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1.
Unfallchirurg ; 120(7): 585-589, 2017 Jul.
Artículo en Alemán | MEDLINE | ID: mdl-27008216

RESUMEN

BACKGROUND: In Germany, an average of 9.5 L of pure alcohol is consumed per capita per year. Alcohol is known to negatively influence psychomotor abilities. The aim of this study was to evaluate injuries that lead to hospital admission with and without prior intake of alcohol. PATIENTS AND METHODS: Over a 7-month period, all 1317 patients who were admitted to the hospital because of an injury were evaluated with respect to their blood-alcohol level. Patient data of both groups (139 injuries under alcohol influence and 1178 injuries without alcohol influence) were compared with respect to the mechanism and type of injury, patient demographics, and treatment costs. RESULTS: At the time of presentation, 11 % (n = 139) of all admitted patients had detectable blood-alcohol levels of more than 0.1 g/L with an average blood-alcohol level of 2.21 g/L. Female patients had an average of 1.96 g/L and males an average of 2.28 g/L (N.S.). Almost every fifth male patient (109 out of 570, 19 %) had a detectable blood-alcohol level, compared to only 4 % of all admitted female patients. Among the patients admitted between 11:00 p.m. and 5:00 a.m., 35 % had detectable blood-alcohol levels and among the 20- to 30-year-old patients, 24 % had detectable blood-alcohol levels. The leading mechanisms of injury among intoxicated patients were falls (50 %, n = 70) and physical violence (18 %, n = 25). The latter was recorded significantly (p = 0.01) less among sober patients (0.17 %, n = 2). The most frequent diagnosis was a mild concussion in both intoxicated (60%, n = 84) and sober (34 %, n = 402) patients (p = 0.04). The time to discharge averaged 4.3 days for intoxicated and 5.6 days for sober patients. CONCLUSIONS: Injuries that occur while under the influence of alcohol that lead to hospital admission are particularly frequent in male patients aged between 20 and 30 years. They do not necessarily lead to more severe injuries.


Asunto(s)
Intoxicación Alcohólica/complicaciones , Heridas y Lesiones/etiología , Accidentes por Caídas/economía , Accidentes por Caídas/estadística & datos numéricos , Adolescente , Adulto , Factores de Edad , Anciano , Intoxicación Alcohólica/sangre , Intoxicación Alcohólica/economía , Intoxicación Alcohólica/epidemiología , Nivel de Alcohol en Sangre , Estudios Transversales , Femenino , Alemania , Costos de la Atención en Salud/estadística & datos numéricos , Humanos , Tiempo de Internación/economía , Tiempo de Internación/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Admisión del Paciente/economía , Admisión del Paciente/estadística & datos numéricos , Factores Sexuales , Violencia/economía , Violencia/estadística & datos numéricos , Heridas y Lesiones/sangre , Heridas y Lesiones/economía , Heridas y Lesiones/epidemiología , Adulto Joven
2.
Mol Biosyst ; 7(11): 3132-42, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21912786

RESUMEN

The two-component regulatory system PhoR/PhoB induces the expression of several genes in response to phosphate starvation in Escherichia coli. In order to quantify these protein-DNA interactions and to study the time-resolved dynamics of the binding mechanism, the specific recognition of different oligonucleotide duplexes by the DNA-binding domain of PhoB (PhoB(DBD)) was analyzed using surface plasmon resonance. In addition the two point mutants PhoB(DBD)D196A and PhoB(DBD)R219A were obtained and the DNA recognition in comparison to the wildtype PhoB(DBD) was investigated. Aspartic acid 196 and arginine 219 mediate specific minor groove interactions. All results reveal that at high PhoB(DBD)-concentrations all recognition sequences of the pho box are occupied. Decreasing the protein amount results in a mixture of free oligonucleotides and DNA molecules occupied by two WT-PhoB(DBD). Moreover, the SPR results indicate that both binding site segments, the TGTCA-motif and the A/T-rich minor groove, are essential for the binding process. A comparison of different regulons additionally proved the dependency of the recognition process on the base composition of the minor groove.


