine placentomal growth, differentiation and angiogenesis.
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Factores de Crecimiento de Fibroblastos/metabolismo , Células Gigantes/metabolismo , Receptores de Factores de Crecimiento de Fibroblastos/metabolismo , Trofoblastos/metabolismo , Animales , Biomarcadores/metabolismo , Bovinos , Recuento de Células , Femenino , Factores de Crecimiento de Fibroblastos/genética , Técnica del Anticuerpo Fluorescente Indirecta , Expresión Génica , Células Gigantes/citología , ARN Mensajero/metabolismo , Receptores de Factores de Crecimiento de Fibroblastos/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Trofoblastos/citologíaRESUMEN
In the future, plants will have additional CO(2) for photosynthesis. However, plants do not take maximal advantage of this additional CO(2) and it has been hypothesized that end product synthesis limitations and sugar sensing mechanisms are important in regulating plant responses to increasing CO(2). Attempts to increase end product synthesis capacity by engineering increased sucrose-phosphate synthase activity have been generally, but not universally, successful. It was found that plants benefited from a two- to three-fold increase in SPS activity but a 10-fold increase did not increase yield. Despite the success in increasing yield, increasing SPS did not increase photosynthesis. However, carbon export from chloroplasts was increased during the day and reduced at night (when starch provides carbon for sucrose synthesis. We develop here a hypothesis that starch degradation is closely sensed by hexokinase because a newly discovered pathway required for starch to sucrose conversion that involves maltose is one of few metabolic pathways that requires hexokinase activity.
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Metabolismo de los Hidratos de Carbono , Dióxido de Carbono/farmacología , Plantas/metabolismo , Almidón/metabolismo , Transporte Biológico/efectos de los fármacos , Cloroplastos/efectos de los fármacos , Cloroplastos/genética , Cloroplastos/metabolismo , Ingeniería Genética/métodos , Glucosiltransferasas/metabolismo , Fotosíntesis/efectos de los fármacos , Fotosíntesis/genética , Hojas de la Planta/efectos de los fármacos , Hojas de la Planta/genética , Hojas de la Planta/metabolismo , Plantas/efectos de los fármacos , Plantas/genéticaRESUMEN
Blood relatives of patients with the inherited disease ataxia telangiectasia (A-T) have an increased susceptibility for breast cancer. We therefore looked for sequence alterations of the ATM gene in a large hospital-based series of unselected breast cancer patients. The whole ATM coding sequence was analyzed in genomic DNA samples from a core group of 192 consecutive breast cancer cases to define the spectrum of ATM gene mutations. Common sequence alterations were then screened in the whole series of 1000 breast cancer patients and in 500 random individuals. In the core group, 21 distinct sequence alterations were identified throughout the ATM coding region, and 1 common splicing mutation was uncovered in intron 10. Almost half of the breast cancer patients (46%) were heterozygotes for 1 of 16 different amino acid substitutions, and three patients (1.6%) carried a truncating mutation. These data indicate that approximately 1 in 50 German breast cancer patients is heterozygous for an A-T-causing mutation. In our extended series, the most common A-T mutation 1066-6T-->G was disclosed in 7 of 1000 (0.7%) breast cancer patients. Transcript analyses indicated that the loss of exon 11 in the ATM mRNA was the pathogenic consequence of this splicing mutation, which produced a <10% of full-length ATM mRNA and ATM protein in a homozygous A-T patient. We also found an excess of rare missense substitutions in the breast cancer cohort compared with random individuals (7.9% versus 5.3% of alleles; odds ratio = 1.6; P < 0.01). One missense substitution, S707P in exon 15, was two times more frequent in breast cancer patients (odds ratio = 2.4; 95% confidence interval, 1.0-5.8) and five times more frequent in patients with bilateral disease than in random individuals (P < 0.001). We conclude that a large variety of distinct ATM mutations and variants exist among breast cancer patients, some of which can contribute to the etiology and progression of the malignancy. Screening for frequent A-T mutations such as the 1066-6-->G splice site substitution can be effective to prospectively identify A-T heterozygotes in an unselected cancer patient population.
