Harald Bode | University of Ulm (original) (raw)
Papers by Harald Bode
Develop Med Child Neurol, 2007
Monatsschr Kinderheilk, 1998
Hum Genet, 1997
A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (N... more A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (NF1) and in her affected daughter. Sequence analysis of cloned junction fragments traversing the breakpoints allowed the identification of the structures involved in the rearrangement. Aberrant bands in Southern hybridizations of restriction enzyme-digested DNA of the patient pointed to the disruption of the NF1 gene in intron
Wiener Klinische Wochenschrift, Sep 1, 2005
Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration backgr... more Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration background Wien Klin Wochenschr (2005) 117/15-16: 541-547
Ultraschall in der Medizin
Fetal magnetic resonance imaging (MRI) is a reliable method to further evaluate brain anomalies d... more Fetal magnetic resonance imaging (MRI) is a reliable method to further evaluate brain anomalies detected on ultrasonography. MRI can reveal additional brain abnormalities which are consequential for counselling parents about the fetal prognosis and subsequently influence the decision about continuing the pregnancy. In case of fatal malformations, MRI can confirm a diagnosis established on ultrasonography, supplying more reliability.
Ultraschall in der Medizin
Monatsschrift Kinderheilkunde
Die Therapie der Aufmerksamkeitsdefizit-Hyperaktivitäts-Störung mit Stimulanzien gehört zu den am... more Die Therapie der Aufmerksamkeitsdefizit-Hyperaktivitäts-Störung mit Stimulanzien gehört zu den am besten untersuchten medikamentösen Interventionen. Eine Behandlung mit Methylphenidat in Kombination mit psychotherapeutischen Maßnahmen wird in nationalen und internationalen Leitlinien als ,,Goldstandard“ empfohlen. Dennoch gibt es auch heute noch einen irrationalen Widerstand gegen die Behandlung von ADHS mit Methylphenidat. Aufgrund dieser Tatsache ist ein Konsens aller an der rationalen Versorgung von ADHS-Patienten Beteiligter so wichtig, um Patienten und/oder deren Eltern nicht zusätzlich zu verunsichern. Wir haben in einer Expertenkonferenz mit Praktikern und Hochschullehrern aus der Kinderheilkunde, Kinder- und Jugendpsychiatrie und Pharmakologie versucht, fundierte Behandlungsempfehlungen zu diesem Krankheitsbild abzugeben. Unser Ziel war, einen Konsens über Sicherheitsfragen, insbesondere Fragen der Pharmakovigilanz und der Methylphenidatdosierung, zu finden. Des Weiteren wur...
Monatsschrift Kinderheilkunde, 1998
Zeitschrift für Geburtshilfe und Neonatologie, 2008
Kindheit und Entwicklung, 2014
Zeitschrift für Geburtshilfe und Neonatologie, 2009
Zeitschrift für Geburtshilfe und Neonatologie, 2007
![Research paper thumbnail of [Neurodevelopmental outcome of very low birth weight infants born at the Perinatal Centre in Ulm, Germany]](https://attachments.academia-assets.com/46060419/thumbnails/1.jpg)
](Zeitschrift für Geburtshilfe und Neonatologie, 2013
Since 2006 an assessment of the neurodevelopmental outcome of very low birth weight infants (VLBW... more Since 2006 an assessment of the neurodevelopmental outcome of very low birth weight infants (VLBWI) at a corrected age of 2 years is mandatory for every perinatal centre in Germany. The aim of our study was to check how complete these assessments were performed in our population of infants born at our perinatal centre and receiving treatment within our local neonatal network. Furthermore, the data obtained will be used for prenatal consultations. Another objective was to identify risk factors for adverse neurodevelopmental outcomes. All VLBWI were invited for a follow-up exam using the Bayley Scales of Infant Development II (BSID-II) or III (BSID-III), or Griffiths Mental Developmental Scales) at 2 years corrected age. The results of children assessed by other institutions were collected. 142 (69.3%) of the 205 VLBWI, born and finally discharged alive at the perinatal centre in Ulm were assessed at a median (minimum - maximum) corrected age of 23 (18-27) months. The BSID-II Psychomo...