Asunto(s)
Proteínas Bacterianas/química , Proteínas de Unión al ADN/química , Factores de Transcripción/química , Proteínas Bacterianas/genética , Sitios de Unión , Proteínas de Unión al ADN/genética , Escherichia coli/genética , Escherichia coli/metabolismo , Mutación , Fosfatos/metabolismo , Conformación Proteica , Proteínas Recombinantes de Fusión/química , Proteínas Recombinantes de Fusión/genética , Regulón , Resonancia por Plasmón de Superficie , Factores de Transcripción/genética
3.
Endoscopy ; 43(9): 802-7, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21623558

RESUMEN

BACKGROUND AND STUDY AIMS: Training standards in gastrointestinal endoscopy are poorly defined even though different simulators are increasingly used for skills training. In 2001 a new training concept called "GATE--gastroenterological education-training endoscopy" was established, which provides a combination of background theory, video demonstrations, and simulator training. We aimed to evaluate the acceptance and training effect of this training model. METHODS: In total, 98 physicians participating in four training courses were included. Data were collected on baseline characteristics, acceptance (5-point Likert scale), and pre- and post-course knowledge through a structured questionnaire (A-type and Pick-N multiple choice questions). A total of 13 trainees were randomly selected for additional simulator assessment of training effects on manual skills (5-point Likert scale). RESULTS: A total of 78 trainees (80%) provided complete data sets. The evaluation showed a positive acceptance of the training program (value 1 and 2, Likert scale); for example, 88% of participants suggested the inclusion of the GATE course as an obligatory part of endoscopic education. There was a significant improvement in theoretical knowledge in the post-test set compared with the pre-test set (mean 3.27 ±1.30 vs. 1.69 ±1.01 points; P<0.001). The training effect on practical skill showed a significant reduction in time needed for a procedure (445 ±189 s vs. 274 ±129 s; P<0.01). The mean assessment rating for practical skills improved from 3.05 ±0.65 at baseline to 2.52 ±0.59 on Likert scale ( P=0.085). CONCLUSIONS: The integrated GATE training improved theoretical knowledge and manual skill. The GATE courses have been accredited by the German Society of Gastroenterology, underlining the demand for implementing preclinical training courses in endoscopic training.


Asunto(s)
Educación de Postgrado en Medicina/métodos , Endoscopía Gastrointestinal/educación , Conocimientos, Actitudes y Práctica en Salud , Destreza Motora , Adulto , Actitud del Personal de Salud , Simulación por Computador , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadísticas no Paramétricas
4.
Laryngorhinootologie ; 89(2): 90-4, 2010 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-19728257

RESUMEN

OBJECTIVE: Cerebral Palsy (CP) is associated frequently with swallowing disorders. By means of fiberoptic endoscopy, pathological findings in dysphagic patients with CP have been intended to be described, to be quantified, and to be related to selected anamnestic aspects. PATIENTS AND METHODS: Swallowing competency has been analysed endoscopically in 54 patients with spastic tetraparesis (range of age: 3 months to 15 years and 11 months). RESULTS: Over 60% of all patients examined endoscopically showed deficits in terms of penetration (24%) or aspiration (39%) of saliva. Two-thirds of the patients who have been tested with food had a penetration or aspiration of food, more than half of them without airway protection by cough reflex. Patients who have been fed orally before examination reported aspirations of food for 40%. Interestingly, about 40% of the children without history of pneumonia had aspirations of saliva and food. Drooling phenomena where associated with aspirations of saliva in 54% and with aspiration of food in 53% of our patients. CONCLUSIONS: Fiberoptic endoscopy is useful to detect a potentially dangerous penetration or aspiration of saliva, secretions and food. Thereby it enables the physician to change airway and feeding management. This is of special importance as children who formerly have been fed orally without suspicion of risks and pneumonia anamnesis turned out to have severe swallowing deficits. A close connection between appearance of drooling phenomena and aspiration of saliva and food has also to be considered in children with CP.


