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Biomedical subjects

P Chumas

Publications and source records attributed to P Chumas.

15 recordsLinked to original sources
PubMed2006

Gorham's disease of skull base and cervical spine--confusing picture in a two year old.

The unusual presentation of Gorham's disease of skull base and cervical spine in a two-year-old female child with radiological signs mimicking those of raised intracranial pressure is discussed. The differential diagnosis consists of skull base tumours, meningitis, osteomyelitis of the base of skull, congenital hydrocephalaus and congenital syndromes involving the skull base. Pathologically it can be very difficult to differentiate it from lymphangioma of the bone. Difficulty in establishing the diagnosis is discussed along with failure of radiotherapy and palmidronate therapy to cause arrest of the disease process and failure of surgery to provide stabilisation. We describe the course of the disease in this child over the period of last eight years. To the best of our knowledge this is the youngest case of Gorham's described so far.

Bone Density Conservation Agents↗
PubMed2005

Pre- and postoperative developmental attainment in sagittal synostosis.

AIMS: To investigate whether sagittal synostosis (SS) has consequences for children's mental and psychomotor development, and whether surgery has any impact on this. METHODS: The study involved 28 children with SS who underwent corrective surgery at a mean age of 8.0 (SD 7.16) months, and 28 normal controls. All the children with SS were assessed pre- and postoperatively using the Griffiths Mental Development Scales. The controls were assessed on one occasion, at an age matched with individuals in the patient group at the time of the preoperative assessment. A further control group consisted of 13 children with SS, who had received developmental assessment on two or more occasions without surgical intervention. RESULTS: The data indicated that children with SS have significantly poorer gross locomotor function than the normal controls. Following surgical intervention the deficit was shown to have resolved; consistent with this a lesser improvement in eye-hand coordination and performance skills was shown. Overall developmental attainment also improved postoperatively. The children with SS who did not receive surgery did not show any improvement in development. CONCLUSIONS: The study shows improved developmental attainment following surgical correction of SS, which may therefore be more than a cosmetic procedure.

Analysis of Variance↗
PubMed2002

Investigations on a clinically and functionally unusual and novel germline p53 mutation.

This report describes an individual with a rare choroid plexus papilloma in adulthood (age 29) after earlier having an osteosarcoma (age 22). The results from this study, and others, suggest that it may be advisable to consider the possibility of a germline p53 mutation in adults presenting with choroid plexus tumours. In the current study automated DNA sequencing of genomic DNA detected a novel germline 7 base pair insertion in exon 5 of the p53 gene in this patient. The alteration in frame would produce amino acid substitutions beginning with alanine to glycine at position 161 and a stop codon at position 182 in the mutated protein. Surprisingly two assays of p53 function gave apparently wild-type results on peripheral blood lymphocytes from this individual. These results led us to carry out more detailed functional tests on the mutant protein. The mutant allele was expressed either at very low levels or not at all in phytohaemagglutinin stimulated lymphocytes. Further, the mutant protein was completely non-functional in terms of its ability to transactivate a series of p53-responsive genes (p21(WAF1), bax, PIG3), to transrepress a target gene and to inhibit colony growth in transfected Saos-2 cells. However, surprisingly, data from irradiated peripheral blood lymphocytes and transfected Saos-2 cells, suggested that this truncated, mutant protein retains significant ability to induce apoptosis.

Adult↗
PubMed2001

Obstructive hydrocephalus following herpes simplex virus type 1 encephalitis treated by repeated third ventriculostomy.

A rare case of obstructive hydrocephalus due to aqueductal obstruction following neonatal herpes simplex virus type 1 encephalitis is presented. The child was treated by third ventriculostomy and vesicles were seen on the floor of the third ventricle. The stoma closed on two occasions and required repeat third ventriculostomy, which was successful in maintaining the child shunt-free.

Encephalitis, Herpes Simplex↗
PubMed1999

Failure of third ventriculostomy in the treatment of aqueductal stenosis in children.