Monatsschrift Kinderheilkunde, 2003
Der angeborene Hydrocephalus internus ist eine Störung, für die sehr heterogene Ursachen verantwo... more Der angeborene Hydrocephalus internus ist eine Störung, für die sehr heterogene Ursachen verantwortlich sind. 2% aller konnatalen Hydrozephalusbildungen werden X-chromosomal geschlechtsgebunden vererbt. Dabei handelt es sich meist um Mutationen im L1CAM-Gen . Unter CRASH-Syndrom wird eine Gruppe von X-chromosomal vererbten Erkrankungen zusammengefasst,die eine Mutation im L1CAM-Gen vorweisen und nach dem Akronym CRASH folgende Symptome beinhalten können:
Monatsschrift Kinderheilkunde, 2007
Wiener klinische Wochenschrift, 2005
Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration backgr... more Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration background Wien Klin Wochenschr (2005) 117/15-16: 541-547
Neurology, 2001
To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome bioge... more To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome biogenesis disorder (PBD). There is phenotypic and genetic overlap among the PBD known as Zellweger syndrome (ZS), infantile Refsum disease (IRD), and neonatal adrenoleukodystrophy (NALD). Distinctive external features are variable among these three disorders, and neurologic deficit has its onset at birth or in infancy. In a structured follow-up cohort of 25 patients with PBD, not including ZS, three patients had an unusual pattern of cerebral white matter disease with onset past the age of 1, not conforming to any of the classic PBD phenotypes. Clinical phenotyping and follow-up, peroxisomal biochemical determinations in body fluids and fibroblasts, identification of affected PEX gene by genetic complementation in fibroblasts, and MRI studies. Two unrelated patients with PBD without distinctive external features had normal neurodevelopmental milestones during their first year, followed by rapid deterioration including severe hypotonic pareses, seizures, retinopathy, and deafness. A third patient initially diagnosed with IRD developed cerebral white matter degeneration in the third year of life, complicating the original diagnosis. MRI in all three patients showed cerebral demyelination with sparing of subcortical fibers and pronounced central cerebellar demyelination. Late-onset cerebral white matter disease may occur in PBD, either following IRD or following normal early development and in the absence of distinctive external features. Peroxisome biogenesis disorder should be included in the differential diagnosis of post-infantile onset of cerebral white matter disease
Human Genetics, 1997
A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (N... more A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (NF1) and in her affected daughter. Sequence analysis of cloned junction fragments traversing the breakpoints allowed the identification of the structures involved in the rearrangement. Aberrant bands in Southern hybridizations of restriction enzyme-digested DNA of the patient pointed to the disruption of the NF1 gene in intron
Develop Med Child Neurol, 2007
Monatsschr Kinderheilk, 1998
Hum Genet, 1997
A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (N... more A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (NF1) and in her affected daughter. Sequence analysis of cloned junction fragments traversing the breakpoints allowed the identification of the structures involved in the rearrangement. Aberrant bands in Southern hybridizations of restriction enzyme-digested DNA of the patient pointed to the disruption of the NF1 gene in intron
Wiener Klinische Wochenschrift, Sep 1, 2005
Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration backgr... more Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration background Wien Klin Wochenschr (2005) 117/15-16: 541-547
Ultraschall in der Medizin
Fetal magnetic resonance imaging (MRI) is a reliable method to further evaluate brain anomalies d... more Fetal magnetic resonance imaging (MRI) is a reliable method to further evaluate brain anomalies detected on ultrasonography. MRI can reveal additional brain abnormalities which are consequential for counselling parents about the fetal prognosis and subsequently influence the decision about continuing the pregnancy. In case of fatal malformations, MRI can confirm a diagnosis established on ultrasonography, supplying more reliability.
Ultraschall in der Medizin
Monatsschrift Kinderheilkunde
Die Therapie der Aufmerksamkeitsdefizit-Hyperaktivitäts-Störung mit Stimulanzien gehört zu den am... more Die Therapie der Aufmerksamkeitsdefizit-Hyperaktivitäts-Störung mit Stimulanzien gehört zu den am besten untersuchten medikamentösen Interventionen. Eine Behandlung mit Methylphenidat in Kombination mit psychotherapeutischen Maßnahmen wird in nationalen und internationalen Leitlinien als ,,Goldstandard“ empfohlen. Dennoch gibt es auch heute noch einen irrationalen Widerstand gegen die Behandlung von ADHS mit Methylphenidat. Aufgrund dieser Tatsache ist ein Konsens aller an der rationalen Versorgung von ADHS-Patienten Beteiligter so wichtig, um Patienten und/oder deren Eltern nicht zusätzlich zu verunsichern. Wir haben in einer Expertenkonferenz mit Praktikern und Hochschullehrern aus der Kinderheilkunde, Kinder- und Jugendpsychiatrie und Pharmakologie versucht, fundierte Behandlungsempfehlungen zu diesem Krankheitsbild abzugeben. Unser Ziel war, einen Konsens über Sicherheitsfragen, insbesondere Fragen der Pharmakovigilanz und der Methylphenidatdosierung, zu finden. Des Weiteren wur...