Asunto(s)
Parálisis Cerebral/diagnóstico , Trastornos de Deglución/diagnóstico , Endoscopía , Tecnología de Fibra Óptica , Aspiración Respiratoria/diagnóstico , Adolescente , Parálisis Cerebral/terapia , Niño , Preescolar , Trastornos de Deglución/terapia , Nutrición Enteral , Femenino , Humanos , Lactante , Masculino , Neumonía por Aspiración/diagnóstico , Aspiración Respiratoria/terapia , Estudios Retrospectivos , Sialorrea/diagnóstico , Sialorrea/terapia , Grabación en Video
5.
Dtsch Tierarztl Wochenschr ; 115(3): 118-22, 2008 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-18444469

RESUMEN

Rubber topped slatted floor gives more lying comfort to intensive fed fattening bulls, reduces risks of integument lesions as well as increases their locomotion comfort. On the other side there are more fissured alterations and defects in the sole and heel horn due to lack of sufficient wear away which often made the bearing surface to be overgrown. Overgrown claws are also seen on solid slatted floors, but these horn parts were normally grated down in short time that frequently goes along with abrasions of the claw peak and the wall horn as well. The current experiences of our study show favour to the use of a floor that combines hard and soft qualities. Weak claw performance and health has a link to a bad state of cleanness of the pens and the animals as well and must be assessed with regard to permanent wetness on the grounds. Animals out of greater pens are less dirty because the solid floor becomes sooner dry than in cases with higher crowding degrees of animals. More space per animal and higher comfort gives chance for higher daily weight gain. The recordings and evaluations of this project are still in progress.


Asunto(s)
Enfermedades de los Bovinos/prevención & control , Pisos y Cubiertas de Piso/normas , Enfermedades del Pie/veterinaria , Pezuñas y Garras/patología , Vivienda para Animales/normas , Bienestar del Animal , Animales , Bovinos , Enfermedades del Pie/prevención & control , Pezuñas y Garras/crecimiento & desarrollo , Masculino , Aumento de Peso
6.
HNO ; 56(4): 397-401, 2008 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-17932633

RESUMEN

BACKGROUND: The aim of this retrospective study was to evaluate fiberoptic endoscopic examination of swallowing in the pediatric patient by focusing on its feasibility and typical complications. PATIENTS AND METHODS: From 1997 to 2005, 164 children and young persons with swallowing disorders, who had not previously undergone endoscopic examination, presented for fiberoptic endoscopic examination of swallowing. Of these patients, 47% were age 6 years or younger. The most frequent reasons for the swallowing disorders were neurogenous (87%). RESULTS: In 129 of the 164 patients (78.6%), relevant informations about swallowing pathology was obtained. Because of anatomical restrictions or lack of cooperation, endoscopic examination was impossible in eight cases (4.9%). In 27 patients (16.5%) the procedure had to be terminated early because of inadequate cooperation. Severe complications concerning the endoscopic procedure did not occur. CONCLUSIONS: Fiberoptic endoscopic examination of swallowing turned out to be a feasible tool for the diagnostics of pediatric swallowing disorders. Its complications are rare if basic precautions are respected.


Asunto(s)
Trastornos de Deglución/diagnóstico , Deglución , Endoscopios , Tecnología de Fibra Óptica/instrumentación , Adolescente , Niño , Preescolar , Diseño de Equipo , Análisis de Falla de Equipo , Estudios de Factibilidad , Femenino , Humanos , Lactante , Masculino , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
7.
Childs Nerv Syst ; 21(7): 566-72, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15711984

RESUMEN

INTRODUCTION: Acute disseminated encephalomyelitis (ADEM) is one of a group of demyelinating disorders of the central nervous system (CNS). It is said to be attributed to an overshooting immunologic response following an infection or vaccination. The clinical course and type of manifestation is heterogeneous. The early application of corticosteroids has been shown to be beneficial to outcome; thus, an early diagnosis is highly desirable. METHODS: The potential diagnostic value of advanced MR techniques such as proton MR spectroscopy and diffusion-weighted imaging (DWI) was investigated in two paediatric patients with ADEM, one of whom had a remitting and relapsing clinical course and presented with additional cranial nerve involvement. Proton MR spectroscopy revealed typical signs of acute demyelination, such as increased macromolecules, not found in other forms of non-necrotising pathology. CONCLUSION: The addition of proton MR spectroscopy and DWI adds to the diagnostic power of MRI in the setting of post-infectious demyelinating disorders of the CNS or ADEM and may obviate the need for biopsy.


