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  • Electronic Resource  (9)
  • Phenylketonuria  (4)
  • Key words Phenylketonuria  (3)
  • Bakteriologie der Ellbogeninfektion
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  • Electronic Resource  (9)
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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Trauma und Berufskrankheit 2 (2000), S. S86 
    ISSN: 1436-6274
    Keywords: Schlüsselwörter ; Ellbogeninfektion ; Offenes zweizeitiges Vorgehen ; Gelenkfunktionserhalt ; Bakteriologie der Ellbogeninfektion ; Spätkomplikationen ; Nachuntersuchungsergebnisse ; Key words ; Elbow infection ; Open two-stage-approach ; Maintenance of joint function ; Bacteriology of elbow infection ; Late complications ; Follow-up results
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Infection of the elbow is a rare complication of fracture treatment: it is occasionally seen as a primary complication, but also after injections, soft tissue defects, bursectomies and ulcerogenic lesions. It may spread by the haematogenous, lymphogenic or metastatic route. The onset of symptoms is often mild, so that patient and physician are deceived and treatment even of severe infections is delayed. Conservative treatment of joint infection or a limited surgical approach is seldom sufficient. The aim of treatment should be the restoration of joint movement, at least to an extent allowing pro- and supination of the hand. In case of an acute infection a transarthroscopic approach with debridement and irrigation of the joint can yield good results if repeated daily until the symptoms of the infection subside. Because of the prolonged course of the disease we prefer a two-stage approach at our institution. The first stage is a bilateral arthrotomy of the joint, involving a synoviectomy and insertion of local antibiotics (Septopal®, Miniseptopal®). The joint is left open, and the patient receives careful hydrophysical therapy with limited joint movement. Antibiotics are administered perioperatively, and the wounds are dressed daily with iodine ointment. Once there is no further pustulent secretion, the arthrotomy is closed after 7–12 days, at the same time as a thorough debridement is performed in a second-stage operation. Intensive physical rehabilitation, including ergotherapy and mobilisation with transposition of the joint, begins immediately after this procedure, augmented in most cases by administration of intravenous analgesic medication. From 1979 to 1997, we treated 27 cases of empyema of the elbow. Surgical therapy consisted in primary arthrodesis ¶because of severe joint destruction ¶in 2 patients (7.4%). In 4 patients (14.8%) a one-stage-approach was considered, but the treatment was unsuccessful in 2 cases. In 21 patients (77.8%) a two-stage-approach was undertaken as the primary procedure. No complications were found in 19 patients (82.6%), while in ¶4 cases soft-tissue defects were closed in a second operation. Late complications included 2 recurrent infections. Long-term follow-up was possible in 20 of 25 patients with preservation of joint function. These included 5 patients (20%) who had a free range of motion (ROM), while ¶6 patients (24%) were limited to one quarter ROM, 4 patients each (16%) to a half and three quarters ROM compared with the contralateral joint, and 1 patient (4%) had a stiff elbow.
    Notes: Zusammenfassung Die Ellbogengelenkinfektion ist glücklicherweise eine relativ seltene Komplikation der Frakturbehandlung, gelegentlich auch eine primäre Erkrankung nach Injektion, Bursektomie, nach Defekten oder Ulzera, hämatogen, lymphogen, metastatisch oder postoperativ. Die Symptomatik ist nicht selten wenig dramatisch, so daß auch die ausgedehnte Gelenkinfektion häufiger über längere Zeit übersehen, fehlgedeutet oder sowohl vom Patienten als auch vom Arzt bagatellisiert werden kann. Die Gelenkinfektion kann nur selten allein konservativ oder mit begrenztem chirurgischem Vorgehen erfolgreich therapiert werden. Ziel sollte stets der Wiedergewinn der Funktion sein, dabei ist auch der alleinige Erhalt der Umwendbewegungen der Hand durchaus von wesentlicher Bedeutung. Bei der akuten Infektion kann durchaus allein transarthroskopisch vorgegangen werden, wobei ein intensives Débridement (Shaving) unter reichlich Spülung vorgenommen werden sollte und das Vorgehen bis zur definitiven Infektionsberuhigung möglichst täglich wiederholt wird. Wegen des gehäuft langwierigen Verlaufs hat sich bei uns das zweizeitige chirurgische Vorgehen bewährt, wobei im ersten Eingriff möglichst nach zweiseitiger Arthrotomie eine totale Synovialektomie unter Schonung der Gelenkstrukturen mit Einlage von Septopal ® (meist Miniseptopal ® ) ausgeführt wird. Die Arthrotomien verbleiben nach diesem Eingriff offen. Im postoperativen Verlauf werden unter gleichzeitiger perioperativer systemischer antibiotischer Behandlung vorsichtige Bewegungsübungen im Armbad und tägliche Verbandwechsel mit Betaisodonasalbe ausgeführt. Sistiert die Sekretion, werden die Arthrotomien nach 7–12 Tagen in einem 2. Eingriff nach erneutem radikalem Débridement verschlossen. Anschließend wird unverzüglich ein intensives Mobilisationsprogramm unter Umlagerung, Krankengymnastik, Ergotherapie, anfangs meist unter i.v. Schmerztherapie begonnen. Von 1979–1997 wurden bei uns 27 Ellbogengelenkempyeme behandelt. Zur Infektionsberuhigung wurde bei uns 2mal (7,4%) eine primäre Arthrodese wegen Gelenkzerstörung ausgeführt, bei 4 Patienten (14,8%) wurde ein einzeitiges operatives Vorgehen geplant, 2mal verlief es erfolglos. Bei 21 Patienten (77,8%) wurde primär das zweizeitige operative Vorgehen vorgenommen. Bei 19 Patienten (82,6%) verlief die zweizeitige Behandlung komplikationsfrei, 4mal mußten weiterbestehende Hautdefekte sekundär verschlossen werden. Als Spätkomplikation wurden bislang 2 Infektionsrezidive beobachtet. 