Monatsschrift Kinderheilkunde, 1998
Zeitschrift für Geburtshilfe und Neonatologie, 2008
Kindheit und Entwicklung, 2014
Zeitschrift für Geburtshilfe und Neonatologie, 2009
Zeitschrift für Geburtshilfe und Neonatologie, 2007
Zeitschrift für Geburtshilfe und Neonatologie, 2013
Since 2006 an assessment of the neurodevelopmental outcome of very low birth weight infants (VLBW... more Since 2006 an assessment of the neurodevelopmental outcome of very low birth weight infants (VLBWI) at a corrected age of 2 years is mandatory for every perinatal centre in Germany. The aim of our study was to check how complete these assessments were performed in our population of infants born at our perinatal centre and receiving treatment within our local neonatal network. Furthermore, the data obtained will be used for prenatal consultations. Another objective was to identify risk factors for adverse neurodevelopmental outcomes. All VLBWI were invited for a follow-up exam using the Bayley Scales of Infant Development II (BSID-II) or III (BSID-III), or Griffiths Mental Developmental Scales) at 2 years corrected age. The results of children assessed by other institutions were collected. 142 (69.3%) of the 205 VLBWI, born and finally discharged alive at the perinatal centre in Ulm were assessed at a median (minimum - maximum) corrected age of 23 (18-27) months. The BSID-II Psychomo...
Monatsschrift Kinderheilkunde, 2003
Der angeborene Hydrocephalus internus ist eine Störung, für die sehr heterogene Ursachen verantwo... more Der angeborene Hydrocephalus internus ist eine Störung, für die sehr heterogene Ursachen verantwortlich sind. 2% aller konnatalen Hydrozephalusbildungen werden X-chromosomal geschlechtsgebunden vererbt. Dabei handelt es sich meist um Mutationen im L1CAM-Gen . Unter CRASH-Syndrom wird eine Gruppe von X-chromosomal vererbten Erkrankungen zusammengefasst,die eine Mutation im L1CAM-Gen vorweisen und nach dem Akronym CRASH folgende Symptome beinhalten können:
Monatsschrift Kinderheilkunde, 2007
Wiener klinische Wochenschrift, 2005
Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration backgr... more Ipsiroglu et al., Compliance and outcome of PKU patients from families with an immigration background Wien Klin Wochenschr (2005) 117/15-16: 541-547
Neurology, 2001
To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome bioge... more To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome biogenesis disorder (PBD). There is phenotypic and genetic overlap among the PBD known as Zellweger syndrome (ZS), infantile Refsum disease (IRD), and neonatal adrenoleukodystrophy (NALD). Distinctive external features are variable among these three disorders, and neurologic deficit has its onset at birth or in infancy. In a structured follow-up cohort of 25 patients with PBD, not including ZS, three patients had an unusual pattern of cerebral white matter disease with onset past the age of 1, not conforming to any of the classic PBD phenotypes. Clinical phenotyping and follow-up, peroxisomal biochemical determinations in body fluids and fibroblasts, identification of affected PEX gene by genetic complementation in fibroblasts, and MRI studies. Two unrelated patients with PBD without distinctive external features had normal neurodevelopmental milestones during their first year, followed by rapid deterioration including severe hypotonic pareses, seizures, retinopathy, and deafness. A third patient initially diagnosed with IRD developed cerebral white matter degeneration in the third year of life, complicating the original diagnosis. MRI in all three patients showed cerebral demyelination with sparing of subcortical fibers and pronounced central cerebellar demyelination. Late-onset cerebral white matter disease may occur in PBD, either following IRD or following normal early development and in the absence of distinctive external features. Peroxisome biogenesis disorder should be included in the differential diagnosis of post-infantile onset of cerebral white matter disease
Human Genetics, 1997
A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (N... more A reciprocal t(17;22)(q11.2;q11.2) was found in a female patient with neurofibromatosis type 1 (NF1) and in her affected daughter. Sequence analysis of cloned junction fragments traversing the breakpoints allowed the identification of the structures involved in the rearrangement. Aberrant bands in Southern hybridizations of restriction enzyme-digested DNA of the patient pointed to the disruption of the NF1 gene in intron