OBJECT: The goal of this study was to analyze the types of failure and long-term efficacy of third ventriculostomy in children. METHODS: The authors retrospectively analyzed clinical data obtained in 213 children affected by obstructive triventricular hydrocephalus who were treated by third ventriculostomy between 1973 and 1997. There were 120 boys and 93 girls. The causes of the hydrocephalus included: aqueductal stenosis in 126 cases; toxoplasmosis in 23 cases, pineal, mesencephalic, or tectal tumor in 42 cases; and other causes in 22 cases. In 94 cases, the procedure was performed using ventriculographic guidance (Group I) and in 119 cases by using endoscopic guidance (Group II). In 19 cases (12 in Group I and seven in Group II) failure was related to the surgical technique. Three deaths related to the technique were observed in Group I. For the remaining patients, Kaplan-Meier survival analysis showed a functioning third ventriculostomy rate of 72% at 6 years with a mean follow-up period of 45.5 months (range 4 days-17 years). No significant differences were found during long-term follow up between the two groups. In Group I, a significantly higher failure rate was seen in children younger than 6 months of age, but this difference was not observed in Group II. Thirty-eight patients required reoperation (21 in Group I and 17 in Group II) because of persistent or recurrent intracranial hypertension. In 29 patients shunt placement was necessary. In nine patients in whom there was radiologically confirmed obstruction of the stoma, the third ventriculostomy was repeated; this was successful in seven cases. Cine phase-contrast (PC) magnetic resonance (MR) imaging studies were performed in 15 patients in Group I at least 10 years after they had undergone third ventriculostomy (range 10-17 years, median 14.3 years); this confirmed long-term patency of the stoma in all cases. CONCLUSIONS: Third ventriculostomy effectively controls obstructive triventricular hydrocephalus in more than 70% of children and should be preferred to placement of extracranial cerebrospinal shunts in this group of patients. When performed using ventriculographic guidance, the technique has a higher mortality rate and a higher failure rate in children younger than 6 months of age and is, therefore, no longer preferred. When third ventriculostomy is performed using endoscopic guidance, the same long-term results are achieved in children younger than 6 months of age as in older children and, thus, patient age should no longer be considered as a contraindication to using the technique. Delayed failures are usually secondary to obstruction of the stoma and often can be managed by repeating the procedure. Midline sagittal T2-weighted MR imaging sequences combined with cine PC MR imaging flow measurements provide a reliable tool for diagnosis of aqueductal stenosis and for ascertaining the patency of the stoma during follow-up evaluation.

Adolescent↗
PubMed1998

Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation.

OBJECTIVE: The goal was to describe a surgical technique allowing occipital vault remodeling and suboccipital decompression in patients affected by multiple-suture synostosis presenting severe occipital flattening and chronic tonsillar herniation (CTH). METHODS: Four patients (two with Crouzon's syndrome, one with Kleeblattschädel, and one with complex craniosynostosis) presenting multiple-suture synostosis with severe occipital flattening, posterior fingerprint impressions, and CTH were operated on in the prone position. For three patients, occipital vault remodeling and suboccipital decompression without dural opening were performed; for one patient affected by Kleeblattschädel, an upper cervical laminectomy and dural opening were performed. All patients were studied with magnetic resonance imaging pre- and postoperatively. RESULTS: No complications were observed. In all cases, postoperative magnetic resonance imaging revealed good decompression of the craniocervical junction, with resolution of brain stem displacement. In one case, CTH recurred 15 months after surgery, although in a less severe form. CONCLUSION: In selected cases of complex or syndromic craniosynostosis with predominant posterior deformity and CTH, this technique was safe and useful in the management of cranial reconstruction, allowing posterior vault remodeling and prophylactic suboccipital decompression. After validation with a larger number of patients, it could prove to be a useful option in all cases of complex craniosynostosis with CTH in which a staged repair of the craniosynostosis is to be considered.

Cerebellar Diseases↗
PubMed1998

Hydrocephalus and craniosynostosis.

OBJECT: A retrospective study of 1727 cases of craniosynostosis was undertaken to determine the interrelationship between abnormal cerebrospinal fluid (CSF) hydrodynamics and craniosynostosis. METHODS: The patients were divided into two groups: nonsyndromic craniosynostosis and syndromic craniosynostosis. Cases of occipital plagiocephaly without suture synostosis and cases of shunt-induced craniosynostosis were excluded from the study. The majority of patients (1297) were treated surgically for their cranial deformity; 95% of these patients had a postoperative follow-up review period lasting 5 years. Clinical and radiographic charts covering the time from presentation through the follow-up period were reviewed. CONCLUSIONS: Abnormal intracranial CSF hydrodynamics was found in 8.1% of the patients (3.4% of whom had received shunts and 4.5% of whom had not). Three types of CSF hydrodynamic disturbance were observed: progressive hydrocephalus with ventricular dilation, nonprogressive ventriculomegaly, and dilation of the subarachnoid spaces. Hydrocephalus occurred much more frequently in patients with syndromic craniosynostosis (12.1%) than in those with isolated craniosynostosis (0.3%). In fact, patients with kleeblattschädel exhibited hydrocephalus as a constant feature and patients with Crouzon's syndrome were far more likely to have hydrocephalus than those with other syndromes. In Apert's syndrome, ventricular dilation occurred very frequently, but it was almost always nonprogressive in nature. In most cases of syndromic craniosynostosis, venous sinus obstruction and/or chronic tonsillar herniation were found. Their role in the pathophysiology of hydrocephalus in craniosynostosis is discussed.