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Neoplasias de la Mama/genética , Mutación de Línea Germinal , Proteínas Serina-Treonina Quinasas/genética , Adenocarcinoma/genética , Adulto , Anciano , Anciano de 80 o más Años , Sustitución de Aminoácidos , Ataxia Telangiectasia/genética , Proteínas de la Ataxia Telangiectasia Mutada , Carcinoma Ductal de Mama/genética , Proteínas de Ciclo Celular , Proteínas de Unión al ADN , Femenino , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Mutación Missense , Sitios de Empalme de ARN/genética , Proteínas Supresoras de TumorRESUMEN
Gravitropic sensing in stems and stem-like organs is hypothesized to occur in the endodermis. However, since the endodermis runs the entire length of the stem, the precise site of gravisensing has been difficult to define. In this investigation of gravisensitivity in inflorescence stems of Arabidopsis, we positioned stems in a high gradient magnetic field (HGMF) on a rotating clinostat. Approximately 40% of the young, wild-type (WT) inflorescences, for all positions tested, curved toward the HGMF in the vicinity of the stem exposed to the field. In contrast, when the wedge was placed in the basal region of older inflorescence stems, no curvature was observed. As a control, the HGMF was applied to a starchless mutant, and 5% of the stems curved toward the field. Microscopy of the endodermis in the WT showed amyloplast displacement in the vicinity of the HGMF. Additional structural studies demonstrated that the basal region of WT stems experienced amyloplast displacement and, therefore, suggest this region is capable of gravity perception. However, increased lignification likely prevented curvature in the basal region. The lack of apical curvature after basal amyloplast displacement indicates that gravity perception in the base is not transmitted to the apex. Thus, these results provide evidence that the signal (and thus, response) resulting from perception in Arabidopsis inflorescence stems is spatially restricted.
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Arabidopsis/fisiología , Gravitropismo/fisiología , Tallos de la Planta/fisiología , Arabidopsis/anatomía & histología , Arabidopsis/efectos de la radiación , Magnetismo , Tallos de la Planta/citología , Tallos de la Planta/efectos de la radiaciónRESUMEN
Many people think of plants as essentially sessile organisms that do not actively respond to their environment. What could be further from the truth! In fact, plants are capable of a variety of movements, including the dramatic nastic responses (such as Venus fly trap closure) and the less sensational tropisms. These latter movements are directed growth responses to some type of external stimulus such as gravity (gravitropism, formerly known as geotropism) or light (phototropism). This paper describes some interesting exercises that are derived from recent work, including research that has led to experiments performed on two Space Shuttle missions in 1997 (Kiss et al. 1998). The study of tropisms can be a useful way to introduce students to plant biology in high school and introductory college courses. In our experience, students are fascinated by plant movements when they are presented in lectures and find laboratory experiences on this topic quite engaging. Laboratory work on plant tropisms can also be used to introduce important concepts in science such as hypothesis testing, quantitative analysis, and the use of statistics. The laboratory exercises described in this paper involve the higher plant Arabidopsis thaliana, which has become an important organism in molecular biology research and is the focus of an international plant genome project. Based on the material presented here, a number of plant gravitropism laboratory exercises with Arabidopsis that are simple in terms of equipment/materials and procedures can be developed. These exercises are robust in that they work well even in the hands of introductory students, and they can be expanded according to the individual instructor's needs. This paper describes two exercises that have been performed by beginning college students, and these exercises can easily be performed in biology classes in most high school settings.