Asunto(s)
Encefalomielitis Aguda Diseminada/patología , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Protones , Adolescente , Niño , Femenino , Humanos
8.
Neuropediatrics ; 35(2): 143-6, 2004 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15127316

RESUMEN

Acute disseminated encephalomyelitis (ADEM) comprises a group of demyelinating disorders of the CNS, of which a haemorrhagic variant indicates the most severe clinical course (AHEM). It is supposed to be caused by an overshooting immunological response following an infection or a vaccination. Restricted diffusion of protons could be demonstrated using DW-MRI in a case of rapidly progressive disease with additional haemorrhage. Hence, the addition of DWI adds to the diagnostic power of MRI in the setting of post-infectious demyelinating disorders of the CNS.


Asunto(s)
Encéfalo/patología , Leucoencefalitis Hemorrágica Aguda/patología , Niño , Imagen de Difusión por Resonancia Magnética , Humanos , Masculino
9.
Ultrasound Obstet Gynecol ; 20(6): 620-2, 2002 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-12493054

RESUMEN

Isolated choroid plexus cysts are usually diagnosed at the time of screening ultrasonography during the second trimester. While they raise the question of underlying chromosomal abnormalities, their clinical course is almost invariably benign with complete resolution often by the third trimester. We report the highly unusual case of a choroid plexus cyst diagnosed at 14 weeks of gestational age with subsequent further enlargement of the cyst, necessitating postpartum neurosurgical intervention.


Asunto(s)
Plexo Coroideo , Quistes/diagnóstico , Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal/métodos , Adulto , Plexo Coroideo/diagnóstico por imagen , Quistes/diagnóstico por imagen , Quistes/patología , Femenino , Enfermedades Fetales/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , Embarazo , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal/métodos
10.
Neurology ; 57(1): 122-5, 2001 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-11445639

RESUMEN

Right-hemispheric organization of speech has been observed following early left-sided brain lesions involving the language cortex. The authors studied speech organization in hemiparetic patients with pre- and perinatally acquired lesions in the left periventricular white matter using fMRI, and found that right-hemisphere activation correlated with left facial motor tract involvement. This suggests that the impairment of speech motor output from the left hemisphere plays an important role in this alteration of language representation.


Asunto(s)
Encéfalo/patología , Dominancia Cerebral , Hemiplejía/diagnóstico , Hemiplejía/psicología , Habla/fisiología , Adolescente , Adulto , Ventrículos Cerebrales , Femenino , Hemiplejía/congénito , Humanos , Imagen por Resonancia Magnética , Masculino , Valores de Referencia
11.
Neuropediatrics ; 32(2): 101-3, 2001 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11414640

RESUMEN

A 19-month-old boy presented with acute-onset cerebellar ataxia following immunisation. Ataxia was prolonged with a fluctuating course over a period of two years. Opsoclonus was never observed. Extensive diagnostic studies were negative during this time. Finally, a neuroblastoma was discovered. Ataxia disappeared completely during polychemotherapy. This report suggests that occult neuroblastoma must be considered in any child with unexplained prolonged cerebellar ataxia. Specific investigations are recommended for such cases.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Ataxia Cerebelosa/etiología , Neuroblastoma/diagnóstico , Trastornos de la Motilidad Ocular/etiología , Síndromes Paraneoplásicos/etiología , Neoplasias de las Glándulas Suprarrenales/tratamiento farmacológico , Neoplasias de las Glándulas Suprarrenales/cirugía , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Ataxia Cerebelosa/diagnóstico , Ataxia Cerebelosa/tratamiento farmacológico , Preescolar , Terapia Combinada , Estudios de Seguimiento , Humanos , Lactante , Masculino , Terapia Neoadyuvante , Neuroblastoma/tratamiento farmacológico , Neuroblastoma/cirugía , Trastornos de la Motilidad Ocular/diagnóstico , Trastornos de la Motilidad Ocular/tratamiento farmacológico , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/tratamiento farmacológico
12.
Stud Health Technol Inform ; 81: 192-8, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11317738

