Biomedical subjects

Emile A M Beuls

Publications and source records attributed to Emile A M Beuls.

5 recordsLinked to original sources

PubMed2006

The Currarino triad: neurosurgical considerations.

OBJECTIVES: The Currarino triad, a relatively uncommon hereditary disorder, is often associated with tethered cord and anterior myelomeningocele. Little is known of the implications of these neuroanatomic malformations or of the neurosurgical attitude. The objective of this study is to identify the spinal cord and meningeal malformations associated with the Currarino triad and to discuss the risks and benefits of surgical intervention. METHODS: We analyzed the spinal cord malformations and the neurosurgical involvement with the Currarino triad by retrospective chart review. RESULTS: The Currarino triad neuroanatomic malformations were identified in five patients. The Currarino triad was associated with a tethered cord in three patients, a myelomeningocele in five patients, a syrinx in two patients, a fistula between the colon and spinal canal in two patients, and an Arnold-Chiari Type 1 malformation in one patient. CONCLUSION: Full spine imaging is required for all patients diagnosed with the Currarino triad. Magnetic resonance imaging of the head should be performed in every patient with neuroanatomic anomalies. Surgery of an anterior myelomeningocele is not necessarily indicated, only in the rare case in which the space-occupying aspect is expected to cause constipation or problems during pregnancy or delivery. Constipation directly after birth is seen in virtually all patients with the triad. Therefore, constipation cannot be used to diagnose a tethered cord syndrome nor indicate tethered cord release. Fistulas between the spinal canal and colon have to be operated on directly.

Abnormalities, Multiple↗

PubMed2005

The Currarino triad: the variable expression.

BACKGROUND: The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 region and characterized by an anorectal malformation, sacrococcygeal defect, and a presacral mass. PURPOSE: The aim of the study was to report the highly variable expression in patients with the Currarino triad and provide a guideline for the clinician if the Currarino triad is suspected. METHODS: We examined the symptoms and associated anomalies in 5 families with the Currarino triad by retrospective chart review. RESULTS: Fifteen patients had Currarino-associated anomalies. This included anorectal malformation in 9, a presacral mass in 9, and a sacral bone defect in 15. Tethered cord was present in 4 patients. There were 12 symptomatic patients. Constipation was diagnosed in all of them. Other symptoms included recurrent urinary tract infections caused by bladder dysfunction in 5, abnormal gait in 1, and another patient who initially presented with meningitis. Two carriers of the genetic defect had no symptoms or anomalies. CONCLUSIONS: The phenotypical expression of the gene mutations causing the Currarino triad can vary from asymptomatic to patients presenting with the complete triad. Presence of a crescent-shaped defect of the sacral bone may be used as initial screening method. As the penetration of the genetic defect is variable, DNA screening is the only method to fully exclude the triad.

Abnormalities, Multiple↗

PubMed2005

Gender differences in febrile seizure-induced proliferation and survival in the rat dentate gyrus.

PURPOSE: Febrile seizures are fever-associated early-life seizures that are thought play a role in the development of epilepsy. Seizure-induced proliferation of dentate granule cells has been demonstrated in several adult animal models and is thought to be an integral part of epileptogenesis. The aim of the present study was to investigate proliferation and survival of dentate gyrus (DG) cells born after early-life hyperthermia (HT)-induced seizures in male and female rats. METHODS: At postnatal day (PN) 10, male and female rats were exposed to heated air to induce seizures. Littermates were used as normothermia controls. Convulsive behavior was observed by two researchers. From PN11 to PN16, rats were injected with bromodeoxyuridine (BrdU) to label dividing cells. The number of BrdU-immunoreactive cells in the DG was counted at PN17 and PN66. RESULTS: At PN17, male as well as female HT rats had the same amount of BrdU-positive cells compared with controls. At PN66, significantly more BrdU-positive cells were left in HT females (53%) than in controls (44%, percentage of BrdU-positive cells at PN17), whereas no difference was found between HT males and male controls. The net result of proliferation and survival at PN66 was that female HT rats had the same number of BrdU-immunoreactive cells as controls, whereas male HT rats had 25% more BrdU-immunoreactive cells than did controls (p < 0.05). CONCLUSIONS: Early-life seizures cause a sexually dimorphic cytogenic response that results in an increased population of newborn DG cells in young adult males, while leaving that of young adult females unaltered.

Animals↗

PubMed2003

In vitro high-field magnetic resonance imaging-documented anatomy of a fetal myelomeningocele at 20 weeks' gestation. A contribution to the rationale of intrauterine surgical repair of spina bifida.

OBJECT: It remains uncertain if closure of a myelomeningocele at midgestation changes the neurological condition at birth in an infant born with spina bifida. The authors conducted a study to provide a detailed analysis of the morphology of the spinal cord with the myelomeningocele at the time fetal surgery usually is performed. METHODS: The myelomeningocele of a 20-week-gestation-age fetus was examined, and data were compared with those obtained in a neurologically intact specimen of the same age. In vitro high-field 9.4-tesla magnetic resonance (MR) microscopy was used to examine the fetal material. High-field MR spectroscopy provided images in the three orthogonal planes with a resolution comparable with low-power optical microscopy. The authors observed that the fetal cord of the myelomeningocele specimen was tapered and tethered at S3-4 while the conus medullaris in the normal fetus reaches L-4. No neurulation defects were noted. The axial MR images clearly revealed the nonfusion of the mesodermal structures. The absence of neurulation defects suggests that at least in some cases of spina bifida the spinal cord initially is well developed but is damaged later on chemically and mechanically. This might be an argument in favor of intrauterine myelomeningocele repair. By 20 weeks' gestation, however, the deformation of the cord inside the myelomeningocele is severe. An optimization of the preoperative assessment by means of MR imaging therefore might be considered a valuable contribution to intrauterine surgery. The in vitro high-field MR microscopic findings of this study could be used as references for clinical intrauterine MR imaging. CONCLUSIONS: The detailed in vitro high-field MR analysis of a 20-week-gestation-age fetus with spina bifida demonstrated that an improvement of the preoperative intrauterine imaging should be pursued to detect those cases without neurulation defects and with minimal deformation of the spinal cord.

Arnold-Chiari Malformation↗

PubMed2002

Acute distortion of the anatomy of the third ventricle during third ventriculostomy. Report of four cases.

The authors report on four third ventriculostomy procedures in which upward ballooning of the third ventricular floor occurred immediately after perforation of the floor and withdrawal of a Fogarty catheter. The floor herniated into the third ventricle, hindering the endoscopic view. Preoperative magnetic resonance imaging demonstrated a similar anatomy in all four cases, consisting of hydrocephalus, extreme dilation of the third ventricle, and disappearance of the interpeduncular cistern due to a very thin, membranous floor of the third ventricle, which herniated downward, draping over the basilar artery. The authors suggest that excessive rinsing in combination with this anatomical configuration provoked the phenomenon of upward ballooning of the third ventricular floor, which is described in this report.

Adult↗