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Arabidopsis/crecimiento & desarrollo , Disciplinas de las Ciencias Biológicas/educación , Gravitropismo , Sensación de Gravedad/fisiología , Arabidopsis/genética , Fototropismo , Fenómenos Fisiológicos de las Plantas , Plastidios/fisiología , Proyectos de InvestigaciónRESUMEN
Previous studies have assayed the gravitropic response of roots and hypocotyls of wild type Arabidopsis thaliana, two reduced-starch strains, and a starchless strain. Because there have been few reports on inflorescence gravitropism, in this article, we use microscopic analyses and time-course studies of these mutants and their wild type to study gravitropism in these stems. Sedimentation of plastids was observed in endodermal cells of the wild type and reduced-starch mutants but not in the starchless mutant. In all of these strains, the short inflorescence stems (1.0-2.9 cm) were less responsive to the gravistimulus compared with the long stems (3.0-6.0 cm). In both long and short inflorescence stems, the wild type initially had the greatest response; the starchless mutant had the least response; and the reduced starch mutants exhibited an intermediate response. Furthermore, growth rates among all four strains were approximately equal. At about 6 h after reorientation, inflorescences of all strains returned to a position parallel to the gravity vector. Thus, in inflorescence stems, sedimentation of plastids may act as an accelerator but is not required to elicit a gravitropic response. Furthermore, the site of perception appears to be diffuse throughout the inflorescence stem. These results are consistent with both a plastid-based statolith model and the protoplast pressure hypothesis, and it is possible that multiple systems for gravity perception occur in plant cells.
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Gravitropismo/fisiología , Sensación de Gravedad/fisiología , Tallos de la Planta/crecimiento & desarrollo , Plastidios/fisiología , Arabidopsis/genética , Arabidopsis/crecimiento & desarrollo , Arabidopsis/ultraestructura , Hipocótilo/crecimiento & desarrollo , Mutación , Tallos de la Planta/ultraestructura , Almidón/deficiencia , Almidón/metabolismoRESUMEN
OBJECTIVE: To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS). BACKGROUND: BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (AChR) have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy, which, like BECTS, is an idiopathic partial epilepsy. METHODS: A DNA linkage study was conducted screening all chromosomal regions known to harbor neuronal nicotinic AChR subunit genes. Twenty-two nuclear families with BECTS were analyzed. RESULTS: In an "affected-only" study, best p values and lod scores were reached between D15S165 and D15S1010 on chromosome 15q14. In multipoint nonparametric linkage analysis a nominal p value of 0.000494 was calculated by GENEHUNTER. Best parametric results were obtained under an autosomal recessive model with heterogeneity (multipoint lod score 3.56 with 70% of families linked to the locus). These markers are localized in direct vicinity to the alpha 7 subunit gene of the AChR. CONCLUSIONS: We found evidence for linkage of BECTS to a region on chromosome 15q14. Either the alpha 7 AChR subunit gene or a closely linked gene are implicated in pedigrees with BECTS. The disorder is genetically heterogeneous. Surprisingly, the same chromosomal area has been reported to be linked to the phenotype in families with an auditory neurophysiologic deficit as well as in families with juvenile myoclonic epilepsy, another idiopathic but generalized epilepsy syndrome.
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Cromosomas Humanos Par 15 , Electroencefalografía , Epilepsia Rolándica/diagnóstico , Epilepsia Rolándica/genética , Ligamiento Genético , Adolescente , Química Encefálica/fisiología , Niño , Preescolar , Epilepsia Rolándica/fisiopatología , Femenino , Heterogeneidad Genética , Humanos , Masculino , Linaje , Receptores Nicotínicos/fisiologíaRESUMEN
The hypermetabolic inflammatory state that occurs after major trauma has been extensively studied at the whole body level, however, there is only limited information on metabolic changes in individual tissues. In this study, the effect of thermal injury on metabolic function of uninjured hind limb muscle of rabbits was measured noninvasively by positron emission tomography (PET). Rabbits were subjected to full thickness burn on 25% of their body surface area. Two to three weeks after injury, PET and arterial blood sampling was performed during inhalation of 15O2, C15O2 and 11CO and after injection of 18FDG. The tissue and blood data were analyzed by standard kinetic models for blood flow, oxygen extraction fraction (OEF), oxygen utilization and glucose metabolism. A total of seven injured and five sham animals were studied. Total body oxygen consumption was measured by indirect calorimetry and plasma concentrations of glucose, insulin and IGF-1 were measured with standard assays. Compared to sham rabbits, blood flow to muscle of injured animals was unchanged. However, OEF, oxygen utilization and glucose metabolism were significantly reduced (p<0.01) in uninjured muscle of burned rabbits. These data demonstrate that thermal injury is associated with alterations in muscle metabolism, which are not related to change in blood flow.