RESUMEN

We report preliminary results of an ongoing study in which a virtual environment (VE) system is used to facilitate motor relearning of a pouring task in patients with Acquired Brain Injury (ABI). Four subjects were evaluated pre- and post-VE training using virtual-world and real-world tests in which subjects performed a pouring motion while holding a cup. Standard clinical tests of motor and functional ability were also used. Three of four subjects demonstrated improvement in end-point trajectories (cup path) performed during the virtual and real world tests. Clinical test scores also improved. Results indicate that subjects with ABI were able to learn a movement in VE, and generalize this ability to real-world performance of similar and unrelated tasks. VE training appears to be a feasible and promising approach to the rehabilitation of subjects with ABI.


Asunto(s)
Daño Encefálico Crónico/rehabilitación , Trastornos Psicomotores/rehabilitación , Medio Social , Interfaz Usuario-Computador , Adolescente , Adulto , Estudios de Factibilidad , Generalización Psicológica , Humanos , Masculino
13.
Epilepsia ; 41(5): 628-30, 2000 May.
Artículo en Inglés | MEDLINE | ID: mdl-10802771

RESUMEN

PURPOSE: Vigabatrin (VGB) is a new-generation anticonvulsant used in the treatment of partial seizures and West syndrome. Side effects of VGB treatment in adults and children are well described. Acute encephalopathy with VGB has recently been reported in eight adults. They developed stupor, confusion, and electroencephalographic abnormalities after starting VGB. Does the acute encephalopathy with VGB also occur in childhood? METHODS: We describe a 6-month-old girl with infantile Alexander disease with hydrocephalus who developed similar clinical symptoms with apathia, somnolence, and sopor, as well as slowing of the background activity in EEG, 3 days after starting VGB. After exclusion of shunt dysfunction, encephalitis, metabolic dysfunction, and renal failure, VGB was discontinued. RESULTS: During the next 2 days, symptoms subsided, and after 10 days, EEG background activity returned to the one before starting VGB. CONCLUSIONS: Acute encephalopathy associated with VGB in children seems to be very rare, but should not be ignored.


Asunto(s)
Anticonvulsivantes/efectos adversos , Encefalopatías/inducido químicamente , Encefalopatías/diagnóstico , Espasmos Infantiles/tratamiento farmacológico , Vigabatrin/efectos adversos , Enfermedad Aguda , Factores de Edad , Anticonvulsivantes/uso terapéutico , Encefalopatías/fisiopatología , Electroencefalografía/estadística & datos numéricos , Femenino , Humanos , Lactante , Espasmos Infantiles/fisiopatología , Vigabatrin/uso terapéutico
14.
Neuropediatrics ; 31(5): 257-64, 2000 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-11204283

RESUMEN

Three-dimensional MRI data sets were obtained from 12 young adult patients with congenital spastic hemiparesis caused by unilateral periventricular white matter lesions. The impact of these lesions on corticospinal projections to the upper and lower extremities was assessed on reconstructed semi-coronal planes following anatomical landmarks of somatotopic organization in the precentral gyrus and in the internal capsule: a more anterior plane running through the hand-knob of the precentral gyrus and the anterior portion of the posterior limb of the internal capsule representing projections to the upper extremity, and a more posterior plane running through the top of the precentral gyrus and the middle portion of the posterior limb of the internal capsule representing projections to the lower extremity. In addition, the total lesion extent was determined volumetrically, and Wallerian degeneration was assessed qualitatively in the internal capsule and quantitatively by measuring brainstem asymmetry. We found a strong correlation between motor dysfunction of the upper and lower limb and the lateral extent of the periventricular lesion measured on the respective semi-coronal planes. The total lesion volume and the degree of Wallerian degeneration correlated less strongly, both reaching statistical significance only with motor impairment of the hand.