Acrocephalosyndactylia↗
PubMed1997

Early changes in peritumorous oedema and contralateral white matter after dexamethasone: a study using proton magnetic resonance spectroscopy.

AIMS: To study the mechanism of action of steroids in patients with peritumorous oedema. METHODS: To investigate early cerebral metabolic changes proton magnetic resonance spectroscopy (1H-MRS) was used before and 11 to 14 hours after treatment with dexamethasone (12 mg oral loading and 4 mg four times daily maintenance). Nine patients (two men, seven women, mean age 54) with pronounced oedema associated with various intracranial tumours (two astrocytomas, three meningiomas, two glioblastoma, and two metastases) were examined using MRI and MRS. SE1500/135 volume selected MRS (mean volume 21 ml) were performed on an oedematous region and a contralateral region. All spectra were acquired with and without water suppression. Metabolite peak area ratios were determined. RESULTS: Regions of oedema had significantly (P < 0.01) higher unsuppressed water than the contralateral regions, as expected. There was no change at this early time point after dexamethasone. The ratio of the area of choline containing compounds to that creatine and phosphocreatine compounds was determined after which the serial ratios of these before and after were calculated (a serial ratio of 1.0 would indicate no change in the choline to creatine ratios after steroid administration). The mean serial ratios for the area of oedema were 1.02 (SEM 0.08) and 1.10 (0.08) for the contralateral volume of interest, indicating no significant changes. However, significant changes (P < 0.02) were found in the N-acetyl-aspartate (NAA)/choline serial ratios (0.86 (0.06) in the area of oedema, 1.20 (0.10) in contralateral brain) and the NAA/creatine serial ratios (0.86 (0.08) for the oedema, 1.25 (0.11) in contralateral brain). CONCLUSIONS: Such rapid changes may be explained either by relatively large alterations in the relaxation characteristics of NAA or, more controversially, by actual changes in the amounts of NAA. It is proposed that steroids act primarily by causing early metabolic changes that are later expressed in improvements in intracranial volume relations.

Antineoplastic Agents, Hormonal↗
PubMed1991

Preliminary experience with the Berger neurobiopsy device for ultrasound guided aspiration and biopsy of intracranial lesions.

Our preliminary experience is presented in the use of the Berger neurobiopsy device for ultrasound localization and biopsy of intracranial lesions through a burr hole. The apparatus and technique are described, along with the results of its use in the first 49 patients. In these patients 43 tumours were biopsied, all except one successfully. Three abscesses were aspirated, two intraventricular shunt catheters were sited and in one patient the diagnosis of postradiation gliosis was confirmed and tumour excluded. The advantages and limitations of the technique are discussed. It is advocated as a simple and time-saving alternative to CT stereotactic biopsy in many cases.

Adolescent↗
PubMed1990

Solitary plasmacytoma of the frontal bone.

We report a case of a solitary, painless, lytic lesion in the frontal bone in an otherwise asymptomatic patient. This was investigated with plain radiographs, computed tomography (CT), angiography and finally biopsy. Histology showed it to be a plasmacytoma. The radiological features of this lesion are discussed. Solitary plasmacytoma of bone has an uncertain relationship to multiple myeloma; it has only rarely been described in the skull and very rarely in the frontal bone.

Adult↗
PubMed1988

Preoperative lower limb venography in patients undergoing total hip arthroplasty.

Using bilateral ascending venography, the authors examined 93 consecutive patients undergoing total hip arthroplasty for the presence of asymptomatic preoperative leg vein thrombosis. Radiologic abnormalities were seen in only four patients, and this was not statistically significant (P greater than .1). There were no complications from the procedure. It is suggested that routine preoperative screening for deep vein thrombosis prior to hip arthroplasty is unnecessary but may be appropriate in patients at particularly high risk for thromboembolic complications.

Aged↗