20 von 25 Patienten mit Gelenkerhalt konnten mindestens 1–2 Jahre nach der Behandlung nachuntersucht werden: 5 Patienten (20,0%) hatten fast freie Gelenkfunktion, 6 (24,0%) Einschränkungen zu 1/4, je 4 Patienten (16,0%) Einschränkungen zur Hälfte bzw. zu 3 / 4 der Gegenseite, während das Gelenk bei 1 Patienten (4,0%) sekundär eingesteift war.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: CNS development ; Dietary treatment ; EEG ; IQ ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 34 children with phenylketonuria (PKU) treated early the prognostic value of the age on institution of the diet (within the first 3 months of life) and of the quality of dietary treatment was determined in two different ways: 1) following intelligence closely (IQ) and (2) evaluating the EEG development up to their 12th (n=34) and 15th (n=18) years of life as appropriate. In general, IQ scores were found to be normal from the 4th–15th years of life. In our group of patients there was no effect on the IQ of the timing of diet onset. Children with “strict” dietary control showed a significantly higher IQ than those with “loose” control. One hundred and fifty-four EEGs (10/20 system, awake with eyes closed) were recorded at intervals of 2 years and conventionally evaluated. The development of alpha-activity was found to be normal. Beta-activity was enhanced. Abnormal EEG findings like general slowing and generalized paroxysmal activity (GPA) with or without spikes were more frequent in children with PKU than in controls, with the exception of focal abnormalities. EEG abnormalities increased with advancing age independently of IQ development and showed no relation to either the age at the onset nor the quality of dietary treatment.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Biopterin ; Phosphate-eliminating enzyme ; 6-Pyruvoyl tetrahydropterin synthase ; Amniotic fluid ; Erythrocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Phenylalanine ; Magnetic resonance ; imaging ; Evoked potentials ; Myelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract White matter abnormalities on MRI have been observed in phenylketonuria (PKU) patients with late onset neurological symptoms as well as in neurologically inconspicious patients. We investigated 14 early treated adolescents at an age between 12 and 17 years (mean age 14.3 years) with classical PKU as well as one retarded patient with atypical PKU by cranial MRI with spinecho T1-, T2- and proton density sequences. Clinical examination was normal. Visual evoked potential (VEP) examination showed a prolonged latency of peak P100 (mean 122.6 ms; control mean 115.9) and IQ testing showed a mean IQ of 101.1. To investigate the influence of plasma phenylalanine (Phe) levels three approaches were used: Phe was determined for the day of MRI, for a period of 6 months prior to MRI and for lifetime up to 12 years. MRI scans revealed areas of abnormally increased signal intensity on T2-weighted and proton density images in 12 (86%) patients, preferably involving the parieto-occipital lobes. MRI of the patient with atypical PKU was normal. MRI findings correlated most strongly to long-term dietary control up to 12 years. We found no correlation with the other parameters of biochemical control, IQ or VEP latency. The nature and prognosis of MRI abnormalities in neurologically normal PKU patients remain unclear although abnormalities in VEPs which were not associated with the degree of MRI abnormalities in our sample indicate a disturbance in myelination along the visual pathways.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 824-830 
    ISSN: 1432-1076
    Keywords: Key words Intelligence ; Neurology ; Neuropsychology ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Due to the observation of severe neurological symptoms in single patients as well as brain imaging, neuropsychological and neurophysiological abnormalities, the long-term prognosis of treated phenylketonuria is still under discussion. We investigated the neurological outcome of 57 (24 male, 33 female) patients with phenylketonuria (diet onset 〈3 months) at a mean age of 23.6 (17–33) years in comparison to control subjects. Methods used were a clinical-neurological examination, tests for fine motor abilities, IQ test (WAIS-R), a neuropsychological attention task and MRI (30 patients only). Tremor was increased in the patients (28%) compared to controls (15%). Fine motor abilities were significantly