Asunto(s)
Paresia/patología , Paresia/fisiopatología , Tractos Piramidales/patología , Tractos Piramidales/fisiopatología , Degeneración Walleriana/patología , Degeneración Walleriana/fisiopatología , Adolescente , Adulto , Factores de Edad , Brazo/inervación , Encéfalo/patología , Encéfalo/fisiopatología , Estudios de Casos y Controles , Femenino , Humanos , Pierna/inervación , Imagen por Resonancia Magnética , Masculino , Examen Neurológico , Paresia/congénito
15.
Klin Padiatr ; 211(3): 154-60, 1999.
Artículo en Alemán | MEDLINE | ID: mdl-10412125

RESUMEN

In most cases the etiology of the focal ischemic stroke in newborns is still obscure. We considered patients with congenital hemiparesis due to a lesion in the territory of the middle cerebral artery (shown by CT or MRI) as a model of this infarction. A detailed history including maternal and familiar data was obtained from 9 affected patients. Duplex-sonography was performed and biochemical parameters were analysed in all patients and their mothers. There were no convincing hints for a prenatal (for instance infectious, traumatic or toxic) origin. Also the reconstruction of the perinatal period could not explain the infarction. Duplex-sonography revealed no anatomic variants of the intra- or extracerebral arteries. Haemostasiological results were within normal limits--except the antiphospholipid antibodies, which were detected in 7 of the 9 families (patient or mother). The significance of these results is still unknown. We propose, antiphospholipid antibodies and further haemostasiological parameters should be investigated as near as possible to the neonatal period.


Asunto(s)
Infarto Cerebral/etiología , Adolescente , Síndrome Antifosfolípido/complicaciones , Síndrome Antifosfolípido/diagnóstico por imagen , Infarto Cerebral/diagnóstico por imagen , Niño , Preescolar , Femenino , Estudios de Seguimiento , Hemostasis/fisiología , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Efectos Tardíos de la Exposición Prenatal , Factores de Riesgo , Ultrasonografía Doppler Transcraneal
16.
Klin Padiatr ; 209(3): 95-9, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9183774

RESUMEN

We report on the follow-up of 28 patients, who were admitted to our hospitals between 1968 and 1984, and who, at that time, were diagnosed as having idiopathic facial palsy. These children were neither tested for Lyme borreliosis (LB) nor did they receive antibiotic treatment. In those days LB was an unfamiliar infection. Today we can assume that approximately 30%-50% of the patients we studied represent actual cases of neuroborreliosis. We, therefore, considered them an appropriate model in studying the spontaneous course of LB in children. the analysis of the questionnaire designed for our study as well as the supplementary clinical and serological reexaminations in some cases provided no evidence that neuroborreliosis led to relevant health disorders in any of the children (follow-up 10 to 26 years, mean 17). The results of our retrospective study led us to conclude that tick-borne facial palsy is relatively benign in children and that neuroborreliosis is insignificantly related to late complications.


Asunto(s)
Parálisis Facial/microbiología , Enfermedad de Lyme/microbiología , Adolescente , Adulto , Anticuerpos Antibacterianos/aislamiento & purificación , Grupo Borrelia Burgdorferi/inmunología , Niño , Parálisis Facial/etiología , Femenino , Humanos , Enfermedad de Lyme/complicaciones , Masculino , Estudios Retrospectivos , Encuestas y Cuestionarios
17.
Clin Genet ; 50(5): 426-9, 1996 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-9007337

RESUMEN

We report a boy with duplication of a small segment of the short arm of chromosome 7 (46,XY, dir dup (7) (p21.2-->22.1). The boy presented with supravalvular pulmonary stenosis, atrial septum defect and mental retardation. The origin of the additional material from chromosome 7 was confirmed by fluorescence in situ hybridization. This technique in combination with the use of single-copy DNA probes may in future help to delineate the phenotype/karyotype correlation.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 7 , Familia de Multigenes , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Discapacidad Intelectual/genética , Masculino
18.
Neuropediatrics ; 27(5): 249-55, 1996 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-8971745

RESUMEN

A prospective study on transcranial color duplex sonography (TCCD) was performed with 94 healthy children and adolescents between 3 and 18 years of age (age and sex evenly distributed) in order to provide normal data on angle-corrected ("true") flow velocities and wave-form parameters of the main supra- and infratentorial basal cerebral arteries. Using a 2.0 MHz transducer of a computed sonography system, we examined the anterior, middle, and posterior cerebral arteries of either side transcranially, and the vertebrobasilar system suboccipitally. In all arteries, flow velocities decreased continuously from early childhood to adulthood, while wave-form parameters remained constant. There was no difference in flow velocities, and wave-form parameters between girls and boys. On the average, the angle-corrected flow velocities measured by TCCD were about 10%-20% higher than the reference data provided in "blind" transcranial Doppler studies by other groups for the anterior and posterior cerebral arteries as well as the basilar artery, while there were only small differences in the values for the middle cerebral artery. Side-to-side differences in flow velocities were lower in the middle and posterior cerebral arteries than in the anterior cerebral and the vertebral arteries. The reference data presented here provide a basis for the clinical application of the TCCD method in children and adolescents.


Asunto(s)
Encéfalo/irrigación sanguínea , Ultrasonografía Doppler en Color , Ultrasonografía Doppler Transcraneal , Insuficiencia Vertebrobasilar/diagnóstico por imagen , Adolescente , Factores de Edad , Arteria Basilar/diagnóstico por imagen , Velocidad del Flujo Sanguíneo/fisiología , Arterias Cerebrales/diagnóstico por imagen , Niño , Preescolar , Dominancia Cerebral/fisiología , Femenino , Humanos , Masculino , Valores de Referencia , Arteria Vertebral/diagnóstico por imagen
19.
Klin Padiatr ; 208(5): 276-9, 1996.
Artículo en Alemán | MEDLINE | ID: mdl-8992093

RESUMEN

A review of the literature reveals that, until now, there is no clear and commonly accepted definition of the term 'cerebral palsy' (CP). The term is used for different kinds of symptomatology and pathogenesis which are actually quite heterogeneous. A detailed analysis of the criteria for defining indicates that a clear definition is impossible. The contradictions inherent in this term arise form the fact that its usage covers a wide range of clinical and pathogenetic essentials which are often incompatible. The term 'CP' is valuable only from the administrative and therapeutic point of view. But as it is often wrongly interpreted as a diagnosis it should no longer be used in medical and scientific communication.


Asunto(s)
Parálisis Cerebral/diagnóstico , Parálisis Cerebral/etiología , Niño , Preescolar , Diagnóstico Diferencial , Humanos , Lactante , Recién Nacido , Terminología como Asunto
20.
Klin Padiatr ; 208(5): 280-4, 1996.
Artículo en Alemán | MEDLINE | ID: mdl-8992094

RESUMEN

In our first report we analysed the criteria for defining the term 'cerebral palsy'. In this paper we deal with the problems arising from this terminology and exemplify this by presenting some case reports. It will be shown that the usage of the term 'CP'--misunderstood as a diagnosis--often hinders the correct analysis of the underlying pathogenesis and aetiology. Thus genetic, therapeutic and forensic implications of the underlying disease or lesion are easily over-looked.


Asunto(s)
Parálisis Cerebral/diagnóstico , Adolescente , Encéfalo/anomalías , Encéfalo/patología , Parálisis Cerebral/etiología , Parálisis Cerebral/rehabilitación , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/etiología , Hipotonía Muscular/rehabilitación , Examen Neurológico , Tomografía Computarizada por Rayos X
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