reduced in three areas: hand-wrist steadiness, finger-hand dexterity and hand-wrist speed. Tremor as well as reduced fine motor skills were not associated with treatment-related variables, e.g. diet onset, strictness of biochemical control or amount of MRI white matter change. IQ was lower in patients (mean 97.6) compared to matched control subjects (mean 105.5). IQ at 12 years was correlated with biochemical control from birth up to the age of 12 and remained stable up to adult age, independent of biochemical control after 12 years of age. In contrast to the other outcome parameters, the performance in a neuropsychological attention task was influenced by the concurrent plasma phenylalanine concentration. Specific late-onset neurological impairment was not identified in this sample of early-treated adults with phenylketonuria. Conclusion Careful neurological investigation revealed subtle symptoms of brain damage even after early-initiated treatment in adult patients with phenylketonuria. At present it cannot be excluded that further neurological deterioration could emerge later in life. Thus, patients with phenylketonuria – either on or off diet – should be monitored throughout life.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Genotype ; Treatment ; IQ
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The interdependence of the predicted in vitro residual enzyme activity (PRA), as deduced from the complete genotypes of 64 hyperphenylalaninaemic patients, and parameters for diagnosis of hyperphenylalaninaemic disorders, the fluctuation of the phyenlylalanine (Phe) values during treatment, long-term dietary control during treatment, and a parameter for the outcome of therapy (IQ) was investigated by correlation analysis. A highly significant correlation was found between the PRA and diagnostic parameters, as well as the fluctuation of the Phe values during treatment. Significant correlations were also observed between the parameter describing the fluctuation of the Phe values and the IQ, as well as between the quality of dietary control and IQ. The PRA is a valuable tool for the differential diagnosis of hyperphenylalaninaemic disorders and for the prediction of one aspect of the course of the disease which is related to the intellectual outcome of therapy. The quality of dietary control was independent of the genotype, indicating that the outcome of therapy can be successfully manipulated in spite of the genetic make-up.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. S97 
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Intelligence ; Education ; Professional career ; Phenylalanine ; control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The intellectual status and professional careers of 51 young adults with phenylketonuria whose treatment started before 3 months of age are described. Their mean IQ was 97 (SD = 16). Of the IQs, 4% were more than 2 SD below the norm. The distribution of types of schooling of the patients was comparable to that in the German population. The professional careers of nearly all the patients were according to their educational level. Within the sample the outcome was significantly correlated with phenylalanine (Phe) control, even when the patients’ social background was statistically taken into account. The main influence of Phe on intelligence seems to occur during the first decade of life since IQ data remain stable even after Phe levels increased during adolescence.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. A17 
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Adolescents ; Dietary control ; Intelligence ; Psychological problems
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1435-1285
    Keywords: Key words Coarctation of the aorta ; patent ductus arteriosus ; ventricular function ; heart failure ; surgical repair ; Schlüsselwörter ; Aortenisthmusstenose ; offener Ductus Botalli ; Ventrikelfunktion ; Herzinsuffizienz ; operative Korrektur
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Wir beschreiben den Krankheitsverlauf einer 36-jährigen Frau mit unbehandelter Aortenisthmusstenose und offenem Ductus Botalli, die aufgrund einer ausgeprägten linksventrikulären Dysfunktion eine therapierefraktäre Herzinsuffizienz entwickelte. Nach operativer Korrektur der Aortenisthmusstenose und Ductusresektion normalisierte sich die linksventrikuläre Pumpfunktion, sodass davon ausgegangen werden kann, dass auch schwere linksventrikuläre Dysfunktionen auf dem Boden langjähriger Druck- und Volumenbelastung durch angeborene Herzfehler nach operativer Korrektur reversibel sein können.
    Notes: Summary We report on the history of a 36-year-old woman with untreated coarctation of the aorta and patent ductus arteriosus who developed refractory heart failure due to severely impaired left ventricular function. After coarctation repair and duct resection, left ventricular function improved to normal. Even in the presence of longstanding left ventricular pressure and volume overload, subsequent severe myocardial failure may be reversible by surgical repair.
    Type of Medium: Electronic Resource
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